17-15848294-C-T
|
c.-269C>T |
5_prime_UTR_premature_start_codon_gain |
ADORA2B |
1 |
10536 |
9.49127E-5 |
5268 |
0 |
9.63701E-5 |
17-15848469-C-T
|
c.-94C>T |
5_prime_UTR_premature_start_codon_gain |
ADORA2B |
2 |
53226 |
3.75756E-5 |
26613 |
0 |
NA |
17-15848517-C-T
|
c.-46C>T |
5_prime_UTR_premature_start_codon_gain |
ADORA2B |
2 |
69124 |
2.89335E-5 |
34562 |
0 |
1.26295E-4 |
17-15848542-C-T
|
c.-21C>T |
5_prime_UTR_premature_start_codon_gain |
ADORA2B |
3 |
73438 |
4.08508E-5 |
36719 |
0 |
0.00126743 |
17-15848585-C-A
|
p.Ala8Glu |
missense |
ADORA2B |
4 |
77622 |
5.15318E-5 |
38811 |
0 |
7.10985E-4 |
17-15848586-G-A
|
p.Ala8Ala |
synonymous |
ADORA2B |
4 |
77740 |
5.14536E-5 |
38870 |
0 |
6.38733E-5 |
17-15848588-T-C
|
p.Leu9Pro |
missense |
ADORA2B |
17 |
77926 |
2.18156E-4 |
38963 |
0 |
3.05904E-4 |
17-15848592-C-T
|
p.Tyr10Tyr |
synonymous |
ADORA2B |
1 |
78070 |
1.2809E-5 |
39035 |
0 |
7.14102E-6 |
17-15848598-G-T
|
p.Ala12Ala |
synonymous |
ADORA2B |
962 |
78232 |
0.0122968 |
39116 |
29 |
0.0378803 |
17-15848608-G-C
|
p.Val16Leu |
missense |
ADORA2B |
2 |
78686 |
2.54175E-5 |
39343 |
0 |
NA |
17-15848626-G-C
|
p.Val22Leu |
missense |
ADORA2B |
2 |
78970 |
2.53261E-5 |
39485 |
0 |
3.18878E-5 |
17-15848631-G-T
|
p.Ala23Ala |
synonymous |
ADORA2B |
3 |
78992 |
3.79785E-5 |
39496 |
0 |
NA |
17-15848633-G-A
|
p.Gly24Asp |
missense |
ADORA2B |
1 |
79008 |
1.26569E-5 |
39504 |
0 |
9.36198E-6 |
17-15848637-C-T
|
p.Asn25Asn |
synonymous |
ADORA2B |
975 |
79040 |
0.0123355 |
39520 |
35 |
0.0221081 |
17-15848650-G-A
|
p.Ala30Thr |
missense |
ADORA2B |
1 |
79236 |
1.26205E-5 |
39618 |
0 |
6.37836E-5 |
17-15848651-C-T
|
p.Ala30Val |
missense |
ADORA2B |
1 |
79230 |
1.26215E-5 |
39615 |
0 |
3.38021E-5 |
17-15848666-C-T
|
p.Ala35Val |
missense |
ADORA2B |
257 |
79470 |
0.00323392 |
39735 |
3 |
0.00590036 |
17-15848671-A-T
|
p.Thr37Ser |
missense |
ADORA2B |
3 |
79650 |
3.76648E-5 |
39825 |
0 |
2.12707E-4 |
17-15848672-C-T
|
p.Thr37Ile |
missense |
ADORA2B |
5 |
79692 |
6.27416E-5 |
39846 |
0 |
NA |
17-15848673-T-C
|
p.Thr37Thr |
synonymous |
ADORA2B |
107 |
79690 |
0.0013427 |
39845 |
1 |
0.00280612 |
17-15848682-G-A
|
p.Thr40Thr |
synonymous |
ADORA2B |
5 |
79696 |
6.27384E-5 |
39848 |
0 |
NA |
17-15848684-C-T
|
p.Pro41Leu |
missense |
ADORA2B |
1 |
79752 |
1.25389E-5 |
39876 |
0 |
NA |
17-15848690-A-C
|
p.Asn43Thr |
missense |
ADORA2B |
31 |
79884 |
3.88063E-4 |
39942 |
0 |
6.25E-4 |
17-15848690-A-G
|
p.Asn43Ser |
missense |
ADORA2B |
1 |
79886 |
1.25178E-5 |
39943 |
0 |
9.05945E-6 |
17-15848702-T-G
|
p.Val47Gly |
missense |
ADORA2B |
1 |
79944 |
1.25088E-5 |
39972 |
0 |
2.62646E-5 |
17-15848730-G-A
|
p.Val56Val |
synonymous |
ADORA2B |
1 |
79852 |
1.25232E-5 |
39926 |
0 |
6.37471E-5 |
17-15848747-C-T
|
p.Pro62Leu |
missense |
ADORA2B |
1 |
80012 |
1.24981E-5 |
40006 |
0 |
8.49964E-6 |
17-15848748-C-T
|
p.Pro62Pro |
synonymous |
ADORA2B |
1 |
80016 |
1.24975E-5 |
40008 |
0 |
3.99326E-6 |
17-15848759-C-T
|
p.Thr66Ile |
missense |
ADORA2B |
4 |
79992 |
5.0005E-5 |
39996 |
0 |
3.18552E-5 |
17-15848767-C-CT
|
p.Phe71fs |
frameshift |
ADORA2B |
1 |
79930 |
1.25109E-5 |
39965 |
0 |
NA |
17-15848777-G-A
|
p.Cys72Tyr |
missense |
ADORA2B |
4 |
79858 |
5.00889E-5 |
39929 |
0 |
0.0020141 |
17-15848780-C-T
|
p.Thr73Ile |
missense |
ADORA2B |
2 |
79884 |
2.50363E-5 |
39942 |
0 |
8.0116E-6 |
17-15848799-C-G
|
p.Leu79Leu |
synonymous |
ADORA2B |
12 |
79842 |
1.50297E-4 |
39921 |
0 |
9.65577E-5 |
17-15848802-C-T
|
p.Phe80Phe |
synonymous |
ADORA2B |
4 |
79800 |
5.01253E-5 |
39900 |
0 |
1.91107E-4 |
17-15848805-C-T
|
p.Leu81Leu |
synonymous |
ADORA2B |
1 |
79812 |
1.25294E-5 |
39906 |
0 |
6.25E-4 |
17-15848815-G-A
|
p.Val85Met |
missense |
ADORA2B |
1 |
79728 |
1.25426E-5 |
39864 |
0 |
3.18735E-5 |
17-15848829-G-A
|
p.Thr89Thr |
synonymous |
ADORA2B |
1 |
79530 |
1.25739E-5 |
39765 |
0 |
NA |
17-15848830-C-T
|
p.Gln90* |
stop_gained |
ADORA2B |
2 |
79528 |
2.51484E-5 |
39764 |
0 |
NA |
17-15848832-G-C
|
p.Gln90His |
missense |
ADORA2B |
11 |
79520 |
1.3833E-4 |
39760 |
0 |
7.05078E-5 |
17-15848839-A-G
|
p.Ile93Val |
missense |
ADORA2B |
1 |
79402 |
1.25941E-5 |
39701 |
0 |
4.19681E-6 |
17-15848848-C-T
|
p.Leu96Phe |
missense |
ADORA2B |
30 |
79118 |
3.7918E-4 |
39559 |
0 |
6.90739E-4 |
17-15848856-C-T
|
p.Ala98Ala |
synonymous |
ADORA2B |
1 |
78680 |
1.27097E-5 |
39340 |
0 |
1.36262E-5 |
17-15848874-C-G
|
p.Tyr104* |
stop_gained |
ADORA2B |
2 |
77224 |
2.58987E-5 |
38612 |
0 |
3.75968E-5 |
17-15848898-G-T
|
c.335+1G>T |
splice_donor |
ADORA2B |
1 |
73398 |
1.36243E-5 |
36699 |
0 |
NA |
17-15878003-T-C
|
p.Leu116Leu |
synonymous |
ADORA2B |
1 |
81080 |
1.23335E-5 |
40540 |
0 |
8.33444E-6 |
17-15878011-G-A
|
p.Thr118Thr |
synonymous |
ADORA2B |
134 |
81078 |
0.00165273 |
40539 |
0 |
0.00446172 |
17-15878012-G-C
|
p.Gly119Arg |
missense |
ADORA2B |
2 |
81086 |
2.46652E-5 |
40543 |
0 |
3.18492E-5 |
17-15878018-C-T
|
p.Arg121* |
stop_gained |
ADORA2B |
3 |
81092 |
3.6995E-5 |
40546 |
0 |
6.60044E-5 |
17-15878019-G-A
|
p.Arg121Gln |
missense |
ADORA2B |
2 |
81090 |
2.4664E-5 |
40545 |
0 |
1.64973E-5 |
17-15878034-T-C
|
p.Ile126Thr |
missense |
ADORA2B |
3 |
81094 |
3.69941E-5 |
40547 |
0 |
2.47219E-5 |
17-15878038-T-A
|
p.Ala127Ala |
synonymous |
ADORA2B |
1 |
81098 |
1.23308E-5 |
40549 |
0 |
8.24022E-6 |
17-15878053-T-C
|
p.Leu132Leu |
synonymous |
ADORA2B |
1 |
81100 |
1.23305E-5 |
40550 |
0 |
NA |
17-15878063-A-T
|
p.Ile136Phe |
missense |
ADORA2B |
1 |
81100 |
1.23305E-5 |
40550 |
0 |
8.23669E-6 |
17-15878066-G-A
|
p.Gly137Arg |
missense |
ADORA2B |
2 |
81102 |
2.46603E-5 |
40551 |
0 |
3.1841E-5 |
17-15878069-T-C
|
p.Leu138Leu |
synonymous |
ADORA2B |
1 |
81100 |
1.23305E-5 |
40550 |
0 |
NA |
17-15878087-TG-T
|
p.Trp144fs |
frameshift |
ADORA2B |
2 |
81096 |
2.46621E-5 |
40548 |
0 |
1.59055E-5 |
17-15878098-AGAC-A
|
p.Asp148del |
conservative_inframe_deletion |
ADORA2B |
1 |
81098 |
1.23308E-5 |
40549 |
0 |
NA |
17-15878099-G-C
|
p.Asp148His |
missense |
ADORA2B |
2 |
81098 |
2.46615E-5 |
40549 |
0 |
NA |
17-15878107-C-T
|
p.Ala150Ala |
synonymous |
ADORA2B |
1 |
81102 |
1.23302E-5 |
40551 |
0 |
NA |
17-15878109-CCAA-C
|
p.Asn153del |
conservative_inframe_deletion |
ADORA2B |
3316 |
81054 |
0.040911 |
40527 |
77 |
0.051863 |
17-15878112-A-C
|
p.Asn152Thr |
missense |
ADORA2B |
4 |
80926 |
4.94279E-5 |
40463 |
0 |
8.42517E-6 |
17-15878120-A-C
|
p.Thr155Pro |
missense |
ADORA2B |
1 |
81100 |
1.23305E-5 |
40550 |
0 |
NA |
17-15878122-A-G
|
p.Thr155Thr |
synonymous |
ADORA2B |
1 |
81100 |
1.23305E-5 |
40550 |
0 |
NA |
17-15878142-C-T
|
p.Thr162Met |
missense |
ADORA2B |
3 |
81102 |
3.69905E-5 |
40551 |
0 |
5.03525E-4 |
17-15878143-G-A
|
p.Thr162Thr |
synonymous |
ADORA2B |
1 |
81102 |
1.23302E-5 |
40551 |
0 |
2.47113E-5 |
17-15878146-T-C
|
p.Asn163Asn |
synonymous |
ADORA2B |
1 |
81100 |
1.23305E-5 |
40550 |
0 |
NA |
17-15878155-C-T
|
p.Cys166Cys |
synonymous |
ADORA2B |
1 |
81100 |
1.23305E-5 |
40550 |
0 |
NA |
17-15878167-G-C
|
p.Lys170Asn |
missense |
ADORA2B |
3 |
81096 |
3.69932E-5 |
40548 |
0 |
3.18492E-5 |
17-15878172-T-C
|
p.Leu172Pro |
missense |
ADORA2B |
1 |
81102 |
1.23302E-5 |
40551 |
0 |
NA |
17-15878191-C-T
|
p.Pro178Pro |
synonymous |
ADORA2B |
1 |
81094 |
1.23314E-5 |
40547 |
0 |
8.23764E-6 |
17-15878193-T-C
|
p.Met179Thr |
missense |
ADORA2B |
1 |
81092 |
1.23317E-5 |
40546 |
0 |
NA |
17-15878195-AG-A
|
p.Ser180fs |
frameshift |
ADORA2B |
1 |
81090 |
1.2332E-5 |
40545 |
0 |
NA |
17-15878198-T-C
|
p.Tyr181His |
missense |
ADORA2B |
1 |
81092 |
1.23317E-5 |
40546 |
0 |
NA |
17-15878200-CATGGTAT-C
|
p.Met182fs |
frameshift |
ADORA2B |
1 |
81086 |
1.23326E-5 |
40543 |
0 |
NA |
17-15878201-A-G
|
p.Met182Val |
missense |
ADORA2B |
1 |
81092 |
1.23317E-5 |
40546 |
0 |
2.47121E-5 |
17-15878206-A-G
|
p.Val183Val |
synonymous |
ADORA2B |
3 |
81086 |
3.69978E-5 |
40543 |
0 |
1.27437E-4 |
17-15878223-G-T
|
p.Gly189Val |
missense |
ADORA2B |
1 |
81078 |
1.23338E-5 |
40539 |
0 |
NA |
17-15878223-GGT-G
|
p.Val191fs |
frameshift |
ADORA2B |
1 |
81078 |
1.23338E-5 |
40539 |
0 |
NA |
17-15878235-C-A
|
p.Pro193His |
missense |
ADORA2B |
1 |
81074 |
1.23344E-5 |
40537 |
0 |
8.23723E-6 |
17-15878243-C-CT
|
p.Ile197fs |
frameshift |
ADORA2B |
1 |
81072 |
1.23347E-5 |
40536 |
0 |
NA |
17-15878244-T-C
|
p.Leu196Pro |
missense |
ADORA2B |
1 |
81070 |
1.2335E-5 |
40535 |
0 |
NA |
17-15878247-T-C
|
p.Ile197Thr |
missense |
ADORA2B |
1 |
81064 |
1.23359E-5 |
40532 |
0 |
3.18471E-5 |
17-15878256-T-C
|
p.Val200Ala |
missense |
ADORA2B |
1 |
81070 |
1.2335E-5 |
40535 |
0 |
NA |
17-15878266-T-G
|
p.Ile203Met |
missense |
ADORA2B |
22 |
81066 |
2.71384E-4 |
40533 |
0 |
0.0020141 |
17-15878297-C-T
|
p.Gln214* |
stop_gained |
ADORA2B |
7 |
81034 |
8.63835E-5 |
40517 |
0 |
6.37024E-5 |
17-15878300-C-T
|
p.Arg215Cys |
missense |
ADORA2B |
1 |
81022 |
1.23423E-5 |
40511 |
0 |
7.95425E-6 |
17-15878300-C-G
|
p.Arg215Gly |
missense |
ADORA2B |
2 |
81022 |
2.46847E-5 |
40511 |
0 |
3.97712E-6 |
17-15878311-G-A
|
p.Leu218Leu |
synonymous |
ADORA2B |
1 |
81028 |
1.23414E-5 |
40514 |
0 |
NA |
17-15878318-C-T
|
p.His221Tyr |
missense |
ADORA2B |
1 |
81008 |
1.23445E-5 |
40504 |
0 |
3.97687E-6 |
17-15878337-A-G
|
p.Gln227Arg |
missense |
ADORA2B |
1 |
80996 |
1.23463E-5 |
40498 |
0 |
NA |
17-15878340-G-C
|
p.Arg228Pro |
missense |
ADORA2B |
1 |
81002 |
1.23454E-5 |
40501 |
0 |
NA |
17-15878362-A-C
|
p.Ser235Ser |
synonymous |
ADORA2B |
1 |
80992 |
1.23469E-5 |
40496 |
0 |
2.38597E-4 |
17-15878377-G-A
|
p.Val240Val |
synonymous |
ADORA2B |
121 |
80992 |
0.00149397 |
40496 |
0 |
0.00340938 |
17-15878397-G-T
|
p.Trp247Leu |
missense |
ADORA2B |
1 |
81000 |
1.23457E-5 |
40500 |
0 |
NA |
17-15878409-A-G
|
p.His251Arg |
missense |
ADORA2B |
2 |
80992 |
2.46938E-5 |
40496 |
0 |
1.19297E-5 |
17-15878419-C-T
|
p.Asn254Asn |
synonymous |
ADORA2B |
1 |
80978 |
1.2349E-5 |
40489 |
0 |
NA |
17-15878422-T-C
|
p.Cys255Cys |
synonymous |
ADORA2B |
2 |
80960 |
2.47036E-5 |
40480 |
0 |
7.15877E-5 |
17-15878424-T-C
|
p.Val256Ala |
missense |
ADORA2B |
2 |
80954 |
2.47054E-5 |
40477 |
0 |
3.97709E-6 |
17-15878437-G-T
|
p.Gln260His |
missense |
ADORA2B |
1 |
80928 |
1.23567E-5 |
40464 |
0 |
8.24919E-6 |
17-15878443-T-C
|
p.Ala262Ala |
synonymous |
ADORA2B |
330 |
80886 |
0.00407982 |
40443 |
8 |
0.00821342 |
17-15878449-T-C
|
p.Gly264Gly |
synonymous |
ADORA2B |
2 |
80866 |
2.47323E-5 |
40433 |
0 |
NA |
17-15878451-A-C
|
p.Lys265Thr |
missense |
ADORA2B |
2 |
80888 |
2.47255E-5 |
40444 |
0 |
3.97795E-6 |
17-15878456-A-G
|
p.Lys267Glu |
missense |
ADORA2B |
1 |
80866 |
1.23661E-5 |
40433 |
0 |
8.2575E-6 |
17-15878479-G-T
|
p.Met274Ile |
missense |
ADORA2B |
1 |
80750 |
1.23839E-5 |
40375 |
0 |
NA |
17-15878484-T-G
|
p.Ile276Ser |
missense |
ADORA2B |
1 |
80734 |
1.23864E-5 |
40367 |
0 |
7.96242E-6 |
17-15878518-C-T
|
p.Pro287Pro |
synonymous |
ADORA2B |
1 |
80278 |
1.24567E-5 |
40139 |
0 |
NA |
17-15878531-T-C
|
p.Tyr292His |
missense |
ADORA2B |
2 |
80006 |
2.49981E-5 |
40003 |
0 |
NA |
17-15878534-C-T
|
p.Arg293Trp |
missense |
ADORA2B |
11 |
79938 |
1.37607E-4 |
39969 |
0 |
2.2293E-4 |
17-15878541-G-A
|
p.Arg295Gln |
missense |
ADORA2B |
1 |
79812 |
1.25294E-5 |
39906 |
0 |
1.16031E-4 |
17-15878541-G-T
|
p.Arg295Leu |
missense |
ADORA2B |
1 |
79812 |
1.25294E-5 |
39906 |
0 |
NA |
17-15878543-G-C
|
p.Asp296His |
missense |
ADORA2B |
2 |
79788 |
2.50664E-5 |
39894 |
0 |
8.30592E-6 |
17-15878544-A-G
|
p.Asp296Gly |
missense |
ADORA2B |
2 |
79750 |
2.50784E-5 |
39875 |
0 |
1.57839E-4 |
17-15878550-G-A
|
p.Arg298His |
missense |
ADORA2B |
2 |
79656 |
2.5108E-5 |
39828 |
0 |
5.03525E-4 |
17-15878556-C-CT
|
p.His302fs |
frameshift |
ADORA2B |
3 |
79642 |
3.76686E-5 |
39821 |
0 |
3.18451E-5 |
17-15878557-T-G
|
p.Thr300Thr |
synonymous |
ADORA2B |
18 |
79648 |
2.25994E-4 |
39824 |
0 |
2.07786E-4 |
17-15878578-G-GT
|
p.Tyr308fs |
frameshift |
ADORA2B |
1 |
79770 |
1.2536E-5 |
39885 |
0 |
NA |
17-15878578-GTATC-G
|
p.Tyr308fs |
frameshift |
ADORA2B |
1 |
79770 |
1.2536E-5 |
39885 |
0 |
NA |
17-15878580-A-G
|
p.Tyr308Cys |
missense |
ADORA2B |
1 |
79856 |
1.25225E-5 |
39928 |
0 |
3.1835E-5 |
17-15878585-C-T
|
p.Leu310Phe |
missense |
ADORA2B |
1 |
79962 |
1.25059E-5 |
39981 |
0 |
3.18512E-5 |
17-15878587-C-G
|
p.Leu310Leu |
synonymous |
ADORA2B |
1 |
80004 |
1.24994E-5 |
40002 |
0 |
NA |
17-15878591-C-A
|
p.Gln312Lys |
missense |
ADORA2B |
1 |
80050 |
1.24922E-5 |
40025 |
0 |
4.00259E-6 |
17-15878601-T-A
|
p.Val315Asp |
missense |
ADORA2B |
1 |
80218 |
1.2466E-5 |
40109 |
0 |
NA |
17-15878625-G-A
|
p.Gly323Glu |
missense |
ADORA2B |
1 |
80564 |
1.24125E-5 |
40282 |
0 |
4.00647E-6 |
17-15878631-A-G
|
p.Gln325Arg |
missense |
ADORA2B |
12 |
80618 |
1.4885E-4 |
40309 |
0 |
5.03525E-4 |
17-15878641-C-T
|
p.Leu328Leu |
synonymous |
ADORA2B |
1 |
80676 |
1.23953E-5 |
40338 |
0 |
4.02253E-5 |
17-15878642-G-A
|
p.Gly329Ser |
missense |
ADORA2B |
1 |
80694 |
1.23925E-5 |
40347 |
0 |
9.55536E-5 |
17-15878648-G-C
|
p.Gly331Arg |
missense |
ADORA2B |
2 |
80702 |
2.47825E-5 |
40351 |
0 |
NA |
17-15878653-A-G
|
p.Leu332Leu |
synonymous |
ADORA2B |
1 |
80692 |
1.23928E-5 |
40346 |
0 |
8.44295E-6 |