Descriptions

The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.

Autoinhibitory domains (AIDs)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

Autoinhibited structure

Activated structure

2 structures for Q8IY82

Entry ID Method Resolution Chain Position Source
8J07 EM 410 A 7 1-874 PDB
AF-Q8IY82-F1 Predicted AlphaFoldDB

782 variants for Q8IY82

Variant ID(s) Position Change Description Diseaes Association Provenance
rs759374758
CA8079620
2 E>D No ClinGen
ExAC
gnomAD
rs765605875
CA8079621
3 V>D No ClinGen
ExAC
gnomAD
CA396068115
rs1434530798
3 V>I No ClinGen
gnomAD
CA396068145
rs1465871149
7 K>M No ClinGen
TOPMed
gnomAD
CA396068144
rs1465871149
7 K>R No ClinGen
TOPMed
gnomAD
rs1264487965
CA396068170
11 E>K No ClinGen
TOPMed
CA396068192
rs1466645425
13 E>D No ClinGen
gnomAD
CA396068201
rs372986204
15 E>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs372986204
CA8079625
15 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs752118158
CA8079628
16 R>P No ClinGen
ExAC
TOPMed
gnomAD
CA8079627
rs752118158
16 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs377175799
CA8079626
16 R>W No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA396068215
rs1339962956
17 E>A No ClinGen
TOPMed
rs746267695
CA8079630
19 A>T No ClinGen
ExAC
gnomAD
CA8079631
rs114039399
COSM1378590
19 A>V Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA8079634
rs147737491
21 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs772550400
CA8079635
22 W>S No ClinGen
ExAC
TOPMed
gnomAD
CA396068325
rs1266263874
25 W>* No ClinGen
gnomAD
rs747003152
CA8079636
25 W>C No ClinGen
ExAC
TOPMed
gnomAD
rs773576325
CA8079637
26 A>V No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 27 R>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs776688410
CA8079638
27 R>S No ClinGen
ExAC
gnomAD
CA396068365
rs1430934332
28 M>I No ClinGen
TOPMed
rs759462540
CA8079639
28 M>V No ClinGen
ExAC
gnomAD
rs1459530263
CA396068428
32 M>I No ClinGen
gnomAD
rs1425879400
CA396068424
32 M>T No ClinGen
gnomAD
rs775861445
CA8079642
33 R>K No ClinGen
ExAC
gnomAD
TCGA novel 33 R>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs775861445
CA8079641
33 R>M No ClinGen
ExAC
gnomAD
CA396068457
rs1434053138
34 P>L No ClinGen
gnomAD
CA396068476
rs1390248117
36 E>G No ClinGen
gnomAD
rs1340969293
CA396068502
38 R>Q No ClinGen
TOPMed
gnomAD
rs374804375
CA8079644
38 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs148801013
CA8079645
39 K>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA396068512
rs1217867320
39 K>R No ClinGen
gnomAD
COSM3712159
rs563865067
CA8079646
40 E>K upper_aerodigestive_tract [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
gnomAD
rs866969469
CA281611592
46 Q>K No ClinGen
Ensembl
CA8079648
COSM3421051
rs151301678
48 T>M Variant assessed as Somatic; 0.000416 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs55645458
CA8079652
51 D>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
VAR_061580
rs55645458
CA8079651
51 D>N No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
TCGA novel 53 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1555572085
CA8079654
53 E>K No ClinGen
Ensembl
TCGA novel 54 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 56 L>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1300882688
CA396068768
58 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs1274955995
CA396068775
59 I>M No ClinGen
TOPMed
gnomAD
CA396068770
rs1426115606
59 I>V No ClinGen
gnomAD
CA396068781
rs1165543391
60 Q>R No ClinGen
gnomAD
rs746550252
CA8079656
61 I>T No ClinGen
ExAC
gnomAD
CA281611677
rs1018275267
61 I>V No ClinGen
Ensembl
CA281611685
rs765943153
62 T>P No ClinGen
TOPMed
gnomAD
CA8079657
rs770462643
64 S>L No ClinGen
ExAC
gnomAD
CA8079658
rs554996757
65 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA8079660
rs769724264
66 E>A No ClinGen
ExAC
gnomAD
rs1381217545
CA396068861
66 E>D No ClinGen
gnomAD
rs775374976
CA8079661
67 L>F No ClinGen
ExAC
TOPMed
gnomAD
CA8079663
rs570401709
68 P>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs570401709
CA8079662
68 P>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs760717974
CA396069557
72 K>E No ClinGen
ExAC
gnomAD
rs760717974
CA8079686
72 K>Q No ClinGen
ExAC
gnomAD
CA8079687
rs766924177
73 D>H No ClinGen
ExAC
TOPMed
gnomAD
CA8079688
rs777183780
75 I>V No ClinGen
ExAC
gnomAD
rs1469809176
CA396069642
76 D>H No ClinGen
gnomAD
rs759884738
CA8079689
77 I>V No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 79 K>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1295271240
CA396069711
80 L>V No ClinGen
TOPMed
rs1175568130
CA396069760
84 Y>C No ClinGen
gnomAD
CA8079691
rs751186316
84 Y>N No ClinGen
ExAC
gnomAD
TCGA novel 87 N>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs767165632
CA8079693
88 T>I No ClinGen
ExAC
gnomAD
CA8079692
rs145687515
88 T>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8079694
rs749992822
89 P>L No ClinGen
ExAC
gnomAD
CA8079695
rs755662329
90 K>E No ClinGen
ExAC
gnomAD
CA8079696
rs779909844
90 K>M No ClinGen
ExAC
gnomAD
rs749239675
CA8079697
93 H>P No ClinGen
ExAC
gnomAD
rs1220212354
CA396069906
94 L>P No ClinGen
gnomAD
CA8079698
rs754730918
95 L>Q No ClinGen
ExAC
gnomAD
CA396069916
rs754730918
95 L>R No ClinGen
ExAC
gnomAD
CA8079700
rs748403546
97 V>G No ClinGen
ExAC
CA8079699
rs115262120
97 V>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA8079701
rs772323767
98 A>G No ClinGen
ExAC
gnomAD
rs747153990
CA396069997
100 N>K No ClinGen
ExAC
TOPMed
gnomAD
CA8079702
rs773405567
100 N>T No ClinGen
ExAC
gnomAD
rs770995209
CA8079704
101 F>S No ClinGen
ExAC
gnomAD
CA8079705
rs75044815
102 S>P No ClinGen
1000Genomes
ExAC
gnomAD
CA8079706
rs760032821
103 R>C No ClinGen
ExAC
gnomAD
rs202029235
CA8079708
103 R>H No ClinGen
1000Genomes
ExAC
gnomAD
CA8079707
rs202029235
103 R>P No ClinGen
1000Genomes
ExAC
gnomAD
rs763376876
CA8079709
107 H>Y No ClinGen
ExAC
TOPMed
gnomAD
rs750086657
CA396070154
108 L>P No ClinGen
ExAC
gnomAD
rs750086657
CA8079711
108 L>R No ClinGen
ExAC
gnomAD
CA396070177
rs557290288
109 C>* No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA8079714
rs753729583
110 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA396070202
rs753729583
110 P>R No ClinGen
ExAC
TOPMed
gnomAD
rs546062093
CA8079716
111 D>N No ClinGen
1000Genomes
ExAC
gnomAD
rs546062093
CA8079717
111 D>Y No ClinGen
1000Genomes
ExAC
gnomAD
rs367931148
CA8079718
112 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs371507183
CA8079719
112 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA8079721
rs770932216
113 V>M No ClinGen
ExAC
TOPMed
gnomAD
CA396070306
rs746390845
114 P>A No ClinGen
ExAC
gnomAD
CA8079723
rs746390845
114 P>T No ClinGen
ExAC
gnomAD
CA8079725
CA396070385
rs770372710
118 H>Q No ClinGen
ExAC
TOPMed
gnomAD
CA281612298
VAR_050738
rs11649000
120 L>M No ClinGen
UniProt
dbSNP
gnomAD
CA8079727
rs116591936
121 N>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA8079728
rs773000755
122 E>* No ClinGen
ExAC
gnomAD
rs773000755
CA8079729
122 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA396070484
rs1211971321
123 C>Y No ClinGen
TOPMed
gnomAD
rs759156050
CA8079751
127 K>N No ClinGen
ExAC
gnomAD
rs764584539
CA8079752
128 F>L No ClinGen
ExAC
TOPMed
gnomAD
rs1356100963
CA396070803
128 F>L No ClinGen
gnomAD
rs1459492370
CA396070842
129 V>A No ClinGen
TOPMed
gnomAD
rs148243996
CA8079753
129 V>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA396070858
rs1279277510
131 T>P No ClinGen
gnomAD
CA8079756
rs751393942
132 T>A No ClinGen
ExAC
gnomAD
CA8079757
rs756978671
132 T>N No ClinGen
ExAC
gnomAD
rs115434473
CA8079760
134 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA8079759
rs750606310
134 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA8079761
rs560274276
136 T>A No ClinGen
1000Genomes
ExAC
gnomAD
rs1381142048
CA396070960
138 M>I No ClinGen
gnomAD
rs376601948
CA8079762
139 P>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1407440659
CA396070989
140 Y>C No ClinGen
gnomAD
rs200779747
CA8079764
141 P>A No ClinGen
ExAC
TOPMed
gnomAD
rs142825289
CA8079766
142 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA396071084
rs1306581720
145 N>D No ClinGen
TOPMed
gnomAD
rs776354677
CA8079767
148 S>N No ClinGen
ExAC
gnomAD
rs1235100336
CA396071191
149 C>Y No ClinGen
gnomAD
CA8079769
rs527511720
154 S>Y No ClinGen
1000Genomes
ExAC
gnomAD
TCGA novel 155 D>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8079771
rs201048078
COSM971872
155 D>N Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1480681216
CA396071294
156 F>L No ClinGen
TOPMed
gnomAD
rs764065345
CA8079772
158 T>I No ClinGen
ExAC
TOPMed
gnomAD
rs774140724
CA8079773
159 M>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
rs1597793224
CA396071334
160 V>M No ClinGen
Ensembl
rs761733599
CA8079774
163 P>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs767150594
CA8079775
164 D>A No ClinGen
ExAC
gnomAD
CA8079776
rs750668059
165 P>R No ClinGen
ExAC
gnomAD
CA8079779
rs766594591
166 L>H No ClinGen
ExAC
gnomAD
rs766594591
CA8079778
166 L>P No ClinGen
ExAC
gnomAD
CA8079781
rs139579657
168 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8079809
rs771942185
169 P>H No ClinGen
ExAC
gnomAD
TCGA novel 170 S>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs576749114
CA8079811
170 S>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs773177646
CA8079810
170 S>P No ClinGen
ExAC
gnomAD
CA396071559
rs576749114
170 S>W No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs540891502
CA8079813
171 H>D No ClinGen
1000Genomes
ExAC
gnomAD
rs1345641173
CA396071572
173 Y>N No ClinGen
gnomAD
CA396071591
rs1429861942
175 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1387196557
CA396071593
176 T>A No ClinGen
TOPMed
CA281613178
rs375110826
176 T>I No ClinGen
ESP
TOPMed
CA396071611
rs1380649895
179 L>F No ClinGen
gnomAD
rs752763273
CA8079816
181 Y>* No ClinGen
ExAC
gnomAD
rs763068386
CA8079817
183 K>E No ClinGen
ExAC
gnomAD
CA8079818
rs7196016
VAR_030898
186 C>S No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA281613188
rs7196016
186 C>Y No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA281613194
rs967034503
188 D>G No ClinGen
Ensembl
CA396071673
rs1286699725
188 D>N No ClinGen
TOPMed
gnomAD
CA396071675
rs1286699725
188 D>Y No ClinGen
TOPMed
gnomAD
rs561267302
COSM1247437
CA8079820
191 T>M oesophagus [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
rs781473941
CA8079821
193 L>F No ClinGen
ExAC
gnomAD
CA281613208
rs200158782
193 L>P No ClinGen
1000Genomes
rs778596229
CA396071747
199 G>C No ClinGen
ExAC
TOPMed
gnomAD
rs778596229
CA8079824
199 G>S No ClinGen
ExAC
TOPMed
gnomAD
COSM3957674
CA8079825
rs571695768
202 Y>C lung [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
CA8079827
rs777577195
204 A>V No ClinGen
ExAC
gnomAD
rs112237218
CA8079830
207 V>F No ClinGen
ExAC
TOPMed
gnomAD
CA8079829
rs112237218
207 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA8079832
rs769961305
209 G>S No ClinGen
ExAC
TOPMed
gnomAD
rs149851575
CA396071840
210 Y>* No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1320685622
CA396071850
211 G>D No ClinGen
TOPMed
rs548125692
CA8079835
211 G>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA8079836
rs774847984
212 S>L No ClinGen
ExAC
gnomAD
CA396071872
rs1305375654
213 L>P No ClinGen
gnomAD
rs750825334
CA8079839
219 D>G No ClinGen
ExAC
TOPMed
gnomAD
rs1290483040
CA396071969
221 T>A No ClinGen
TOPMed
gnomAD
rs756477752
CA8079840
221 T>M No ClinGen
ExAC
TOPMed
gnomAD
rs752330277
CA396071979
222 R>G No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 222 R>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs368134516
CA8079843
222 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs752330277
CA8079842
222 R>W No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 228 T>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs761374241
CA281613252
229 V>G No ClinGen
TOPMed
CA396072074
rs1403239570
232 K>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs745717772
CA8079848
233 E>D No ClinGen
ExAC
gnomAD
TCGA novel 234 T>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs779845966
CA8079868
238 E>* No ClinGen
ExAC
gnomAD
rs1567874470
CA396038424
238 E>A No ClinGen
Ensembl
VAR_061581
rs58373934
CA8079869
241 V>E No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA281573815
rs144863089
241 V>M No ClinGen
ESP
TOPMed
rs1413390672
CA396038461
244 K>E No ClinGen
gnomAD
rs1329802068
CA396038471
245 K>T No ClinGen
gnomAD
rs768963444
CA8079871
248 I>M No ClinGen
ExAC
gnomAD
rs1433514148
CA396038491
248 I>V No ClinGen
gnomAD
CA8079872
rs774533202
249 K>N No ClinGen
ExAC
CA8079874
rs772133608
250 P>H No ClinGen
ExAC
gnomAD
CA8079875
rs772133608
250 P>L No ClinGen
ExAC
gnomAD
CA8079873
rs568545582
250 P>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs771232710
CA8079877
251 P>R No ClinGen
ExAC
gnomAD
rs1597796352
CA396038506
251 P>S No ClinGen
Ensembl
rs759802239
CA8079879
253 D>H No ClinGen
ExAC
TOPMed
gnomAD
rs763900746
CA8079880
254 L>M No ClinGen
ExAC
TOPMed
gnomAD
CA396038525
rs763900746
254 L>V No ClinGen
ExAC
TOPMed
gnomAD
rs1474167578
CA396038534
255 C>Y No ClinGen
gnomAD
CA396038540
rs1165050128
256 S>N No ClinGen
gnomAD
CA396038545
rs1385424116
257 R>G No ClinGen
TOPMed
gnomAD
CA8079881
rs751256275
257 R>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1163267728
CA396038549
257 R>S No ClinGen
gnomAD
rs1389112953
CA396038553
258 F>V No ClinGen
gnomAD
CA8079883
rs767075700
261 E>A No ClinGen
ExAC
TOPMed
gnomAD
rs1247996578
CA396038605
264 V>L No ClinGen
TOPMed
rs767908919
CA8079885
265 K>T No ClinGen
ExAC
gnomAD
CA8079887
rs753714439
266 K>Q No ClinGen
ExAC
TOPMed
gnomAD
rs146569180
CA8079889
267 Q>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1258243351
CA396038649
267 Q>R No ClinGen
TOPMed
rs1352644557
CA396038671
268 Q>H No ClinGen
gnomAD
CA396038677
rs1597796458
269 E>K No ClinGen
Ensembl
CA281573900
rs901295959
273 Q>H No ClinGen
Ensembl
rs1299605447
CA396038743
273 Q>L No ClinGen
TOPMed
rs748313574
CA8079891
275 K>E No ClinGen
ExAC
TOPMed
gnomAD
rs116668060
CA8079893
277 R>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs376811117
CA8079892
277 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs539625603
CA8079894
280 E>G No ClinGen
1000Genomes
ExAC
gnomAD
COSM1709223
rs756612744
CA281573926
280 E>K skin [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
rs539625603
CA8079895
280 E>V No ClinGen
1000Genomes
ExAC
gnomAD
CA396038846
rs1597796526
281 E>G No ClinGen
Ensembl
rs1279604512
CA396038860
282 E>G No ClinGen
gnomAD
CA396038853
rs1471385710
282 E>K No ClinGen
gnomAD
CA8079896
rs368993624
COSM971874
283 E>D endometrium [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
rs760016283
CA8079897
284 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA396038890
rs1456125426
284 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA396038893
rs1456125426
284 R>L No ClinGen
TOPMed
gnomAD
rs1407010857
CA396038920
286 M>I No ClinGen
gnomAD
rs770219988
CA8079898
COSM1378592
286 M>V large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
CA8079914
rs527250357
288 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs763592940
CA8079916
289 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs749635204
CA8079917
291 A>T No ClinGen
ExAC
gnomAD
rs370261163
CA8079918
293 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs765738766
CA396039361
294 D>N No ClinGen
ExAC
gnomAD
rs765738766
CA8079921
294 D>Y No ClinGen
ExAC
gnomAD
rs374191762
CA281574909
295 A>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8079922
rs374191762
295 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA396039435
rs1567876437
296 L>R No ClinGen
Ensembl
CA8079924
rs371355067
298 G>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
gnomAD
CA8079925
rs752539289
299 L>P No ClinGen
ExAC
gnomAD
rs751669139
CA396039575
300 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA8079928
rs751669139
300 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA8079926
rs370833826
300 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1411658086
CA396039587
301 V>A No ClinGen
TOPMed
rs1411658086
CA396039590
301 V>G No ClinGen
TOPMed
rs1167613360
CA396039581
301 V>L No ClinGen
gnomAD
rs781080934
CA8079930
304 W>L No ClinGen
ExAC
TOPMed
gnomAD
rs781080934
CA396039675
304 W>S No ClinGen
ExAC
TOPMed
gnomAD
CA8079931
rs114224823
305 V>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1441778167
CA396039726
306 L>P No ClinGen
gnomAD
rs1303559851
CA396039717
306 L>V No ClinGen
gnomAD
rs780681630
CA8079933
307 V>G No ClinGen
ExAC
gnomAD
CA8079932
rs756723687
307 V>M No ClinGen
ExAC
gnomAD
rs749727125
CA8079934
309 S>L No ClinGen
ExAC
gnomAD
rs772920234
CA8079936
312 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA8079937
rs746582949
312 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs116219187
CA8079939
313 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1488399839
CA396039884
316 E>K No ClinGen
gnomAD
CA396039915
rs765217504
317 N>K No ClinGen
ExAC
TOPMed
gnomAD
rs943762639
CA281574999
318 F>C No ClinGen
Ensembl
CA8079942
rs775406042
318 F>V No ClinGen
ExAC
gnomAD
rs1302692501
CA396039934
319 F>L No ClinGen
gnomAD
rs371297408
CA8079944
320 I>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 321 D>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs751832392
CA396039981
321 D>H No ClinGen
ExAC
TOPMed
gnomAD
rs751832392
CA8079945
321 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1311408339
CA396040028
322 P>L No ClinGen
TOPMed
CA396040003
rs1216219139
322 P>T No ClinGen
gnomAD
rs374813861
CA8079947
324 T>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8079946
rs374813861
324 T>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs780655715
CA281575017
325 G>* No ClinGen
gnomAD
CA8079948
rs750577104
328 Y>H No ClinGen
ExAC
gnomAD
rs1290609306
CA396040229
329 S>G No ClinGen
gnomAD
CA396040243
rs1380668543
329 S>N Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA8079949
rs756248413
330 T>I No ClinGen
ExAC
gnomAD
rs1381122554
CA396040333
332 D>Y No ClinGen
gnomAD
CA8079950
rs116685636
333 E>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1429531514
CA396040455
334 H>Q No ClinGen
TOPMed
CA8079951
rs749743478
334 H>Y No ClinGen
ExAC
gnomAD
TCGA novel 335 F>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs755382591
CA8079952
335 F>L No ClinGen
ExAC
gnomAD
rs779108833
CA8079953
337 G>S No ClinGen
ExAC
gnomAD
CA8079954
COSM1478935
rs200287537
338 I>M Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 338 I>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs745561928
CA396040558
339 E>* No ClinGen
ExAC
TOPMed
gnomAD
CA8079955
rs745561928
339 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs868780688
CA281575043
341 L>P No ClinGen
Ensembl
rs1416408179
CA396040581
342 W>R No ClinGen
TOPMed
rs1164690502
CA396040628
345 K>N No ClinGen
TOPMed
CA8079956
rs780810092
346 N>I No ClinGen
ExAC
gnomAD
rs368578019
CA8079957
348 W>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs769230926
CA8079958
349 I>N No ClinGen
ExAC
gnomAD
rs1446667213
CA396040750
350 N>H No ClinGen
gnomAD
rs775422506
CA8079959
351 M>I No ClinGen
ExAC
TOPMed
gnomAD
CA396040812
rs199914520
352 Q>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs199914520
CA8079960
352 Q>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8079961
rs768524125
352 Q>R No ClinGen
ExAC
gnomAD
CA396040935
rs1161057143
354 C>Y No ClinGen
gnomAD
rs905750276
CA281575079
355 W>* No ClinGen
Ensembl
CA281575093
rs1001545487
357 C>Y No ClinGen
Ensembl
CA8079964
rs774052415
358 C>W No ClinGen
ExAC
gnomAD
rs761643337
CA8079965
359 K>T No ClinGen
ExAC
TOPMed
gnomAD
CA396044667
rs1293684353
360 D>Y No ClinGen
gnomAD
rs140465727
CA8080003
365 L>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs773101098
CA8080002
365 L>V No ClinGen
ExAC
gnomAD
rs1366335312
CA396044885
366 G>A No ClinGen
TOPMed
rs1476132457
CA396044860
366 G>S No ClinGen
TOPMed
gnomAD
CA8080004
rs771336398
367 D>E No ClinGen
ExAC
gnomAD
rs1186625941
CA396044898
367 D>N No ClinGen
gnomAD
CA396044921
rs1475341128
368 P>A No ClinGen
gnomAD
TCGA novel 368 P>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1427437056
CA396045020
371 W>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA396045040
rs377352662
372 E>K No ClinGen
ESP
ExAC
gnomAD
CA8080005
rs377352662
372 E>Q No ClinGen
ESP
ExAC
gnomAD
CA396045119
rs1406442545
373 Y>F No ClinGen
TOPMed
gnomAD
CA8080007
rs765306232
374 M>V No ClinGen
ExAC
gnomAD
rs775885731
CA8080008
378 T>I No ClinGen
ExAC
gnomAD
CA8080009
rs115764969
380 K>R No ClinGen
1000Genomes
ExAC
gnomAD
rs773693584
CA281579394
382 Q>* No ClinGen
Ensembl
rs1408435347
CA396045415
384 S>F No ClinGen
TOPMed
rs1226554815
CA396045441
385 L>F No ClinGen
gnomAD
rs1597806415
CA396045479
387 E>K No ClinGen
Ensembl
CA8080012
rs757600500
388 E>D No ClinGen
ExAC
gnomAD
rs753462834
CA8080014
389 D>G No ClinGen
ExAC
gnomAD
CA8080013
rs766011449
389 D>Y No ClinGen
ExAC
rs528459321
CA8080017
390 D>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA8080016
rs115608641
390 D>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1198695271
CA396045586
391 S>R No ClinGen
TOPMed
rs78478181
CA396045633
393 I>L No ClinGen
TOPMed
gnomAD
CA8080018
rs758460019
393 I>T No ClinGen
ExAC
gnomAD
CA281579440
rs78478181
393 I>V No ClinGen
TOPMed
gnomAD
rs1215926885
CA396045702
395 D>G No ClinGen
TOPMed
rs746869486
CA8080020
395 D>N No ClinGen
ExAC
TOPMed
gnomAD
CA8080021
rs746869486
395 D>Y No ClinGen
ExAC
TOPMed
gnomAD
CA8080022
rs373778518
396 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8080023
rs746056098
397 D>H No ClinGen
ExAC
TOPMed
gnomAD
CA396045788
rs1223451935
398 D>A No ClinGen
TOPMed
TCGA novel 402 L>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1257644897
CA396047424
405 E>D No ClinGen
TOPMed
CA281582961
rs867604105
405 E>K No ClinGen
TOPMed
rs867604105
CA396047419
405 E>Q No ClinGen
TOPMed
rs781003566
CA8080039
407 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA8080040
rs576626081
408 D>G No ClinGen
1000Genomes
ExAC
gnomAD
CA281582969
rs866276768
408 D>N No ClinGen
Ensembl
rs1205351364
CA396047471
412 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs768654264
CA8080044
412 D>V No ClinGen
ExAC
gnomAD
rs1355798118
CA396047482
413 M>T No ClinGen
gnomAD
rs543427026
CA8080045
413 M>V No ClinGen
1000Genomes
ExAC
gnomAD
CA396047488
rs1351855550
414 P>S No ClinGen
TOPMed
CA396047486
rs1351855550
414 P>T Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs747223592
CA281582988
415 H>R No ClinGen
Ensembl
CA396047494
rs1254483185
415 H>Y No ClinGen
gnomAD
CA8080046
rs564754027
416 S>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1294411278
CA396047534
COSM3818161
420 Q>H breast [Cosmic] No ClinGen
cosmic curated
TOPMed
CA281582990
rs1048438257
421 I>V No ClinGen
Ensembl
TCGA novel 423 I>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1416752582
CA396047561
424 S>F Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA8080049
rs115428328
425 P>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA396047563
rs1251667518
425 P>S No ClinGen
gnomAD
CA396047615
rs1224382319
430 T>N No ClinGen
gnomAD
CA8080077
rs546569413
431 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs752663613
CA8080078
431 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA396047623
rs752663613
431 R>P No ClinGen
ExAC
TOPMed
gnomAD
CA396047618
rs546569413
431 R>S No ClinGen
ExAC
TOPMed
gnomAD
rs3809611
VAR_030899
CA8080080
433 P>L No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs3809611
CA8080081
433 P>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA396047651
CA8080084
rs771456695
435 G>R No ClinGen
ExAC
TOPMed
gnomAD
CA396047677
rs1367765252
437 K>Q No ClinGen
TOPMed
gnomAD
rs1166519009
CA396047680
437 K>T No ClinGen
TOPMed
CA8080087
rs746217306
439 I>M No ClinGen
ExAC
TOPMed
gnomAD
rs577434117
CA8080089
440 Q>H No ClinGen
1000Genomes
ExAC
gnomAD
rs116091812
CA8080088
440 Q>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1318178963
CA396047800
443 R>S No ClinGen
gnomAD
CA396047805
rs1384578698
444 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1250222605
CA396047836
446 L>M No ClinGen
TOPMed
rs766876798
CA8080091
447 E>K No ClinGen
ExAC
gnomAD
CA8080092
rs375500906
448 K>N No ClinGen
ESP
ExAC
gnomAD
CA396047910
rs1442435610
449 W>R No ClinGen
gnomAD
CA281583678
rs35120734
450 A>D No ClinGen
Ensembl
rs1321570445
CA396047963
451 P>L No ClinGen
TOPMed
gnomAD
rs1278470028
CA396047957
451 P>S No ClinGen
TOPMed
gnomAD
rs1597809081
CA396048083
456 N>S No ClinGen
Ensembl
rs148191268
CA8080094
457 G>S No ClinGen
ESP
ExAC
gnomAD
rs1230147275
CA396048142
458 L>P No ClinGen
TOPMed
CA281583695
rs561829923
459 V>M No ClinGen
Ensembl
rs368843043
CA8080096
461 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA8080097
rs141168933
461 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8080098
rs372375509
464 T>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs150899646
CA8080099
465 Y>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1161344792
CA396048375
469 Q>E No ClinGen
gnomAD
rs1275093797
CA396048452
470 C>F No ClinGen
gnomAD
CA8080121
rs532549050
472 N>D No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1202999316
CA396048490
472 N>S No ClinGen
TOPMed
gnomAD
CA8080122
rs750898433
476 I>T No ClinGen
ExAC
gnomAD
rs1478047417
CA396048576
477 K>N No ClinGen
gnomAD
CA8080123
rs756567148
478 E>* No ClinGen
ExAC
TOPMed
gnomAD
CA8080124
rs780238832
478 E>A No ClinGen
ExAC
gnomAD
rs771670325
CA8080126
483 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA8080125
rs749631550
483 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA281583895
rs867058517
485 D>N No ClinGen
Ensembl
rs746588421
CA8080128
486 M>I No ClinGen
ExAC
CA396048692
rs1414954397
486 M>T No ClinGen
TOPMed
rs777467356
CA8080127
486 M>V No ClinGen
ExAC
gnomAD
rs370551869
CA281583903
490 K>Q No ClinGen
Ensembl
rs144368726
CA8080131
492 I>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs761589413
CA8080129
494 K>T No ClinGen
ExAC
TOPMed
gnomAD
COSM971877
CA396048860
rs1159652227
497 D>N Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
rs759429579
CA8080132
497 D>V No ClinGen
ExAC
TOPMed
gnomAD
rs769741433
CA396048899
499 K>M No ClinGen
ExAC
gnomAD
CA8080133
rs769741433
499 K>R No ClinGen
ExAC
gnomAD
rs1341249784
CA396048917
500 T>I No ClinGen
gnomAD
rs1202802593
CA396048929
501 D>G No ClinGen
gnomAD
CA396048940
rs1452126726
502 Y>D No ClinGen
TOPMed
gnomAD
CA396048938
rs1452126726
502 Y>H No ClinGen
TOPMed
gnomAD
CA396048969
rs1244547434
504 K>Q No ClinGen
gnomAD
rs1188857449
CA396048995
505 P>H No ClinGen
TOPMed
gnomAD
CA396048986
rs1465967922
505 P>T No ClinGen
gnomAD
CA8080136
rs764293886
507 H>Q No ClinGen
ExAC
TOPMed
gnomAD
CA8080137
rs751742301
508 P>T No ClinGen
ExAC
gnomAD
CA8080139
rs761994031
510 A>P No ClinGen
ExAC
TOPMed
gnomAD
rs761994031
CA8080138
510 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs111266074 512 R>= Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
rs140152877
CA8080141
512 R>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs112796488
CA8080143
512 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA8080142
rs140152877
512 R>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA8080145
rs777303843
513 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs1473860898
CA396049211
514 H>P No ClinGen
gnomAD
CA396049213
rs1473860898
514 H>R No ClinGen
gnomAD
CA8080164
rs370805097
515 S>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8080166
rs780812089
516 Y>S No ClinGen
ExAC
TOPMed
gnomAD
CA396049270
rs1174577568
517 K>N No ClinGen
gnomAD
CA396049281
rs1326038094
518 S>F No ClinGen
TOPMed
gnomAD
rs745452424
CA8080167
518 S>P No ClinGen
ExAC
gnomAD
rs115266078
CA8080168
520 Q>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA396049311
rs1310856231
520 Q>P No ClinGen
gnomAD
CA281584751
VAR_055286
rs17853687
521 P>H No ClinGen
UniProt
Ensembl
dbSNP
CA396049352
rs199756542
CA8080170
522 E>D No ClinGen
ExAC
TOPMed
gnomAD
CA8080169
rs779873072
522 E>K No ClinGen
ExAC
gnomAD
CA396049366
rs1446816162
523 M>T No ClinGen
TOPMed
rs768363381
CA8080171
524 D>E No ClinGen
ExAC
gnomAD
rs1246730352
CA396049380
524 D>N No ClinGen
TOPMed
CA8080172
rs145778054
525 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8080173
rs747932271
525 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs1343873976
CA396049413
526 V>I No ClinGen
gnomAD
rs1263892110
CA396049431
527 I>V No ClinGen
TOPMed
rs111650781
CA8080176
532 T>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8080178
rs142819400
534 R>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA8080179
rs151212770
534 R>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs151212770
CA396049493
534 R>P No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 535 V>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8080180
rs765712594
535 V>G No ClinGen
ExAC
gnomAD
CA8080181
rs753120167
538 L>P No ClinGen
ExAC
gnomAD
rs1339730793
CA396049522
539 M>T No ClinGen
TOPMed
rs373910242
CA8080182
540 K>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1477823218
CA396049529
540 K>T No ClinGen
gnomAD
CA8080184
rs750016186
541 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA8080183
rs141447807
541 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs146971731
CA8080185
543 E>K No ClinGen
ESP
ExAC
CA396049556
rs1430305506
544 T>I No ClinGen
gnomAD
rs779579788
CA8080186
545 P>A No ClinGen
ExAC
gnomAD
rs1567886646
CA396049603
551 Y>C No ClinGen
Ensembl
rs533991072
CA8080188
552 Y>C No ClinGen
1000Genomes
ExAC
gnomAD
CA396049608
rs1323651512
552 Y>H No ClinGen
gnomAD
rs1597810588
CA396049616
553 Q>* No ClinGen
Ensembl
rs983509762
CA281584855
553 Q>P No ClinGen
Ensembl
rs376617944
CA8080189
555 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs138112221
CA8080190
555 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs138112221
CA8080191
555 R>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA281584886
rs942109518
557 D>E No ClinGen
TOPMed
gnomAD
rs747214037
CA8080194
558 F>L No ClinGen
ExAC
TOPMed
gnomAD
CA396049706
rs1450676499
560 S>F No ClinGen
TOPMed
CA396049719
rs1597810642
561 Y>S No ClinGen
Ensembl
rs142210058
CA8080197
562 R>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSM971879
rs1211640046
CA396049739
562 R>H Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
rs1446420108
CA396049798
565 S>N No ClinGen
Ensembl
rs775905245
CA8080200
567 G>R No ClinGen
ExAC
TOPMed
gnomAD
CA396049842
rs1421161189
567 G>V No ClinGen
gnomAD
rs764388758
CA8080203
569 R>* No ClinGen
ExAC
TOPMed
gnomAD
CA8080204
rs114067415
569 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA396049877
rs1371203653
570 V>I No ClinGen
TOPMed
gnomAD
CA396049914
rs1293591774
572 K>E No ClinGen
gnomAD
rs1389454135
CA396049965
574 T>A No ClinGen
gnomAD
TCGA novel 575 L>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs373835894
CA8080207
577 S>T No ClinGen
ExAC
gnomAD
rs778999719
CA8080208
578 A>T No ClinGen
ExAC
gnomAD
rs368794195
CA8080209
578 A>V No ClinGen
ESP
ExAC
TOPMed
rs115241876
CA8080210
580 S>P No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA8080211
rs2923144
VAR_030900
581 N>K No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
COSM2992352
rs1306261476
CA396050096
581 N>T pancreas [Cosmic] No ClinGen
cosmic curated
gnomAD
rs144451928
CA8080213
583 R>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs114195136
CA8080212
583 R>W No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA8080214
rs781263578
584 P>S No ClinGen
ExAC
gnomAD
CA8080215
COSM340091
rs564258325
585 I>T lung [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
rs372201071
CA8080216
586 V>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs762545980
CA8080246
588 I>M No ClinGen
ExAC
gnomAD
rs1253992475
CA396051108
588 I>T No ClinGen
TOPMed
rs764094351
CA8080247
589 T>R No ClinGen
ExAC
gnomAD
rs751392596
CA8080248
590 E>G No ClinGen
ExAC
TOPMed
gnomAD
CA396051124
rs757094425
591 R>P No ClinGen
ExAC
TOPMed
gnomAD
COSM1734938
rs757094425
CA8080249
591 R>Q pancreas [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs1305077221
CA396051135
593 F>L No ClinGen
gnomAD
rs767172969
CA8080250
594 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs1279392609
CA396051144
594 R>H No ClinGen
TOPMed
rs1443373274
CA396051158
596 P>R No ClinGen
TOPMed
CA8080251
rs750192378
596 P>T No ClinGen
ExAC
gnomAD
CA396051165
rs1279424490
597 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA396051170
rs1489685898
598 K>R No ClinGen
Ensembl
CA8080252
rs756380762
599 P>R No ClinGen
ExAC
TOPMed
gnomAD
CA8080253
rs375048759
600 A>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA396051179
rs375048759
600 A>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA396051180
rs375048759
600 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA396051183
rs1406858907
600 A>V No ClinGen
TOPMed
rs1178891353
CA396051188
601 E>G No ClinGen
TOPMed
CA8080254
rs749438500
602 E>D No ClinGen
ExAC
TOPMed
gnomAD
CA396051192
rs1455882607
602 E>K No ClinGen
TOPMed
CA8080256
rs779489530
603 D>A No ClinGen
ExAC
gnomAD
CA8080258
rs201411909
603 D>E No ClinGen
1000Genomes
ExAC
gnomAD
rs754948318
CA8080255
603 D>H No ClinGen
ExAC
TOPMed
gnomAD
rs956864246
CA281585957
604 V>G No ClinGen
gnomAD
rs116471318
CA8080259
604 V>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA281585958
rs1009770408
605 A>S No ClinGen
Ensembl
CA8080260
rs560721150
606 E>D No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA8080261
rs199828087
607 R>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 607 R>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1441497886
CA396051229
608 V>A No ClinGen
TOPMed
gnomAD
CA396051228
rs1441497886
608 V>E No ClinGen
TOPMed
gnomAD
rs1369993035
CA396051237
609 F>L No ClinGen
gnomAD
rs1446129836
CA396051232
609 F>L No ClinGen
TOPMed
CA396051242
rs1302384158
610 L>P No ClinGen
gnomAD
rs1230374430
CA396051247
611 V>A No ClinGen
gnomAD
CA8080262
rs775214927
611 V>I No ClinGen
ExAC
gnomAD
rs542227091
COSM704034
CA8080264
612 A>T lung [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
rs774372765
CA8080265
612 A>V No ClinGen
ExAC
gnomAD
CA281586005
rs561063416
613 E>G No ClinGen
1000Genomes
rs750280386
CA8080268
614 E>V No ClinGen
ExAC
gnomAD
rs755902295
CA8080269
615 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs755902295
CA396051268
615 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA8080270
rs766595161
COSM1199832
615 R>H Variant assessed as Somatic; 0.0 impact. large_intestine breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1170895453
CA396051271
616 I>L No ClinGen
gnomAD
rs1384146298
COSM1238441
CA396051295
619 R>H oesophagus [Cosmic] No ClinGen
cosmic curated
TOPMed
rs1384146298
CA396051297
619 R>P No ClinGen
TOPMed
rs1420767330
CA396051307
620 Y>S No ClinGen
gnomAD
CA396051321
rs1409961371
621 H>D No ClinGen
TOPMed
gnomAD
CA396051326
rs1168397284
621 H>R No ClinGen
gnomAD
rs201698464
CA8080271
622 C>Y No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA8080272
rs189601070
COSM435438
623 R>C Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
NCI-TCGA
gnomAD
CA8080273
rs778818941
623 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1319161509
CA396051359
624 E>* No ClinGen
TOPMed
rs1597812029
CA396051365
624 E>G No ClinGen
Ensembl
CA396051383
rs1436937409
625 D>E No ClinGen
gnomAD
CA8080274
rs752790673
625 D>G No ClinGen
ExAC
TOPMed
gnomAD
rs138457451
CA8080275
628 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA396051424
rs1212786360
629 A>T No ClinGen
TOPMed
gnomAD
rs143054335
COSM460515
CA8080278
632 R>C cervix [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1387002277
CA396051464
632 R>H No ClinGen
TOPMed
COSM3957675
rs143054335
CA8080277
632 R>S lung [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1250692962
CA396051470
COSM3818163
633 E>K Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
rs1597812080
CA396051485
634 F>L No ClinGen
Ensembl
CA281586115
rs940442650
636 R>Q No ClinGen
gnomAD
rs748847770
CA8080280
636 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs768319912
CA8080281
637 R>C No ClinGen
ExAC
gnomAD
rs532170531
CA8080282
637 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs771972834
CA8080284
639 E>D No ClinGen
ExAC
TOPMed
gnomAD
rs1242355910
CA396051504
639 E>K No ClinGen
TOPMed
CA396051517
rs1461984589
641 D>N No ClinGen
gnomAD
CA8080285
rs773070086
642 S>T No ClinGen
ExAC
gnomAD
CA8080286
rs760477972
643 K>R No ClinGen
ExAC
TOPMed
gnomAD
CA8080287
rs766115773
644 G>S No ClinGen
ExAC
gnomAD
CA396051543
rs1567887959
644 G>V No ClinGen
Ensembl
CA396051552
rs754091701
645 N>K No ClinGen
ExAC
TOPMed
gnomAD
rs1211350016
CA396051605
649 M>I No ClinGen
gnomAD
rs759718926
CA8080289
650 T>M Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA396051643
rs1285834284
652 D>G No ClinGen
gnomAD
rs1428423150
CA396051639
652 D>N No ClinGen
TOPMed
gnomAD
CA396051663
rs1567888016
653 M>I No ClinGen
Ensembl
CA396051656
rs1356028470
653 M>T No ClinGen
TOPMed
gnomAD
CA396051651
rs1178625020
653 M>V No ClinGen
gnomAD
CA396051671
rs1250751700
654 C>Y No ClinGen
gnomAD
rs1232085662
CA396051682
655 I>V No ClinGen
gnomAD
rs752785974
CA8080291
656 S>N No ClinGen
ExAC
gnomAD
CA8080292
rs758434599
658 E>K No ClinGen
ExAC
TOPMed
CA8080319
rs140120172
662 M>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs778446755
CA8080320
664 H>Y No ClinGen
ExAC
TOPMed
gnomAD
CA281586577
rs992055210
670 Y>F No ClinGen
TOPMed
gnomAD
CA396051997
rs1196454900
671 Q>R No ClinGen
gnomAD
CA8080323
rs757937565
672 Y>* No ClinGen
ExAC
TOPMed
gnomAD
CA8080321
rs747789249
672 Y>H No ClinGen
ExAC
TOPMed
gnomAD
CA8080324
rs141535311
673 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA8080325
rs141535311
673 E>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8080326
rs776565575
675 M>L No ClinGen
ExAC
gnomAD
CA396052113
CA396052110
rs1480072081
676 M>I No ClinGen
TOPMed
gnomAD
CA396052105
rs1171538009
676 M>T No ClinGen
gnomAD
CA396052197
rs1254284869
679 K>N No ClinGen
gnomAD
rs1462492613
CA396052226
681 E>K No ClinGen
gnomAD
rs200765306
CA8080331
686 R>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA396052356
rs764385106
687 H>L No ClinGen
ExAC
TOPMed
gnomAD
rs764385106
CA8080332
687 H>R No ClinGen
ExAC
TOPMed
gnomAD
CA8080333
rs774628281
688 Q>E No ClinGen
ExAC
gnomAD
CA8080334
rs559243056
689 V>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs750887041
CA8080336
690 W>* No ClinGen
ExAC
TOPMed
gnomAD
CA8080335
rs768147429
690 W>L No ClinGen
ExAC
gnomAD
rs1250796688
CA396052459
693 E>Q No ClinGen
gnomAD
rs1334513227
CA396052476
694 L>V No ClinGen
TOPMed
rs1328702572
CA396052495
695 E>Q No ClinGen
TOPMed
CA281586897
rs771452617
696 V>M No ClinGen
gnomAD
rs1597813248
CA396053439
697 L>M No ClinGen
Ensembl
rs114404655
CA281586899
702 L>V No ClinGen
1000Genomes
ESP
TOPMed
gnomAD
rs751162679
CA8080359
703 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA281586907
rs751162679
703 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA396053548
rs756790817
703 R>L No ClinGen
ExAC
gnomAD
rs756790817
CA8080360
703 R>Q No ClinGen
ExAC
gnomAD
CA396053568
rs1441691150
704 E>D No ClinGen
gnomAD
CA8080362
rs780791269
706 E>Q No ClinGen
ExAC
gnomAD
CA396053605
rs1199128551
707 E>A No ClinGen
TOPMed
rs1267268672
CA396053598
707 E>Q No ClinGen
TOPMed
rs113808967
CA8080364
708 A>E No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA8080363
rs113808967
708 A>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA8080366
rs749102777
709 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA8080367
rs147667972
709 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA396053693
rs1258806762
713 T>I No ClinGen
gnomAD
TCGA novel 716 I>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA396053799
rs1484374027
717 Y>C No ClinGen
gnomAD
rs1256762324
CA396053792
717 Y>D No ClinGen
gnomAD
rs1408172589
CA396053848
719 T>A No ClinGen
TOPMed
gnomAD
rs140762606
CA8080371
719 T>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA8080372
rs199979214
720 K>E No ClinGen
ExAC
TOPMed
gnomAD
rs759805155
CA8080375
721 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs150764393
CA8080374
721 R>W No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs759915957
CA8080376
723 E>G No ClinGen
ExAC
gnomAD
rs1428155754
CA396054126
727 E>G No ClinGen
TOPMed
CA8080378
rs200880531
729 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs979729729
CA281587038
729 R>W Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA396054183
rs1212518679
730 E>K No ClinGen
gnomAD
CA8080379
rs761571993
731 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA396054247
rs1304564730
732 M>I No ClinGen
gnomAD
CA396054235
rs1391092227
732 M>V No ClinGen
TOPMed
gnomAD
rs1420871870 733 E>= Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
rs199589859
CA8080410
734 R>C Variant assessed as Somatic; 4.786e-05 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1168634706
CA396054422
734 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA8080413
rs770349167
735 M>T No ClinGen
ExAC
gnomAD
rs745930882
CA8080412
735 M>V No ClinGen
ExAC
gnomAD
CA8080415
rs373094122
COSM1709228
738 E>K Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1597814243
CA396054558
740 H>P No ClinGen
Ensembl
rs760289234
CA8080418
742 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs369052704
CA8080417
742 R>W No ClinGen
ExAC
gnomAD
rs766108196
CA8080419
744 V>G No ClinGen
ExAC
gnomAD
rs78948416
CA8080421
745 E>A No ClinGen
ExAC
gnomAD
rs78948416
CA8080420
745 E>G No ClinGen
ExAC
gnomAD
rs765272064
CA8080422
746 T>A No ClinGen
ExAC
gnomAD
rs752526431
CA8080423
746 T>N No ClinGen
ExAC
rs1332923510
CA396054700
747 Q>H No ClinGen
TOPMed
TCGA novel 747 Q>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs758241990
CA8080424
747 Q>P No ClinGen
ExAC
TCGA novel 748 L>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA396054723
rs1212723837
749 D>A No ClinGen
gnomAD
CA281587916
rs529861619
749 D>N No ClinGen
Ensembl
rs1464198978
CA396054742
750 Y>H No ClinGen
TOPMed
CA396054744
rs1597814305
750 Y>S No ClinGen
Ensembl
CA396054830
rs1218393423
753 P>L No ClinGen
TOPMed
gnomAD
rs1450179886
CA396054821
753 P>S No ClinGen
gnomAD
CA8080427
rs757529089
754 F>C No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 754 F>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs751345485
CA8080426
754 F>L No ClinGen
ExAC
gnomAD
CA8080429
rs546168124
756 A>V No ClinGen
1000Genomes
ExAC
gnomAD
CA8080430
rs376016442
757 Q>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs370372909
CA8080432
759 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1482370871
CA396054980
760 P>S No ClinGen
TOPMed
CA396055014
rs1318800008
761 G>V No ClinGen
gnomAD
rs1398122691
CA396055030
762 E>V No ClinGen
gnomAD
rs2923147
CA8080437
VAR_030901
766 C>R No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs769387655
CA8080439
767 W>* No ClinGen
ExAC
gnomAD
CA396055121
rs1339646633
767 W>* No ClinGen
gnomAD
TCGA novel 769 A>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs373693140
CA8080440
769 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs751374350
CA8080443
771 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA8080444
rs761526266
771 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA281588043
rs751374350
771 R>S No ClinGen
ExAC
TOPMed
gnomAD
rs1260270212
CA396055211
773 K>R No ClinGen
gnomAD
rs200479497
CA8080445
774 D>G No ClinGen
1000Genomes
ExAC
gnomAD
rs200042804
CA8080447
776 C>R No ClinGen
1000Genomes
ExAC
gnomAD
CA8080448
rs143144591
776 C>Y No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA396055365
rs1158906979
778 S>N No ClinGen
gnomAD
rs1320473851
CA396055374
779 D>N No ClinGen
gnomAD
TCGA novel 781 K>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1302703404
CA396055417
781 K>Q No ClinGen
TOPMed
CA8080451
rs779471085
782 Q>R No ClinGen
ExAC
gnomAD
rs199903829
CA8080454
783 R>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs199903829
CA8080453
783 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs151161042
CA8080452
783 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA396055491
rs1331710035
784 L>P No ClinGen
gnomAD
rs774920292
CA8080457
787 K>Q No ClinGen
ExAC
gnomAD
rs1488206455
CA396055638
789 N>S No ClinGen
gnomAD
CA8080459
rs768477787
792 Q>R No ClinGen
ExAC
gnomAD
CA396055696
rs1157349819
793 A>D No ClinGen
TOPMed
rs140209280
CA8080460
794 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
COSM1238442
rs114443631
CA8080461
794 R>H oesophagus [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA396055712
rs114443631
794 R>P No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1254226048
CA396055731
795 F>S No ClinGen
gnomAD
CA396055759
rs1439742593
797 K>N No ClinGen
gnomAD
rs765396434
CA8080488
798 E>D No ClinGen
ExAC
TOPMed
gnomAD
rs752801600
CA8080489
799 T>A No ClinGen
ExAC
gnomAD
rs1299743557
CA396056386
800 Q>R No ClinGen
gnomAD
CA396056404
rs1328709606
801 E>G No ClinGen
gnomAD
rs1329064271
CA396056455
804 K>E No ClinGen
TOPMed
CA8080492
rs190225489
805 K>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs757581374
CA8080493
808 W>R No ClinGen
ExAC
gnomAD
rs779592390
CA8080494
809 Y>D No ClinGen
ExAC
gnomAD
CA396056610
rs1377002259
812 N>S No ClinGen
TOPMed
CA8080496
rs150285281
813 Q>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8080498
rs115337501
815 T>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1353541962
CA396056668
818 P>S No ClinGen
TOPMed
gnomAD
rs1353541962
CA396056664
818 P>T No ClinGen
TOPMed
gnomAD
rs746793524
CA8080501
819 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs962443485
CA281589991
820 D>G No ClinGen
gnomAD
rs1214909099
CA396056692
820 D>N No ClinGen
gnomAD
rs1165134092
CA396056713
821 E>G No ClinGen
gnomAD
CA8080503
rs548935155
822 D>E No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 822 D>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs765362926
CA8080505
825 L>M No ClinGen
ExAC
gnomAD
rs1387757738
CA396056794
825 L>Q No ClinGen
gnomAD
rs775777958
CA8080506
826 S>N No ClinGen
ExAC
TOPMed
gnomAD
rs781758875
CA8080507
827 Y>* No ClinGen
ExAC
gnomAD
CA8080508
rs145149615
827 Y>D No ClinGen
ESP
ExAC
CA281590018
rs971319281
828 C>G No ClinGen
TOPMed
gnomAD
CA396056830
rs971319281
828 C>R No ClinGen
TOPMed
gnomAD
CA8080510
rs115507227
829 S>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs878943373
CA281590051
832 M>I No ClinGen
Ensembl
rs375531577
CA8080512
832 M>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs757591142
CA8080511
832 M>V No ClinGen
ExAC
gnomAD
rs1229159215
CA396056940
833 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs568917398
CA8080513
COSM971883
834 R>C Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA396056971
rs1215754516
834 R>H No ClinGen
gnomAD
rs149394680
CA8080514
836 R>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs144790676
COSM971884
CA8080515
836 R>H endometrium [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA396057015
rs144790676
836 R>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 839 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA396057138
rs1456270731
840 Q>* No ClinGen
TOPMed
CA8080516
rs369743078
841 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA396057167
rs369743078
841 R>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8080517
rs148521651
841 R>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA8080518
rs148521651
841 R>P No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs974909368
CA281590120
842 L>F No ClinGen
Ensembl
rs555715133
CA8080519
843 N>Y No ClinGen
1000Genomes
ExAC
gnomAD
CA8080520
rs141890324
844 R>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8080522
rs201384152
844 R>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA396057255
rs201384152
844 R>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8080521
rs201384152
844 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs764883309
CA8080532
845 H>Q No ClinGen
ExAC
TOPMed
gnomAD
CA8080533
rs752298452
847 E>G No ClinGen
ExAC
gnomAD
CA396057479
rs1379000716
847 E>K No ClinGen
gnomAD
CA396057526
rs1238542668
848 L>P No ClinGen
gnomAD
rs1176853690
CA396057523
848 L>V No ClinGen
gnomAD
CA8080534
rs563128211
849 A>T No ClinGen
1000Genomes
ExAC
gnomAD
rs1464628947
CA396057556
849 A>V No ClinGen
gnomAD
rs751018314
CA8080536
851 L>P No ClinGen
ExAC
gnomAD
TCGA novel 855 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8080538
rs780923727
858 E>G No ClinGen
ExAC
TOPMed
gnomAD
CA8080537
rs757284736
858 E>K No ClinGen
ExAC
gnomAD
rs1368098045
CA396057942
859 K>N No ClinGen
TOPMed
TCGA novel 860 L>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs773653157
CA8080539
861 Y>H No ClinGen
ExAC
TOPMed
gnomAD
CA8080540
rs376488212
863 D>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA396058018
rs1555576542
863 D>N No ClinGen
Ensembl
CA396058067
rs1200241415
864 P>R No ClinGen
gnomAD
CA8080542
rs182810074
865 R>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA8080543
rs143854478
865 R>H No ClinGen
1000Genomes
ExAC
gnomAD
CA8080544
rs143854478
865 R>P No ClinGen
1000Genomes
ExAC
gnomAD
rs182810074
CA8080541
865 R>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA396058084
rs1431985217
866 L>V No ClinGen
TOPMed
CA396058108
rs1597818494
867 G>W No ClinGen
Ensembl
CA396058138
rs1490866012
868 E>G No ClinGen
TOPMed
rs761797506
CA8080545
868 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs761797506
CA396058121
868 E>Q No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 869 L>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8080546
rs370490683
869 L>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA396058240
rs761050432
873 F>I No ClinGen
ExAC
TOPMed
gnomAD
CA8080548
rs761050432
873 F>L No ClinGen
ExAC
TOPMed
gnomAD
rs754171887
CA396058282
874 A>P No ClinGen
ExAC
TOPMed
gnomAD
rs754171887
CA8080550
874 A>T No ClinGen
ExAC
TOPMed
gnomAD

No associated diseases with Q8IY82

No regional properties for Q8IY82

Type Name Position InterPro Accession
No domain, repeats, and functional sites for Q8IY82

Functions

Description
EC Number
Subcellular Localization
  • Cell projection, cilium, flagellum
  • Cytoplasm, cytoskeleton, cilium axoneme
  • Cytoplasm, cytoskeleton, flagellum axoneme
  • Associated with the outer doublet microtubules (OD)
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

3 GO annotations of cellular component

Name Definition
cytoplasm The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytoskeleton A cellular structure that forms the internal framework of eukaryotic and prokaryotic cells. The cytoskeleton includes intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles.
motile cilium A cilium which may have a variable arrangement of axonemal microtubules and also contains molecular motors. It may beat with a whip-like pattern that promotes cell motility or transport of fluids and other cells across a cell surface, such as on epithelial cells that line the lumenal ducts of various tissues; or they may display a distinct twirling motion that directs fluid flow asymmetrically across the cellular surface to affect asymmetric body plan organization. Motile cilia can be found in single as well as multiple copies per cell.

No GO annotations of molecular function

Name Definition
No GO annotations for molecular function

4 GO annotations of biological process

Name Definition
cell motility Any process involved in the controlled self-propelled movement of a cell that results in translocation of the cell from one place to another.
flagellated sperm motility The directed, self-propelled movement of a cilium (aka flagellum) that contributes to the movement of a flagellated sperm.
sperm axoneme assembly The assembly and organization of the sperm flagellar axoneme, the bundle of microtubules and associated proteins that forms the core of the eukaryotic sperm flagellum, and is responsible for movement.
spermatogenesis The developmental process by which male germ line stem cells self renew or give rise to successive cell types resulting in the development of a spermatozoa.

3 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q2T9M4 DRC7 Dynein regulatory complex subunit 7 Bos taurus (Bovine) PR
G2HE57 DRC7 Dynein regulatory complex subunit 7 Pan troglodytes (Chimpanzee) PR
Q6V3W6 Drc7 Dynein regulatory complex subunit 7 Mus musculus (Mouse) PR
10 20 30 40 50 60
MEVLREKVEE EEEAEREEAA EWAEWARMEK MMRPVEVRKE EITLKQETLR DLEKKLSEIQ
70 80 90 100 110 120
ITVSAELPAF TKDTIDISKL PISYKTNTPK EEHLLQVADN FSRQYSHLCP DRVPLFLHPL
130 140 150 160 170 180
NECEVPKFVS TTLRPTLMPY PELYNWDSCA QFVSDFLTMV PLPDPLKPPS HLYSSTTVLK
190 200 210 220 230 240
YQKGNCFDFS TLLCSMLIGS GYDAYCVNGY GSLDLCHMDL TREVCPLTVK PKETIKKEEK
250 260 270 280 290 300
VLPKKYTIKP PRDLCSRFEQ EQEVKKQQEI RAQEKKRLRE EEERLMEAEK AKPDALHGLR
310 320 330 340 350 360
VHSWVLVLSG KREVPENFFI DPFTGHSYST QDEHFLGIES LWNHKNYWIN MQDCWNCCKD
370 380 390 400 410 420
LIFDLGDPVR WEYMLLGTDK SQLSLTEEDD SGINDEDDVE NLGKEDEDKS FDMPHSWVEQ
430 440 450 460 470 480
IEISPEAFET RCPNGKKVIQ YKRAKLEKWA PYLNSNGLVS RLTTYEDLQC TNILEIKEWY
490 500 510 520 530 540
QNREDMLELK HINKTTDLKT DYFKPGHPQA LRVHSYKSMQ PEMDRVIEFY ETARVDGLMK
550 560 570 580 590 600
REETPRTMTE YYQGRPDFLS YRHASFGPRV KKLTLSSAES NPRPIVKITE RFFRNPAKPA
610 620 630 640 650 660
EEDVAERVFL VAEERIQLRY HCREDHITAS KREFLRRTEV DSKGNKIIMT PDMCISFEVE
670 680 690 700 710 720
PMEHTKKLLY QYEAMMHLKR EEKLSRHQVW ESELEVLEIL KLREEEEAAH TLTISIYDTK
730 740 750 760 770 780
RNEKSKEYRE AMERMMHEEH LRQVETQLDY LAPFLAQLPP GEKLTCWQAV RLKDECLSDF
790 800 810 820 830 840
KQRLINKANL IQARFEKETQ ELQKKQQWYQ ENQVTLTPED EDLYLSYCSQ AMFRIRILEQ
850 860 870
RLNRHKELAP LKYLALEEKL YKDPRLGELQ KIFA