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

1 structures for O60503

Entry ID Method Resolution Chain Position Source
AF-O60503-F1 Predicted AlphaFoldDB

1186 variants for O60503

Variant ID(s) Position Change Description Diseaes Association Provenance
rs2056001007
RCV001262985
1033 R>T Neurodevelopmental disorder [ClinVar] Yes ClinVar
dbSNP
CA7871911
rs56119296
2 A>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7871912
rs752627556
2 A>S No ClinGen
ExAC
gnomAD
rs752627556
CA7871913
2 A>T No ClinGen
ExAC
gnomAD
CA7871910
rs754433408
3 S>F No ClinGen
ExAC
rs765879734
CA7871908
4 P>A No ClinGen
ExAC
gnomAD
CA7871907
rs762248020
4 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA7871909
rs765879734
4 P>S No ClinGen
ExAC
gnomAD
rs764512255
CA7871905
5 P>S No ClinGen
ExAC
gnomAD
rs776121171
CA7871903
6 H>N No ClinGen
ExAC
CA277038079
rs568010470
6 H>P No ClinGen
1000Genomes
CA394579820
rs1567155029
7 Q>E No ClinGen
Ensembl
CA7871902
rs772304800
7 Q>H No ClinGen
ExAC
rs1046007898
CA277038071
8 Q>R No ClinGen
TOPMed
gnomAD
CA394579796
rs1379627490
11 H>D No ClinGen
gnomAD
CA7871901
rs759652644
12 H>Q No ClinGen
ExAC
gnomAD
CA394579774
rs1212732397
CA394579775
13 H>Q No ClinGen
TOPMed
rs1445807017
CA394579769
14 S>N No ClinGen
gnomAD
rs1331499494
CA394579761
15 T>S No ClinGen
gnomAD
rs1597238032
CA394579748
17 V>G No ClinGen
Ensembl
CA394579733
rs771001767
19 C>F No ClinGen
ExAC
gnomAD
CA7871899
rs771001767
19 C>Y No ClinGen
ExAC
gnomAD
CA7871898
rs749514225
20 D>H No ClinGen
ExAC
gnomAD
CA394579716
rs769603116
22 S>C No ClinGen
ExAC
TOPMed
gnomAD
CA7871896
rs769603116
22 S>G No ClinGen
ExAC
TOPMed
gnomAD
CA394579689
rs1457391886
25 S>R No ClinGen
gnomAD
CA7871894
rs781065829
26 N>S No ClinGen
ExAC
gnomAD
CA394579680
rs1224065891
27 S>G No ClinGen
gnomAD
CA7871893
rs754488479
28 V>A No ClinGen
ExAC
gnomAD
CA277038030
rs866281724
29 R>C No ClinGen
Ensembl
rs974633473
CA277038024
29 R>P No ClinGen
Ensembl
rs779598125
CA7871891
32 I>F No ClinGen
ExAC
gnomAD
rs750058500
CA7871889
35 K>R No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 36 Q>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1367923371
CA394579612
37 L>P No ClinGen
gnomAD
rs1294765504
CA394579608
38 S>A No ClinGen
gnomAD
CA394579605
rs1436842993
38 S>F No ClinGen
gnomAD
rs761074346
CA7871887
39 S>F No ClinGen
ExAC
TOPMed
gnomAD
CA7871885
rs768073914
40 N>K No ClinGen
ExAC
gnomAD
rs753290289
CA7871886
40 N>S No ClinGen
ExAC
gnomAD
TCGA novel 40 N>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs370117453
CA7871884
41 S>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7871882
rs771039334
42 H>N No ClinGen
ExAC
TOPMed
gnomAD
CA394579585
rs771039334
42 H>Y No ClinGen
ExAC
TOPMed
gnomAD
CA394579574
rs1192986261
43 P>R No ClinGen
gnomAD
rs1378608182
CA394579577
43 P>S No ClinGen
gnomAD
rs763126371
CA7871881
44 K>E No ClinGen
ExAC
gnomAD
rs1439793065
CA394579571
44 K>T No ClinGen
gnomAD
CA394579561
rs1219599466
45 H>Q No ClinGen
gnomAD
rs979015601
CA277037979
45 H>R No ClinGen
Ensembl
rs773462672
CA7871880
46 C>R No ClinGen
ExAC
rs1019989038
CA277037973
49 S>G No ClinGen
TOPMed
CA394579515
rs1279721401
52 S>P No ClinGen
TOPMed
rs776562561
CA7871877
54 C>S No ClinGen
ExAC
gnomAD
CA277037955
rs3730095
56 S>R No ClinGen
TOPMed
rs768638075
CA7871876
58 G>A No ClinGen
ExAC
TOPMed
gnomAD
CA394579473
rs1219284190
58 G>R No ClinGen
gnomAD
rs1219284190
CA394579474
58 G>W No ClinGen
gnomAD
rs1213690327
CA394579463
59 D>E No ClinGen
TOPMed
CA7871874
rs746941841
59 D>V No ClinGen
ExAC
TOPMed
gnomAD
rs757900535
CA7871873
61 G>E No ClinGen
ExAC
gnomAD
CA394579455
CA394579456
rs1401387089
61 G>R No ClinGen
TOPMed
gnomAD
rs757900535
CA7871872
61 G>V No ClinGen
ExAC
gnomAD
CA277037924
rs1027269999
62 G>D No ClinGen
TOPMed
CA7871869
rs147045155
63 V>F No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs141403076
CA7871868
64 P>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs141403076
CA277037912
64 P>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 66 R>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1189707806
CA394579430
66 R>P No ClinGen
gnomAD
rs1478918264
CA394579424
67 V>A No ClinGen
gnomAD
rs1435229101
CA394579410
70 G>R Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA394579404
rs1215592437
71 G>S No ClinGen
gnomAD
CA7871867
rs767980128
71 G>V No ClinGen
ExAC
gnomAD
rs755610495
CA7871866
72 R>G No ClinGen
ExAC
gnomAD
rs543810324
CA7871865
72 R>Q No ClinGen
1000Genomes
ExAC
gnomAD
rs755610495
CA394579399
72 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA277037887
rs3730096
73 L>M No ClinGen
Ensembl
rs766419542
CA7871864
74 R>C No ClinGen
ExAC
gnomAD
rs1298480719
CA394579388
74 R>L No ClinGen
gnomAD
CA7871863
rs747861796
75 R>S No ClinGen
ExAC
rs773308825
CA7871860
77 K>N No ClinGen
ExAC
TOPMed
gnomAD
rs1175396512
CA394579369
77 K>T No ClinGen
TOPMed
rs765384924
CA7871859
78 K>Q No ClinGen
ExAC
gnomAD
CA7871858
rs762008889
78 K>R No ClinGen
ExAC
gnomAD
CA7871857
rs776473094
79 L>V No ClinGen
ExAC
gnomAD
CA394579318
rs1466953011
82 L>P No ClinGen
gnomAD
TCGA novel 82 L>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA7871856
rs768406341
82 L>V No ClinGen
ExAC
gnomAD
CA394579289
rs1174368720
84 E>Q No ClinGen
TOPMed
gnomAD
CA394579271
rs1467421242
85 R>G No ClinGen
gnomAD
rs374090597
CA277037829
86 A>V No ClinGen
ESP
TOPMed
CA7871854
rs775447524
87 S>C No ClinGen
ExAC
gnomAD
CA394579239
rs1278412037
87 S>T No ClinGen
TOPMed
CA394579141
rs1193160523
92 D>N No ClinGen
gnomAD
CA394579121
rs1476734982
93 P>T No ClinGen
gnomAD
rs139324997
CA7871853
94 K>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7871852
rs139324997
94 K>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA277037817
rs575082493
98 V>A No ClinGen
1000Genomes
TOPMed
gnomAD
CA7871850
rs757033157
99 N>K No ClinGen
ExAC
TOPMed
gnomAD
rs748944336
CA7871849
100 L>Q No ClinGen
ExAC
gnomAD
rs755373968
CA7871847
102 E>V No ClinGen
ExAC
gnomAD
rs1275618342
CA394578948
103 A>D No ClinGen
TOPMed
rs1436273390
CA394578941
104 C>S No ClinGen
TOPMed
TCGA novel 104 C>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA394578927
rs1334856634
106 E>D No ClinGen
gnomAD
rs756054360
CA277037804
106 E>G No ClinGen
Ensembl
CA394578932
rs1379046528
106 E>K No ClinGen
TOPMed
gnomAD
rs766841271
CA7871845
107 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs1401077456
CA394578922
107 R>H No ClinGen
TOPMed
gnomAD
CA394578923
rs1401077456
107 R>L No ClinGen
TOPMed
gnomAD
rs766841271
CA394578925
107 R>S No ClinGen
ExAC
TOPMed
gnomAD
rs1170239251
CA394578919
108 C>R No ClinGen
gnomAD
CA394578907
rs1220928449
109 F>C No ClinGen
Ensembl
CA394578887
rs1398415416
112 T>S No ClinGen
TOPMed
CA394578882
rs1370031476
113 Q>E No ClinGen
gnomAD
rs1327708133
CA394578873
114 R>H No ClinGen
TOPMed
CA7871843
rs750572939
114 R>S No ClinGen
ExAC
gnomAD
CA7871841
rs762058083
115 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs762058083
CA7871842
115 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA394578867
rs1597237616
116 F>L No ClinGen
Ensembl
CA394578865
rs1597237616
116 F>V No ClinGen
Ensembl
rs376968312
CA277037783
120 L>V No ClinGen
ESP
TOPMed
gnomAD
rs776808117
CA394578828
121 F>L No ClinGen
ExAC
TOPMed
gnomAD
rs763895687
CA7871839
123 I>L No ClinGen
ExAC
gnomAD
rs763895687
CA394578818
123 I>V No ClinGen
ExAC
gnomAD
rs775297017
CA7871837
124 G>C No ClinGen
ExAC
TOPMed
gnomAD
rs775297017
CA394578812
124 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs892102546
CA277037763
125 F>L No ClinGen
Ensembl
CA394578798
rs1211895946
126 A>V No ClinGen
TOPMed
CA394578793
rs1313597002
127 C>S No ClinGen
gnomAD
rs770534868
CA7871833
128 L>F No ClinGen
ExAC
gnomAD
CA394578775
rs1597237557
130 W>G No ClinGen
Ensembl
CA277037755
rs936383709
131 S>G No ClinGen
Ensembl
rs1393106457
CA394578755
132 I>M No ClinGen
gnomAD
rs777520727
CA7871831
133 Y>C No ClinGen
ExAC
TOPMed
gnomAD
CA394578736
rs1383108014
135 A>E No ClinGen
gnomAD
rs768904794
CA7871830
135 A>T No ClinGen
ExAC
gnomAD
rs780267565
CA7871828
137 H>R No ClinGen
ExAC
TOPMed
gnomAD
rs200248947
CA7871827
138 M>L No ClinGen
ExAC
TOPMed
gnomAD
rs200248947
CA394578721
138 M>V No ClinGen
ExAC
TOPMed
gnomAD
CA394578707
rs750860680
CA394578708
139 R>S No ClinGen
ExAC
TOPMed
gnomAD
rs750363911
CA277037716
140 S>Y No ClinGen
TOPMed
gnomAD
CA394578697
rs1488363767
141 R>I No ClinGen
gnomAD
CA7871823
rs754087926
142 L>V No ClinGen
ExAC
gnomAD
CA394578690
rs1219505152
143 I>L No ClinGen
gnomAD
CA7871821
rs760401817
144 V>G No ClinGen
ExAC
TOPMed
gnomAD
CA277037688
rs780969833
145 M>V No ClinGen
TOPMed
CA7871819
rs767211997
146 V>A No ClinGen
ExAC
gnomAD
CA7871817
rs774411935
147 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA394578659
rs1325217251
148 P>A No ClinGen
TOPMed
CA394578655
rs1363549446
148 P>L No ClinGen
gnomAD
TCGA novel 149 A>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 149 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA277037669
rs988893119
151 C>G No ClinGen
TOPMed
gnomAD
rs3730098
CA7871814
153 L>F No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA394578627
rs3730098
153 L>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA394578609
rs1486206946
156 C>Y No ClinGen
TOPMed
rs1479243093
CA394578601
157 V>A No ClinGen
gnomAD
rs769541796
CA7871813
157 V>M No ClinGen
ExAC
gnomAD
TCGA novel 158 G>W Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1196255044
CA394578584
160 F>L No ClinGen
gnomAD
rs1203860717
CA394578554
164 F>C No ClinGen
gnomAD
rs559120093
CA7871809
164 F>L No ClinGen
1000Genomes
ExAC
gnomAD
rs757336207
CA7871808
166 K>N No ClinGen
ExAC
gnomAD
rs1263678822
CA394578541
166 K>R No ClinGen
TOPMed
rs777817807
CA7871805
167 L>R No ClinGen
ExAC
gnomAD
CA394578537
rs753858086
167 L>V No ClinGen
ExAC
gnomAD
rs944073479
CA277037622
168 Y>C No ClinGen
TOPMed
gnomAD
rs376711313
CA7871802
169 A>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs376711313
CA7871803
169 A>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1339557327
CA394578524
169 A>V No ClinGen
gnomAD
rs751581722
CA394578523
170 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA394578521
rs1475963820
170 R>Q No ClinGen
TOPMed
rs751581722
CA7871800
170 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs570699984
CA7871799
171 H>D No ClinGen
1000Genomes
ExAC
gnomAD
CA394578515
rs1162302294
171 H>L No ClinGen
TOPMed
CA394578499
rs1453783151
173 A>V No ClinGen
TOPMed
rs142649683
CA7871796
175 T>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA394578479
rs1478370114
176 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs746163052
CA7871792
178 A>P No ClinGen
ExAC
gnomAD
rs746163052
CA7871793
178 A>S No ClinGen
ExAC
gnomAD
rs774854033
CA394578468
179 L>F No ClinGen
ExAC
gnomAD
CA394578467
rs1313846833
179 L>H No ClinGen
TOPMed
rs774854033
CA7871791
179 L>V No ClinGen
ExAC
gnomAD
rs1260274417
CA394578457
181 L>V No ClinGen
gnomAD
rs1219412837
CA394578453
182 L>M No ClinGen
gnomAD
CA394578444
rs1450203334
183 V>E No ClinGen
gnomAD
CA394578445
rs1450203334
183 V>G No ClinGen
gnomAD
rs1268181203
CA394578446
183 V>L No ClinGen
gnomAD
rs777948652
CA7871788
185 A>T No ClinGen
ExAC
gnomAD
CA7871787
rs190107269
186 L>V No ClinGen
1000Genomes
ExAC
gnomAD
CA394578418
rs1170954189
188 L>M No ClinGen
gnomAD
CA7871786
rs370902956
190 A>T No ClinGen
ESP
ExAC
gnomAD
CA394578404
rs1419334163
190 A>V No ClinGen
gnomAD
CA394578399
rs1166486146
191 Q>R No ClinGen
gnomAD
rs72556392
CA394578388
192 F>L No ClinGen
TOPMed
CA7871785
rs781234631
195 L>S No ClinGen
ExAC
gnomAD
rs548157811
CA7871784
196 T>K No ClinGen
1000Genomes
ExAC
gnomAD
rs548157811
CA277037538
196 T>R No ClinGen
1000Genomes
ExAC
gnomAD
rs374051508
CA7871783
197 P>A No ClinGen
ExAC
TOPMed
gnomAD
CA394578338
rs1270666820
201 R>C No ClinGen
gnomAD
CA7871780
rs750360400
201 R>H No ClinGen
ExAC
gnomAD
rs761188131
CA7871779
202 G>A No ClinGen
ExAC
TOPMed
gnomAD
rs761188131
CA7871778
202 G>D No ClinGen
ExAC
TOPMed
gnomAD
rs1356724708
CA394578335
202 G>S No ClinGen
TOPMed
gnomAD
CA7871777
rs143296765
203 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
gnomAD
CA394578323
rs1445635187
204 S>G No ClinGen
gnomAD
rs565323545
CA277037502
205 S>C No ClinGen
1000Genomes
TOPMed
gnomAD
rs147707598
CA7871776
206 N>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA277037475
rs377300070
207 L>I No ClinGen
ESP
TOPMed
CA394578295
rs1174760230
208 T>K No ClinGen
TOPMed
CA394578294
rs1174760230
208 T>M No ClinGen
TOPMed
rs774765745
CA7871775
209 A>D No ClinGen
ExAC
TOPMed
gnomAD
CA394578292
rs1159680210
209 A>T No ClinGen
gnomAD
CA7871774
rs774765745
209 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA7871773
rs771254861
210 T>A No ClinGen
ExAC
gnomAD
CA7871772
rs749847952
210 T>I No ClinGen
ExAC
gnomAD
CA394578289
rs771254861
210 T>P No ClinGen
ExAC
gnomAD
TCGA novel 211 A>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA394578275
rs1441874703
212 R>Q Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA7871770
rs769951663
213 P>L No ClinGen
ExAC
gnomAD
CA7871767
rs755314870
215 D>G No ClinGen
ExAC
TOPMed
gnomAD
CA7871768
rs372461075
215 D>H No ClinGen
ExAC
gnomAD
rs372461075
CA394578263
215 D>Y Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs780039488
CA7871765
217 C>G No ClinGen
ExAC
TOPMed
gnomAD
CA7871764
rs750404297
217 C>W No ClinGen
ExAC
gnomAD
rs1335201294
CA394578239
218 L>F No ClinGen
TOPMed
rs1355729315
CA394578242
218 L>S No ClinGen
gnomAD
CA394578233
rs1309416274
219 S>F No ClinGen
gnomAD
TCGA novel 221 V>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1222731167
CA394578218
222 G>R No ClinGen
TOPMed
gnomAD
CA7871761
rs532077124
226 M>T No ClinGen
1000Genomes
ExAC
gnomAD
CA394578177
rs1436683498
227 C>F No ClinGen
gnomAD
CA277037359
rs892137966
228 I>V No ClinGen
gnomAD
TCGA novel 230 V>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA277037357
rs201211738
230 V>M No ClinGen
ESP
gnomAD
TCGA novel 231 L>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 232 F>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1362978468
CA394578138
233 L>S No ClinGen
TOPMed
gnomAD
rs1400222331
CA394578132
234 L>F No ClinGen
gnomAD
CA7871759
rs61731442
236 T>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs760361419
CA7871758
236 T>I No ClinGen
ExAC
gnomAD
rs766756605
COSM3691002
CA7871756
237 V>I Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
TCGA novel 238 M>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1489121445
CA394578107
238 M>T No ClinGen
gnomAD
COSM249236
rs763267565
CA7871755
239 H>Y kidney [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
CA277037335
rs1052767711
241 P>A No ClinGen
TOPMed
gnomAD
rs1344439158
CA394578080
242 L>S No ClinGen
gnomAD
rs1433462978
CA394578059
245 S>N No ClinGen
TOPMed
rs1175766949
CA394578052
246 L>S No ClinGen
TOPMed
rs776612058
CA7871750
247 C>* No ClinGen
ExAC
TOPMed
gnomAD
CA7871751
rs762374861
247 C>F No ClinGen
ExAC
TOPMed
gnomAD
CA394578038
rs1296621515
248 L>R No ClinGen
TOPMed
CA394578028
rs1597237062
250 V>G No ClinGen
Ensembl
rs768831553
CA7871749
251 A>T No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 253 S>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1343569759
CA394577577
254 V>I No ClinGen
gnomAD
rs1178319547
CA394577570
255 L>I No ClinGen
gnomAD
rs200048380
CA277037297
257 E>* No ClinGen
Ensembl
rs747253577
CA277037292
258 T>A No ClinGen
ExAC
TOPMed
gnomAD
rs747253577
CA7871748
258 T>S No ClinGen
ExAC
TOPMed
gnomAD
rs368901949
CA394577528
261 Y>C No ClinGen
ESP
ExAC
gnomAD
rs368901949
CA7871747
261 Y>F No ClinGen
ESP
ExAC
gnomAD
rs1174500970
CA394577515
263 F>V No ClinGen
gnomAD
CA394577506
rs1478684312
264 R>P No ClinGen
TOPMed
gnomAD
rs1478684312
CA394577505
264 R>Q No ClinGen
TOPMed
gnomAD
CA277037288
rs72556391
267 A>S No ClinGen
Ensembl
rs932826873
CA277037281
270 P>L No ClinGen
TOPMed
CA394577464
rs932826873
270 P>R No ClinGen
TOPMed
CA7871745
rs745590145
270 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA394577460
rs757209625
271 S>* No ClinGen
ExAC
TOPMed
gnomAD
rs757209625
CA7871743
271 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA7871744
rs757209625
271 S>W No ClinGen
ExAC
TOPMed
gnomAD
CA7871741
rs777313389
272 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs752382002
CA7871739
273 G>E No ClinGen
ExAC
TOPMed
gnomAD
rs1168785469
CA394577441
275 G>R No ClinGen
TOPMed
rs1382222998
CA394577435
276 A>D No ClinGen
gnomAD
CA277037246
rs1028325436
276 A>T No ClinGen
TOPMed
CA7871735
rs765602708
278 H>P No ClinGen
ExAC
TOPMed
gnomAD
rs1405359188
CA394577417
279 W>S No ClinGen
gnomAD
rs558982401
CA7871733
280 E>K No ClinGen
1000Genomes
ExAC
gnomAD
CA7871732
rs768888768
283 S>N No ClinGen
ExAC
gnomAD
CA394577377
rs868541812
285 G>A No ClinGen
TOPMed
CA277037229
rs868541812
285 G>E No ClinGen
TOPMed
TCGA novel 286 L>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA394577366
rs1426708299
287 L>P No ClinGen
TOPMed
gnomAD
CA394577363
rs1316894899
288 H>D No ClinGen
TOPMed
CA394577357
rs746100827
288 H>Q No ClinGen
ExAC
gnomAD
CA394577360
rs1182333700
288 H>R No ClinGen
gnomAD
CA277037212
rs1042847369
289 G>C No ClinGen
TOPMed
rs778614555
CA7871727
289 G>V No ClinGen
ExAC
gnomAD
rs762721284
CA394577332
292 H>Q No ClinGen
ExAC
TOPMed
gnomAD
CA277037206
rs1011387266
292 H>R No ClinGen
TOPMed
CA7871725
rs749207045
296 V>F No ClinGen
ExAC
gnomAD
TCGA novel 299 F>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs969206888
CA14275568
299 F>V No ClinGen
Ensembl
rs1334785327
CA394577283
300 V>D No ClinGen
gnomAD
CA7871722
rs182142664
300 V>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA7871721
rs182142664
300 V>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA394577282
rs1167320340
301 M>L No ClinGen
TOPMed
CA7871720
rs754624245
301 M>T No ClinGen
ExAC
gnomAD
CA394577281
rs1167320340
301 M>V No ClinGen
TOPMed
rs751199997
CA7871719
302 S>C No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 302 S>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA7871717
rs757597955
303 Q>L No ClinGen
ExAC
TOPMed
gnomAD
rs576483205
CA7871716
308 S>N No ClinGen
1000Genomes
ExAC
gnomAD
CA277037068
rs867701778
309 T>A No ClinGen
Ensembl
rs556349980
CA7871715
309 T>I No ClinGen
1000Genomes
ExAC
gnomAD
CA394577228
rs867701778
309 T>P No ClinGen
Ensembl
rs1439974261
CA394577207
312 K>R No ClinGen
TOPMed
gnomAD
CA7871712
rs537274554
313 V>A No ClinGen
1000Genomes
ExAC
gnomAD
rs375980146
CA7871713
313 V>M No ClinGen
ESP
ExAC
gnomAD
rs1479871377
CA394577195
314 G>A No ClinGen
gnomAD
CA277037042
rs956875050
315 Q>R No ClinGen
TOPMed
rs1339551930
CA394577181
316 S>F No ClinGen
TOPMed
rs568140024
CA7871710
317 I>V No ClinGen
1000Genomes
ExAC
gnomAD
rs770666782
CA7871709
318 M>R No ClinGen
ExAC
gnomAD
CA394577172
rs1415189861
318 M>V No ClinGen
TOPMed
CA394577156
rs1242429238
320 G>W No ClinGen
gnomAD
rs1336380199
CA394577132
323 L>R No ClinGen
gnomAD
CA394577101
rs1306562915
328 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1369534593
CA394577063
333 M>T No ClinGen
gnomAD
CA277037024
rs372743404
333 M>V No ClinGen
ESP
CA7871706
rs769785025
340 R>G No ClinGen
ExAC
gnomAD
CA7871704
rs780726526
340 R>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs780726526
CA7871705
340 R>T No ClinGen
ExAC
TOPMed
gnomAD
rs754458281
CA7871703
341 I>V No ClinGen
ExAC
gnomAD
rs928250503
CA277036990
342 I>V No ClinGen
TOPMed
gnomAD
TCGA novel 343 A>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA394576993
rs779690355
344 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs779690355
CA7871701
344 D>Y No ClinGen
ExAC
gnomAD
CA7871700
rs757575136
346 L>F No ClinGen
ExAC
gnomAD
CA394576973
rs1271553193
347 M>L No ClinGen
gnomAD
rs1200578115
CA394576919
350 G>V No ClinGen
gnomAD
CA394576893
rs1490276002
352 E>* No ClinGen
gnomAD
rs1490276002
CA394576894
352 E>K No ClinGen
gnomAD
TCGA novel 352 E>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs369684993
CA7871699
353 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs751868048 353 E>missing Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
rs764548396
CA7871697
354 S>N No ClinGen
ExAC
TOPMed
gnomAD
rs756727246
CA7871696
356 N>S No ClinGen
ExAC
TOPMed
gnomAD
rs146513626
CA277036961
358 V>I No ClinGen
ESP
TOPMed
gnomAD
rs146513626
CA394576791
358 V>L No ClinGen
ESP
TOPMed
gnomAD
CA394576756
rs1314132001
360 R>K No ClinGen
gnomAD
rs2230738
CA394576749
360 R>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1404132897
CA394576741
361 H>L No ClinGen
gnomAD
CA277036942
rs867660253
362 A>V No ClinGen
Ensembl
rs1567153968
CA394576711
363 T>N No ClinGen
Ensembl
CA7871693
rs145790925
364 S>L No ClinGen
1000Genomes
ExAC
gnomAD
rs145790925
CA7871692
364 S>W No ClinGen
1000Genomes
ExAC
gnomAD
rs1159195754
CA394576654
366 P>L No ClinGen
TOPMed
CA394576651
rs1416549660
367 K>E No ClinGen
gnomAD
CA7871691
rs766569464
368 N>D No ClinGen
ExAC
gnomAD
rs1399055693
CA394576617
369 R>G No ClinGen
TOPMed
CA7871689
rs773061605
372 K>E No ClinGen
ExAC
gnomAD
CA394576539
rs1487646686
373 S>F No ClinGen
gnomAD
TCGA novel 373 S>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs769550957
CA7871688
374 S>F No ClinGen
ExAC
gnomAD
rs1480318921
CA394576500
376 Q>P No ClinGen
gnomAD
rs748103177
CA7871687
378 A>G No ClinGen
ExAC
TOPMed
gnomAD
CA394576440
rs1446904270
380 I>V No ClinGen
TOPMed
rs77179994
CA277036922
381 A>D No ClinGen
Ensembl
CA394576421
rs1423803239
381 A>P No ClinGen
Ensembl
TCGA novel 385 F>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 389 Q>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs146234753
CA7871686
390 I>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA394576314
rs1597236628
391 E>D No ClinGen
Ensembl
rs1203445175
CA394576320
391 E>Q No ClinGen
gnomAD
rs1285862685
CA394576285
395 I>M No ClinGen
TOPMed
CA277036899
rs900011883
400 I>T No ClinGen
Ensembl
rs1041197324
CA277036892
405 K>N No ClinGen
gnomAD
CA394576131
rs1213446163
406 M>L No ClinGen
TOPMed
CA394576089
rs1321227540
408 A>T No ClinGen
gnomAD
rs368028914
CA7871682
414 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7871680
rs778333072
421 D>H No ClinGen
ExAC
TOPMed
gnomAD
rs778333072
CA7871681
421 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA394575880
rs778333072
421 D>Y No ClinGen
ExAC
TOPMed
gnomAD
CA394575830
rs1467893003
424 G>S No ClinGen
gnomAD
CA7871679
rs756499869
425 R>S No ClinGen
ExAC
gnomAD
CA394575783
rs1597236541
427 D>A No ClinGen
Ensembl
CA7871675
rs751721888
CA394575734
431 E>D No ClinGen
ExAC
gnomAD
CA394575720
rs1203348462
433 T>I No ClinGen
gnomAD
rs750592614
CA7871672
438 I>F No ClinGen
ExAC
gnomAD
CA394575683
rs1338456430
438 I>S No ClinGen
gnomAD
rs1329057812
CA394575662
442 G>R No ClinGen
TOPMed
CA277036803
rs1011355973
444 C>G No ClinGen
TOPMed
gnomAD
CA394575648
rs1011355973
444 C>S No ClinGen
TOPMed
gnomAD
CA7871668
rs768695964
444 C>S No ClinGen
ExAC
gnomAD
rs1410909710
CA394575636
445 Y>* No ClinGen
TOPMed
gnomAD
rs760522585
CA7871667
445 Y>H No ClinGen
ExAC
gnomAD
CA394575619
rs1237196606
448 V>M No ClinGen
TOPMed
TCGA novel 450 G>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA394575598
rs1166720360
451 C>F No ClinGen
gnomAD
CA277036785
rs267604544
452 P>S No ClinGen
1000Genomes
ExAC
gnomAD
CA7871665
rs267604544
452 P>T No ClinGen
1000Genomes
ExAC
gnomAD
CA394575582
rs1442803909
CA394575583
453 E>D No ClinGen
gnomAD
CA394575589
rs1183037749
453 E>K No ClinGen
gnomAD
CA394575585
rs1212912328
453 E>V No ClinGen
TOPMed
gnomAD
CA277036779
rs919904291
454 P>L No ClinGen
Ensembl
rs555844213
CA277036780
454 P>S No ClinGen
gnomAD
CA7871663
rs778668576
455 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA394575573
rs1454638576
456 A>T No ClinGen
TOPMed
CA277036761
rs553450429
457 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs553450429
CA7871661
457 D>Y No ClinGen
ExAC
gnomAD
CA394575548
rs1360029703
459 A>V No ClinGen
gnomAD
CA394575544
rs1243169687
460 Y>C No ClinGen
gnomAD
rs1374827118
CA394575534
461 C>F No ClinGen
gnomAD
rs1279775912
CA394575515
464 E>Q No ClinGen
gnomAD
rs1279089422
CA394575484
468 G>A No ClinGen
gnomAD
rs1335610846
CA394575478
469 M>T No ClinGen
gnomAD
rs1402138976
CA394575480
469 M>V No ClinGen
TOPMed
gnomAD
COSM378209
CA7871657
rs780202392
471 K>M lung [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs1366756354
CA394575454
472 A>V No ClinGen
gnomAD
CA394575451
rs1422823034
473 I>F No ClinGen
TOPMed
gnomAD
rs750643399
CA7871655
473 I>N No ClinGen
ExAC
gnomAD
rs1422823034
CA394575453
473 I>V No ClinGen
TOPMed
gnomAD
rs762008865
CA7871653
474 E>D No ClinGen
ExAC
gnomAD
CA394575421
rs1567153730
477 C>F No ClinGen
Ensembl
rs1052960850
CA277036703
478 Q>R No ClinGen
TOPMed
gnomAD
CA394575394
rs1201292164
480 K>N No ClinGen
gnomAD
TCGA novel 481 K>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA7871652
rs561305813
481 K>E No ClinGen
1000Genomes
ExAC
gnomAD
rs1293349685
CA394575391
481 K>T No ClinGen
TOPMed
gnomAD
rs1442487024
CA394575376
483 M>L No ClinGen
TOPMed
CA7871651
rs763763787
484 V>M No ClinGen
ExAC
gnomAD
rs1220075332
CA394575342
487 R>S No ClinGen
gnomAD
rs775201693
CA277036695
490 V>G No ClinGen
gnomAD
TCGA novel 490 V>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA7871650
rs760715810
492 T>M No ClinGen
ExAC
gnomAD
rs1348071139
CA394575303
494 T>A No ClinGen
gnomAD
rs1284749752
CA394575296
495 V>I No ClinGen
gnomAD
rs759050637
CA7871647
497 C>* No ClinGen
ExAC
gnomAD
TCGA novel 498 G>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 501 G>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1346467918
CA394575252
502 M>K No ClinGen
gnomAD
CA277036654
rs200124999
503 R>G No ClinGen
Ensembl
rs774163987
CA7871646
503 R>S No ClinGen
ExAC
TOPMed
gnomAD
rs748890582
CA7871645
504 R>S No ClinGen
ExAC
gnomAD
rs1597236269
CA394575233
505 F>V No ClinGen
Ensembl
TCGA novel 509 V>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 510 W>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs747579417
CA7871641
513 D>H No ClinGen
ExAC
gnomAD
CA394575167
rs1406093665
514 V>M No ClinGen
TOPMed
gnomAD
rs1597236253
CA394575158
515 N>T No ClinGen
Ensembl
CA394575127
rs780468630
520 M>L No ClinGen
ExAC
gnomAD
CA7871640
rs780468630
520 M>V No ClinGen
ExAC
gnomAD
rs778957387
CA7871637
524 G>A No ClinGen
ExAC
gnomAD
rs1272349904
CA394575099
524 G>R No ClinGen
TOPMed
CA394575094
rs1242242611
525 V>M No ClinGen
TOPMed
gnomAD
CA7871635
rs371561050
527 G>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1469842444
CA394575072
528 K>R No ClinGen
TOPMed
CA394575064
rs1597236208
529 V>G No ClinGen
Ensembl
rs1597236206
CA394575060
530 H>P No ClinGen
Ensembl
CA277036592
rs72556393
531 I>N No ClinGen
Ensembl
rs1265100094
CA394575038
533 E>V No ClinGen
TOPMed
CA394575033
rs1451023510
534 A>D No ClinGen
TOPMed
rs752686280
CA7871632
534 A>P No ClinGen
ExAC
gnomAD
rs1597236177
CA394575029
535 T>A No ClinGen
Ensembl
CA7871631
rs767505370
535 T>I No ClinGen
ExAC
TOPMed
gnomAD
CA7871629
rs565530412
537 K>E No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs765960096
CA7871628
538 Y>C No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 538 Y>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs534906920
CA277036570
540 D>H No ClinGen
Ensembl
rs148530006
CA7871627
541 D>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
COSM178873
rs772697228
CA7871626
544 E>K Variant assessed as Somatic; 0.0 impact. large_intestine breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA7871624
rs374304621
546 E>D No ClinGen
ESP
ExAC
gnomAD
rs144747548
CA7871625
546 E>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7871623
rs545435610
547 D>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA7871622
rs772631736
548 G>R No ClinGen
ExAC
gnomAD
CA277036534
rs1028632033
550 V>I No ClinGen
TOPMed
rs779012578
CA7871620
551 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA394574908
rs1244428187
553 R>Q No ClinGen
gnomAD
CA394574897
rs1399804998
555 G>D Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA394574890
rs1460578914
556 Q>R No ClinGen
gnomAD
rs777791572
CA7871617
557 S>R No ClinGen
ExAC
gnomAD
rs767419142
CA7871614
CA7871616
558 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs767419142
CA7871615
COSM1182053
558 V>M large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
TCGA novel 559 V>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA394574858
rs1296928581
561 D>E No ClinGen
gnomAD
CA7871612
RCV000971153
rs52791170
564 K>Q No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs766014253
CA7871611
564 K>T No ClinGen
ExAC
gnomAD
CA277014685
rs974084624
565 G>D No ClinGen
Ensembl
TCGA novel 566 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA394581101
rs1358886221
566 L>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
TCGA novel 568 T>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA394581082
rs1317725141
568 T>I No ClinGen
gnomAD
CA7871576
rs375887137
572 S>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA394581061
rs748406740
572 S>P No ClinGen
ExAC
TOPMed
gnomAD
CA7871578
rs748406740
572 S>T No ClinGen
ExAC
TOPMed
gnomAD
CA7871577
rs375887137
572 S>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs527706058
CA277014667
574 Q>P No ClinGen
Ensembl
CA394581042
rs1157829648
575 R>T No ClinGen
TOPMed
CA394581033
rs1402669553
576 A>V No ClinGen
TOPMed
rs758306629
CA7871573
578 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA394581024
rs758306629
578 E>Q No ClinGen
ExAC
TOPMed
gnomAD
rs778307855
CA7871572
579 S>C No ClinGen
ExAC
gnomAD
CA7871571
rs778307855
579 S>F No ClinGen
ExAC
gnomAD
rs144065949
CA7871570
RCV000906335
580 R>C No ClinGen
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA394581011
rs1362893267
580 R>H No ClinGen
gnomAD
CA394580988
rs1471821175
583 C>S No ClinGen
gnomAD
rs1431883830
CA394580982
584 A>S No ClinGen
gnomAD
rs763678836
CA7871568
586 A>T No ClinGen
ExAC
gnomAD
rs1597160753
CA394580953
588 L>P No ClinGen
Ensembl
rs760308458
CA7871567
589 S>F No ClinGen
ExAC
TOPMed
gnomAD
CA7871565
rs766737348
592 E>V No ClinGen
ExAC
TOPMed
gnomAD
rs763421336
CA7871564
593 V>I No ClinGen
ExAC
gnomAD
rs1222869446
CA394580917
594 I>T No ClinGen
gnomAD
rs1283681015
CA394580920
594 I>V No ClinGen
TOPMed
gnomAD
rs1382301876
CA394580902
596 G>D No ClinGen
gnomAD
CA7871562
rs765267200
596 G>S No ClinGen
ExAC
TOPMed
gnomAD
rs1318198374
CA394580885
CA394580886
599 V>L No ClinGen
TOPMed
gnomAD
CA7871560
rs776834880
602 G>D No ClinGen
ExAC
gnomAD
CA7871559
rs769064622
603 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA7871558
rs747200497
604 R>S No ClinGen
ExAC
TOPMed
gnomAD
CA394580853
rs1205300450
605 G>R No ClinGen
TOPMed
CA7871557
rs775196337
606 Q>R No ClinGen
ExAC
gnomAD
CA7871556
rs771848877
607 G>E No ClinGen
ExAC
gnomAD
rs1435663987
CA394580835
608 T>A No ClinGen
TOPMed
rs745823164
CA7871555
608 T>I No ClinGen
ExAC
gnomAD
rs150452337
CA7871554
609 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs745357854
CA7871551
612 G>E No ClinGen
ExAC
gnomAD
TCGA novel 614 V>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA277014567
rs193292810
615 S>I No ClinGen
1000Genomes
gnomAD
rs193292810
CA394580790
615 S>T No ClinGen
1000Genomes
gnomAD
rs755805807
CA7871550
618 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1597160644
CA394580763
619 Q>R No ClinGen
Ensembl
CA394580758
rs1434163106
620 T>A No ClinGen
TOPMed
CA7871549
rs752375588
624 F>L No ClinGen
ExAC
gnomAD
CA277014543
rs79644398
624 F>S No ClinGen
Ensembl
rs1454288972
CA394580719
626 N>D No ClinGen
gnomAD
rs1383105495
CA394580706
627 L>R No ClinGen
gnomAD
CA7871548
rs766679285
628 K>Q No ClinGen
ExAC
gnomAD
rs1597151710
CA394580683
629 T>P No ClinGen
Ensembl
CA277002214
rs984781815
629 T>S No ClinGen
TOPMed
rs770923723
CA7871531
630 C>Y No ClinGen
ExAC
gnomAD
CA7871530
rs140567074
631 P>L No ClinGen
ESP
ExAC
gnomAD
CA394580669
rs1165709276
631 P>S No ClinGen
TOPMed
rs148220141
CA7871529
632 S>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA277002185
rs994169231
633 C>R No ClinGen
TOPMed
gnomAD
rs780834261
CA7871526
634 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs1047946477
CA277002169
635 I>F No ClinGen
Ensembl
rs1467317181
CA394580629
638 A>T No ClinGen
gnomAD
rs750862551
CA7871524
638 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs1361670996
CA394580623
639 P>S No ClinGen
gnomAD
rs868204077
CA277002139
641 S>F No ClinGen
Ensembl
CA277002137
rs973524248
642 E>D No ClinGen
gnomAD
CA7871520
rs370853116
644 G>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs915966240
CA277002116
645 A>D No ClinGen
gnomAD
CA7871518
rs752875724
645 A>T No ClinGen
ExAC
gnomAD
rs915966240
CA394580584
645 A>V No ClinGen
gnomAD
rs774173598
CA7871515
646 E>D No ClinGen
ExAC
gnomAD
CA7871516
rs759674069
646 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA7871513
rs200558073
647 G>E No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs770692766
CA7871514
647 G>R No ClinGen
ExAC
gnomAD
rs773096560
CA7871512
648 G>E No ClinGen
ExAC
gnomAD
rs1475481446
CA394580567
649 A>P No ClinGen
TOPMed
rs769302200
CA7871511
650 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA394580552
rs1255643254
651 Q>H No ClinGen
gnomAD
CA7871510
rs146408573
651 Q>L No ClinGen
ESP
ExAC
gnomAD
rs780559672
CA7871509
652 N>K No ClinGen
ExAC
TOPMed
gnomAD
rs143999770
CA7871508
653 G>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7871507
rs542893253
654 C>R No ClinGen
1000Genomes
ExAC
gnomAD
CA394580531
rs1245676303
655 Q>E No ClinGen
gnomAD
rs1597151596
CA394580528
655 Q>P No ClinGen
Ensembl
rs977346667
CA394580516
656 D>E No ClinGen
TOPMed
gnomAD
CA7871506
rs779440212
657 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1227383281
CA394580488
660 N>S No ClinGen
TOPMed
gnomAD
rs113187435
RCV000970887
CA7871504
661 S>G No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
TCGA novel 661 S>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA394580327
rs1597150761
665 S>F No ClinGen
Ensembl
rs76488354
CA277000749
666 G>* No ClinGen
Ensembl
rs1378313214
CA394580317
667 G>E No ClinGen
TOPMed
rs1160205554
CA394580321
667 G>R Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA7871457
rs780073586
668 P>R No ClinGen
ExAC
gnomAD
CA394580299
rs1173019018
670 P>H No ClinGen
TOPMed
rs1452957344
CA394580302
670 P>T No ClinGen
TOPMed
CA394580278
rs1386547859
673 Q>R No ClinGen
gnomAD
CA7871455
rs750592510
674 N>D No ClinGen
ExAC
TOPMed
gnomAD
rs112278827
CA7871454
674 N>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA7871451
rs763995166
675 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs763995166
CA7871452
675 G>W No ClinGen
ExAC
TOPMed
gnomAD
CA7871450
rs370068796
677 L>F No ClinGen
ESP
ExAC
gnomAD
CA394580250
rs1253174135
678 S>N No ClinGen
gnomAD
CA7871449
rs775180493
679 P>R No ClinGen
ExAC
gnomAD
TCGA novel 683 E>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs868435762
CA277000641
686 T>I No ClinGen
Ensembl
rs759286668
CA7871447
687 N>H No ClinGen
ExAC
TOPMed
gnomAD
CA394580183
rs1245864546
688 S>G No ClinGen
gnomAD
rs1400305269
CA394580169
689 Q>H No ClinGen
gnomAD
rs1321369782
CA394580155
692 L>V No ClinGen
gnomAD
rs770201418
CA7871445
694 E>G No ClinGen
ExAC
gnomAD
TCGA novel 694 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA277000620
rs866821182
697 Q>* No ClinGen
Ensembl
rs866821182
CA394580122
697 Q>E No ClinGen
Ensembl
CA277000612
rs961185232
697 Q>H No ClinGen
Ensembl
CA394580119
rs1347782959
697 Q>R No ClinGen
TOPMed
TCGA novel 698 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA394580073
rs1366944598
703 A>V No ClinGen
gnomAD
rs1262012014
CA394580072
704 G>R No ClinGen
TOPMed
CA277000575
rs1016884739
705 V>M No ClinGen
Ensembl
rs1456924971
CA394580058
706 S>I No ClinGen
gnomAD
CA394580056
rs1456924971
706 S>N No ClinGen
gnomAD
rs1005470058
CA277000569
COSM1377878
710 S>L large_intestine [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
rs1235979588
CA394580021
712 L>V No ClinGen
TOPMed
CA394580006
rs1482347441
714 P>L No ClinGen
gnomAD
rs201116391
CA7871436
715 L>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs150564905
CA7871434
716 R>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs777620315
CA7871433
716 R>S No ClinGen
ExAC
TOPMed
gnomAD
rs201439024
CA277000526
717 F>L No ClinGen
Ensembl
rs1174337540
CA394579986
718 K>E No ClinGen
TOPMed
TCGA novel 719 N>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA7871431
rs752621995
COSM1678812
721 R>Q large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs756178630
CA7871432
721 R>W No ClinGen
ExAC
gnomAD
CA7871430
rs767139105
722 E>D No ClinGen
ExAC
TOPMed
gnomAD
rs1347350747
CA394579941
724 T>M No ClinGen
gnomAD
COSM1377877
rs142301454
CA277000488
725 D>Y large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ESP
NCI-TCGA
rs1387880515
CA394579931
726 A>S No ClinGen
gnomAD
CA394579933
rs1387880515
726 A>T No ClinGen
gnomAD
CA394579910
rs1457412681
729 V>M No ClinGen
TOPMed
gnomAD
rs762632067
CA7871427
730 D>E No ClinGen
ExAC
TOPMed
gnomAD
CA7871425
rs776923222
731 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs1471789490
CA394579882
733 K>R No ClinGen
gnomAD
rs1291221245
CA394579874
734 E>G No ClinGen
TOPMed
gnomAD
CA394579870
rs1597150543
735 D>N No ClinGen
Ensembl
CA7871400
rs147236842
736 S>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA394579317
rs1393881621
738 M>I No ClinGen
TOPMed
CA7871399
rs778100108
739 K>R No ClinGen
ExAC
gnomAD
rs769730820
CA7871398
742 F>L No ClinGen
ExAC
gnomAD
CA394579265
rs1389621551
743 F>L No ClinGen
TOPMed
gnomAD
CA7871397
rs748002012
745 P>L No ClinGen
ExAC
TCGA novel 745 P>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1438401631
CA394579223
747 I>V No ClinGen
TOPMed
rs746910984
CA7871394
748 N>D No ClinGen
ExAC
TOPMed
gnomAD
rs1567425939
CA394579187
750 F>C No ClinGen
Ensembl
CA394579174
rs1229246853
751 S>N Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA276997928
COSM970633
rs1010017999
754 F>V Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
rs750100695
CA7871391
756 D>N No ClinGen
ExAC
gnomAD
rs143872089
CA7871390
757 Q>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA394579096
rs1195495074
758 E>G No ClinGen
TOPMed
CA276997926
rs200493349
759 L>V No ClinGen
Ensembl
rs1268282511
CA394579065
761 R>* No ClinGen
TOPMed
rs1482479944
CA394579062
761 R>P No ClinGen
gnomAD
rs1482479944
CA394579064
761 R>Q No ClinGen
gnomAD
rs1597148485
CA394579051
762 S>F No ClinGen
Ensembl
CA7871389
rs756874601
763 Y>C No ClinGen
ExAC
gnomAD
rs767854924
COSM340441
CA7871387
766 S>C lung [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
CA276997920
rs765982614
767 Y>C No ClinGen
gnomAD
rs774854321
CA7871385
770 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA276991682
rs751329610
771 V>I No ClinGen
Ensembl
rs760570249
CA394577993
772 I>K No ClinGen
ExAC
gnomAD
VAR_023750
CA7871359
rs2230739
772 I>M found in 37.5% of the Asian population, in 30% of the Caucasian population and in 16.3% of the African-American population; reduced adenylyl cyclase activity in response to stimulation of the beta-adregnergic receptor by Mn(2+) agonists isoproteronol and NaF; increased albuterol-stimulated adenylyl cyclase activity in the presence of corticosteroid [UniProt] No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA7871360
rs760570249
772 I>T No ClinGen
ExAC
gnomAD
CA7871361
rs768361177
772 I>V No ClinGen
ExAC
gnomAD
CA394577976
rs1438743877
774 N>K No ClinGen
TOPMed
gnomAD
rs1367661195
COSM1377875
CA394577970
775 S>F Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
rs1434109826
CA394577968
776 P>A No ClinGen
TOPMed
gnomAD
rs1386171256
CA394577964
776 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs374735605
CA7871355
777 V>M No ClinGen
ESP
ExAC
gnomAD
CA7871354
rs748969774
779 T>A No ClinGen
ExAC
gnomAD
CA394577946
rs1170328809
779 T>M No ClinGen
gnomAD
CA394577928
rs1421051771
782 S>N No ClinGen
TOPMed
CA394577916
rs1187522586
784 T>A No ClinGen
gnomAD
CA394577906
rs1435893894
785 F>S No ClinGen
TOPMed
rs1212916667
CA394577903
786 S>G No ClinGen
gnomAD
CA394577898
rs1313318580
786 S>I No ClinGen
TOPMed
gnomAD
CA394577899
rs1313318580
786 S>T No ClinGen
TOPMed
gnomAD
CA276991655
rs922260415
787 S>F No ClinGen
TOPMed
gnomAD
CA394577888
rs1567422183
788 L>F No ClinGen
Ensembl
rs759028302
CA7871350
790 D>H No ClinGen
ExAC
gnomAD
rs759028302
CA7871349
790 D>N No ClinGen
ExAC
gnomAD
rs759028302
CA394577879
790 D>Y No ClinGen
ExAC
gnomAD
rs1221654127
CA394577853
794 S>P No ClinGen
TOPMed
CA394577854
rs1221654127
794 S>T No ClinGen
TOPMed
CA394577834
rs1448423965
797 V>L No ClinGen
TOPMed
gnomAD
rs753842503
CA7871345
800 T>M No ClinGen
ExAC
TOPMed
gnomAD
rs1597143694
CA394577801
803 T>P No ClinGen
Ensembl
CA394577789
rs1167617329
805 C>R No ClinGen
gnomAD
rs1183996465
CA394577771
807 L>Q No ClinGen
gnomAD
CA276991611
rs985777337
808 K>E No ClinGen
Ensembl
rs1481740999
CA394577765
808 K>R No ClinGen
TOPMed
CA7871341
rs201102758
809 Y>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA7871339
rs186527865
810 E>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs186527865
CA394577754
810 E>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA394577747
rs1352626603
811 A>S No ClinGen
TOPMed
gnomAD
CA7871338
rs372048350
811 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1228010830
CA394577742
812 A>T No ClinGen
gnomAD
rs1306009113
CA394577737
812 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs777113575
CA7871336
813 T>A No ClinGen
ExAC
gnomAD
rs777113575
CA394577735
813 T>P No ClinGen
ExAC
gnomAD
CA7871334
rs145223924
814 V>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA7871333
rs145223924
814 V>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA276991535
rs1002199492
816 P>H No ClinGen
TOPMed
rs1002199492
CA394577719
816 P>R No ClinGen
TOPMed
rs750993435
CA7871331
816 P>S No ClinGen
ExAC
gnomAD
CA7871330
rs367822989
817 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA394577706
rs764068928
819 A>P No ClinGen
ExAC
gnomAD
rs764068928
CA7871327
819 A>T No ClinGen
ExAC
gnomAD
rs752796119
CA394577701
820 A>S No ClinGen
ExAC
TOPMed
gnomAD
rs752796119
CA7871325
820 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs767330823
CA7871324
820 A>V No ClinGen
ExAC
gnomAD
CA394577688
rs558610583
822 A>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA7871323
rs558610583
822 A>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs766342969
CA394577670
825 S>N No ClinGen
ExAC
gnomAD
rs766342969
CA7871321
825 S>T No ClinGen
ExAC
gnomAD
rs777128676
CA7871320
826 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs1046996697
CA276991484
827 A>S No ClinGen
TOPMed
rs1291186470
CA394577657
827 A>V No ClinGen
gnomAD
rs929877484
CA276991474
830 L>M No ClinGen
TOPMed
gnomAD
CA394577646
rs929877484
830 L>V No ClinGen
TOPMed
gnomAD
rs922314244
CA276991450
831 E>* No ClinGen
TOPMed
gnomAD
rs922314244
CA394577642
831 E>Q No ClinGen
TOPMed
gnomAD
rs1597143538
CA394577630
832 V>G No ClinGen
Ensembl
CA394577635
rs1293822996
832 V>M No ClinGen
gnomAD
CA276991447
rs766810277
833 L>P No ClinGen
TOPMed
gnomAD
CA394577617
rs1459120707
835 L>F No ClinGen
TOPMed
gnomAD
CA394577611
rs1181701464
836 A>P No ClinGen
TOPMed
gnomAD
CA394577612
rs1181701464
836 A>T No ClinGen
TOPMed
gnomAD
CA394577608
rs1417470406
836 A>V No ClinGen
TOPMed
gnomAD
rs776102254
CA7871316
839 I>M No ClinGen
ExAC
CA7871290
rs187903829
842 V>A No ClinGen
1000Genomes
ExAC
gnomAD
CA394576917
rs1186780237
843 F>Y No ClinGen
TOPMed
rs900818550
CA276985268
845 L>V No ClinGen
TOPMed
gnomAD
CA394576869
rs1450302468
847 D>A No ClinGen
gnomAD
rs375674603
CA7871287
848 V>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs766162854
CA7871285
850 A>P No ClinGen
ExAC
gnomAD
CA394576820
rs758085762
851 C>F No ClinGen
ExAC
TOPMed
gnomAD
CA7871284
rs758085762
851 C>Y No ClinGen
ExAC
TOPMed
gnomAD
rs750213995
CA276985220
854 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs750213995
CA7871283
854 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA7871282
rs142198070
854 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs142198070
CA7871281
854 R>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs760409676
CA7871278
858 W>C No ClinGen
ExAC
TOPMed
gnomAD
rs1267974635
CA394576754
858 W>R No ClinGen
TOPMed
gnomAD
rs545216961
CA394576727
860 A>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs545216961
CA7871277
860 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA7871275
rs763275318
861 G>S No ClinGen
ExAC
TOPMed
gnomAD
CA394576702
rs1373761894
862 W>C No ClinGen
gnomAD
CA276985163
rs1004277264
864 P>A No ClinGen
Ensembl
rs773593169
CA394576681
865 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs770270080
CA7871273
865 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs773593169
CA7871274
865 R>S No ClinGen
ExAC
TOPMed
gnomAD
rs910937151
CA276985147
866 H>L No ClinGen
TOPMed
CA7871272
rs748638309
868 I>L No ClinGen
ExAC
gnomAD
rs1473692140
CA394576643
869 G>R No ClinGen
TOPMed
gnomAD
TCGA novel 870 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs747260152
CA7871269
871 I>L No ClinGen
ExAC
TOPMed
gnomAD
CA394576602
rs149616013
873 V>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA7871268
rs149616013
873 V>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA276985099
rs755239155
874 S>L No ClinGen
TOPMed
rs1026739385
CA276985089
876 P>R No ClinGen
Ensembl
rs144986362
COSM178844
CA7871265
877 A>T Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs145252548
CA276985070
877 A>V No ClinGen
ESP
TOPMed
gnomAD
rs1290685591
CA394576540
879 A>V No ClinGen
gnomAD
CA7871261
rs377240633
880 V>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA276985012
rs959451403
882 S>Y No ClinGen
TOPMed
CA7871259
rs767115758
883 H>R No ClinGen
ExAC
TOPMed
gnomAD
CA394576477
rs1303982675
885 T>I No ClinGen
TOPMed
CA394576479
rs1567419574
885 T>S No ClinGen
Ensembl
rs770135718
CA7871256
887 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs770135718
CA394576462
887 E>Q No ClinGen
ExAC
TOPMed
gnomAD
CA394576449
rs1182795178
888 Y>H No ClinGen
gnomAD
rs372821407
CA7871255
891 N>D No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA7871254
rs777080266
892 I>T No ClinGen
ExAC
gnomAD
CA394576403
rs1202549975
892 I>V No ClinGen
TOPMed
rs768742360
CA7871253
893 H>N No ClinGen
ExAC
gnomAD
rs758044219 894 F>= Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
rs1251094400
CA394576278
894 F>I No ClinGen
TOPMed
CA7871217
rs550558850
896 V>G No ClinGen
ExAC
TOPMed
gnomAD
CA276983638
rs764388635
896 V>L No ClinGen
ExAC
gnomAD
CA7871218
rs764388635
896 V>M No ClinGen
ExAC
gnomAD
CA394576244
rs1439383555
897 F>V No ClinGen
TOPMed
rs776026141
CA7871216
898 T>A No ClinGen
ExAC
TOPMed
gnomAD
CA7871214
rs759712460
898 T>I No ClinGen
ExAC
gnomAD
CA7871215
rs759712460
898 T>R No ClinGen
ExAC
gnomAD
rs1359591767
CA394576217
899 G>D No ClinGen
gnomAD
rs771344306
COSM50420
CA7871212
900 S>L large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs1597139296
CA394576198
901 A>V No ClinGen
Ensembl
CA7871208
rs147280539
902 A>P No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA7871206
rs147280539
902 A>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA7871207
rs147280539
902 A>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs912752455
CA276983557
902 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs779529291
CA7871204
903 L>M No ClinGen
ExAC
gnomAD
rs1597139260
CA394576160
905 A>V No ClinGen
Ensembl
rs150826321
CA276983540
906 V>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7871202
rs150826321
COSM308948
906 V>I lung [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
CA7871200
rs756453051
907 V>M No ClinGen
ExAC
TOPMed
gnomAD
CA394576118
rs905073122
909 Y>F No ClinGen
TOPMed
gnomAD
rs1457319401
CA394576122
909 Y>H No ClinGen
TOPMed
CA276983522
rs905073122
909 Y>S No ClinGen
TOPMed
gnomAD
rs1045137938
CA276983518
910 C>R No ClinGen
TOPMed
gnomAD
CA394576113
rs1045137938
910 C>S No ClinGen
TOPMed
gnomAD
CA394576107
rs1252168727
910 C>Y No ClinGen
TOPMed
gnomAD
CA394576088
rs1204091731
912 F>I No ClinGen
gnomAD
CA7871199
rs752983999
915 L>F No ClinGen
ExAC
gnomAD
CA394576017
rs1310659602
918 W>R No ClinGen
gnomAD
CA7871197
rs759954267
920 R>K No ClinGen
ExAC
gnomAD
CA276983501
rs759954267
920 R>M No ClinGen
ExAC
gnomAD
rs1464029468
CA394575980
921 S>A No ClinGen
TOPMed
CA394575976
rs1329834891
921 S>F No ClinGen
TOPMed
rs751717694
CA7871196
923 L>F No ClinGen
ExAC
TOPMed
gnomAD
rs763272036
CA394575953
924 A>S No ClinGen
ExAC
gnomAD
CA7871194
rs763272036
924 A>T No ClinGen
ExAC
gnomAD
CA394575928
rs1167591871
926 V>A No ClinGen
gnomAD
CA7871190
rs776256089
926 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA394575924
rs779548082
927 V>L No ClinGen
ExAC
TOPMed
gnomAD
CA7871187
rs779548082
927 V>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs144319192
CA7871184
929 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7871182
rs753174574
930 G>A No ClinGen
ExAC
gnomAD
CA394575892
rs753174574
930 G>E No ClinGen
ExAC
gnomAD
CA394575897
rs1214446616
930 G>R No ClinGen
TOPMed
rs374631917
CA7871181
931 P>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1190816780
CA394575868
933 L>P No ClinGen
TOPMed
rs1262881841
CA394575852
935 L>F No ClinGen
TOPMed
CA7871176
rs750505834
936 Y>C No ClinGen
ExAC
TOPMed
gnomAD
rs1169192126
CA394575842
936 Y>D No ClinGen
TOPMed
CA7871174
rs374209133
937 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1347599961
CA394575816
938 S>F No ClinGen
TOPMed
CA7871172
rs768273214
939 L>P No ClinGen
ExAC
gnomAD
rs1176556124
CA394575791
941 P>A No ClinGen
TOPMed
gnomAD
rs1039087539
CA276983385
941 P>L No ClinGen
TOPMed
rs200807161
CA7871143
945 V>L No ClinGen
1000Genomes
ExAC
gnomAD
rs780559235
CA7871141
947 T>A No ClinGen
ExAC
gnomAD
CA394574799
rs758989525
947 T>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA7871140
rs758989525
947 T>S No ClinGen
ExAC
gnomAD
COSM970628
CA7871138
rs779084996
948 S>L Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1044390225
CA276981212
949 P>A No ClinGen
gnomAD
TCGA novel 950 L>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs756325728
CA7871134
952 A>T No ClinGen
ExAC
gnomAD
CA394574768
rs950171987
953 V>I No ClinGen
TOPMed
gnomAD
rs950171987
CA276981192
953 V>L No ClinGen
TOPMed
gnomAD
rs1434141802
CA394574761
954 Q>K No ClinGen
TOPMed
gnomAD
TCGA novel 956 F>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA7871108
rs764775577
959 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs974015341
CA276975995
961 N>D No ClinGen
TOPMed
CA7871106
rs768405098
962 P>L Variant assessed as Somatic; 4.646e-05 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA7871105
rs768405098
962 P>Q No ClinGen
ExAC
TOPMed
gnomAD
CA7871103
rs774774591
963 C>Y No ClinGen
ExAC
TOPMed
gnomAD
CA394574675
rs1258513412
964 N>D No ClinGen
Ensembl
rs771400616
CA7871102
964 N>S No ClinGen
ExAC
gnomAD
CA394574668
rs1335425544
965 S>G No ClinGen
gnomAD
rs1042273291
CA276975981
965 S>I No ClinGen
TOPMed
gnomAD
CA7871100
COSM970627
rs777717895
966 S>L Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA7871098
rs748391119
967 V>M No ClinGen
ExAC
TOPMed
gnomAD
CA7871096
rs184286992
968 P>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs368342558
CA7871097
968 P>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs545959256
CA7871094
969 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA7871092
rs141519764
969 R>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs141519764
CA7871093
969 R>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1027823367
CA276975936
970 D>A No ClinGen
Ensembl
rs893651633
CA276975933
971 L>F No ClinGen
TOPMed
rs1470161574
CA394574635
971 L>P No ClinGen
gnomAD
rs200143861
CA394574633
972 R>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs374135203
CA276975916
972 R>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs374135203
COSM178841
CA7871090
972 R>Q large_intestine [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
rs200143861
CA7871091
972 R>W No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs763906715
CA7871088
973 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA7871089
rs200825289
973 R>W No ClinGen
1000Genomes
ExAC
gnomAD
rs774593490
CA7871086
975 A>P No ClinGen
ExAC
gnomAD
rs774593490
CA276975872
975 A>T No ClinGen
ExAC
gnomAD
rs1401024401
CA394574617
976 S>G No ClinGen
TOPMed
gnomAD
rs1236756658
CA394574613
976 S>I No ClinGen
gnomAD
CA394574609
rs1371929686
977 L>V No ClinGen
TOPMed
gnomAD
rs763398960
CA7871085
978 I>M No ClinGen
ExAC
TOPMed
gnomAD
rs770263456
CA7871082
979 G>R No ClinGen
ExAC
TOPMed
gnomAD
CA7871083
rs770263456
979 G>S No ClinGen
ExAC
TOPMed
gnomAD
CA7871080
rs776685050
980 Q>E No ClinGen
ExAC
gnomAD
rs768815007
CA394574591
980 Q>P No ClinGen
ExAC
TOPMed
gnomAD
rs768815007
CA7871079
980 Q>R No ClinGen
ExAC
TOPMed
gnomAD
CA394574575
rs1175185834
982 V>G No ClinGen
gnomAD
CA394574561
rs745631015
985 V>F No ClinGen
ExAC
TOPMed
gnomAD
CA7871075
rs745631015
985 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs745631015
CA394574562
COSM1629894
985 V>L liver [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs779038291
CA7871072
988 L>I No ClinGen
ExAC
TOPMed
gnomAD
rs779038291
CA394574541
988 L>V No ClinGen
ExAC
TOPMed
gnomAD
rs755728965
CA7871068
992 L>F No ClinGen
ExAC
gnomAD
CA394574517
rs763640707
992 L>V No ClinGen
ExAC
TOPMed
gnomAD
CA394574507
rs1246814546
993 V>G No ClinGen
TOPMed
rs1348910075
CA394574497
995 F>I No ClinGen
gnomAD
rs752352941
CA7871066
995 F>L No ClinGen
ExAC
gnomAD
rs1467181138
CA394574475
998 R>C No ClinGen
TOPMed
rs372256275
CA7871065
998 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs773530497
CA7871063
999 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA7871062
rs765800358
1004 Y>C No ClinGen
ExAC
TOPMed
gnomAD
CA394574432
rs765800358
1004 Y>S No ClinGen
ExAC
TOPMed
gnomAD
rs762293576
CA7871061
1005 R>C No ClinGen
ExAC
gnomAD
CA7871060
rs776703788
1005 R>H No ClinGen
ExAC
gnomAD
rs1374494955
CA394574421
1006 L>H No ClinGen
gnomAD
rs1171333142
CA394574416
1007 H>Y No ClinGen
gnomAD
rs768712325
CA7871059
1009 H>D No ClinGen
ExAC
TOPMed
gnomAD
rs1422083472
CA394574399
1009 H>R No ClinGen
gnomAD
CA276975794
rs369874673
1011 D>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA394574381
rs1415087301
1012 V>M Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs1257126554
CA394574357
1015 D>E No ClinGen
gnomAD
rs961414699
CA276975770
1015 D>G No ClinGen
gnomAD
rs1208276083
CA394574350
1016 L>R No ClinGen
gnomAD
rs72556389
CA276975760
1017 H>L No ClinGen
Ensembl
rs954982548
CA276975766
1017 H>Y No ClinGen
TOPMed
gnomAD
rs772154703
CA7871056
1018 R>H No ClinGen
ExAC
gnomAD
CA7871055
rs745725605
1019 T>A No ClinGen
ExAC
gnomAD
CA7871054
rs778842205
1020 K>N No ClinGen
ExAC
gnomAD
CA394574330
rs1316019716
1020 K>T No ClinGen
gnomAD
rs757277884
CA7871053
1022 Q>E No ClinGen
ExAC
gnomAD
rs749173620
CA7871052
1024 M>I No ClinGen
ExAC
gnomAD
rs777459326
CA394574296
1025 R>G No ClinGen
ExAC
gnomAD
CA7871050
rs537762832
1025 R>Q No ClinGen
1000Genomes
ExAC
gnomAD
TCGA novel 1025 R>W Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1428143466
CA394574269
1029 D>H No ClinGen
TOPMed
rs767235806
CA7871048
1030 W>R No ClinGen
ExAC
gnomAD
CA394574195
CA394574194
rs375586019
1039 H>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 1040 V>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1422168562
CA394574182
1041 A>V No ClinGen
gnomAD
CA394574133
rs1167697653
1048 Q>H No ClinGen
gnomAD
rs750845309
CA7871046
1049 T>I No ClinGen
ExAC
gnomAD
rs762310025
CA7871044
1051 S>P No ClinGen
ExAC
CA394574110
rs1180128663
1052 K>R No ClinGen
gnomAD
rs2230742
CA7871043
CA394574092
1054 H>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA394574088
rs1234569494
1055 D>G No ClinGen
TOPMed
gnomAD
CA276975732
rs964742894
1055 D>H No ClinGen
TOPMed
gnomAD
CA394574090
rs964742894
1055 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA394574087
rs1234569494
1055 D>V No ClinGen
TOPMed
gnomAD
CA394574091
rs964742894
1055 D>Y No ClinGen
TOPMed
gnomAD
COSM1678811
rs760849601
CA7871041
1057 G>R large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
CA394574060
rs1597132015
1059 V>G No ClinGen
Ensembl
CA7871040
rs775427887
1060 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs1315704361
CA394574052
1061 F>L No ClinGen
gnomAD
rs72556390
CA394574044
1062 A>S No ClinGen
TOPMed
gnomAD
rs72556390
CA276975722
1062 A>T Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA7871038
rs759778264
1063 S>N No ClinGen
ExAC
gnomAD
rs566557148
CA394574033
1064 I>L No ClinGen
1000Genomes
ExAC
gnomAD
rs566557148
CA7871037
1064 I>V No ClinGen
1000Genomes
ExAC
gnomAD
CA7871034
rs777812556
1065 V>A No ClinGen
ExAC
gnomAD
rs1297229961
CA394574027
1065 V>I No ClinGen
TOPMed
gnomAD
rs1297229961
CA394574026
1065 V>L No ClinGen
TOPMed
gnomAD
CA394574018
rs1359571796
1066 N>S No ClinGen
TOPMed
rs146567172
CA7871033
1068 S>G No ClinGen
1000Genomes
ExAC
gnomAD
CA7871032
rs151019592
1068 S>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs959631555
CA276975671
1069 E>A No ClinGen
Ensembl
rs552555768
CA276975674
1069 E>K No ClinGen
Ensembl
rs1162803356
CA394573978
1072 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA394573977
rs1162803356
1072 E>Q No ClinGen
TOPMed
gnomAD
rs779278647
CA7871028
1076 E>K No ClinGen
ExAC
gnomAD
rs757669826
CA7871027
1077 G>V No ClinGen
ExAC
gnomAD
CA7871025
rs371807206
1078 G>S No ClinGen
ESP
ExAC
gnomAD
rs1222332240
CA394573925
1079 K>R No ClinGen
TOPMed
rs759871885
CA394573896
1083 R>P No ClinGen
ExAC
TOPMed
CA7871021
rs759871885
1083 R>Q No ClinGen
ExAC
TOPMed
rs767432735
CA7871022
1083 R>W No ClinGen
ExAC
gnomAD
rs1237487191
CA394573887
1085 L>F No ClinGen
gnomAD
rs762878876
CA7871018
1089 I>V No ClinGen
ExAC
gnomAD
rs1395101421
CA394573831
1093 D>H No ClinGen
TOPMed
gnomAD
TCGA novel 1093 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs780756690
CA7871014
1096 L>V No ClinGen
ExAC
gnomAD
rs768112417
CA7871013
1097 S>N No ClinGen
ExAC
gnomAD
rs1397079174
CA394573787
1099 P>L No ClinGen
gnomAD
CA7871012
rs531124205
1099 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
rs754286793
CA7871009
1100 D>A No ClinGen
ExAC
rs758042130
CA7871010
1100 D>Y No ClinGen
ExAC
gnomAD
CA394573779
rs1265231936
1101 Y>H No ClinGen
gnomAD
CA394573772
rs1434488549
1102 S>G No ClinGen
TOPMed
CA7871007
rs756652210
1102 S>R No ClinGen
ExAC
TOPMed
gnomAD
CA7871006
rs548468725
1103 S>N No ClinGen
1000Genomes
ExAC
gnomAD
CA7871004
rs759735634
1104 I>M No ClinGen
ExAC
TOPMed
gnomAD
CA394573754
rs1213738293
1104 I>T No ClinGen
gnomAD
TCGA novel 1109 T>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1445327990
CA394573708
COSM1742714
1111 G>R biliary_tract [Cosmic] No ClinGen
cosmic curated
Ensembl
CA394573691
rs1299897624
1113 T>M No ClinGen
TOPMed
gnomAD
CA7871000
rs773073326
1116 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA394573663
rs1417890063
1117 A>V No ClinGen
gnomAD
CA7870996
rs576787672
1121 N>S No ClinGen
1000Genomes
ExAC
gnomAD
CA394573638
rs1597131810
1122 T>P No ClinGen
Ensembl
CA7870993
COSM3402320
rs771725261
1123 A>T central_nervous_system [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA7870992
rs745449501
COSM3794847
1123 A>V urinary_tract [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA7870990
rs756388353
1124 Q>E No ClinGen
ExAC
gnomAD
CA276975481
rs940194040
1124 Q>R No ClinGen
Ensembl
CA7870989
rs544468394
1125 A>P No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA7870988
rs374305565
1125 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs751743531
CA7870986
1126 Q>R No ClinGen
ExAC
TOPMed
gnomAD
CA276975475
rs776446870
1127 D>G No ClinGen
Ensembl
CA394573611
rs1230026025
1127 D>N No ClinGen
gnomAD
rs750569843
CA7870983
1128 G>D No ClinGen
ExAC
CA394573604
rs1278100124
1128 G>S No ClinGen
TOPMed
gnomAD
rs1357446146
CA394573582
1131 P>A No ClinGen
gnomAD
rs201367484
CA7870982
1131 P>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs776481614
CA7870980
1132 Q>R No ClinGen
ExAC
TOPMed
gnomAD
CA276975444
rs551293106
1135 L>V No ClinGen
Ensembl
CA394573550
rs1422886469
1136 Q>* No ClinGen
gnomAD
rs1168406570
CA394573545
1136 Q>H No ClinGen
gnomAD
rs1417323161
CA394573547
1136 Q>R No ClinGen
TOPMed
rs1475939275
CA394573537
1137 I>M No ClinGen
gnomAD
rs774989006
CA7870977
1138 L>V No ClinGen
ExAC
gnomAD
COSM231718
rs745559844
CA7870975
1140 E>K Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA394573508
rs770583603
1142 A>S No ClinGen
ExAC
TOPMed
gnomAD
CA7870973
rs770583603
1142 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA7870972
rs748524658
1145 M>V No ClinGen
ExAC
TOPMed
gnomAD
CA7870971
rs781677508
1146 M>T No ClinGen
ExAC
TOPMed
gnomAD
rs755552694
CA7870970
1147 R>C No ClinGen
ExAC
gnomAD
rs755552694
CA394573471
1147 R>G No ClinGen
ExAC
gnomAD
rs145693515
CA7870969
1147 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs145693515
CA394573470
1147 R>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1338947684
CA394573468
1148 V>M No ClinGen
TOPMed
gnomAD
CA7870968
rs780311928
1150 D>N No ClinGen
ExAC
gnomAD
CA7870966
rs750492924
1151 D>N No ClinGen
ExAC
gnomAD
CA276975363
rs61731445
1154 N>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs61731445
CA7870965
VAR_070887
1154 N>S No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs757489326
CA7870964
1155 N>D No ClinGen
ExAC
gnomAD
CA394573403
rs1365225812
1157 L>Q No ClinGen
gnomAD
CA7870962
rs763810376
1158 W>S No ClinGen
ExAC
gnomAD
rs752586436
CA7870961
1160 N>K No ClinGen
ExAC
gnomAD
rs1197068652
CA394573364
1162 K>R No ClinGen
gnomAD
rs1195076485
CA394573353
1164 R>C No ClinGen
TOPMed
CA394573351
COSM3817969
rs1421885899
1164 R>H Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
rs144864117
CA7870957
1165 V>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA394573349
rs144864117
1165 V>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA7870954
rs777136439
1168 N>S No ClinGen
ExAC
gnomAD
rs940309439
CA276975279
1169 H>R No ClinGen
Ensembl
CA7870951
rs780753391
1171 P>A No ClinGen
ExAC
TOPMed
gnomAD
rs780753391
CA394573310
1171 P>S No ClinGen
ExAC
TOPMed
gnomAD
COSM1377869
rs1371707087
CA394573294
1173 T>M Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
rs1403167221
CA394573288
1174 A>V No ClinGen
gnomAD
rs1158584676
CA394573287
1175 G>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA394573277
rs1597131570
1176 V>G No ClinGen
Ensembl
rs757425450
CA7870947
1176 V>I No ClinGen
ExAC
gnomAD
CA394573275
rs1567412866
1177 I>V No ClinGen
Ensembl
CA7870945
rs777570578
1178 G>S No ClinGen
ExAC
TOPMed
gnomAD
rs775005712
CA276975237
1181 K>E No ClinGen
Ensembl
rs1206521304
CA394573227
1185 D>N No ClinGen
TOPMed
CA7870940
rs751041166
1189 D>H No ClinGen
ExAC
gnomAD
rs1368036635
CA394573185
1190 T>I No ClinGen
gnomAD
rs772950125
CA7870937
1193 I>T No ClinGen
ExAC
gnomAD
CA7870936
rs769546776
1194 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
TCGA novel 1198 D>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA276975178
rs267604541
1201 G>D No ClinGen
gnomAD
COSM435241
rs149465612
CA7870933
1201 G>S Variant assessed as Somatic; 0.0001386 impact. breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs778892072
CA7870931
1202 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs770998158
CA7870930
1204 C>Y No ClinGen
ExAC
gnomAD
CA7870929
rs749352306
COSM1128959
1205 R>C prostate [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
CA7870928
rs778012664
1205 R>H No ClinGen
ExAC
gnomAD
CA394573078
rs1160493612
1206 I>M No ClinGen
TOPMed
TCGA novel 1206 I>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs747992457
CA7870926
1207 Q>* No ClinGen
ExAC
gnomAD
rs1567412764
CA394573074
1207 Q>R No ClinGen
Ensembl
CA394573057
rs754871847
1209 S>R No ClinGen
ExAC
TOPMed
gnomAD
CA276975155
rs770070508
1210 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs1341412380
CA394573042
1211 E>D No ClinGen
gnomAD
rs914794233
CA276975154
1213 Y>C Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs914794233
CA394573029
1213 Y>F No ClinGen
TOPMed
rs1278739094
CA394573024
1214 R>C No ClinGen
TOPMed
gnomAD
CA7870923
rs200863972
1214 R>H No ClinGen
1000Genomes
ExAC
gnomAD
CA7870919
rs765047478
1215 V>A No ClinGen
ExAC
gnomAD
rs369920383
CA7870921
COSM1182055
1215 V>I large_intestine [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs369920383
CA7870920
1215 V>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA394573000
rs1282118320
1218 K>T No ClinGen
TOPMed
rs981533550
CA276975122
1219 M>I No ClinGen
TOPMed
gnomAD
rs761501337
CA394572992
1219 M>K No ClinGen
ExAC
TOPMed
gnomAD
CA7870918
rs761501337
1219 M>T No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 1219 M>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs201893525
CA7870917
1220 G>D Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA276975117
rs971860689
1221 Y>C No ClinGen
TOPMed
CA7870916
rs767884304
1224 D>A No ClinGen
ExAC
gnomAD
CA394572960
rs1477572085
1224 D>N No ClinGen
gnomAD
TCGA novel 1227 G>W Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA7870914
rs141452008
1229 V>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs559533290
CA7870913
1230 N>H No ClinGen
1000Genomes
ExAC
gnomAD
TCGA novel 1230 N>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1362306134
CA394572876
1236 Q>P No ClinGen
TOPMed
TCGA novel 1236 Q>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs773264079
CA7870911
1237 M>V No ClinGen
ExAC
gnomAD
CA394572853
rs1315921662
1239 T>N No ClinGen
gnomAD
rs1294598242
CA394572850
1240 Y>N No ClinGen
gnomAD
rs748299013
CA7870909
1244 K>Q No ClinGen
ExAC
TOPMed
gnomAD
CA7870908
rs147811130
1246 T>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA394572792
rs1465567691
1248 H>P No ClinGen
gnomAD
rs746758399
CA7870906
1249 R>T No ClinGen
ExAC
gnomAD
CA276975095
rs1007408384
1250 V>F No ClinGen
TOPMed
gnomAD
CA394572765
rs780077845
1252 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA7870905
rs780077845
1252 P>Q No ClinGen
ExAC
TOPMed
gnomAD
rs202245497
CA276975092
CA394572758
1253 Q>H No ClinGen
1000Genomes
TOPMed
rs1597131338
CA394572759
1253 Q>L No ClinGen
Ensembl
rs1413392573
CA394572753
1254 H>R No ClinGen
gnomAD
rs758404652
CA7870904
1255 Q>R No ClinGen
ExAC
rs764775400
CA7870902
1256 L>P No ClinGen
ExAC
gnomAD
rs753481552
CA394572729
1258 I>N No ClinGen
ExAC
gnomAD
rs753481552
CA7870900
1258 I>S No ClinGen
ExAC
gnomAD
CA394572731
rs1334815418
1258 I>V No ClinGen
TOPMed
CA7870899
rs376614156
1259 S>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7870897
rs774577020
1261 D>H No ClinGen
ExAC
gnomAD
rs766932381
CA7870896
1261 D>V No ClinGen
ExAC
gnomAD
CA7870895
rs763389710
1263 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs773282474
CA7870894
1263 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA7870892
rs151282873
1264 V>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA7870891
rs367911334
1265 Q>H No ClinGen
1000Genomes
ESP
ExAC
gnomAD
CA7870890
rs768729134
1267 D>G No ClinGen
ExAC
gnomAD
CA394572673
rs1162694496
1268 G>S No ClinGen
TOPMed
gnomAD
rs1421753893
CA394572664
1269 S>N No ClinGen
gnomAD
CA394572654
rs1177794562
1270 I>M No ClinGen
gnomAD
rs538118003
CA276975021
1270 I>T No ClinGen
TOPMed
rs746886527
CA7870889
1271 G>R No ClinGen
ExAC
gnomAD
rs997238587
CA276975011
1272 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs371680928
CA7870888
1272 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA276974998
rs897486098
1274 P>A No ClinGen
Ensembl
rs778588883
CA7870886
1277 E>D No ClinGen
ExAC
gnomAD
rs1374162032
CA394572566
1278 I>M No ClinGen
TOPMed
CA394572579
rs1567412547
1278 I>T No ClinGen
Ensembl
rs142260607
CA276974963
1278 I>V No ClinGen
ESP
CA394572552
rs1463925971
1279 A>D No ClinGen
TOPMed
CA7870882
rs375515956
1282 V>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 1285 V>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs370863551
CA276974947
1286 Q>H Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs943523654
CA276974946
1287 Y>C No ClinGen
TOPMed
rs763480855
CA7870877
1287 Y>H No ClinGen
ExAC
gnomAD
CA7870876
rs750878205
1289 D>G No ClinGen
ExAC
TOPMed
gnomAD
rs1439924451
CA394572387
1289 D>N No ClinGen
TOPMed
CA7870875
rs530150534
1293 L>V No ClinGen
1000Genomes
ExAC
gnomAD
CA394572309
rs776569230
1294 G>C No ClinGen
ExAC
TOPMed
gnomAD
rs776569230
CA7870873
1294 G>S No ClinGen
ExAC
TOPMed
gnomAD
CA394572290
rs768979927
1295 S>C No ClinGen
ExAC
gnomAD
rs768979927
CA7870872
1295 S>F Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA394572263
rs1417697017
1296 D>E No ClinGen
TOPMed
gnomAD
CA276974909
rs888717225
1297 S>G No ClinGen
TOPMed
rs148729420
CA7870871
1297 S>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs192788160
CA7870870
1299 T>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs192788160
CA394572209
1299 T>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs368305972
CA7870867
1300 Q>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs770771235
CA7870866
1301 A>S No ClinGen
ExAC
gnomAD
CA7870865
rs748891359
1302 K>M No ClinGen
ExAC
gnomAD
TCGA novel 1302 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA7870863
rs777093117
1303 D>E No ClinGen
ExAC
gnomAD
rs1486414978
CA394572125
1304 A>G No ClinGen
TOPMed
gnomAD
rs755792053
CA394572117
CA7870862
1305 H>Q No ClinGen
ExAC
TOPMed
rs1258134193
CA394572119
1305 H>R No ClinGen
gnomAD
CA7870860
rs752248079
1307 S>F No ClinGen
ExAC
TOPMed
gnomAD
rs1461540677
CA394572102
1308 P>R No ClinGen
TOPMed
rs1299789359
CA394572088
1310 R>I No ClinGen
gnomAD
rs144464713
CA7870857
1311 P>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs144464713
CA394572083
1311 P>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs201541852
CA7870858
1311 P>T No ClinGen
ExAC
TOPMed
gnomAD
rs913886418
CA276974828
1313 K>Q No ClinGen
Ensembl
rs545884748
CA7870854
1314 E>D No ClinGen
1000Genomes
ExAC
gnomAD
CA394572058
rs915968908
1315 P>A No ClinGen
TOPMed
gnomAD
TCGA novel 1315 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs915968908
CA276974805
1315 P>T No ClinGen
TOPMed
gnomAD
rs1597131046
CA394572051
1316 V>A No ClinGen
Ensembl
TCGA novel 1316 V>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs764041960
CA7870852
1316 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA7870851
rs760974192
1318 A>T No ClinGen
ExAC
CA7870849
rs146352467
1319 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1422302651
CA394572020
1321 R>G No ClinGen
gnomAD
CA7870848
rs759474569
1321 R>K No ClinGen
ExAC
TOPMed
CA7870847
rs774279006
1322 G>D No ClinGen
ExAC
gnomAD
CA394572010
rs774279006
1322 G>V No ClinGen
ExAC
gnomAD
TCGA novel 1322 G>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1256363458
CA394572008
COSM970620
1323 R>* Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
CA394572007
rs149834476
1323 R>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7870846
rs149834476
1323 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA394571986
rs1261735077
1326 K>I No ClinGen
TOPMed
CA7870845
rs749110041
1327 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs557051514
CA7870843
1329 E>D No ClinGen
1000Genomes
ExAC
gnomAD
rs772806621
CA7870844
1329 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA276974758
rs997578740
1330 K>Q No ClinGen
TOPMed
rs780861346
CA394571952
1331 D>E No ClinGen
ExAC
gnomAD
rs754619679
CA7870839
1332 D>N No ClinGen
ExAC
TOPMed
gnomAD
rs754619679
CA394571949
1332 D>Y No ClinGen
ExAC
TOPMed
gnomAD
CA394571931
rs1415016352
1334 D>G No ClinGen
TOPMed
CA7870837
rs199644950
1335 E>G No ClinGen
ExAC
TOPMed
gnomAD
CA276974751
COSM3420986
rs374081146
1335 E>K Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
NCI-TCGA
TOPMed
gnomAD
CA394571927
rs374081146
1335 E>Q No ClinGen
ESP
TOPMed
gnomAD
CA276974739
rs371323934
1338 I>T No ClinGen
Ensembl
CA7870836
rs757814677
1340 E>A No ClinGen
ExAC
gnomAD
CA394571894
rs1402943117
1340 E>K No ClinGen
gnomAD
rs1451398810
CA394571883
1341 A>V No ClinGen
TOPMed
CA394571881
rs1411075318
1342 N>H No ClinGen
gnomAD
rs139504822
CA7870833
CA394571876
1342 N>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1167942428
CA394571878
1342 N>S No ClinGen
gnomAD
CA394571873
COSM1478870
rs1368722853
1343 E>K Variant assessed as Somatic; 0.0 impact. large_intestine breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
CA7870832
rs752822315
1345 T>I No ClinGen
ExAC
TOPMed
gnomAD
CA394571857
rs752822315
1345 T>S No ClinGen
ExAC
TOPMed
gnomAD
CA7870831
rs767912207
1346 K>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1214106113
CA394571847
1347 L>F No ClinGen
TOPMed
rs200722281
CA7870829
1348 N>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs200722281
CA394571840
1348 N>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1458627244
CA394571834
1349 V>A No ClinGen
gnomAD
rs141625716
CA7870826
1349 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7870827
rs141625716
1349 V>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA394571810
rs1194194706
1351 K>T No ClinGen
gnomAD
CA276974664
rs1030612865
1352 S>G No ClinGen
Ensembl
rs747722293
CA7870824
1352 S>N No ClinGen
ExAC
TOPMed
gnomAD

No associated diseases with O60503

2 regional properties for O60503

Type Name Position InterPro Accession
domain Histone deacetylase complex subunit SAP30 zinc-finger 18 - 88 IPR025717
domain Histone deacetylase complex subunit SAP30, Sin3 binding domain 105 - 157 IPR025718

Functions

Description
EC Number 4.6.1.1 Phosphorus-oxygen lyases
Subcellular Localization
  • Cell membrane ; Multi-pass membrane protein
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

5 GO annotations of cellular component

Name Definition
axon The long process of a neuron that conducts nerve impulses, usually away from the cell body to the terminals and varicosities, which are sites of storage and release of neurotransmitter.
dendrite A neuron projection that has a short, tapering, morphology. Dendrites receive and integrate signals from other neurons or from sensory stimuli, and conduct nerve impulses towards the axon or the cell body. In most neurons, the impulse is conveyed from dendrites to axon via the cell body, but in some types of unipolar neuron, the impulse does not travel via the cell body.
integral component of membrane The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.
integral component of plasma membrane The component of the plasma membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.
plasma membrane The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

3 GO annotations of molecular function

Name Definition
adenylate cyclase activity Catalysis of the reaction: ATP = 3',5'-cyclic AMP + diphosphate.
ATP binding Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
metal ion binding Binding to a metal ion.

6 GO annotations of biological process

Name Definition
adenylate cyclase-activating adrenergic receptor signaling pathway An adenylate cyclase-activating G protein-coupled receptor signaling pathway initiated by a ligand binding to an adrenergic receptor on the surface of the target cell, and ending with the regulation of a downstream cellular process.
adenylate cyclase-activating G protein-coupled receptor signaling pathway A G protein-coupled receptor signaling pathway in which the signal is transmitted via the activation of adenylyl cyclase activity and a subsequent increase in the intracellular concentration of cyclic AMP (cAMP).
cAMP biosynthetic process The chemical reactions and pathways resulting in the formation of the nucleotide cAMP (cyclic AMP, adenosine 3',5'-cyclophosphate).
in utero embryonic development The process whose specific outcome is the progression of the embryo in the uterus over time, from formation of the zygote in the oviduct, to birth. An example of this process is found in Mus musculus.
intracellular signal transduction The process in which a signal is passed on to downstream components within the cell, which become activated themselves to further propagate the signal and finally trigger a change in the function or state of the cell.
signal transduction The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell.

2 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
P40145 ADCY8 Adenylate cyclase type 8 Homo sapiens (Human) PR
P51830 Adcy9 Adenylate cyclase type 9 Mus musculus (Mouse) PR
10 20 30 40 50 60
MASPPHQQLL HHHSTEVSCD SSGDSNSVRV KINPKQLSSN SHPKHCKYSI SSSCSSSGDS
70 80 90 100 110 120
GGVPRRVGGG GRLRRQKKLP QLFERASSRW WDPKFDSVNL EEACLERCFP QTQRRFRYAL
130 140 150 160 170 180
FYIGFACLLW SIYFAVHMRS RLIVMVAPAL CFLLVCVGFF LFTFTKLYAR HYAWTSLALT
190 200 210 220 230 240
LLVFALTLAA QFQVLTPVSG RGDSSNLTAT ARPTDTCLSQ VGSFSMCIEV LFLLYTVMHL
250 260 270 280 290 300
PLYLSLCLGV AYSVLFETFG YHFRDEACFP SPGAGALHWE LLSRGLLHGC IHAIGVHLFV
310 320 330 340 350 360
MSQVRSRSTF LKVGQSIMHG KDLEVEKALK ERMIHSVMPR IIADDLMKQG DEESENSVKR
370 380 390 400 410 420
HATSSPKNRK KKSSIQKAPI AFRPFKMQQI EEVSILFADI VGFTKMSANK SAHALVGLLN
430 440 450 460 470 480
DLFGRFDRLC EETKCEKIST LGDCYYCVAG CPEPRADHAY CCIEMGLGMI KAIEQFCQEK
490 500 510 520 530 540
KEMVNMRVGV HTGTVLCGIL GMRRFKFDVW SNDVNLANLM EQLGVAGKVH ISEATAKYLD
550 560 570 580 590 600
DRYEMEDGKV IERLGQSVVA DQLKGLKTYL ISGQRAKESR CSCAEALLSG FEVIDGSQVS
610 620 630 640 650 660
SGPRGQGTAS SGNVSDLAQT VKTFDNLKTC PSCGITFAPK SEAGAEGGAP QNGCQDEHKN
670 680 690 700 710 720
STKASGGPNP KTQNGLLSPP QEEKLTNSQT SLCEILQEKG RWAGVSLDQS ALLPLRFKNI
730 740 750 760 770 780
REKTDAHFVD VIKEDSLMKD YFFKPPINQF SLNFLDQELE RSYRTSYQEE VIKNSPVKTF
790 800 810 820 830 840
ASPTFSSLLD VFLSTTVFLT LSTTCFLKYE AATVPPPPAA LAVFSAALLL EVLSLAVSIR
850 860 870 880 890 900
MVFFLEDVMA CTKRLLEWIA GWLPRHCIGA ILVSLPALAV YSHVTSEYET NIHFPVFTGS
910 920 930 940 950 960
AALIAVVHYC NFCQLSSWMR SSLATVVGAG PLLLLYVSLC PDSSVLTSPL DAVQNFSSER
970 980 990 1000 1010 1020
NPCNSSVPRD LRRPASLIGQ EVVLVFFLLL LLVWFLNREF EVSYRLHYHG DVEADLHRTK
1030 1040 1050 1060 1070 1080
IQSMRDQADW LLRNIIPYHV AEQLKVSQTY SKNHDSGGVI FASIVNFSEF YEENYEGGKE
1090 1100 1110 1120 1130 1140
CYRVLNELIG DFDELLSKPD YSSIEKIKTI GATYMAASGL NTAQAQDGSH PQEHLQILFE
1150 1160 1170 1180 1190 1200
FAKEMMRVVD DFNNNMLWFN FKLRVGFNHG PLTAGVIGTT KLLYDIWGDT VNIASRMDTT
1210 1220 1230 1240 1250 1260
GVECRIQVSE ESYRVLSKMG YDFDYRGTVN VKGKGQMKTY LYPKCTDHRV IPQHQLSISP
1270 1280 1290 1300 1310 1320
DIRVQVDGSI GRSPTDEIAN LVPSVQYVDK TSLGSDSSTQ AKDAHLSPKR PWKEPVKAEE
1330 1340 1350
RGRFGKAIEK DDCDETGIEE ANELTKLNVS KSV