FUNCOTATION [S100A6 hg38 chr1 153534832 153534832 SPLICE_SITE INTRON SNP T T C g.chr1:153534832T>C ENST00000368720.6 - c.e4+2A>G c.e4-2 0.5112219451371571 CTGCAGCTTCTAATGTGTTAG S100A6_ENST00000496817.5_SPLICE_SITE/S100A6_ENST00000368719.9_SPLICE_SITE/BX470102.1_ENST00000420695.1_RNA 90 biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22) M18981 HGNC:10496 S100_%20_calcium_%20_binding_%20_protein_%20_A6 Approved gene_%20_with_%20_protein_%20_product protein-coding_%20_gene CACY "S100_%20_calcium-binding_%20_protein_%20_A6_%20_(calcyclin)"_%2C__%20_"S100_%20_calcium_%20_binding_%20_protein_%20_A6_%20_(calcyclin)" 2A9_%2C__%20_PRA_%2C__%20_CABP 1q21.3 2016-10-05 2006-09-11 BC001431 6277 ENSG00000197956 NM_014624 459_%7C_863 S100_%20_calcium_%20_binding_%20_proteins_%7C_EF-hand_%20_domain_%20_containing CCDS1040 OTTHUMG00000013549 6277 114110 NM_014624 P06703 ENSG00000197956 uc057lbh.1 hg38 OREG1255107 Type_%3D_TRANSCRIPTION_%20_FACTOR_%20_BINDING_%20_SITE_%7C_Gene_Symbol_%3D_S100A5_%7C_Gene_ID_%3D_ENSG00000196420_%7C_Gene_Source_%3D_ENSEMBL_%7C_Regulatory_Element_Symbol_%3D_SMARCA4_%7C_Regulatory_Element_ID_%3D_ENST00000344626_%7C_Regulatory_Element_Source_%3D_ENSEMBL_%7C_PMID_%3D_18971253_%7C_Dataset_%3D_PAZAR S10A6_HUMAN D3DV39_%7C_Q5RHS4 P06703 axonogenesis_%20_(GO:0007409)_%7C_positive_%20_regulation_%20_of_%20_fibroblast_%20_proliferation_%20_(GO:0048146)_%7C_signal_%20_transduction_%20_(GO:0007165) cytoplasm_%20_(GO:0005737)_%7C_cytosol_%20_(GO:0005829)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_extrinsic_%20_component_%20_of_%20_cytoplasmic_%20_side_%20_of_%20_plasma_%20_membrane_%20_(GO:0031234)_%7C_nuclear_%20_envelope_%20_(GO:0005635)_%7C_nucleus_%20_(GO:0005634)_%7C_perinuclear_%20_region_%20_of_%20_cytoplasm_%20_(GO:0048471)_%7C_ruffle_%20_(GO:0001726) calcium_%20_ion_%20_binding_%20_(GO:0005509)_%7C_calcium-dependent_%20_protein_%20_binding_%20_(GO:0048306)_%7C_ion_%20_transmembrane_%20_transporter_%20_activity_%20_(GO:0015075)_%7C_protein_%20_homodimerization_%20_activity_%20_(GO:0042803)_%7C_S100_%20_protein_%20_binding_%20_(GO:0044548)_%7C_tropomyosin_%20_binding_%20_(GO:0005523)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270) false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false ] [SLC20A1 hg38 chr2 112659764 112659764 SPLICE_SITE INTRON SNP T T C g.chr2:112659764T>C ENST00000272542.8 + c.e8+2T>C c.e8+2 0.41895261845386533 TGACGTAAGGTCAGTTGACAT 91 biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22) L20859 NM_005415.4 NP_005406 HGNC:10946 solute_%20_carrier_%20_family_%20_20_%20_member_%20_1 Approved gene_%20_with_%20_protein_%20_product protein-coding_%20_gene GLVR1 "solute_%20_carrier_%20_family_%20_20_%20_(phosphate_%20_transporter)_%2C__%20_member_%20_1" PiT-1_%2C__%20_Glvr-1 "gibbon_%20_ape_%20_leukemia_%20_virus_%20_receptor_%20_1" 2q14.1 2016-10-05 2016-02-17 6574 ENSG00000144136 8041748_%2C__%20_16790504 NM_005415 752 Solute_%20_carriers CCDS2099 OTTHUMG00000131317 6574 137570 NM_005415 Q8WUM9 ENSG00000144136 uc002tib.4 S20A1_HUMAN Q08344_%7C_Q6DHX8_%7C_Q9UQ82 Q8WUM9 ion_%20_transport_%20_(GO:0006811)_%7C_phosphate_%20_ion_%20_transmembrane_%20_transport_%20_(GO:0035435)_%7C_phosphate-containing_%20_compound_%20_metabolic_%20_process_%20_(GO:0006796)_%7C_positive_%20_regulation_%20_of_%20_I-kappaB_%20_kinase/NF-kappaB_%20_signaling_%20_(GO:0043123)_%7C_signal_%20_transduction_%20_(GO:0007165)_%7C_sodium_%20_ion_%20_transmembrane_%20_transport_%20_(GO:0035725)_%7C_transmembrane_%20_transport_%20_(GO:0055085)_%7C_transport_%20_(GO:0006810) integral_%20_component_%20_of_%20_plasma_%20_membrane_%20_(GO:0005887)_%7C_membrane_%20_(GO:0016020)_%7C_plasma_%20_membrane_%20_(GO:0005886) high-affinity_%20_inorganic_%20_phosphate:sodium_%20_symporter_%20_activity_%20_(GO:0005316)_%7C_inorganic_%20_phosphate_%20_transmembrane_%20_transporter_%20_activity_%20_(GO:0005315)_%7C_receptor_%20_activity_%20_(GO:0004872)_%7C_signal_%20_transducer_%20_activity_%20_(GO:0004871)_%7C_sodium:phosphate_%20_symporter_%20_activity_%20_(GO:0005436) false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false ] [RPL32 hg38 chr3 12839497 12839497 MISSENSE SNP T T C g.chr3:12839497T>C ENST00000429711.7 - 3 207 c.130A>G c.(130-132)Agg>Ggg p.R44G 0.4688279301745636 CTACGAACCCTGTTGTCAATG RPL32_ENST00000396953.6_MISSENSE_p.R44G/RPL32_ENST00000435983.5_MISSENSE_p.R44G/RPL32_ENST00000273223.10_MISSENSE_p.R62G/RPL32_ENST00000396957.5_MISSENSE_p.R44G 90 biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22) X03342 NM_000994.3 NP_000985 HGNC:10336 ribosomal_%20_protein_%20_L32 Approved gene_%20_with_%20_protein_%20_product protein-coding_%20_gene L32 3p25.2 2016-10-05 CA436299_%2C__%20_CF124158_%2C__%20_CR608027 6161 ENSG00000144713 9284913 NM_000994 729 L_%20_ribosomal_%20_proteins CCDS2614 OTTHUMG00000129804 6161 NM_000994 P62910 ENSG00000144713 uc003bxm.4 RL32_HUMAN B2R4Q3_%7C_P02433 P62910 cellular_%20_protein_%20_metabolic_%20_process_%20_(GO:0044267)_%7C_gene_%20_expression_%20_(GO:0010467)_%7C_mRNA_%20_metabolic_%20_process_%20_(GO:0016071)_%7C_nuclear-transcribed_%20_mRNA_%20_catabolic_%20_process_%2C__%20_nonsense-mediated_%20_decay_%20_(GO:0000184)_%7C_RNA_%20_metabolic_%20_process_%20_(GO:0016070)_%7C_SRP-dependent_%20_cotranslational_%20_protein_%20_targeting_%20_to_%20_membrane_%20_(GO:0006614)_%7C_translation_%20_(GO:0006412)_%7C_translational_%20_elongation_%20_(GO:0006414)_%7C_translational_%20_initiation_%20_(GO:0006413)_%7C_translational_%20_termination_%20_(GO:0006415)_%7C_viral_%20_life_%20_cycle_%20_(GO:0019058)_%7C_viral_%20_process_%20_(GO:0016032)_%7C_viral_%20_transcription_%20_(GO:0019083) cytosol_%20_(GO:0005829)_%7C_cytosolic_%20_large_%20_ribosomal_%20_subunit_%20_(GO:0022625)_%7C_membrane_%20_(GO:0016020) poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_structural_%20_constituent_%20_of_%20_ribosome_%20_(GO:0003735) false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false ] [CDCP1 hg38 chr3 45085066 45085066 THREE_PRIME_UTR SNP C C T g.chr3:45085066C>T ENST00000296129.6 - 9 0.4164588528678304 GACAGGCACACGTTTATCTAG 115 biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_salivary_gland(24)_%7C_upper_aerodigestive_tract(1) BC069254 NM_022842.4 NP_073753 HGNC:24357 CUB_%20_domain_%20_containing_%20_protein_%20_1 Approved gene_%20_with_%20_protein_%20_product protein-coding_%20_gene CD318_%2C__%20_SIMA135 3p21.31 2016-10-05 AF468010 64866 ENSG00000163814 11466621 NM_022842 471 CD_%20_molecules CCDS2727_%2C__%20_CCDS46812 OTTHUMG00000133090 64866 611735 NM_022842 Q9H5V8 ENSG00000163814 uc003com.5 hg38 OREG1799014 Type_%3D_TRANSCRIPTION_%20_FACTOR_%20_BINDING_%20_SITE_%7C_Gene_Symbol_%3D_CDCP1_%7C_Gene_ID_%3D_ENSG00000163814_%7C_Gene_Source_%3D_ENSEMBL_%7C_Regulatory_Element_Symbol_%3D_RBL2_%7C_Regulatory_Element_ID_%3D_ENST00000379935_%7C_Regulatory_Element_Source_%3D_ENSEMBL_%7C_PMID_%3D_18971253_%7C_Dataset_%3D_PAZAR CDCP1_HUMAN Q49UB4_%7C_Q6NT71_%7C_Q6U9Y2_%7C_Q8WU91_%7C_Q96QU7_%7C_Q9H676_%7C_Q9H8C2 Q9H5V8 extracellular_%20_region_%20_(GO:0005576)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_plasma_%20_membrane_%20_(GO:0005886) true false 0.6264_%2C_0.3736 false false 1 false true true CDCP1:64866 true true false true true false false false false false false false false false false false false false false false 2176804 45085066 false false 0 true 0 false 0.54378504077471967_%2C_0.45621495922528032 false true false SNV true 0x05010080000517053e000100 1 false 96 rs2176804 ] [EIF4G1 hg38 chr3 184323468 184323468 MISSENSE SNP G G C g.chr3:184323468G>C ENST00000392537.6 + 12 2135 c.1888G>C c.(1888-1890)Gcc>Ccc p.A630P 0.543640897755611 CAAGATCATTGCCACAGTGTT EIF4G1_ENST00000346169.7_MISSENSE_p.A717P/EIF4G1_ENST00000342981.8_MISSENSE_p.A718P/EIF4G1_ENST00000424196.5_MISSENSE_p.A724P/EIF4G1_ENST00000414031.5_MISSENSE_p.A677P/EIF4G1_ENST00000382330.7_MISSENSE_p.A724P/EIF4G1_ENST00000427845.5_MISSENSE_p.A631P/EIF4G1_ENST00000434061.6_MISSENSE_p.A522P/EIF4G1_ENST00000350481.9_MISSENSE_p.A553P/EIF4G1_ENST00000411531.5_MISSENSE_p.A678P/EIF4G1_ENST00000435046.6_MISSENSE_p.A521P/EIF4G1_ENST00000441154.5_MISSENSE_p.A554P/EIF4G1_ENST00000352767.7_MISSENSE_p.A724P/SNORD66_ENST00000390856.1_FIVE_PRIME_FLANK 342 biliary_tract(2)_%7C_breast(49)_%7C_central_nervous_system(44)_%7C_large_intestine(37)_%7C_lung(188)_%7C_pancreas(22) D12686 NM_198244.2 NP_937887 HGNC:3296 eukaryotic_%20_translation_%20_initiation_%20_factor_%20_4_%20_gamma_%20_1 Approved gene_%20_with_%20_protein_%20_product protein-coding_%20_gene EIF4G_%2C__%20_EIF4F "eukaryotic_%20_translation_%20_initiation_%20_factor_%20_4_%20_gamma_%2C__%20_1" p220_%2C__%20_PARK18 3q27.1 2016-04-25 2016-02-03 D12686 1981 ENSG00000114867 1429670_%2C__%20_9372926_%2C__%20_21907011 NM_182917 672 Parkinson_%20_disease_%20_associated_%20_genes CCDS3259_%2C__%20_CCDS3260_%2C__%20_CCDS3261_%2C__%20_CCDS46970_%2C__%20_CCDS54687_%2C__%20_CCDS54688_%2C__%20_CCDS77866 OTTHUMG00000156784 1981 600495 NM_001194946 Q04637 ENSG00000114867 uc003fnp.4 hg38 OREG1937126 Type_%3D_TRANSCRIPTION_%20_FACTOR_%20_BINDING_%20_SITE_%7C_Gene_Symbol_%3D_EIF4G1_%7C_Gene_ID_%3D_ENSG00000114867_%7C_Gene_Source_%3D_ENSEMBL_%7C_Regulatory_Element_Symbol_%3D_VDR_%7C_Regulatory_Element_ID_%3D_ENST00000395324_%7C_Regulatory_Element_Source_%3D_ENSEMBL_%7C_PMID_%3D_18971253_%7C_Dataset_%3D_PAZAR IF4G1_HUMAN D3DNT2_%7C_D3DNT4_%7C_D3DNT5_%7C_E9PFM1_%7C_G5E9S1_%7C_O43177_%7C_O95066_%7C_Q5HYG0_%7C_Q6ZN21_%7C_Q8N102 Q04637 cell_%20_death_%20_(GO:0008219)_%7C_cellular_%20_protein_%20_metabolic_%20_process_%20_(GO:0044267)_%7C_cytokine-mediated_%20_signaling_%20_pathway_%20_(GO:0019221)_%7C_gene_%20_expression_%20_(GO:0010467)_%7C_insulin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0008286)_%7C_lung_%20_development_%20_(GO:0030324)_%7C_mRNA_%20_metabolic_%20_process_%20_(GO:0016071)_%7C_nuclear-transcribed_%20_mRNA_%20_catabolic_%20_process_%2C__%20_deadenylation-dependent_%20_decay_%20_(GO:0000288)_%7C_nuclear-transcribed_%20_mRNA_%20_catabolic_%20_process_%2C__%20_nonsense-mediated_%20_decay_%20_(GO:0000184)_%7C_nuclear-transcribed_%20_mRNA_%20_poly(A)_%20_tail_%20_shortening_%20_(GO:0000289)_%7C_regulation_%20_of_%20_translational_%20_initiation_%20_(GO:0006446)_%7C_response_%20_to_%20_ethanol_%20_(GO:0045471)_%7C_RNA_%20_metabolic_%20_process_%20_(GO:0016070)_%7C_translation_%20_(GO:0006412)_%7C_translational_%20_initiation_%20_(GO:0006413)_%7C_viral_%20_process_%20_(GO:0016032) cytosol_%20_(GO:0005829)_%7C_eukaryotic_%20_translation_%20_initiation_%20_factor_%20_4F_%20_complex_%20_(GO:0016281)_%7C_membrane_%20_(GO:0016020) poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_translation_%20_factor_%20_activity_%2C__%20_nucleic_%20_acid_%20_binding_%20_(GO:0008135)_%7C_translation_%20_initiation_%20_factor_%20_activity_%20_(GO:0003743) true false false false false false false EIF4G1:1981 false true false false false false false false false false false true false false false false false false false true 111396765 184323468 false false 0 false 0 false 0.99919565494393476_%2C_0.00080434505606523 false false false SNV true 0x050000000a05040402000100 1 false 132 rs111396765 ] [CDKN1A hg38 chr6 36674793 36674793 FIVE_PRIME_FLANK SNP G G A g.chr6:36674793G>A ENST00000244741.10 + 0.513715710723192 ATCCAGGTTGGTAACACTGAT CDKN1A_ENST00000373711.3_FIVE_PRIME_FLANK/CDKN1A_ENST00000405375.5_FIVE_PRIME_FLANK/CDKN1A_ENST00000448526.6_FIVE_PRIME_FLANK/CDKN1A_ENST00000615513.4_FIVE_PRIME_FLANK/LAP3P2_ENST00000454686.1_RNA/PANDAR_ENST00000629595.1_RNA 1170 biliary_tract(27)_%7C_breast(185)_%7C_central_nervous_system(61)_%7C_haematopoietic_and_lymphoid_tissue(68)_%7C_kidney(112)_%7C_large_intestine(11)_%7C_lung(323)_%7C_ovary(124)_%7C_pancreas(30)_%7C_prostate(58)_%7C_salivary_gland(24)_%7C_skin(74)_%7C_soft_tissue(22)_%7C_upper_aerodigestive_tract(1)_%7C_urinary_tract(50) Z85996 NM_000389.4 NP_000380 HGNC:1784 cyclin_%20_dependent_%20_kinase_%20_inhibitor_%20_1A Approved gene_%20_with_%20_protein_%20_product protein-coding_%20_gene CDKN1 "cyclin-dependent_%20_kinase_%20_inhibitor_%20_1A_%20_(p21_%2C__%20_Cip1)" P21_%2C__%20_CIP1_%2C__%20_WAF1_%2C__%20_SDI1_%2C__%20_CAP20_%2C__%20_p21CIP1_%2C__%20_p21Cip1/Waf1 6p21.2 2017-07-07 2016-06-08 U03106 1026 ENSG00000124762 NM_078467 CCDS4824 OTTHUMG00000014603 1026 116899 NM_000389 P38936 ENSG00000124762 uc021yzc.2 CDN1A_HUMAN Q14010_%7C_Q6FI05_%7C_Q9BUT4 P38936 cell_%20_cycle_%20_arrest_%20_(GO:0007050)_%7C_cellular_%20_response_%20_to_%20_DNA_%20_damage_%20_stimulus_%20_(GO:0006974)_%7C_cellular_%20_response_%20_to_%20_extracellular_%20_stimulus_%20_(GO:0031668)_%7C_cellular_%20_response_%20_to_%20_ionizing_%20_radiation_%20_(GO:0071479)_%7C_cellular_%20_senescence_%20_(GO:0090398)_%7C_DNA_%20_damage_%20_response_%2C__%20_signal_%20_transduction_%20_by_%20_p53_%20_class_%20_mediator_%20_resulting_%20_in_%20_cell_%20_cycle_%20_arrest_%20_(GO:0006977)_%7C_epidermal_%20_growth_%20_factor_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007173)_%7C_Fc-epsilon_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0038095)_%7C_fibroblast_%20_growth_%20_factor_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0008543)_%7C_G1/S_%20_transition_%20_of_%20_mitotic_%20_cell_%20_cycle_%20_(GO:0000082)_%7C_G2/M_%20_transition_%20_of_%20_mitotic_%20_cell_%20_cycle_%20_(GO:0000086)_%7C_innate_%20_immune_%20_response_%20_(GO:0045087)_%7C_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_(GO:0097193)_%7C_intrinsic_%20_apoptotic_%20_signaling_%20_pathway_%20_in_%20_response_%20_to_%20_DNA_%20_damage_%20_by_%20_p53_%20_class_%20_mediator_%20_(GO:0042771)_%7C_mitotic_%20_cell_%20_cycle_%20_(GO:0000278)_%7C_mitotic_%20_cell_%20_cycle_%20_arrest_%20_(GO:0071850)_%7C_negative_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043066)_%7C_negative_%20_regulation_%20_of_%20_cell_%20_growth_%20_(GO:0030308)_%7C_negative_%20_regulation_%20_of_%20_cell_%20_proliferation_%20_(GO:0008285)_%7C_negative_%20_regulation_%20_of_%20_cyclin-dependent_%20_protein_%20_serine/threonine_%20_kinase_%20_activity_%20_(GO:0045736)_%7C_negative_%20_regulation_%20_of_%20_gene_%20_expression_%20_(GO:0010629)_%7C_negative_%20_regulation_%20_of_%20_phosphorylation_%20_(GO:0042326)_%7C_neurotrophin_%20_TRK_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0048011)_%7C_organ_%20_regeneration_%20_(GO:0031100)_%7C_phosphatidylinositol-mediated_%20_signaling_%20_(GO:0048015)_%7C_positive_%20_regulation_%20_of_%20_B_%20_cell_%20_proliferation_%20_(GO:0030890)_%7C_positive_%20_regulation_%20_of_%20_fibroblast_%20_proliferation_%20_(GO:0048146)_%7C_positive_%20_regulation_%20_of_%20_programmed_%20_cell_%20_death_%20_(GO:0043068)_%7C_positive_%20_regulation_%20_of_%20_protein_%20_kinase_%20_activity_%20_(GO:0045860)_%7C_positive_%20_regulation_%20_of_%20_reactive_%20_oxygen_%20_species_%20_metabolic_%20_process_%20_(GO:2000379)_%7C_protein_%20_phosphorylation_%20_(GO:0006468)_%7C_Ras_%20_protein_%20_signal_%20_transduction_%20_(GO:0007265)_%7C_regulation_%20_of_%20_cyclin-dependent_%20_protein_%20_serine/threonine_%20_kinase_%20_activity_%20_(GO:0000079)_%7C_regulation_%20_of_%20_DNA_%20_biosynthetic_%20_process_%20_(GO:2000278)_%7C_regulation_%20_of_%20_protein_%20_import_%20_into_%20_nucleus_%2C__%20_translocation_%20_(GO:0033158)_%7C_response_%20_to_%20_arsenic-containing_%20_substance_%20_(GO:0046685)_%7C_response_%20_to_%20_corticosterone_%20_(GO:0051412)_%7C_response_%20_to_%20_drug_%20_(GO:0042493)_%7C_response_%20_to_%20_hyperoxia_%20_(GO:0055093)_%7C_response_%20_to_%20_organonitrogen_%20_compound_%20_(GO:0010243)_%7C_response_%20_to_%20_toxic_%20_substance_%20_(GO:0009636)_%7C_response_%20_to_%20_UV_%20_(GO:0009411)_%7C_stress-induced_%20_premature_%20_senescence_%20_(GO:0090400) cyclin-dependent_%20_protein_%20_kinase_%20_holoenzyme_%20_complex_%20_(GO:0000307)_%7C_cytosol_%20_(GO:0005829)_%7C_intracellular_%20_membrane-bounded_%20_organelle_%20_(GO:0043231)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634)_%7C_PCNA-p21_%20_complex_%20_(GO:0070557) cyclin-dependent_%20_protein_%20_kinase_%20_activating_%20_kinase_%20_activity_%20_(GO:0019912)_%7C_cyclin-dependent_%20_protein_%20_serine/threonine_%20_kinase_%20_inhibitor_%20_activity_%20_(GO:0004861)_%7C_metal_%20_ion_%20_binding_%20_(GO:0046872)_%7C_ubiquitin_%20_protein_%20_ligase_%20_binding_%20_(GO:0031625) false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false ] [DSE hg38 chr6 116258561 116258561 FIVE_PRIME_UTR SNP G G C g.chr6:116258561G>C ENST00000647244.1 + 2 0.5062344139650873 CATAGGAGTTGGAGGAGCCCT TSPYL4_ENST00000420283.3_FIVE_PRIME_FLANK/AL050331.1_ENST00000435100.1_RNA 91 biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22) HGNC:21144 dermatan_%20_sulfate_%20_epimerase Approved gene_%20_with_%20_protein_%20_product protein-coding_%20_gene SART2 "squamous_%20_cell_%20_carcinoma_%20_antigen_%20_recognized_%20_by_%20_T_%20_cells_%20_2" DSEPI_%2C__%20_DS-Epi1 6q22.1 2017-02-21 2007-01-29 2007-01-29 AF098066 5.1.3.19 29940 ENSG00000111817 11920522_%2C__%20_16505484 NM_013352 CCDS5107 OTTHUMG00000015434 29940 605942 NM_001080976 Q9UL01 ENSG00000111817 uc003pws.5 hg38 OREG1501106 Type_%3D_TRANSCRIPTION_%20_FACTOR_%20_BINDING_%20_SITE_%7C_Gene_Symbol_%3D_DSE_%7C_Gene_ID_%3D_ENSG00000111817_%7C_Gene_Source_%3D_ENSEMBL_%7C_Regulatory_Element_Symbol_%3D_EGR1_%7C_Regulatory_Element_ID_%3D_ENST00000239938_%7C_Regulatory_Element_Source_%3D_ENSEMBL_%7C_PMID_%3D_18971253_%7C_Dataset_%3D_PAZAR DSE_HUMAN Q5R3K6 Q9UL01 carbohydrate_%20_metabolic_%20_process_%20_(GO:0005975)_%7C_chondroitin_%20_sulfate_%20_biosynthetic_%20_process_%20_(GO:0030206)_%7C_chondroitin_%20_sulfate_%20_metabolic_%20_process_%20_(GO:0030204)_%7C_dermatan_%20_sulfate_%20_biosynthetic_%20_process_%20_(GO:0030208)_%7C_glycosaminoglycan_%20_metabolic_%20_process_%20_(GO:0030203)_%7C_heparan_%20_sulfate_%20_proteoglycan_%20_biosynthetic_%20_process_%20_(GO:0015012)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281) endoplasmic_%20_reticulum_%20_(GO:0005783)_%7C_Golgi_%20_apparatus_%20_(GO:0005794)_%7C_Golgi_%20_membrane_%20_(GO:0000139)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021) chondroitin-glucuronate_%20_5-epimerase_%20_activity_%20_(GO:0047757) true false false false false false false DSE:29940 false false false false false false false false false false false false false false false false false false false false 775212359 116258561 false false 0 false 0 false 0.99991239806320081_%2C_0.00008760193679918 false false true SNV true 0x050000400005040002000100 1 false 144 rs775212359 ] [DSE hg38 chr6 116258728 116258728 FIVE_PRIME_UTR SNP A A G g.chr6:116258728A>G ENST00000647244.1 + 2 0.571072319201995 GTCCCGGCGCACCCAATGCGT TSPYL4_ENST00000420283.3_FIVE_PRIME_FLANK/AL050331.1_ENST00000435100.1_RNA 91 biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22) HGNC:21144 dermatan_%20_sulfate_%20_epimerase Approved gene_%20_with_%20_protein_%20_product protein-coding_%20_gene SART2 "squamous_%20_cell_%20_carcinoma_%20_antigen_%20_recognized_%20_by_%20_T_%20_cells_%20_2" DSEPI_%2C__%20_DS-Epi1 6q22.1 2017-02-21 2007-01-29 2007-01-29 AF098066 5.1.3.19 29940 ENSG00000111817 11920522_%2C__%20_16505484 NM_013352 CCDS5107 OTTHUMG00000015434 29940 605942 NM_001080976 Q9UL01 ENSG00000111817 uc003pws.5 hg38 OREG1501106 Type_%3D_TRANSCRIPTION_%20_FACTOR_%20_BINDING_%20_SITE_%7C_Gene_Symbol_%3D_DSE_%7C_Gene_ID_%3D_ENSG00000111817_%7C_Gene_Source_%3D_ENSEMBL_%7C_Regulatory_Element_Symbol_%3D_EGR1_%7C_Regulatory_Element_ID_%3D_ENST00000239938_%7C_Regulatory_Element_Source_%3D_ENSEMBL_%7C_PMID_%3D_18971253_%7C_Dataset_%3D_PAZAR DSE_HUMAN Q5R3K6 Q9UL01 carbohydrate_%20_metabolic_%20_process_%20_(GO:0005975)_%7C_chondroitin_%20_sulfate_%20_biosynthetic_%20_process_%20_(GO:0030206)_%7C_chondroitin_%20_sulfate_%20_metabolic_%20_process_%20_(GO:0030204)_%7C_dermatan_%20_sulfate_%20_biosynthetic_%20_process_%20_(GO:0030208)_%7C_glycosaminoglycan_%20_metabolic_%20_process_%20_(GO:0030203)_%7C_heparan_%20_sulfate_%20_proteoglycan_%20_biosynthetic_%20_process_%20_(GO:0015012)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281) endoplasmic_%20_reticulum_%20_(GO:0005783)_%7C_Golgi_%20_apparatus_%20_(GO:0005794)_%7C_Golgi_%20_membrane_%20_(GO:0000139)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021) chondroitin-glucuronate_%20_5-epimerase_%20_activity_%20_(GO:0047757) true false false false false false false DSE:29940 false false false false false false false false false false false false false false false false false false false false 769261765 116258728 false false 0 false 0 false 0.99988850662589194_%2C_0.00011149337410805 false false true SNV true 0x050000400005040002000100 1 false 144 rs769261765 ] [CHCHD3 hg38 chr7 133035782 133035782 INTRON SNP A A G g.chr7:133035782A>G ENST00000262570.10 - c.e3+11155T>C 0.5486284289276808 AGAAATTCAGAGGTGCGGTTG CHCHD3_ENST00000448878.6_INTRON/AC008038.1_ENST00000634247.1_RNA/MIR3654_ENST00000639535.1_FIVE_PRIME_FLANK 90 biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22) CH471070 NM_017812.3 NP_060282 HGNC:21906 coiled-coil-helix-coiled-coil-helix_%20_domain_%20_containing_%20_3 Approved gene_%20_with_%20_protein_%20_product protein-coding_%20_gene FLJ20420_%2C__%20_MINOS3_%2C__%20_PPP1R22_%2C__%20_Mic19 "mitochondrial_%20_inner_%20_membrane_%20_organizing_%20_system_%20_3"_%2C__%20_"protein_%20_phosphatase_%20_1_%2C__%20_regulatory_%20_subunit_%20_22" 7q32.3-q33 2017-06-08 BC011596 54927 ENSG00000106554 22252321_%2C__%20_23019327_%2C__%20_21081504_%2C__%20_17624330 NM_017812 489_%7C_694 Mitochondrial_%20_coiled-coil-helix-coiled-coil-helix_%20_domain_%20_containing_%20_proteins_%7C_Protein_%20_phosphatase_%20_1_%20_regulatory_%20_subunits CCDS5828 OTTHUMG00000155231 54927 613748 NM_001317177 Q9NX63 ENSG00000106554 uc003vre.4 MIC19_HUMAN Q9NX63 inner_%20_mitochondrial_%20_membrane_%20_organization_%20_(GO:0007007)_%7C_mitochondrial_%20_fusion_%20_(GO:0008053)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122) cytoplasm_%20_(GO:0005737)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_mitochondrial_%20_inner_%20_membrane_%20_(GO:0005743)_%7C_mitochondrion_%20_(GO:0005739)_%7C_nucleus_%20_(GO:0005634) phosphatase_%20_binding_%20_(GO:0019902)_%7C_protein_%20_complex_%20_scaffold_%20_(GO:0032947)_%7C_RNA_%20_polymerase_%20_II_%20_transcription_%20_regulatory_%20_region_%20_sequence-specific_%20_DNA_%20_binding_%20_transcription_%20_factor_%20_activity_%20_involved_%20_in_%20_negative_%20_regulation_%20_of_%20_transcription_%20_(GO:0001227) true false false false false false false MIR3654:100500804_%7C_CHCHD3:54927 false false true false false false false false false false false false false false false false false false true false 12667368 133035782 false false 0 false 1 false 0.99991239806320081_%2C_0.00008760193679918 false false false SNV false 0x0500000a0005000002000140 1 false 120 rs12667368 ] [VIM hg38 chr10 17234819 17234819 SPLICE_SITE INTRON SNP G G A g.chr10:17234819G>A ENST00000224237.9 + c.e5+1G>A c.e5+1 0.4239401496259352 TAAAGGAACCGTGAGTACCAA AL133415.1_ENST00000456355.1_RNA 326 biliary_tract(2)_%7C_breast(48)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(37)_%7C_lung(1)_%7C_ovary(66)_%7C_pancreas(22)_%7C_thymus(14) Z19554 HGNC:12692 vimentin Approved gene_%20_with_%20_protein_%20_product protein-coding_%20_gene 10p13 2015-08-26 M14144 7431 ENSG00000026025 NM_003380 610 Intermediate_%20_filaments_%20_Type_%20_III CCDS7120 OTTHUMG00000017744 7431 193060 NM_003380 P08670 ENSG00000026025 uc001iou.3 VIME_HUMAN B0YJC2_%7C_D3DRU4_%7C_Q15867_%7C_Q15868_%7C_Q15869_%7C_Q548L2_%7C_Q6LER9_%7C_Q8N850_%7C_Q96ML2_%7C_Q9NTM3 P08670 apoptotic_%20_process_%20_(GO:0006915)_%7C_astrocyte_%20_development_%20_(GO:0014002)_%7C_Bergmann_%20_glial_%20_cell_%20_differentiation_%20_(GO:0060020)_%7C_cellular_%20_component_%20_disassembly_%20_involved_%20_in_%20_execution_%20_phase_%20_of_%20_apoptosis_%20_(GO:0006921)_%7C_cellular_%20_component_%20_movement_%20_(GO:0006928)_%7C_intermediate_%20_filament_%20_organization_%20_(GO:0045109)_%7C_lens_%20_fiber_%20_cell_%20_development_%20_(GO:0070307)_%7C_muscle_%20_filament_%20_sliding_%20_(GO:0030049)_%7C_negative_%20_regulation_%20_of_%20_neuron_%20_projection_%20_development_%20_(GO:0010977)_%7C_positive_%20_regulation_%20_of_%20_gene_%20_expression_%20_(GO:0010628)_%7C_viral_%20_process_%20_(GO:0016032) cell_%20_leading_%20_edge_%20_(GO:0031252)_%7C_cytoplasm_%20_(GO:0005737)_%7C_cytoskeleton_%20_(GO:0005856)_%7C_cytosol_%20_(GO:0005829)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_focal_%20_adhesion_%20_(GO:0005925)_%7C_intermediate_%20_filament_%20_(GO:0005882)_%7C_intermediate_%20_filament_%20_cytoskeleton_%20_(GO:0045111)_%7C_neuron_%20_projection_%20_(GO:0043005)_%7C_peroxisome_%20_(GO:0005777)_%7C_plasma_%20_membrane_%20_(GO:0005886) double-stranded_%20_RNA_%20_binding_%20_(GO:0003725)_%7C_glycoprotein_%20_binding_%20_(GO:0001948)_%7C_identical_%20_protein_%20_binding_%20_(GO:0042802)_%7C_protein_%20_C-terminus_%20_binding_%20_(GO:0008022)_%7C_scaffold_%20_protein_%20_binding_%20_(GO:0097110)_%7C_structural_%20_constituent_%20_of_%20_cytoskeleton_%20_(GO:0005200)_%7C_structural_%20_constituent_%20_of_%20_eye_%20_lens_%20_(GO:0005212) true false false false true false false VIM:7431 false false false false false false false false false false false false false false false false false false false false 878865898 17234819 false false 0 false 0 false 0.99999203618756371_%2C_0.00000796381243628 false false false SNV false 0x050000100005000002000100 1 false 147 rs878865898 ] [LOXL4 hg38 chr10 98259087 98259087 SILENT SNP G G A g.chr10:98259087G>A ENST00000260702.4 - 6 938 c.843C>T c.(841-843)caC>caT p.H281H 0.6384039900249376 TGACCACAGCGTGCATGCCAC 184 biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_kidney(92)_%7C_large_intestine(11)_%7C_lung(2)_%7C_pancreas(22) CH471066 NM_032211.6 NP_115587 HGNC:17171 lysyl_%20_oxidase_%20_like_%20_4 Approved gene_%20_with_%20_protein_%20_product protein-coding_%20_gene "lysyl_%20_oxidase-like_%20_4" FLJ21889_%2C__%20_LOXC 10q24.2 2016-10-05 2015-11-27 AF338441 84171 ENSG00000138131 11292829 NM_032211 1404 Scavenger_%20_receptor_%20_cysteine_%20_rich_%20_domain_%20_containing CCDS7473 OTTHUMG00000018874 84171 607318 NM_032211 Q96JB6 ENSG00000138131 uc001kpa.2 LOXL4_HUMAN Q5W0B3_%7C_Q96DY1_%7C_Q96PC0_%7C_Q9H6T5 Q96JB6 extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_membrane_%20_(GO:0016020)_%7C_receptor_%20_complex_%20_(GO:0043235) copper_%20_ion_%20_binding_%20_(GO:0005507)_%7C_protein-lysine_%20_6-oxidase_%20_activity_%20_(GO:0004720)_%7C_scavenger_%20_receptor_%20_activity_%20_(GO:0005044) true false 0.4984_%2C_0.5016_%2C_. false false 1 false true true LOXL4:84171 true false false true true false false false false false false true false false false false false false false true 7077073 98259087 false false 0 true 0 true 0.57266182466870540_%2C_0.42183518093781855_%2C_0.00550299439347604 false false false SNV true 0x050100000b0517013e000100 1 false 116 rs7077073 ] [EIF2S3B hg38 chr12 10507138 10507138 SILENT SNP G G A g.chr12:10507138G>A ENST00000322446.3 + 1 1537 c.1236G>A c.(1234-1236)tcG>tcA p.S412S 0.4488778054862843 GATCCCTGTCGACAGGAGGGA EIF2S3B_ENST00000538173.1_SILENT_p.S412S AC068775 true false false false false false false EIF2S3L:255308_%7C_LOC105369657:105369657 false false true false false false false false false false false false false false false false false false false true 752230909 10507138 false false 0 false 1 true 0.99981683231396534_%2C_0.00018316768603465 false false false SNV true 0x050000080305040002000140 1 false 144 rs752230909 ] [RPL3P4 hg38 chr14 98973239 98973239 RNA SNP G G A g.chr14:98973239G>A ENST00000417615.1 - c.e1-62C>T 0.5386533665835411 CAATCTTATAGATCTTCTTGT AL162151.2_ENST00000448875.1_FIVE_PRIME_FLANK HGNC:19805 ribosomal_%20_protein_%20_L3_%20_pseudogene_%20_4 Approved pseudogene pseudogene 14q32.2 2011-03-17 326307 ENSG00000232573 OTTHUMG00000028964 326307 NG_002559 ENSG00000232573 true false 0.9998_%2C_0.0001997 false false 0 false false false false false false false true false false false false false false false false false false false false false false false 572282376 98973239 false false 0 false 1 false 0.99983275993883792_%2C_0.00016724006116207 false false false SNV false 0x050000000005000026000140 1 false 142 rs572282376 ] [COX4I1 hg38 chr16 85805047 85805047 SILENT SNP T T C g.chr16:85805047T>C ENST00000568794.5 + 3 255 c.184T>C c.(184-186)Ttg>Ctg p.L62L 0.5286783042394015 CCAGAAGGCATTGAAGGAGAA COX4I1_ENST00000562336.5_SILENT_p.L62L/COX4I1_ENST00000253452.8_SILENT_p.L62L/COX4I1_ENST00000561569.5_SILENT_p.L62L/COX4I1_ENST00000564903.1_SILENT_p.L62L 473 biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(289)_%7C_kidney(93)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22) AC018695 NM_001318794.1 NP_001305723 HGNC:2265 cytochrome_%20_c_%20_oxidase_%20_subunit_%20_4I1 Approved gene_%20_with_%20_protein_%20_product protein-coding_%20_gene COX4 "cytochrome_%20_c_%20_oxidase_%20_subunit_%20_IV"_%2C__%20_"cytochrome_%20_c_%20_oxidase_%20_subunit_%20_IV_%20_isoform_%20_1" COX4-1 16q24.1 2016-02-11 2001-12-07 2016-02-11 AF005889 1.9.3.1 1327 ENSG00000131143 2444497_%2C__%20_2157630 NM_001861 643 Mitochondrial_%20_complex_%20_IV:_%20_cytochrome_%20_c_%20_oxidase_%20_subunits CCDS10955_%2C__%20_CCDS82020 OTTHUMG00000137649 1327 123864 NM_001318786 P13073 ENSG00000131143 uc059yaj.1 COX41_HUMAN B2R4J2_%7C_D3DUM7_%7C_Q6P666 P13073 cellular_%20_metabolic_%20_process_%20_(GO:0044237)_%7C_generation_%20_of_%20_precursor_%20_metabolites_%20_and_%20_energy_%20_(GO:0006091)_%7C_hydrogen_%20_ion_%20_transmembrane_%20_transport_%20_(GO:1902600)_%7C_respiratory_%20_electron_%20_transport_%20_chain_%20_(GO:0022904)_%7C_response_%20_to_%20_nutrient_%20_(GO:0007584)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281) extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_membrane_%20_(GO:0016020)_%7C_mitochondrial_%20_inner_%20_membrane_%20_(GO:0005743)_%7C_mitochondrion_%20_(GO:0005739)_%7C_nucleus_%20_(GO:0005634) cytochrome-c_%20_oxidase_%20_activity_%20_(GO:0004129) true false 0.02296_%2C_._%2C_0.977 false false 1 false true false COX4I1:1327 true true false true true false false false false false false true false false false true true false false true 2599091 85805047 false true 0 true 0 true 0.02749108053007135_%2C_._%2C_0.97250891946992864 false false true SNV true 0x050328400b0515053e000100 1 false 100 rs2599091 ] [TTC19 hg38 chr17 16000196 16000196 MISSENSE SNP G G A g.chr17:16000196G>A ENST00000261647.10 + 2 288 c.263G>A c.(262-264)gGg>gAg p.G88E 0.7331670822942643 GCCGAGGACGGGGCGGACGAG ZSWIM7_ENST00000399277.6_FIVE_PRIME_FLANK/ZSWIM7_ENST00000472495.5_FIVE_PRIME_FLANK/ZSWIM7_ENST00000486655.5_FIVE_PRIME_FLANK 90 biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22) CH471222 NM_017775.3 NP_060245 HGNC:26006 tetratricopeptide_%20_repeat_%20_domain_%20_19 Approved gene_%20_with_%20_protein_%20_product protein-coding_%20_gene FLJ20343_%2C__%20_MGC19520 17p12 2016-10-05 AK094819 54902 ENSG00000011295 NM_017775 769 Tetratricopeptide_%20_repeat_%20_domain_%20_containing CCDS11174 OTTHUMG00000059306 54902 613814 NM_001271420 Q6DKK2 ENSG00000011295 uc002gph.4 hg38 OREG1249827 Type_%3D_TRANSCRIPTION_%20_FACTOR_%20_BINDING_%20_SITE_%7C_Gene_Symbol_%3D_TTC19_%7C_Gene_ID_%3D_ENSG00000011295_%7C_Gene_Source_%3D_ENSEMBL_%7C_Regulatory_Element_Symbol_%3D_SMARCA4_%7C_Regulatory_Element_ID_%3D_ENST00000344626_%7C_Regulatory_Element_Source_%3D_ENSEMBL_%7C_PMID_%3D_18971253_%7C_Dataset_%3D_PAZAR TTC19_HUMAN A8MZ52_%7C_B3KP62_%7C_B4DN65_%7C_Q2M248_%7C_Q7L3U8_%7C_Q9H6G3_%7C_Q9NXB2 Q6DKK2 cytokinesis_%20_(GO:0000910)_%7C_mitochondrial_%20_respiratory_%20_chain_%20_complex_%20_III_%20_assembly_%20_(GO:0034551) centrosome_%20_(GO:0005813)_%7C_midbody_%20_(GO:0030496)_%7C_mitochondrial_%20_inner_%20_membrane_%20_(GO:0005743)_%7C_mitochondrion_%20_(GO:0005739) false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false ] [RPL13P12 hg38 chr17 17383536 17383536 RNA SNP A A G g.chr17:17383536A>G ENST00000392730.2 - c.e1+159T>C 0.5261845386533666 TCTTATAGACATTCCGGATGG HGNC:35701 ribosomal_%20_protein_%20_L13_%20_pseudogene_%20_12 Approved pseudogene pseudogene 17p11.2 2017-10-30 388344 ENSG00000215030 19123937 NG_007541 OTTHUMG00000059294 388344 NG_007541 true false false false false false false false false false false false false false false false false false false false false false false false false false false 757400310 17383536 false false 0 false 0 false 0.99990443425076452_%2C_0.00009556574923547 false false false SNV false 0x050000000005000002000100 1 false 144 rs757400310 ] [RPL13P12 hg38 chr17 17383544 17383544 RNA SNP T T C g.chr17:17383544T>C ENST00000392730.2 - c.e1+167A>G 0.543640897755611 ACATTCCGGATGGGCATGACC HGNC:35701 ribosomal_%20_protein_%20_L13_%20_pseudogene_%20_12 Approved pseudogene pseudogene 17p11.2 2017-10-30 388344 ENSG00000215030 19123937 NG_007541 OTTHUMG00000059294 388344 NG_007541 true false false false false false false false false false false false false false false false false false false false false false false false false false false 746331606 17383544 false false 0 false 1 false 0.99990443425076452_%2C_0.00009556574923547 false false false SNV false 0x050000000005000002000140 1 false 144 rs746331606 ] [ACTG1 hg38 chr17 81512782 81512782 FIVE_PRIME_UTR SNP C C T g.chr17:81512782C>T ENST00000575087.5 - 1 0.7605985037406484 AGTGCGAGAGCTGGCAGCGGC ACTG1_ENST00000573283.7_FIVE_PRIME_UTR/ACTG1_ENST00000644774.1_FIVE_PRIME_UTR/ACTG1_ENST00000575842.5_FIVE_PRIME_FLANK/ACTG1_ENST00000615544.4_FIVE_PRIME_FLANK 90 biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22) X04098 HGNC:144 actin_%20_gamma_%20_1 Approved gene_%20_with_%20_protein_%20_product protein-coding_%20_gene ACTG_%2C__%20_DFNA20_%2C__%20_DFNA26 "deafness_%2C__%20_autosomal_%20_dominant_%20_20"_%2C__%20_"deafness_%2C__%20_autosomal_%20_dominant_%20_26" 17q25.3 2016-02-26 2015-01-19 71 ENSG00000184009 14684684 NM_001614 1152_%7C_929 Deafness_%20_associated_%20_genes_%7C_Actins CCDS11782 OTTHUMG00000177955 71 102560 NM_001199954 P63261 ENSG00000184009 uc002kal.3 hg38 OREG1237358 Type_%3D_TRANSCRIPTION_%20_FACTOR_%20_BINDING_%20_SITE_%7C_Gene_Symbol_%3D_ACTG1_%7C_Gene_ID_%3D_ENSG00000184009_%7C_Gene_Source_%3D_ENSEMBL_%7C_Regulatory_Element_Symbol_%3D_SMARCA4_%7C_Regulatory_Element_ID_%3D_ENST00000344626_%7C_Regulatory_Element_Source_%3D_ENSEMBL_%7C_PMID_%3D_18971253_%7C_Dataset_%3D_PAZAR ACTG_HUMAN A8K7C2_%7C_P02571_%7C_P14104_%7C_P99022_%7C_Q5U032_%7C_Q96E67 P63261 adherens_%20_junction_%20_organization_%20_(GO:0034332)_%7C_axon_%20_guidance_%20_(GO:0007411)_%7C_cell_%20_junction_%20_assembly_%20_(GO:0034329)_%7C_cell-cell_%20_junction_%20_organization_%20_(GO:0045216)_%7C_cellular_%20_component_%20_movement_%20_(GO:0006928)_%7C_Fc-gamma_%20_receptor_%20_signaling_%20_pathway_%20_involved_%20_in_%20_phagocytosis_%20_(GO:0038096)_%7C_innate_%20_immune_%20_response_%20_(GO:0045087)_%7C_membrane_%20_organization_%20_(GO:0061024)_%7C_platelet_%20_aggregation_%20_(GO:0070527)_%7C_retina_%20_homeostasis_%20_(GO:0001895)_%7C_sarcomere_%20_organization_%20_(GO:0045214) blood_%20_microparticle_%20_(GO:0072562)_%7C_cytoskeleton_%20_(GO:0005856)_%7C_cytosol_%20_(GO:0005829)_%7C_extracellular_%20_space_%20_(GO:0005615)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_filamentous_%20_actin_%20_(GO:0031941)_%7C_membrane_%20_(GO:0016020)_%7C_myofibril_%20_(GO:0030016)_%7C_nucleus_%20_(GO:0005634) ATP_%20_binding_%20_(GO:0005524)_%7C_identical_%20_protein_%20_binding_%20_(GO:0042802)_%7C_structural_%20_constituent_%20_of_%20_cytoskeleton_%20_(GO:0005200) true false 0.2656_%2C_._%2C_0.7344 false false 1 false true true FSCN2:25794_%7C_ACTG1:71 true true false true true false false false false false false false false false false false false false true false 7503278 81512782 true false 0 true 0 false 0.09464194699286442_%2C_0.16333779306829765_%2C_0.74202025993883792 false false true SNV true 0x050100420005170536000100 1 false 116 rs7503278 ] [DNMT1 hg38 chr19 10140873 10140873 MISSENSE SNP C C T g.chr19:10140873C>T ENST00000340748.8 - 31 3619 c.3383G>A c.(3382-3384)aGc>aAc p.S1128N 0.5785536159600998 CTCTGGCTCGCTCGGCTCACA DNMT1_ENST00000359526.9_MISSENSE_p.S1144N 2877 biliary_tract(2)_%7C_breast(185)_%7C_central_nervous_system(61)_%7C_haematopoietic_and_lymphoid_tissue(2156)_%7C_kidney(112)_%7C_large_intestine(21)_%7C_lung(136)_%7C_oesophagus(2)_%7C_ovary(58)_%7C_pancreas(30)_%7C_prostate(58)_%7C_skin(32)_%7C_soft_tissue(24) X63692 NM_001379.3 NP_001370 HGNC:2976 DNA_%20_methyltransferase_%20_1 Approved gene_%20_with_%20_protein_%20_product protein-coding_%20_gene DNMT "DNA_%20_(cytosine-5-)-methyltransferase_%20_1" MCMT_%2C__%20_CXXC9 19p13.2 2017-03-24 2016-06-21 X63692 2.1.1.37 1786 1594447 NM_001379 136_%7C_1400 Zinc_%20_fingers_%20_CXXC-type_%7C_Seven-beta-strand_%20_methyltransferase_%20_motif_%20_containing CCDS12228_%2C__%20_CCDS45958 1786 126375 NM_001130823 P26358 ENSG00000130816 uc002mng.4 DNMT1_HUMAN Azacitidine(DB00928)_%7C_Decitabine(DB01262)_%7C_Flucytosine(DB01099)_%7C_Procainamide(DB01035) A0AV63_%7C_B7ZLW6_%7C_Q9UHG5_%7C_Q9ULA2_%7C_Q9UMZ6 P26358 cellular_%20_response_%20_to_%20_amino_%20_acid_%20_stimulus_%20_(GO:0071230)_%7C_chromatin_%20_modification_%20_(GO:0016568)_%7C_DNA_%20_methylation_%20_(GO:0006306)_%7C_gene_%20_silencing_%20_(GO:0016458)_%7C_maintenance_%20_of_%20_DNA_%20_methylation_%20_(GO:0010216)_%7C_negative_%20_regulation_%20_of_%20_histone_%20_H3-K9_%20_methylation_%20_(GO:0051573)_%7C_negative_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0000122)_%7C_positive_%20_regulation_%20_of_%20_gene_%20_expression_%20_(GO:0010628)_%7C_positive_%20_regulation_%20_of_%20_histone_%20_H3-K4_%20_methylation_%20_(GO:0051571)_%7C_regulation_%20_of_%20_cell_%20_proliferation_%20_(GO:0042127)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351) nucleus_%20_(GO:0005634)_%7C_pericentric_%20_heterochromatin_%20_(GO:0005721)_%7C_replication_%20_fork_%20_(GO:0005657) chromatin_%20_binding_%20_(GO:0003682)_%7C_DNA_%20_(cytosine-5-)-methyltransferase_%20_activity_%20_(GO:0003886)_%7C_DNA_%20_binding_%20_(GO:0003677)_%7C_DNA-methyltransferase_%20_activity_%20_(GO:0009008)_%7C_methyl-CpG_%20_binding_%20_(GO:0008327)_%7C_RNA_%20_binding_%20_(GO:0003723)_%7C_zinc_%20_ion_%20_binding_%20_(GO:0008270) false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false ] [RPS16 hg38 chr19 39433312 39433312 SILENT SNP G G A g.chr19:39433312G>A ENST00000251453.8 - 5 456 c.402C>T c.(400-402)ggC>ggT p.G134G 0.48129675810473815 GGGCACCAGGGCCTCCAAACT RPS16_ENST00000601655.5_SILENT_p.G117G/RPS16_ENST00000339471.8_THREE_PRIME_UTR/RPS16_ENST00000599539.5_THREE_PRIME_UTR 90 biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22) M60854 NM_001020.5 NP_001011 HGNC:10396 ribosomal_%20_protein_%20_S16 Approved gene_%20_with_%20_protein_%20_product protein-coding_%20_gene S16 "40S_%20_ribosomal_%20_protein_%20_S16" 19q13.1 2014-11-19 M60854 6217 2016298_%2C__%20_9582194 NM_001020 728 S_%20_ribosomal_%20_proteins CCDS12535_%2C__%20_CCDS82349 6217 603675 NM_001020 P62249 ENSG00000105193 uc002olk.4 RS16_HUMAN B2RDD5_%7C_P17008 P62249 cellular_%20_protein_%20_metabolic_%20_process_%20_(GO:0044267)_%7C_gene_%20_expression_%20_(GO:0010467)_%7C_mRNA_%20_metabolic_%20_process_%20_(GO:0016071)_%7C_nuclear-transcribed_%20_mRNA_%20_catabolic_%20_process_%2C__%20_nonsense-mediated_%20_decay_%20_(GO:0000184)_%7C_ribosomal_%20_small_%20_subunit_%20_biogenesis_%20_(GO:0042274)_%7C_RNA_%20_metabolic_%20_process_%20_(GO:0016070)_%7C_rRNA_%20_processing_%20_(GO:0006364)_%7C_SRP-dependent_%20_cotranslational_%20_protein_%20_targeting_%20_to_%20_membrane_%20_(GO:0006614)_%7C_translation_%20_(GO:0006412)_%7C_translational_%20_elongation_%20_(GO:0006414)_%7C_translational_%20_initiation_%20_(GO:0006413)_%7C_translational_%20_termination_%20_(GO:0006415)_%7C_viral_%20_life_%20_cycle_%20_(GO:0019058)_%7C_viral_%20_process_%20_(GO:0016032)_%7C_viral_%20_transcription_%20_(GO:0019083) cytosol_%20_(GO:0005829)_%7C_cytosolic_%20_small_%20_ribosomal_%20_subunit_%20_(GO:0022627)_%7C_extracellular_%20_vesicular_%20_exosome_%20_(GO:0070062)_%7C_focal_%20_adhesion_%20_(GO:0005925)_%7C_membrane_%20_(GO:0016020)_%7C_small_%20_ribosomal_%20_subunit_%20_(GO:0015935) poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_RNA_%20_binding_%20_(GO:0003723)_%7C_structural_%20_constituent_%20_of_%20_ribosome_%20_(GO:0003735) true false 0.7592_%2C_0.2408 false false 1 false true true RPS16:6217 true false false true true false false false false false false false false false false false false false false true 17627 39433312 false true 0 true 0 true 0.75436416921508664_%2C_0.24563583078491335 false true false SNV true 0x05030080030517013e000100 1 false 63 rs17627 ] [MT-CYB hg38 chrM 15326 15326 MISSENSE SNP A A G g.chrM:15326A>G ENST00000361789.2 + 1 580 c.580A>G c.(580-582)Aca>Gca p.T194A 0.4713216957605985 AGCCCTAGCAACACTCCACCT MT-ND6_ENST00000361681.2_FIVE_PRIME_FLANK/MT-TE_ENST00000387459.1_FIVE_PRIME_FLANK/MT-TT_ENST00000387460.2_FIVE_PRIME_FLANK 150284 MedGen:C0346153_%2C_OMIM:114480_%2C_Orphanet:ORPHA227535_%2C_SNOMED_CT:254843006 Familial_cancer_of_breast NC_012920.1:m.15326A>G no_assertion_criteria_provided Likely_pathogenic single_nucleotide_variant SO:0001483 MT-CYB:4519 2853508 140592 V00662 HGNC:7427 mitochondrially_%20_encoded_%20_cytochrome_%20_b Approved gene_%20_with_%20_protein_%20_product protein-coding_%20_gene MTCYB "cytochrome_%20_b" COB_%2C__%20_CYTB_%2C__%20_UQCR3 mitochondria 2012-11-16 2005-02-16 2005-02-15 4519 ENSG00000198727 YP_003024038 642 Mitochondrial_%20_complex_%20_III:_%20_ubiquinol-cytochrome_%20_c_%20_reductase_%20_complex_%20_subunits 4519 516020 P00156 ENSG00000198727 uc033dmn.2 CYB_HUMAN Q34786_%7C_Q8HBR6_%7C_Q8HNQ0_%7C_Q8HNQ1_%7C_Q8HNQ9_%7C_Q8HNR4_%7C_Q8HNR7_%7C_Q8W7V8_%7C_Q8WCV9_%7C_Q8WCY2_%7C_Q8WCY7_%7C_Q8WCY8_%7C_Q9B1A6_%7C_Q9B1B6_%7C_Q9B1B8_%7C_Q9B1D4_%7C_Q9B1X6_%7C_Q9B2V0_%7C_Q9B2V8_%7C_Q9B2W0_%7C_Q9B2W3_%7C_Q9B2W8_%7C_Q9B2X1_%7C_Q9B2X7_%7C_Q9B2X9_%7C_Q9B2Y3_%7C_Q9B2Z0_%7C_Q9B2Z4_%7C_Q9T6H6_%7C_Q9T9Y0_%7C_Q9TEH4 P00156 cellular_%20_metabolic_%20_process_%20_(GO:0044237)_%7C_hydrogen_%20_ion_%20_transmembrane_%20_transport_%20_(GO:1902600)_%7C_mitochondrial_%20_electron_%20_transport_%2C__%20_ubiquinol_%20_to_%20_cytochrome_%20_c_%20_(GO:0006122)_%7C_respiratory_%20_electron_%20_transport_%20_chain_%20_(GO:0022904)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281) mitochondrial_%20_inner_%20_membrane_%20_(GO:0005743)_%7C_mitochondrial_%20_respiratory_%20_chain_%20_complex_%20_III_%20_(GO:0005750)_%7C_mitochondrion_%20_(GO:0005739) electron_%20_carrier_%20_activity_%20_(GO:0009055)_%7C_metal_%20_ion_%20_binding_%20_(GO:0046872)_%7C_ubiquinol-cytochrome-c_%20_reductase_%20_activity_%20_(GO:0008121) true false false false false true false CYTB:4519 true true false false false true false false false false false true false true false true false false false true 2853508 15326 false false 1 false 0 false false false false SNV true 0x050060000a05050502110100 1 false 100 rs2853508 ]