12-47470660-G-A
|
c.*14-3C>T |
splice_region |
AMIGO2 |
1 |
16278 |
6.14326E-5 |
8139 |
0 |
9.55231E-5 |
12-47471205-T-A
|
c.*12A>T |
splice_region |
AMIGO2 |
2 |
80986 |
2.46956E-5 |
40493 |
0 |
8.81197E-6 |
12-47471237-G-A
|
p.Pro517Ser |
missense |
AMIGO2 |
1 |
81004 |
1.23451E-5 |
40502 |
0 |
8.34641E-6 |
12-47471242-TC-T
|
p.Asp515fs |
frameshift |
AMIGO2 |
1 |
81010 |
1.23442E-5 |
40505 |
0 |
NA |
12-47471257-T-C
|
p.Asn510Ser |
missense |
AMIGO2 |
1 |
81014 |
1.23435E-5 |
40507 |
0 |
1.59239E-5 |
12-47471266-T-C
|
p.Asp507Gly |
missense |
AMIGO2 |
1 |
81012 |
1.23439E-5 |
40506 |
0 |
NA |
12-47471270-A-G
|
p.Ser506Pro |
missense |
AMIGO2 |
13 |
81018 |
1.60458E-4 |
40509 |
0 |
1.59256E-4 |
12-47471275-G-C
|
p.Ser504Cys |
missense |
AMIGO2 |
1 |
81006 |
1.23448E-5 |
40503 |
0 |
1.19373E-5 |
12-47471277-T-C
|
p.Lys503Lys |
synonymous |
AMIGO2 |
2 |
81010 |
2.46883E-5 |
40505 |
0 |
1.27405E-4 |
12-47471287-G-A
|
p.Thr500Met |
missense |
AMIGO2 |
2 |
81008 |
2.46889E-5 |
40504 |
0 |
NA |
12-47471298-G-C
|
p.Ile496Met |
missense |
AMIGO2 |
4 |
80996 |
4.93852E-5 |
40498 |
0 |
4.13285E-5 |
12-47471304-C-T
|
p.Glu494Glu |
synonymous |
AMIGO2 |
711 |
80986 |
0.00877929 |
40493 |
15 |
0.0158341 |
12-47471306-C-T
|
p.Glu494Lys |
missense |
AMIGO2 |
1 |
80990 |
1.23472E-5 |
40495 |
0 |
8.26255E-6 |
12-47471322-G-C
|
p.Ser488Arg |
missense |
AMIGO2 |
1 |
80994 |
1.23466E-5 |
40497 |
0 |
NA |
12-47471328-A-G
|
p.Phe486Phe |
synonymous |
AMIGO2 |
1 |
81002 |
1.23454E-5 |
40501 |
0 |
1.65057E-5 |
12-47471341-T-C
|
p.Lys482Arg |
missense |
AMIGO2 |
1 |
81008 |
1.23445E-5 |
40504 |
0 |
3.18451E-5 |
12-47471344-CCGT-C
|
p.Asn480_Gly481delinsArg |
disruptive_inframe_deletion |
AMIGO2 |
1 |
81002 |
1.23454E-5 |
40501 |
0 |
3.1839E-5 |
12-47471346-G-A
|
p.Asn480Asn |
synonymous |
AMIGO2 |
3 |
81008 |
3.70334E-5 |
40504 |
0 |
4.95033E-5 |
12-47471357-C-T
|
p.Ala477Thr |
missense |
AMIGO2 |
1 |
81014 |
1.23435E-5 |
40507 |
0 |
9.55171E-5 |
12-47471393-T-G
|
p.Arg465Arg |
synonymous |
AMIGO2 |
1678 |
81054 |
0.0207022 |
40527 |
31 |
0.0227374 |
12-47471396-T-C
|
p.Lys464Glu |
missense |
AMIGO2 |
1 |
81074 |
1.23344E-5 |
40537 |
0 |
3.97659E-6 |
12-47471406-T-C
|
p.Ala460Ala |
synonymous |
AMIGO2 |
23 |
81076 |
2.83684E-4 |
40538 |
0 |
1.74971E-4 |
12-47471416-T-C
|
p.Glu457Gly |
missense |
AMIGO2 |
2 |
81090 |
2.4664E-5 |
40545 |
0 |
NA |
12-47471420-C-A
|
p.Asp456Tyr |
missense |
AMIGO2 |
1 |
81090 |
1.2332E-5 |
40545 |
0 |
8.23696E-6 |
12-47471423-C-T
|
p.Ala455Thr |
missense |
AMIGO2 |
2 |
81086 |
2.46652E-5 |
40543 |
0 |
2.47105E-5 |
12-47471431-T-C
|
p.Asp452Gly |
missense |
AMIGO2 |
2 |
81098 |
2.46615E-5 |
40549 |
0 |
1.98823E-5 |
12-47471439-G-A
|
p.Pro449Pro |
synonymous |
AMIGO2 |
23599 |
80944 |
0.291547 |
40472 |
3618 |
0.320625 |
12-47471439-G-C
|
p.Pro449Pro |
synonymous |
AMIGO2 |
1 |
81096 |
1.23311E-5 |
40548 |
0 |
NA |
12-47471447-G-A
|
p.Pro447Ser |
missense |
AMIGO2 |
2 |
81096 |
2.46621E-5 |
40548 |
0 |
NA |
12-47471457-C-T
|
p.Ser443Ser |
synonymous |
AMIGO2 |
1 |
81094 |
1.23314E-5 |
40547 |
0 |
6.25E-4 |
12-47471465-G-T
|
p.His441Asn |
missense |
AMIGO2 |
2 |
81094 |
2.46627E-5 |
40547 |
0 |
3.97621E-5 |
12-47471466-G-A
|
p.Ala440Ala |
synonymous |
AMIGO2 |
4 |
81094 |
4.93255E-5 |
40547 |
0 |
3.1835E-5 |
12-47471477-G-T
|
p.Gln437Lys |
missense |
AMIGO2 |
1 |
81094 |
1.23314E-5 |
40547 |
0 |
3.1839E-5 |
12-47471483-G-A
|
p.Leu435Leu |
synonymous |
AMIGO2 |
1 |
81092 |
1.23317E-5 |
40546 |
0 |
NA |
12-47471485-A-G
|
p.Met434Thr |
missense |
AMIGO2 |
2 |
81094 |
2.46627E-5 |
40547 |
0 |
NA |
12-47471497-C-G
|
p.Arg430Thr |
missense |
AMIGO2 |
1 |
81084 |
1.23329E-5 |
40542 |
0 |
NA |
12-47471511-C-T
|
p.Lys425Lys |
synonymous |
AMIGO2 |
3 |
81078 |
3.70014E-5 |
40539 |
0 |
3.1837E-5 |
12-47471518-G-A
|
p.Pro423Leu |
missense |
AMIGO2 |
2 |
81076 |
2.46682E-5 |
40538 |
0 |
2.4719E-5 |
12-47471541-C-T
|
p.Leu415Leu |
synonymous |
AMIGO2 |
2 |
81042 |
2.46786E-5 |
40521 |
0 |
3.1839E-5 |
12-47471547-T-A
|
p.Val413Val |
synonymous |
AMIGO2 |
1 |
81046 |
1.23387E-5 |
40523 |
0 |
1.59101E-5 |
12-47471555-C-G
|
p.Val411Leu |
missense |
AMIGO2 |
51 |
81048 |
6.29257E-4 |
40524 |
0 |
0.00241083 |
12-47471556-G-C
|
p.Ile410Met |
missense |
AMIGO2 |
1 |
81048 |
1.23384E-5 |
40524 |
0 |
NA |
12-47471562-G-A
|
p.Ala408Ala |
synonymous |
AMIGO2 |
1 |
81050 |
1.23381E-5 |
40525 |
0 |
NA |
12-47471567-C-T
|
p.Val407Met |
missense |
AMIGO2 |
2 |
81054 |
2.46749E-5 |
40527 |
0 |
2.47664E-5 |
12-47471569-C-T
|
p.Cys406Tyr |
missense |
AMIGO2 |
1 |
81052 |
1.23378E-5 |
40526 |
0 |
NA |
12-47471576-C-G
|
p.Ala404Pro |
missense |
AMIGO2 |
1 |
81064 |
1.23359E-5 |
40532 |
0 |
NA |
12-47471609-G-A
|
p.His393Tyr |
missense |
AMIGO2 |
20 |
81078 |
2.46676E-4 |
40539 |
0 |
4.77677E-4 |
12-47471613-A-G
|
p.His391His |
synonymous |
AMIGO2 |
3 |
81080 |
3.70005E-5 |
40540 |
0 |
NA |
12-47471614-T-C
|
p.His391Arg |
missense |
AMIGO2 |
1 |
81074 |
1.23344E-5 |
40537 |
0 |
NA |
12-47471616-G-A
|
p.Ser390Ser |
synonymous |
AMIGO2 |
1 |
81076 |
1.23341E-5 |
40538 |
0 |
NA |
12-47471618-A-C
|
p.Ser390Ala |
missense |
AMIGO2 |
2 |
81074 |
2.46688E-5 |
40537 |
0 |
NA |
12-47471627-C-T
|
p.Val387Ile |
missense |
AMIGO2 |
17 |
81068 |
2.09701E-4 |
40534 |
0 |
2.47162E-5 |
12-47471630-T-A
|
p.Thr386Ser |
missense |
AMIGO2 |
1 |
81068 |
1.23353E-5 |
40534 |
0 |
3.97668E-6 |
12-47471632-A-T
|
p.Phe385Tyr |
missense |
AMIGO2 |
2 |
81068 |
2.46706E-5 |
40534 |
0 |
4.11909E-5 |
12-47471654-C-G
|
p.Val378Leu |
missense |
AMIGO2 |
2 |
81070 |
2.467E-5 |
40535 |
0 |
2.47105E-5 |
12-47471667-A-G
|
p.Asn373Asn |
synonymous |
AMIGO2 |
3 |
81074 |
3.70032E-5 |
40537 |
0 |
1.19305E-5 |
12-47471677-C-T
|
p.Arg370His |
missense |
AMIGO2 |
9 |
81060 |
1.11029E-4 |
40530 |
0 |
6.36862E-5 |
12-47471678-G-A
|
p.Arg370Cys |
missense |
AMIGO2 |
1 |
81060 |
1.23365E-5 |
40530 |
0 |
NA |
12-47471679-T-C
|
p.Gln369Gln |
synonymous |
AMIGO2 |
5 |
81064 |
6.16797E-5 |
40532 |
0 |
8.23655E-6 |
12-47471683-T-C
|
p.Lys368Arg |
missense |
AMIGO2 |
1 |
81066 |
1.23356E-5 |
40533 |
0 |
NA |
12-47471707-A-G
|
p.Val360Ala |
missense |
AMIGO2 |
1 |
81042 |
1.23393E-5 |
40521 |
0 |
NA |
12-47471722-A-G
|
p.Phe355Ser |
missense |
AMIGO2 |
4 |
81030 |
4.93644E-5 |
40515 |
0 |
3.1839E-5 |
12-47471722-A-C
|
p.Phe355Cys |
missense |
AMIGO2 |
1 |
81030 |
1.23411E-5 |
40515 |
0 |
NA |
12-47471776-A-G
|
p.Met337Thr |
missense |
AMIGO2 |
2 |
81046 |
2.46773E-5 |
40523 |
0 |
3.18471E-5 |
12-47471783-T-C
|
p.Lys335Glu |
missense |
AMIGO2 |
1 |
81056 |
1.23371E-5 |
40528 |
0 |
3.9801E-6 |
12-47471785-T-C
|
p.Asp334Gly |
missense |
AMIGO2 |
1 |
81068 |
1.23353E-5 |
40534 |
0 |
3.97994E-6 |
12-47471805-A-T
|
p.Asp327Glu |
missense |
AMIGO2 |
1 |
81082 |
1.23332E-5 |
40541 |
0 |
3.97867E-6 |
12-47471812-C-T
|
p.Gly325Asp |
missense |
AMIGO2 |
1 |
81092 |
1.23317E-5 |
40546 |
0 |
8.23669E-6 |
12-47471816-C-T
|
p.Val324Met |
missense |
AMIGO2 |
1 |
81090 |
1.2332E-5 |
40545 |
0 |
1.64737E-5 |
12-47471820-G-A
|
p.Ile322Ile |
synonymous |
AMIGO2 |
2 |
81090 |
2.4664E-5 |
40545 |
0 |
1.59123E-5 |
12-47471823-G-T
|
p.Phe321Leu |
missense |
AMIGO2 |
1 |
81094 |
1.23314E-5 |
40547 |
0 |
NA |
12-47471829-C-T
|
p.Thr319Thr |
synonymous |
AMIGO2 |
1 |
81102 |
1.23302E-5 |
40551 |
0 |
5.76559E-5 |
12-47471879-C-T
|
p.Gly303Arg |
missense |
AMIGO2 |
1 |
81102 |
1.23302E-5 |
40551 |
0 |
NA |
12-47471891-C-G
|
p.Glu299Gln |
missense |
AMIGO2 |
1 |
81104 |
1.23298E-5 |
40552 |
0 |
NA |
12-47471894-G-T
|
p.His298Asn |
missense |
AMIGO2 |
1 |
81100 |
1.23305E-5 |
40550 |
0 |
NA |
12-47471904-A-C
|
p.Leu294Leu |
synonymous |
AMIGO2 |
1 |
81080 |
1.23335E-5 |
40540 |
0 |
1.64731E-5 |
12-47471908-G-A
|
p.Ala293Val |
missense |
AMIGO2 |
1 |
81078 |
1.23338E-5 |
40539 |
0 |
NA |
12-47471911-C-T
|
p.Arg292His |
missense |
AMIGO2 |
1 |
81080 |
1.23335E-5 |
40540 |
0 |
3.70645E-4 |
12-47471911-C-A
|
p.Arg292Leu |
missense |
AMIGO2 |
1 |
81080 |
1.23335E-5 |
40540 |
0 |
3.97643E-6 |
12-47471915-A-G
|
p.Phe291Leu |
missense |
AMIGO2 |
1 |
81078 |
1.23338E-5 |
40539 |
0 |
2.47097E-5 |
12-47471917-G-T
|
p.Ser290Tyr |
missense |
AMIGO2 |
10 |
81072 |
1.23347E-4 |
40536 |
0 |
0.00100705 |
12-47471923-T-C
|
p.Asn288Ser |
missense |
AMIGO2 |
2 |
81066 |
2.46713E-5 |
40533 |
0 |
3.18512E-5 |
12-47471932-CT-AG
|
p.Ser285Leu |
missense |
AMIGO2 |
2 |
81060 |
2.46731E-5 |
40530 |
0 |
NA |
12-47471934-G-A
|
p.Asp284Asp |
synonymous |
AMIGO2 |
1 |
81060 |
1.23365E-5 |
40530 |
0 |
NA |
12-47471947-A-C
|
p.Met280Arg |
missense |
AMIGO2 |
1 |
81044 |
1.2339E-5 |
40522 |
0 |
3.97662E-6 |
12-47471954-T-C
|
p.Ser278Gly |
missense |
AMIGO2 |
1 |
81028 |
1.23414E-5 |
40514 |
0 |
3.18127E-5 |
12-47471957-C-T
|
p.Asp277Asn |
missense |
AMIGO2 |
34 |
81030 |
4.19598E-4 |
40515 |
1 |
0.00125 |
12-47471960-G-T
|
p.Gln276Lys |
missense |
AMIGO2 |
1 |
81024 |
1.2342E-5 |
40512 |
0 |
NA |
12-47471968-A-C
|
p.Leu273Arg |
missense |
AMIGO2 |
7 |
81004 |
8.64155E-5 |
40502 |
0 |
4.8517E-4 |
12-47471972-C-T
|
p.Val272Ile |
missense |
AMIGO2 |
2 |
80986 |
2.46956E-5 |
40493 |
0 |
NA |
12-47471978-G-T
|
p.Arg270Ser |
missense |
AMIGO2 |
2 |
80976 |
2.46987E-5 |
40488 |
0 |
1.19318E-5 |
12-47471980-G-A
|
p.Ser269Leu |
missense |
AMIGO2 |
39 |
80968 |
4.81672E-4 |
40484 |
0 |
5.03525E-4 |
12-47471990-A-G
|
p.Ser266Pro |
missense |
AMIGO2 |
5 |
80956 |
6.17619E-5 |
40478 |
0 |
6.3678E-5 |
12-47471999-A-G
|
p.Trp263Arg |
missense |
AMIGO2 |
3 |
80968 |
3.70517E-5 |
40484 |
0 |
3.18512E-5 |
12-47472005-G-T
|
p.Arg261Ser |
missense |
AMIGO2 |
3 |
80944 |
3.70627E-5 |
40472 |
0 |
8.24253E-6 |
12-47472052-C-G
|
p.Arg245Pro |
missense |
AMIGO2 |
1 |
80878 |
1.23643E-5 |
40439 |
0 |
NA |
12-47472053-G-C
|
p.Arg245Gly |
missense |
AMIGO2 |
1 |
80876 |
1.23646E-5 |
40438 |
0 |
4.77688E-5 |
12-47472068-G-C
|
p.Leu240Val |
missense |
AMIGO2 |
1 |
80866 |
1.23661E-5 |
40433 |
0 |
2.47549E-5 |
12-47472081-G-T
|
p.Ser235Ser |
synonymous |
AMIGO2 |
1 |
80850 |
1.23686E-5 |
40425 |
0 |
NA |
12-47472083-A-C
|
p.Ser235Ala |
missense |
AMIGO2 |
1 |
80852 |
1.23683E-5 |
40426 |
0 |
8.2526E-6 |
12-47472093-G-A
|
p.Val231Val |
synonymous |
AMIGO2 |
4 |
80868 |
4.94633E-5 |
40434 |
0 |
6.25E-4 |
12-47472094-A-G
|
p.Val231Ala |
missense |
AMIGO2 |
2 |
80860 |
2.47341E-5 |
40430 |
0 |
NA |
12-47472114-G-A
|
p.Tyr224Tyr |
synonymous |
AMIGO2 |
1 |
80920 |
1.23579E-5 |
40460 |
0 |
1.19544E-5 |
12-47472137-C-T
|
p.Gly217Arg |
missense |
AMIGO2 |
1 |
80932 |
1.23561E-5 |
40466 |
0 |
3.98422E-6 |
12-47472139-G-A
|
p.Pro216Leu |
missense |
AMIGO2 |
5 |
80930 |
6.17818E-5 |
40465 |
0 |
4.13114E-5 |
12-47472156-G-C
|
p.His210Gln |
missense |
AMIGO2 |
5 |
80886 |
6.18154E-5 |
40443 |
0 |
5.03525E-4 |
12-47472178-C-T
|
p.Arg203Gln |
missense |
AMIGO2 |
2 |
80840 |
2.47402E-5 |
40420 |
0 |
NA |
12-47472179-G-C
|
p.Arg203Gly |
missense |
AMIGO2 |
2 |
80836 |
2.47415E-5 |
40418 |
0 |
6.37227E-5 |
12-47472184-T-C
|
p.Tyr201Cys |
missense |
AMIGO2 |
1 |
80850 |
1.23686E-5 |
40425 |
0 |
8.2672E-6 |
12-47472214-A-G
|
p.Leu191Pro |
missense |
AMIGO2 |
1 |
80888 |
1.23628E-5 |
40444 |
0 |
3.97988E-6 |
12-47472223-C-T
|
p.Arg188Lys |
missense |
AMIGO2 |
1 |
80930 |
1.23564E-5 |
40465 |
0 |
NA |
12-47472224-T-C
|
p.Arg188Gly |
missense |
AMIGO2 |
1 |
80938 |
1.23551E-5 |
40469 |
0 |
9.55231E-5 |
12-47472226-C-A
|
p.Gly187Val |
missense |
AMIGO2 |
1 |
80942 |
1.23545E-5 |
40471 |
0 |
NA |
12-47472234-C-T
|
p.Leu184Leu |
synonymous |
AMIGO2 |
1 |
80964 |
1.23512E-5 |
40482 |
0 |
NA |
12-47472241-A-G
|
p.Met182Thr |
missense |
AMIGO2 |
1 |
80970 |
1.23503E-5 |
40485 |
0 |
1.65199E-5 |
12-47472243-C-T
|
p.Pro181Pro |
synonymous |
AMIGO2 |
3 |
80972 |
3.70498E-5 |
40486 |
0 |
1.65202E-5 |
12-47472246-A-C
|
p.Phe180Leu |
missense |
AMIGO2 |
1 |
80986 |
1.23478E-5 |
40493 |
0 |
NA |
12-47472257-G-C
|
p.Leu177Val |
missense |
AMIGO2 |
2 |
81004 |
2.46901E-5 |
40502 |
0 |
NA |
12-47472259-A-G
|
p.Phe176Ser |
missense |
AMIGO2 |
2 |
81002 |
2.46907E-5 |
40501 |
0 |
NA |
12-47472260-A-T
|
p.Phe176Ile |
missense |
AMIGO2 |
1 |
81004 |
1.23451E-5 |
40502 |
0 |
4.12773E-5 |
12-47472306-C-A
|
p.Ala160Ala |
synonymous |
AMIGO2 |
1 |
81034 |
1.23405E-5 |
40517 |
0 |
NA |
12-47472318-G-C
|
p.Leu156Leu |
synonymous |
AMIGO2 |
1 |
81044 |
1.2339E-5 |
40522 |
0 |
NA |
12-47472326-A-G
|
p.Ser154Pro |
missense |
AMIGO2 |
1 |
81036 |
1.23402E-5 |
40518 |
0 |
NA |
12-47472333-A-G
|
p.Asn151Asn |
synonymous |
AMIGO2 |
1 |
81040 |
1.23396E-5 |
40520 |
0 |
NA |
12-47472351-C-T
|
p.Val145Val |
synonymous |
AMIGO2 |
19 |
81044 |
2.34441E-4 |
40522 |
0 |
1.07366E-4 |
12-47472380-C-A
|
p.Val136Leu |
missense |
AMIGO2 |
2 |
81062 |
2.46725E-5 |
40531 |
0 |
3.9763E-6 |
12-47472420-A-G
|
p.Leu122Leu |
synonymous |
AMIGO2 |
1 |
81086 |
1.23326E-5 |
40543 |
0 |
3.1837E-5 |
12-47472434-T-G
|
p.Asn118His |
missense |
AMIGO2 |
1 |
81094 |
1.23314E-5 |
40547 |
0 |
3.18573E-5 |
12-47472436-G-A
|
p.Pro117Leu |
missense |
AMIGO2 |
1 |
81094 |
1.23314E-5 |
40547 |
0 |
NA |
12-47472437-G-C
|
p.Pro117Ala |
missense |
AMIGO2 |
4 |
81094 |
4.93255E-5 |
40547 |
0 |
NA |
12-47472443-T-C
|
p.Thr115Ala |
missense |
AMIGO2 |
1 |
81092 |
1.23317E-5 |
40546 |
0 |
NA |
12-47472454-C-T
|
p.Gly111Asp |
missense |
AMIGO2 |
4 |
81096 |
4.93243E-5 |
40548 |
0 |
8.23669E-6 |
12-47472482-G-A
|
p.His102Tyr |
missense |
AMIGO2 |
1 |
81100 |
1.23305E-5 |
40550 |
0 |
NA |
12-47472483-A-G
|
p.Arg101Arg |
synonymous |
AMIGO2 |
3 |
81094 |
3.69941E-5 |
40547 |
0 |
NA |
12-47472501-C-T
|
p.Leu95Leu |
synonymous |
AMIGO2 |
2 |
81094 |
2.46627E-5 |
40547 |
0 |
6.36862E-5 |
12-47472525-C-A
|
p.Trp87Cys |
missense |
AMIGO2 |
1 |
81102 |
1.23302E-5 |
40551 |
0 |
3.29468E-5 |
12-47472528-C-T
|
p.Glu86Glu |
synonymous |
AMIGO2 |
2 |
81100 |
2.46609E-5 |
40550 |
0 |
8.23683E-6 |
12-47472531-A-G
|
p.Ser85Ser |
synonymous |
AMIGO2 |
5 |
81096 |
6.16553E-5 |
40548 |
0 |
5.76568E-5 |
12-47472532-G-C
|
p.Ser85Cys |
missense |
AMIGO2 |
1 |
81094 |
1.23314E-5 |
40547 |
0 |
NA |
12-47472533-A-G
|
p.Ser85Pro |
missense |
AMIGO2 |
1 |
81094 |
1.23314E-5 |
40547 |
0 |
3.1835E-5 |
12-47472539-G-A
|
p.Leu83Leu |
synonymous |
AMIGO2 |
1 |
81092 |
1.23317E-5 |
40546 |
0 |
6.25E-4 |
12-47472546-A-C
|
p.Ile80Met |
missense |
AMIGO2 |
1 |
81096 |
1.23311E-5 |
40548 |
0 |
3.97621E-6 |
12-47472555-A-G
|
p.Tyr77Tyr |
synonymous |
AMIGO2 |
5 |
81092 |
6.16584E-5 |
40546 |
0 |
6.75966E-5 |
12-47472558-A-C
|
p.Ser76Arg |
missense |
AMIGO2 |
1 |
81094 |
1.23314E-5 |
40547 |
0 |
NA |
12-47472572-T-C
|
p.Arg72Gly |
missense |
AMIGO2 |
1 |
81088 |
1.23323E-5 |
40544 |
0 |
NA |
12-47472576-A-C
|
p.Ile70Met |
missense |
AMIGO2 |
1 |
81084 |
1.23329E-5 |
40542 |
0 |
3.97621E-6 |
12-47472588-A-G
|
p.Leu66Leu |
synonymous |
AMIGO2 |
1 |
81082 |
1.23332E-5 |
40541 |
0 |
3.9763E-6 |
12-47472594-C-T
|
p.Gly64Gly |
synonymous |
AMIGO2 |
2 |
81082 |
2.46664E-5 |
40541 |
0 |
NA |
12-47472597-A-G
|
p.Pro63Pro |
synonymous |
AMIGO2 |
2 |
81082 |
2.46664E-5 |
40541 |
0 |
1.1929E-5 |
12-47472602-C-T
|
p.Val62Met |
missense |
AMIGO2 |
1 |
81074 |
1.23344E-5 |
40537 |
0 |
8.2371E-6 |
12-47472605-T-C
|
p.Lys61Glu |
missense |
AMIGO2 |
3 |
81074 |
3.70032E-5 |
40537 |
0 |
3.29489E-5 |
12-47472619-T-G
|
p.Asn56Thr |
missense |
AMIGO2 |
1 |
81052 |
1.23378E-5 |
40526 |
0 |
NA |
12-47472635-T-G
|
p.Ile51Leu |
missense |
AMIGO2 |
1 |
81018 |
1.23429E-5 |
40509 |
0 |
8.23913E-6 |
12-47472642-G-C
|
p.Ala48Ala |
synonymous |
AMIGO2 |
1 |
80986 |
1.23478E-5 |
40493 |
0 |
3.29625E-5 |
12-47472651-G-C
|
p.Cys45Trp |
missense |
AMIGO2 |
1 |
80964 |
1.23512E-5 |
40482 |
0 |
NA |
12-47472655-G-C
|
p.Ala44Gly |
missense |
AMIGO2 |
1 |
80920 |
1.23579E-5 |
40460 |
0 |
NA |
12-47472669-C-T
|
p.Gly39Gly |
synonymous |
AMIGO2 |
17 |
80824 |
2.10334E-4 |
40412 |
0 |
9.55901E-5 |
12-47472675-G-A
|
p.Ala37Ala |
synonymous |
AMIGO2 |
1 |
80776 |
1.23799E-5 |
40388 |
0 |
NA |
12-47472683-G-C
|
p.Pro35Ala |
missense |
AMIGO2 |
5 |
80664 |
6.19855E-5 |
40332 |
0 |
3.30142E-5 |
12-47472690-A-C
|
p.Thr32Thr |
synonymous |
AMIGO2 |
1 |
80614 |
1.24048E-5 |
40307 |
0 |
NA |
12-47472693-C-T
|
p.Val31Val |
synonymous |
AMIGO2 |
1683 |
80540 |
0.0208964 |
40270 |
77 |
0.0413186 |
12-47472695-C-T
|
p.Val31Met |
missense |
AMIGO2 |
6 |
80562 |
7.44768E-5 |
40281 |
0 |
3.96596E-4 |
12-47472701-T-C
|
p.Ile29Val |
missense |
AMIGO2 |
52 |
80522 |
6.45786E-4 |
40261 |
0 |
3.02336E-4 |
12-47472704-T-C
|
p.Met28Val |
missense |
AMIGO2 |
1 |
80476 |
1.24261E-5 |
40238 |
0 |
NA |
12-47472707-G-A
|
p.Leu27Leu |
synonymous |
AMIGO2 |
3 |
80426 |
3.73014E-5 |
40213 |
0 |
NA |
12-47472718-A-G
|
p.Leu23Pro |
missense |
AMIGO2 |
1 |
80296 |
1.24539E-5 |
40148 |
0 |
NA |
12-47472722-C-G
|
p.Glu22Gln |
missense |
AMIGO2 |
1 |
80220 |
1.24657E-5 |
40110 |
0 |
1.66489E-5 |
12-47472726-G-A
|
p.Cys20Cys |
synonymous |
AMIGO2 |
6 |
80148 |
7.48615E-5 |
40074 |
0 |
7.97181E-6 |
12-47472728-A-C
|
p.Cys20Gly |
missense |
AMIGO2 |
1 |
80110 |
1.24828E-5 |
40055 |
0 |
NA |
12-47472731-C-T
|
p.Gly19Ser |
missense |
AMIGO2 |
1 |
80076 |
1.24881E-5 |
40038 |
0 |
3.3456E-5 |
12-47472744-G-A
|
p.Ala14Ala |
synonymous |
AMIGO2 |
9 |
79910 |
1.12627E-4 |
39955 |
0 |
4.00035E-6 |
12-47472751-A-G
|
p.Leu12Pro |
missense |
AMIGO2 |
4 |
79902 |
5.00613E-5 |
39951 |
0 |
NA |
12-47472752-G-A
|
p.Leu12Phe |
missense |
AMIGO2 |
7 |
79886 |
8.76249E-5 |
39943 |
0 |
1.27453E-4 |
12-47472755-G-A
|
p.Leu11Leu |
synonymous |
AMIGO2 |
2 |
79852 |
2.50463E-5 |
39926 |
0 |
NA |
12-47472763-A-C
|
p.Leu8Arg |
missense |
AMIGO2 |
1 |
79740 |
1.25408E-5 |
39870 |
0 |
NA |
12-47472765-A-T
|
p.Thr7Thr |
synonymous |
AMIGO2 |
1 |
79738 |
1.25411E-5 |
39869 |
0 |
1.73313E-5 |
12-47472774-A-C
|
p.Arg4Arg |
synonymous |
AMIGO2 |
2 |
79678 |
2.5101E-5 |
39839 |
0 |
4.18932E-6 |
12-47472780-C-T
|
p.Ser2Ser |
synonymous |
AMIGO2 |
1 |
79606 |
1.25619E-5 |
39803 |
0 |
3.18634E-5 |
12-47472843-G-A
|
c.-58C>T |
5_prime_UTR_premature_start_codon_gain |
AMIGO2 |
1 |
78446 |
1.27476E-5 |
39223 |
0 |
NA |
12-47472846-AACCTGGCAAACAATTAATAATTCAGAGGGAGTAAAAAGCAGAAACTGACTACCACTAGTTAACCCATAAGAGCCAT-A
|
c.-63-74_-62delATGGCTCTTATGGGTTAACTAGTGGTAGTCAGTTTCTGCTTTTTACTCCCTCTGAATTATTAATTGTTTGCCAGGT |
splice_acceptor |
AMIGO2 |
6 |
78366 |
7.65638E-5 |
39183 |
0 |
NA |
12-47472848-C-CGGTG
|
c.-63-1_-63insCACC |
splice_acceptor |
AMIGO2 |
1 |
78324 |
1.27675E-5 |
39162 |
0 |
NA |
12-47472852-G-A
|
c.-63-4C>T |
splice_region |
AMIGO2 |
1 |
78160 |
1.27943E-5 |
39080 |
0 |
NA |
12-47472924-C-T
|
c.-64+1G>A |
splice_donor |
AMIGO2 |
1 |
73740 |
1.35612E-5 |
36870 |
0 |
NA |
12-47472925-C-A
|
c.-64G>T |
5_prime_UTR_premature_start_codon_gain |
AMIGO2 |
1 |
73414 |
1.36214E-5 |
36707 |
0 |
NA |
12-47472929-C-T
|
c.-64+1G>A |
splice_donor |
AMIGO2 |
3 |
72552 |
4.13497E-5 |
36276 |
0 |
NA |
12-47472970-T-C
|
c.-104A>G |
5_prime_UTR_premature_start_codon_gain |
AMIGO2 |
1 |
58944 |
1.69653E-5 |
29472 |
0 |
3.18492E-5 |
12-47473030-TCCTGCTTATAAAAATGTACAGTCACATTCTCTCCATACAACCCACCGTCTCACCCACCATCAGAAACTCAATTTTTTCCTAAGGTGCATCCTGCGTTGTTGTTGTTGTTGTTGTTGTTTTAAACTCCCTCCAACAGACACAACTATACGCAAACGTACGCTACAAACAATTAAACGGAAATACTTAGCAACCACCCATCCAGGAAAAAACTCA-T
|
c.-166+2_-165del |
splice_acceptor |
AMIGO2 |
2 |
25754 |
7.76578E-5 |
12877 |
0 |
NA |
12-47473039-T-A
|
c.-165-8A>T |
splice_region |
AMIGO2 |
1 |
21906 |
4.56496E-5 |
10953 |
0 |
1.27389E-4 |