FUNCOTATION [H6PD hg38 chr1 9267605 9267605 THREE_PRIME_UTR SNP T T C g.chr1:9267605T>C ENST00000602477.1 + 5 0.5361596009975063 AGAGTGGGTGTGGGAGTGTGG H6PD_ENST00000377403.7_THREE_PRIME_UTR 93 biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(2)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22) Z98044 NM_001282587.1 NP_001269516 HGNC:4795 hexose-6-phosphate_%20_dehydrogenase/glucose_%20_1-dehydrogenase Approved gene_%20_with_%20_protein_%20_product protein-coding_%20_gene GDH "glucose_%20_dehyrogenase"_%2C__%20_"hexose-6-phosphate_%20_dehydrogenase_%20_(glucose_%20_1-dehydrogenase)" "GDH/6PGL_%20_endoplasmic_%20_bifunctional_%20_protein" 1p36.22 2016-10-05 2016-04-05 AJ012590 1.1.1.47 9563 ENSG00000049239 10349511 NM_004285 CCDS101_%2C__%20_CCDS72697 OTTHUMG00000001768 9563 138090 NM_001282587 O95479 ENSG00000049239 uc001apt.4 hg38 OREG0013078 Outcome_%3D_POSITIVE_%20_OUTCOME_%7C_Type_%3D_REGULATORY_%20_REGION_%7C_Regulatory_Element_Symbol_%3D_CTCF_%7C_Regulatory_Element_ID_%3D_10664_%7C_Regulatory_Element_Source_%3D_NCBI_%7C_Dataset_%3D_CTCF_%20_ChIP-chip_%20_sites_%20_(Ren_%20_lab) G6PE_HUMAN Q4TT33_%7C_Q66I35_%7C_Q68DT3 O95479 pentose-phosphate_%20_shunt_%20_(GO:0006098)_%7C_response_%20_to_%20_alcohol_%20_(GO:0097305) endoplasmic_%20_reticulum_%20_(GO:0005783)_%7C_mitochondrion_%20_(GO:0005739) 6-phosphogluconolactonase_%20_activity_%20_(GO:0017057)_%7C_carbohydrate_%20_binding_%20_(GO:0030246)_%7C_glucose_%20_1-dehydrogenase_%20_[NAD(P)]_%20_activity_%20_(GO:0047936)_%7C_glucose-6-phosphate_%20_dehydrogenase_%20_activity_%20_(GO:0004345)_%7C_NADP_%20_binding_%20_(GO:0050661) 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 ] [CCT3 hg38 chr1 156310954 156310954 MISSENSE SNP A A T g.chr1:156310954A>T ENST00000295688.8 - 12 1505 c.1397T>A c.(1396-1398)cTt>cAt p.L466H 0.5037406483790524 ACTCACCCGAAGGGAGGTAAG CCT3_ENST00000472765.6_MISSENSE_p.L421H/CCT3_ENST00000368259.6_MISSENSE_p.L428H 91 biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22) X74801 NM_005998.4 NP_005989 HGNC:1616 chaperonin_%20_containing_%20_TCP1_%20_subunit_%20_3 Approved gene_%20_with_%20_protein_%20_product protein-coding_%20_gene TRIC5 "chaperonin_%20_containing_%20_TCP1_%2C__%20_subunit_%20_3_%20_(gamma)" Cctg 1q22 2016-10-05 2016-01-06 BC008019 7203 ENSG00000163468 8110840 NM_005998 587 Chaperonins CCDS1140_%2C__%20_CCDS30888 OTTHUMG00000024061 7203 600114 NM_001008800 P49368 ENSG00000163468 uc001fol.3 hg38 OREG1195032 Type_%3D_TRANSCRIPTION_%20_FACTOR_%20_BINDING_%20_SITE_%7C_Gene_Symbol_%3D_CCT3_%7C_Gene_ID_%3D_ENSG00000163468_%7C_Gene_Source_%3D_ENSEMBL_%7C_Regulatory_Element_Symbol_%3D_TFAP2C_%7C_Regulatory_Element_ID_%3D_ENST00000544508_%7C_Regulatory_Element_Source_%3D_ENSEMBL_%7C_PMID_%3D_18971253_%7C_Dataset_%3D_PAZAR TCPG_HUMAN A6NE14_%7C_Q5SZY1_%7C_Q9BR64 P49368 'de_%20_novo'_%20_posttranslational_%20_protein_%20_folding_%20_(GO:0051084)_%7C_binding_%20_of_%20_sperm_%20_to_%20_zona_%20_pellucida_%20_(GO:0007339)_%7C_cellular_%20_protein_%20_metabolic_%20_process_%20_(GO:0044267)_%7C_protein_%20_folding_%20_(GO:0006457) cell_%20_body_%20_(GO:0044297)_%7C_chaperonin-containing_%20_T-complex_%20_(GO:0005832)_%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_microtubule_%20_(GO:0005874)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_zona_%20_pellucida_%20_receptor_%20_complex_%20_(GO:0002199) ATP_%20_binding_%20_(GO:0005524)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_unfolded_%20_protein_%20_binding_%20_(GO:0051082) 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 ] [DENND1B hg38 chr1 197505955 197505955 THREE_PRIME_UTR SNP T T C g.chr1:197505955T>C ENST00000620048.6 - 23 0.2942643391521197 GATTTTCTTATTGCATATTTA 44 breast(11)_%7C_central_nervous_system(22)_%7C_large_intestine(11) CH471067 NM_001195215.1 NP_001182144 HGNC:28404 DENN_%20_domain_%20_containing_%20_1B Approved gene_%20_with_%20_protein_%20_product protein-coding_%20_gene FAM31B_%2C__%20_C1orf218 "family_%20_with_%20_sequence_%20_similarity_%20_31_%2C__%20_member_%20_B"_%2C__%20_"chromosome_%20_1_%20_open_%20_reading_%20_frame_%20_218"_%2C__%20_"DENN/MADD_%20_domain_%20_containing_%20_1B" MGC27044_%2C__%20_FLJ20054 "connecdenn_%20_2" 1q31.3 2016-02-12 2005-08-17 2016-02-12 BC016588 163486 ENSG00000213047 12477932 NM_144977 504 DENN/MADD_%20_domain_%20_containing CCDS41452_%2C__%20_CCDS72996_%2C__%20_CCDS72997 OTTHUMG00000035653 163486 613292 NM_001195215 Q6P3S1 ENSG00000213047 uc001guf.4 DEN1B_HUMAN B5MD89_%7C_D3PFD5_%7C_Q5T3B8_%7C_Q5T3B9_%7C_Q5T3C1_%7C_Q5TAI8_%7C_Q6B0I8_%7C_Q8NDT1_%7C_Q8TBE6_%7C_Q9H774_%7C_Q9NXU2 Q6P3S1 positive_%20_regulation_%20_of_%20_Rab_%20_GTPase_%20_activity_%20_(GO:0032851)_%7C_protein_%20_transport_%20_(GO:0015031) cytoplasmic_%20_vesicle_%20_(GO:0031410) Rab_%20_guanyl-nucleotide_%20_exchange_%20_factor_%20_activity_%20_(GO:0017112) true false 0.05671_%2C_0.9433 false false 1 false true false DENND1B:163486 true true false true true false false false false false false false false false false false false false false false 6428408 197505955 false false 0 true 0 false 0.05182849133537206_%2C_0.94817150866462793 false true false SNV true 0x05010080000515053e000100 1 false 116 rs6428408 ] [TGOLN2 hg38 chr2 85322404 85322404 THREE_PRIME_UTR SNP T T C g.chr2:85322404T>C ENST00000409015.5 - 4 0.5411471321695761 CCTTTGGTCATAGCCGTGTTT TGOLN2_ENST00000409232.7_THREE_PRIME_UTR/TGOLN2_ENST00000377386.8_THREE_PRIME_UTR/TGOLN2_ENST00000398263.6_THREE_PRIME_UTR/TGOLN2_ENST00000282120.6_THREE_PRIME_UTR 22 breast(11)_%7C_large_intestine(11) AC093162 HGNC:15450 trans-golgi_%20_network_%20_protein_%20_2 Approved gene_%20_with_%20_protein_%20_product protein-coding_%20_gene TGN51_%2C__%20_TGN46_%2C__%20_TGN48_%2C__%20_TGN38_%2C__%20_TTGN2 "trans-Golgi_%20_network_%20_protein_%20_(46_%2C__%20_48_%2C__%20_51kD_%20_isoforms)" 2p11.2 2014-11-19 AF027515 10618 ENSG00000152291 9422759_%2C__%20_21994457 NM_006464 CCDS46351_%2C__%20_CCDS56126_%2C__%20_CCDS56127 OTTHUMG00000153017 10618 603062 NM_001206840 O43493 ENSG00000152291 uc002soz.4 TGON2_HUMAN B2R686_%7C_B8ZZ88_%7C_D6W5K3_%7C_F8WBK2_%7C_O15282_%7C_O43492_%7C_O43499_%7C_O43500_%7C_O43501_%7C_Q53G68_%7C_Q53GV2_%7C_Q6MZV1_%7C_Q6ZTM7_%7C_Q8N6T8_%7C_Q92760_%7C_Q96QL2 O43493 Golgi_%20_apparatus_%20_(GO:0005794)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_nucleus_%20_(GO:0005634)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_trans-Golgi_%20_network_%20_(GO:0005802)_%7C_transport_%20_vesicle_%20_(GO:0030133) true false 0.3532_%2C_0.6468 false false 1 false true true TGOLN2:10618 true true false true true false false false false false false false false false false false false false false false 3184781 85322404 true false 0 true 0 false 0.43740443425076452_%2C_0.56259556574923547 false true false SNV true 0x05010080000517053e000100 1 false 105 rs3184781 ] [TGOLN2 hg38 chr2 85322424 85322424 THREE_PRIME_UTR SNP C C T g.chr2:85322424C>T ENST00000409015.5 - 4 0.5236907730673317 TCCATATACCCCTCCACTCAC TGOLN2_ENST00000409232.7_THREE_PRIME_UTR/TGOLN2_ENST00000377386.8_THREE_PRIME_UTR/TGOLN2_ENST00000398263.6_THREE_PRIME_UTR/TGOLN2_ENST00000282120.6_THREE_PRIME_UTR 22 breast(11)_%7C_large_intestine(11) AC093162 HGNC:15450 trans-golgi_%20_network_%20_protein_%20_2 Approved gene_%20_with_%20_protein_%20_product protein-coding_%20_gene TGN51_%2C__%20_TGN46_%2C__%20_TGN48_%2C__%20_TGN38_%2C__%20_TTGN2 "trans-Golgi_%20_network_%20_protein_%20_(46_%2C__%20_48_%2C__%20_51kD_%20_isoforms)" 2p11.2 2014-11-19 AF027515 10618 ENSG00000152291 9422759_%2C__%20_21994457 NM_006464 CCDS46351_%2C__%20_CCDS56126_%2C__%20_CCDS56127 OTTHUMG00000153017 10618 603062 NM_001206840 O43493 ENSG00000152291 uc002soz.4 TGON2_HUMAN B2R686_%7C_B8ZZ88_%7C_D6W5K3_%7C_F8WBK2_%7C_O15282_%7C_O43492_%7C_O43499_%7C_O43500_%7C_O43501_%7C_Q53G68_%7C_Q53GV2_%7C_Q6MZV1_%7C_Q6ZTM7_%7C_Q8N6T8_%7C_Q92760_%7C_Q96QL2 O43493 Golgi_%20_apparatus_%20_(GO:0005794)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_nucleus_%20_(GO:0005634)_%7C_plasma_%20_membrane_%20_(GO:0005886)_%7C_trans-Golgi_%20_network_%20_(GO:0005802)_%7C_transport_%20_vesicle_%20_(GO:0030133) true false 0.3532_%2C_0.6468 false false 1 false true true TGOLN2:10618 true true false true true false false false false false false false false false false false false false false false 3184780 85322424 true false 0 true 0 false 0.43746018093781855_%2C_0.56253981906218144 false true false SNV true 0x05010080000517053e000100 1 false 105 rs3184780 ] [RALBP1P2 hg38 chr2 100425765 100425765 RNA SNP T T G g.chr2:100425765T>G ENST00000453252.1 + c.e1-342T>G 0.4538653366583541 ATCAGCAATCTAGTCCTGTAT 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 ] [RAD23BP1 hg38 chr3 18538904 18538904 RNA SNP G G A g.chr3:18538904G>A ENST00000421404.1 + c.e1+231G>A 0.4763092269326683 TATGGTGACCGAACCCAAAGC SATB1-AS1_ENST00000629477.2_RNA/SATB1-AS1_ENST00000630271.2_RNA/SATB1-AS1_ENST00000629984.2_RNA/SATB1-AS1_ENST00000600177.5_RNA/SATB1-AS1_ENST00000625533.2_RNA/SATB1-AS1_ENST00000626982.2_RNA/SATB1-AS1_ENST00000629405.2_RNA/SATB1-AS1_ENST00000596152.3_RNA HGNC:44509 RAD23_%20_homolog_%20_B_%20_pseudogene_%20_1 Approved pseudogene pseudogene "RAD23_%20_homolog_%20_B_%20_(S._%20_cerevisiae)_%20_pseudogene_%20_1"_%2C__%20_"RAD23_%20_homolog_%20_B_%2C__%20_nucleotide_%20_excision_%20_repair_%20_protein_%20_pseudogene_%20_1" 3p24.3 2017-05-12 2017-05-12 131185 ENSG00000236570 OTTHUMG00000155345 131185 NG_022240 ENSG00000236570 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 552848449 18538904 false false 0 false 1 false 0.99978497706422018_%2C_0.00021502293577981 false false false SNV false 0x050000000005000026000140 1 false 142 rs552848449 ] [RPL37 hg38 chr5 40830825 40830825 THREE_PRIME_UTR SNP C C T g.chr5:40830825C>T ENST00000274242.10 - 4 0.5062344139650873 GTCAGGGTACCTTCACTAGAC Colon(188_%3B_1411_%20_2035_%20_4978_%20_19588_%20_31462) 90 biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22) S79979 NM_000997.4 NP_000988 HGNC:10347 ribosomal_%20_protein_%20_L37 Approved gene_%20_with_%20_protein_%20_product protein-coding_%20_gene L37 "60S_%20_ribosomal_%20_protein_%20_L37a" 5p13.1 2014-11-19 L11567 6167 ENSG00000145592 7545944_%2C__%20_9582194 NM_000997 729 L_%20_ribosomal_%20_proteins CCDS3934 OTTHUMG00000094774 6167 604181 NM_000997 P61927 ENSG00000145592 uc021xxr.2 RL37_HUMAN B2R4H2_%7C_P02403_%7C_Q6IBB4_%7C_Q99883 P61927 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) metal_%20_ion_%20_binding_%20_(GO:0046872)_%7C_RNA_%20_binding_%20_(GO:0003723)_%7C_rRNA_%20_binding_%20_(GO:0019843)_%7C_structural_%20_constituent_%20_of_%20_ribosome_%20_(GO:0003735) true false 0.04992_%2C_0.9501 false false 1 false true false LOC100506548:100506548 true true false true true false false false false false false false false false false false false false true false 1631660 40830825 true false 0 true 0 false 0.01666825942915392_%2C_0.98333174057084607 false false false SNV true 0x05010002000515053e000100 1 false 120 rs1631660 ] [SPARC hg38 chr5 151662989 151662989 THREE_PRIME_UTR SNP C C G g.chr5:151662989C>G ENST00000231061.9 - 10 0.5062344139650873 ATTTTCATAACACAGCCCCAG 247 biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(126)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_skin(31) Y00755 NM_003118.3 NP_003109 HGNC:11219 secreted_%20_protein_%20_acidic_%20_and_%20_cysteine_%20_rich Approved gene_%20_with_%20_protein_%20_product protein-coding_%20_gene ON "osteonectin" "cysteine-rich_%20_protein"_%2C__%20_"secreted_%20_protein_%20_acidic_%20_and_%20_rich_%20_in_%20_cysteine" 5q33.1 2016-10-05 2016-01-28 6678 ENSG00000113140 2838412_%2C__%20_3410046 NM_003118 1278 SPARC_%20_family CCDS4318 OTTHUMG00000130122 6678 182120 NM_001309443 P09486 ENSG00000113140 uc003lui.5 SPRC_HUMAN D3DQH9_%7C_Q6IBK4 P09486 blood_%20_coagulation_%20_(GO:0007596)_%7C_bone_%20_development_%20_(GO:0060348)_%7C_cellular_%20_response_%20_to_%20_growth_%20_factor_%20_stimulus_%20_(GO:0071363)_%7C_extracellular_%20_matrix_%20_organization_%20_(GO:0030198)_%7C_heart_%20_development_%20_(GO:0007507)_%7C_inner_%20_ear_%20_development_%20_(GO:0048839)_%7C_lung_%20_development_%20_(GO:0030324)_%7C_negative_%20_regulation_%20_of_%20_angiogenesis_%20_(GO:0016525)_%7C_negative_%20_regulation_%20_of_%20_endothelial_%20_cell_%20_proliferation_%20_(GO:0001937)_%7C_ossification_%20_(GO:0001503)_%7C_platelet_%20_activation_%20_(GO:0030168)_%7C_platelet_%20_degranulation_%20_(GO:0002576)_%7C_positive_%20_regulation_%20_of_%20_endothelial_%20_cell_%20_migration_%20_(GO:0010595)_%7C_regulation_%20_of_%20_cell_%20_morphogenesis_%20_(GO:0022604)_%7C_response_%20_to_%20_cadmium_%20_ion_%20_(GO:0046686)_%7C_response_%20_to_%20_calcium_%20_ion_%20_(GO:0051592)_%7C_response_%20_to_%20_cAMP_%20_(GO:0051591)_%7C_response_%20_to_%20_cytokine_%20_(GO:0034097)_%7C_response_%20_to_%20_ethanol_%20_(GO:0045471)_%7C_response_%20_to_%20_glucocorticoid_%20_(GO:0051384)_%7C_response_%20_to_%20_gravity_%20_(GO:0009629)_%7C_response_%20_to_%20_L-ascorbic_%20_acid_%20_(GO:0033591)_%7C_response_%20_to_%20_lead_%20_ion_%20_(GO:0010288)_%7C_response_%20_to_%20_lipopolysaccharide_%20_(GO:0032496)_%7C_response_%20_to_%20_peptide_%20_hormone_%20_(GO:0043434)_%7C_signal_%20_transduction_%20_(GO:0007165) basement_%20_membrane_%20_(GO:0005604)_%7C_cell_%20_surface_%20_(GO:0009986)_%7C_cytoplasm_%20_(GO:0005737)_%7C_endocytic_%20_vesicle_%20_lumen_%20_(GO:0071682)_%7C_extracellular_%20_region_%20_(GO:0005576)_%7C_extracellular_%20_space_%20_(GO:0005615)_%7C_nuclear_%20_matrix_%20_(GO:0016363)_%7C_platelet_%20_alpha_%20_granule_%20_(GO:0031091)_%7C_platelet_%20_alpha_%20_granule_%20_lumen_%20_(GO:0031093)_%7C_platelet_%20_alpha_%20_granule_%20_membrane_%20_(GO:0031092) calcium_%20_ion_%20_binding_%20_(GO:0005509)_%7C_collagen_%20_binding_%20_(GO:0005518)_%7C_extracellular_%20_matrix_%20_binding_%20_(GO:0050840) true false 0.6128_%2C_0.3872 false false 1 false true true SPARC:6678 true true false true true false false false false false false false false false false true true false false false 1054204 151662989 true false 0 true 0 false 0.56130542813455657_%2C_0.43869457186544342 false true false SNV true 0x05012880000517053e000100 1 false 86 rs1054204 ] [SPARC hg38 chr5 151663542 151663542 THREE_PRIME_UTR SNP G G C g.chr5:151663542G>C ENST00000231061.9 - 10 0.4463840399002494 GGGTTAAAGAGAGAATCCGGT 247 biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(126)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_skin(31) Y00755 NM_003118.3 NP_003109 HGNC:11219 secreted_%20_protein_%20_acidic_%20_and_%20_cysteine_%20_rich Approved gene_%20_with_%20_protein_%20_product protein-coding_%20_gene ON "osteonectin" "cysteine-rich_%20_protein"_%2C__%20_"secreted_%20_protein_%20_acidic_%20_and_%20_rich_%20_in_%20_cysteine" 5q33.1 2016-10-05 2016-01-28 6678 ENSG00000113140 2838412_%2C__%20_3410046 NM_003118 1278 SPARC_%20_family CCDS4318 OTTHUMG00000130122 6678 182120 NM_001309443 P09486 ENSG00000113140 uc003lui.5 SPRC_HUMAN D3DQH9_%7C_Q6IBK4 P09486 blood_%20_coagulation_%20_(GO:0007596)_%7C_bone_%20_development_%20_(GO:0060348)_%7C_cellular_%20_response_%20_to_%20_growth_%20_factor_%20_stimulus_%20_(GO:0071363)_%7C_extracellular_%20_matrix_%20_organization_%20_(GO:0030198)_%7C_heart_%20_development_%20_(GO:0007507)_%7C_inner_%20_ear_%20_development_%20_(GO:0048839)_%7C_lung_%20_development_%20_(GO:0030324)_%7C_negative_%20_regulation_%20_of_%20_angiogenesis_%20_(GO:0016525)_%7C_negative_%20_regulation_%20_of_%20_endothelial_%20_cell_%20_proliferation_%20_(GO:0001937)_%7C_ossification_%20_(GO:0001503)_%7C_platelet_%20_activation_%20_(GO:0030168)_%7C_platelet_%20_degranulation_%20_(GO:0002576)_%7C_positive_%20_regulation_%20_of_%20_endothelial_%20_cell_%20_migration_%20_(GO:0010595)_%7C_regulation_%20_of_%20_cell_%20_morphogenesis_%20_(GO:0022604)_%7C_response_%20_to_%20_cadmium_%20_ion_%20_(GO:0046686)_%7C_response_%20_to_%20_calcium_%20_ion_%20_(GO:0051592)_%7C_response_%20_to_%20_cAMP_%20_(GO:0051591)_%7C_response_%20_to_%20_cytokine_%20_(GO:0034097)_%7C_response_%20_to_%20_ethanol_%20_(GO:0045471)_%7C_response_%20_to_%20_glucocorticoid_%20_(GO:0051384)_%7C_response_%20_to_%20_gravity_%20_(GO:0009629)_%7C_response_%20_to_%20_L-ascorbic_%20_acid_%20_(GO:0033591)_%7C_response_%20_to_%20_lead_%20_ion_%20_(GO:0010288)_%7C_response_%20_to_%20_lipopolysaccharide_%20_(GO:0032496)_%7C_response_%20_to_%20_peptide_%20_hormone_%20_(GO:0043434)_%7C_signal_%20_transduction_%20_(GO:0007165) basement_%20_membrane_%20_(GO:0005604)_%7C_cell_%20_surface_%20_(GO:0009986)_%7C_cytoplasm_%20_(GO:0005737)_%7C_endocytic_%20_vesicle_%20_lumen_%20_(GO:0071682)_%7C_extracellular_%20_region_%20_(GO:0005576)_%7C_extracellular_%20_space_%20_(GO:0005615)_%7C_nuclear_%20_matrix_%20_(GO:0016363)_%7C_platelet_%20_alpha_%20_granule_%20_(GO:0031091)_%7C_platelet_%20_alpha_%20_granule_%20_lumen_%20_(GO:0031093)_%7C_platelet_%20_alpha_%20_granule_%20_membrane_%20_(GO:0031092) calcium_%20_ion_%20_binding_%20_(GO:0005509)_%7C_collagen_%20_binding_%20_(GO:0005518)_%7C_extracellular_%20_matrix_%20_binding_%20_(GO:0050840) true false 0.772_%2C_0.228_%2C_. false false 1 false true false SPARC:6678 true true false true true false false false false false false false false false false true true false false true 1053411 151663542 true false 0 true 0 true 0.82452535677879714_%2C_0.17547464322120285_%2C_. false true false SNV true 0x050128800305150536000100 1 false 86 rs1053411 ] [ANKS1A hg38 chr6 35090754 35090754 THREE_PRIME_UTR SNP C C T g.chr6:35090754C>T ENST00000360359.5 + 24 0.5261845386533666 GCAGGTCACACCAGGGGCAGA 91 biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(1)_%7C_pancreas(22) D86982 NM_015245.2 NP_056060 HGNC:20961 ankyrin_%20_repeat_%20_and_%20_sterile_%20_alpha_%20_motif_%20_domain_%20_containing_%20_1A Approved gene_%20_with_%20_protein_%20_product protein-coding_%20_gene ANKS1 "ankyrin_%20_repeat_%20_and_%20_SAM_%20_domain_%20_containing_%20_1"_%2C__%20_"ankyrin_%20_repeat_%20_and_%20_sterile_%20_alpha_%20_motif_%20_domain_%20_containing_%20_1" KIAA0229 6p21.31 2016-10-18 2006-02-17 2006-02-17 D86982 23294 ENSG00000064999 9039502 NM_015245 403_%7C_760 Ankyrin_%20_repeat_%20_domain_%20_containing_%7C_Sterile_%20_alpha_%20_motif_%20_domain_%20_containing CCDS4798 OTTHUMG00000014559 23294 608994 NM_015245 Q92625 ENSG00000064999 uc003ojx.5 ANS1A_HUMAN A2RUC1_%7C_B4DQW8_%7C_Q5JYI9_%7C_Q5SYR2_%7C_Q86WQ7 Q92625 ephrin_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0048013)_%7C_neuron_%20_remodeling_%20_(GO:0016322)_%7C_substrate-dependent_%20_cell_%20_migration_%20_(GO:0006929) cytoplasm_%20_(GO:0005737)_%7C_neuron_%20_projection_%20_(GO:0043005)_%7C_nucleus_%20_(GO:0005634) true false 0.8644_%2C_0.1356 false false 1 false true false ANKS1A:23294 true true true true true false false false false false false false false false false false false false false false 11552398 35090754 true false 0 true 0 false 0.84394909531090723_%2C_0.15605090468909276 false true false SNV true 0x05010088000515053e000100 1 false 120 rs11552398 ] [MRPL18 hg38 chr6 159798305 159798305 THREE_PRIME_UTR SNP G G A g.chr6:159798305G>A ENST00000367034.5 + 4 0.3541147132169576 CAAGAACTACGTTCTGCCCCT PNLDC1_ENST00000392167.4_FIVE_PRIME_FLANK/PNLDC1_ENST00000610273.5_FIVE_PRIME_FLANK 90 biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22) CR533491 NM_014161.4 NP_054880 HGNC:14477 mitochondrial_%20_ribosomal_%20_protein_%20_L18 Approved gene_%20_with_%20_protein_%20_product protein-coding_%20_gene HSPC071 6q25.3 2014-11-19 AF161556 29074 ENSG00000112110 11042152_%2C__%20_11551941 646 Mitochondrial_%20_ribosomal_%20_proteins CCDS5270 OTTHUMG00000015942 29074 611831 NM_001318817 Q9H0U6 ENSG00000112110 uc003qsw.5 RM18_HUMAN Q5TAP9_%7C_Q9NZW8 Q9H0U6 rRNA_%20_import_%20_into_%20_mitochondrion_%20_(GO:0035928)_%7C_translation_%20_(GO:0006412) extracellular_%20_space_%20_(GO:0005615)_%7C_mitochondrial_%20_ribosome_%20_(GO:0005761)_%7C_mitochondrion_%20_(GO:0005739) 5S_%20_rRNA_%20_binding_%20_(GO:0008097)_%7C_structural_%20_constituent_%20_of_%20_ribosome_%20_(GO:0003735) true false 0.6048_%2C_0.3952 false false 1 false true true MRPL18:29074_%7C_PNLDC1:154197 true true false true true false false false false false false false false false false false false false true false 4739 159798305 false false 0 true 0 false 0.54388857033639143_%2C_0.45611142966360856 false true false SNV true 0x05010082000517053e000100 1 false 52 rs4739 ] [THBS2 hg38 chr6 169216002 169216002 THREE_PRIME_UTR SNP C C T g.chr6:169216002C>T ENST00000366787.7 - 23 0.36159600997506236 ATTCTAAATACTCACATCATC THBS2_ENST00000649844.1_THREE_PRIME_UTR/BX322234.1_ENST00000660724.1_RNA/BX322234.1_ENST00000670651.1_RNA Esophageal_%20_Squamous(91_%3B_219_%20_1934_%20_18562_%20_44706) 472 biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(68)_%7C_large_intestine(178)_%7C_lung(2)_%7C_ovary(66)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(79) M81339 NM_003247.3 NP_003238 HGNC:11786 thrombospondin_%20_2 Approved gene_%20_with_%20_protein_%20_product protein-coding_%20_gene TSP2 6q27 2015-09-08 7058 ENSG00000186340 18455130 NM_003247 CCDS34574 OTTHUMG00000045408 7058 188061 NM_003247 P35442 ENSG00000186340 uc003qwt.5 TSP2_HUMAN A6H8N1_%7C_A7E232_%7C_Q5RI52 P35442 cell_%20_adhesion_%20_(GO:0007155)_%7C_negative_%20_regulation_%20_of_%20_angiogenesis_%20_(GO:0016525)_%7C_positive_%20_regulation_%20_of_%20_synapse_%20_assembly_%20_(GO:0051965) basement_%20_membrane_%20_(GO:0005604)_%7C_extracellular_%20_region_%20_(GO:0005576)_%7C_platelet_%20_alpha_%20_granule_%20_(GO:0031091) calcium_%20_ion_%20_binding_%20_(GO:0005509)_%7C_heparin_%20_binding_%20_(GO:0008201) true false 0.02057_%2C_._%2C_0.9794 false false 1 false true false LOC101929523:101929523_%7C_THBS2:7058 true true true true true false false false false false false false false false false false false false false false 3252 169216002 true false 0 true 0 false false true false SNV true 0x05010088000515053e000100 1 false 36 rs3252 ] [TES hg38 chr7 116250377 116250377 MISSENSE SNP C C G g.chr7:116250377C>G ENST00000358204.9 + 4 752 c.583C>G c.(583-585)Ccc>Gcc p.P195A 0.48877805486284287 TGTCAAACTTCCCTGTGAGAT TES_ENST00000393481.6_MISSENSE_p.P186A/AC073130.2_ENST00000444244.1_RNA/AC002066.1_ENST00000446355.2_RNA 90 biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22) CH471070 NM_015641.3 NP_056456 HGNC:14620 testin_%20_LIM_%20_domain_%20_protein Approved gene_%20_with_%20_protein_%20_product protein-coding_%20_gene "testis_%20_derived_%20_transcript_%20_(3_%20_LIM_%20_domains)" DKFZP586B2022_%2C__%20_TESS-2_%2C__%20_TESTIN 7q31.2 2015-02-13 2015-02-13 AJ250865 26136 ENSG00000135269 10950921 NM_015641 1218 LIM_%20_domain_%20_containing CCDS5763_%2C__%20_CCDS5764 OTTHUMG00000023092 26136 606085 NM_015641 Q9UGI8 ENSG00000135269 uc003vho.3 TES_HUMAN A4D0U6_%7C_Q9GZQ1_%7C_Q9HAJ9 Q9UGI8 negative_%20_regulation_%20_of_%20_cell_%20_proliferation_%20_(GO:0008285) cytoplasm_%20_(GO:0005737)_%7C_focal_%20_adhesion_%20_(GO:0005925)_%7C_nucleus_%20_(GO:0005634)_%7C_protein_%20_complex_%20_(GO:0043234) poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%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 ] [PARP10 hg38 chr8 143983700 143983700 MISSENSE SNP A A G g.chr8:143983700A>G ENST00000524918.5 - 8 1949 c.1862T>C c.(1861-1863)gTg>gCg p.V621A 0.6583541147132169 CCCTGGGGTCACCTCCTCCTC PARP10_ENST00000313028.12_MISSENSE_p.V630A/PARP10_ENST00000525773.5_MISSENSE_p.V642A 680 biliary_tract(2)_%7C_breast(222)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_lung(135)_%7C_ovary(58)_%7C_pancreas(30)_%7C_prostate(58)_%7C_upper_aerodigestive_tract(120) AC206437 HGNC:25895 poly(ADP-ribose)_%20_polymerase_%20_family_%20_member_%20_10 Approved gene_%20_with_%20_protein_%20_product protein-coding_%20_gene FLJ14464 8q24.3 2016-11-01 2015-11-06 AK027370 84875 ENSG00000178685 15273990 NM_032789 684 Poly(ADP-ribose)_%20_polymerases CCDS34960_%2C__%20_CCDS83331 OTTHUMG00000165408 84875 609564 NM_001317895 Q53GL7 ENSG00000178685 uc003zal.5 PAR10_HUMAN Q8N2I0_%7C_Q8WV05_%7C_Q96CH7_%7C_Q96K72 Q53GL7 negative_%20_regulation_%20_of_%20_fibroblast_%20_proliferation_%20_(GO:0048147)_%7C_negative_%20_regulation_%20_of_%20_gene_%20_expression_%20_(GO:0010629)_%7C_negative_%20_regulation_%20_of_%20_NF-kappaB_%20_transcription_%20_factor_%20_activity_%20_(GO:0032088)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_import_%20_into_%20_nucleus_%2C__%20_translocation_%20_(GO:0033159)_%7C_negative_%20_regulation_%20_of_%20_protein_%20_K63-linked_%20_ubiquitination_%20_(GO:1900045)_%7C_negative_%20_regulation_%20_of_%20_viral_%20_genome_%20_replication_%20_(GO:0045071)_%7C_protein_%20_ADP-ribosylation_%20_(GO:0006471)_%7C_protein_%20_auto-ADP-ribosylation_%20_(GO:0070213)_%7C_protein_%20_poly-ADP-ribosylation_%20_(GO:0070212)_%7C_regulation_%20_of_%20_chromatin_%20_assembly_%20_(GO:0010847) cytoplasm_%20_(GO:0005737)_%7C_Golgi_%20_apparatus_%20_(GO:0005794)_%7C_nucleus_%20_(GO:0005634) K63-linked_%20_polyubiquitin_%20_binding_%20_(GO:0070530)_%7C_NAD+_%20_ADP-ribosyltransferase_%20_activity_%20_(GO:0003950) true false 0.4087_%2C_0.5913 false false 1 false true false PARP10:84875 true true false true true false false false false false false true false false false false false false false true 11544989 143983700 true false 0 true 0 false 0.36968017329255861_%2C_0.63031982670744138 false false false SNV true 0x050100000a0515053e000100 1 false 120 rs11544989 ] [RCL1 hg38 chr9 4860643 4860643 THREE_PRIME_UTR SNP G G C g.chr9:4860643G>C ENST00000381750.9 + 9 0.48129675810473815 TGGCTGTTTTGCAAACCTGTG RCL1_ENST00000442869.5_THREE_PRIME_UTR/RCL1_ENST00000448872.6_THREE_PRIME_UTR 90 biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22) EF553527 NM_005772.4 NP_005763 HGNC:17687 RNA_%20_terminal_%20_phosphate_%20_cyclase_%20_like_%20_1 Approved gene_%20_with_%20_protein_%20_product protein-coding_%20_gene "RNA_%20_terminal_%20_phosphate_%20_cyclase-like_%20_1" RPCL1_%2C__%20_RNAC 9p24.1 2016-10-05 2016-03-24 AJ276894 10171 ENSG00000120158 NM_005772 CCDS6456_%2C__%20_CCDS69565_%2C__%20_CCDS75810 OTTHUMG00000019474 10171 611405 NM_001286699 Q9Y2P8 ENSG00000120158 uc003zis.4 RCL1_HUMAN D3DRI2_%7C_Q5VYW9_%7C_Q5VZU1_%7C_Q9H9D0_%7C_Q9NY00_%7C_Q9P044 Q9Y2P8 ribosome_%20_biogenesis_%20_(GO:0042254)_%7C_RNA_%20_processing_%20_(GO:0006396) nucleolus_%20_(GO:0005730) catalytic_%20_activity_%20_(GO:0003824) true false 0.6384_%2C_0.3616_%2C_. false false 1 false true true RCL1:10171 true true false true true false false false false false false false false false false true true false false false 1053872 4860643 false false 0 true 0 false 0.68133600917431192_%2C_0.31857638888888888_%2C_0.00008760193679918 false true false SNV true 0x05012880000517053e000100 1 false 86 rs1053872 ] [NAMPTP1 hg38 chr10 36523122 36523122 RNA SNP T T C g.chr10:36523122T>C ENST00000440465.1 - c.e1-1112A>G 0.40399002493765584 GATCTCTTGTTAACTTCTGTA HGNC:17633 nicotinamide_%20_phosphoribosyltransferase_%20_pseudogene_%20_1 Approved pseudogene pseudogene PBEF2_%2C__%20_NAMPTL "pre-B-cell_%20_colony_%20_enhancing_%20_factor_%20_2"_%2C__%20_"nicotinamide_%20_phosphoribosyltransferase-like" bA92J19.4 10p11.21 2014-10-01 2014-10-01 2014-10-01 646309 ENSG00000229644 8289818 NG_005593 OTTHUMG00000017964 646309 NG_005593 ENSG00000229644 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 878858188 36523122 false false 0 false 0 false 0.99994425331294597_%2C_0.00005574668705402 false false false SNV false 0x050000000005000002000100 1 false 147 rs878858188 ] [PMEL hg38 chr12 55957042 55957042 MISSENSE SNP T T C g.chr12:55957042T>C ENST00000548747.5 - 6 1924 c.1261A>G c.(1261-1263)Aca>Gca p.T421A 0.5012468827930174 ACCCACTCTGTAGTTGTTACC PMEL_ENST00000552882.5_MISSENSE_p.T421A/PMEL_ENST00000548493.5_MISSENSE_p.T421A/PMEL_ENST00000449260.6_MISSENSE_p.T421A/PMEL_ENST00000550464.5_MISSENSE_p.T335A/PMEL_ENST00000550447.5_INTRON 158 biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(68)_%7C_large_intestine(11)_%7C_pancreas(22) U31808 HGNC:10880 premelanosome_%20_protein Approved gene_%20_with_%20_protein_%20_product protein-coding_%20_gene SIL_%2C__%20_SILV "silver_%20_(mouse_%20_homolog)_%20_like"_%2C__%20_"silver_%20_homolog_%20_(mouse)" D12S53E_%2C__%20_SI_%2C__%20_Pmel17_%2C__%20_gp100 12q13.2 2016-06-10 2010-12-17 2010-12-17 AK092881 6490 ENSG00000185664 8739560 NM_006928 CCDS8897_%2C__%20_CCDS55833_%2C__%20_CCDS55834 OTTHUMG00000170573 6490 155550 NM_001200053 P40967 ENSG00000185664 uc001sip.4 PMEL_HUMAN B3KS57_%7C_B7Z6D7_%7C_Q12763_%7C_Q14448_%7C_Q14817_%7C_Q16565 P40967 melanin_%20_biosynthetic_%20_process_%20_(GO:0042438)_%7C_melanosome_%20_organization_%20_(GO:0032438) endoplasmic_%20_reticulum_%20_membrane_%20_(GO:0005789)_%7C_extracellular_%20_region_%20_(GO:0005576)_%7C_Golgi_%20_apparatus_%20_(GO:0005794)_%7C_integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_melanosome_%20_(GO:0042470)_%7C_multivesicular_%20_body_%20_membrane_%20_(GO:0032585)_%7C_plasma_%20_membrane_%20_(GO:0005886) 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 ] [SPRY2 hg38 chr13 80340620 80340620 SPLICE_SITE INTRON SNP A A T g.chr13:80340620A>T ENST00000377104.4 - c.e1-2T>A c.e1+2 0.6034912718204489 AACGTGCCTCACCGTGATCGC SPRY2_ENST00000377102.5_FIVE_PRIME_FLANK 686 biliary_tract(2)_%7C_breast(185)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(8)_%7C_kidney(112)_%7C_large_intestine(11)_%7C_lung(135)_%7C_ovary(58)_%7C_pancreas(30)_%7C_prostate(58)_%7C_skin(43) BC015745 NM_005842.3 NP_005833 HGNC:11270 sprouty_%20_RTK_%20_signaling_%20_antagonist_%20_2 Approved gene_%20_with_%20_protein_%20_product protein-coding_%20_gene "sprouty_%20_(Drosophila)_%20_homolog_%20_2"_%2C__%20_"sprouty_%20_homolog_%20_2_%20_(Drosophila)" hSPRY2 13q31.1 2015-08-26 2015-06-26 AF039843 10253 ENSG00000136158 9458049 CCDS9463 OTTHUMG00000017140 10253 602466 NM_001318536 O43597 ENSG00000136158 uc001vlj.4 hg38 OREG1277373 Type_%3D_TRANSCRIPTION_%20_FACTOR_%20_BINDING_%20_SITE_%7C_Gene_Symbol_%3D_SPRY2_%7C_Gene_ID_%3D_ENSG00000136158_%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 SPY2_HUMAN B2R9J9_%7C_Q5T6Z7 O43597 bud_%20_elongation_%20_involved_%20_in_%20_lung_%20_branching_%20_(GO:0060449)_%7C_cell_%20_fate_%20_commitment_%20_(GO:0045165)_%7C_epidermal_%20_growth_%20_factor_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0007173)_%7C_establishment_%20_of_%20_mitotic_%20_spindle_%20_orientation_%20_(GO:0000132)_%7C_fibroblast_%20_growth_%20_factor_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0008543)_%7C_inner_%20_ear_%20_morphogenesis_%20_(GO:0042472)_%7C_lung_%20_growth_%20_(GO:0060437)_%7C_negative_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043066)_%7C_negative_%20_regulation_%20_of_%20_cell_%20_proliferation_%20_(GO:0008285)_%7C_negative_%20_regulation_%20_of_%20_epidermal_%20_growth_%20_factor_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0042059)_%7C_negative_%20_regulation_%20_of_%20_ERK1_%20_and_%20_ERK2_%20_cascade_%20_(GO:0070373)_%7C_negative_%20_regulation_%20_of_%20_fibroblast_%20_growth_%20_factor_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0040037)_%7C_negative_%20_regulation_%20_of_%20_MAP_%20_kinase_%20_activity_%20_(GO:0043407)_%7C_negative_%20_regulation_%20_of_%20_neurotrophin_%20_TRK_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0051387)_%7C_negative_%20_regulation_%20_of_%20_peptidyl-threonine_%20_phosphorylation_%20_(GO:0010801)_%7C_negative_%20_regulation_%20_of_%20_Ras_%20_GTPase_%20_activity_%20_(GO:0034261)_%7C_negative_%20_regulation_%20_of_%20_Ras_%20_protein_%20_signal_%20_transduction_%20_(GO:0046580)_%7C_positive_%20_regulation_%20_of_%20_ERK1_%20_and_%20_ERK2_%20_cascade_%20_(GO:0070374)_%7C_positive_%20_regulation_%20_of_%20_gene_%20_expression_%20_(GO:0010628)_%7C_positive_%20_regulation_%20_of_%20_peptidyl-serine_%20_phosphorylation_%20_(GO:0033138)_%7C_positive_%20_regulation_%20_of_%20_protein_%20_kinase_%20_B_%20_signaling_%20_(GO:0051897)_%7C_positive_%20_regulation_%20_of_%20_protein_%20_serine/threonine_%20_kinase_%20_activity_%20_(GO:0071902)_%7C_sensory_%20_perception_%20_of_%20_sound_%20_(GO:0007605) cell_%20_projection_%20_(GO:0042995)_%7C_cytosol_%20_(GO:0005829)_%7C_microtubule_%20_(GO:0005874)_%7C_plasma_%20_membrane_%20_(GO:0005886) protein_%20_kinase_%20_binding_%20_(GO:0019901)_%7C_protein_%20_serine/threonine_%20_kinase_%20_activator_%20_activity_%20_(GO:0043539)_%7C_protein_%20_serine/threonine_%20_kinase_%20_inhibitor_%20_activity_%20_(GO:0030291) 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 ] [SLIRP hg38 chr14 77708130 77708130 SILENT SNP A A C g.chr14:77708130A>C ENST00000557623.5 + 1 28 c.19A>C c.(19-21)Aga>Cga p.R7R 0.5610972568578554 CTCAGCAGCGAGAGGTGCTGC SLIRP_ENST00000557342.6_SILENT_p.R7R/SLIRP_ENST00000557431.5_SILENT_p.R7R/SLIRP_ENST00000238688.9_SILENT_p.R7R/SLIRP_ENST00000613856.4_SILENT_p.R7R/ALKBH1_ENST00000216489.8_FIVE_PRIME_FLANK 90 biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22) AC008372 HGNC:20495 SRA_%20_stem-loop_%20_interacting_%20_RNA_%20_binding_%20_protein Approved gene_%20_with_%20_protein_%20_product protein-coding_%20_gene C14orf156 "chromosome_%20_14_%20_open_%20_reading_%20_frame_%20_156" DC50 14q24.3 2016-11-16 2011-06-17 2011-06-17 AF253980 81892 ENSG00000119705 16762838 NM_031210 725 RNA_%20_binding_%20_motif_%20_containing CCDS9866_%2C__%20_CCDS58331_%2C__%20_CCDS73668 OTTHUMG00000171526 81892 610211 NM_001267863 Q9GZT3 ENSG00000119705 uc001xue.7 hg38 OREG1257943 Type_%3D_TRANSCRIPTION_%20_FACTOR_%20_BINDING_%20_SITE_%7C_Gene_Symbol_%3D_ALKBH1_%7C_Gene_ID_%3D_ENSG00000100601_%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 SLIRP_HUMAN J3KMY7 Q9GZT3 mitochondrion_%20_morphogenesis_%20_(GO:0070584)_%7C_negative_%20_regulation_%20_of_%20_mitochondrial_%20_RNA_%20_catabolic_%20_process_%20_(GO:0000961)_%7C_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0006355)_%7C_single_%20_fertilization_%20_(GO:0007338)_%7C_sperm_%20_motility_%20_(GO:0030317)_%7C_spermatid_%20_development_%20_(GO:0007286)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351) acrosomal_%20_vesicle_%20_(GO:0001669)_%7C_mitochondrion_%20_(GO:0005739)_%7C_nucleus_%20_(GO:0005634)_%7C_perinuclear_%20_region_%20_of_%20_cytoplasm_%20_(GO:0048471)_%7C_ribonucleoprotein_%20_complex_%20_(GO:0030529)_%7C_sperm_%20_flagellum_%20_(GO:0036126) nucleotide_%20_binding_%20_(GO:0000166)_%7C_poly(A)_%20_RNA_%20_binding_%20_(GO:0044822) true false 0.13_%2C_0.87_%2C_._%2C_. false false 1 false true false SLIRP:81892_%7C_ALKBH1:8846 true true false true true false false false false false false true true false false false false false true true 11159286 77708130 false false 0 true 0 true 0.06517584097859327_%2C_0.91569508154943934_%2C_0.01912907747196738_%2C_. false false false SNV true 0x050100020f0515053e000100 1 false 120 rs11159286 ] [ARNT2 hg38 chr15 80594143 80594143 THREE_PRIME_UTR SNP G G A g.chr15:80594143G>A ENST00000303329.9 + 19 0.5211970074812967 GGAATGCTGGGAAAATGGGCA ARNT2_ENST00000533983.5_THREE_PRIME_UTR/ARNT2_ENST00000622346.4_INTRON 174 biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(127)_%7C_large_intestine(11)_%7C_pancreas(22)_%7C_upper_aerodigestive_tract(1) KJ534772 NM_014862.3 NP_055677 HGNC:16876 aryl_%20_hydrocarbon_%20_receptor_%20_nuclear_%20_translocator_%20_2 Approved gene_%20_with_%20_protein_%20_product protein-coding_%20_gene KIAA0307_%2C__%20_bHLHe1 15q25.1 2015-11-24 2015-11-24 AB002305 9915 ENSG00000172379 11247670 420 Basic_%20_helix-loop-helix_%20_proteins CCDS32307 OTTHUMG00000165478 9915 606036 NM_014862 Q9HBZ2 ENSG00000172379 uc002bfr.4 ARNT2_HUMAN B4DIS7_%7C_O15024_%7C_Q8IYC2 Q9HBZ2 central_%20_nervous_%20_system_%20_development_%20_(GO:0007417)_%7C_in_%20_utero_%20_embryonic_%20_development_%20_(GO:0001701)_%7C_negative_%20_regulation_%20_of_%20_apoptotic_%20_process_%20_(GO:0043066)_%7C_positive_%20_regulation_%20_of_%20_cell_%20_proliferation_%20_(GO:0008284)_%7C_positive_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0045944)_%7C_positive_%20_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0045893)_%7C_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0006355)_%7C_response_%20_to_%20_estradiol_%20_(GO:0032355)_%7C_response_%20_to_%20_hypoxia_%20_(GO:0001666)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351) cytoplasm_%20_(GO:0005737)_%7C_nucleus_%20_(GO:0005634)_%7C_transcription_%20_factor_%20_complex_%20_(GO:0005667) aryl_%20_hydrocarbon_%20_receptor_%20_binding_%20_(GO:0017162)_%7C_DNA_%20_binding_%20_(GO:0003677)_%7C_protein_%20_heterodimerization_%20_activity_%20_(GO:0046982)_%7C_sequence-specific_%20_DNA_%20_binding_%20_transcription_%20_factor_%20_activity_%20_(GO:0003700)_%7C_signal_%20_transducer_%20_activity_%20_(GO:0004871) true false 0.8037_%2C_0.1963 false false 1 false true false ARNT2:9915 true true false true true false false false false false false false false false false false false false false false 7172733 80594143 false false 0 true 0 false 0.84839290265035677_%2C_0.15160709734964322 false true false SNV true 0x05010080000515053e000100 1 false 116 rs7172733 ] [SLC25A23 hg38 chr19 6452396 6452396 MISSENSE SNP C C G g.chr19:6452396C>G ENST00000301454.9 - 8 1151 c.987G>C c.(985-987)gaG>gaC p.E329D 0.5910224438902744 CACGGGGCCCCTCCCTCTCCA SLC25A23_ENST00000334510.9_MISSENSE_p.E329D 90 biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22) CH471139 NM_024103.2 NP_077008 HGNC:19375 solute_%20_carrier_%20_family_%20_25_%20_member_%20_23 Approved gene_%20_with_%20_protein_%20_product protein-coding_%20_gene "solute_%20_carrier_%20_family_%20_25_%20_(mitochondrial_%20_carrier_%3B__%20_phosphate_%20_carrier)_%2C__%20_member_%20_23" FLJ30339_%2C__%20_MGC2615_%2C__%20_APC2 19p13.3 2016-10-05 2016-02-18 AJ619962 79085 ENSG00000125648 15123600 NM_024103 752_%7C_863 Solute_%20_carriers_%7C_EF-hand_%20_domain_%20_containing CCDS32882 OTTHUMG00000180852 79085 608746 NM_024103 Q9BV35 ENSG00000125648 uc002mex.2 SCMC3_HUMAN B4DGB6_%7C_Q4LBC2_%7C_Q705K3_%7C_Q86Y43_%7C_Q8N2N4_%7C_Q96NQ4 Q9BV35 adenine_%20_nucleotide_%20_transport_%20_(GO:0051503)_%7C_cellular_%20_response_%20_to_%20_calcium_%20_ion_%20_(GO:0071277)_%7C_regulation_%20_of_%20_cellular_%20_respiration_%20_(GO:0043457)_%7C_regulation_%20_of_%20_oxidative_%20_phosphorylation_%20_(GO:0002082)_%7C_regulation_%20_of_%20_sequestering_%20_of_%20_calcium_%20_ion_%20_(GO:0051282)_%7C_transmembrane_%20_transport_%20_(GO:0055085)_%7C_urea_%20_homeostasis_%20_(GO:0097274) integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_mitochondrial_%20_inner_%20_membrane_%20_(GO:0005743) calcium_%20_ion_%20_binding_%20_(GO:0005509) 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 ] [ELOF1 hg38 chr19 11553253 11553253 INTRON SNP A A G g.chr19:11553253A>G ENST00000586683.5 - c.e4+198T>C 0.6084788029925187 GGAGAAGGAGAGCGGGAAGTC ELOF1_ENST00000587806.5_THREE_PRIME_UTR/ELOF1_ENST00000252445.7_THREE_PRIME_UTR 68 biliary_tract(2)_%7C_central_nervous_system(44)_%7C_pancreas(22) AC009001 HGNC:28691 elongation_%20_factor_%20_1_%20_homolog Approved gene_%20_with_%20_protein_%20_product protein-coding_%20_gene "elongation_%20_factor_%20_1_%20_homolog_%20_(ELF1_%2C__%20_S._%20_cerevisiae)"_%2C__%20_"elongation_%20_factor_%20_1_%20_homolog_%20_(S._%20_cerevisiae)" MGC4549_%2C__%20_ELF1 19p13.2 2016-02-10 2016-02-10 AK001171 84337 ENSG00000130165 12477932 NM_032377 CCDS12264 OTTHUMG00000182034 84337 NM_032377 P60002 ENSG00000130165 uc002mse.1 ELOF1_HUMAN Q8R1J7_%7C_Q96II4 P60002 regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0006355)_%7C_transcription_%2C__%20_DNA-templated_%20_(GO:0006351) nucleus_%20_(GO:0005634) metal_%20_ion_%20_binding_%20_(GO:0046872) true false 0.1446_%2C_0.8554 false false 1 false true true ELOF1:84337 true true false true true false false false false false false false false false false false false false false false 8606 11553253 true false 0 true 0 false 0.13587856778797145_%2C_0.86412143221202854 false true false SNV true 0x05010080000517053e000100 1 false 52 rs8606 ] [CCNE1 hg38 chr19 29823759 29823759 SILENT SNP C C T g.chr19:29823759C>T ENST00000262643.8 + 12 1401 c.1215C>T c.(1213-1215)agC>agT p.S405S 0.456359102244389 AGCAGAGCAGCGGGCCGGAAA CCNE1_ENST00000444983.6_SILENT_p.S390S/CCNE1_ENST00000357943.9_SILENT_p.S345S cyclin_%20_E1 898 19 19q12 yes serous_%20_ovarian E Dom A 1336 biliary_tract(27)_%7C_breast(243)_%7C_central_nervous_system(61)_%7C_kidney(112)_%7C_large_intestine(21)_%7C_lung(324)_%7C_ovary(124)_%7C_pancreas(30)_%7C_prostate(58)_%7C_skin(73)_%7C_soft_tissue(22)_%7C_stomach(121)_%7C_upper_aerodigestive_tract(120) X95406 NM_001322262.1 NP_001309191.1 HGNC:1589 cyclin_%20_E1 Approved gene_%20_with_%20_protein_%20_product protein-coding_%20_gene CCNE "cyclin_%20_Es"_%2C__%20_"cyclin_%20_Et" 19q12 2014-11-19 M73812 898 ENSG00000105173 1833066 NM_001238 473 Cyclins CCDS12419 OTTHUMG00000177626 898 123837 NM_001238 P24864 ENSG00000105173 uc002nsn.4 CCNE1_HUMAN A8K684_%7C_Q14091_%7C_Q8NFG1_%7C_Q92501_%7C_Q9UD21 P24864 androgen_%20_receptor_%20_signaling_%20_pathway_%20_(GO:0030521)_%7C_cell_%20_division_%20_(GO:0051301)_%7C_DNA_%20_replication_%20_initiation_%20_(GO:0006270)_%7C_G1/S_%20_transition_%20_of_%20_mitotic_%20_cell_%20_cycle_%20_(GO:0000082)_%7C_mitotic_%20_cell_%20_cycle_%20_(GO:0000278)_%7C_positive_%20_regulation_%20_of_%20_transcription_%2C__%20_DNA-templated_%20_(GO:0045893)_%7C_protein_%20_phosphorylation_%20_(GO:0006468)_%7C_regulation_%20_of_%20_cyclin-dependent_%20_protein_%20_serine/threonine_%20_kinase_%20_activity_%20_(GO:0000079)_%7C_regulation_%20_of_%20_transcription_%20_involved_%20_in_%20_G1/S_%20_transition_%20_of_%20_mitotic_%20_cell_%20_cycle_%20_(GO:0000083)_%7C_Wnt_%20_signaling_%20_pathway_%20_(GO:0016055) cyclin-dependent_%20_protein_%20_kinase_%20_holoenzyme_%20_complex_%20_(GO:0000307)_%7C_cytosol_%20_(GO:0005829)_%7C_nucleoplasm_%20_(GO:0005654)_%7C_nucleus_%20_(GO:0005634) androgen_%20_receptor_%20_binding_%20_(GO:0050681)_%7C_cyclin-dependent_%20_protein_%20_serine/threonine_%20_kinase_%20_regulator_%20_activity_%20_(GO:0016538)_%7C_kinase_%20_activity_%20_(GO:0016301)_%7C_transcription_%20_coactivator_%20_activity_%20_(GO:0003713) true false 0.8071_%2C_0.1929 false false 1 false true true CCNE1:898 true true false true true false false false false false false false false false false false false false false true 7257694 29823759 false false 0 true 0 true 0.72387869520897043_%2C_0.27612130479102956 false false false SNV true 0x050100000305170536000100 1 false 116 rs7257694 ] [SOX12 hg38 chr20 328637 328637 THREE_PRIME_UTR SNP T T C g.chr20:328637T>C ENST00000342665.4 + 1 0.5037406483790524 GTCTCGTAGCTGAGGGGTGGG NRSN2-AS1_ENST00000662580.1_RNA/NRSN2-AS1_ENST00000657126.1_FIVE_PRIME_FLANK 90 biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22) U35612 NM_006943.3 NP_008874 HGNC:11198 SRY-box_%20_12 Approved gene_%20_with_%20_protein_%20_product protein-coding_%20_gene SOX22 "SRY_%20_(sex_%20_determining_%20_region_%20_Y)-box_%20_22"_%2C__%20_"SRY_%20_(sex_%20_determining_%20_region_%20_Y)-box_%20_12"_%2C__%20_"SRY_%20_box_%20_12" 20p13 2015-11-23 2002-07-26 2015-11-23 U35612 6666 ENSG00000177732 9215677 NM_006943 757 SRY-boxes CCDS12995 OTTHUMG00000031623 6666 601947 NM_006943 O15370 ENSG00000177732 uc002wdh.5 SOX12_HUMAN Q5D038_%7C_Q9NUD4 O15370 cell_%20_fate_%20_commitment_%20_(GO:0045165)_%7C_positive_%20_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0045944)_%7C_protein-DNA_%20_complex_%20_assembly_%20_(GO:0065004)_%7C_regulation_%20_of_%20_transcription_%20_from_%20_RNA_%20_polymerase_%20_II_%20_promoter_%20_(GO:0006357)_%7C_spinal_%20_cord_%20_development_%20_(GO:0021510) nucleus_%20_(GO:0005634)_%7C_protein-DNA_%20_complex_%20_(GO:0032993) DNA_%20_binding_%20_(GO:0003677)_%7C_RNA_%20_polymerase_%20_II_%20_core_%20_promoter_%20_proximal_%20_region_%20_sequence-specific_%20_DNA_%20_binding_%20_transcription_%20_factor_%20_activity_%20_involved_%20_in_%20_positive_%20_regulation_%20_of_%20_transcription_%20_(GO:0001077)_%7C_RNA_%20_polymerase_%20_II_%20_transcription_%20_coactivator_%20_activity_%20_(GO:0001105)_%7C_transcription_%20_regulatory_%20_region_%20_sequence-specific_%20_DNA_%20_binding_%20_(GO:0000976) 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 ] [RRBP1 hg38 chr20 17614084 17614084 THREE_PRIME_UTR SNP G G A g.chr20:17614084G>A ENST00000360807.8 - 25 0.5511221945137157 CGGAAGTTGGGCCTGGATAAC RRBP1_ENST00000377813.6_THREE_PRIME_UTR/RRBP1_ENST00000470422.5_THREE_PRIME_UTR/RRBP1_ENST00000377807.6_THREE_PRIME_UTR/RRBP1_ENST00000246043.8_THREE_PRIME_UTR/RRBP1_ENST00000610403.4_THREE_PRIME_UTR 91 biliary_tract(2)_%7C_breast(12)_%7C_central_nervous_system(44)_%7C_large_intestine(11)_%7C_pancreas(22) NM_004587.2 NP_004578 HGNC:10448 ribosome_%20_binding_%20_protein_%20_1 Approved gene_%20_with_%20_protein_%20_product protein-coding_%20_gene "ribosome_%20_binding_%20_protein_%20_1_%20_(dog_%20_180kD_%20_homolog)"_%2C__%20_"ribosome_%20_binding_%20_protein_%20_1_%20_homolog_%20_180kDa_%20_(dog)" ES/130_%2C__%20_hES 20p12.1 2016-10-05 2012-12-07 AB037819 6238 ENSG00000125844 8812507 NM_001042576 CCDS13128 OTTHUMG00000031945 6238 601418 NM_001042576 Q9P2E9 ENSG00000125844 uc002wpw.2 RRBP1_HUMAN A2A2S6_%7C_A6NCN6_%7C_O75300_%7C_O75301_%7C_Q5W165_%7C_Q96SB2_%7C_Q9BWP1_%7C_Q9H476 Q9P2E9 osteoblast_%20_differentiation_%20_(GO:0001649)_%7C_protein_%20_transport_%20_(GO:0015031)_%7C_translation_%20_(GO:0006412) endoplasmic_%20_reticulum_%20_(GO:0005783)_%7C_integral_%20_component_%20_of_%20_endoplasmic_%20_reticulum_%20_membrane_%20_(GO:0030176)_%7C_membrane_%20_(GO:0016020)_%7C_ribosome_%20_(GO:0005840) poly(A)_%20_RNA_%20_binding_%20_(GO:0044822)_%7C_receptor_%20_activity_%20_(GO:0004872) true false 0.752_%2C_0.248 false false 1 false true false RRBP1:6238 true true false true true false false false false false false false false false false false false false false false 13734 17614084 false false 0 true 0 false 0.83648700305810397_%2C_0.16351299694189602 false true false SNV true 0x05010080000515053e000100 1 false 52 rs13734 ] [ACSS1 hg38 chr20 25007151 25007151 THREE_PRIME_UTR SNP A A G g.chr20:25007151A>G ENST00000323482.9 - 14 0.4014962593516209 ACAGAGGTACAAACATCTCCA ACSS1_ENST00000537502.5_THREE_PRIME_UTR/ACSS1_ENST00000432802.6_INTRON 158 biliary_tract(2)_%7C_breast(11)_%7C_central_nervous_system(44)_%7C_haematopoietic_and_lymphoid_tissue(68)_%7C_large_intestine(11)_%7C_pancreas(22) CH471133 NM_032501.3 NP_115890 HGNC:16091 acyl-CoA_%20_synthetase_%20_short_%20_chain_%20_family_%20_member_%20_1 Approved gene_%20_with_%20_protein_%20_product protein-coding_%20_gene ACAS2L "acetyl-Coenzyme_%20_A_%20_synthetase_%20_2_%20_(AMP_%20_forming)-like" dJ568C11.3_%2C__%20_AceCS2L_%2C__%20_MGC33843 20p11.21 2017-06-13 2005-09-08 2017-06-13 6.2.1.1 84532 ENSG00000154930 NM_032501 40 Acyl-CoA_%20_synthetase_%20_family CCDS13167_%2C__%20_CCDS58764_%2C__%20_CCDS58765 OTTHUMG00000032112 84532 614355 NM_001252675 Q9NUB1 ENSG00000154930 uc061vwl.1 ACS2L_HUMAN Adenosine_%20_monophosphate(DB00131)_%7C_Adenosine_%20_triphosphate(DB00171) B3KXL2_%7C_B4DJZ3_%7C_D3DW48_%7C_F5H6F4_%7C_F8W7Y1_%7C_Q5TF42_%7C_Q8IV99_%7C_Q8N234_%7C_Q96JI1_%7C_Q96JX6_%7C_Q9NU28 Q9NUB1 acetate_%20_biosynthetic_%20_process_%20_(GO:0019413)_%7C_acetyl-CoA_%20_biosynthetic_%20_process_%20_(GO:0006085)_%7C_acetyl-CoA_%20_biosynthetic_%20_process_%20_from_%20_acetate_%20_(GO:0019427)_%7C_ethanol_%20_oxidation_%20_(GO:0006069)_%7C_propionate_%20_biosynthetic_%20_process_%20_(GO:0019542)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281)_%7C_xenobiotic_%20_metabolic_%20_process_%20_(GO:0006805) mitochondrial_%20_matrix_%20_(GO:0005759) acetate-CoA_%20_ligase_%20_activity_%20_(GO:0003987)_%7C_AMP_%20_binding_%20_(GO:0016208)_%7C_ATP_%20_binding_%20_(GO:0005524) true false 0.9065_%2C_0.09345 false false 1 false true false ACSS1:84532 true true true true true false false false false false false false false false false true true false false false 6132784 25007151 false false 0 true 0 false 0.86344450815494393_%2C_0.13655549184505606 false true false SNV true 0x050128880005150536000100 1 false 114 rs6132784 ] [EFCAB8 hg38 chr20 32893629 32893629 INTRON SNP C C A g.chr20:32893629C>A ENST00000400522.8 + c.e9+331C>A 0.6309226932668329 CACTCTGATCCTGGGTGAGAG AL390298 NM_001143967.1 NP_001137439.1 HGNC:34532 EF-hand_%20_calcium_%20_binding_%20_domain_%20_8 Approved gene_%20_with_%20_protein_%20_product protein-coding_%20_gene 20q11.21 2014-11-18 388795 ENSG00000215529 XM_371397 863 EF-hand_%20_domain_%20_containing OTTHUMG00000153693 388795 XM_011529121 A8MWE9 ENSG00000215529 uc061wfj.1 EFCB8_HUMAN A8MWE9 calcium_%20_ion_%20_binding_%20_(GO:0005509) 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 ] [RNU12-2P hg38 chrX 47129510 47129510 FIVE_PRIME_FLANK SNP G G T g.chrX:47129510G>T ENST00000364789.1 + 0.5610972568578554 CTGCTCCAAAGAACAATTGAT HGNC:10109 RNA_%2C__%20_U12_%20_small_%20_nuclear_%20_2_%2C__%20_pseudogene Approved pseudogene pseudogene RNU12_%2C__%20_RNU12P "RNA_%2C__%20_U12_%20_small_%20_nuclear"_%2C__%20_"RNA_%2C__%20_U12_%20_small_%20_nuclear_%20_pseudogene" U12 Xp11.23 2014-11-19 2009-11-06 2011-04-15 L43845 26823 ENSG00000201659 7489523 NG_013273 26823 NG_013273 ENSG00000201659 uc064ytu.1 hg38 OREG1883230 Type_%3D_TRANSCRIPTION_%20_FACTOR_%20_BINDING_%20_SITE_%7C_Gene_Symbol_%3D_RNU12-2P_%7C_Gene_ID_%3D_ENSG00000201659_%7C_Gene_Source_%3D_ENSEMBL_%7C_Regulatory_Element_Symbol_%3D_STAT1_%7C_Regulatory_Element_ID_%3D_ENST00000423282_%7C_Regulatory_Element_Source_%3D_ENSEMBL_%7C_PMID_%3D_18971253_%7C_Dataset_%3D_PAZAR true false false false false false false LOC105373193:105373193_%7C_LOC107985720:107985720 false false true false false false false false false false false false false false false false false false true false 1258181709 47129510 false false 0 false 0 false 0.99996018093781855_%2C_0.00003981906218144 false false false SNV false 0x0500000a0005000002000100 1 false 151 rs1258181709 ] [MT-ND4 hg38 chrM 11312 11312 MISSENSE SNP G G A g.chrM:11312G>A ENST00000361381.2 + 1 553 c.553G>A c.(553-555)Gaa>Aaa p.E185K 0.456359102244389 CACTGCCCAAGAACTATCAAA MT-ND5_ENST00000361567.2_FIVE_PRIME_FLANK/MT-CYB_ENST00000361789.2_FIVE_PRIME_FLANK/MT-TS1_ENST00000387416.2_FIVE_PRIME_FLANK/MT-TH_ENST00000387441.1_FIVE_PRIME_FLANK/MT-TS2_ENST00000387449.1_FIVE_PRIME_FLANK/MT-TL2_ENST00000387456.1_FIVE_PRIME_FLANK/MT-TT_ENST00000387460.2_FIVE_PRIME_FLANK 188 haematopoietic_and_lymphoid_tissue(188) V00662 HGNC:7459 mitochondrially_%20_encoded_%20_NADH:ubiquinone_%20_oxidoreductase_%20_core_%20_subunit_%20_4 Approved gene_%20_with_%20_protein_%20_product protein-coding_%20_gene MTND4_%2C__%20_LHON "NADH_%20_dehydrogenase_%20_4"_%2C__%20_"Leber_%20_optic_%20_neuropathy"_%2C__%20_"mitochondrially_%20_encoded_%20_NADH_%20_dehydrogenase_%20_4" ND4_%2C__%20_NAD4 "complex_%20_I_%20_ND4_%20_subunit"_%2C__%20_"NADH-ubiquinone_%20_oxidoreductase_%20_chain_%20_4" mitochondria 2015-11-20 2005-02-16 2015-11-20 1.6.5.3 4538 ENSG00000198886 8103501 YP_003024035 1149 NADH:ubiquinone_%20_oxidoreductase_%20_core_%20_subunits 4538 516003 P03905 ENSG00000198886 uc064xpj.1 NU4M_HUMAN Q6RL39_%7C_Q6RQN9_%7C_Q8HNR8 P03905 cellular_%20_metabolic_%20_process_%20_(GO:0044237)_%7C_mitochondrial_%20_electron_%20_transport_%2C__%20_NADH_%20_to_%20_ubiquinone_%20_(GO:0006120)_%7C_respiratory_%20_electron_%20_transport_%20_chain_%20_(GO:0022904)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281) integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_mitochondrial_%20_inner_%20_membrane_%20_(GO:0005743)_%7C_mitochondrial_%20_respiratory_%20_chain_%20_complex_%20_I_%20_(GO:0005747) NADH_%20_dehydrogenase_%20_(ubiquinone)_%20_activity_%20_(GO:0008137) 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 ] [MT-ND4 hg38 chrM 11864 11864 SILENT SNP T T C g.chrM:11864T>C ENST00000361381.2 + 1 1105 c.1105T>C c.(1105-1107)Tta>Cta p.L369L 0.4613466334164589 TAACCTCGCCTTACCCCCCAC MT-ND5_ENST00000361567.2_FIVE_PRIME_FLANK/MT-CYB_ENST00000361789.2_FIVE_PRIME_FLANK/MT-TS1_ENST00000387416.2_FIVE_PRIME_FLANK/MT-TH_ENST00000387441.1_FIVE_PRIME_FLANK/MT-TS2_ENST00000387449.1_FIVE_PRIME_FLANK/MT-TL2_ENST00000387456.1_FIVE_PRIME_FLANK/MT-TT_ENST00000387460.2_FIVE_PRIME_FLANK 188 haematopoietic_and_lymphoid_tissue(188) V00662 HGNC:7459 mitochondrially_%20_encoded_%20_NADH:ubiquinone_%20_oxidoreductase_%20_core_%20_subunit_%20_4 Approved gene_%20_with_%20_protein_%20_product protein-coding_%20_gene MTND4_%2C__%20_LHON "NADH_%20_dehydrogenase_%20_4"_%2C__%20_"Leber_%20_optic_%20_neuropathy"_%2C__%20_"mitochondrially_%20_encoded_%20_NADH_%20_dehydrogenase_%20_4" ND4_%2C__%20_NAD4 "complex_%20_I_%20_ND4_%20_subunit"_%2C__%20_"NADH-ubiquinone_%20_oxidoreductase_%20_chain_%20_4" mitochondria 2015-11-20 2005-02-16 2015-11-20 1.6.5.3 4538 ENSG00000198886 8103501 YP_003024035 1149 NADH:ubiquinone_%20_oxidoreductase_%20_core_%20_subunits 4538 516003 P03905 ENSG00000198886 uc064xpj.1 NU4M_HUMAN Q6RL39_%7C_Q6RQN9_%7C_Q8HNR8 P03905 cellular_%20_metabolic_%20_process_%20_(GO:0044237)_%7C_mitochondrial_%20_electron_%20_transport_%2C__%20_NADH_%20_to_%20_ubiquinone_%20_(GO:0006120)_%7C_respiratory_%20_electron_%20_transport_%20_chain_%20_(GO:0022904)_%7C_small_%20_molecule_%20_metabolic_%20_process_%20_(GO:0044281) integral_%20_component_%20_of_%20_membrane_%20_(GO:0016021)_%7C_mitochondrial_%20_inner_%20_membrane_%20_(GO:0005743)_%7C_mitochondrial_%20_respiratory_%20_chain_%20_complex_%20_I_%20_(GO:0005747) NADH_%20_dehydrogenase_%20_(ubiquinone)_%20_activity_%20_(GO:0008137) true false false false false false false ND4:4538 false false false false false false false false false false false false false false false false false false false true 878955413 11864 false false 0 false 0 true false false false SNV false 0x050000000305000002000100 1 false 147 rs878955413 ]