Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
5-131186959-C-T c.*827G>A splice_region ACSL6 2 47558 4.20539E-5 23779 0 1.59297E-4
5-131186959-C-G c.*827G>C splice_region ACSL6 1 47556 2.10278E-5 23778 0 NA
5-131187075-A-G c.*711T>C splice_region ACSL6 1 47744 2.0945E-5 23872 0 NA
5-131247506-A-G c.*628+2T>C splice_donor ACSL6 4 42386 9.43708E-5 21193 0 9.56328E-5
5-131247508-C-G c.*628G>C splice_region ACSL6 1 42406 2.35816E-5 21203 0 NA
5-131247571-C-T c.*565G>A splice_region ACSL6 1 42438 2.35638E-5 21219 0 NA
5-131247579-C-A c.*564-7G>T splice_region ACSL6 2 42380 4.71921E-5 21190 0 NA
5-131252578-C-T c.*563+1G>A splice_donor ACSL6 1 42644 2.345E-5 21322 0 6.37999E-5
5-131252578-C-G c.*563+1G>C splice_donor ACSL6 1 42644 2.345E-5 21322 0 NA
5-131252579-G-A c.*563C>T splice_region ACSL6 5 42646 1.17244E-4 21323 0 NA
5-131269336-T-A c.*275-2A>T splice_acceptor ACSL6 1 42704 2.3417E-5 21352 0 NA
5-131278327-C-G c.*274+1G>C splice_donor ACSL6 1 42622 2.34621E-5 21311 0 NA
5-131280360-G-A c.*211C>T splice_region ACSL6 1 42768 2.3382E-5 21384 0 3.18552E-5
5-131280845-A-G c.*125+4T>C splice_region ACSL6 5 42636 1.17272E-4 21318 0 3.18552E-5
5-131280850-T-G c.*124A>C splice_region ACSL6 1 42646 2.34489E-5 21323 0 NA
5-131280851-G-C c.*123C>G splice_region ACSL6 1 42650 2.34467E-5 21325 0 NA
5-131280945-G-A c.*32-3C>T splice_region ACSL6 1 42704 2.3417E-5 21352 0 NA
5-131283279-G-A c.*29C>T splice_region ACSL6 2 52646 3.79896E-5 26323 0 2.5194E-5
5-131283327-T-A p.Lys662Met missense ACSL6 1 52620 1.90042E-5 26310 0 NA
5-131289598-T-C c.*329A>G splice_region ACSL6 2 45010 4.44346E-5 22505 0 3.1837E-5
5-131289599-G-A c.*328C>T splice_region ACSL6 1 45026 2.22094E-5 22513 0 NA
5-131289937-A-AT p.Ile720fs frameshift ACSL6 1 83028 1.20441E-5 41514 0 5.02092E-5
5-131289969-G-C p.Tyr709* stop_gained ACSL6 1 83038 1.20427E-5 41519 0 3.99045E-6
5-131289975-T-C p.Arg707Arg synonymous ACSL6 2 83046 2.4083E-5 41523 0 7.96781E-6
5-131289999-T-G p.Leu699Leu synonymous ACSL6 1 82992 1.20494E-5 41496 0 NA
5-131290001-G-T p.Leu699Ile missense ACSL6 1 82986 1.20502E-5 41493 0 NA
5-131290005-T-C p.Pro697Pro synonymous ACSL6 1 82972 1.20523E-5 41486 0 2.78873E-5
5-131290011-C-T p.Leu695Leu synonymous ACSL6 1 82958 1.20543E-5 41479 0 3.32127E-5
5-131290020-A-G p.Asn692Asn synonymous ACSL6 2 82968 2.41057E-5 41484 0 3.18451E-5
5-131290042-G-T p.Ser685Tyr missense ACSL6 2 82890 2.41284E-5 41445 0 4.01104E-6
5-131295221-A-G c.2031+8T>C splice_region ACSL6 10 83264 1.201E-4 41632 1 1.91058E-4
5-131295234-C-G p.Glu676Gln missense ACSL6 4 83298 4.80204E-5 41649 0 3.18431E-5
5-131295250-A-G p.Ser670Ser synonymous ACSL6 6 83308 7.20219E-5 41654 0 2.23015E-4
5-131295258-T-C p.Lys668Glu missense ACSL6 1 83314 1.20028E-5 41657 0 3.97703E-6
5-131295272-A-G p.Met663Thr missense ACSL6 1 83306 1.20039E-5 41653 0 NA
5-131295282-A-G p.Leu660Leu synonymous ACSL6 2 83300 2.40096E-5 41650 0 NA
5-131295302-T-TTATTTGTGCA c.1960-3_1960-2insTGCACAAATA splice_region ACSL6 6 83262 7.20617E-5 41631 3 NA
5-131296211-A-G c.1959+2T>C splice_donor ACSL6 1 82968 1.20528E-5 41484 0 NA
5-131296219-T-C p.Thr651Thr synonymous ACSL6 2 82972 2.41045E-5 41486 0 3.18492E-5
5-131296221-T-C p.Thr651Ala missense ACSL6 4 82976 4.82067E-5 41488 0 6.25E-4
5-131296234-A-G p.Tyr646Tyr synonymous ACSL6 1 82942 1.20566E-5 41471 0 8.27007E-6
5-131296237-T-C p.Thr645Thr synonymous ACSL6 2 82934 2.41156E-5 41467 0 NA
5-131296247-A-G p.Ile642Thr missense ACSL6 2 82942 2.41132E-5 41471 0 NA
5-131296251-C-T p.Gly641Arg missense ACSL6 1 82938 1.20572E-5 41469 0 3.18431E-5
5-131296257-T-C p.Lys639Glu missense ACSL6 1 82882 1.20653E-5 41441 0 NA
5-131296261-G-A p.Ala637Ala synonymous ACSL6 5 82830 6.03646E-5 41415 0 5.18056E-5
5-131296269-A-G p.Ser635Pro missense ACSL6 1 82802 1.2077E-5 41401 0 1.19526E-5
5-131296275-T-C p.Met633Val missense ACSL6 1 82798 1.20776E-5 41399 0 NA
5-131296278-C-T p.Val632Ile missense ACSL6 1 82786 1.20793E-5 41393 0 NA
5-131296279-T-C p.Glu631Glu synonymous ACSL6 5 82778 6.04025E-5 41389 0 8.28253E-5
5-131296289-G-C p.Pro628Arg missense ACSL6 1 82706 1.2091E-5 41353 0 NA
5-131296291-C-T p.Val627Val synonymous ACSL6 1 82696 1.20925E-5 41348 0 NA
5-131296292-A-G p.Val627Ala missense ACSL6 1 82702 1.20916E-5 41351 0 2.49103E-5
5-131296297-A-T p.Ile625Ile synonymous ACSL6 1 82670 1.20963E-5 41335 0 NA
5-131296305-C-T p.Val623Ile missense ACSL6 1 82584 1.21089E-5 41292 0 8.33973E-6
5-131296305-C-A p.Val623Leu missense ACSL6 1 82584 1.21089E-5 41292 0 8.33973E-6
5-131296308-A-G p.Leu622Leu synonymous ACSL6 1 82582 1.21092E-5 41291 0 NA
5-131296310-A-C p.Phe621Cys missense ACSL6 1 82574 1.21103E-5 41287 0 NA
5-131296312-G-T p.Ala620Ala splice_region+synonymous ACSL6 1 82542 1.2115E-5 41271 0 NA
5-131298220-G-A c.1857+8C>T splice_region ACSL6 213 82722 0.00257489 41361 1 0.00356756
5-131298221-G-C c.1857+7C>G splice_region ACSL6 1 82732 1.20872E-5 41366 0 NA
5-131298241-C-G p.Gly615Ala missense ACSL6 1 82966 1.20531E-5 41483 0 NA
5-131298258-C-T p.Ala609Ala synonymous ACSL6 2 83060 2.4079E-5 41530 0 1.59418E-4
5-131298259-G-A p.Ala609Val missense ACSL6 9 83052 1.08366E-4 41526 0 6.37389E-5
5-131298266-G-T p.Pro607Thr missense ACSL6 1 83090 1.20351E-5 41545 0 3.18857E-5
5-131298270-G-A p.Ser605Ser synonymous ACSL6 56 83108 6.73822E-4 41554 0 9.56023E-4
5-131298271-C-T p.Ser605Asn missense ACSL6 18 83108 2.16586E-4 41554 0 1.27356E-4
5-131298273-C-T p.Arg604Arg synonymous ACSL6 398 83094 0.00478976 41547 3 0.00704935
5-131298274-C-T p.Arg604Gln missense ACSL6 1 83106 1.20328E-5 41553 0 7.96033E-6
5-131298275-G-A p.Arg604Trp missense ACSL6 3 83122 3.60915E-5 41561 0 2.47219E-5
5-131298275-G-C p.Arg604Gly missense ACSL6 1 83122 1.20305E-5 41561 0 NA
5-131298277-A-T p.Ile603Asn missense ACSL6 1 83128 1.20296E-5 41564 0 NA
5-131298292-A-G p.Ile598Thr missense ACSL6 1 83194 1.20201E-5 41597 0 6.37511E-5
5-131298300-G-A p.Pro595Pro synonymous ACSL6 6 83200 7.21154E-5 41600 0 4.94372E-5
5-131298309-A-G p.Tyr592Tyr synonymous ACSL6 2 83222 2.40321E-5 41611 0 NA
5-131298339-C-T p.Lys582Lys synonymous ACSL6 1 83184 1.20215E-5 41592 0 8.24294E-6
5-131298345-C-T p.Arg580Arg synonymous ACSL6 6 83162 7.21483E-5 41581 0 2.47341E-5
5-131298345-C-A p.Arg580Arg synonymous ACSL6 1 83162 1.20247E-5 41581 0 NA
5-131298346-C-T p.Arg580Gln missense ACSL6 2 83162 2.40494E-5 41581 0 3.19183E-5
5-131298347-G-T p.Arg580Arg synonymous ACSL6 1 83162 1.20247E-5 41581 0 3.1904E-5
5-131298365-T-C p.Thr574Ala missense ACSL6 1 83074 1.20375E-5 41537 0 NA
5-131298371-C-G p.Ala572Pro missense+splice_region ACSL6 1 83004 1.20476E-5 41502 0 NA
5-131298372-C-CGGCAGCCATTTTCCGATGTCTCCAGTGTGAAGCCAGCCA c.1714-2_1714-1insTGGCTGGCTTCACACTGGAGACATCGGAAAATGGCTGCC splice_acceptor ACSL6 1 83016 1.20459E-5 41508 0 NA
5-131298372-C-CGGCAGCCATTTTCCGA c.1714-2_1714-1insTCGGAAAATGGCTGCC splice_acceptor ACSL6 1 83016 1.20459E-5 41508 0 NA
5-131298377-G-C c.1714-6C>G splice_region ACSL6 1 82938 1.20572E-5 41469 0 NA
5-131302108-C-T c.1713+1G>A splice_donor ACSL6 1 82900 1.20627E-5 41450 0 NA
5-131302110-G-A p.Pro571Leu missense+splice_region ACSL6 57 82904 6.87542E-4 41452 0 9.24391E-4
5-131302115-C-T p.Trp569* stop_gained ACSL6 1 82946 1.2056E-5 41473 0 NA
5-131302124-G-A p.Ile566Ile synonymous ACSL6 72 82998 8.67491E-4 41499 0 0.00207072
5-131302133-A-C p.Thr563Thr synonymous ACSL6 1 83032 1.20435E-5 41516 0 NA
5-131302150-C-T p.Asp558Asn missense ACSL6 1 83088 1.20354E-5 41544 0 8.23655E-6
5-131302151-G-A p.Ser557Ser synonymous ACSL6 1 83096 1.20343E-5 41548 0 5.03525E-4
5-131302169-C-T p.Thr551Thr synonymous ACSL6 2 83138 2.40564E-5 41569 0 3.29457E-5
5-131302170-G-A p.Thr551Met missense ACSL6 45 83136 5.41282E-4 41568 0 0.00156111
5-131302172-C-T p.Arg550Arg synonymous ACSL6 1 83148 1.20267E-5 41574 0 NA
5-131302182-T-A p.Asp547Val missense ACSL6 1 83138 1.20282E-5 41569 0 NA
5-131302189-A-G p.Leu545Leu synonymous ACSL6 1 83124 1.20302E-5 41562 0 3.9788E-6
5-131302191-T-C p.Tyr544Cys missense ACSL6 1 83112 1.2032E-5 41556 0 7.9576E-6
5-131302204-C-T p.Val540Met missense ACSL6 1 83060 1.20395E-5 41530 0 3.18552E-5
5-131302205-A-G p.Asn539Asn synonymous ACSL6 1 83060 1.20395E-5 41530 0 NA
5-131302214-T-C p.Arg536Arg synonymous ACSL6 1 83000 1.20482E-5 41500 0 NA
5-131302216-T-C p.Arg536Gly missense ACSL6 1 82982 1.20508E-5 41491 0 NA
5-131302227-T-TCTCCCTCTCCTTTGCAGGCCCAGTAGTTCAGTTCCTC c.1597-3_1597-2insGAGGAACTGAACTACTGGGCCTGCAAAGGAGAGGGAG splice_region ACSL6 2 82864 2.41359E-5 41432 1 NA
5-131302229-T-C c.1597-4A>G splice_region ACSL6 1 82820 1.20744E-5 41410 0 NA
5-131303643-C-G p.Gly529Ala missense ACSL6 1 83290 1.20062E-5 41645 0 NA
5-131303663-C-T p.Leu522Leu synonymous ACSL6 5 83282 6.0037E-5 41641 0 9.54851E-5
5-131303671-C-T p.Glu520Lys missense ACSL6 1 83270 1.20091E-5 41635 0 NA
5-131303680-C-T p.Val517Ile missense ACSL6 20 83236 2.40281E-4 41618 0 2.96531E-4
5-131303691-T-C p.His513Arg missense ACSL6 1 83196 1.20198E-5 41598 0 1.64739E-5
5-131303704-G-C p.Leu509Val missense ACSL6 1 83168 1.20239E-5 41584 0 3.98064E-6
5-131303708-C-G p.Ala507Ala synonymous ACSL6 1 83118 1.20311E-5 41559 0 NA
5-131303716-C-T p.Val505Ile missense ACSL6 7 83090 8.4246E-5 41545 0 1.27405E-4
5-131303717-G-A p.His504His synonymous ACSL6 1 83058 1.20398E-5 41529 0 1.99265E-5
5-131303723-T-TGAGGTCCAGTCGCCA c.1508-3_1508-2insTGGCGACTGGACCTC splice_region ACSL6 1 83044 1.20418E-5 41522 0 NA
5-131303724-G-GAGGTCCAGTCGCCAGGAGTGGTGAAGGTACATCCAGCTGT c.1508-4_1508-3insACAGCTGGATGTACCTTCACCACTCCTGGCGACTGGACCT splice_region ACSL6 4 83042 4.81684E-5 41521 2 NA
5-131303724-G-GAGGTCCAGTCGCCAGGAGTGGTGAAGGTACATCCAGCT c.1508-4_1508-3insAGCTGGATGTACCTTCACCACTCCTGGCGACTGGACCT splice_region ACSL6 1 83042 1.20421E-5 41521 0 NA
5-131303726-A-G c.1508-5T>C splice_region ACSL6 12 83004 1.44571E-4 41502 0 3.1841E-5
5-131305815-T-A c.1507+6A>T splice_region ACSL6 1 83216 1.20169E-5 41608 0 3.97817E-6
5-131305816-C-T c.1507+5G>A splice_region ACSL6 12 83232 1.44175E-4 41616 0 8.23791E-6
5-131305816-C-A c.1507+5G>T splice_region ACSL6 2 83232 2.40292E-5 41616 0 8.23791E-6
5-131305829-C-T p.Trp500* stop_gained ACSL6 1 83302 1.20045E-5 41651 0 NA
5-131305834-G-A p.Gly498Gly synonymous ACSL6 15 83308 1.80055E-4 41654 0 6.25E-4
5-131305835-C-T p.Gly498Asp missense ACSL6 2 83316 2.4005E-5 41658 1 NA
5-131305850-G-A p.Thr493Ile missense ACSL6 5 83332 6.0001E-5 41666 0 2.78405E-5
5-131305850-G-C p.Thr493Ser missense ACSL6 1 83332 1.20002E-5 41666 0 NA
5-131305880-T-C p.Tyr483Cys missense ACSL6 1 83326 1.20011E-5 41663 0 1.64753E-5
5-131305884-C-T p.Gly482Ser missense ACSL6 1 83324 1.20013E-5 41662 0 NA
5-131305895-T-TGGCACCCTAGAGCTGCCCGGAGAAATCCCAGAACTGTTGGTGA c.1435-3_1435-2insTCACCAACAGTTCTGGGATTTCTCCGGGCAGCTCTAGGGTGCC splice_region ACSL6 1 83270 1.20091E-5 41635 0 NA
5-131305895-T-TGGCACCCTAGAGCTGCCCGGAGAAATCCCAGAACTGTTGG c.1435-3_1435-2insCCAACAGTTCTGGGATTTCTCCGGGCAGCTCTAGGGTGCC splice_region ACSL6 1 83270 1.20091E-5 41635 0 NA
5-131307236-A-C c.1434+7T>G splice_region ACSL6 1 82530 1.21168E-5 41265 0 2.64431E-5
5-131307254-G-C p.Leu475Val missense ACSL6 1 83010 1.20467E-5 41505 0 2.17969E-5
5-131307259-G-A p.Ala473Val missense ACSL6 1 83028 1.20441E-5 41514 0 4.03379E-6
5-131307262-C-T p.Arg472Gln missense ACSL6 1 83032 1.20435E-5 41516 0 1.02728E-5
5-131307263-G-A p.Arg472Trp missense ACSL6 4 83046 4.81661E-5 41523 0 6.37064E-5
5-131307284-G-A p.Pro465Ser missense ACSL6 4 83150 4.81058E-5 41575 0 6.37064E-5
5-131307286-G-A p.Ser464Leu missense ACSL6 1 83174 1.2023E-5 41587 0 4.00606E-6
5-131307309-A-AGC p.Ile456fs frameshift ACSL6 2 83174 2.4046E-5 41587 0 NA
5-131307310-ATC-A p.Met455fs frameshift ACSL6 2 83180 2.40442E-5 41590 0 NA
5-131307316-C-T p.Arg454Gln missense ACSL6 1 83132 1.20291E-5 41566 0 NA
5-131307317-G-A p.Arg454Trp missense ACSL6 1 83128 1.20296E-5 41564 0 3.21812E-5
5-131307318-C-T p.Val453Val synonymous ACSL6 1 83128 1.20296E-5 41564 0 3.18634E-5
5-131307322-C-T p.Cys452Tyr missense ACSL6 1 83080 1.20366E-5 41540 0 NA
5-131307331-A-T p.Leu449His missense ACSL6 1 82950 1.20555E-5 41475 0 NA
5-131307336-G-A p.Ala447Ala splice_region+synonymous ACSL6 1 82832 1.20726E-5 41416 0 NA
5-131307337-G-A p.Ala447Val missense+splice_region ACSL6 1 82798 1.20776E-5 41399 0 NA
5-131308422-T-C p.Ile445Val missense ACSL6 2 83270 2.40183E-5 41635 0 4.37752E-5
5-131308430-A-C p.Phe442Cys missense ACSL6 2 83292 2.40119E-5 41646 0 4.11991E-5
5-131308437-G-A p.Leu440Phe missense ACSL6 1 83300 1.20048E-5 41650 0 NA
5-131308453-A-G p.Asp434Asp synonymous ACSL6 1 83316 1.20025E-5 41658 0 NA
5-131308470-C-G p.Gly429Arg missense ACSL6 2 83332 2.40004E-5 41666 0 NA
5-131308475-C-T p.Arg427Gln missense ACSL6 3 83320 3.60058E-5 41660 0 3.18471E-5
5-131308476-G-A p.Arg427Trp missense ACSL6 3 83320 3.60058E-5 41660 0 4.94218E-5
5-131308481-T-G p.Glu365Ala missense+splice_region ACSL6 4 83330 4.80019E-5 41665 0 6.36862E-5
5-131308482-C-T p.Glu365Lys missense+splice_region ACSL6 24 83328 2.88018E-4 41664 0 0.00116145
5-131308483-G-T p.Ala424Ala synonymous ACSL6 5 83330 6.00024E-5 41665 0 9.55901E-5
5-131308488-G-C p.Gln423Glu missense ACSL6 2 83332 2.40004E-5 41666 0 NA
5-131308508-T-C p.Glu416Gly missense ACSL6 1 83310 1.20034E-5 41655 0 3.97709E-6
5-131308511-A-T p.Leu415Gln missense ACSL6 1 83310 1.20034E-5 41655 0 NA
5-131308516-C-T p.Trp413* stop_gained ACSL6 1 83300 1.20048E-5 41650 0 NA
5-131308520-C-T p.Arg412His missense ACSL6 1 83268 1.20094E-5 41634 0 3.18471E-5
5-131308521-G-A p.Arg412Cys missense ACSL6 81 83270 9.72739E-4 41635 1 0.00210231
5-131308521-G-T p.Arg412Ser missense ACSL6 1 83270 1.20091E-5 41635 0 NA
5-131308528-T-G p.Pro409Pro synonymous ACSL6 3 83272 3.60265E-5 41636 0 9.55536E-5
5-131308553-T-TTGTCGTACATCCGGTTCAGCAGTCGTGGGACCACAGG c.1204-3_1204-2insCCTGTGGTCCCACGACTGCTGAACCGGATGTACGACA splice_region ACSL6 10 83142 1.20276E-4 41571 5 NA
5-131308559-A-G c.1204-8T>C splice_region ACSL6 1 83068 1.20383E-5 41534 0 NA
5-131308965-G-A p.Tyr399Tyr synonymous ACSL6 16 82338 1.94321E-4 41169 0 7.18506E-5
5-131308968-C-T p.Met398Ile missense ACSL6 1 82424 1.21324E-5 41212 0 NA
5-131308972-C-T p.Arg397Gln missense ACSL6 2 82478 2.42489E-5 41239 0 1.59575E-5
5-131309001-G-A p.Ile387Ile synonymous ACSL6 2 82790 2.41575E-5 41395 0 3.18431E-5
5-131309003-T-C p.Ile387Val missense ACSL6 2 82796 2.41558E-5 41398 0 8.27048E-6
5-131309007-G-A p.Pro385Pro synonymous ACSL6 9 82818 1.08672E-4 41409 0 1.27389E-4
5-131309013-T-C p.Leu383Leu synonymous ACSL6 1 82860 1.20685E-5 41430 0 6.37105E-5
5-131309029-T-G p.Asp378Ala missense ACSL6 1 82916 1.20604E-5 41458 0 NA
5-131309030-C-A p.Asp378Tyr missense ACSL6 1 82926 1.20589E-5 41463 0 NA
5-131309044-A-G p.Ile373Thr missense ACSL6 4 82934 4.82311E-5 41467 0 8.2813E-6
5-131309046-A-G p.Asp372Asp synonymous ACSL6 1 82944 1.20563E-5 41472 0 7.96419E-6
5-131309049-T-C p.Gly271Gly splice_region+synonymous ACSL6 1 82924 1.20592E-5 41462 0 1.99116E-5
5-131309057-A-AGAAGCCAACAC p.Phe369fs frameshift ACSL6 1 82892 1.20639E-5 41446 0 NA
5-131309069-G-A p.Arg365Cys missense ACSL6 4 82792 4.83138E-5 41396 0 1.24715E-4
5-131309073-T-C p.Gly363Gly synonymous ACSL6 1 82770 1.20817E-5 41385 0 3.18492E-5
5-131309076-G-A p.His362His synonymous ACSL6 1 82760 1.20831E-5 41380 0 2.79102E-5
5-131309079-G-A p.Cys361Cys synonymous ACSL6 1 82724 1.20884E-5 41362 0 8.34557E-6
5-131309087-C-T p.Val359Ile missense ACSL6 2 82638 2.42019E-5 41319 0 4.18957E-5
5-131309088-G-A p.Val358Val synonymous ACSL6 1 82606 1.21057E-5 41303 0 1.67791E-5
5-131310454-C-T p.Val355Val synonymous ACSL6 1 82020 1.21921E-5 41010 0 0.00101523
5-131310456-C-T p.Val355Met missense ACSL6 1 82052 1.21874E-5 41026 0 NA
5-131310461-C-T p.Arg353Gln missense ACSL6 2 82242 2.43185E-5 41121 0 2.41365E-5
5-131310461-C-A p.Arg353Leu missense ACSL6 2 82242 2.43185E-5 41121 0 NA
5-131310491-G-A p.Ser343Phe missense ACSL6 1 82834 1.20723E-5 41417 0 NA
5-131310506-G-A p.Ala338Val missense ACSL6 3 82900 3.61882E-5 41450 0 5.04032E-4
5-131310532-T-C c.991-4A>G splice_region ACSL6 1 83036 1.2043E-5 41518 0 3.63023E-5
5-131310605-A-G p.Met325Thr missense ACSL6 1 83272 1.20088E-5 41636 0 1.67165E-5
5-131310618-G-A p.Pro321Ser missense ACSL6 1 83272 1.20088E-5 41636 0 NA
5-131310622-G-C p.Phe319Leu missense ACSL6 1 83280 1.20077E-5 41640 0 NA
5-131310631-G-A p.Leu316Leu synonymous ACSL6 4 83254 4.80457E-5 41627 0 NA
5-131310636-C-T p.Val315Met missense ACSL6 1 83244 1.20129E-5 41622 0 3.98089E-6
5-131310640-G-A p.Asp313Asp synonymous ACSL6 3 83226 3.60464E-5 41613 0 5.57622E-5
5-131310666-G-T c.916-3C>A splice_region ACSL6 3 83152 3.60785E-5 41576 0 3.57967E-5
5-131310671-C-T c.916-8G>A splice_region ACSL6 111 83086 0.00133597 41543 0 0.00172061
5-131312338-C-T c.990+3G>A splice_region ACSL6 1 83106 1.20328E-5 41553 0 1.19299E-5
5-131312340-C-A c.990+1G>T splice_donor ACSL6 2 83104 2.40662E-5 41552 0 NA
5-131312363-G-A p.Ser323Leu missense ACSL6 1 83204 1.20187E-5 41602 0 NA
5-131312379-C-T p.Val318Met missense ACSL6 2 83206 2.40367E-5 41603 0 6.25E-4
5-131312386-A-G p.His315His synonymous ACSL6 1 83194 1.20201E-5 41597 0 3.97636E-6
5-131312398-C-T p.Ala311Ala synonymous ACSL6 7 83172 8.41629E-5 41586 0 5.56722E-5
5-131312399-G-A p.Ala311Val missense ACSL6 7 83172 8.41629E-5 41586 0 4.94845E-5
5-131321100-C-A p.Gly306Trp missense+splice_region ACSL6 1 82752 1.20843E-5 41376 0 NA
5-131321104-C-G p.Thr304Thr synonymous ACSL6 3 82754 3.6252E-5 41377 0 8.29889E-6
5-131321104-C-T p.Thr304Thr synonymous ACSL6 2 82754 2.4168E-5 41377 0 5.57569E-5
5-131321105-G-A p.Thr304Met missense ACSL6 1 82740 1.20861E-5 41370 0 1.65978E-5
5-131321110-G-A p.Ser302Ser synonymous ACSL6 3 82760 3.62494E-5 41380 0 3.18585E-5
5-131321112-T-G p.Ser302Arg missense ACSL6 1 82800 1.20773E-5 41400 0 NA
5-131321114-G-A p.Thr301Ile missense ACSL6 1 82792 1.20785E-5 41396 0 NA
5-131321146-C-T p.Pro290Pro synonymous ACSL6 4 82576 4.84402E-5 41288 0 1.16457E-4
5-131321151-G-T p.Pro289Thr missense+splice_region ACSL6 1 82544 1.21148E-5 41272 0 NA
5-131321151-G-A p.Pro289Ser missense+splice_region ACSL6 1 82546 1.21145E-5 41273 0 3.18532E-5
5-131321159-G-C c.865-8C>G splice_region ACSL6 12191 81954 0.148754 40977 1073 0.131631
5-131322508-C-T c.864+7G>A splice_region ACSL6 13 83348 1.55973E-4 41674 0 1.59297E-4
5-131322509-G-A c.864+6C>T splice_region ACSL6 3 83348 3.59937E-5 41674 0 3.18613E-5
5-131322521-A-G p.Ala286Ala synonymous ACSL6 67 83362 8.03724E-4 41681 1 0.00149691
5-131322530-A-T p.Asn283Lys missense ACSL6 1 83366 1.19953E-5 41683 0 NA
5-131322530-A-G p.Asn283Asn synonymous ACSL6 1 83366 1.19953E-5 41683 0 NA
5-131322546-T-A p.Asp278Val missense+splice_region ACSL6 11 83350 1.31974E-4 41675 0 6.37105E-5
5-131322554-G-A c.832-7C>T splice_region ACSL6 1 83310 1.20034E-5 41655 0 1.19345E-5
5-131323746-C-T p.Val276Met missense ACSL6 2 83102 2.40668E-5 41551 0 6.36983E-5
5-131323747-G-A p.Ala275Ala synonymous ACSL6 1 83102 1.20334E-5 41551 0 9.55779E-5
5-131323755-T-C p.Met273Val missense ACSL6 2 83166 2.40483E-5 41583 0 3.98172E-6
5-131323759-C-T p.Lys271Lys synonymous ACSL6 1 83172 1.20233E-5 41586 0 8.25273E-6
5-131323772-C-T p.Gly267Glu missense ACSL6 1 83182 1.20218E-5 41591 0 NA
5-131323774-G-A p.Cys266Cys synonymous ACSL6 2 83198 2.4039E-5 41599 0 2.47215E-5
5-131323789-C-T p.Glu261Glu synonymous ACSL6 223 83264 0.00267823 41632 1 0.00233446
5-131323806-C-T p.Glu256Lys missense ACSL6 1 83310 1.20034E-5 41655 0 NA
5-131323807-G-A p.Phe255Phe synonymous ACSL6 6 83326 7.20063E-5 41663 0 5.03525E-4
5-131323818-T-C p.Met252Val missense ACSL6 1 83350 1.19976E-5 41675 0 NA
5-131323822-G-T p.Ile250Ile synonymous ACSL6 1 83350 1.19976E-5 41675 0 5.03525E-4
5-131323841-G-A p.Pro244Leu missense ACSL6 1 83332 1.20002E-5 41666 0 3.18573E-5
5-131323861-A-G p.His237His synonymous ACSL6 1 83302 1.20045E-5 41651 0 8.23683E-6
5-131323862-T-C p.His237Arg missense ACSL6 1 83300 1.20048E-5 41650 0 3.18552E-5
5-131323905-C-T p.Val223Met missense ACSL6 4 83088 4.81417E-5 41544 0 6.37105E-5
5-131323905-C-A p.Val223Leu missense ACSL6 1 83088 1.20354E-5 41544 0 NA
5-131323906-G-A p.Thr222Thr synonymous ACSL6 6 83070 7.22282E-5 41535 0 3.18512E-5
5-131323912-G-T p.Ile220Ile synonymous ACSL6 1 82998 1.20485E-5 41499 0 NA
5-131323919-G-A p.Ala218Val missense+splice_region ACSL6 2 82826 2.4147E-5 41413 0 5.03525E-4
5-131323925-G-A c.653-6C>T splice_region ACSL6 28 82712 3.38524E-4 41356 0 6.25E-4
5-131324242-G-A c.622+7C>T splice_region ACSL6 1 79172 1.26307E-5 39586 0 5.96317E-6
5-131324249-C-T p.Ala208Thr missense+splice_region ACSL6 1 79418 1.25916E-5 39709 0 NA
5-131324250-C-CTG p.Gln207fs frameshift ACSL6 55208 79186 0.697194 39593 20461 0.708529
5-131324255-T-TGC p.Thr206fs frameshift ACSL6 2 79752 2.50777E-5 39876 0 NA
5-131324269-G-T p.Ser201Tyr missense ACSL6 722 80064 0.00901779 40032 14 0.00888875
5-131324270-A-G p.Ser201Pro missense ACSL6 1 80102 1.24841E-5 40051 0 4.12031E-6
5-131324273-C-G p.Ala200Pro missense ACSL6 99 80116 0.00123571 40058 1 0.00366382
5-131324278-T-G p.Glu198Ala missense ACSL6 1 80202 1.24685E-5 40101 0 NA
5-131324291-G-A p.Leu194Phe missense+splice_region ACSL6 3 80194 3.74093E-5 40097 0 3.18613E-5
5-131324499-T-C p.Thr217Thr splice_region+synonymous ACSL6 1 82898 1.2063E-5 41449 0 NA
5-131324515-C-T p.Arg212His missense ACSL6 1 82914 1.20607E-5 41457 0 3.1957E-5
5-131324516-G-A p.Arg212Cys missense ACSL6 3 82950 3.61664E-5 41475 0 9.57977E-5
5-131324519-T-C p.Ile211Val missense ACSL6 2 82972 2.41045E-5 41486 0 1.19381E-5
5-131324532-C-T p.Leu206Leu synonymous ACSL6 1 83016 1.20459E-5 41508 0 1.19345E-5
5-131324542-T-C p.Tyr203Cys missense ACSL6 1 83040 1.20424E-5 41520 0 NA
5-131324547-C-T p.Pro201Pro synonymous ACSL6 12 82990 1.44596E-4 41495 0 6.25E-4
5-131324548-G-A p.Pro201Leu missense ACSL6 1 83026 1.20444E-5 41513 0 1.19355E-5
5-131324552-C-T p.Val200Ile missense ACSL6 2 83022 2.409E-5 41511 0 3.19734E-5
5-131324562-G-A p.Ser196Ser synonymous ACSL6 11 83044 1.3246E-4 41522 1 6.25E-4
5-131324586-C-G p.Val188Val synonymous ACSL6 1 82912 1.2061E-5 41456 0 3.2002E-5
5-131325096-T-C c.552+4A>G splice_region ACSL6 5 83334 5.99995E-5 41667 0 8.25137E-6
5-131325127-A-C p.Ile175Met missense ACSL6 3 83370 3.59842E-5 41685 0 7.15848E-5
5-131325129-T-A p.Ile175Phe missense ACSL6 27 83374 3.23842E-4 41687 0 0.0025
5-131325138-C-T p.Asp172Asn missense ACSL6 27 83356 3.23912E-4 41678 0 4.78316E-4
5-131325141-T-C p.Thr171Ala missense ACSL6 4 83342 4.7995E-5 41671 0 1.64756E-5
5-131325145-T-C p.Ala144Ala splice_region+synonymous ACSL6 1 83350 1.19976E-5 41675 0 1.59061E-5
5-131325157-G-T p.His165Gln missense ACSL6 1 83338 1.19993E-5 41669 0 NA
5-131325163-G-A p.Leu163Leu synonymous ACSL6 1 83330 1.20005E-5 41665 0 NA
5-131325196-G-A p.Ala152Ala synonymous ACSL6 33 83302 3.96149E-4 41651 0 0.001875
5-131325198-C-T p.Ala152Thr missense ACSL6 1 83310 1.20034E-5 41655 0 1.19328E-5
5-131325201-C-T p.Val151Met missense+splice_region ACSL6 62 83296 7.44333E-4 41648 2 0.00102223
5-131325798-G-T p.Gln149Lys missense ACSL6 1 83048 1.20412E-5 41524 0 5.91726E-5
5-131325799-G-A p.Tyr148Tyr synonymous ACSL6 1 83050 1.20409E-5 41525 0 8.4468E-6
5-131325824-T-C p.Lys140Arg missense ACSL6 1 83132 1.20291E-5 41566 0 NA
5-131325832-C-T p.Arg137Arg synonymous ACSL6 2 83146 2.40541E-5 41573 0 8.32251E-6
5-131325847-G-C p.Pro132Pro synonymous ACSL6 2 83126 2.40599E-5 41563 0 3.18552E-5
5-131325850-C-T p.Gly131Gly synonymous ACSL6 1 83112 1.2032E-5 41556 0 5.82024E-5
5-131325856-C-G p.Gly129Gly splice_region+synonymous ACSL6 5 83100 6.01685E-5 41550 0 1.27429E-4
5-131325865-G-A c.386-8C>T splice_region ACSL6 1 83066 1.20386E-5 41533 0 1.19492E-5
5-131326541-C-G c.385+5G>C splice_region ACSL6 4 83082 4.81452E-5 41541 0 3.29739E-5
5-131326554-C-T p.Ser126Asn missense ACSL6 2 83206 2.40367E-5 41603 0 2.47247E-5
5-131326563-C-T p.Arg123His missense ACSL6 3 83250 3.6036E-5 41625 0 3.19163E-5
5-131326567-G-A p.Arg122Cys missense ACSL6 1 83254 1.20114E-5 41627 0 4.94405E-5
5-131326581-A-C p.Met1? start_lost ACSL6 1 83294 1.20057E-5 41647 0 3.19122E-5
5-131326588-G-A p.Arg115Trp missense ACSL6 2 83294 2.40113E-5 41647 0 2.47219E-5
5-131326599-T-C p.Tyr111Cys missense ACSL6 1 83286 1.20068E-5 41643 0 NA
5-131326614-A-C p.Leu106Arg missense ACSL6 2 83216 2.40338E-5 41608 0 NA
5-131326620-G-A p.Pro104Leu missense ACSL6 2 83182 2.40437E-5 41591 0 8.2481E-6
5-131326628-C-A p.Gly101Gly synonymous ACSL6 14 83100 1.68472E-4 41550 0 3.50765E-4
5-131326636-C-T p.Val99Met missense ACSL6 2 82936 2.4115E-5 41468 0 6.25E-4
5-131326641-C-T p.Arg97Gln missense ACSL6 2 82584 2.42178E-5 41292 0 8.7292E-6
5-131326642-G-A p.Arg97* stop_gained ACSL6 1 82334 1.21457E-5 41167 0 8.16247E-6
5-131326644-C-T p.Arg96Gln missense ACSL6 2 82192 2.43333E-5 41096 0 NA
5-131326644-C-G p.Arg96Pro missense ACSL6 1 82192 1.21666E-5 41096 0 NA
5-131326645-G-A p.Arg96Trp missense ACSL6 6 82216 7.29785E-5 41108 0 2.24945E-4
5-131326648-C-T p.Ala95Thr missense ACSL6 1 82966 1.20531E-5 41483 0 NA
5-131326651-C-T p.Gly94Arg missense ACSL6 3 83092 3.61046E-5 41546 0 3.18532E-5
5-131326652-G-A p.Gly93Gly synonymous ACSL6 1 83062 1.20392E-5 41531 0 3.18593E-5
5-131329751-G-A p.Asn81Asn synonymous ACSL6 1 83094 1.20346E-5 41547 0 NA
5-131329752-T-G p.Asn81Thr missense ACSL6 1 83076 1.20372E-5 41538 0 NA
5-131329760-C-T p.Pro78Pro synonymous ACSL6 306 83078 0.00368329 41539 3 0.00705645
5-131329762-G-C p.Pro78Ala missense ACSL6 1 83104 1.20331E-5 41552 0 NA
5-131329770-G-T p.Ala75Asp missense ACSL6 2 83102 2.40668E-5 41551 0 NA
5-131329774-T-C p.Lys74Glu missense ACSL6 1 83118 1.20311E-5 41559 0 NA
5-131329781-G-A p.His71His synonymous ACSL6 1 83120 1.20308E-5 41560 0 NA
5-131329787-G-T p.Phe69Leu missense ACSL6 1 83140 1.20279E-5 41570 0 NA
5-131329802-G-T p.Ile64Ile synonymous ACSL6 1 83144 1.20273E-5 41572 0 2.47578E-5
5-131329814-G-C p.Ala60Ala synonymous ACSL6 1 83134 1.20288E-5 41567 0 NA
5-131329821-A-G p.Met58Thr missense ACSL6 1 83130 1.20294E-5 41565 0 NA
5-131329822-T-C p.Met58Val missense ACSL6 3 83130 3.60881E-5 41565 0 1.07339E-4
5-131329823-A-T p.Ser57Arg missense ACSL6 1 83134 1.20288E-5 41567 0 NA
5-131329826-C-G c.90+3G>C splice_region ACSL6 3 83148 3.60802E-5 41574 0 1.19346E-5
5-131329828-C-T c.90+1G>A splice_donor ACSL6 2 83148 2.40535E-5 41574 0 5.78168E-5
5-131329829-G-A c.-184C>T 5_prime_UTR_premature_start_codon_gain ACSL6 1 83160 1.2025E-5 41580 0 NA
5-131329835-G-C p.Thr53Thr synonymous ACSL6 2 83162 2.40494E-5 41581 0 5.03525E-4
5-131329837-T-C p.Thr53Ala missense ACSL6 1 83162 1.20247E-5 41581 0 8.27198E-6
5-131329841-C-T p.Ser51Ser synonymous ACSL6 177 83148 0.00212873 41574 3 0.00474613
5-131329852-G-A p.Arg48Cys missense ACSL6 4 83164 4.80977E-5 41582 0 9.55597E-5
5-131329865-CA-C p.Leu43fs frameshift ACSL6 1 83154 1.20259E-5 41577 0 NA
5-131329880-A-G p.Pro38Pro synonymous ACSL6 2 83108 2.40651E-5 41554 0 8.53082E-6
5-131329885-G-A c.-240C>T 5_prime_UTR_premature_start_codon_gain ACSL6 11 83094 1.3238E-4 41547 0 1.2738E-4
5-131329887-C-T p.Arg36Gln missense ACSL6 2 83090 2.40703E-5 41545 0 6.36902E-5
5-131329892-T-G p.Ile34Ile synonymous ACSL6 1 83090 1.20351E-5 41545 0 3.98229E-6
5-131329902-A-G p.Ile31Thr missense ACSL6 2 83046 2.4083E-5 41523 0 NA
5-131329935-A-AGCATGTACTCAG p.Val19_Leu20insProGluTyrMet conservative_inframe_insertion ACSL6 1 82702 1.20916E-5 41351 0 NA
5-131329942-ACT-A p.Glu17fs frameshift ACSL6 1 82566 1.21115E-5 41283 0 1.34993E-5
5-131329943-C-T p.Glu17Glu splice_region+synonymous ACSL6 5 82546 6.05723E-5 41273 0 0.00125
5-131329966-T-C c.-48A>G 5_prime_UTR_premature_start_codon_gain ACSL6 1 81902 1.22097E-5 40951 0 1.86867E-5
5-131329984-G-A c.-66C>T 5_prime_UTR_premature_start_codon_gain ACSL6 1 80630 1.24023E-5 40315 0 5.80518E-5
5-131330080-C-T c.-162G>A 5_prime_UTR_premature_start_codon_gain ACSL6 1 56578 1.76747E-5 28289 0 NA
5-131330100-G-C c.-182C>G 5_prime_UTR_premature_start_codon_gain ACSL6 5 47176 1.05986E-4 23588 0 3.18532E-5
5-131330145-C-A c.-227G>T 5_prime_UTR_premature_start_codon_gain ACSL6 1 24580 4.06835E-5 12290 0 NA
5-131330213-G-A c.-95C>T 5_prime_UTR_premature_start_codon_gain ACSL6 1 9340 1.07066E-4 4670 0 NA
5-131347201-C-T p.Val16Ile missense ACSL6 1 78374 1.27593E-5 39187 0 NA
5-131347217-G-GC p.Ser11fs frameshift ACSL6 1 78108 1.28028E-5 39054 0 4.23169E-6
5-131347218-C-A p.Gly10Val missense ACSL6 2 78132 2.55977E-5 39066 0 NA
5-131347218-C-G p.Gly10Ala missense ACSL6 1 78132 1.27989E-5 39066 0 NA
5-131347223-C-A c.-52G>T 5_prime_UTR_premature_start_codon_gain ACSL6 1 78144 1.27969E-5 39072 0 4.25561E-6
5-131347229-G-A c.-58C>T 5_prime_UTR_premature_start_codon_gain ACSL6 2 78028 2.56318E-5 39014 0 9.32488E-6
5-131347233-A-AAG p.Phe5fs frameshift ACSL6 1 77948 1.28291E-5 38974 0 NA
5-131347234-A-G p.Phe5Leu missense ACSL6 1 77944 1.28297E-5 38972 0 1.87942E-5
5-131347238-G-A p.Thr3Thr synonymous ACSL6 37 77866 4.75175E-4 38933 0 0.00104275
5-131347273-C-A c.-27G>T 5_prime_UTR_premature_start_codon_gain ACSL6 2 74998 2.66674E-5 37499 0 NA
5-131347287-C-A c.-41G>T 5_prime_UTR_premature_start_codon_gain ACSL6 2 73108 2.73568E-5 36554 0 NA
5-131347288-G-A c.-42C>T 5_prime_UTR_premature_start_codon_gain ACSL6 1 72852 1.37265E-5 36426 0 1.6154E-5
5-131347320-G-A c.-74C>T 5_prime_UTR_premature_start_codon_gain ACSL6 3 67792 4.4253E-5 33896 0 NA
5-131347461-A-T c.-27+2T>A splice_donor ACSL6 1 46680 2.14225E-5 23340 0 NA
5-131347464-C-T c.-28G>A splice_region ACSL6 3 47730 6.28535E-5 23865 0 3.19264E-5
5-131347465-C-T c.-29G>A splice_region ACSL6 4 47682 8.38891E-5 23841 0 6.99301E-4
5-131347516-C-T c.-29G>A splice_region ACSL6 1 50676 1.97332E-5 25338 0 NA
5-131347524-G-C c.-37C>G 5_prime_UTR_premature_start_codon_gain ACSL6 1 51938 1.92537E-5 25969 0 NA
5-131347540-G-A c.-53C>T 5_prime_UTR_premature_start_codon_gain ACSL6 7 53714 1.3032E-4 26857 0 6.39509E-5
5-131347556-C-A c.-69G>T 5_prime_UTR_premature_start_codon_gain ACSL6 1 57534 1.7381E-5 28767 0 NA
5-131347603-G-A c.7+4C>T splice_region ACSL6 36 70228 5.12616E-4 35114 0 6.69301E-4
5-131347604-T-C c.7+3A>G splice_region ACSL6 1 70314 1.42219E-5 35157 0 NA
5-131347626-G-A c.-13C>T 5_prime_UTR_premature_start_codon_gain ACSL6 1 71824 1.39229E-5 35912 0 1.28459E-5
5-131347643-C-G c.-30G>C 5_prime_UTR_premature_start_codon_gain ACSL6 1 71798 1.3928E-5 35899 0 NA
5-131347651-G-A c.-38C>T 5_prime_UTR_premature_start_codon_gain ACSL6 1 71646 1.39575E-5 35823 0 7.48694E-6
5-131347758-G-A c.-145C>T 5_prime_UTR_premature_start_codon_gain ACSL6 6 47918 1.25214E-4 23959 0 4.14964E-4
5-131347766-G-A c.-153C>T 5_prime_UTR_premature_start_codon_gain ACSL6 1 45114 2.21661E-5 22557 0 NA
5-131347775-C-G c.-27+7G>C splice_region ACSL6 1 41636 2.40177E-5 20818 0 NA
5-131347783-T-A c.-28A>T 5_prime_UTR_premature_start_codon_gain ACSL6 5 39946 1.25169E-4 19973 0 3.19061E-5
5-131347830-A-G c.-75T>C 5_prime_UTR_premature_start_codon_gain ACSL6 11 23520 4.67687E-4 11760 0 3.82531E-4