Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
14-74083709-C-T c.-170C>T 5_prime_UTR_premature_start_codon_gain ACOT6 1 69212 1.44484E-5 34606 0 NA
14-74083773-C-T c.-106C>T 5_prime_UTR_premature_start_codon_gain ACOT6 2 79250 2.52366E-5 39625 0 NA
14-74083827-C-T c.-52C>T 5_prime_UTR_premature_start_codon_gain ACOT6 1 82654 1.20986E-5 41327 0 6.37349E-5
14-74083869-C-T c.-10C>T 5_prime_UTR_premature_start_codon_gain ACOT6 1 83066 1.20386E-5 41533 0 1.64731E-5
14-74083885-C-T p.Gln3* stop_gained ACOT6 4 83012 4.81858E-5 41506 0 8.23655E-6
14-74083898-T-A c.18+2T>A splice_donor ACOT6 2 82960 2.4108E-5 41480 0 NA
14-74083899-G-A c.18+3G>A splice_region ACOT6 13 82946 1.56728E-4 41473 1 2.86734E-4
14-74083900-C-T c.18+4C>T splice_region ACOT6 98 82938 0.00118161 41469 0 0.00251608
14-74083901-G-A c.18+5G>A splice_region ACOT6 8434 82682 0.102005 41341 584 0.115931
14-74085930-C-T c.19-8C>T splice_region ACOT6 1 82804 1.20767E-5 41402 0 3.19366E-5
14-74085939-T-A p.Val7Glu missense+splice_region ACOT6 8 82944 9.64506E-5 41472 0 0.00125
14-74085945-G-A p.Gly9Asp missense ACOT6 5 83008 6.02352E-5 41504 0 4.45752E-5
14-74085950-A-G p.Ser11Gly missense ACOT6 17 83054 2.04686E-4 41527 0 6.25E-4
14-74085956-G-T p.Ala13Ser missense ACOT6 1 83098 1.2034E-5 41549 0 3.52206E-5
14-74085957-C-T p.Ala13Val missense ACOT6 79 83088 9.50799E-4 41544 0 0.0026118
14-74085958-G-A p.Ala13Ala synonymous ACOT6 2 83116 2.40628E-5 41558 0 6.37024E-5
14-74085967-AT-A p.Ser18fs frameshift ACOT6 1 83168 1.20239E-5 41584 0 NA
14-74085973-C-T p.Ser18Ser synonymous ACOT6 1 83170 1.20236E-5 41585 0 3.18512E-5
14-74085981-G-T p.Gly21Val missense ACOT6 18 83186 2.16383E-4 41593 0 0.00151057
14-74085981-G-A p.Gly21Asp missense ACOT6 1 83186 1.20213E-5 41593 0 8.48579E-6
14-74085986-C-T p.Leu23Leu synonymous ACOT6 3 83212 3.60525E-5 41606 0 1.21653E-5
14-74086021-C-T p.Ile34Ile synonymous ACOT6 1 83252 1.20117E-5 41626 0 NA
14-74086038-T-C p.Ile40Thr missense ACOT6 2 83250 2.4024E-5 41625 0 6.36943E-5
14-74086050-T-C p.Val44Ala missense ACOT6 1 83270 1.20091E-5 41635 0 3.97712E-6
14-74086056-A-G p.Asn46Ser missense ACOT6 4 83272 4.80354E-5 41636 0 3.29587E-5
14-74086074-A-G p.His52Arg missense ACOT6 114 83270 0.00136904 41635 0 0.00130573
14-74086077-A-G p.Tyr53Cys missense ACOT6 1 83264 1.201E-5 41632 0 3.1841E-5
14-74086084-T-A p.Asp55Glu missense ACOT6 1 83272 1.20088E-5 41636 0 NA
14-74086085-A-G p.Met56Val missense ACOT6 3 83266 3.60291E-5 41633 0 NA
14-74086097-A-G p.Lys60Glu missense ACOT6 1 83270 1.20091E-5 41635 0 NA
14-74086099-A-G p.Lys60Lys synonymous ACOT6 1 83272 1.20088E-5 41636 0 NA
14-74086100-C-G p.Leu61Val missense ACOT6 1 83276 1.20083E-5 41638 0 3.29522E-5
14-74086101-T-C p.Leu61Pro missense ACOT6 1 83274 1.20085E-5 41637 0 NA
14-74086102-T-G p.Leu61Leu synonymous ACOT6 30 83284 3.60213E-4 41642 0 2.98303E-4
14-74086105-C-T p.Val62Val synonymous ACOT6 4 83288 4.80261E-5 41644 0 7.95539E-6
14-74086106-G-A p.Asp63Asn missense ACOT6 1 83282 1.20074E-5 41641 0 3.18492E-5
14-74086109-G-C p.Asp64His missense ACOT6 3 83274 3.60256E-5 41637 0 0.00100705
14-74086112-C-G p.Leu65Val missense ACOT6 2 83266 2.40194E-5 41633 0 1.64766E-5
14-74086127-A-G p.Ile70Val missense ACOT6 550 83268 0.00660518 41634 8 0.0140764
14-74086132-TAA-T p.Lys72fs frameshift ACOT6 1 83266 1.20097E-5 41633 0 6.36902E-5
14-74086140-G-A p.Gly74Glu missense ACOT6 4 83270 4.80365E-5 41635 0 3.18431E-5
14-74086140-G-T p.Gly74Val missense ACOT6 3 83270 3.60274E-5 41635 0 6.76127E-5
14-74086149-CT-C p.Phe78fs frameshift ACOT6 3 83276 3.60248E-5 41638 0 1.91071E-4
14-74086175-C-G p.Leu86Val missense ACOT6 1 83202 1.20189E-5 41601 0 NA
14-74086194-A-G p.Gln92Arg missense ACOT6 1 83172 1.20233E-5 41586 0 NA
14-74086212-A-G p.Glu98Gly missense ACOT6 1 83154 1.20259E-5 41577 0 8.24756E-6
14-74086219-G-A p.Ala100Ala synonymous ACOT6 3 83134 3.60863E-5 41567 0 9.94732E-5
14-74086228-C-T p.Pro103Pro synonymous ACOT6 4 83132 4.81162E-5 41566 0 NA
14-74086256-CA-C p.Ser114fs frameshift ACOT6 6 83154 7.21553E-5 41577 0 5.03525E-4
14-74086281-C-G p.Ala121Gly missense ACOT6 12 83196 1.44238E-4 41598 0 0.00125
14-74086283-CAGAT-C p.Ile123fs frameshift ACOT6 2 83198 2.4039E-5 41599 0 NA
14-74086287-T-C p.Ile123Thr missense ACOT6 1 83206 1.20184E-5 41603 0 NA
14-74086303-A-G p.Leu128Leu synonymous ACOT6 5 83214 6.0086E-5 41607 0 6.36983E-5
14-74086315-G-A p.Gly132Gly synonymous ACOT6 20 83232 2.40292E-4 41616 0 0.00625
14-74086367-C-T p.Pro150Ser missense ACOT6 3 83222 3.60482E-5 41611 0 0.00100705
14-74086369-A-T p.Pro150Pro synonymous ACOT6 1 83216 1.20169E-5 41608 0 3.29625E-5
14-74086390-A-G p.Arg157Arg synonymous ACOT6 1 83192 1.20204E-5 41596 0 3.97791E-6
14-74086402-C-T p.His161His synonymous ACOT6 25 83168 3.00596E-4 41584 0 2.78467E-4
14-74086413-G-T p.Gly165Val missense ACOT6 1 83128 1.20296E-5 41564 0 NA
14-74086415-G-A p.Glu166Lys missense ACOT6 5091 83016 0.0613255 41508 214 0.056956
14-74086420-A-G p.Ala167Ala synonymous ACOT6 2 83128 2.40593E-5 41564 0 NA
14-74086426-C-T p.Phe169Phe synonymous ACOT6 2 83128 2.40593E-5 41564 0 NA
14-74086428-A-G p.Tyr170Cys missense ACOT6 7 83114 8.42217E-5 41557 0 0.00125
14-74086429-T-C p.Tyr170Tyr synonymous ACOT6 1 83102 1.20334E-5 41551 0 8.26173E-6
14-74086436-G-C p.Glu173Gln missense ACOT6 1 83056 1.20401E-5 41528 0 NA
14-74086438-G-A p.Glu173Glu synonymous ACOT6 1 83030 1.20438E-5 41515 0 3.99457E-6
14-74086445-G-C p.Ala176Pro missense ACOT6 1 83030 1.20438E-5 41515 0 1.20029E-5
14-74086448-C-CA p.His177fs frameshift ACOT6 3 83068 3.6115E-5 41534 1 NA
14-74086448-C-A p.His177Asn missense ACOT6 2 83068 2.40767E-5 41534 0 NA
14-74086451-T-C p.Ser178Pro missense ACOT6 1 83104 1.20331E-5 41552 0 NA
14-74086463-G-A p.Val182Ile missense ACOT6 1 83098 1.2034E-5 41549 0 8.28171E-6
14-74086467-A-ATGCCTGGCATCTATT p.Trp185_Gln186insHisLeuPheAlaTrp disruptive_inframe_insertion ACOT6 2 83096 2.40685E-5 41548 0 1.59337E-4
14-74086470-C-T p.Ala184Val missense ACOT6 1 83094 1.20346E-5 41547 0 NA
14-74086490-T-G p.Phe191Val missense ACOT6 1 83096 1.20343E-5 41548 0 8.34571E-6
14-74086498-T-C p.His193His synonymous ACOT6 2 83084 2.4072E-5 41542 0 3.18776E-5