3-58490864-C-G
|
c.*87G>C |
splice_region |
ACOX2 |
1 |
78440 |
1.27486E-5 |
39220 |
0 |
NA |
3-58490953-A-G
|
p.Ter682Argext*? |
stop_lost |
ACOX2 |
1 |
80806 |
1.23753E-5 |
40403 |
0 |
3.98924E-6 |
3-58490986-T-C
|
p.Arg671Gly |
missense |
ACOX2 |
1 |
80790 |
1.23778E-5 |
40395 |
0 |
8.23954E-6 |
3-58490992-A-G
|
p.Tyr669His |
missense |
ACOX2 |
1 |
80770 |
1.23808E-5 |
40385 |
0 |
NA |
3-58490993-T-A
|
p.Glu668Asp |
missense |
ACOX2 |
2 |
80760 |
2.47647E-5 |
40380 |
0 |
1.64788E-5 |
3-58491010-TCTC-T
|
p.Glu662del |
conservative_inframe_deletion |
ACOX2 |
2 |
80716 |
2.47782E-5 |
40358 |
0 |
6.36821E-5 |
3-58491011-C-T
|
p.Glu662Glu |
splice_region+synonymous |
ACOX2 |
1 |
80726 |
1.23876E-5 |
40363 |
0 |
NA |
3-58491013-C-A
|
p.Glu662* |
stop_gained |
ACOX2 |
1 |
80710 |
1.239E-5 |
40355 |
0 |
NA |
3-58491017-T-G
|
c.1984-4A>C |
splice_region |
ACOX2 |
1 |
80724 |
1.23879E-5 |
40362 |
0 |
2.01275E-5 |
3-58494612-T-C
|
c.1983+8A>G |
splice_region |
ACOX2 |
1 |
80962 |
1.23515E-5 |
40481 |
0 |
3.1835E-5 |
3-58494613-C-T
|
c.1983+7G>A |
splice_region |
ACOX2 |
6 |
80966 |
7.41052E-5 |
40483 |
1 |
1.51232E-4 |
3-58494613-C-G
|
c.1983+7G>C |
splice_region |
ACOX2 |
1 |
80966 |
1.23509E-5 |
40483 |
0 |
7.16361E-5 |
3-58494620-C-G
|
p.Gln661His |
missense+splice_region |
ACOX2 |
1 |
80986 |
1.23478E-5 |
40493 |
0 |
NA |
3-58494626-A-G
|
p.Asn659Asn |
synonymous |
ACOX2 |
1 |
80998 |
1.2346E-5 |
40499 |
0 |
NA |
3-58494641-C-T
|
p.Gln654Gln |
synonymous |
ACOX2 |
1 |
81014 |
1.23435E-5 |
40507 |
0 |
3.1839E-5 |
3-58494643-G-A
|
p.Gln654* |
stop_gained |
ACOX2 |
1 |
81010 |
1.23442E-5 |
40505 |
0 |
1.59096E-5 |
3-58494660-C-T
|
p.Arg648His |
missense |
ACOX2 |
2 |
81010 |
2.46883E-5 |
40505 |
0 |
1.98867E-5 |
3-58494664-C-T
|
p.Glu647Lys |
missense |
ACOX2 |
6 |
81012 |
7.40631E-5 |
40506 |
0 |
6.76127E-5 |
3-58494665-G-A
|
p.Tyr646Tyr |
synonymous |
ACOX2 |
7 |
81006 |
8.64134E-5 |
40503 |
0 |
4.11875E-5 |
3-58494675-C-T
|
p.Gly643Glu |
missense |
ACOX2 |
1 |
81010 |
1.23442E-5 |
40505 |
0 |
8.23737E-6 |
3-58494680-A-G
|
p.Tyr641Tyr |
synonymous |
ACOX2 |
11 |
81008 |
1.35789E-4 |
40504 |
0 |
1.90891E-4 |
3-58494682-A-G
|
p.Tyr641His |
missense |
ACOX2 |
3 |
81012 |
3.70316E-5 |
40506 |
0 |
6.3674E-5 |
3-58494690-A-C
|
p.Leu638Arg |
missense |
ACOX2 |
3 |
81010 |
3.70325E-5 |
40505 |
0 |
1.5908E-5 |
3-58494712-C-G
|
p.Asp631His |
missense |
ACOX2 |
1 |
80974 |
1.23496E-5 |
40487 |
0 |
7.95507E-6 |
3-58494713-G-A
|
p.Thr630Thr |
synonymous |
ACOX2 |
1 |
80974 |
1.23496E-5 |
40487 |
0 |
2.47117E-5 |
3-58494738-AG-A
|
p.Leu622fs |
frameshift |
ACOX2 |
1 |
80930 |
1.23564E-5 |
40465 |
0 |
NA |
3-58494740-G-A
|
p.Pro91Ser |
missense |
ACOX2 |
1 |
80936 |
1.23554E-5 |
40468 |
0 |
NA |
3-58494742-T-C
|
p.Ile621Val |
missense |
ACOX2 |
1 |
80932 |
1.23561E-5 |
40466 |
0 |
NA |
3-58494748-C-A
|
p.Asp619Tyr |
missense |
ACOX2 |
5 |
80920 |
6.17894E-5 |
40460 |
0 |
NA |
3-58496709-C-A
|
p.Glu85Asp |
missense |
ACOX2 |
1 |
51956 |
1.92471E-5 |
25978 |
0 |
NA |
3-58496738-C-T
|
p.Val76Met |
missense |
ACOX2 |
1 |
51980 |
1.92382E-5 |
25990 |
0 |
7.43196E-6 |
3-58496743-C-T
|
p.Gly74Glu |
missense |
ACOX2 |
1 |
51978 |
1.92389E-5 |
25989 |
0 |
NA |
3-58496750-C-T
|
p.Glu72Lys |
missense |
ACOX2 |
6 |
51978 |
1.15433E-4 |
25989 |
0 |
1.2747E-4 |
3-58496756-C-T
|
p.Ala70Thr |
missense |
ACOX2 |
1 |
51986 |
1.92359E-5 |
25993 |
0 |
6.3743E-5 |
3-58496771-A-G
|
p.Cys65Arg |
missense |
ACOX2 |
1 |
52136 |
1.91806E-5 |
26068 |
0 |
8.10898E-5 |
3-58502933-C-T
|
p.Arg617Gln |
missense+splice_region |
ACOX2 |
4 |
80784 |
4.95148E-5 |
40392 |
0 |
5.04032E-4 |
3-58502934-G-A
|
p.Arg617Trp |
missense+splice_region |
ACOX2 |
4 |
80814 |
4.94964E-5 |
40407 |
0 |
9.55597E-5 |
3-58502943-G-A
|
p.Arg614Cys |
missense |
ACOX2 |
7 |
80890 |
8.65373E-5 |
40445 |
0 |
5.88741E-4 |
3-58502962-T-C
|
p.Thr607Thr |
synonymous |
ACOX2 |
1 |
80972 |
1.23499E-5 |
40486 |
0 |
3.18152E-5 |
3-58502963-G-C
|
p.Thr607Arg |
missense |
ACOX2 |
3 |
80976 |
3.7048E-5 |
40488 |
0 |
6.37227E-5 |
3-58502976-C-T
|
p.Asp603Asn |
missense |
ACOX2 |
1 |
80994 |
1.23466E-5 |
40497 |
0 |
NA |
3-58502999-G-C
|
p.Ala595Gly |
missense |
ACOX2 |
3 |
81038 |
3.70197E-5 |
40519 |
0 |
3.18532E-5 |
3-58503000-C-A
|
p.Ala595Ser |
missense |
ACOX2 |
1 |
81036 |
1.23402E-5 |
40518 |
0 |
NA |
3-58503001-G-A
|
p.Asp594Asp |
synonymous |
ACOX2 |
7 |
81034 |
8.63835E-5 |
40517 |
0 |
1.59317E-4 |
3-58503004-A-T
|
p.His593Gln |
missense |
ACOX2 |
2 |
81040 |
2.46792E-5 |
40520 |
0 |
NA |
3-58503005-T-C
|
p.His593Arg |
missense |
ACOX2 |
3 |
81038 |
3.70197E-5 |
40519 |
0 |
3.18654E-5 |
3-58503019-C-T
|
p.Ser588Ser |
synonymous |
ACOX2 |
28 |
81036 |
3.45525E-4 |
40518 |
0 |
3.18613E-4 |
3-58503022-G-C
|
p.Asn587Lys |
missense |
ACOX2 |
1 |
81040 |
1.23396E-5 |
40520 |
0 |
1.98826E-5 |
3-58503039-G-A
|
p.His582Tyr |
missense |
ACOX2 |
2 |
81044 |
2.4678E-5 |
40522 |
0 |
NA |
3-58503050-A-G
|
p.Leu578Pro |
missense |
ACOX2 |
1 |
81036 |
1.23402E-5 |
40518 |
0 |
NA |
3-58503062-C-T
|
p.Arg574His |
missense |
ACOX2 |
2 |
81034 |
2.4681E-5 |
40517 |
0 |
3.18492E-5 |
3-58503063-G-A
|
p.Arg574Cys |
missense |
ACOX2 |
44 |
81032 |
5.42995E-4 |
40516 |
0 |
7.0086E-4 |
3-58503075-G-A
|
p.Gln570* |
stop_gained |
ACOX2 |
2 |
81044 |
2.4678E-5 |
40522 |
0 |
NA |
3-58503081-TC-T
|
p.Ile568fs |
frameshift |
ACOX2 |
1 |
81040 |
1.23396E-5 |
40520 |
0 |
NA |
3-58503082-C-T
|
p.Ala567Ala |
synonymous |
ACOX2 |
1 |
81042 |
1.23393E-5 |
40521 |
0 |
3.18532E-5 |
3-58503083-G-A
|
p.Ala567Val |
missense |
ACOX2 |
3 |
81036 |
3.70206E-5 |
40518 |
0 |
1.19302E-5 |
3-58503083-G-GAAC
|
p.Ala567delinsGlySer |
conservative_inframe_insertion |
ACOX2 |
1 |
81036 |
1.23402E-5 |
40518 |
0 |
NA |
3-58503090-C-G
|
p.Glu565Gln |
missense |
ACOX2 |
12 |
81042 |
1.48071E-4 |
40521 |
0 |
3.62414E-4 |
3-58503105-C-G
|
p.Glu560Gln |
missense |
ACOX2 |
1 |
81026 |
1.23417E-5 |
40513 |
0 |
NA |
3-58503123-C-T
|
p.Gly554Ser |
missense |
ACOX2 |
1 |
81016 |
1.23432E-5 |
40508 |
0 |
NA |
3-58503131-G-A
|
p.Thr551Ile |
missense |
ACOX2 |
4 |
81012 |
4.93754E-5 |
40506 |
0 |
2.22958E-4 |
3-58503136-A-G
|
p.Tyr549Tyr |
synonymous |
ACOX2 |
1 |
81006 |
1.23448E-5 |
40503 |
0 |
8.23873E-6 |
3-58503149-A-G
|
p.Val545Ala |
missense+splice_region |
ACOX2 |
1 |
80946 |
1.23539E-5 |
40473 |
0 |
3.97836E-6 |
3-58508216-C-T
|
c.1632+7G>A |
splice_region |
ACOX2 |
2 |
80630 |
2.48047E-5 |
40315 |
0 |
3.18674E-5 |
3-58508217-G-A
|
c.1632+6C>T |
splice_region |
ACOX2 |
71 |
80656 |
8.80282E-4 |
40328 |
0 |
8.84328E-4 |
3-58508220-C-T
|
c.1632+3G>A |
splice_region |
ACOX2 |
1 |
80694 |
1.23925E-5 |
40347 |
0 |
3.18654E-5 |
3-58508240-G-A
|
p.His539Tyr |
missense |
ACOX2 |
1 |
80886 |
1.23631E-5 |
40443 |
0 |
NA |
3-58508242-A-G
|
p.Ile538Thr |
missense |
ACOX2 |
1 |
80916 |
1.23585E-5 |
40458 |
0 |
3.97671E-6 |
3-58508244-G-A
|
p.Val537Val |
synonymous |
ACOX2 |
2 |
80918 |
2.47164E-5 |
40459 |
0 |
7.95336E-6 |
3-58508246-C-A
|
p.Val537Phe |
missense |
ACOX2 |
1 |
80932 |
1.23561E-5 |
40466 |
0 |
3.97665E-6 |
3-58508262-A-C
|
p.Ala531Ala |
synonymous |
ACOX2 |
1 |
81016 |
1.23432E-5 |
40508 |
0 |
8.23696E-6 |
3-58508267-C-T
|
p.Glu530Lys |
missense |
ACOX2 |
3 |
81032 |
3.70224E-5 |
40516 |
0 |
3.18674E-5 |
3-58508267-C-G
|
p.Glu530Gln |
missense |
ACOX2 |
4 |
81032 |
4.93632E-5 |
40516 |
0 |
3.18674E-5 |
3-58508268-G-A
|
p.His529His |
synonymous |
ACOX2 |
1 |
81030 |
1.23411E-5 |
40515 |
0 |
5.76578E-5 |
3-58508273-G-C
|
p.Gln528Glu |
missense |
ACOX2 |
77 |
81038 |
9.50171E-4 |
40519 |
1 |
6.08398E-4 |
3-58508283-G-A
|
p.Ser524Ser |
synonymous |
ACOX2 |
2 |
81044 |
2.4678E-5 |
40522 |
0 |
1.27486E-4 |
3-58508289-C-T
|
p.Thr522Thr |
synonymous |
ACOX2 |
2 |
81042 |
2.46786E-5 |
40521 |
0 |
1.98826E-5 |
3-58508304-A-G
|
p.His517His |
synonymous |
ACOX2 |
1 |
81026 |
1.23417E-5 |
40513 |
0 |
NA |
3-58508311-A-G
|
p.Val515Ala |
missense |
ACOX2 |
1 |
81034 |
1.23405E-5 |
40517 |
0 |
8.23737E-6 |
3-58508316-G-A
|
p.Asp513Asp |
synonymous |
ACOX2 |
1 |
81036 |
1.23402E-5 |
40518 |
0 |
8.2375E-6 |
3-58508318-C-T
|
p.Asp513Asn |
missense |
ACOX2 |
3 |
81016 |
3.70297E-5 |
40508 |
0 |
8.23873E-6 |
3-58508322-T-C
|
p.Ile511Met |
missense |
ACOX2 |
1 |
81012 |
1.23439E-5 |
40506 |
0 |
4.1195E-5 |
3-58508324-T-A
|
p.Ile511Leu |
missense |
ACOX2 |
1 |
81014 |
1.23435E-5 |
40507 |
0 |
3.9769E-6 |
3-58510153-C-A
|
p.Arg509Met |
missense+splice_region |
ACOX2 |
1 |
80720 |
1.23885E-5 |
40360 |
0 |
6.36902E-5 |
3-58510182-G-A
|
p.Tyr499Tyr |
synonymous |
ACOX2 |
2 |
80864 |
2.47329E-5 |
40432 |
0 |
NA |
3-58510187-G-A
|
p.Leu498Phe |
missense |
ACOX2 |
2 |
80874 |
2.47298E-5 |
40437 |
0 |
8.29917E-6 |
3-58510189-T-C
|
p.Glu497Gly |
missense |
ACOX2 |
1 |
80866 |
1.23661E-5 |
40433 |
0 |
NA |
3-58510191-C-T
|
c.*543G>A |
splice_region |
ACOX2 |
3 |
80866 |
3.70984E-5 |
40433 |
0 |
1.35217E-4 |
3-58510192-G-A
|
p.Pro496Leu |
missense |
ACOX2 |
1 |
80866 |
1.23661E-5 |
40433 |
0 |
1.64894E-5 |
3-58510194-G-A
|
p.Cys495Cys |
synonymous |
ACOX2 |
11 |
80860 |
1.36038E-4 |
40430 |
0 |
7.63875E-4 |
3-58510212-C-T
|
p.Arg489Arg |
synonymous |
ACOX2 |
1 |
80878 |
1.23643E-5 |
40439 |
0 |
8.24008E-6 |
3-58510244-C-T
|
p.Ala479Thr |
missense |
ACOX2 |
2 |
80872 |
2.47304E-5 |
40436 |
0 |
2.47194E-5 |
3-58510245-G-A
|
p.Thr478Thr |
synonymous |
ACOX2 |
3 |
80864 |
3.70993E-5 |
40432 |
0 |
3.29592E-5 |
3-58510256-C-T
|
p.Ala475Thr |
missense |
ACOX2 |
1 |
80840 |
1.23701E-5 |
40420 |
0 |
1.19336E-5 |
3-58510257-G-A
|
p.Val474Val |
synonymous |
ACOX2 |
1 |
80844 |
1.23695E-5 |
40422 |
0 |
4.11991E-5 |
3-58510261-G-C
|
p.Ser473Cys |
missense |
ACOX2 |
2 |
80856 |
2.47353E-5 |
40428 |
0 |
NA |
3-58510269-G-A
|
p.Leu470Leu |
synonymous |
ACOX2 |
1 |
80852 |
1.23683E-5 |
40426 |
0 |
3.97766E-6 |
3-58510284-C-T
|
p.Thr465Thr |
synonymous |
ACOX2 |
1 |
80776 |
1.23799E-5 |
40388 |
0 |
6.37227E-5 |
3-58510319-T-C
|
p.Ser454Gly |
missense |
ACOX2 |
1 |
80552 |
1.24143E-5 |
40276 |
0 |
6.37267E-5 |
3-58510320-C-T
|
p.Lys453Lys |
synonymous |
ACOX2 |
1 |
80544 |
1.24156E-5 |
40272 |
0 |
NA |
3-58510322-T-C
|
p.Lys453Glu |
missense |
ACOX2 |
1 |
80482 |
1.24251E-5 |
40241 |
0 |
NA |
3-58510326-C-T
|
p.Leu451Leu |
synonymous |
ACOX2 |
1 |
80422 |
1.24344E-5 |
40211 |
0 |
6.36862E-5 |
3-58512185-G-C
|
c.1346+8C>G |
splice_region |
ACOX2 |
1 |
79460 |
1.25849E-5 |
39730 |
0 |
NA |
3-58512198-C-T
|
p.Val447Val |
synonymous |
ACOX2 |
5 |
79698 |
6.27368E-5 |
39849 |
0 |
9.55657E-5 |
3-58512209-A-G
|
p.Tyr444His |
missense |
ACOX2 |
1 |
79926 |
1.25116E-5 |
39963 |
0 |
4.00856E-6 |
3-58512219-GT-G
|
p.Asn440fs |
frameshift |
ACOX2 |
1 |
80064 |
1.249E-5 |
40032 |
0 |
NA |
3-58512227-C-T
|
p.Gly438Ser |
missense |
ACOX2 |
1 |
80124 |
1.24807E-5 |
40062 |
0 |
NA |
3-58512230-C-T
|
p.Glu437Lys |
missense |
ACOX2 |
2 |
80146 |
2.49545E-5 |
40073 |
0 |
1.99413E-5 |
3-58512233-AG-A
|
p.Tyr436fs |
frameshift |
ACOX2 |
1 |
80208 |
1.24676E-5 |
40104 |
0 |
NA |
3-58512234-G-A
|
n.563C>T |
splice_region |
ACOX2 |
1 |
80242 |
1.24623E-5 |
40121 |
0 |
NA |
3-58512237-A-G
|
p.Cys434Cys |
synonymous |
ACOX2 |
14190 |
79748 |
0.177935 |
39874 |
2264 |
0.243907 |
3-58512240-G-A
|
p.Ser433Ser |
synonymous |
ACOX2 |
1 |
80238 |
1.24629E-5 |
40119 |
0 |
8.29683E-6 |
3-58512246-C-T
|
p.Ser431Ser |
synonymous |
ACOX2 |
2 |
80220 |
2.49314E-5 |
40110 |
0 |
1.27494E-4 |
3-58512247-G-A
|
p.Ser431Leu |
missense |
ACOX2 |
1 |
80228 |
1.24645E-5 |
40114 |
0 |
3.31126E-5 |
3-58512251-A-G
|
p.Leu430Leu |
synonymous |
ACOX2 |
1 |
80282 |
1.24561E-5 |
40141 |
0 |
7.96318E-6 |
3-58512260-C-T
|
p.Val427Ile |
missense |
ACOX2 |
3 |
80346 |
3.73385E-5 |
40173 |
0 |
1.65256E-5 |
3-58512267-T-C
|
p.Pro424Pro |
synonymous |
ACOX2 |
1 |
80380 |
1.24409E-5 |
40190 |
0 |
3.98023E-6 |
3-58512285-T-C
|
p.Ser418Ser |
synonymous |
ACOX2 |
4546 |
80214 |
0.0566734 |
40107 |
159 |
0.0650108 |
3-58512293-CA-AT
|
p.HisGly415GlnCys |
missense |
ACOX2 |
1 |
80500 |
1.24224E-5 |
40250 |
0 |
NA |
3-58512295-T-C
|
p.His415Arg |
missense |
ACOX2 |
1 |
80500 |
1.24224E-5 |
40250 |
0 |
8.24457E-6 |
3-58512302-C-T
|
p.Gly413Ser |
missense |
ACOX2 |
3 |
80506 |
3.72643E-5 |
40253 |
0 |
3.97836E-6 |
3-58512313-C-T
|
p.Arg409His |
missense |
ACOX2 |
7 |
80430 |
8.70322E-5 |
40215 |
0 |
1.91095E-4 |
3-58512314-G-A
|
p.Arg409Cys |
missense |
ACOX2 |
3 |
80436 |
3.72967E-5 |
40218 |
0 |
5.76996E-5 |
3-58512323-C-G
|
p.Glu406Gln |
missense |
ACOX2 |
11 |
80416 |
1.36789E-4 |
40208 |
0 |
2.86661E-4 |
3-58512353-T-C
|
p.Met396Val |
missense |
ACOX2 |
9 |
79966 |
1.12548E-4 |
39983 |
0 |
6.16753E-4 |
3-58512363-G-A
|
p.Gly392Gly |
synonymous |
ACOX2 |
1 |
79530 |
1.25739E-5 |
39765 |
0 |
NA |
3-58512366-C-T
|
p.Thr391Thr |
synonymous |
ACOX2 |
1 |
79412 |
1.25926E-5 |
39706 |
0 |
3.98311E-6 |
3-58512368-T-A
|
p.Thr391Ser |
missense |
ACOX2 |
1 |
79334 |
1.26049E-5 |
39667 |
0 |
3.98238E-6 |
3-58512375-T-C
|
p.Ala388Ala |
synonymous |
ACOX2 |
6624 |
78206 |
0.0846994 |
39103 |
475 |
0.14375 |
3-58512381-G-C
|
p.Leu386Leu |
splice_region+synonymous |
ACOX2 |
1 |
78534 |
1.27333E-5 |
39267 |
0 |
1.19845E-5 |
3-58512384-C-A
|
c.1156-1G>T |
splice_acceptor |
ACOX2 |
1 |
78292 |
1.27727E-5 |
39146 |
0 |
6.37105E-5 |
3-58512386-G-C
|
c.1156-3C>G |
splice_region |
ACOX2 |
2 |
78158 |
2.55892E-5 |
39079 |
0 |
1.60056E-5 |
3-58512386-G-A
|
c.1156-3C>T |
splice_region |
ACOX2 |
1 |
78158 |
1.27946E-5 |
39079 |
0 |
8.39123E-6 |
3-58512388-G-A
|
c.1156-5C>T |
splice_region |
ACOX2 |
3 |
77992 |
3.84655E-5 |
38996 |
0 |
8.40477E-6 |
3-58512391-A-T
|
c.1156-8T>A |
splice_region |
ACOX2 |
1 |
77728 |
1.28654E-5 |
38864 |
0 |
2.00293E-5 |
3-58514532-A-G
|
p.Phe382Leu |
missense |
ACOX2 |
1 |
81038 |
1.23399E-5 |
40519 |
0 |
NA |
3-58514542-T-G
|
p.Gln378His |
missense |
ACOX2 |
1 |
81062 |
1.23362E-5 |
40531 |
0 |
4.02359E-6 |
3-58514553-T-C
|
p.Ile375Val |
missense |
ACOX2 |
1 |
81066 |
1.23356E-5 |
40533 |
0 |
NA |
3-58514557-A-G
|
p.Thr373Thr |
synonymous |
ACOX2 |
2 |
81062 |
2.46725E-5 |
40531 |
0 |
NA |
3-58514571-G-A
|
p.Gln369* |
stop_gained |
ACOX2 |
1 |
81072 |
1.23347E-5 |
40536 |
0 |
NA |
3-58514581-C-T
|
p.Leu365Leu |
synonymous |
ACOX2 |
2 |
81074 |
2.46688E-5 |
40537 |
0 |
NA |
3-58514583-A-G
|
p.Leu365Leu |
synonymous |
ACOX2 |
1 |
81072 |
1.23347E-5 |
40536 |
0 |
1.59307E-5 |
3-58514584-GA-G
|
p.Leu364fs |
frameshift |
ACOX2 |
1 |
81074 |
1.23344E-5 |
40537 |
0 |
NA |
3-58514586-G-C
|
p.Leu364Val |
missense |
ACOX2 |
8 |
81072 |
9.86777E-5 |
40536 |
0 |
9.5511E-5 |
3-58514589-T-A
|
p.Ser363Cys |
missense |
ACOX2 |
1 |
81080 |
1.23335E-5 |
40540 |
0 |
6.25E-4 |
3-58514611-A-G
|
p.Tyr355Tyr |
synonymous |
ACOX2 |
2 |
81078 |
2.46676E-5 |
40539 |
0 |
3.984E-6 |
3-58514614-A-T
|
p.Ser354Arg |
missense |
ACOX2 |
1 |
81086 |
1.23326E-5 |
40543 |
0 |
3.18451E-5 |
3-58514619-T-C
|
p.Ile353Val |
missense |
ACOX2 |
1 |
81090 |
1.2332E-5 |
40545 |
0 |
NA |
3-58514623-C-T
|
p.Leu351Leu |
synonymous |
ACOX2 |
8 |
81090 |
9.86558E-5 |
40545 |
0 |
0.00125 |
3-58514632-A-G
|
p.Phe348Phe |
synonymous |
ACOX2 |
1 |
81096 |
1.23311E-5 |
40548 |
0 |
NA |
3-58514646-G-A
|
p.Gln344* |
stop_gained |
ACOX2 |
1 |
81086 |
1.23326E-5 |
40543 |
0 |
3.18532E-5 |
3-58514668-C-T
|
p.Lys336Lys |
synonymous |
ACOX2 |
1 |
81070 |
1.2335E-5 |
40535 |
0 |
3.18512E-5 |
3-58516199-C-T
|
p.Arg329Gln |
missense |
ACOX2 |
9 |
79336 |
1.13442E-4 |
39668 |
0 |
3.18532E-5 |
3-58516200-G-A
|
p.Arg329Trp |
missense |
ACOX2 |
2 |
79462 |
2.51693E-5 |
39731 |
0 |
3.19977E-5 |
3-58516203-GC-G
|
p.Leu328fs |
frameshift |
ACOX2 |
1 |
79586 |
1.2565E-5 |
39793 |
0 |
NA |
3-58516205-C-G
|
p.Arg327Pro |
missense |
ACOX2 |
1 |
79652 |
1.25546E-5 |
39826 |
0 |
NA |
3-58516205-C-T
|
p.Arg327Gln |
missense |
ACOX2 |
1 |
79652 |
1.25546E-5 |
39826 |
0 |
5.80922E-5 |
3-58516210-T-C
|
p.Gln325Gln |
synonymous |
ACOX2 |
1 |
79940 |
1.25094E-5 |
39970 |
0 |
3.99227E-6 |
3-58516214-C-T
|
p.Arg324His |
missense |
ACOX2 |
1 |
79974 |
1.25041E-5 |
39987 |
0 |
5.03525E-4 |
3-58516217-C-T
|
p.Arg323His |
missense |
ACOX2 |
11 |
79998 |
1.37503E-4 |
39999 |
0 |
5.03525E-4 |
3-58516221-T-C
|
p.Ile322Val |
missense |
ACOX2 |
2 |
80156 |
2.49513E-5 |
40078 |
0 |
3.30278E-5 |
3-58516223-A-T
|
p.Val321Asp |
missense |
ACOX2 |
1 |
80220 |
1.24657E-5 |
40110 |
0 |
NA |
3-58516225-C-T
|
p.Ser320Ser |
synonymous |
ACOX2 |
1 |
80286 |
1.24555E-5 |
40143 |
0 |
1.19598E-5 |
3-58516227-A-G
|
p.Ser320Pro |
missense |
ACOX2 |
1 |
80308 |
1.24521E-5 |
40154 |
0 |
NA |
3-58516232-C-T
|
p.Arg318His |
missense |
ACOX2 |
6 |
80394 |
7.46324E-5 |
40197 |
0 |
4.38244E-5 |
3-58516233-G-T
|
p.Arg318Ser |
missense |
ACOX2 |
1 |
80442 |
1.24313E-5 |
40221 |
0 |
NA |
3-58516235-A-G
|
p.Met317Thr |
missense |
ACOX2 |
7 |
80508 |
8.69479E-5 |
40254 |
0 |
5.17747E-5 |
3-58516239-C-T
|
p.Ala316Thr |
missense |
ACOX2 |
29 |
80536 |
3.60087E-4 |
40268 |
0 |
7.64867E-4 |
3-58516248-A-G
|
p.Cys313Arg |
missense |
ACOX2 |
1 |
80716 |
1.23891E-5 |
40358 |
0 |
NA |
3-58516250-G-T
|
p.Ala312Asp |
missense |
ACOX2 |
2 |
80704 |
2.47819E-5 |
40352 |
0 |
8.24674E-6 |
3-58516258-C-T
|
p.Leu309Leu |
synonymous |
ACOX2 |
1 |
80760 |
1.23824E-5 |
40380 |
0 |
NA |
3-58516264-A-G
|
p.Pro307Pro |
synonymous |
ACOX2 |
1 |
80796 |
1.23769E-5 |
40398 |
0 |
NA |
3-58516267-G-A
|
p.Leu306Leu |
synonymous |
ACOX2 |
1 |
80790 |
1.23778E-5 |
40395 |
0 |
6.37064E-5 |
3-58516288-CT-C
|
p.Glu299fs |
frameshift |
ACOX2 |
1 |
80848 |
1.23689E-5 |
40424 |
0 |
NA |
3-58516295-C-T
|
p.Arg297Gln |
missense |
ACOX2 |
2 |
80846 |
2.47384E-5 |
40423 |
0 |
3.30491E-5 |
3-58516296-G-A
|
p.Arg297Trp |
missense |
ACOX2 |
1 |
80848 |
1.23689E-5 |
40424 |
0 |
8.26269E-6 |
3-58516299-C-T
|
p.Val296Met |
missense |
ACOX2 |
9 |
80858 |
1.11306E-4 |
40429 |
0 |
1.91119E-4 |
3-58516301-A-G
|
p.Val295Ala |
missense |
ACOX2 |
3 |
80864 |
3.70993E-5 |
40432 |
0 |
NA |
3-58516301-A-T
|
p.Val295Glu |
missense |
ACOX2 |
2 |
80864 |
2.47329E-5 |
40432 |
0 |
NA |
3-58516307-A-G
|
p.Met293Thr |
missense |
ACOX2 |
1 |
80866 |
1.23661E-5 |
40433 |
0 |
2.48073E-5 |
3-58516318-G-A
|
p.Asn289Asn |
synonymous |
ACOX2 |
15 |
80876 |
1.85469E-4 |
40438 |
1 |
9.94898E-4 |
3-58516335-C-T
|
p.Gly284Ser |
missense |
ACOX2 |
37 |
80828 |
4.57762E-4 |
40414 |
1 |
8.91549E-4 |
3-58516336-G-A
|
p.Leu283Leu |
synonymous |
ACOX2 |
4 |
80824 |
4.94902E-5 |
40412 |
0 |
7.9694E-6 |
3-58516344-C-T
|
p.Val281Ile |
missense |
ACOX2 |
24 |
80786 |
2.97081E-4 |
40393 |
0 |
0.00125 |
3-58516345-G-A
|
p.Tyr280Tyr |
synonymous |
ACOX2 |
11 |
80778 |
1.36176E-4 |
40389 |
0 |
3.35858E-4 |
3-58516349-G-T
|
p.Thr279Asn |
missense |
ACOX2 |
10 |
80766 |
1.23814E-4 |
40383 |
0 |
1.43361E-4 |
3-58516355-T-C
|
p.Asp277Gly |
missense |
ACOX2 |
2 |
80746 |
2.4769E-5 |
40373 |
0 |
3.99218E-6 |
3-58516973-G-A
|
c.819+5C>T |
splice_region |
ACOX2 |
1 |
80806 |
1.23753E-5 |
40403 |
0 |
8.31767E-6 |
3-58516975-A-G
|
c.819+3T>C |
splice_region |
ACOX2 |
1 |
80824 |
1.23726E-5 |
40412 |
0 |
1.19456E-5 |
3-58516976-AC-A
|
c.819+1delG |
splice_donor |
ACOX2 |
1 |
80852 |
1.23683E-5 |
40426 |
0 |
NA |
3-58516983-C-A
|
p.Ala272Ser |
missense |
ACOX2 |
1 |
80906 |
1.236E-5 |
40453 |
0 |
NA |
3-58516986-A-AGC
|
p.Phe271fs |
frameshift |
ACOX2 |
2 |
80946 |
2.47078E-5 |
40473 |
0 |
3.97883E-6 |
3-58516988-C-T
|
p.Arg270His |
missense |
ACOX2 |
2 |
80936 |
2.47109E-5 |
40468 |
0 |
3.18552E-5 |
3-58516999-G-T
|
p.Asn266Lys |
missense |
ACOX2 |
2 |
81020 |
2.46853E-5 |
40510 |
0 |
1.6494E-5 |
3-58517010-G-T
|
p.Pro263Thr |
missense |
ACOX2 |
1 |
81036 |
1.23402E-5 |
40518 |
0 |
NA |
3-58517016-G-A
|
p.Arg261Trp |
missense |
ACOX2 |
31 |
81044 |
3.82508E-4 |
40522 |
0 |
6.25E-4 |
3-58517020-A-G
|
p.His259His |
splice_region+synonymous |
ACOX2 |
1 |
81038 |
1.23399E-5 |
40519 |
0 |
7.95336E-6 |
3-58517035-G-C
|
p.Phe254Leu |
missense |
ACOX2 |
1 |
81050 |
1.23381E-5 |
40525 |
0 |
NA |
3-58517042-T-C
|
p.Asn252Ser |
missense |
ACOX2 |
2 |
81052 |
2.46755E-5 |
40526 |
0 |
NA |
3-58517048-G-A
|
p.Gln101* |
stop_gained |
ACOX2 |
2 |
81040 |
2.46792E-5 |
40520 |
0 |
3.97655E-6 |
3-58517053-A-C
|
p.Asp248Glu |
missense |
ACOX2 |
1 |
81042 |
1.23393E-5 |
40521 |
0 |
NA |
3-58517063-A-C
|
p.Met245Arg |
missense |
ACOX2 |
1 |
81036 |
1.23402E-5 |
40518 |
0 |
NA |
3-58517065-C-T
|
p.Arg95Lys |
missense |
ACOX2 |
1 |
81034 |
1.23405E-5 |
40517 |
0 |
3.97684E-6 |
3-58517073-C-T
|
p.Gly242Arg |
missense |
ACOX2 |
5 |
81026 |
6.17086E-5 |
40513 |
0 |
6.60327E-5 |
3-58517074-G-A
|
p.Ser92Leu |
missense |
ACOX2 |
2 |
81026 |
2.46834E-5 |
40513 |
0 |
9.55536E-5 |
3-58517078-T-G
|
p.Asp240Ala |
missense |
ACOX2 |
1 |
81018 |
1.23429E-5 |
40509 |
0 |
3.97795E-6 |
3-58517084-A-G
|
p.Ile238Thr |
missense |
ACOX2 |
252 |
81006 |
0.00311088 |
40503 |
0 |
0.00678171 |
3-58517095-T-C
|
c.704-2A>G |
splice_acceptor |
ACOX2 |
2 |
80988 |
2.4695E-5 |
40494 |
0 |
NA |
3-58517096-T-G
|
p.Lys85Gln |
missense |
ACOX2 |
1 |
80992 |
1.23469E-5 |
40496 |
0 |
1.6794E-5 |
3-58517101-G-C
|
p.Ser83Cys |
missense |
ACOX2 |
1 |
80964 |
1.23512E-5 |
40482 |
0 |
7.56586E-5 |
3-58517105-T-C
|
p.Ile82Val |
missense |
ACOX2 |
1 |
80956 |
1.23524E-5 |
40478 |
0 |
1.27429E-4 |
3-58517112-G-A
|
p.Leu79Leu |
synonymous |
ACOX2 |
5 |
80910 |
6.17971E-5 |
40455 |
0 |
1.73928E-5 |
3-58517117-C-T
|
p.Val78Ile |
missense+splice_region |
ACOX2 |
94 |
80868 |
0.00116239 |
40434 |
0 |
0.00153666 |
3-58517449-C-T
|
p.Arg225Gln |
missense |
ACOX2 |
7 |
80762 |
8.66744E-5 |
40381 |
0 |
1.15678E-4 |
3-58517450-G-A
|
p.Arg225Trp |
missense |
ACOX2 |
47 |
80754 |
5.82015E-4 |
40377 |
0 |
3.18271E-4 |
3-58517467-G-T
|
p.Ala219Asp |
missense |
ACOX2 |
1 |
80710 |
1.239E-5 |
40355 |
0 |
NA |
3-58517468-C-T
|
p.Ala219Thr |
missense |
ACOX2 |
1 |
80698 |
1.23919E-5 |
40349 |
0 |
1.98916E-5 |
3-58517469-G-A
|
p.His218His |
synonymous |
ACOX2 |
10 |
80704 |
1.2391E-4 |
40352 |
0 |
1.59307E-4 |
3-58517479-C-T
|
p.Arg215Gln |
missense |
ACOX2 |
1 |
80660 |
1.23977E-5 |
40330 |
0 |
1.19359E-5 |
3-58517480-G-A
|
p.Arg215Trp |
missense |
ACOX2 |
27 |
80678 |
3.34664E-4 |
40339 |
0 |
2.23163E-4 |
3-58517491-G-A
|
p.Ser211Leu |
missense |
ACOX2 |
34 |
80658 |
4.21533E-4 |
40329 |
0 |
2.42717E-4 |
3-58517503-T-C
|
p.Gln207Arg |
missense |
ACOX2 |
1 |
80598 |
1.24073E-5 |
40299 |
0 |
NA |
3-58517519-C-A
|
p.Ala202Ser |
missense |
ACOX2 |
1 |
80506 |
1.24214E-5 |
40253 |
0 |
NA |
3-58517519-C-T
|
p.Ala202Thr |
missense |
ACOX2 |
1 |
80506 |
1.24214E-5 |
40253 |
0 |
NA |
3-58517520-A-G
|
p.His201His |
synonymous |
ACOX2 |
3648 |
80396 |
0.0453754 |
40198 |
171 |
0.0790534 |
3-58517529-T-C
|
p.Ser198Ser |
synonymous |
ACOX2 |
2 |
80404 |
2.48744E-5 |
40202 |
0 |
2.50534E-5 |
3-58517532-C-A
|
p.Arg197Arg |
synonymous |
ACOX2 |
1 |
80362 |
1.24437E-5 |
40181 |
0 |
NA |
3-58517533-C-T
|
p.Arg197Gln |
missense |
ACOX2 |
5 |
80338 |
6.2237E-5 |
40169 |
0 |
1.67423E-5 |
3-58517534-G-A
|
p.Arg197Trp |
missense |
ACOX2 |
18 |
80310 |
2.24131E-4 |
40155 |
0 |
2.68101E-4 |
3-58517537-C-T
|
p.Gly196Arg |
missense+splice_region |
ACOX2 |
1 |
80278 |
1.24567E-5 |
40139 |
0 |
8.39391E-6 |
3-58517547-C-T
|
c.584-8G>A |
splice_region |
ACOX2 |
4 |
80094 |
4.99413E-5 |
40047 |
1 |
NA |
3-58519186-C-T
|
p.Trp190* |
stop_gained |
ACOX2 |
1 |
80798 |
1.23765E-5 |
40399 |
0 |
NA |
3-58519197-A-G
|
p.Thr186Thr |
synonymous |
ACOX2 |
1 |
80858 |
1.23674E-5 |
40429 |
0 |
NA |
3-58519203-C-T
|
p.Thr184Thr |
synonymous |
ACOX2 |
3 |
80910 |
3.70782E-5 |
40455 |
0 |
4.94283E-5 |
3-58519204-G-A
|
p.Thr184Met |
missense |
ACOX2 |
9 |
80918 |
1.11224E-4 |
40459 |
0 |
6.59011E-5 |
3-58519204-G-C
|
p.Thr184Arg |
missense |
ACOX2 |
6 |
80918 |
7.41491E-5 |
40459 |
0 |
6.25E-4 |
3-58519216-A-G
|
p.Ile180Thr |
missense |
ACOX2 |
1 |
80980 |
1.23487E-5 |
40490 |
0 |
NA |
3-58519224-C-T
|
p.Glu177Glu |
synonymous |
ACOX2 |
1 |
81000 |
1.23457E-5 |
40500 |
0 |
NA |
3-58519227-CT-C
|
p.Gln176fs |
frameshift |
ACOX2 |
1 |
81000 |
1.23457E-5 |
40500 |
0 |
NA |
3-58519233-G-A
|
p.Ala174Ala |
synonymous |
ACOX2 |
1 |
80986 |
1.23478E-5 |
40493 |
0 |
NA |
3-58519239-G-A
|
p.Asp172Asp |
synonymous |
ACOX2 |
3 |
80982 |
3.70453E-5 |
40491 |
0 |
9.56084E-5 |
3-58519267-T-G
|
p.Gln163Pro |
missense |
ACOX2 |
2 |
80872 |
2.47304E-5 |
40436 |
0 |
1.64878E-5 |
3-58519274-A-G
|
p.Tyr161His |
missense |
ACOX2 |
1 |
80808 |
1.2375E-5 |
40404 |
0 |
1.64924E-5 |
3-58519275-T-C
|
p.Thr160Thr |
synonymous |
ACOX2 |
1 |
80810 |
1.23747E-5 |
40405 |
0 |
NA |
3-58519276-G-A
|
p.Thr160Ile |
missense |
ACOX2 |
1 |
80800 |
1.23762E-5 |
40400 |
0 |
NA |
3-58519278-C-G
|
p.Gly159Gly |
splice_region+synonymous |
ACOX2 |
1 |
80784 |
1.23787E-5 |
40392 |
0 |
3.98203E-6 |
3-58519717-T-G
|
c.475+4A>C |
splice_region |
ACOX2 |
11 |
80986 |
1.35826E-4 |
40493 |
0 |
6.37146E-5 |
3-58519728-C-T
|
p.Leu156Leu |
synonymous |
ACOX2 |
8 |
81010 |
9.87532E-5 |
40505 |
0 |
8.2481E-6 |
3-58519730-A-G
|
p.Leu156Leu |
synonymous |
ACOX2 |
1 |
81018 |
1.23429E-5 |
40509 |
0 |
3.19101E-5 |
3-58519731-CTCTG-C
|
p.Thr154fs |
frameshift |
ACOX2 |
142 |
81018 |
0.0017527 |
40509 |
0 |
0.00321656 |
3-58519739-G-A
|
p.Gln153* |
stop_gained |
ACOX2 |
1 |
81032 |
1.23408E-5 |
40516 |
0 |
3.97684E-6 |
3-58519744-T-A
|
p.Tyr151Phe |
missense |
ACOX2 |
1 |
81036 |
1.23402E-5 |
40518 |
0 |
3.18573E-5 |
3-58519746-C-T
|
p.Thr150Thr |
synonymous |
ACOX2 |
4 |
81046 |
4.93547E-5 |
40523 |
0 |
5.03525E-4 |
3-58519746-C-A
|
p.Thr150Thr |
synonymous |
ACOX2 |
1 |
81046 |
1.23387E-5 |
40523 |
0 |
NA |
3-58519747-G-A
|
p.Thr150Met |
missense |
ACOX2 |
2 |
81050 |
2.46761E-5 |
40525 |
0 |
4.9434E-5 |
3-58519751-C-T
|
p.Ala149Thr |
missense |
ACOX2 |
3 |
81044 |
3.70169E-5 |
40522 |
0 |
2.54972E-4 |
3-58519752-G-A
|
p.Ile148Ile |
synonymous |
ACOX2 |
1 |
81048 |
1.23384E-5 |
40524 |
0 |
3.57898E-5 |
3-58519764-G-A
|
p.Asn144Asn |
synonymous |
ACOX2 |
3 |
81062 |
3.70087E-5 |
40531 |
0 |
6.58968E-5 |
3-58519766-T-C
|
p.Asn144Asp |
missense |
ACOX2 |
1 |
81062 |
1.23362E-5 |
40531 |
0 |
8.23696E-6 |
3-58519773-G-A
|
p.Leu141Leu |
synonymous |
ACOX2 |
2 |
81068 |
2.46706E-5 |
40534 |
0 |
1.35201E-4 |
3-58519776-T-G
|
p.Pro140Pro |
synonymous |
ACOX2 |
1 |
81066 |
1.23356E-5 |
40533 |
0 |
6.3743E-5 |
3-58519777-G-A
|
p.Pro140Leu |
missense |
ACOX2 |
1 |
81070 |
1.2335E-5 |
40535 |
0 |
3.9764E-6 |
3-58519778-G-A
|
p.Pro140Ser |
missense |
ACOX2 |
1 |
81070 |
1.2335E-5 |
40535 |
0 |
NA |
3-58519786-T-C
|
p.Lys137Arg |
missense |
ACOX2 |
1 |
81076 |
1.23341E-5 |
40538 |
0 |
3.18613E-5 |
3-58519796-G-T
|
p.Gln134Lys |
missense |
ACOX2 |
3 |
81080 |
3.70005E-5 |
40540 |
0 |
8.23655E-6 |
3-58519799-C-A
|
p.Glu133* |
stop_gained |
ACOX2 |
1 |
81078 |
1.23338E-5 |
40539 |
0 |
NA |
3-58519807-C-T
|
p.Gly130Asp |
missense |
ACOX2 |
10 |
81076 |
1.23341E-4 |
40538 |
0 |
8.23655E-6 |
3-58519810-A-C
|
p.Leu129Arg |
missense |
ACOX2 |
2 |
81074 |
2.46688E-5 |
40537 |
0 |
1.19292E-5 |
3-58519824-TCTCA-T
|
p.Val123fs |
frameshift |
ACOX2 |
1 |
81064 |
1.23359E-5 |
40532 |
0 |
6.37389E-5 |
3-58519825-C-T
|
p.Arg124Lys |
missense |
ACOX2 |
9 |
81068 |
1.11018E-4 |
40534 |
0 |
1.27437E-4 |
3-58519829-C-T
|
p.Val123Met |
missense |
ACOX2 |
7 |
81062 |
8.63537E-5 |
40531 |
0 |
0.00125 |
3-58519829-C-G
|
p.Val123Leu |
missense |
ACOX2 |
1 |
81062 |
1.23362E-5 |
40531 |
0 |
NA |
3-58519830-G-A
|
p.Phe122Phe |
synonymous |
ACOX2 |
1 |
81066 |
1.23356E-5 |
40533 |
0 |
NA |
3-58519834-ACT-A
|
p.Arg120fs |
frameshift |
ACOX2 |
1 |
81066 |
1.23356E-5 |
40533 |
0 |
5.03525E-4 |
3-58519834-A-G
|
p.Val121Ala |
missense |
ACOX2 |
1 |
81066 |
1.23356E-5 |
40533 |
0 |
NA |
3-58519854-C-T
|
p.Val114Val |
synonymous |
ACOX2 |
1 |
81060 |
1.23365E-5 |
40530 |
0 |
NA |
3-58519856-C-T
|
p.Val114Met |
missense |
ACOX2 |
8 |
81044 |
9.87118E-5 |
40522 |
0 |
7.95678E-5 |
3-58519857-G-A
|
p.Asp113Asp |
synonymous |
ACOX2 |
49 |
81042 |
6.04625E-4 |
40521 |
0 |
2.54891E-4 |
3-58519867-AG-A
|
p.Leu110fs |
frameshift |
ACOX2 |
1 |
81022 |
1.23423E-5 |
40511 |
0 |
3.18593E-5 |
3-58519876-T-C
|
c.324-4A>G |
splice_region |
ACOX2 |
12 |
80998 |
1.48152E-4 |
40499 |
0 |
8.25777E-5 |
3-58520084-C-CACCT
|
c.322_323+2dupAGGT |
splice_donor |
ACOX2 |
2 |
81068 |
2.46706E-5 |
40534 |
0 |
1.65235E-5 |
3-58520085-A-G
|
c.323+2T>C |
splice_donor |
ACOX2 |
4 |
81066 |
4.93425E-5 |
40533 |
1 |
2.47754E-5 |
3-58520091-A-G
|
p.Tyr107His |
missense |
ACOX2 |
3 |
81072 |
3.70041E-5 |
40536 |
0 |
3.97801E-6 |
3-58520092-A-G
|
p.Ala106Ala |
synonymous |
ACOX2 |
1 |
81076 |
1.23341E-5 |
40538 |
0 |
NA |
3-58520093-G-A
|
p.Ala106Val |
missense |
ACOX2 |
1 |
81074 |
1.23344E-5 |
40537 |
0 |
2.78441E-5 |
3-58520094-C-T
|
p.Ala106Thr |
missense |
ACOX2 |
2 |
81076 |
2.46682E-5 |
40538 |
0 |
7.55894E-5 |
3-58520095-G-A
|
p.Tyr105Tyr |
synonymous |
ACOX2 |
9 |
81076 |
1.11007E-4 |
40538 |
0 |
1.59378E-4 |
3-58520108-C-T
|
p.Arg101His |
missense |
ACOX2 |
1 |
81088 |
1.23323E-5 |
40544 |
0 |
2.47202E-5 |
3-58520109-G-A
|
p.Arg101Cys |
missense |
ACOX2 |
1 |
81084 |
1.23329E-5 |
40542 |
0 |
3.97697E-6 |
3-58520119-T-C
|
p.Leu97Leu |
synonymous |
ACOX2 |
4 |
81094 |
4.93255E-5 |
40547 |
0 |
8.23764E-6 |
3-58520120-A-C
|
p.Leu97* |
stop_gained |
ACOX2 |
1 |
81092 |
1.23317E-5 |
40546 |
0 |
NA |
3-58520125-A-G
|
p.Gly95Gly |
synonymous |
ACOX2 |
1 |
81098 |
1.23308E-5 |
40549 |
0 |
NA |
3-58520131-G-A
|
p.Arg93Arg |
synonymous |
ACOX2 |
3 |
81092 |
3.6995E-5 |
40546 |
0 |
8.23723E-6 |
3-58520132-C-T
|
p.Arg93His |
missense |
ACOX2 |
3 |
81092 |
3.6995E-5 |
40546 |
0 |
6.37267E-5 |
3-58520135-C-T
|
p.Arg92Gln |
missense |
ACOX2 |
3 |
81092 |
3.6995E-5 |
40546 |
0 |
9.06066E-5 |
3-58520141-A-G
|
p.Ile90Thr |
missense |
ACOX2 |
1 |
81092 |
1.23317E-5 |
40546 |
0 |
4.11841E-5 |
3-58520141-A-T
|
p.Ile90Lys |
missense |
ACOX2 |
1 |
81092 |
1.23317E-5 |
40546 |
0 |
8.23683E-6 |
3-58520145-A-G
|
p.Leu89Leu |
synonymous |
ACOX2 |
1 |
81098 |
1.23308E-5 |
40549 |
0 |
1.64737E-5 |
3-58520147-C-T
|
p.Arg88Gln |
missense |
ACOX2 |
4 |
81098 |
4.9323E-5 |
40549 |
0 |
3.18119E-5 |
3-58520159-G-A
|
p.Ala84Val |
missense |
ACOX2 |
1 |
81094 |
1.23314E-5 |
40547 |
0 |
3.18532E-5 |
3-58520162-C-T
|
p.Arg83Lys |
missense |
ACOX2 |
1 |
81098 |
1.23308E-5 |
40549 |
0 |
8.23683E-6 |
3-58520165-C-T
|
p.Arg82Gln |
missense |
ACOX2 |
7 |
81098 |
8.63153E-5 |
40549 |
0 |
5.03525E-4 |
3-58520166-G-A
|
p.Arg82Trp |
missense |
ACOX2 |
3 |
81092 |
3.6995E-5 |
40546 |
0 |
3.29468E-5 |
3-58520166-G-C
|
p.Arg82Gly |
missense |
ACOX2 |
2 |
81092 |
2.46633E-5 |
40546 |
1 |
NA |
3-58520168-A-G
|
p.Met81Thr |
missense |
ACOX2 |
1 |
81090 |
1.2332E-5 |
40545 |
0 |
3.97633E-6 |
3-58520180-T-C
|
p.Tyr77Cys |
missense |
ACOX2 |
1 |
81096 |
1.23311E-5 |
40548 |
0 |
8.23655E-6 |
3-58520183-C-T
|
p.Arg76His |
missense |
ACOX2 |
2 |
81092 |
2.46633E-5 |
40546 |
0 |
8.23655E-6 |
3-58520184-G-A
|
p.Arg76Cys |
missense |
ACOX2 |
1 |
81094 |
1.23314E-5 |
40547 |
0 |
6.37064E-5 |
3-58520186-T-C
|
p.Glu75Gly |
missense |
ACOX2 |
2 |
81088 |
2.46646E-5 |
40544 |
0 |
NA |
3-58520187-C-G
|
p.Glu75Gln |
missense |
ACOX2 |
1 |
81084 |
1.23329E-5 |
40542 |
0 |
4.11841E-5 |
3-58520207-T-C
|
p.Asn68Ser |
missense |
ACOX2 |
1 |
81048 |
1.23384E-5 |
40524 |
0 |
NA |
3-58520207-T-A
|
p.Asn68Ile |
missense |
ACOX2 |
1 |
81048 |
1.23384E-5 |
40524 |
0 |
NA |
3-58520226-C-T
|
p.Glu62Lys |
missense |
ACOX2 |
2 |
80990 |
2.46944E-5 |
40495 |
0 |
3.29707E-5 |
3-58520227-C-T
|
p.Pro61Pro |
synonymous |
ACOX2 |
2 |
80994 |
2.46932E-5 |
40497 |
0 |
0.00125 |
3-58520228-G-A
|
p.Pro61Leu |
missense |
ACOX2 |
30 |
80976 |
3.7048E-4 |
40488 |
0 |
0.00151057 |
3-58520238-G-T
|
p.His58Asn |
missense |
ACOX2 |
10 |
80916 |
1.23585E-4 |
40458 |
0 |
7.42599E-5 |
3-58520296-C-G
|
n.338+7G>C |
splice_region |
ACOX2 |
209 |
78900 |
0.00264892 |
39450 |
0 |
0.00665605 |
3-58520306-G-C
|
n.691C>G |
splice_region |
ACOX2 |
42864 |
51228 |
0.83673 |
25614 |
18050 |
0.924313 |
3-58520340-A-T
|
n.309-5T>A |
splice_region |
ACOX2 |
1 |
73330 |
1.3637E-5 |
36665 |
0 |
NA |
3-58520669-C-T
|
c.160+5G>A |
splice_region |
ACOX2 |
20 |
80842 |
2.47396E-4 |
40421 |
0 |
4.61703E-4 |
3-58520674-C-A
|
p.Glu54* |
stop_gained |
ACOX2 |
1 |
80872 |
1.23652E-5 |
40436 |
0 |
NA |
3-58520684-G-A
|
p.Arg50Arg |
synonymous |
ACOX2 |
2 |
80876 |
2.47292E-5 |
40438 |
0 |
NA |
3-58520685-C-T
|
p.Arg50His |
missense |
ACOX2 |
6 |
80872 |
7.41913E-5 |
40436 |
0 |
3.29663E-5 |
3-58520686-G-A
|
p.Arg50Cys |
missense |
ACOX2 |
4 |
80886 |
4.94523E-5 |
40443 |
0 |
1.91156E-4 |
3-58520691-G-T
|
p.Ala48Glu |
missense |
ACOX2 |
1 |
80896 |
1.23616E-5 |
40448 |
0 |
1.6714E-4 |
3-58520695-T-C
|
p.Thr47Ala |
missense |
ACOX2 |
1 |
80914 |
1.23588E-5 |
40457 |
0 |
7.95735E-6 |
3-58520703-G-A
|
p.Ala44Val |
missense |
ACOX2 |
1 |
80928 |
1.23567E-5 |
40464 |
0 |
3.97782E-6 |
3-58520725-T-C
|
p.Thr37Ala |
missense |
ACOX2 |
1 |
81018 |
1.23429E-5 |
40509 |
0 |
1.19297E-5 |
3-58520730-C-T
|
p.Arg35Gln |
missense |
ACOX2 |
14 |
81022 |
1.72793E-4 |
40511 |
0 |
4.78255E-4 |
3-58520731-G-A
|
p.Arg35Trp |
missense |
ACOX2 |
55 |
81032 |
6.78744E-4 |
40516 |
0 |
6.91915E-4 |
3-58520736-A-G
|
p.Val33Ala |
missense |
ACOX2 |
3 |
81046 |
3.7016E-5 |
40523 |
0 |
NA |
3-58520737-C-T
|
p.Val33Met |
missense |
ACOX2 |
60 |
81046 |
7.4032E-4 |
40523 |
1 |
0.00152973 |
3-58520738-G-A
|
p.Asp32Asp |
synonymous |
ACOX2 |
4 |
81050 |
4.93523E-5 |
40525 |
0 |
2.7835E-5 |
3-58520740-CA-C
|
p.Phe31fs |
frameshift |
ACOX2 |
1 |
81060 |
1.23365E-5 |
40530 |
0 |
3.57881E-5 |
3-58520755-A-G
|
p.Tyr27His |
missense |
ACOX2 |
1 |
81064 |
1.23359E-5 |
40532 |
0 |
NA |
3-58520770-T-C
|
p.Ile22Val |
missense |
ACOX2 |
3 |
81074 |
3.70032E-5 |
40537 |
0 |
4.11848E-5 |
3-58520774-G-A
|
p.Pro20Pro |
synonymous |
ACOX2 |
3 |
81076 |
3.70023E-5 |
40538 |
0 |
6.37105E-5 |
3-58520775-G-C
|
p.Pro20Arg |
missense |
ACOX2 |
2 |
81078 |
2.46676E-5 |
40539 |
0 |
NA |
3-58520792-C-T
|
p.Trp14* |
stop_gained |
ACOX2 |
1 |
81080 |
1.23335E-5 |
40540 |
0 |
1.64734E-5 |
3-58520797-T-G
|
p.Thr13Pro |
missense |
ACOX2 |
1 |
81084 |
1.23329E-5 |
40542 |
0 |
NA |
3-58520800-C-T
|
p.Asp12Asn |
missense |
ACOX2 |
7 |
81084 |
8.63302E-5 |
40542 |
0 |
3.18715E-5 |
3-58520806-A-G
|
p.Leu10Leu |
synonymous |
ACOX2 |
84 |
81078 |
0.00103604 |
40539 |
0 |
0.00155673 |
3-58520811-A-T
|
p.Val8Glu |
missense |
ACOX2 |
1 |
81084 |
1.23329E-5 |
40542 |
0 |
NA |
3-58520814-C-T
|
p.Arg7Gln |
missense |
ACOX2 |
1 |
81074 |
1.23344E-5 |
40537 |
0 |
6.25E-4 |
3-58520828-G-T
|
p.Gly2Gly |
synonymous |
ACOX2 |
1 |
81052 |
1.23378E-5 |
40526 |
0 |
1.59276E-4 |
3-58520876-A-T
|
c.-43T>A |
5_prime_UTR_premature_start_codon_gain |
ACOX2 |
1 |
80854 |
1.2368E-5 |
40427 |
0 |
NA |
3-58520880-G-A
|
c.-47C>T |
5_prime_UTR_premature_start_codon_gain |
ACOX2 |
46 |
80796 |
5.69335E-4 |
40398 |
0 |
0.00250627 |
3-58520889-G-A
|
c.-56C>T |
5_prime_UTR_premature_start_codon_gain |
ACOX2 |
7 |
80618 |
8.68292E-5 |
40309 |
0 |
9.5584E-5 |
3-58520926-T-G
|
c.-91-2A>C |
splice_acceptor |
ACOX2 |
1 |
79182 |
1.26291E-5 |
39591 |
0 |
3.18634E-5 |
3-58522898-G-A
|
c.-144C>T |
5_prime_UTR_premature_start_codon_gain |
ACOX2 |
2 |
2964 |
6.74764E-4 |
1482 |
0 |
1.27405E-4 |
3-58522954-T-G
|
c.-200A>C |
5_prime_UTR_premature_start_codon_gain |
ACOX2 |
2848 |
2854 |
0.997898 |
1427 |
1421 |
0.984867 |