Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
X-108887265-C-G p.Gly710Ala missense ACSL4 1 83002 1.20479E-5 41501 0 NA
X-108887304-C-T p.Arg697Lys missense ACSL4 1 82680 1.20948E-5 41340 0 NA
X-108887357-G-T p.Thr679Thr synonymous ACSL4 6 82308 7.28969E-5 41154 1 5.4707E-5
X-108887366-C-T p.Glu676Glu synonymous ACSL4 12 82228 1.45936E-4 41114 3 1.04115E-4
X-108887380-G-C p.Arg672Gly missense ACSL4 1 81878 1.22133E-5 40939 0 NA
X-108887383-C-A p.Val671Phe missense ACSL4 1 81918 1.22073E-5 40959 0 NA
X-108887389-T-C p.Ile669Val missense ACSL4 4 81804 4.88974E-5 40902 1 9.2098E-5
X-108887407-C-T p.Glu663Lys missense ACSL4 1 81466 1.22751E-5 40733 0 NA
X-108902573-TCTTA-T c.1978+6_1978+9delTAAG splice_region ACSL4 3 82100 3.65408E-5 41050 1 1.14646E-5
X-108902650-A-G p.Ter156Argext*? stop_lost ACSL4 2 82504 2.42412E-5 41252 0 0.0025
X-108902656-A-G p.Thr635Thr synonymous ACSL4 2 82490 2.42454E-5 41245 1 NA
X-108902674-C-G p.Gln629His missense ACSL4 2 82486 2.42465E-5 41243 0 1.09234E-5
X-108902689-T-C p.Thr624Thr synonymous ACSL4 2 82508 2.42401E-5 41254 1 NA
X-108902692-C-T p.Leu623Leu synonymous ACSL4 1 82508 1.212E-5 41254 0 NA
X-108904779-T-C p.Ile601Val missense ACSL4 2 81816 2.44451E-5 40908 1 NA
X-108904788-T-C p.Ile598Val missense ACSL4 4 81878 4.88532E-5 40939 0 9.16076E-5
X-108904791-G-A p.Leu597Phe missense ACSL4 1 81906 1.22091E-5 40953 0 NA
X-108904834-A-G p.Tyr582Tyr synonymous ACSL4 1 81602 1.22546E-5 40801 0 5.46732E-6
X-108906437-G-C c.1705+3C>G splice_region ACSL4 1 81938 1.22043E-5 40969 0 NA
X-108906459-A-G p.Asp562Asp synonymous ACSL4 1 82550 1.21139E-5 41275 0 2.31613E-5
X-108906462-G-A p.Pro561Pro synonymous ACSL4 17 82546 2.05946E-4 41273 4 4.59327E-5
X-108906473-C-G p.Glu558Gln missense ACSL4 1 82670 1.20963E-5 41335 0 2.30859E-5
X-108906475-C-G p.Gly557Ala missense ACSL4 1 82686 1.20939E-5 41343 0 NA
X-108906489-G-C p.Cys552Trp missense ACSL4 2 82732 2.41744E-5 41366 1 NA
X-108906514-T-C p.Asp544Gly missense ACSL4 5 82720 6.04449E-5 41360 2 2.27448E-4
X-108906520-G-T p.Ser542Tyr missense ACSL4 1 82710 1.20904E-5 41355 0 1.14379E-5
X-108906520-G-A p.Ser542Phe missense ACSL4 2 82710 2.41809E-5 41355 1 0.00125
X-108906532-G-A p.Ala538Val missense ACSL4 5 82688 6.04683E-5 41344 2 1.64205E-5
X-108906546-A-G p.Asn533Asn synonymous ACSL4 16 82628 1.93639E-4 41314 4 0.00137646
X-108906563-T-C p.Met528Val missense ACSL4 1 82576 1.21101E-5 41288 0 4.55498E-5
X-108906569-T-C p.Ile526Val missense ACSL4 4 82542 4.84602E-5 41271 1 1.82149E-4
X-108906605-T-C p.Asn514Asp missense ACSL4 2 82230 2.4322E-5 41115 1 NA
X-108906608-G-C p.Pro513Ala missense ACSL4 2 82160 2.43427E-5 41080 0 1.14474E-5
X-108906620-T-TAAAG p.Ile509fs frameshift ACSL4 1 81904 1.22094E-5 40952 0 NA
X-108906629-C-T p.Gly506Ser missense+splice_region ACSL4 1 81512 1.22681E-5 40756 0 4.55332E-5
X-108906630-G-A p.Gly505Gly splice_region+synonymous ACSL4 2 81414 2.45658E-5 40707 0 1.49482E-4
X-108906638-A-G c.1514-7T>C splice_region ACSL4 151 81024 0.00186365 40512 20 0.00294357
X-108908714-T-C p.Tyr483Cys missense ACSL4 78 82208 9.48813E-4 41104 21 0.0025
X-108911325-C-T c.1438+5G>A splice_region ACSL4 1 82160 1.21714E-5 41080 0 5.5579E-6
X-108911384-T-C p.Ile462Val missense ACSL4 1 83088 1.20354E-5 41544 0 2.28076E-5
X-108911394-G-A p.Phe458Phe synonymous ACSL4 3 83154 3.60776E-5 41577 1 1.14051E-5
X-108911433-C-T p.Pro445Pro synonymous ACSL4 13 83046 1.5654E-4 41523 3 6.8918E-4
X-108911435-G-A p.Pro445Ser missense ACSL4 2 83070 2.40761E-5 41535 1 NA
X-108911454-C-A p.Met438Ile missense ACSL4 1 82970 1.20525E-5 41485 0 NA
X-108911458-C-T p.Arg437His missense ACSL4 2 82886 2.41295E-5 41443 0 5.55534E-6
X-108911465-T-C p.Asn435Asp missense ACSL4 4 82858 4.82754E-5 41429 2 1.05618E-4
X-108911472-C-A p.Leu432Leu synonymous ACSL4 1 82778 1.20805E-5 41389 0 5.54447E-6
X-108911482-T-C p.Lys429Arg missense ACSL4 1 82582 1.21092E-5 41291 0 1.16267E-5
X-108911502-C-CAGATTG c.1266-1_1266insCAATCT splice_acceptor ACSL4 2 81796 2.44511E-5 40898 1 NA
X-108912310-G-A p.Tyr406Tyr synonymous ACSL4 1 82028 1.2191E-5 41014 0 NA
X-108912331-C-A p.Leu399Leu synonymous ACSL4 2 81920 2.44141E-5 40960 0 1.14213E-5
X-108912358-T-C p.Gln390Gln synonymous ACSL4 2 81622 2.45032E-5 40811 0 1.10753E-5
X-108912406-A-G c.1126-4T>C splice_region ACSL4 2 79900 2.50313E-5 39950 1 1.68213E-5
X-108917631-C-T p.Pro375Pro splice_region+synonymous ACSL4 2 82200 2.43309E-5 41100 0 4.56017E-5
X-108917710-A-G c.1054-8T>C splice_region ACSL4 2 81058 2.46737E-5 40529 1 5.6181E-6
X-108921218-T-C p.Gln351Arg missense+splice_region ACSL4 1 83062 1.20392E-5 41531 0 5.44965E-6
X-108921235-C-T p.Pro345Pro synonymous ACSL4 1 83104 1.20331E-5 41552 0 4.62535E-5
X-108921247-T-C p.Gly341Gly synonymous ACSL4 19 83132 2.28552E-4 41566 4 0.004375
X-108921250-A-G p.Ile340Ile synonymous ACSL4 4 83156 4.81024E-5 41578 1 9.17389E-5
X-108921335-T-C p.Lys312Arg missense ACSL4 2 83152 2.40523E-5 41576 1 1.13954E-5
X-108921337-C-T p.Pro311Pro synonymous ACSL4 5 83112 6.01598E-5 41556 1 1.93745E-4
X-108921338-G-A p.Pro311Leu missense+splice_region ACSL4 2 83118 2.40622E-5 41559 0 6.87758E-4
X-108921341-C-CCCAGTCCAGG c.930-2_930-1insCCTGGACTGG splice_acceptor ACSL4 6 83108 7.21952E-5 41554 3 NA
X-108921341-C-CCCAGTCCAGGTATTCTTTCACACTGGCCTGTCATTCCAGCTA c.930-2_930-1insTAGCTGGAATGACAGGCCAGTGTGAAAGAATACCTGGACTGG splice_acceptor ACSL4 2 83110 2.40645E-5 41555 1 NA
X-108921486-T-G c.929+8A>C splice_region ACSL4 19 82996 2.28927E-4 41498 6 3.64398E-4
X-108921491-T-C c.929+3A>G splice_region ACSL4 80 83002 9.63832E-4 41501 22 8.6588E-4
X-108921525-T-C p.Thr300Ala missense ACSL4 2 83080 2.40732E-5 41540 1 NA
X-108921572-C-T p.Arg284Gln missense ACSL4 1 83054 1.20404E-5 41527 0 1.63493E-5
X-108921604-G-A p.Ala273Ala synonymous ACSL4 7 82914 8.44248E-5 41457 2 0.00125
X-108921610-G-A p.Asp271Asp synonymous ACSL4 3 82874 3.61995E-5 41437 1 NA
X-108921619-C-T p.Thr268Thr synonymous ACSL4 1 82718 1.20893E-5 41359 0 6.90131E-4
X-108921620-G-A p.Thr268Met missense ACSL4 3 82704 3.62739E-5 41352 1 4.55882E-5
X-108921644-A-AAGTTTTCTGGGTTAGATCCCAACTCTTCTACTGATTGCATGCTGTGAATCT c.779-1_779insAGATTCACAGCATGCAATCAGTAGAAGAGTTGGGATCTAACCCAGAAAACT splice_acceptor ACSL4 6 82372 7.28403E-5 41186 3 NA
X-108921644-A-AAGTTTTCTGGGTTAGATCCCAACTCTT c.779-1_779insAAGAGTTGGGATCTAACCCAGAAAACT splice_acceptor ACSL4 2 82372 2.42801E-5 41186 1 NA
X-108924243-T-G p.Gly254Gly synonymous ACSL4 6 82652 7.25935E-5 41326 1 6.88231E-4
X-108924292-T-C p.Tyr238Cys missense ACSL4 2 82732 2.41744E-5 41366 1 1.14142E-5
X-108924294-C-T p.Glu237Glu synonymous ACSL4 3 82760 3.62494E-5 41380 0 1.14141E-5
X-108924326-A-G p.Tyr227His missense ACSL4 1 82684 1.20942E-5 41342 0 1.14226E-5
X-108924352-T-C p.Asp218Gly missense ACSL4 1 82652 1.20989E-5 41326 0 NA
X-108924359-A-G p.Leu216Leu synonymous ACSL4 4 82608 4.84215E-5 41304 1 5.4817E-6
X-108924367-T-TTAA c.640-3_640-2insTTA splice_region ACSL4 8 82580 9.68758E-5 41290 4 NA
X-108924371-G-A c.640-6C>T splice_region ACSL4 17 82538 2.05966E-4 41269 3 5.50715E-6
X-108924487-A-C c.639+8T>G splice_region ACSL4 31 82690 3.74894E-4 41345 7 0.00250627
X-108924526-G-A p.Thr203Ile missense ACSL4 1 82886 1.20648E-5 41443 0 NA
X-108924553-T-C p.Asn194Ser missense ACSL4 5 82850 6.035E-5 41425 1 9.14307E-5
X-108924568-A-G p.Val189Ala missense ACSL4 2 82706 2.4182E-5 41353 1 NA
X-108924600-C-A p.Val178Val synonymous ACSL4 3 81874 3.66417E-5 40937 1 NA
X-108924604-A-AGAGGAAAGTTGTACTTAAAGCAGGTCTGTGCTGCAATCATCCATTCGGC c.530-1_530insGCCGAATGGATGATTGCAGCACAGACCTGCTTTAAGTACAACTTTCCTC splice_acceptor ACSL4 4 81708 4.89548E-5 40854 2 NA
X-108924604-A-AGAGGAAAGTTGTACTTAAAGCAGGTCTGTGCTGCAATCATCCATTCGG c.530-1_530insCCGAATGGATGATTGCAGCACAGACCTGCTTTAAGTACAACTTTCCTC splice_acceptor ACSL4 7 81708 8.56709E-5 40854 3 NA
X-108924609-A-G c.530-5T>C splice_region ACSL4 1 81378 1.22883E-5 40689 0 5.65176E-6
X-108925956-T-C p.Asn174Ser missense ACSL4 3 83046 3.61246E-5 41523 0 1.2538E-4
X-108925959-T-A p.Tyr173Phe missense ACSL4 1 83056 1.20401E-5 41528 0 2.27941E-5
X-108925991-T-C p.Glu162Glu synonymous ACSL4 10 83152 1.20262E-4 41576 2 9.12909E-5
X-108925994-G-A p.Ala161Ala synonymous ACSL4 5 83150 6.01323E-5 41575 1 0.00375
X-108926015-G-A p.Ala154Ala synonymous ACSL4 2 83176 2.40454E-5 41588 0 NA
X-108926060-A-C p.Gly139Gly synonymous ACSL4 6 83044 7.22509E-5 41522 1 4.54236E-5
X-108926070-T-C p.Asn136Ser missense ACSL4 1 83012 1.20465E-5 41506 0 1.14078E-5
X-108926079-C-T p.Arg133His missense ACSL4 2 82856 2.41383E-5 41428 1 NA
X-108926109-T-A p.Tyr123Phe missense ACSL4 6 82380 7.28332E-5 41190 2 1.36184E-4
X-108926119-G-A p.Leu120Phe missense ACSL4 1 82024 1.21916E-5 41012 0 1.64264E-5
X-108926126-C-CTTCTTAAAAACTTTTCCATT c.352-2_352-1insAATGGAAAAGTTTTTAAGAA splice_acceptor ACSL4 3 81734 3.67044E-5 40867 1 NA
X-108926446-A-AGACTGGAGTGC p.Phe90fs frameshift ACSL4 1 82956 1.20546E-5 41478 0 NA
X-108926448-A-ATGGTATGAT p.Lys89_Phe90insIleIlePro conservative_inframe_insertion ACSL4 1 82948 1.20557E-5 41474 0 NA
X-108926481-G-A p.Leu79Leu synonymous ACSL4 1 82970 1.20525E-5 41485 0 8.18143E-5
X-108926482-A-G p.Thr78Thr synonymous ACSL4 1 82960 1.2054E-5 41480 0 NA
X-108926497-G-A p.Ile73Ile synonymous ACSL4 3 82984 3.61515E-5 41492 0 4.52776E-5
X-108926498-A-T p.Ile73Asn missense ACSL4 1 82970 1.20525E-5 41485 0 NA
X-108926503-T-C p.Ile71Met missense ACSL4 12 82992 1.44592E-4 41496 3 0.003125
X-108926507-A-G p.Val70Ala missense ACSL4 2 83002 2.40958E-5 41501 1 1.35913E-4
X-108926520-C-T p.Asp66Asn missense ACSL4 3 82988 3.61498E-5 41494 0 NA
X-108926525-T-C p.His64Arg missense ACSL4 27 83012 3.25254E-4 41506 4 4.53618E-5
X-108926543-G-A p.Pro58Leu missense ACSL4 2 83004 2.40952E-5 41502 1 NA
X-108926568-G-T p.Pro50Thr missense ACSL4 2 82880 2.41313E-5 41440 1 NA
X-108926595-C-T p.Ala41Thr missense ACSL4 4 82516 4.84754E-5 41258 1 9.05756E-5
X-108926603-T-TTCGGAGGGGCGGCCCACCGCG p.Lys37_Lys38insThrArgTrpAlaAlaProPro conservative_inframe_insertion ACSL4 1 82518 1.21186E-5 41259 0 NA
X-108926607-T-C p.Lys37Glu missense ACSL4 2 82438 2.42607E-5 41219 0 2.28144E-5
X-108926609-G-C p.Ala36Gly missense ACSL4 2 82350 2.42866E-5 41175 1 NA
X-108926622-A-G p.Phe32Leu missense ACSL4 12 82218 1.45953E-4 41109 2 4.92619E-5
X-108926644-G-A p.Ala24Ala synonymous ACSL4 116 81902 0.00141633 40951 30 0.00330751
X-108926674-A-G p.Pro14Pro synonymous ACSL4 1 81524 1.22663E-5 40762 0 1.10286E-5
X-108926680-C-T p.Leu12Leu synonymous ACSL4 1 81478 1.22733E-5 40739 0 7.17499E-5
X-108926703-G-C p.Leu5Val missense ACSL4 2 80930 2.47127E-5 40465 1 NA
X-108926828-C-A c.-113G>T 5_prime_UTR_premature_start_codon_gain ACSL4 1 64978 1.53898E-5 32489 0 4.58695E-5
X-108926881-G-A c.-166C>T 5_prime_UTR_premature_start_codon_gain ACSL4 2 55564 3.59945E-5 27782 0 NA
X-108926892-A-ACGCCGGAGGGGCGGCCCACCGCGTCTTCGCAGCCGGCCGG c.-178_-177insCCGGCCGGCTGCGAAGACGCGGTGGGCCGCCCCTCCGGCG splice_region ACSL4 1 54050 1.85014E-5 27025 0 NA
X-108926893-C-T c.-178G>A splice_region ACSL4 2 53404 3.74504E-5 26702 1 4.62834E-5
X-108926894-G-A c.-179C>T splice_region ACSL4 1 53374 1.87357E-5 26687 0 4.60851E-5
X-108926895-C-T c.-180G>A splice_region ACSL4 2 53326 3.75052E-5 26663 0 NA
X-108939404-G-A c.-230C>T 5_prime_UTR_premature_start_codon_gain ACSL4 3 2952 0.00101626 1476 1 4.55539E-5
X-108939426-C-CGGAGGGGCGGCCCACCGCG c.-251-2_-251-1insCGCGGTGGGCCGCCCCTCC splice_acceptor ACSL4 8 2956 0.00270636 1478 2 NA
X-108939427-T-TCTTC c.-251-3_-251-2insGAAG splice_region ACSL4 1 2944 3.39674E-4 1472 0 NA