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 Q6YHU6

Entry ID Method Resolution Chain Position Source
5T6Y X-ray 176 A C 796-807 PDB
AF-Q6YHU6-F1 Predicted AlphaFoldDB

2021 variants for Q6YHU6

Variant ID(s) Position Change Description Diseaes Association Provenance
rs1482073094
CA346639017
2 G>D No ClinGen
TOPMed
gnomAD
CA1633783
rs762085952
3 V>A No ClinGen
ExAC
gnomAD
CA346638995
rs1204944026
4 K>R No ClinGen
TOPMed
rs1343630079
CA346638986
5 K>E No ClinGen
gnomAD
rs1227549670
CA346638944
8 E>Q No ClinGen
gnomAD
rs759927171
CA46398879
9 M>I No ClinGen
Ensembl
CA346638929
rs1359966318
9 M>V No ClinGen
TOPMed
gnomAD
CA1633779
rs768716443
10 Q>E No ClinGen
ExAC
TOPMed
gnomAD
rs1468373498
CA346638890
12 A>G No ClinGen
TOPMed
rs774830793
CA46398864
12 A>S No ClinGen
Ensembl
CA346638887
rs1468373498
12 A>V No ClinGen
TOPMed
rs771603812
CA1633778
COSM1021017
13 A>V Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA1633777
rs370411818
15 T>S No ClinGen
ESP
ExAC
gnomAD
rs1168574412
CA346638842
16 I>T No ClinGen
gnomAD
rs780928464
CA1633774
16 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs1403967737
CA346638830
17 C>F No ClinGen
TOPMed
CA46398846
rs1044274044
18 H>R No ClinGen
gnomAD
CA1633773
rs770596548
19 Q>* No ClinGen
ExAC
gnomAD
rs777150338
CA1633771
20 D>E No ClinGen
ExAC
gnomAD
rs1180750653
CA346638791
20 D>G No ClinGen
gnomAD
CA1633772
rs746612310
20 D>N No ClinGen
ExAC
TOPMed
gnomAD
CA346638774
rs1356512522
21 L>P No ClinGen
TOPMed
CA1633769
rs200695759
22 E>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 22 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1633770
rs757916965
22 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA346638756
rs1483779663
23 T>A No ClinGen
gnomAD
rs780683695
CA1633768
25 K>R No ClinGen
ExAC
gnomAD
rs780683695
CA346638730
25 K>T No ClinGen
ExAC
gnomAD
CA346638657
rs1456191401
26 S>F No ClinGen
TOPMed
CA1633752
rs771529524
29 D>G No ClinGen
ExAC
TOPMed
gnomAD
rs1336820498
CA346638629
COSM3839560
29 D>N Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
rs747661099
CA1633751
30 V>G No ClinGen
ExAC
TOPMed
gnomAD
CA346638574
rs1268521066
33 K>E No ClinGen
TOPMed
gnomAD
TCGA novel 33 K>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1329769752
CA346638555
34 N>H No ClinGen
TOPMed
gnomAD
CA1633750
rs190097300
34 N>S No ClinGen
ESP
ExAC
gnomAD
CA346638544
rs1327359321
35 L>I No ClinGen
gnomAD
CA346638542
rs1327359321
35 L>V No ClinGen
gnomAD
COSM575298
CA346638534
rs1287909838
36 A>S lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs1234095242
CA346638523
36 A>V No ClinGen
gnomAD
CA1633749
rs756710267
37 S>A No ClinGen
ExAC
gnomAD
CA346638512
rs1299881624
37 S>C No ClinGen
gnomAD
rs867304321
CA46398587
38 L>F No ClinGen
Ensembl
CA346638491
rs746311398
39 L>Q No ClinGen
ExAC
TOPMed
gnomAD
CA1633748
rs746311398
39 L>R No ClinGen
ExAC
TOPMed
gnomAD
rs1322977584
CA346638477
40 L>F No ClinGen
TOPMed
gnomAD
CA46398571
rs939793088
40 L>S No ClinGen
Ensembl
rs1462761453
CA346638473
41 H>N No ClinGen
TOPMed
rs17031095
CA1633746
41 H>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs781732522
CA1633747
41 H>R No ClinGen
ExAC
TOPMed
gnomAD
rs1462761453
CA346638468
41 H>Y No ClinGen
TOPMed
rs1478095865
CA346638448
42 C>F No ClinGen
gnomAD
CA346638455
rs1157911914
42 C>R No ClinGen
gnomAD
rs1048113778
CA46398561
44 Q>H No ClinGen
TOPMed
gnomAD
rs948577418
CA46398555
46 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs752800943
CA1633742
47 D>G No ClinGen
ExAC
gnomAD
rs1190298391
CA346638389
47 D>N No ClinGen
gnomAD
CA1633741
rs765246231
48 G>E No ClinGen
ExAC
gnomAD
CA46398520
rs966261634
48 G>R No ClinGen
TOPMed
gnomAD
rs759470335
CA1633740
52 I>M No ClinGen
ExAC
TOPMed
gnomAD
CA346638299
rs1366580296
53 H>P No ClinGen
gnomAD
CA346638291
rs1300388675
53 H>Q No ClinGen
gnomAD
CA346638297
rs1366580296
53 H>R No ClinGen
gnomAD
rs1232542477
CA346638301
53 H>Y No ClinGen
gnomAD
rs1301856743
CA346638284
54 Y>H No ClinGen
TOPMed
CA346638267
rs1396794348
55 I>M No ClinGen
TOPMed
rs1364888601
CA346638241
57 Q>H No ClinGen
TOPMed
gnomAD
rs796722393
CA46398510
57 Q>R No ClinGen
Ensembl
rs1559037948
CA346638205
58 I>V No ClinGen
Ensembl
rs1559037933
CA346638198
59 V>M No ClinGen
Ensembl
rs374109478
CA1633726
60 P>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1633724
rs201920573
62 L>P No ClinGen
1000Genomes
ExAC
gnomAD
CA1633725
rs777955569
62 L>V No ClinGen
ExAC
rs10210191
CA346638176
63 E>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs753819135
COSM264023
CA1633720
63 E>D large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA1633721
rs10210191
VAR_054070
63 E>G No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs779026905
CA1633722
63 E>K No ClinGen
ExAC
gnomAD
CA346638159
rs1348058200
66 D>H No ClinGen
TOPMed
rs760487579
CA1633718
68 N>T No ClinGen
ExAC
TOPMed
gnomAD
CA346638134
rs1290743677
69 G>D No ClinGen
gnomAD
rs992126127
CA46397809
70 M>L No ClinGen
Ensembl
CA346638111
rs1230210630
72 D>G No ClinGen
gnomAD
TCGA novel 72 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs376725588
CA1633715
73 P>S No ClinGen
ESP
ExAC
gnomAD
CA1633716
rs376725588
73 P>T No ClinGen
ESP
ExAC
gnomAD
rs1350960977
CA346638096
75 I>V No ClinGen
gnomAD
CA346638064
rs1559037735
79 L>* No ClinGen
Ensembl
rs1309767985
CA346638055
80 D>G No ClinGen
TOPMed
gnomAD
rs768333408
CA1633713
81 I>L No ClinGen
ExAC
TOPMed
gnomAD
CA1633712
rs762523260
81 I>T No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 81 I>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA346638043
rs1229281733
82 L>S No ClinGen
TOPMed
CA1633711
rs774826158
83 A>V No ClinGen
ExAC
gnomAD
rs747420918
CA1633709
84 G>C No ClinGen
ExAC
CA1633708
rs778208081
84 G>D No ClinGen
ExAC
TOPMed
gnomAD
rs563532541
CA1633707
85 I>N No ClinGen
1000Genomes
ExAC
gnomAD
rs1473122618
CA346638029
85 I>V No ClinGen
gnomAD
CA1633706
rs748423736
86 Y>C No ClinGen
ExAC
gnomAD
CA46397748
rs543742869
86 Y>H No ClinGen
1000Genomes
TOPMed
rs1472575065
CA346638018
87 L>F No ClinGen
gnomAD
CA346638007
rs1247325644
88 S>F No ClinGen
gnomAD
CA346638003
rs1223894871
89 L>* No ClinGen
gnomAD
rs779082057
CA1633705
90 S>N No ClinGen
ExAC
TOPMed
gnomAD
rs779082057
CA346637996
90 S>T No ClinGen
ExAC
TOPMed
gnomAD
CA346637991
rs1247069193
91 L>V No ClinGen
TOPMed
CA346637968
rs755086995
94 P>H No ClinGen
ExAC
TOPMed
gnomAD
CA1633704
rs755086995
94 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs1011417293
CA46397706
96 K>R No ClinGen
TOPMed
CA46397702
rs999453451
97 K>R No ClinGen
TOPMed
gnomAD
CA346637929
rs753948512
100 A>E No ClinGen
ExAC
gnomAD
rs753948512
CA1633702
100 A>V No ClinGen
ExAC
gnomAD
rs1437997483
CA346637924
101 S>N No ClinGen
gnomAD
rs1294938477
CA346637452
101 S>R No ClinGen
gnomAD
rs1362564904
CA346637447
102 S>* No ClinGen
TOPMed
CA46394910
rs1045137088
104 N>S No ClinGen
TOPMed
gnomAD
CA1633678
rs187052351
105 S>R No ClinGen
1000Genomes
ExAC
gnomAD
rs1317914716
CA346637401
106 L>R No ClinGen
TOPMed
CA346637409
rs1574385075
106 L>V No ClinGen
Ensembl
rs1449185117
CA346637390
107 P>R No ClinGen
TOPMed
gnomAD
rs751425959
CA1633677
108 D>G No ClinGen
ExAC
gnomAD
rs763927007
CA1633676
109 F>S No ClinGen
ExAC
gnomAD
CA46394898
rs985298678
109 F>V No ClinGen
Ensembl
rs758132464
CA1633675
110 F>S No ClinGen
ExAC
gnomAD
rs1313425386
CA346637347
110 F>V No ClinGen
TOPMed
rs1382663762 111 L>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA346637318
rs1431704911
112 P>H No ClinGen
gnomAD
CA346637314
rs1431704911
112 P>L No ClinGen
gnomAD
rs752291254
CA1633674
112 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs554376052
CA346637297
113 E>D No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA346637288
rs1222122921
114 A>G No ClinGen
TOPMed
gnomAD
rs768040706
CA1633670
115 M>T No ClinGen
ExAC
TOPMed
gnomAD
rs773805885
CA1633671
115 M>V No ClinGen
ExAC
gnomAD
rs371688194
CA46394860
116 H>Y No ClinGen
ESP
TOPMed
rs61756227
CA1633668
117 R>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs61756227
CA346637248
117 R>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA1633667
rs200662249
117 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs61756227
CA1633669
117 R>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA1633666
rs749590222
118 F>L No ClinGen
ExAC
gnomAD
rs1483742220
CA346637002
121 R>C No ClinGen
TOPMed
gnomAD
RCV000201356
CA210161
rs769958179
121 R>H No ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
CA46394829
rs371880874
122 L>F No ClinGen
1000Genomes
ExAC
gnomAD
CA1633663
rs371880874
122 L>V No ClinGen
1000Genomes
ExAC
gnomAD
rs1432997766
CA346636983
123 Q>* No ClinGen
gnomAD
CA346636980
rs1158134615
123 Q>R No ClinGen
TOPMed
rs1559030616
CA346636965
124 E>G No ClinGen
Ensembl
rs781374845
CA1633662
124 E>K No ClinGen
ExAC
gnomAD
rs757277865
CA1633661
127 N>S No ClinGen
ExAC
TOPMed
gnomAD
CA346636920
rs1416427071
128 T>A No ClinGen
TOPMed
CA1633660
rs746879882
129 T>A No ClinGen
ExAC
gnomAD
rs777782318
CA1633659
129 T>I No ClinGen
ExAC
gnomAD
rs777782318
CA346636907
129 T>S No ClinGen
ExAC
gnomAD
rs1368756265
CA346636868
132 Y>* No ClinGen
TOPMed
gnomAD
CA1633657
rs375237551
132 Y>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA346636854
rs1458561964
134 Y>H No ClinGen
gnomAD
rs752439110
CA1633655
135 R>S No ClinGen
ExAC
gnomAD
rs754617107
CA1633653
136 K>N No ClinGen
ExAC
TOPMed
gnomAD
rs753309055
CA346636811
137 V>F No ClinGen
ExAC
TOPMed
gnomAD
rs753309055
CA1633652
137 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs1416968309
CA346636802
138 T>N No ClinGen
gnomAD
CA1633650
rs185258611
140 N>K No ClinGen
1000Genomes
ExAC
gnomAD
rs765816694
CA1633651
140 N>S No ClinGen
ExAC
TOPMed
gnomAD
CA346636786
rs1182782833
140 N>Y No ClinGen
gnomAD
CA346636776
rs199590427
141 I>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA1633649
rs199590427
141 I>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA346636761
rs764492617
142 S>C No ClinGen
ExAC
gnomAD
rs764492617
CA346636760
142 S>F No ClinGen
ExAC
gnomAD
CA346636765
rs1221330869
142 S>T No ClinGen
TOPMed
CA1633648
rs764492617
142 S>Y No ClinGen
ExAC
gnomAD
rs1262235838
CA346636748
143 S>F No ClinGen
TOPMed
CA346636740
rs763197877
144 C>S No ClinGen
ExAC
gnomAD
CA1633647
rs763197877
144 C>Y No ClinGen
ExAC
gnomAD
rs1334591727
CA346636729
145 M>T No ClinGen
gnomAD
CA346636680
rs1559030297
149 N>K No ClinGen
Ensembl
CA346636673
rs1334534699
150 L>F No ClinGen
TOPMed
gnomAD
rs1418373568
CA346636675
150 L>W No ClinGen
gnomAD
rs760802119
CA1633621
153 A>G No ClinGen
ExAC
gnomAD
CA346636620
rs1378824414
157 N>D No ClinGen
gnomAD
rs1453363621
CA346636616
157 N>K No ClinGen
gnomAD
CA1633620
rs375247905
157 N>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1633619
rs375247905
157 N>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA346636602
rs1248267446
160 K>E No ClinGen
TOPMed
gnomAD
CA1633618
rs748059357
160 K>R No ClinGen
ExAC
TOPMed
gnomAD
rs778575494
CA1633617
161 N>S No ClinGen
ExAC
gnomAD
CA46394548
rs371217345
164 H>R No ClinGen
ESP
gnomAD
rs1362826136
CA346636548
166 L>R No ClinGen
TOPMed
CA1633600
rs774331636
166 L>V No ClinGen
ExAC
gnomAD
rs768385428
CA1633599
167 Q>* No ClinGen
ExAC
gnomAD
CA1633597
rs775217705
167 Q>H No ClinGen
ExAC
TOPMed
gnomAD
CA1633598
rs771119860
167 Q>P No ClinGen
ExAC
TOPMed
gnomAD
rs771119860
CA346636545
167 Q>R No ClinGen
ExAC
TOPMed
gnomAD
CA1633596
rs78981041
168 K>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1330341746
CA346636533
169 S>C No ClinGen
gnomAD
rs1407807074
CA346636523
170 L>* No ClinGen
gnomAD
CA46394532
rs372211488
171 I>F No ClinGen
TOPMed
gnomAD
CA1633595
rs745459510
172 E>Q No ClinGen
ExAC
gnomAD
CA1633594
rs780637216
173 I>M No ClinGen
ExAC
gnomAD
CA346636496
rs1416216352
175 E>K No ClinGen
gnomAD
CA46394523
rs373673928
177 N>I No ClinGen
Ensembl
CA346636471
rs1379099598
178 R>T No ClinGen
TOPMed
CA346636241
rs1329704162
179 K>R No ClinGen
TOPMed
gnomAD
rs1329704162
CA346636242
179 K>T No ClinGen
TOPMed
gnomAD
rs368526940
CA346636230
180 C>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs527902461
CA1633574
182 G>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs867681644
CA46392683
184 H>Y No ClinGen
Ensembl
rs1274964297
CA346636197
185 I>M No ClinGen
gnomAD
CA46392680
rs1026918286
186 I>V No ClinGen
TOPMed
gnomAD
rs573213556
CA46392676
187 Q>* No ClinGen
Ensembl
CA346636176
rs1442591633
189 Q>E No ClinGen
gnomAD
rs946649968
CA46392673
189 Q>R No ClinGen
TOPMed
CA346636156
rs1436273757
191 M>I No ClinGen
gnomAD
rs1325577276
CA346636159
191 M>R No ClinGen
gnomAD
rs770392688
CA1633573
191 M>V No ClinGen
ExAC
gnomAD
CA1633572
rs746557034
193 D>E No ClinGen
ExAC
gnomAD
rs1285125546
CA346636147
193 D>N No ClinGen
gnomAD
CA346636133
rs1387135388
195 L>M No ClinGen
gnomAD
rs1359083827
CA346636129
195 L>P No ClinGen
TOPMed
rs1157532204
CA346636125
196 V>A No ClinGen
TOPMed
gnomAD
rs1157532204
CA346636124
196 V>G No ClinGen
TOPMed
gnomAD
CA46392658
rs192535319
196 V>I No ClinGen
1000Genomes
TOPMed
rs192535319
CA346636127
COSM323806
196 V>L lung [Cosmic] No ClinGen
cosmic curated
1000Genomes
TOPMed
CA346636122
rs1372425372
197 G>R No ClinGen
gnomAD
rs1372425372
CA346636123
197 G>S No ClinGen
gnomAD
CA1633570
rs1425909809
198 I>F No ClinGen
TOPMed
gnomAD
CA346636103
rs1175624595
200 V>I No ClinGen
TOPMed
gnomAD
CA46392641
rs985711679
202 M>I No ClinGen
Ensembl
CA1633567
rs749747632
202 M>V No ClinGen
ExAC
TOPMed
gnomAD
rs562360663
CA1633566
203 M>I No ClinGen
1000Genomes
ExAC
gnomAD
CA346636080
rs1189523324
203 M>T No ClinGen
gnomAD
CA1633565
rs756534688
204 L>F No ClinGen
ExAC
gnomAD
CA1633562
rs757372040
205 V>A No ClinGen
ExAC
gnomAD
rs781444863
CA1633563
205 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs781444863
CA1633564
205 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs751672696
CA1633561
206 Q>H No ClinGen
ExAC
gnomAD
CA346636064
rs1487861295
206 Q>P No ClinGen
TOPMed
CA346636046
rs1302222650
209 Q>* No ClinGen
gnomAD
rs1228748924
CA346636040
209 Q>H No ClinGen
gnomAD
CA46392621
rs997144677
210 D>Y Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA346636021
rs1258248593
212 Q>* No ClinGen
TOPMed
rs548649234
CA1633558
212 Q>R No ClinGen
1000Genomes
ExAC
gnomAD
CA1633557
rs765062132
213 G>E No ClinGen
ExAC
gnomAD
rs899848397
CA46392616
213 G>R No ClinGen
TOPMed
CA346636000
rs1360262469
215 L>R No ClinGen
gnomAD
CA1633556
rs759340475
216 W>* No ClinGen
ExAC
TOPMed
gnomAD
rs776254069
CA1633555
218 T>S No ClinGen
ExAC
gnomAD
CA1633551
rs771706208
220 D>N No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 220 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA346635961
rs1421332309
221 S>C No ClinGen
gnomAD
CA1633549
rs780685814
222 P>A No ClinGen
ExAC
rs770322476
CA1633548
222 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA1633550
rs780685814
222 P>S No ClinGen
ExAC
rs746266806
CA1633547
223 I>M No ClinGen
ExAC
gnomAD
rs1258140359
CA346635934
224 W>C No ClinGen
gnomAD
CA346635914
rs1213012572
225 Q>H No ClinGen
gnomAD
rs781353623
CA46392585
226 N>D No ClinGen
ExAC
TOPMed
gnomAD
rs781353623
CA1633546
226 N>H No ClinGen
ExAC
TOPMed
gnomAD
CA1633543
CA46392574
rs777886527
227 M>I No ClinGen
ExAC
TOPMed
gnomAD
rs372882224
CA1633544
227 M>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1633545
rs757505254
227 M>V No ClinGen
ExAC
gnomAD
CA346635882
rs1293806223
228 C>S No ClinGen
TOPMed
gnomAD
rs752668175
CA1633541
232 S>N No ClinGen
ExAC
gnomAD
CA1633540
rs759347057
233 I>F No ClinGen
ExAC
gnomAD
rs759347057
CA1633539
233 I>V No ClinGen
ExAC
gnomAD
TCGA novel 234 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA46392552
rs368496560
235 T>S No ClinGen
ESP
TOPMed
rs375004363
CA46392548
236 K>E No ClinGen
ESP
TOPMed
CA46392544
rs868430723
236 K>N No ClinGen
gnomAD
rs753683747
CA1633538
236 K>T No ClinGen
ExAC
gnomAD
CA346635708
rs1342822134
240 D>G No ClinGen
TOPMed
COSM3839558
CA346635716
rs1257621847
240 D>N Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
rs962010398
CA46392540
241 D>N No ClinGen
TOPMed
gnomAD
CA46391014
rs542350440
242 D>H No ClinGen
TOPMed
gnomAD
rs542350440
CA346635131
242 D>Y No ClinGen
TOPMed
gnomAD
rs750141761
CA1633519
243 L>V No ClinGen
ExAC
gnomAD
CA346635094
rs1366391218
245 Q>K No ClinGen
TOPMed
CA346635069
rs1437817376
246 T>S No ClinGen
TOPMed
CA1633516
rs761499306
248 Q>* No ClinGen
ExAC
rs774002336
CA1633515
248 Q>R No ClinGen
ExAC
TOPMed
gnomAD
rs1304548798
CA346635035
249 S>N No ClinGen
TOPMed
gnomAD
CA1633514
rs763506875
250 T>I No ClinGen
ExAC
TOPMed
gnomAD
CA1633512
rs776978690
251 S>P No ClinGen
ExAC
TOPMed
CA1633511
rs373077677
251 S>Y No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1633508
rs183134956
255 I>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs987323546
CA46390978
256 I>F No ClinGen
Ensembl
rs1361514196
CA346634943
256 I>T No ClinGen
TOPMed
gnomAD
rs748307255
CA346634931
257 L>F No ClinGen
ExAC
gnomAD
CA1633507
rs748307255
257 L>I No ClinGen
ExAC
gnomAD
rs779034878
CA1633506
259 I>T No ClinGen
ExAC
TOPMed
gnomAD
rs749298853
CA1633504
260 K>N No ClinGen
ExAC
TOPMed
gnomAD
CA1633505
rs755001688
260 K>T No ClinGen
ExAC
gnomAD
rs371326573
CA46390952
261 T>I No ClinGen
TOPMed
CA46390957
rs371326573
261 T>S No ClinGen
TOPMed
rs376415620
CA346634883
262 M>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs376415620
CA1633503
262 M>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs756039806
CA1633502
263 F>L No ClinGen
ExAC
rs750266449
CA1633501
264 H>P No ClinGen
ExAC
gnomAD
rs563970271
CA1633499
265 P>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA1633500
rs372665084
265 P>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1235117763
CA346634856
266 S>P No ClinGen
gnomAD
rs763707006
CA1633497
269 I>S No ClinGen
ExAC
TOPMed
gnomAD
CA1633495
rs775022070
270 P>A No ClinGen
ExAC
gnomAD
CA346634825
rs1330263180
270 P>L No ClinGen
gnomAD
rs766813273
CA1633494
271 H>Q No ClinGen
ExAC
gnomAD
CA346634820
rs1383797947
271 H>R No ClinGen
gnomAD
CA1633473
rs762135972
273 I>T No ClinGen
ExAC
TOPMed
gnomAD
rs953638717
CA46390174
273 I>V No ClinGen
TOPMed
gnomAD
CA346634790
rs1334640193
274 S>N No ClinGen
TOPMed
CA346634782
rs1030459797
275 S>N No ClinGen
gnomAD
CA46390169
rs1030459797
275 S>T No ClinGen
gnomAD
rs774739883
CA1633472
276 V>M No ClinGen
ExAC
gnomAD
CA46390164
rs561564298
277 L>R No ClinGen
1000Genomes
gnomAD
COSM116120
rs1257223390
CA346634761
279 R>C ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
COSM3426466
CA46390142
rs369231765
279 R>H large_intestine Variant assessed as Somatic; 0.000101 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ESP
NCI-TCGA
gnomAD
rs768783970
CA1633471
280 S>* No ClinGen
ExAC
gnomAD
rs775499084
CA1633469
281 V>L No ClinGen
ExAC
gnomAD
rs775499084
CA346634753
COSM264022
281 V>M Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs538530020
CA1633467
282 D>G No ClinGen
ExAC
gnomAD
rs538530020
CA46390099
282 D>V No ClinGen
ExAC
gnomAD
CA346634737
rs1286920044
283 C>F No ClinGen
TOPMed
CA346634739
rs1286920044
283 C>Y No ClinGen
TOPMed
CA46390083
rs371970621
284 T>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1633466
rs371970621
284 T>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA346634734
rs1574337915
284 T>P No ClinGen
Ensembl
rs770948035
CA1633465
285 S>N No ClinGen
ExAC
rs746799499
CA346634725
285 S>R No ClinGen
ExAC
TOPMed
gnomAD
rs770948035
CA346634727
285 S>T No ClinGen
ExAC
CA1633461
rs752394069
288 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs1234716275
CA346634682
291 M>I No ClinGen
gnomAD
CA1633459
rs372607575
291 M>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1179874234
CA346634640
294 C>F No ClinGen
gnomAD
rs1574337673
CA346634630
295 R>G No ClinGen
Ensembl
CA346634605
rs1237283868
296 S>N No ClinGen
gnomAD
CA1633456
rs762258981
296 S>R No ClinGen
ExAC
gnomAD
rs1044763854
CA46390052
297 L>V No ClinGen
Ensembl
rs764514355
CA1633454
299 C>Y No ClinGen
ExAC
gnomAD
CA346634557
rs1227718499
300 G>C No ClinGen
TOPMed
gnomAD
rs1227718499
CA346634555
300 G>S No ClinGen
TOPMed
gnomAD
CA346634553
rs1350721648
300 G>V No ClinGen
gnomAD
CA346634525
rs1416806982
302 I>T No ClinGen
TOPMed
rs1375710201
CA346634506
303 S>F No ClinGen
gnomAD
rs896404841
CA46390035
304 Q>* No ClinGen
Ensembl
rs1443358478
CA346634481
305 S>L No ClinGen
TOPMed
CA1633452
rs763142807
305 S>T No ClinGen
ExAC
TOPMed
gnomAD
CA1633451
rs775758130
306 A>T No ClinGen
ExAC
gnomAD
CA346634468
rs1323443986
307 V>I No ClinGen
gnomAD
rs759717863
CA1633449
308 L>F No ClinGen
ExAC
gnomAD
rs776800885
CA1633448
309 F>L No ClinGen
ExAC
TOPMed
gnomAD
rs746894384
CA1633447
311 C>F No ClinGen
ExAC
gnomAD
CA1633446
rs746894384
311 C>Y No ClinGen
ExAC
gnomAD
CA1633443
rs771891596
315 L>I No ClinGen
ExAC
gnomAD
CA46389955
rs902372621
315 L>P No ClinGen
Ensembl
rs188056909
CA346634332
316 A>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs188056909
CA1633442
316 A>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1285676347
CA346634329
317 M>V No ClinGen
gnomAD
TCGA novel 318 L>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1202859720
CA346634253
321 Q>H No ClinGen
gnomAD
rs1303670219
CA346634231
323 G>R No ClinGen
gnomAD
COSM258178
CA1633439
rs748820550
324 S>N Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs757709873
CA1633437
325 M>V No ClinGen
ExAC
TOPMed
gnomAD
rs1347472487
CA346634178
326 G>D No ClinGen
TOPMed
gnomAD
rs1347472487
CA346634174
326 G>V No ClinGen
TOPMed
gnomAD
rs376879544
CA1633435
327 R>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA1633436
rs572379924
327 R>W No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA1633433
rs201664851
328 S>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
COSM721828
CA346634141
rs1395728271
329 G>V lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
rs765575282
CA46389886
330 E>D No ClinGen
ExAC
TOPMed
gnomAD
CA1633431
rs759772148
331 A>G No ClinGen
ExAC
gnomAD
TCGA novel 333 L>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1633429
rs766559656
335 D>G No ClinGen
ExAC
TOPMed
CA346634056
rs1243770388
336 T>A No ClinGen
TOPMed
gnomAD
rs1214431942
CA346634052
336 T>I No ClinGen
gnomAD
rs1487659092
CA346634046
337 A>V No ClinGen
gnomAD
CA1633428
rs760591847
338 H>R No ClinGen
ExAC
TOPMed
gnomAD
rs1345311648
CA346634035
339 V>A No ClinGen
gnomAD
rs773181831
CA1633427
342 T>I No ClinGen
ExAC
gnomAD
rs771805446
CA1633426
343 L>V No ClinGen
ExAC
gnomAD
rs1356123112
CA346634003
344 S>N No ClinGen
gnomAD
CA346633993
rs1433027429
345 S>L No ClinGen
gnomAD
rs372846729
CA46389872
346 Q>R No ClinGen
Ensembl
TCGA novel 349 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1633407
rs374567530
349 E>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs111983293
CA1633406
351 T>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA1633405
rs138256193
COSM1021012
351 T>M endometrium [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA346633612
rs1243311242
353 E>D No ClinGen
gnomAD
rs958290138
CA46388640
354 M>I No ClinGen
TOPMed
rs1384016339
CA346633591
355 F>C No ClinGen
TOPMed
CA346633570
rs1307825787
357 S>P No ClinGen
gnomAD
rs1331011406
CA346633534
359 I>M No ClinGen
gnomAD
rs769289194
CA1633402
359 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA346633527
rs1445762223
360 L>F No ClinGen
gnomAD
TCGA novel 361 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1395013983
CA346633497
362 S>F No ClinGen
gnomAD
rs1327806763
CA346633471
364 T>S No ClinGen
TOPMed
gnomAD
rs780508349
CA1633400
367 A>G No ClinGen
ExAC
TOPMed
gnomAD
rs772635151
CA1633399
368 I>V No ClinGen
ExAC
gnomAD
rs1032432772
CA46388620
369 Q>E No ClinGen
Ensembl
CA1633397
rs779474834
369 Q>H No ClinGen
ExAC
gnomAD
rs748656149
CA1633398
369 Q>R No ClinGen
ExAC
gnomAD
rs1284268876
CA346633348
372 E>G No ClinGen
TOPMed
rs201237775
CA1633395
372 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1633393
rs756243212
374 S>R No ClinGen
ExAC
gnomAD
rs959545488
CA46388613
375 S>F No ClinGen
TOPMed
gnomAD
rs959545488
CA346633298
375 S>Y No ClinGen
TOPMed
gnomAD
CA1633392
rs750531653
376 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA346633291
rs750531653
COSM1288449
376 P>Q autonomic_ganglia [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA1633390
rs566504845
379 T>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA346633177
rs1305382606
382 L>P No ClinGen
gnomAD
CA1633387
rs200284081
383 N>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1389924294
CA346633142
384 G>R No ClinGen
gnomAD
CA1633386
rs546364711
385 N>S No ClinGen
1000Genomes
ExAC
gnomAD
CA1633383
rs776269375
388 I>M No ClinGen
ExAC
gnomAD
CA1633381
rs748717251
389 V>A No ClinGen
ExAC
TOPMed
gnomAD
CA1633382
rs563721551
389 V>I No ClinGen
1000Genomes
ExAC
gnomAD
CA1633380
rs550760548
390 G>R No ClinGen
1000Genomes
ExAC
gnomAD
rs200288894
CA1633378
391 R>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA346633001
rs1188855259
392 L>V No ClinGen
gnomAD
rs1055756807
CA46388575
393 L>S No ClinGen
TOPMed
rs756363512
CA346632976
394 E>* No ClinGen
ExAC
TOPMed
gnomAD
CA1633376
rs756363512
394 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA1633374
rs781391774
395 Y>C No ClinGen
ExAC
gnomAD
CA1633375
rs750608341
395 Y>H No ClinGen
ExAC
gnomAD
rs757294125
CA1633373
396 V>A No ClinGen
ExAC
gnomAD
CA1633372
rs369822260
397 Y>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1633370
rs762817926
399 H>L No ClinGen
ExAC
gnomAD
TCGA novel 399 H>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1401808689
CA346632895
399 H>Y No ClinGen
gnomAD
CA1633368
rs764933076
400 W>* No ClinGen
ExAC
gnomAD
CA46388509
rs764933076
400 W>C No ClinGen
ExAC
gnomAD
rs865883026
CA46388492
401 E>K No ClinGen
TOPMed
gnomAD
CA1633367
rs759289122
402 H>Y No ClinGen
ExAC
gnomAD
rs1465839619
CA346632811
403 P>T No ClinGen
gnomAD
rs772804097
CA1633363
405 D>G No ClinGen
ExAC
TOPMed
gnomAD
rs1391638377
CA346632781
405 D>H No ClinGen
gnomAD
CA1633364
rs772804097
405 D>V No ClinGen
ExAC
TOPMed
gnomAD
CA1633362
COSM4133845
rs113096905
406 A>T thyroid [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA346632758
rs1188749010
406 A>V No ClinGen
gnomAD
rs936713955
CA46388454
407 L>P No ClinGen
TOPMed
gnomAD
rs749745614
CA346632751
407 L>V No ClinGen
ExAC
gnomAD
CA346632717
TCGA novel
rs1343991670
409 H>Q Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
TOPMed
gnomAD
NCI-TCGA
rs775991524
CA1633360
409 H>Y No ClinGen
ExAC
gnomAD
TCGA novel 413 I>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA346632658
rs1433412990
413 I>M No ClinGen
TOPMed
rs770042940
CA1633359
413 I>T No ClinGen
ExAC
gnomAD
rs1559003611
CA346632666
413 I>V No ClinGen
Ensembl
rs1375740542
CA346632628
414 M>T No ClinGen
TOPMed
CA346632652
rs1177892619
414 M>V No ClinGen
TOPMed
rs977865363
CA46388450
415 F>S No ClinGen
TOPMed
CA346632571
rs1315997335
416 K>R No ClinGen
TOPMed
gnomAD
CA346632572
rs1315997335
416 K>T No ClinGen
TOPMed
gnomAD
TCGA novel 418 L>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs781298683
CA1633357
418 L>V No ClinGen
ExAC
gnomAD
rs1574327276
CA346632475
421 M>I No ClinGen
Ensembl
CA1633355
rs747104937
422 H>D No ClinGen
ExAC
TOPMed
gnomAD
CA346632470
rs747104937
422 H>N No ClinGen
ExAC
TOPMed
gnomAD
CA1633354
rs777760369
COSM477418
422 H>Q kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs1372802416
CA346632465
422 H>R No ClinGen
TOPMed
rs752561176
CA1633352
423 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA1633353
rs758393859
423 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs765126430
CA1633351
424 L>F No ClinGen
ExAC
TOPMed
gnomAD
CA346632397
rs1559003395
427 E>G No ClinGen
Ensembl
rs986923172
CA46388430
429 A>T No ClinGen
Ensembl
CA46388423
rs951115589
429 A>V No ClinGen
gnomAD
CA1633348
rs766156996
430 D>G No ClinGen
ExAC
gnomAD
CA346632363
rs1476213323
430 D>N No ClinGen
TOPMed
gnomAD
rs1187055969
CA346632346
431 F>I No ClinGen
gnomAD
rs17031074
CA1633347
431 F>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA1633344
rs763574266
432 V>D No ClinGen
ExAC
TOPMed
gnomAD
rs767131147
CA1633345
432 V>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1257322269
CA346632310
433 P>L No ClinGen
gnomAD
rs1257322269
CA346632311
433 P>R No ClinGen
gnomAD
CA1633343
rs775840394
433 P>T No ClinGen
ExAC
gnomAD
rs770293416
CA1633342
434 D>Y No ClinGen
ExAC
gnomAD
CA1633341
rs746239295
435 P>A No ClinGen
ExAC
CA1633339
rs771146349
435 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA1633340
rs771146349
435 P>R No ClinGen
ExAC
gnomAD
TCGA novel 438 V>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs959197845
CA46388397
440 L>F No ClinGen
TOPMed
gnomAD
rs182434450
COSM1267743
CA1633338
CA346632142
442 E>D oesophagus [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 443 S>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA346632115
rs777885047
444 L>F No ClinGen
ExAC
TOPMed
gnomAD
CA1633337
rs777885047
444 L>I No ClinGen
ExAC
TOPMed
gnomAD
CA1633335
rs758447438
446 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs748153743
CA346632073
446 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA1633334
rs748153743
446 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA1633332
rs536278126
451 I>F No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 453 G>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1034660406
CA346631894
455 Y>* No ClinGen
TOPMed
gnomAD
rs753593586
CA1633331
455 Y>C No ClinGen
ExAC
gnomAD
CA1633330
COSM575300
rs574838357
456 T>M lung kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
1000Genomes
ExAC
NCI-TCGA
gnomAD
CA1633329
rs755897760
457 C>Y No ClinGen
ExAC
gnomAD
rs200743409
CA346631834
459 G>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs374224899
CA1633327
459 G>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs200743409
CA1633328
459 G>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs544356267
CA1633326
460 C>G No ClinGen
1000Genomes
ExAC
gnomAD
rs879006430
CA46388349
463 E>Q No ClinGen
Ensembl
CA1633324
rs765675388
464 C>G No ClinGen
ExAC
gnomAD
rs1342866583
CA346631680
465 I>L No ClinGen
TOPMed
rs892547556
CA46388337
465 I>T No ClinGen
Ensembl
rs1559002678
CA346631669
466 G>E No ClinGen
Ensembl
rs760020600
CA1633323
466 G>R No ClinGen
ExAC
gnomAD
rs575482607
CA1633322
468 E>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA346631648
rs1213345074
468 E>K No ClinGen
TOPMed
CA1633321
rs376940925
469 H>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1633320
rs760933752
470 I>T No ClinGen
ExAC
gnomAD
CA1633319
rs773389210
472 A>G No ClinGen
ExAC
TOPMed
CA46432263
rs993583336
472 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs1559002553
CA346657909
473 I>M No ClinGen
Ensembl
rs1559002562
CA346657917
473 I>V No ClinGen
Ensembl
CA1633317
rs748201612
474 D>G No ClinGen
ExAC
TOPMed
gnomAD
CA1633318
rs374531354
474 D>H No ClinGen
ESP
ExAC
gnomAD
rs778997097
CA1633316
475 K>E No ClinGen
ExAC
gnomAD
rs925305767
CA46432243
475 K>R No ClinGen
TOPMed
rs1574326192
CA346657879
476 T>A No ClinGen
Ensembl
CA1633315
rs768485836
476 T>S No ClinGen
ExAC
gnomAD
CA1633313
rs780053672
477 I>T No ClinGen
ExAC
gnomAD
CA1633314
rs558816839
477 I>V No ClinGen
1000Genomes
ExAC
gnomAD
rs183744600
CA1633312
478 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA346657809
rs1379397615
480 Q>* No ClinGen
gnomAD
CA346657812
rs1379397615
480 Q>E No ClinGen
gnomAD
CA346657723
rs1191566196
485 M>L No ClinGen
gnomAD
rs1478923285
CA346657696
486 G>A No ClinGen
gnomAD
CA1633308
rs751035278
487 D>E No ClinGen
ExAC
gnomAD
CA1633309
rs756875117
487 D>H No ClinGen
ExAC
TOPMed
gnomAD
CA346657689
rs756875117
487 D>N No ClinGen
ExAC
TOPMed
gnomAD
CA1633307
rs763655641
488 Q>P No ClinGen
ExAC
gnomAD
CA1633305
rs754316919
490 L>F No ClinGen
ExAC
gnomAD
rs1221283743
CA346657607
491 V>I No ClinGen
TOPMed
gnomAD
rs1221283743
CA346657599
491 V>L No ClinGen
TOPMed
gnomAD
rs1365991732
CA346657584
492 P>A No ClinGen
gnomAD
rs370221808
CA46432197
492 P>R No ClinGen
ESP
CA1633302
rs376887948
493 Y>* No ClinGen
ESP
ExAC
gnomAD
CA1633304
rs761056362
493 Y>C No ClinGen
ExAC
TOPMed
gnomAD
CA1633303
rs761056362
493 Y>F No ClinGen
ExAC
TOPMed
gnomAD
CA1633300
rs762033664
494 A>E No ClinGen
ExAC
gnomAD
rs1332087317
CA346657543
494 A>S No ClinGen
TOPMed
gnomAD
rs774365340
CA1633299
495 S>N No ClinGen
ExAC
gnomAD
CA346657529
rs774365340
495 S>T No ClinGen
ExAC
gnomAD
CA46432170
rs986987195
496 D>N No ClinGen
Ensembl
rs768767513
CA46432169
497 L>F No ClinGen
ExAC
TOPMed
gnomAD
CA1633298
rs768767513
497 L>I No ClinGen
ExAC
TOPMed
gnomAD
rs780109636
CA46432140
500 T>N No ClinGen
ExAC
TOPMed
gnomAD
rs780109636
CA1633296
500 T>S No ClinGen
ExAC
TOPMed
gnomAD
CA46432132
rs973839785
501 M>I No ClinGen
TOPMed
gnomAD
rs1478119181
CA346657415
501 M>T No ClinGen
TOPMed
gnomAD
rs769804145
CA1633295
501 M>V No ClinGen
ExAC
gnomAD
rs745668829
CA1633294
503 R>T No ClinGen
ExAC
gnomAD
CA1633293
rs370538247
504 N>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs377667791
CA1633291
505 H>P No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs377667791
CA1633292
505 H>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA346657368
rs1257753794
505 H>Y No ClinGen
gnomAD
rs1358224775
CA346657355
506 K>E No ClinGen
TOPMed
CA46432122
rs1034030690
506 K>T No ClinGen
Ensembl
rs1559001962
CA346657336
507 S>T No ClinGen
Ensembl
rs757891998
CA1633289
508 H>R No ClinGen
ExAC
TOPMed
gnomAD
CA46432095
rs1001822921
509 L>F No ClinGen
Ensembl
CA346657271
rs1214876011
512 Q>H No ClinGen
TOPMed
rs766897390
CA1633287
514 A>S No ClinGen
ExAC
TOPMed
gnomAD
CA1633285
rs374097298
516 S>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1633284
rs767923431
517 S>C No ClinGen
ExAC
gnomAD
rs767923431
CA346657211
517 S>F No ClinGen
ExAC
gnomAD
CA346657213
rs767923431
517 S>Y Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1333276578
CA346657198
518 W>* No ClinGen
gnomAD
rs1357163270
CA346657206
518 W>R No ClinGen
gnomAD
CA46432066
rs1010017656
519 I>N No ClinGen
TOPMed
gnomAD
rs370201492
CA1633282
521 Q>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA346657147
rs764120566
522 W>* No ClinGen
ExAC
gnomAD
CA1633281
rs764120566
522 W>C No ClinGen
ExAC
gnomAD
CA346657137
rs1477192377
523 H>R No ClinGen
gnomAD
rs1469355524
CA346657118
COSM285691
524 E>D large_intestine [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
rs1413929856
CA346657114
525 T>P No ClinGen
gnomAD
rs775651138
CA1633279
526 W>* No ClinGen
ExAC
gnomAD
CA346657060
rs1360185311
529 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs1459419520
CA346657047
530 L>P No ClinGen
gnomAD
CA46432012
rs201592210
531 L>F No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs776347080
CA1633275
531 L>H No ClinGen
ExAC
TOPMed
gnomAD
CA346657039
rs776347080
531 L>P No ClinGen
ExAC
TOPMed
gnomAD
rs201592210
CA1633276
531 L>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA1633274
rs770732836
533 I>V No ClinGen
ExAC
gnomAD
CA1633272
rs777509903
535 C>Y No ClinGen
ExAC
gnomAD
TCGA novel 539 L>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs757994832
CA1633271
540 D>E No ClinGen
ExAC
gnomAD
CA46431975
rs903828807
542 K>N No ClinGen
Ensembl
rs778331517
CA1633269
545 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs373776485
CA1633268
546 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1166301918
CA346656898
547 D>G No ClinGen
gnomAD
rs1178915152
CA346656879
CA346656880
549 Y>* No ClinGen
gnomAD
rs1412609772
CA346656882
549 Y>C No ClinGen
gnomAD
rs1201731424
CA346656868
551 P>Q No ClinGen
TOPMed
rs1559001413
CA346656869
551 P>S No ClinGen
Ensembl
rs547589215
CA46431949
552 K>E No ClinGen
TOPMed
gnomAD
CA346656844
rs757612165
555 S>G No ClinGen
ExAC
gnomAD
rs757612165
CA1633264
555 S>R No ClinGen
ExAC
gnomAD
CA1633263
rs751832787
555 S>R No ClinGen
ExAC
gnomAD
rs1180865189
CA346656838
556 Y>N No ClinGen
TOPMed
gnomAD
CA1633262
rs764389372
557 S>I No ClinGen
ExAC
gnomAD
rs1242627579
CA346656822
558 P>A No ClinGen
gnomAD
rs763199618
CA1633261
558 P>R No ClinGen
ExAC
gnomAD
rs1242627579
CA346656821
558 P>S No ClinGen
gnomAD
CA346656817
rs1306827318
559 E>Q No ClinGen
gnomAD
rs1445874827
CA346656785
562 Q>H No ClinGen
gnomAD
rs1468802163
CA346656779
563 Y>D No ClinGen
TOPMed
rs926466082
CA46431869
564 M>I No ClinGen
TOPMed
rs1295284613
CA346656753
564 M>T No ClinGen
gnomAD
CA346656758
rs1368214180
564 M>V No ClinGen
TOPMed
gnomAD
CA1633260
rs369020610
565 V>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA46431857
rs773638203
566 K>E No ClinGen
TOPMed
gnomAD
CA1633259
rs765394668
569 Q>R No ClinGen
ExAC
gnomAD
TCGA novel 570 T>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs759591433
CA1633258
570 T>N No ClinGen
ExAC
gnomAD
rs1378788540
CA346656659
570 T>P No ClinGen
TOPMed
gnomAD
CA346656646
rs1332794911
571 S>T No ClinGen
TOPMed
CA1633257
rs776596485
571 S>Y No ClinGen
ExAC
gnomAD
rs199908402
CA1633255
572 I>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs374684384
CA1633256
572 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA46431836
rs918778618
573 D>G No ClinGen
TOPMed
gnomAD
CA46431830
rs918778618
573 D>V No ClinGen
TOPMed
gnomAD
CA1633254
rs190809237
574 A>D No ClinGen
ExAC
TOPMed
gnomAD
rs190809237
CA46431821
574 A>G No ClinGen
ExAC
TOPMed
gnomAD
rs771720735
CA1633253
575 K>E No ClinGen
ExAC
gnomAD
CA346656565
rs1559000963
576 T>A No ClinGen
Ensembl
CA346656554
rs1221470750
576 T>I No ClinGen
TOPMed
gnomAD
rs1574324013
CA346656550
577 G>R No ClinGen
Ensembl
rs1423041979
CA346656430
581 S>C No ClinGen
gnomAD
rs758800386
CA1633227
586 G>A No ClinGen
ExAC
TOPMed
gnomAD
rs758800386
CA46430794
586 G>V No ClinGen
ExAC
TOPMed
gnomAD
rs1029241929
CA46430784
587 S>F No ClinGen
TOPMed
gnomAD
CA46430779
rs776702694
588 C>Y No ClinGen
Ensembl
CA46430774
rs1007626152
589 N>Y No ClinGen
Ensembl
rs1258607495
CA346656377
590 S>G No ClinGen
gnomAD
COSM477416
CA346656366
rs1200495102
591 R>M kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
rs753067460
CA1633226
591 R>S No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 592 G>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 593 A>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1397565574 593 A>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA46430721
rs1052092517
595 G>A No ClinGen
gnomAD
rs1306579286
CA346656338
596 A>G No ClinGen
TOPMed
CA346656342
rs1341887132
596 A>T No ClinGen
TOPMed
gnomAD
CA1633224
rs755095463
597 L>F No ClinGen
ExAC
gnomAD
rs564201264
CA1633223
598 M>T No ClinGen
1000Genomes
ExAC
gnomAD
CA346656319
rs897621872
599 A>E No ClinGen
TOPMed
gnomAD
rs897621872
CA46430698
599 A>G No ClinGen
TOPMed
gnomAD
CA46430689
rs897621872
599 A>V No ClinGen
TOPMed
gnomAD
CA46430683
rs374757824
600 C>Y No ClinGen
ESP
rs766368134
CA1633222
602 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA346656303
rs1464543802
602 R>Q No ClinGen
gnomAD
CA1633221
rs760726810
603 I>V No ClinGen
ExAC
gnomAD
CA346656295
rs750310364
604 A>S No ClinGen
ExAC
TOPMed
gnomAD
rs750310364
CA1633220
604 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA46430671
rs774014733
605 R>G No ClinGen
Ensembl
CA346656283
rs1231976867
606 A>G No ClinGen
TOPMed
CA1633219
rs767341032
606 A>S No ClinGen
ExAC
gnomAD
CA346656271
rs761628561
607 H>P No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel
rs774085600
CA346656265
607 H>Q Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
gnomAD
NCI-TCGA
CA1633218
rs761628561
607 H>R No ClinGen
ExAC
TOPMed
gnomAD
rs768312640
CA1633216
608 G>R No ClinGen
ExAC
gnomAD
CA346656217
rs1180368689
610 L>F No ClinGen
gnomAD
rs1203746199
CA346656192
611 Q>H No ClinGen
TOPMed
gnomAD
CA1633214
rs775122260
614 T>A No ClinGen
ExAC
TOPMed
gnomAD
rs1272284995
CA346656150
614 T>N No ClinGen
TOPMed
gnomAD
CA46430652
rs775122260
614 T>P No ClinGen
ExAC
TOPMed
gnomAD
rs747591503
CA1633212
616 T>N No ClinGen
ExAC
gnomAD
rs377538801
CA346655983
621 V>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs377538801
CA1633209
621 V>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs374271718
CA1633208
622 S>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1445130599
CA346655953
622 S>F No ClinGen
gnomAD
rs755296990
CA346655924
CA1633207
623 D>E No ClinGen
ExAC
gnomAD
rs1407134171
CA346655908
624 A>G No ClinGen
TOPMed
gnomAD
rs749461706
CA1633206
624 A>T No ClinGen
ExAC
gnomAD
rs780233218
CA1633205
625 R>T No ClinGen
ExAC
gnomAD
rs1163128938
CA346655874
626 I>V No ClinGen
gnomAD
rs756120732
CA1633204
627 K>N No ClinGen
ExAC
TOPMed
gnomAD
rs540805240
CA1633203
631 I>N No ClinGen
1000Genomes
ExAC
gnomAD
rs1380898525
CA346655734
631 I>V No ClinGen
gnomAD
CA46430610
rs770796244
634 H>P No ClinGen
Ensembl
CA346655622
rs1437654206
636 Q>E No ClinGen
gnomAD
CA1633202
rs748989562
636 Q>R No ClinGen
ExAC
gnomAD
CA1633178
rs571141794
637 V>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA346653866
CA1633177
rs571141794
637 V>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs932145709
CA46430004
638 R>K No ClinGen
Ensembl
CA1633176
rs189025105
638 R>S No ClinGen
ExAC
gnomAD
CA346653826
rs1219301574
639 I>M No ClinGen
gnomAD
rs759196728
CA1633175
639 I>V No ClinGen
ExAC
gnomAD
CA46430000
rs563216907
641 T>I No ClinGen
Ensembl
CA1633174
rs776345411
642 L>S No ClinGen
ExAC
gnomAD
rs1342492199
CA346653785
642 L>V No ClinGen
gnomAD
CA346653760
rs1383014268
643 G>V No ClinGen
gnomAD
rs1344320065
CA346653749
644 L>S No ClinGen
gnomAD
CA1633171
rs774968041
646 C>F No ClinGen
ExAC
TOPMed
gnomAD
CA346653707
rs774968041
646 C>Y No ClinGen
ExAC
TOPMed
gnomAD
CA1633170
rs769166139
649 N>S No ClinGen
ExAC
TOPMed
gnomAD
rs138949612
CA1633168
650 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA1633169
rs201567258
650 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1263675746
CA346653608
651 S>C No ClinGen
TOPMed
rs769915625
CA1633167
651 S>R No ClinGen
ExAC
gnomAD
rs997539455
CA46429974
653 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
TCGA novel 653 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1425191244
CA346653542
654 I>M No ClinGen
gnomAD
CA46429970
rs374808545
656 S>A No ClinGen
ESP
TOPMed
gnomAD
CA1633166
rs527284143
656 S>C No ClinGen
1000Genomes
ExAC
gnomAD
CA1633165
rs527284143
656 S>F No ClinGen
1000Genomes
ExAC
gnomAD
CA346653492
rs1186949148
657 M>I No ClinGen
TOPMed
CA346653507
CA346653512
rs3752354
657 M>L Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
TOPMed
gnomAD
NCI-TCGA
CA1633164
rs3752354
657 M>V No ClinGen
ExAC
TOPMed
gnomAD
CA346653478
rs1212668234
658 E>G No ClinGen
TOPMed
gnomAD
rs1424814850
CA346653461
659 E>Q No ClinGen
TOPMed
rs747047689
CA1633163
660 M>V No ClinGen
ExAC
gnomAD
rs777593477
CA1633162
661 Q>R No ClinGen
ExAC
gnomAD
rs758297048
CA1633161
662 W>C No ClinGen
ExAC
gnomAD
rs752438267
CA346653356
CA1633160
664 Q>H No ClinGen
ExAC
gnomAD
CA1633159
rs372494428
COSM1229125
665 F>L large_intestine [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
CA1633158
rs754737388
666 F>L No ClinGen
ExAC
gnomAD
rs766028302
CA1633155
667 I>N No ClinGen
ExAC
gnomAD
rs753520598
CA1633157
667 I>V No ClinGen
ExAC
CA346653276
rs1558995585
668 T>I No ClinGen
Ensembl
rs1335958091
CA346653251
669 Y>* No ClinGen
TOPMed
gnomAD
CA346653266
rs764526891
669 Y>H No ClinGen
ExAC
gnomAD
CA1633151
rs764526891
669 Y>N No ClinGen
ExAC
gnomAD
COSM1632012
CA1633150
rs369364138
670 N>S liver [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
CA1633148
rs548205845
671 L>H No ClinGen
ExAC
TOPMed
gnomAD
rs190709877
CA346653227
671 L>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA1633149
rs190709877
671 L>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA1633147
rs188356382
672 N>T No ClinGen
ExAC
gnomAD
CA346653147
rs1414039792
673 S>R No ClinGen
TOPMed
gnomAD
rs776865876
CA1633146
674 Q>* No ClinGen
ExAC
gnomAD
CA1633145
rs541566460
674 Q>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA346653135
rs1287143437
674 Q>P No ClinGen
TOPMed
gnomAD
CA346653134
rs1287143437
674 Q>R No ClinGen
TOPMed
gnomAD
CA1633144
rs531379725
675 S>A No ClinGen
1000Genomes
ExAC
gnomAD
rs1321066204
CA346653101
676 P>A No ClinGen
TOPMed
rs777841362
CA1633143
677 G>R No ClinGen
ExAC
gnomAD
CA1633142
rs771968799
678 V>L No ClinGen
ExAC
gnomAD
rs778624548
CA346653022
679 R>P No ClinGen
ExAC
TOPMed
gnomAD
rs778624548
COSM3939096
CA1633140
679 R>Q oesophagus [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs748102303
CA1633141
679 R>W No ClinGen
ExAC
TOPMed
TCGA novel 681 Q>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA346652892
rs1380244876
683 C>S No ClinGen
gnomAD
rs1434270121
CA346652129
689 L>F No ClinGen
gnomAD
rs1427278517
CA346652127
690 F>I No ClinGen
TOPMed
gnomAD
rs1427278517
CA346652126
690 F>L No ClinGen
TOPMed
gnomAD
rs1490220948
CA346652114
691 C>F No ClinGen
gnomAD
CA346652116
rs1490220948
691 C>Y No ClinGen
gnomAD
rs1219108731
CA346652103
693 I>V No ClinGen
gnomAD
rs760945551
CA1633121
694 Q>* No ClinGen
ExAC
gnomAD
rs75542920
CA1633119
695 E>D No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs542005737
CA46428520
695 E>K No ClinGen
Ensembl
rs748077150
CA1633118
696 S>G No ClinGen
ExAC
gnomAD
CA1633117
rs774462807
696 S>N No ClinGen
ExAC
gnomAD
TCGA novel
rs768666108
CA1633116
696 S>R Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
gnomAD
NCI-TCGA
rs181621485
CA46428449
697 S>C No ClinGen
1000Genomes
TOPMed
CA346652051
rs181621485
697 S>F No ClinGen
1000Genomes
TOPMed
rs1221133740
CA346652042
698 Q>* No ClinGen
gnomAD
rs749112834
CA1633114
698 Q>H No ClinGen
ExAC
TOPMed
gnomAD
VAR_054071
CA1633113
rs17031056
699 V>I No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA346651989
rs1383186438
701 Y>C No ClinGen
gnomAD
TCGA novel 702 K>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA346651931
rs1288660629
704 E>G No ClinGen
gnomAD
rs554307239
CA1633110
CA346651907
705 Q>H No ClinGen
1000Genomes
ExAC
gnomAD
CA1633109
rs534132158
709 K>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs765743165
CA1633107
710 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA1633106
rs755411685
710 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA1633108
rs765743165
710 R>S No ClinGen
ExAC
TOPMed
gnomAD
CA346651820
rs1479062620
711 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs754267621
CA1633105
712 P>A No ClinGen
ExAC
TOPMed
gnomAD
CA1633103
rs760854371
713 E>D No ClinGen
ExAC
gnomAD
CA1633104
rs766715625
713 E>V No ClinGen
ExAC
gnomAD
CA46428378
rs867293035
714 N>I No ClinGen
Ensembl
CA346651782
rs1174701634
715 E>Q No ClinGen
TOPMed
rs370295558
CA1633101
717 T>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs761976499
CA1633100
717 T>S No ClinGen
ExAC
gnomAD
rs929268534
CA46428348
718 K>E No ClinGen
TOPMed
gnomAD
CA346651670
rs1392692777
720 H>R No ClinGen
TOPMed
rs1558992353
CA346651623
722 S>Y No ClinGen
Ensembl
CA1633096
rs769611674
724 S>F No ClinGen
ExAC
gnomAD
CA1633095
rs769611674
724 S>Y No ClinGen
ExAC
gnomAD
rs1396942461
CA346651545
726 Q>* No ClinGen
gnomAD
CA1633093
rs780917748
727 Q>R No ClinGen
ExAC
gnomAD
rs370630026
CA1633090
728 Y>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1633091
rs746532780
728 Y>H No ClinGen
ExAC
gnomAD
rs1172900232
CA346651493
729 K>E No ClinGen
gnomAD
rs755535860
CA346651485
729 K>N No ClinGen
ExAC
gnomAD
CA1633060
rs780635683
730 N>I No ClinGen
ExAC
TOPMed
gnomAD
CA346650908
rs780635683
730 N>S No ClinGen
ExAC
TOPMed
gnomAD
CA1633061
rs780635683
730 N>T No ClinGen
ExAC
TOPMed
gnomAD
rs1249225620
CA346650891
732 M>I No ClinGen
TOPMed
gnomAD
rs1328621554
CA346650897
732 M>L No ClinGen
gnomAD
rs1209992923
CA346650887
733 S>P No ClinGen
gnomAD
rs756521093
CA1633058
734 S>F No ClinGen
ExAC
gnomAD
rs1042940516
CA46425090
737 N>Y No ClinGen
TOPMed
COSM442915
CA346650852
rs1574289523
738 S>N breast [Cosmic] No ClinGen
cosmic curated
Ensembl
CA346650840
rs1466738554
740 F>L No ClinGen
gnomAD
CA346650836
rs1245020896
740 F>L No ClinGen
TOPMed
CA1633057
rs750805266
740 F>S No ClinGen
ExAC
gnomAD
CA346650832
rs1574289453
741 E>* No ClinGen
Ensembl
CA46425067
rs958694076
742 A>T No ClinGen
TOPMed
gnomAD
rs781409161
CA1633056
743 L>W No ClinGen
ExAC
TOPMed
gnomAD
CA46425049
rs1036099705
744 F>L No ClinGen
Ensembl
CA346650803
rs1237559083
745 P>L No ClinGen
gnomAD
CA1633054
rs751812633
746 G>A No ClinGen
ExAC
gnomAD
CA1633053
rs764313240
747 S>F No ClinGen
ExAC
gnomAD
CA346650795
rs1324288917
747 S>T No ClinGen
gnomAD
CA346650789
rs1302830465
748 S>Y No ClinGen
TOPMed
gnomAD
rs752764775
CA1633051
749 Y>C No ClinGen
ExAC
TOPMed
gnomAD
CA1633050
rs765220619
750 S>L No ClinGen
ExAC
TOPMed
gnomAD
CA1633049
rs759386085
752 R>I No ClinGen
ExAC
gnomAD
rs1363219410
CA346650758
753 F>Y No ClinGen
gnomAD
CA346650747
rs1394905972
755 A>P No ClinGen
TOPMed
CA1633048
rs776547228
759 L>S No ClinGen
ExAC
gnomAD
CA346650713
rs774680255
760 G>D No ClinGen
TOPMed
gnomAD
CA46424979
rs774680255
760 G>V No ClinGen
TOPMed
gnomAD
rs1266285359
CA346650707
761 S>* No ClinGen
gnomAD
rs1011721880
CA46424955
762 I>V No ClinGen
TOPMed
gnomAD
CA346650684
rs1574288990
764 E>K No ClinGen
Ensembl
rs1488795605
CA346650644
766 F>S No ClinGen
gnomAD
rs1286803488
CA346650618
767 H>Q No ClinGen
gnomAD
CA346650578
rs1350587402
770 E>A No ClinGen
gnomAD
rs1267243029
CA346650560
771 G>C No ClinGen
TOPMed
CA346647964
rs1304848023
771 G>D No ClinGen
gnomAD
rs1304848023
CA346647962
771 G>V No ClinGen
gnomAD
CA1632997
rs748503238
772 R>G No ClinGen
ExAC
gnomAD
rs761694190
CA46419674
772 R>T No ClinGen
TOPMed
gnomAD
rs779024965
CA1632996
774 Y>C No ClinGen
ExAC
TOPMed
gnomAD
rs779024965
CA346647945
774 Y>F No ClinGen
ExAC
TOPMed
gnomAD
rs1241924055
CA346647941
775 T>A No ClinGen
gnomAD
CA46419621
rs983169822
777 Y>F No ClinGen
Ensembl
CA346647916
rs756102827
778 Q>H No ClinGen
ExAC
TOPMed
gnomAD
CA346647907
rs1431571915
780 S>C No ClinGen
gnomAD
CA1632990
rs556481141
781 H>Y No ClinGen
1000Genomes
ExAC
gnomAD
rs1377211484
CA346647883
783 I>F No ClinGen
gnomAD
CA1632989
rs757035929
783 I>T No ClinGen
ExAC
TOPMed
gnomAD
CA346647885
rs1377211484
783 I>V No ClinGen
gnomAD
TCGA novel 784 D>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs751322993
CA1632988
785 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA46419545
rs902962513
786 G>R No ClinGen
TOPMed
CA346647828
rs1486748456
787 R>C No ClinGen
gnomAD
CA1632987
rs763097281
787 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA346647810
rs1208050582
788 F>C No ClinGen
gnomAD
CA346647796
rs1323545596
789 Q>* No ClinGen
gnomAD
CA346647779
rs1264461773
790 T>A No ClinGen
gnomAD
CA46419539
rs868682639
792 M>I No ClinGen
Ensembl
CA346647607
rs1221229517
792 M>T No ClinGen
TOPMed
gnomAD
rs752310981
CA1632985
793 E>G No ClinGen
ExAC
gnomAD
TCGA novel 793 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs185200412
CA1632984
797 S>N No ClinGen
ExAC
TOPMed
gnomAD
rs1574260439
CA346647556
799 F>Y No ClinGen
Ensembl
rs773886662
CA1632982
800 E>* No ClinGen
ExAC
gnomAD
CA1632980
rs774711325
801 D>E No ClinGen
ExAC
TOPMed
gnomAD
rs772657204
CA346647542
801 D>G No ClinGen
ExAC
gnomAD
CA1632981
rs772657204
801 D>V No ClinGen
ExAC
gnomAD
CA346647540
rs749514382
CA1632977
802 V>L No ClinGen
ExAC
TOPMed
gnomAD
CA1632978
rs749514382
802 V>M No ClinGen
ExAC
TOPMed
gnomAD
CA346647530
rs375611743
803 K>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA346647532
rs1453465936
803 K>R No ClinGen
gnomAD
CA1632975
rs769836348
804 I>V No ClinGen
ExAC
gnomAD
CA1632974
rs745912433
806 A>T No ClinGen
ExAC
gnomAD
TCGA novel 807 F>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs781133228
CA1632973
807 F>L No ClinGen
ExAC
gnomAD
rs773535783
CA1632969
808 D>E No ClinGen
ExAC
gnomAD
rs777608299
CA1632971
808 D>H No ClinGen
ExAC
TOPMed
gnomAD
CA1632972
rs777608299
808 D>N No ClinGen
ExAC
TOPMed
gnomAD
rs777608299
CA1632970
808 D>Y No ClinGen
ExAC
TOPMed
gnomAD
rs1187779088
CA346647499
809 L>I No ClinGen
gnomAD
rs78531159
CA46419444
810 L>M No ClinGen
gnomAD
rs1244957614
CA346647491
810 L>P No ClinGen
gnomAD
rs78531159
CA346647493
810 L>V No ClinGen
gnomAD
CA1632968
rs752366089
811 M>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1363486240
CA346647488
811 M>L No ClinGen
TOPMed
rs1363486240
CA346647489
811 M>V No ClinGen
TOPMed
CA1632967
rs764941109
812 K>Q No ClinGen
ExAC
gnomAD
rs1306070614
CA346647464
814 S>* No ClinGen
gnomAD
rs199529134
CA1632965
814 S>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA46419388
rs867172460
815 K>T No ClinGen
Ensembl
CA1632964
rs767915404
816 T>A No ClinGen
ExAC
TOPMed
gnomAD
rs1385587477
CA346647436
819 H>Y No ClinGen
gnomAD
CA346647430
rs369396814
820 F>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1632963
rs369396814
820 F>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs369396814
CA1632962
COSM3426465
820 F>V Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 821 Q>= Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA346647406
rs1349985479
822 D>N No ClinGen
gnomAD
CA210233
rs201555818
RCV000201417
823 S>L No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1347093309
CA346647386
825 K>E No ClinGen
gnomAD
rs1321337888
CA346647379
826 L>M No ClinGen
gnomAD
rs868641394
CA346647363
828 G>D No ClinGen
TOPMed
gnomAD
CA46416178
rs868641394
828 G>V No ClinGen
TOPMed
gnomAD
rs1237556719
CA346647344
831 Q>* No ClinGen
TOPMed
rs371803409
CA1632926
833 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs759791309
CA1632922
834 L>F No ClinGen
ExAC
gnomAD
CA1632924
rs376783414
834 L>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA346647326
rs1198572768
834 L>S No ClinGen
gnomAD
CA46416154
rs376783414
834 L>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1632921
rs374408400
836 L>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA346647315
rs374408400
836 L>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA346647306
rs1328507425
837 S>T No ClinGen
gnomAD
rs200865103
CA1632919
840 T>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1632918
rs535025800
840 T>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1019986897
CA46416111
841 K>E No ClinGen
Ensembl
rs772203027
CA1632917
841 K>R No ClinGen
ExAC
TOPMed
gnomAD
rs201048944
CA1632916
842 P>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs376123654
CA1632912
CA1632913
843 Y>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs769276846
CA1632911
844 D>N No ClinGen
ExAC
gnomAD
CA1632910
rs745390860
844 D>V No ClinGen
ExAC
gnomAD
rs1387902320
CA346647258
845 C>Y No ClinGen
gnomAD
TCGA novel 848 A>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1632908
rs374562090
849 S>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 850 Y>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1632906
rs370938864
851 L>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs370938864
CA46416082
851 L>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA346647175
rs1187157861
852 L>P No ClinGen
gnomAD
CA1632905
rs755356710
852 L>V No ClinGen
ExAC
gnomAD
CA346647169
rs1300630154
853 N>Y No ClinGen
TOPMed
rs1477420597
CA346647157
854 F>L No ClinGen
gnomAD
CA1632903
rs766628675
854 F>L No ClinGen
ExAC
gnomAD
TCGA novel 856 I>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs760803193
CA1632902
856 I>L No ClinGen
ExAC
gnomAD
CA346647126
rs1205622605
856 I>M No ClinGen
gnomAD
CA346647135
rs760803193
856 I>V No ClinGen
ExAC
gnomAD
CA1632901
rs767683104
857 W>G No ClinGen
ExAC
gnomAD
CA1632900
rs767683104
857 W>R No ClinGen
ExAC
gnomAD
rs774462938
CA1632898
859 D>G No ClinGen
ExAC
gnomAD
CA1632899
rs761883837
859 D>H No ClinGen
ExAC
gnomAD
rs1558965590
CA346647062
862 P>A No ClinGen
Ensembl
CA1632896
rs199616396
862 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1558965590
CA346647061
862 P>S No ClinGen
Ensembl
CA346647015
rs1454083087
866 S>F No ClinGen
TOPMed
gnomAD
rs373036685
CA1632895
866 S>P No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1454083087
CA346647019
866 S>Y No ClinGen
TOPMed
gnomAD
rs775083977
CA1632894
867 A>V No ClinGen
ExAC
gnomAD
CA1632892
rs780717880
868 Y>C No ClinGen
ExAC
TOPMed
gnomAD
rs780717880
CA1632891
868 Y>S No ClinGen
ExAC
TOPMed
gnomAD
rs982811795
CA46415956
870 T>I No ClinGen
Ensembl
rs920443033
CA46415951
871 Q>R No ClinGen
TOPMed
rs746470079
CA46415940
873 V>A No ClinGen
ExAC
gnomAD
rs746470079
CA1632889
873 V>D No ClinGen
ExAC
gnomAD
CA1632888
rs528934509
874 A>T No ClinGen
1000Genomes
ExAC
gnomAD
rs1236975924
CA346646900
876 D>G No ClinGen
gnomAD
rs1266198923
CA346646863
879 D>N No ClinGen
TOPMed
gnomAD
CA346646848
rs753917327
880 R>K No ClinGen
TOPMed
gnomAD
CA346646841
rs780267647
880 R>S No ClinGen
ExAC
gnomAD
rs753917327
CA46415919
880 R>T No ClinGen
TOPMed
gnomAD
CA1632884
rs141548771
881 P>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA46415900
rs764099829
884 V>M No ClinGen
Ensembl
CA1632882
rs767809836
887 R>G No ClinGen
ExAC
gnomAD
TCGA novel 888 N>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1632881
rs760381683
888 N>S No ClinGen
ExAC
gnomAD
rs772738489
CA1632880
890 L>S No ClinGen
ExAC
gnomAD
rs758397403
CA1632861
892 V>A No ClinGen
ExAC
gnomAD
rs764135639
CA1632879
892 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs567039407
CA1632860
893 I>T No ClinGen
1000Genomes
ExAC
gnomAD
CA346645975
rs1428539415
893 I>V No ClinGen
Ensembl
CA1632859
rs372737774
894 K>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs759261024
CA346645930
895 C>W No ClinGen
ExAC
TOPMed
gnomAD
CA346645937
rs1181647433
COSM1021006
895 C>Y Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
CA346645903
rs1574223792
897 M>L No ClinGen
Ensembl
rs766085265
CA1632856
899 N>K No ClinGen
ExAC
TOPMed
gnomAD
CA1632857
rs776339335
899 N>S No ClinGen
ExAC
gnomAD
rs144484852
CA1632855
900 L>F No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA346645844
rs1246018460
901 E>K No ClinGen
gnomAD
CA346645797
rs1330518604
903 E>D No ClinGen
gnomAD
rs1197458739
CA346645792
904 V>L No ClinGen
TOPMed
gnomAD
CA346645753
rs768467150
906 Q>H No ClinGen
TOPMed
gnomAD
rs1260528811
CA346645747
907 A>T No ClinGen
gnomAD
rs1199867860
CA346645740
907 A>V No ClinGen
gnomAD
CA346645738
rs1558958535
COSM1021005
908 E>K Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
Ensembl
NCI-TCGA
CA46412654
rs1052367886
910 S>F Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs530439626
CA1632853
912 L>P No ClinGen
1000Genomes
ExAC
gnomAD
rs747656721
CA346645652
914 A>P No ClinGen
ExAC
TOPMed
gnomAD
CA346645654
rs747656721
914 A>S No ClinGen
ExAC
TOPMed
gnomAD
CA1632852
rs747656721
914 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs770280848
CA1632850
916 A>E No ClinGen
ExAC
gnomAD
CA46412632
rs775885637
916 A>P No ClinGen
ExAC
TOPMed
gnomAD
rs775885637
CA1632851
916 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA46412628
rs972529472
917 A>T No ClinGen
Ensembl
rs961192723
CA46412626
917 A>V No ClinGen
TOPMed
CA346645588
rs1433509356
919 P>L No ClinGen
gnomAD
CA1632847
rs757615234
920 M>T No ClinGen
ExAC
TOPMed
gnomAD
rs781689937
CA1632848
920 M>V No ClinGen
ExAC
gnomAD
CA1632846
rs377003542
921 Y>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
COSM575302
rs1174263513
CA346645546
923 R>* lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
CA1632845
rs372826539
923 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA1632844
rs139831932
924 V>F No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1466186796
CA346645520
925 H>P No ClinGen
gnomAD
CA346645522
rs1482680004
925 H>Y No ClinGen
TOPMed
rs1574223230
CA346645495
927 I>V No ClinGen
Ensembl
rs550605047
CA1632840
929 G>E No ClinGen
1000Genomes
ExAC
gnomAD
rs765089024
CA1632841
929 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs747179151
CA46412610
930 A>D No ClinGen
ExAC
TOPMed
gnomAD
rs747179151
CA1632839
930 A>G No ClinGen
ExAC
TOPMed
gnomAD
CA346645413
rs1170915198
935 S>C No ClinGen
TOPMed
TCGA novel 935 S>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs766140153
CA1632838
935 S>P No ClinGen
ExAC
TOPMed
gnomAD
rs1296735987
CA346645410
936 L>V No ClinGen
TOPMed
gnomAD
rs779926699
CA346645384
937 N>K No ClinGen
ExAC
TOPMed
gnomAD
CA1632820
rs755926909
938 S>C No ClinGen
ExAC
gnomAD
rs750176984
CA1632819
938 S>R No ClinGen
ExAC
TOPMed
gnomAD
rs1352223554
CA346645359
941 L>F No ClinGen
TOPMed
rs1482247411
CA346645340
944 E>G No ClinGen
gnomAD
rs751092248
CA1632816
944 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs975116508
CA46412377
945 W>* No ClinGen
TOPMed
CA1632815
rs763641575
946 R>S No ClinGen
ExAC
gnomAD
rs999717846
CA46412366
947 P>L No ClinGen
Ensembl
CA1632814
rs374786657
947 P>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1632813
rs777296013
948 V>A No ClinGen
ExAC
gnomAD
rs1244103874
CA346645309
949 V>A No ClinGen
gnomAD
CA1632812
rs771503796
951 K>E No ClinGen
ExAC
TOPMed
gnomAD
rs1350175153
CA346645283
953 L>H No ClinGen
gnomAD
CA346645279
rs1574221078
954 L>V No ClinGen
Ensembl
CA1632810
rs773619853
955 M>I No ClinGen
ExAC
gnomAD
CA1632809
rs191114638
957 Y>* No ClinGen
1000Genomes
ExAC
gnomAD
rs748378604
CA346645251
958 R>G No ClinGen
ExAC
gnomAD
CA1632807
rs778900232
958 R>M No ClinGen
ExAC
gnomAD
rs201907462
CA1632806
958 R>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA346645246
rs749318195
959 L>I No ClinGen
ExAC
TOPMed
gnomAD
CA1632805
rs749318195
959 L>V No ClinGen
ExAC
TOPMed
gnomAD
CA1632804
rs779981719
962 V>M No ClinGen
ExAC
gnomAD
TCGA novel 963 V>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1177681931
CA346645212
965 P>A No ClinGen
TOPMed
gnomAD
rs200421679
CA1632803
965 P>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1177681931
CA346645211
965 P>S No ClinGen
TOPMed
gnomAD
rs1453715252
CA346645194
968 Q>E No ClinGen
TOPMed
gnomAD
rs781034188
CA1632801
968 Q>H No ClinGen
ExAC
TOPMed
gnomAD
CA346645175
rs1209782572
970 S>L No ClinGen
gnomAD
rs756896707
CA346645170
971 S>F No ClinGen
ExAC
TOPMed
gnomAD
rs756896707
CA1632800
971 S>Y No ClinGen
ExAC
TOPMed
gnomAD
CA346645168
rs1270088453
972 P>A No ClinGen
TOPMed
gnomAD
CA346645167
rs1270088453
972 P>S No ClinGen
TOPMed
gnomAD
CA346645150
rs1328728107
974 G>D No ClinGen
TOPMed
gnomAD
CA346645147
rs1427583935
975 L>F No ClinGen
TOPMed
rs1442292133
CA346645145
975 L>P No ClinGen
gnomAD
CA346645148
rs1427583935
975 L>V No ClinGen
TOPMed
rs763804030
CA1632798
977 P>L No ClinGen
ExAC
gnomAD
rs371128693
CA1632797
978 M>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs767053473
CA1632795
980 T>A No ClinGen
ExAC
TOPMed
gnomAD
CA346645111
rs1558957104
980 T>I No ClinGen
Ensembl
rs767053473
CA346645115
980 T>P No ClinGen
ExAC
TOPMed
gnomAD
CA1632774
rs762241997
985 A>T No ClinGen
ExAC
gnomAD
CA346644915
rs1240895196
985 A>V No ClinGen
TOPMed
rs774639275
CA1632773
986 S>G No ClinGen
ExAC
gnomAD
rs1477190015
CA346644908
986 S>T No ClinGen
TOPMed
CA1632771
rs370549487
987 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1632770
rs566178801
987 R>H No ClinGen
1000Genomes
ExAC
gnomAD
rs1364452484
CA346644864
989 Q>H No ClinGen
gnomAD
CA1632768
rs745882269
989 Q>R No ClinGen
ExAC
gnomAD
rs1284263469
CA346644837
991 I>T No ClinGen
gnomAD
rs374121530
CA1632767
992 L>V No ClinGen
ESP
ExAC
gnomAD
CA1632766
rs770719789
994 E>D No ClinGen
ExAC
gnomAD
rs1430750037
CA346644784
996 Q>* No ClinGen
gnomAD
rs1162302858
CA346644779
996 Q>R No ClinGen
TOPMed
CA346644759
rs143275203
998 R>* No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA1632765
rs143275203
998 R>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA46410766
rs777708794
998 R>P No ClinGen
ExAC
TOPMed
gnomAD
rs777708794
CA1632764
998 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1183638777
CA346644734
1000 T>A No ClinGen
TOPMed
gnomAD
CA1632762
rs747782417
1002 D>G No ClinGen
ExAC
gnomAD
rs1381795744
CA346644706
1002 D>N No ClinGen
TOPMed
gnomAD
CA346644663
rs879530844
1005 N>D No ClinGen
gnomAD
CA46410761
rs879530844
1005 N>H No ClinGen
gnomAD
rs572416336
CA1632761
1005 N>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA46410760
rs754547792
1006 Q>* No ClinGen
ExAC
gnomAD
CA1632760
rs754547792
1006 Q>E No ClinGen
ExAC
gnomAD
rs1276505306
CA346644649
1006 Q>R No ClinGen
gnomAD
CA1632758
rs187866390
1007 A>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs753219365
CA1632759
1007 A>P No ClinGen
ExAC
TOPMed
gnomAD
rs757691193
CA1632757
1009 I>T No ClinGen
ExAC
gnomAD
rs751985267
CA1632756
1011 K>R No ClinGen
ExAC
gnomAD
rs1030192840
CA346644573
1013 H>D No ClinGen
TOPMed
gnomAD
rs763207278
CA1632754
1013 H>R No ClinGen
ExAC
TOPMed
gnomAD
rs1030192840
CA46410751
1013 H>Y No ClinGen
TOPMed
gnomAD
CA346644568
rs1352023991
1014 D>N No ClinGen
gnomAD
CA346644551
rs1258940137
1016 F>L No ClinGen
TOPMed
CA346644538
rs376733510
1017 D>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs370100401
CA1632753
1017 D>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA346644542
rs1306551865
1017 D>Y No ClinGen
gnomAD
CA346644533
rs1413169687
1018 M>I No ClinGen
gnomAD
CA1632751
rs759677901
1018 M>T No ClinGen
ExAC
TOPMed
gnomAD
CA46410717
rs373308167
1018 M>V No ClinGen
ESP
TOPMed
gnomAD
rs575711817
CA46410709
1021 L>F No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs535126397
CA1632750
1021 L>S No ClinGen
1000Genomes
ExAC
gnomAD
rs373096415
CA1632748
1022 N>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs773191166
CA1632747
1023 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs1247166376
CA346644472
1024 S>G No ClinGen
gnomAD
rs1223696370
CA346644468
1024 S>N No ClinGen
gnomAD
rs1271987651
CA346644458
1025 V>M No ClinGen
gnomAD
rs751714783
CA46410687
1026 V>M No ClinGen
Ensembl
CA346644435
rs1175453293
1027 N>H No ClinGen
TOPMed
CA46410676
rs944633421
1028 I>T No ClinGen
TOPMed
gnomAD
rs1286101983
CA346644404
1029 D>G No ClinGen
gnomAD
CA346644392
rs772014934
1030 T>I No ClinGen
ExAC
gnomAD
rs772014934
CA1632746
1030 T>S No ClinGen
ExAC
gnomAD
CA46410656
rs911701393
1031 S>C No ClinGen
TOPMed
gnomAD
rs911701393
CA346644385
1031 S>F No ClinGen
TOPMed
gnomAD
CA1632744
rs778711650
1032 T>I No ClinGen
ExAC
gnomAD
CA346644372
rs778711650
1032 T>R No ClinGen
ExAC
gnomAD
CA46410647
rs868545665
1033 E>* No ClinGen
gnomAD
rs868545665
CA346644366
1033 E>K No ClinGen
gnomAD
rs1336625796
CA346644340
1034 I>M No ClinGen
TOPMed
CA1632711
rs189409390
1036 G>V No ClinGen
ExAC
TOPMed
gnomAD
CA1632709
rs745338386
1039 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs778270347
CA1632707
1042 C>W No ClinGen
ExAC
TOPMed
gnomAD
rs758896058
CA1632706
1043 D>N No ClinGen
ExAC
gnomAD
rs967271301
CA46401371
1044 V>A No ClinGen
Ensembl
rs1381582880
CA346643461
1045 T>N No ClinGen
gnomAD
CA346643455
rs1464303021
1046 A>T No ClinGen
gnomAD
rs375558518
CA1632704
1046 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1431534932
CA346643420
1047 Q>H No ClinGen
gnomAD
CA1632702
rs754031403
1048 M>I No ClinGen
ExAC
gnomAD
rs1388299760
CA346643416
1048 M>V No ClinGen
gnomAD
rs766584038
CA1632701
1049 V>L No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 1050 L>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1632700
rs756266909
1050 L>P No ClinGen
ExAC
gnomAD
CA46401322
rs1009680633
1052 C>Y Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
CA346643324
rs1207814152
1053 C>S No ClinGen
gnomAD
rs958014857
CA46401316
1053 C>Y No ClinGen
Ensembl
rs1221169976
CA346643295
1054 W>S No ClinGen
gnomAD
rs1574158487
CA346643270
1056 S>G No ClinGen
Ensembl
CA1632697
rs761836630
1056 S>N No ClinGen
ExAC
gnomAD
CA1632695
rs763771797
1057 M>I No ClinGen
ExAC
gnomAD
rs1410782522
CA346643239
1057 M>R No ClinGen
TOPMed
rs774239908
CA1632696
1057 M>V No ClinGen
ExAC
gnomAD
rs1558937770
CA346643225
1058 K>* No ClinGen
Ensembl
rs1310760511
CA346643216
1058 K>T No ClinGen
gnomAD
CA346643188
rs1414387585
1060 V>I No ClinGen
gnomAD
rs1308377552
CA346643155
1062 L>I No ClinGen
TOPMed
gnomAD
CA1632692
rs769365845
1063 L>F No ClinGen
ExAC
gnomAD
rs745444696
CA1632691
1064 L>F No ClinGen
ExAC
rs367773429
CA46401280
1065 G>D No ClinGen
ESP
TOPMed
gnomAD
CA1632689
CA346643071
rs772609291
1066 M>I No ClinGen
ExAC
gnomAD
CA1632688
rs748583935
1067 L>F No ClinGen
ExAC
gnomAD
rs779428347
CA1632687
1068 C>Y No ClinGen
ExAC
gnomAD
rs1558937625
CA346643015
1069 Q>H No ClinGen
Ensembl
CA46401269
rs374772675
1069 Q>R No ClinGen
ESP
TOPMed
gnomAD
rs1337420104
CA346643012
1070 L>I No ClinGen
TOPMed
TCGA novel 1071 L>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA346642978
rs1482289203
1072 P>A No ClinGen
gnomAD
CA1632683
rs200340060
1073 M>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA46401254
rs906509321
1073 M>R No ClinGen
TOPMed
gnomAD
rs201189013
CA1632684
COSM1021001
1073 M>V endometrium [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs756391218
CA1632682
1074 Q>* No ClinGen
ExAC
gnomAD
CA46401231
rs899363165
1074 Q>H No ClinGen
TOPMed
gnomAD
CA1632681
rs202099412
1074 Q>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs202099412
CA346642933
1074 Q>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1046784502
CA46401228
1075 P>S No ClinGen
gnomAD
CA46401225
rs1037832101
1076 V>L No ClinGen
TOPMed
CA346642892
rs767672564
1077 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs767672564
CA1632680
1077 P>T No ClinGen
ExAC
TOPMed
gnomAD
CA1632679
rs188031118
1078 E>K No ClinGen
ExAC
gnomAD
CA1632678
rs751470684
1079 S>Y No ClinGen
ExAC
gnomAD
CA346642840
rs1439999304
1080 S>C No ClinGen
TOPMed
CA346642823
rs1387263033
1081 D>G No ClinGen
gnomAD
rs376664357
CA346642804
1082 G>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs376664357
CA1632676
1082 G>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 1084 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs190742439
CA1632674
1085 T>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs910812116
CA46401182
1086 V>M No ClinGen
TOPMed
gnomAD
CA346642729
rs1465385865
1087 E>D No ClinGen
TOPMed
CA1632672
rs776170716
1087 E>Q No ClinGen
ExAC
gnomAD
CA346640688
rs1471935081
1089 V>I No ClinGen
TOPMed
TCGA novel 1091 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1392612425
CA346640628
1092 I>T No ClinGen
gnomAD
rs777882161
CA1632638
1092 I>V No ClinGen
ExAC
gnomAD
rs1027463026
CA46393171
1093 G>R No ClinGen
TOPMed
rs1558915133
CA346640601
1094 D>G No ClinGen
Ensembl
rs1467094007
CA346640579
1095 Y>* No ClinGen
TOPMed
rs758319003
CA1632636
1095 Y>S No ClinGen
ExAC
TOPMed
CA346640575
rs1170469665
1096 F>I No ClinGen
TOPMed
CA346640570
rs1475137183
1096 F>S No ClinGen
gnomAD
CA1632635
rs752656191
1098 Q>H No ClinGen
ExAC
TOPMed
gnomAD
CA346640500
rs1189879719
1099 H>Q No ClinGen
gnomAD
CA1632633
rs754774902
1100 L>F No ClinGen
ExAC
gnomAD
CA1632634
rs754774902
1100 L>V No ClinGen
ExAC
gnomAD
rs1309689196
CA346640461
1101 L>S No ClinGen
TOPMed
CA1632632
rs753572714
1102 Q>* No ClinGen
ExAC
gnomAD
rs1348377486
CA346640412
1103 S>C No ClinGen
TOPMed
rs760370114
CA1632630
1104 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs1276719116
CA346640363
1106 R>G No ClinGen
gnomAD
rs1212258032
CA346640341
1106 R>S No ClinGen
gnomAD
rs375472884
CA1632629
1107 G>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs767029413
CA346640321
1108 A>E No ClinGen
ExAC
TOPMed
gnomAD
rs1002869906
CA46393121
1108 A>S No ClinGen
TOPMed
gnomAD
CA1632628
rs767029413
1108 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA1632626
rs776168358
1110 E>G No ClinGen
ExAC
CA346640180
rs1372892546
1114 T>I No ClinGen
gnomAD
CA346640116
rs1218429057
1117 V>L No ClinGen
gnomAD
rs759988302
CA1632624
1118 K>N No ClinGen
ExAC
TOPMed
gnomAD
CA346640066
rs1409378092
1119 L>F No ClinGen
gnomAD
CA1632622
rs771102193
1121 E>D No ClinGen
ExAC
gnomAD
CA1632623
rs777118298
1121 E>G No ClinGen
ExAC
gnomAD
rs773260735
CA1632620
1124 N>D No ClinGen
ExAC
gnomAD
CA46927318
rs1046670247
1125 R>S No ClinGen
Ensembl
rs1277153456
CA346796987
1126 C>S No ClinGen
gnomAD
CA1632596
rs779807334
1129 V>M No ClinGen
ExAC
gnomAD
CA1632595
rs755968207
1135 P>R No ClinGen
ExAC
gnomAD
rs745579683
CA1632594
1136 E>Q No ClinGen
ExAC
gnomAD
rs780907489
CA1632593
1136 E>V No ClinGen
ExAC
gnomAD
CA46927317
rs774810006
1137 Q>R No ClinGen
Ensembl
CA346796906
rs1156639172
1138 W>* No ClinGen
gnomAD
CA346796893
rs1180601043
1140 W>* No ClinGen
gnomAD
CA346796892
rs1195427191
1140 W>* No ClinGen
gnomAD
rs1425733584
CA346796897
1140 W>R No ClinGen
gnomAD
CA46927316
rs76054577
1141 S>G No ClinGen
Ensembl
TCGA novel 1141 S>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs751178725
CA1632591
1141 S>R No ClinGen
ExAC
TOPMed
gnomAD
CA346796874
rs1251815772
1143 L>S No ClinGen
gnomAD
CA46927315
rs1053152577
1147 K>I No ClinGen
Ensembl
CA346796837
rs1215474172
1148 C>Y No ClinGen
gnomAD
CA346796829
rs1181471851
1149 S>N No ClinGen
TOPMed
CA1632588
rs754404966
1150 D>N No ClinGen
ExAC
gnomAD
CA1632587
rs766732650
1151 P>R No ClinGen
ExAC
TOPMed
gnomAD
rs767305014
CA346796816
1151 P>S No ClinGen
TOPMed
gnomAD
rs767305014
CA46927314
1151 P>T No ClinGen
TOPMed
gnomAD
CA1632584
rs767796761
1153 S>C No ClinGen
ExAC
gnomAD
rs572395673
CA46927313
1154 K>E No ClinGen
ExAC
gnomAD
CA1632583
rs572395673
1154 K>Q No ClinGen
ExAC
gnomAD
rs375959741
CA1632580
1157 A>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs199669113
CA1632579
1158 T>A No ClinGen
1000Genomes
ExAC
gnomAD
CA346796769
rs1394459166
1159 R>T No ClinGen
gnomAD
CA1632577
rs745729441
1160 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA1632576
rs745729441
1160 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs770743595
CA346796752
1162 A>S No ClinGen
ExAC
TOPMed
gnomAD
rs770743595
CA1632574
1162 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA46927312
rs925987619
1163 G>* No ClinGen
gnomAD
CA46927311
rs746685339
1163 G>A No ClinGen
ExAC
TOPMed
gnomAD
CA1632573
rs746685339
1163 G>E No ClinGen
ExAC
TOPMed
gnomAD
rs925987619
CA346796748
1163 G>R No ClinGen
gnomAD
rs866355500
CA46927310
1165 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
rs777531225
CA1632572
1166 F>C No ClinGen
ExAC
gnomAD
CA1632570
rs752090937
1168 I>L No ClinGen
ExAC
TOPMed
gnomAD
CA346796718
rs752090937
1168 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs780668726
CA1632569
1169 Q>R No ClinGen
ExAC
gnomAD
CA46926917
rs936125874
1170 A>T No ClinGen
TOPMed
gnomAD
rs1307516986
CA346796688
1170 A>V No ClinGen
gnomAD
rs1297083091
CA346796671
1173 A>G No ClinGen
gnomAD
rs756694917
CA1632551
1174 S>C No ClinGen
ExAC
gnomAD
rs1035492787
CA46926916
1175 E>* No ClinGen
TOPMed
CA46926915
rs774623519
1176 P>S No ClinGen
TOPMed
gnomAD
rs1475049735
CA346796633
1179 G>D No ClinGen
TOPMed
gnomAD
CA346796635
rs1381925190
1179 G>R No ClinGen
TOPMed
CA346796626
rs1184503236
1180 R>K No ClinGen
gnomAD
rs950252749
CA46926913
1181 M>I No ClinGen
TOPMed
rs757622946
CA1632548
1181 M>V No ClinGen
ExAC
gnomAD
rs972860825
CA46926911
1182 D>G No ClinGen
TOPMed
CA346796615
rs917506225
1182 D>N No ClinGen
TOPMed
gnomAD
CA46926912
rs917506225
1182 D>Y No ClinGen
TOPMed
gnomAD
CA346796587
rs1210469367
1186 I>V No ClinGen
TOPMed
gnomAD
rs7578597
VAR_054072
CA1632546
1187 T>A No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs764354021
CA1632545
1187 T>I No ClinGen
ExAC
rs1271446013
CA346796560
1190 E>K No ClinGen
gnomAD
rs1330156923
CA346796540
1192 I>M No ClinGen
gnomAD
rs763077417
CA1632544
1192 I>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA346796526
rs1279891208
1195 A>T No ClinGen
gnomAD
CA46926910
rs910077873
1196 G>R No ClinGen
TOPMed
CA1632540
rs776717012
1198 T>I No ClinGen
ExAC
TOPMed
gnomAD
CA346796504
rs1440917469
1199 D>N No ClinGen
gnomAD
rs766364697
CA1632539
1200 D>G Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA46926909
rs749601221
1201 I>L No ClinGen
ExAC
TOPMed
gnomAD
rs749601221
CA1632537
1201 I>V No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 1202 Q>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs376577667
CA46926908
1202 Q>R No ClinGen
ESP
TOPMed
gnomAD
CA1632536
rs771799454
1204 T>A No ClinGen
ExAC
gnomAD
CA46926906
rs893842463
1206 P>S No ClinGen
TOPMed
gnomAD
CA346796423
rs1191321773
1209 H>R No ClinGen
gnomAD
CA346796401
rs1333442088
1212 N>S No ClinGen
TOPMed
CA346796392
rs1260767989
1213 I>S No ClinGen
gnomAD
CA46925950
rs1016915211
1216 A>V No ClinGen
gnomAD
rs1278129279
CA346796366
1217 L>F No ClinGen
gnomAD
rs1005992799
CA46925949
1219 R>T No ClinGen
Ensembl
CA1632522
rs763566405
1221 T>K No ClinGen
ExAC
TOPMed
gnomAD
CA1632521
rs763566405
1221 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA346796340
rs763566405
1221 T>R No ClinGen
ExAC
TOPMed
gnomAD
rs569500735
CA1632519
1222 R>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs199598541
CA1632518
1222 R>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA346796331
rs1300334091
1223 L>R No ClinGen
gnomAD
rs773877085
CA1632515
1224 G>E No ClinGen
ExAC
gnomAD
CA1632517
rs761627286
CA1632516
1224 G>R No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 1225 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA346796315
rs1417035743
1226 N>S No ClinGen
gnomAD
CA1632513
rs748853427
1228 I>M No ClinGen
ExAC
TOPMed
gnomAD
CA1632512
rs774972640
1229 P>S Variant assessed as Somatic; 4.688e-05 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs771463563
CA1632511
1231 V>A No ClinGen
ExAC
gnomAD
rs1378431875
CA346796283
1231 V>F No ClinGen
TOPMed
rs752399254
CA1632510
1233 D>N No ClinGen
ExAC
TOPMed
gnomAD
rs1418908095
CA346796270
1233 D>V No ClinGen
TOPMed
gnomAD
CA1632509
CA346796267
rs778200995
1234 G>R No ClinGen
ExAC
gnomAD
rs904296760
CA46925948
1234 G>V No ClinGen
Ensembl
CA1632508
rs758697239
1235 A>T No ClinGen
ExAC
gnomAD
rs748490679
CA1632507
1237 A>S No ClinGen
ExAC
TOPMed
gnomAD
rs145039246
CA1632506
1237 A>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs766547348
CA1632503
1239 I>F No ClinGen
ExAC
gnomAD
rs766547348
CA1632504
1239 I>V No ClinGen
ExAC
gnomAD
CA346796211
rs1188391024
1243 T>I No ClinGen
gnomAD
rs377547583
CA1632501
1245 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1632499
rs761525665
1246 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA1632498
rs751355658
1247 W>* No ClinGen
ExAC
gnomAD
CA346796181
rs1293121476
1248 A>V No ClinGen
TOPMed
gnomAD
rs763922768
CA1632478
1249 V>E No ClinGen
ExAC
gnomAD
rs762684727
CA346796163
1250 R>* No ClinGen
ExAC
TOPMed
gnomAD
rs376131661
CA1632476
1250 R>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs376131661
CA1632475
1250 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA346796147
rs1253075016
1252 S>L No ClinGen
gnomAD
rs992431859
CA46924228
1253 S>Y No ClinGen
TOPMed
gnomAD
rs1216898715
CA346796137
1254 T>I No ClinGen
gnomAD
rs1460983860
CA346796133
1255 L>F No ClinGen
TOPMed
rs772499337
CA1632472
1256 L>V No ClinGen
ExAC
gnomAD
rs774673118
CA346796108
1259 A>P No ClinGen
ExAC
gnomAD
CA1632471
rs774673118
1259 A>S No ClinGen
ExAC
gnomAD
CA1632470
rs774673118
1259 A>T No ClinGen
ExAC
gnomAD
rs769176976
CA346796099
CA1632469
1260 L>F No ClinGen
ExAC
gnomAD
rs749595373
CA1632468
1261 I>F No ClinGen
ExAC
gnomAD
CA346796091
rs1438832390
1262 T>A No ClinGen
TOPMed
gnomAD
CA1632467
rs780436335
1265 F>S No ClinGen
ExAC
gnomAD
rs770126262
CA1632466
1266 G>R No ClinGen
ExAC
gnomAD
CA346796058
rs1325199473
1267 V>F No ClinGen
TOPMed
CA346796055
rs1558837118
1267 V>G No ClinGen
Ensembl
TCGA novel 1269 R>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs374571276
CA1632464
1270 A>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs757187195
CA1632463
1270 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA1632462
rs751535268
1271 K>E No ClinGen
ExAC
gnomAD
rs777645816
CA346796025
1272 D>A No ClinGen
ExAC
TOPMed
gnomAD
rs777645816
CA1632461
1272 D>G No ClinGen
ExAC
TOPMed
gnomAD
rs1174916300
CA346796018
1273 E>A No ClinGen
gnomAD
rs1423945435
CA346796009
1274 H>R No ClinGen
gnomAD
CA346796011
rs1266316090
1274 H>Y No ClinGen
TOPMed
gnomAD
TCGA novel 1277 T>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA346795986
rs1186731982
1277 T>I No ClinGen
gnomAD
TCGA novel 1279 R>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA46924226
rs1026770658
1279 R>K No ClinGen
TOPMed
gnomAD
CA346795958
rs1330175259
1279 R>S No ClinGen
gnomAD
CA46916871
rs368185063
1280 M>V No ClinGen
Ensembl
CA1632435
rs778660975
1281 T>A No ClinGen
ExAC
gnomAD
CA346795945
rs1573605329
1281 T>R No ClinGen
Ensembl
rs765881990
CA1632432
1287 S>F No ClinGen
ExAC
TOPMed
gnomAD
rs755661231
CA1632431
1288 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs749886006
CA1632430
1288 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA346795899
rs749886006
1288 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA46916870
rs951712522
1290 P>R No ClinGen
TOPMed
CA346795887
rs1417911685
1290 P>S No ClinGen
gnomAD
rs370950660
CA1632429
1291 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA46916869
rs375764341
1292 L>P No ClinGen
ESP
CA346795876
rs1251406541
1292 L>V No ClinGen
gnomAD
CA346795868
rs1207781995
1293 Y>C No ClinGen
TOPMed
gnomAD
CA346795869
rs1207781995
1293 Y>S No ClinGen
TOPMed
gnomAD
rs776041607
CA46916868
1294 P>H No ClinGen
ExAC
gnomAD
CA1632427
rs776041607
1294 P>L No ClinGen
ExAC
gnomAD
CA346795862
rs776041607
1294 P>R No ClinGen
ExAC
gnomAD
CA1632428
rs763522533
1294 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs1223157155
CA346795852
1296 L>V No ClinGen
TOPMed
CA346795845
rs1241096347
1297 L>F No ClinGen
TOPMed
gnomAD
CA346795847
rs1241096347
1297 L>V No ClinGen
TOPMed
gnomAD
CA346795827
CA1632426
rs758123298
1299 Q>H No ClinGen
ExAC
TOPMed
gnomAD
CA46916866
rs34612589
1300 L>V No ClinGen
ExAC
TOPMed
gnomAD
rs74537080
CA46916865
1301 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
rs776914206
CA346795807
1303 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs776914206
CA1632424
1303 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs1321181517
CA346795797
1304 A>V No ClinGen
gnomAD
CA1632423
rs771047180
1306 T>I No ClinGen
ExAC
gnomAD
rs1291065504
CA346795783
1307 V>I No ClinGen
gnomAD
rs1425258853
CA346795771
1308 D>E No ClinGen
TOPMed
CA46916863
rs1005007701
1309 S>R No ClinGen
gnomAD
CA346795737
rs1195520135
1311 M>T No ClinGen
gnomAD
rs373241931
CA1632414
1311 M>V No ClinGen
ESP
ExAC
gnomAD
rs1301478927
CA346795733
1312 G>R No ClinGen
TOPMed
rs749992686
CA1632413
1313 E>A No ClinGen
ExAC
gnomAD
rs756773881
CA1632411
1314 P>R No ClinGen
ExAC
TOPMed
gnomAD
CA1632412
rs780826956
1314 P>S No ClinGen
ExAC
gnomAD
rs753284105
CA1632410
1316 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs753284105
CA346795707
1316 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA1632408
rs200421057
1316 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA1632409
rs200421057
1316 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs1199412028
CA346795700
1317 H>L No ClinGen
TOPMed
gnomAD
rs1199412028
CA346795701
1317 H>R No ClinGen
TOPMed
gnomAD
CA346795695
rs1339614664
1318 P>S No ClinGen
TOPMed
gnomAD
rs750011789
CA46916603
1319 S>C No ClinGen
TOPMed
CA346795690
rs750011789
1319 S>G No ClinGen
TOPMed
CA46916602
rs935610225
1319 S>N No ClinGen
TOPMed
rs754152083
CA1632407
1320 M>L No ClinGen
ExAC
gnomAD
rs1573594516
CA346795683
1320 M>T No ClinGen
Ensembl
TCGA novel 1321 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs572727900
CA1632406
1322 L>P No ClinGen
1000Genomes
ExAC
gnomAD
CA346795668
rs1217122584
1322 L>V No ClinGen
gnomAD
CA346795658
rs1255197691
1323 L>F No ClinGen
TOPMed
CA1632405
rs760789285
1324 L>V No ClinGen
ExAC
gnomAD
CA1632402
rs369627486
1326 V>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs369627486
CA1632403
1326 V>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs201128133
CA1632398
1331 Y>* No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA346795609
rs1465352728
1331 Y>C No ClinGen
gnomAD
CA1632399
rs749171840
1331 Y>H No ClinGen
ExAC
TOPMed
gnomAD
COSM1020997
rs374567143
CA1632396
1332 A>T Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs958389576
CA46916601
1333 S>F No ClinGen
TOPMed
CA346795601
rs1174499939
1333 S>P No ClinGen
TOPMed
CA1632395
rs780951604
1334 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs780951604
CA346795594
1334 P>Q No ClinGen
ExAC
TOPMed
gnomAD
CA346795587
rs1437917951
1335 M>I No ClinGen
gnomAD
rs751054086
CA1632393
1335 M>T No ClinGen
ExAC
gnomAD
rs766919709
CA1632392
1336 D>G No ClinGen
ExAC
gnomAD
CA346795576
rs1316967181
1337 G>S No ClinGen
gnomAD
rs1274177901
CA346795568
1338 T>N No ClinGen
gnomAD
rs754278667
CA1632390
1339 S>T No ClinGen
ExAC
TOPMed
gnomAD
rs1553438872
CA1632388
1341 A>T No ClinGen
Ensembl
rs1284127353
CA346795550
1341 A>V No ClinGen
gnomAD
CA1632385
rs760992778
1342 L>R No ClinGen
ExAC
gnomAD
rs376676079
CA1632386
1342 L>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1632383
rs767672216
1343 S>C No ClinGen
ExAC
TOPMed
gnomAD
CA346795541
rs1165331139
1343 S>I No ClinGen
TOPMed
gnomAD
CA346795542
rs1165331139
1343 S>T No ClinGen
TOPMed
gnomAD
CA1632382
rs371383318
1344 M>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs774406944
CA1632381
1345 G>E No ClinGen
ExAC
gnomAD
CA346795530
rs1307999607
1345 G>R No ClinGen
TOPMed
rs367558358
CA1632380
1346 P>S No ClinGen
ESP
ExAC
gnomAD
rs762773881
CA1632379
1348 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA346795512
rs762773881
1348 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs775445499
CA1632378
1349 P>A No ClinGen
ExAC
gnomAD
rs775445499
CA346795506
1349 P>S No ClinGen
ExAC
gnomAD
CA1632377
rs769507793
1350 F>V No ClinGen
ExAC
gnomAD
rs745590959
CA1632376
1351 I>T No ClinGen
ExAC
gnomAD
CA346795494
rs1285645025
1351 I>V No ClinGen
gnomAD
CA1632375
rs375300314
1352 M>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA346795481
rs1320303174
1353 R>G No ClinGen
gnomAD
rs1558743801
CA346795477
1353 R>K No ClinGen
Ensembl
rs56269749
CA1632358
RCV000950080
1353 R>S No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA346794722
rs1217660859
1354 C>S No ClinGen
gnomAD
rs770757753
CA1632357
1355 G>V No ClinGen
ExAC
TOPMed
gnomAD
CA1632356
rs746683362
1358 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA346794607
rs1431247906
1361 H>Q No ClinGen
TOPMed
gnomAD
CA346794611
rs1354728330
1361 H>R No ClinGen
TOPMed
rs1362303136
CA346794603
1362 S>T No ClinGen
gnomAD
CA1632355
rs772880597
1362 S>Y No ClinGen
ExAC
gnomAD
rs771492300
CA1632354
1363 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA346794594
rs1375516302
1363 R>H No ClinGen
gnomAD
rs1375429504
CA346794591
1364 E>K No ClinGen
TOPMed
CA346794582
rs1177654322
1365 M>V No ClinGen
gnomAD
CA346794574
rs1431071311
1366 A>T No ClinGen
gnomAD
CA346794569
rs1424056306
1366 A>V No ClinGen
gnomAD
CA46912846
rs368607191
1367 A>P No ClinGen
ESP
ExAC
gnomAD
rs368607191
CA1632353
1367 A>T No ClinGen
ESP
ExAC
gnomAD
CA1632352
rs780486249
1368 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs756611622
CA1632351
1368 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs1409485099
CA346794537
1369 A>V No ClinGen
gnomAD
rs1311789471
CA346794500
1372 P>L No ClinGen
gnomAD
CA46912845
rs889995937
1372 P>T No ClinGen
gnomAD
TCGA novel 1373 F>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs757565644
CA1632348
1373 F>L No ClinGen
ExAC
gnomAD
CA46912844
rs934419812
1373 F>S No ClinGen
TOPMed
gnomAD
rs1342122485
CA346794472
1374 V>F No ClinGen
TOPMed
gnomAD
CA1632347
rs751757187
1375 M>L No ClinGen
ExAC
rs529935819
CA1632345
1375 M>R No ClinGen
1000Genomes
ExAC
gnomAD
rs529935819
CA1632346
1375 M>T No ClinGen
1000Genomes
ExAC
gnomAD
CA346794403
rs1356064931
1378 H>Q No ClinGen
gnomAD
CA346794407
rs1399288216
1378 H>R No ClinGen
gnomAD
CA346794387
rs1308327649
1379 I>M No ClinGen
TOPMed
rs1573456131
CA346794396
1379 I>V No ClinGen
Ensembl
CA1632344
rs752807012
1380 P>T No ClinGen
ExAC
TOPMed
CA1632343
rs370231636
1381 N>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA346794351
rs1457327803
1382 T>S No ClinGen
TOPMed
CA1632342
rs199909782
1383 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1632340
rs548266644
COSM3426464
1384 R>* large_intestine Variant assessed as Somatic; 4.641e-05 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs548266644
CA1632339
1384 R>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs377643139
CA346794330
1384 R>P No ClinGen
ExAC
TOPMed
gnomAD
CA1632338
rs377643139
1384 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA46912843
rs33979934
1385 T>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
VAR_054073
rs33979934
CA1632337
1385 T>S No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1180124387
CA346794280
1388 S>C No ClinGen
TOPMed
gnomAD
CA46912842
rs377673222
1389 T>I No ClinGen
ESP
TOPMed
gnomAD
rs1327886829
CA346794277
1389 T>P No ClinGen
TOPMed
rs773822690
CA1632334
1390 L>F No ClinGen
ExAC
gnomAD
CA346794252
rs1435614948
1391 P>S No ClinGen
TOPMed
TCGA novel 1392 S>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA346794235
rs1316336706
1392 S>G No ClinGen
TOPMed
gnomAD
rs746392384
CA1632330
1393 C>* No ClinGen
ExAC
gnomAD
rs781631410
CA1632329
1394 T>A No ClinGen
ExAC
TOPMed
gnomAD
rs771289600
CA1632328
1395 D>H No ClinGen
ExAC
gnomAD
CA1632327
rs777912941
1398 F>C No ClinGen
ExAC
TOPMed
gnomAD
CA346794127
rs1216563958
1398 F>L No ClinGen
TOPMed
CA1632326
rs777912941
1398 F>Y No ClinGen
ExAC
TOPMed
gnomAD
CA346794110
rs370092582
1399 R>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1632324
rs370092582
1399 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
COSM1020995
CA1632325
rs182266798
1399 R>W endometrium [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA1632323
rs779157211
1400 Q>H No ClinGen
ExAC
gnomAD
rs1275074355
CA346794085
1402 H>R No ClinGen
TOPMed
CA346794071
rs1170365535
1404 H>R No ClinGen
gnomAD
CA346794060
rs1462300721
1406 T>A No ClinGen
gnomAD
rs753830995
CA1632321
1407 L>F No ClinGen
ExAC
gnomAD
CA1632320
rs546423687
1408 L>F No ClinGen
1000Genomes
ExAC
gnomAD
CA46912841
rs760017796
1409 Q>H No ClinGen
ExAC
TOPMed
gnomAD
CA346793503
rs1233476731
1410 V>I No ClinGen
gnomAD
rs1332508930
CA346793487
1411 F>S No ClinGen
gnomAD
rs761472063
CA1632291
1412 H>R No ClinGen
ExAC
TOPMed
gnomAD
CA1632287
rs774974567
1414 L>F No ClinGen
ExAC
TOPMed
gnomAD
rs1359947372
CA346793434
1415 Q>E No ClinGen
gnomAD
rs367984894
CA1632286
1415 Q>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1376168649
CA346793417
1416 A>T No ClinGen
gnomAD
CA46905871
rs868103313
1416 A>V No ClinGen
TOPMed
gnomAD
CA346793405
rs1432402515
1417 Y>S No ClinGen
gnomAD
CA1632285
rs761269249
1418 S>* No ClinGen
ExAC
gnomAD
rs748466079
CA1632282
1420 S>C No ClinGen
ExAC
gnomAD
rs926936403
CA46905870
1421 K>I No ClinGen
TOPMed
gnomAD
rs1253887914
CA346793344
1421 K>N No ClinGen
gnomAD
TCGA novel 1421 K>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1632280
rs768999434
1423 G>R No ClinGen
ExAC
gnomAD
CA1632278
rs141195177
1424 T>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA1632277
rs141195177
1424 T>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs780921296
CA1632275
1425 N>D No ClinGen
ExAC
gnomAD
TCGA novel 1425 N>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs757084513
CA1632274
1428 F>V No ClinGen
ExAC
TOPMed
gnomAD
rs564383457
CA1632273
1429 Q>* No ClinGen
1000Genomes
ExAC
gnomAD
CA346793240
rs1484266394
1429 Q>H No ClinGen
TOPMed
rs763803266
CA1632272
1430 H>R No ClinGen
ExAC
gnomAD
rs746487271
CA1632270
1431 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs374645810
CA46905869
1432 L>M No ClinGen
ESP
rs1476770326
CA346793196
1433 T>A No ClinGen
gnomAD
CA1632269
rs764835676
1433 T>S No ClinGen
ExAC
gnomAD
rs370115327
CA46905868
1434 D>G No ClinGen
gnomAD
CA346793175
rs1215446607
1435 I>V No ClinGen
gnomAD
rs1199497866
CA346793155
1436 T>I No ClinGen
gnomAD
rs767897367
CA346793104
1440 K>I No ClinGen
ExAC
gnomAD
rs767897367
CA1632266
1440 K>R No ClinGen
ExAC
gnomAD
rs1217220320
CA346793075
1442 K>N No ClinGen
gnomAD
CA1632265
rs61754254
1443 L>F No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA346793063
rs1285318553
1443 L>P No ClinGen
TOPMed
gnomAD
CA1632264
rs774830630
1444 W>* No ClinGen
ExAC
TOPMed
gnomAD
CA346793051
rs774830630
1444 W>C No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 1445 L>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1632263
rs769050649
1445 L>V No ClinGen
ExAC
gnomAD
CA1632260
rs769919179
1447 K>E No ClinGen
ExAC
gnomAD
rs1010599811
CA346792971
1449 Q>* No ClinGen
TOPMed
gnomAD
rs1010599811
CA46902902
1449 Q>E No ClinGen
TOPMed
gnomAD
rs1010599811
CA346792972
1449 Q>K No ClinGen
TOPMed
gnomAD
CA346792961
rs1438355801
1450 N>S No ClinGen
gnomAD
CA346792956
rs17334247
1451 P>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs17334247
RCV000949480
VAR_054074
CA1632236
1451 P>S No ClinGen
ClinVar
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA346792951
rs1420250214
1452 C>R No ClinGen
TOPMed
CA1632235
rs777623248
1453 L>F No ClinGen
ExAC
TOPMed
gnomAD
CA46902901
rs373483202
1454 V>M No ClinGen
ESP
TOPMed
CA346792926
rs1361867645
1456 R>G No ClinGen
gnomAD
rs771870042
CA1632234
1458 V>I No ClinGen
ExAC
gnomAD
rs80019860
CA1632233
1459 Y>D No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs80019860
CA1632232
1459 Y>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs754559135
CA1632231
1460 I>T No ClinGen
ExAC
gnomAD
CA346792895
rs1284250185
1461 D>Y No ClinGen
TOPMed
CA1632230
rs753440650
1462 I>T No ClinGen
ExAC
gnomAD
rs1573051093
CA346792876
COSM721835
1464 F>L lung [Cosmic] No ClinGen
cosmic curated
Ensembl
CA346792852
rs1288189314
1467 T>I Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA46902900
rs998113941
1468 C>G No ClinGen
Ensembl
CA346792825
rs1217994941
1471 N>S No ClinGen
TOPMed
rs752998473
CA1632224
1476 D>E No ClinGen
ExAC
gnomAD
CA1632226
rs764636271
1476 D>H No ClinGen
ExAC
gnomAD
rs201616676
CA1632225
1476 D>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1281015129
CA346792790
1477 N>H No ClinGen
gnomAD
rs1217751231
CA346792786
1477 N>S No ClinGen
TOPMed
gnomAD
CA1632222
rs759653562
1479 P>S No ClinGen
ExAC
gnomAD
rs1475811948
CA346795462
1480 V>A No ClinGen
TOPMed
rs767494589
CA1632199
1483 S>G No ClinGen
ExAC
gnomAD
rs761680850
CA1632198
1483 S>I No ClinGen
ExAC
gnomAD
rs1249469121
CA346795440
1484 L>F No ClinGen
gnomAD
CA1632197
rs774309088
1485 G>D No ClinGen
ExAC
TOPMed
gnomAD
rs1188327703
CA346795435
1485 G>S No ClinGen
TOPMed
CA346795431
rs774309088
1485 G>V No ClinGen
ExAC
TOPMed
gnomAD
rs1314184857
CA346795427
1486 F>S No ClinGen
gnomAD
CA346795419
rs1409636877
1487 W>L No ClinGen
TOPMed
rs768344582
CA1632196
1488 E>G No ClinGen
ExAC
gnomAD
CA346795413
rs1243145217
1488 E>K No ClinGen
gnomAD
CA346795401
rs1309515700
1489 E>V No ClinGen
gnomAD
rs1164392015
CA346795395
1490 V>D No ClinGen
TOPMed
rs749050784
CA1632195
1491 R>T No ClinGen
ExAC
TOPMed
gnomAD
CA1632194
rs775336282
1492 G>E No ClinGen
ExAC
gnomAD
TCGA novel 1494 I>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs745407637
CA1632192
1495 S>L No ClinGen
ExAC
gnomAD
CA1632191
rs780825016
1496 G>R No ClinGen
ExAC
gnomAD
CA46899639
rs867018231
1496 G>V No ClinGen
Ensembl
CA346795353
CA346795354
rs1352155595
1497 S>* No ClinGen
gnomAD
rs779418362
CA1632188
1500 I>M No ClinGen
ExAC
TOPMed
gnomAD
CA1632189
rs748633101
1500 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs1046806468
CA46899638
1501 T>A No ClinGen
TOPMed
COSM1267744
CA46899637
rs946905474
1501 T>M oesophagus [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
CA346795325
rs1246272975
1502 G>V No ClinGen
TOPMed
CA346795318
rs1248124819
1503 F>L No ClinGen
gnomAD
CA346795314
rs1195031721
1504 P>S No ClinGen
gnomAD
COSM721837
rs199689117
CA46899636
1506 A>S lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
1000Genomes
NCI-TCGA
CA1632185
rs766629856
1509 V>A No ClinGen
ExAC
gnomAD
CA1632186
rs754200134
1509 V>M No ClinGen
ExAC
gnomAD
CA346795275
rs1558531907
1510 P>A No ClinGen
Ensembl
CA346795273
rs369662844
1510 P>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1632183
rs369662844
1510 P>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs376390075
CA1632182
1511 G>D No ClinGen
ESP
ExAC
gnomAD
rs376390075
CA346795267
1511 G>V No ClinGen
ESP
ExAC
gnomAD
rs761888989
CA1632181
1513 P>S No ClinGen
ExAC
gnomAD
rs1481587503
CA346795254
1514 Q>* No ClinGen
gnomAD
TCGA novel 1514 Q>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA46899635
rs975506975
1515 Y>C No ClinGen
TOPMed
gnomAD
rs1387719931
CA346795246
1515 Y>D No ClinGen
gnomAD
CA346795244
rs975506975
1515 Y>F No ClinGen
TOPMed
gnomAD
rs975506975
CA346795245
1515 Y>S No ClinGen
TOPMed
gnomAD
CA346795223
rs1572944350
1518 S>T No ClinGen
Ensembl
CA346795215
rs1572944343
1519 L>P No ClinGen
Ensembl
CA346795212
rs1572944315
1520 T>P No ClinGen
Ensembl
rs942366058
CA46899634
1521 R>G No ClinGen
TOPMed
rs1160584460
CA346795203
1521 R>S No ClinGen
gnomAD
CA1632177
rs775391450
1521 R>T No ClinGen
ExAC
gnomAD
rs911374261
CA46899633
1522 L>V No ClinGen
gnomAD
rs372401509
CA346795187
1524 I>M No ClinGen
ESP
ExAC
gnomAD
TCGA novel 1524 I>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs776382392
CA1632174
1524 I>V No ClinGen
ExAC
gnomAD
CA346795184
rs1218505226
1525 A>S No ClinGen
TOPMed
CA346795182
rs1240447504
1525 A>V No ClinGen
TOPMed
CA346795177
rs1197148640
1526 A>E No ClinGen
gnomAD
CA1632172
rs746516287
1527 V>L No ClinGen
ExAC
gnomAD
rs1475088922
CA346795166
1528 W>* No ClinGen
TOPMed
CA1632170
rs755480967
1530 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs749703786
CA1632169
1530 A>V No ClinGen
ExAC
gnomAD
rs756433637
CA1632167
1531 A>T No ClinGen
ExAC
gnomAD
rs750653209
CA1632166
1533 K>R No ClinGen
ExAC
gnomAD
CA346795125
rs1572944058
1534 S>R No ClinGen
Ensembl
rs375003194
CA1632164
1535 G>A No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs781420465
CA1632165
1535 G>R No ClinGen
ExAC
TOPMed
gnomAD
CA346795121
rs375003194
1535 G>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs751650394
CA1632163
1536 E>* No ClinGen
ExAC
gnomAD
rs763976539
CA1632162
1536 E>D No ClinGen
ExAC
gnomAD
rs368805649
CA1632161
1537 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA346795113
rs1380618914
1537 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs972810310
CA46899632
1538 E>Q No ClinGen
Ensembl
rs199712314
CA1632158
1539 T>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs770613871
CA1632156
1540 N>K No ClinGen
ExAC
gnomAD
CA1632155
rs760144479
1541 V>F No ClinGen
ExAC
TOPMed
gnomAD
CA346795074
rs1452720331
1543 I>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA1632153
rs57257569
1544 S>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA1632151
rs780476875
1545 F>L No ClinGen
ExAC
gnomAD
rs750579187
CA1632149
1546 S>C No ClinGen
ExAC
TOPMed
gnomAD
CA1632150
rs770161216
1546 S>T No ClinGen
ExAC
gnomAD
CA346795056
rs1223314622
1547 Q>E No ClinGen
gnomAD
CA346795053
rs1572943738
1547 Q>R No ClinGen
Ensembl
CA346795039
rs1351782178
1549 L>F No ClinGen
TOPMed
CA346795036
rs1225983961
1550 E>K No ClinGen
TOPMed
CA346795029
rs1325897252
1551 S>A No ClinGen
TOPMed
gnomAD
rs1325897252
CA346795028
1551 S>P No ClinGen
TOPMed
gnomAD
CA1632144
rs527237721
1554 P>R No ClinGen
ExAC
TOPMed
gnomAD
rs558997006
CA46899631
1555 E>V No ClinGen
1000Genomes
TOPMed
CA1632142
rs765208529
COSM3407863
1557 R>C central_nervous_system [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA1632141
rs759472606
1557 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1313757059
CA346794982
1558 S>L No ClinGen
TOPMed
gnomAD
rs200863125
CA346794979
1559 L>P No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs200863125
CA1632138
1559 L>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs573383426
CA1632136
1562 E>K No ClinGen
1000Genomes
ExAC
gnomAD
rs761258931
CA1632135
1563 A>D No ClinGen
ExAC
TOPMed
gnomAD
CA346794955
rs761258931
1563 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs1194560863
CA346794949
1564 L>R No ClinGen
gnomAD
rs1339328967
CA346794938
1566 E>G No ClinGen
gnomAD
rs1247086713
CA346794913
1569 L>* No ClinGen
TOPMed
gnomAD
rs1247086713
CA346794914
1569 L>S No ClinGen
TOPMed
gnomAD
rs770277814
CA1632133
1570 A>S No ClinGen
ExAC
TOPMed
gnomAD
CA1632132
rs746253931
1570 A>V No ClinGen
ExAC
gnomAD
rs781596030
CA1632131
1571 A>V No ClinGen
ExAC
gnomAD
CA346794899
rs1444800917
1572 A>S No ClinGen
TOPMed
rs771149151
CA1632130
1572 A>V No ClinGen
ExAC
gnomAD
rs1408096176
CA346794877
COSM721839
1576 G>R lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
rs1224616025
CA346794868
1577 E>G No ClinGen
TOPMed
rs1558530996
CA346794872
1577 E>K No ClinGen
Ensembl
rs747285389
CA1632129
1579 G>D No ClinGen
ExAC
TOPMed
gnomAD
CA1632127
rs758564351
1580 V>M No ClinGen
ExAC
TOPMed
gnomAD
CA346794839
rs748234890
1582 P>A No ClinGen
ExAC
TOPMed
gnomAD
rs779034241
CA1632125
1582 P>H No ClinGen
ExAC
gnomAD
CA46899627
rs779034241
1582 P>R No ClinGen
ExAC
gnomAD
CA1632126
rs748234890
1582 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA346794840
rs748234890
1582 P>T No ClinGen
ExAC
TOPMed
gnomAD
CA46899626
rs1049195279
1583 L>W No ClinGen
TOPMed
rs1439972377
CA346794818
1586 N>D No ClinGen
gnomAD
CA1632124
rs754945039
1586 N>S No ClinGen
ExAC
gnomAD
CA1632123
rs753670448
1588 G>R No ClinGen
ExAC
gnomAD
rs370554521
CA1632122
1588 G>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA346794797
rs1186943213
1589 E>Q Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs750107716
CA1632120
1590 K>E No ClinGen
ExAC
rs761375452
CA1632118
1593 L>F No ClinGen
ExAC
gnomAD
CA1632117
rs773814754
1594 L>S No ClinGen
ExAC
gnomAD
CA346794756
rs1379426338
1595 A>T No ClinGen
gnomAD
CA346794750
rs566925095
1596 M>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA1632114
rs566925095
1596 M>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA346794741
rs1335038174
1597 K>E No ClinGen
gnomAD
rs1426517185
CA346794713
1599 N>Y No ClinGen
gnomAD
CA46899625
rs35720761
1605 C>F No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA1632112
rs35720761
1605 C>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
VAR_054075
CA1632111
rs35720761
1605 C>Y No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA46899555
rs977222960
1607 I>V No ClinGen
Ensembl
CA346794517
rs1290704419
1610 I>T No ClinGen
gnomAD
CA1632093
rs202161314
1611 L>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs375630962
CA346794496
1612 H>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs761142574
CA1632092
1612 H>Y No ClinGen
ExAC
gnomAD
rs772518035
CA1632090
1613 C>R No ClinGen
ExAC
gnomAD
rs748414681
CA1632089
CA46899553
1614 M>L No ClinGen
ExAC
TOPMed
gnomAD
CA346794480
rs748414681
1614 M>V No ClinGen
ExAC
TOPMed
gnomAD
CA1632088
rs774651058
1615 D>G No ClinGen
ExAC
TOPMed
gnomAD
CA346794462
rs774651058
1615 D>V No ClinGen
ExAC
TOPMed
gnomAD
CA346794456
rs1345691974
1616 P>A No ClinGen
gnomAD
rs1164015549
CA346794452
1616 P>R No ClinGen
TOPMed
CA346794429
rs1359416100
1618 E>D Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA46899552
rs139334985
1618 E>Q No ClinGen
1000Genomes
TOPMed
gnomAD
CA1632087
rs768798061
1619 W>* No ClinGen
ExAC
gnomAD
rs749319540
CA1632086
1621 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs1572940488
CA346794379
1622 Q>P No ClinGen
Ensembl
rs769583799
CA1632084
1623 T>A No ClinGen
ExAC
TOPMed
CA346794369
rs780984068
1623 T>K No ClinGen
ExAC
TOPMed
gnomAD
rs780984068
CA1632082
1623 T>M No ClinGen
ExAC
TOPMed
gnomAD
CA1632083
rs780984068
1623 T>R No ClinGen
ExAC
TOPMed
gnomAD
rs751216022
CA1632080
1624 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs1186035613
CA346794350
1625 H>N No ClinGen
gnomAD
CA1632079
rs777348090
1625 H>P No ClinGen
ExAC
gnomAD
rs1186035613
CA346794346
1625 H>Y No ClinGen
gnomAD
rs146912753
CA1632078
1626 C>S No ClinGen
1000Genomes
ExAC
gnomAD
CA46899551
rs998436438
1628 H>R No ClinGen
gnomAD
CA1632076
rs766959700
1628 H>Y No ClinGen
ExAC
TOPMed
gnomAD
rs34600960
CA46899550
COSM419163
1629 L>V urinary_tract [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA346794288
rs1309212843
1631 P>S No ClinGen
gnomAD
CA1632073
rs768000359
1633 E>D No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 1634 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1572940307
CA346794247
1634 F>V No ClinGen
Ensembl
CA1632072
rs201100629
1637 W>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1450095520
CA346794205
1638 T>A No ClinGen
gnomAD
rs200266713
CA1632071
1638 T>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs369444028
CA1632068
1639 M>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs763137214
CA1632069
1639 M>V No ClinGen
ExAC
TOPMed
gnomAD
rs769859816
CA1632067
1640 D>G No ClinGen
ExAC
TOPMed
gnomAD
CA346794175
rs1387228288
1641 I>V No ClinGen
TOPMed
gnomAD
CA1632066
rs745832871
1642 A>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA1632065
rs781038918
1642 A>V No ClinGen
ExAC
gnomAD
CA46899548
rs377250218
1644 N>S No ClinGen
ESP
TOPMed
gnomAD
rs746792700
CA346794112
1646 R>I No ClinGen
ExAC
gnomAD
CA1632063
rs746792700
1646 R>K No ClinGen
ExAC
gnomAD
rs1301304136
CA346794024
1646 R>S No ClinGen
TOPMed
gnomAD
CA1632064
rs746792700
1646 R>T No ClinGen
ExAC
gnomAD
CA346794018
rs1572938779
1647 S>C No ClinGen
Ensembl
CA346794022
rs1404429615
1647 S>P No ClinGen
gnomAD
CA346794009
rs1451759214
1649 I>V No ClinGen
TOPMed
CA46899499
rs1013476660
1651 S>I No ClinGen
gnomAD
rs1290851458
CA346793979
1653 A>S No ClinGen
TOPMed
gnomAD
CA346793977
rs1324895603
1653 A>V No ClinGen
gnomAD
rs10201898
CA346793974
1654 L>V No ClinGen
TOPMed
gnomAD
rs1128210
CA46899497
1656 L>I No ClinGen
gnomAD
CA346793959
rs1480683190
1656 L>R No ClinGen
gnomAD
rs1128210
CA346793963
1656 L>V No ClinGen
gnomAD
rs867956557
CA46899496
1658 S>Y No ClinGen
Ensembl
CA46899493
rs977850549
1661 I>T No ClinGen
TOPMed
rs537745880
CA46899494
1661 I>V No ClinGen
TOPMed
gnomAD
rs759552112
CA1632045
1662 S>F No ClinGen
ExAC
gnomAD
CA1632042
rs746846053
1663 H>Q No ClinGen
ExAC
gnomAD
CA1632043
rs770850120
1663 H>Y No ClinGen
ExAC
TOPMed
gnomAD
CA346793915
rs1246993734
1664 H>Y No ClinGen
TOPMed
rs1224518822
CA346793907
1665 M>L No ClinGen
gnomAD
CA1632041
rs772904848
1665 M>R No ClinGen
ExAC
TOPMed
rs1326207991
CA346793900
1666 Q>E No ClinGen
gnomAD
CA346793894
rs1281917436
1666 Q>H No ClinGen
gnomAD
rs17030648
VAR_054076
CA1632039
1668 C>R No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA346793877
rs1384529633
1669 V>G No ClinGen
TOPMed
gnomAD
rs1380703821
CA346793880
1669 V>M No ClinGen
gnomAD
rs771778704
CA1632023
1671 N>K No ClinGen
ExAC
gnomAD
rs1327363729
CA346793835
1673 E>V No ClinGen
TOPMed
CA1632019
rs773944442
1674 L>F No ClinGen
ExAC
gnomAD
rs768395074
CA1632018
1675 I>L No ClinGen
ExAC
gnomAD
rs748860361
CA1632016
COSM3782205
1675 I>M pancreas [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
rs1035671562
CA46898873
1675 I>T No ClinGen
TOPMed
gnomAD
CA46898874
rs768395074
1675 I>V No ClinGen
ExAC
gnomAD
CA346793822
rs1339241146
1676 A>P No ClinGen
TOPMed
rs750259984
CA1632014
1678 E>G No ClinGen
ExAC
TOPMed
gnomAD
rs779728801
CA1632015
1678 E>K No ClinGen
ExAC
gnomAD
CA346793805
rs1338788849
1679 L>M No ClinGen
gnomAD
rs747472058
CA1632013
1681 Q>H No ClinGen
ExAC
gnomAD
CA346793781
rs1248381377
1682 W>* No ClinGen
gnomAD
rs778281864
CA1632012
1683 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA346793757
rs528278609
1686 V>F No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA1632010
rs528278609
1686 V>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs765483431
CA1632009
1687 I>L No ClinGen
ExAC
gnomAD
rs1369379639
CA346793743
1688 L>W No ClinGen
gnomAD
TCGA novel 1689 S>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1632007
rs754020271
1692 D>N No ClinGen
ExAC
gnomAD
CA46898872
rs754020271
1692 D>Y No ClinGen
ExAC
gnomAD
rs766451280
CA1632006
1693 H>Y No ClinGen
ExAC
gnomAD
rs760749228
CA1632005
1694 L>F No ClinGen
ExAC
gnomAD
rs1180252488
CA346793696
1695 P>L No ClinGen
TOPMed
gnomAD
rs773079245
CA1632004
1695 P>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
COSM1408116
CA46898871
rs989473013
1696 T>A large_intestine [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
CA346793686
rs1224818565
1697 E>G No ClinGen
gnomAD
CA346793690
rs765010895
1697 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA1632003
rs765010895
1697 E>Q Variant assessed as Somatic; 0.0002321 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA1632001
rs774170476
1698 S>C No ClinGen
ExAC
gnomAD
CA1632002
rs761550054
1698 S>P No ClinGen
ExAC
gnomAD
rs1351091338
CA346793675
1699 R>M No ClinGen
gnomAD
CA46898870
rs976926911
1699 R>W No ClinGen
TOPMed
CA346793672
rs1281120845
1700 L>M No ClinGen
gnomAD
rs1572917715
CA346793657
1702 V>G No ClinGen
Ensembl
rs372744844
CA1631998
1702 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1631995
rs778211793
1703 V>A No ClinGen
ExAC
TOPMed
gnomAD
CA1631996
rs369837115
1703 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA346793652
rs1400976366
1704 E>K No ClinGen
gnomAD
CA346793644
rs1316669297
1705 V>I No ClinGen
TOPMed
rs1157221089
CA346793636
1706 L>I No ClinGen
TOPMed
gnomAD
CA346793637
rs1157221089
1706 L>V No ClinGen
TOPMed
gnomAD
rs995226614
CA46898869
1709 T>S No ClinGen
TOPMed
CA346793609
rs1430630406
1710 T>I No ClinGen
gnomAD
rs772602244
CA1631994
1710 T>S No ClinGen
ExAC
gnomAD
rs1380705616
CA346793607
1711 P>A No ClinGen
TOPMed
rs748510527
CA1631993
1712 L>V No ClinGen
ExAC
TOPMed
gnomAD
CA346793593
rs1246244308
1713 F>S No ClinGen
gnomAD
TCGA novel 1715 T>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1394001668
CA346793576
1716 N>H No ClinGen
TOPMed
gnomAD
rs779272372
CA1631992
1716 N>I No ClinGen
ExAC
gnomAD
rs755268690
CA1631991
1717 P>A No ClinGen
ExAC
gnomAD
rs754071648
CA1631990
1717 P>H No ClinGen
ExAC
TOPMed
gnomAD
CA46898868
rs755268690
1717 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs780239835
CA46898867
1718 H>D No ClinGen
ExAC
TOPMed
gnomAD
CA346793566
rs1283842766
1718 H>P No ClinGen
gnomAD
rs780239835
CA1631989
1718 H>Y No ClinGen
ExAC
TOPMed
gnomAD
rs756212636
CA1631988
1721 L>F No ClinGen
ExAC
CA46897903
rs926085948
1722 E>V No ClinGen
Ensembl
rs866177805
CA46897902
1724 Q>R No ClinGen
Ensembl
CA46897901
rs760164939
1725 D>H No ClinGen
ExAC
TOPMed
gnomAD
rs760164939
CA1631959
1725 D>N No ClinGen
ExAC
TOPMed
gnomAD
CA346793484
rs1417508231
1726 T>S No ClinGen
TOPMed
gnomAD
rs768871800
CA46897900
1727 L>F No ClinGen
ExAC
gnomAD
rs768871800
CA1631958
1727 L>V No ClinGen
ExAC
gnomAD
CA1631956
rs771171430
1729 L>P No ClinGen
ExAC
TOPMed
gnomAD
rs769118323
CA1631957
1729 L>V No ClinGen
ExAC
gnomAD
rs770010052
CA1631954
1730 W>S No ClinGen
ExAC
gnomAD
CA1631953
rs747380193
COSM4141104
1732 C>R ovary [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs1271925462
CA346793396
1733 V>A No ClinGen
gnomAD
CA1631952
rs781216564
1734 L>F No ClinGen
ExAC
TOPMed
gnomAD
CA346793379
rs1317529961
1735 T>N No ClinGen
gnomAD
rs757419411
CA346793370
1736 L>F No ClinGen
ExAC
TOPMed
gnomAD
rs757419411
CA1631951
1736 L>V No ClinGen
ExAC
TOPMed
gnomAD
CA46897899
rs943075659
1738 Q>R No ClinGen
TOPMed
gnomAD
rs910228018
CA46897898
1740 E>D No ClinGen
gnomAD
CA346793314
rs1352786686
1740 E>G No ClinGen
gnomAD
rs556968261
CA1631948
1740 E>K No ClinGen
1000Genomes
ExAC
gnomAD
CA1631947
rs112504846
1741 E>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1387323877
CA346793271
1743 A>V No ClinGen
gnomAD
CA346793237
rs1421832057
1746 D>G No ClinGen
gnomAD
CA346793243
rs1161963500
1746 D>N No ClinGen
TOPMed
gnomAD
rs1412855172
CA346793223
1747 A>V No ClinGen
TOPMed
gnomAD
rs765112085
CA1631946
1749 T>M No ClinGen
ExAC
gnomAD
CA46897897
rs879225115
1750 E>K No ClinGen
TOPMed
gnomAD
CA46897896
rs879225115
1750 E>Q No ClinGen
TOPMed
gnomAD
CA346793178
rs1572890575
1751 T>P No ClinGen
Ensembl
CA1631944
rs183860704
1752 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs1572890538
CA346793149
1753 T>K No ClinGen
Ensembl
rs1490395307
CA346793156
1753 T>P No ClinGen
gnomAD
rs1572890523
CA346793147
1754 T>P No ClinGen
Ensembl
CA346793112
rs1252804607
1756 M>I No ClinGen
TOPMed
rs765942366
CA1631943
1756 M>V No ClinGen
ExAC
TOPMed
gnomAD
CA46897894
rs571457349
1757 S>L No ClinGen
1000Genomes
rs1242206661
CA346793092
1758 Q>K No ClinGen
gnomAD
rs760216293
CA1631942
1759 E>K No ClinGen
ExAC
gnomAD
CA46897893
rs1026221518
1760 N>H No ClinGen
TOPMed
gnomAD
CA1631940
rs200217563
1761 T>P No ClinGen
ExAC
gnomAD
rs1290803777
CA346793031
1762 C>W No ClinGen
Ensembl
rs766962838
CA1631939
1763 Q>L No ClinGen
ExAC
gnomAD
CA46897892
rs969026738
1764 S>* No ClinGen
TOPMed
gnomAD
rs763479058
CA346793003
1765 T>A No ClinGen
ExAC
gnomAD
rs763479058
CA1631938
1765 T>P No ClinGen
ExAC
gnomAD
rs187305048
CA346644200
1766 E>D No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA346792993
rs1375470304
1766 E>K No ClinGen
gnomAD
CA346644202
rs1403259324
1766 E>V No ClinGen
TOPMed
CA1631919
rs753309368
1768 A>T No ClinGen
ExAC
gnomAD
CA1631918
rs765660952
1769 F>V No ClinGen
ExAC
TOPMed
gnomAD
CA346644160
rs747941151
1772 V>A No ClinGen
TOPMed
gnomAD
rs747941151
CA46412627
1772 V>G No ClinGen
TOPMed
gnomAD
CA1631917
rs200346288
1772 V>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1254257706
CA346644157
1773 D>N No ClinGen
gnomAD
CA1631916
rs776839617
1774 A>V No ClinGen
ExAC
CA346644141
rs1232648132
1775 S>F Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA1631915
rs370104439
1776 I>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs199949051
CA1631913
1777 A>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1319675976
CA346644113
1781 A>T No ClinGen
gnomAD
rs1209572543
CA346644108
1781 A>V No ClinGen
TOPMed
rs1481544790
CA346644102
1783 A>T No ClinGen
TOPMed
CA346644095
COSM1531914
rs201032063
1784 V>F lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs201032063
CA1631908
1784 V>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1465102437
CA346644067
1788 L>P No ClinGen
gnomAD
TCGA novel 1790 Q>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1631906
rs755836383
1791 Q>E No ClinGen
ExAC
gnomAD
CA1631904
CA1631903
rs756831818
1794 Q>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs750086155
CA1631905
1794 Q>R No ClinGen
ExAC
TOPMed
gnomAD
rs1355797169
CA346644011
1796 A>G No ClinGen
TOPMed
CA1631902
rs527393662
1797 P>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 1798 G>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA346644004
rs1200457296
1798 G>R No ClinGen
gnomAD
rs868598200
CA46412577
1798 G>V No ClinGen
TOPMed
gnomAD
CA1631901
rs765825863
1800 P>A No ClinGen
ExAC
TOPMed
gnomAD
rs759984808
CA1631900
1802 L>P No ClinGen
ExAC
TOPMed
gnomAD
rs759984808
CA346643980
1802 L>Q No ClinGen
ExAC
TOPMed
gnomAD
CA1631899
rs754331782
1805 W>* No ClinGen
ExAC
gnomAD
rs796208256
CA46412564
1807 L>F No ClinGen
gnomAD
rs1218882447
CA346643942
1809 E>K No ClinGen
TOPMed
rs1218882447
CA346643941
1809 E>Q No ClinGen
TOPMed
rs1558439485 1810 S>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
rs1042515153
CA46412558
1810 S>C No ClinGen
TOPMed
gnomAD
rs1042515153
CA346643933
1810 S>G No ClinGen
TOPMed
gnomAD
CA346643929
rs1558439454
1810 S>R No ClinGen
Ensembl
CA1631897
rs761064007
1810 S>T No ClinGen
ExAC
TOPMed
gnomAD
rs1309354603
CA346643927
1811 D>H No ClinGen
TOPMed
gnomAD
rs1309354603
CA346643926
1811 D>Y No ClinGen
TOPMed
gnomAD
rs773635027
CA1631896
1814 V>M No ClinGen
ExAC
TOPMed
gnomAD
CA1631894
rs761999372
1818 E>D No ClinGen
ExAC
gnomAD
rs561923328
CA46412553
1818 E>K No ClinGen
1000Genomes
TOPMed
CA346643872
rs1572698562
1819 S>N No ClinGen
Ensembl
rs1367130749
CA346643869
1819 S>R No ClinGen
gnomAD
rs768738682
CA1631892
CA1631893
1820 M>I No ClinGen
ExAC
TOPMed
gnomAD
rs1186757968
CA346643866
1820 M>V No ClinGen
TOPMed
CA1631890
rs779905934
1821 H>Q No ClinGen
ExAC
gnomAD
CA1631891
rs749182808
1821 H>Y No ClinGen
ExAC
TOPMed
gnomAD
CA1631889
rs769638629
1822 Q>H No ClinGen
ExAC
gnomAD
CA1631874
rs147386872
1825 E>D No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA1631875
rs367999040
1825 E>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA346643812
rs1290136065
1826 D>G No ClinGen
TOPMed
gnomAD
rs936609942
CA46411792
1826 D>N No ClinGen
TOPMed
rs1349315208
CA346643797
1828 L>P No ClinGen
gnomAD
CA346643766
rs1572692409
1832 A>V No ClinGen
Ensembl
rs1283400954
CA346643763
1833 E>K No ClinGen
gnomAD
rs745714135
CA1631871
1834 V>I No ClinGen
ExAC
gnomAD
CA346643750
rs1234982645
1835 N>D No ClinGen
gnomAD
CA1631869
rs746648119
1835 N>I No ClinGen
ExAC
TOPMed
gnomAD
rs746648119
CA1631868
1835 N>S No ClinGen
ExAC
TOPMed
gnomAD
CA1631870
rs746648119
1835 N>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1401647004
CA346643725
1838 A>V No ClinGen
gnomAD
CA1631867
rs777425957
1839 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs747629819
CA1631865
1842 I>M No ClinGen
ExAC
TOPMed
gnomAD
rs114651703
CA46411770
1842 I>V No ClinGen
1000Genomes
TOPMed
gnomAD
TCGA novel 1844 V>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs780755446
CA1631864
1845 K>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1246333935
CA346643680
1846 Y>H No ClinGen
gnomAD
CA46411753
rs1023479051
1849 K>R No ClinGen
gnomAD
rs756708495
CA1631862
1850 H>Y No ClinGen
ExAC
TOPMed
gnomAD
rs1320651415
CA346643633
1852 F>L No ClinGen
gnomAD
rs371924063
CA1631861
1852 F>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs368209318
CA1631860
1853 C>Y No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1631859
rs757581612
COSM419164
1856 S>* Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs1220435974
CA346643588
1857 K>* No ClinGen
gnomAD
CA346643580
rs1342340372
1857 K>M No ClinGen
TOPMed
gnomAD
rs751783656
CA1631858
1857 K>N No ClinGen
ExAC
gnomAD
CA346643585
rs1220435974
1857 K>Q No ClinGen
gnomAD
rs542006140
CA346643564
1859 G>C No ClinGen
1000Genomes
ExAC
TOPMed
rs542006140
CA1631855
1859 G>S No ClinGen
1000Genomes
ExAC
TOPMed
CA1631854
rs775528670
1861 R>C No ClinGen
ExAC
gnomAD
CA1631853
rs765254477
1861 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs765254477
CA346643538
1861 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA346643527
rs1407491611
1862 P>R No ClinGen
gnomAD
CA346643524
rs1440724397
1863 P>A No ClinGen
gnomAD
CA1631852
rs191149396
1864 S>N No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA1631850
rs770646079
1867 M>I No ClinGen
ExAC
rs1168691746
CA346643476
1867 M>T No ClinGen
gnomAD
rs1451590035
CA346643468
1868 L>V No ClinGen
gnomAD
rs1464316904
CA346643450
1869 C>* No ClinGen
gnomAD
rs185993732
CA1631848
1869 C>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA346643447
rs1237977574
COSM1193134
1870 H>D lung [Cosmic] No ClinGen
cosmic curated
gnomAD
rs904462656
CA46411709
1872 Q>E No ClinGen
TOPMed
gnomAD
rs772779173
CA1631847
1873 R>G No ClinGen
ExAC
gnomAD
rs1177401090
CA346643409
1873 R>S No ClinGen
TOPMed
rs1228630653
CA346643371
1877 E>G No ClinGen
gnomAD
rs907921774
CA46411704
1878 Q>K No ClinGen
TOPMed
gnomAD
CA346643338
rs1572691685
1880 H>P No ClinGen
Ensembl
rs1558436066
CA346643330
1881 L>F No ClinGen
Ensembl
rs1228108356
CA346643310
1883 S>F No ClinGen
gnomAD
COSM419165
rs984749651
CA46411694
1884 Q>* Variant assessed as Somatic; impact. urinary_tract [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
CA346643305
rs984749651
1884 Q>E No ClinGen
TOPMed
rs747751959
CA1631844
1884 Q>R No ClinGen
ExAC
TOPMed
gnomAD
CA46411683
rs888835455
1885 F>L No ClinGen
TOPMed
rs1007243861
CA46411686
1885 F>S No ClinGen
Ensembl
rs1296731580
CA346643271
1886 F>L No ClinGen
TOPMed
CA346643264
rs1476526284
1887 R>T No ClinGen
gnomAD
CA46411674
rs1051950887
1888 E>K No ClinGen
Ensembl
CA1631841
rs768211032
1890 P>S No ClinGen
ExAC
gnomAD
rs1388534328
CA346643230
1891 P>A No ClinGen
TOPMed
gnomAD
CA346643228
rs1388534328
1891 P>S No ClinGen
TOPMed
gnomAD
CA346643220
rs1168265774
1892 A>P No ClinGen
TOPMed
gnomAD
rs781712047
CA1631839
1894 E>G No ClinGen
ExAC
CA346643187
rs1275076097
1895 F>C No ClinGen
TOPMed
rs933120912
CA346643193
1895 F>I No ClinGen
TOPMed
gnomAD
CA46411670
rs933120912
1895 F>L No ClinGen
TOPMed
gnomAD
CA346643146
rs1482252754
1899 V>M No ClinGen
gnomAD
CA346643111
rs1201973154
1902 T>R No ClinGen
TOPMed
rs751924524
CA1631837
1903 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs777910643
CA1631836
1904 L>P No ClinGen
ExAC
TOPMed
gnomAD
CA346643095
rs1488616899
1904 L>V No ClinGen
TOPMed
CA1631835
rs199996414
1905 R>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs752879015
CA1631834
1905 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA346643087
rs752879015
1905 R>P No ClinGen
ExAC
TOPMed
gnomAD
rs996809928
CA46411649
1906 I>T No ClinGen
TOPMed
CA346643082
rs1315302202
1906 I>V No ClinGen
gnomAD
rs1215312845
CA346643070
1907 Q>E No ClinGen
gnomAD
rs1227067605
CA346643060
1907 Q>H No ClinGen
gnomAD
CA1631833
rs765307257
1908 E>G No ClinGen
ExAC
TOPMed
gnomAD
rs371018924
CA1631832
1912 L>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA346642996
rs1354103529
1914 C>R No ClinGen
TOPMed
rs1307628045
CA346642945
1919 A>D No ClinGen
gnomAD
CA346642949
rs1458629327
1919 A>T No ClinGen
TOPMed
CA46411642
rs940254506
1921 L>F No ClinGen
Ensembl
CA1631831
rs367792595
1921 L>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs760436314
CA1631829
1922 E>Q No ClinGen
ExAC
gnomAD
rs773081785
CA1631828
1924 K>R No ClinGen
ExAC
gnomAD
rs761560762
CA1631826
1925 E>D No ClinGen
ExAC
gnomAD
rs201598481
CA1631827
1925 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA346642879
rs1572691078
1926 G>E No ClinGen
Ensembl
rs774086395
CA1631825
COSM1726386
1926 G>R liver [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs748798993
CA1631823
1927 E>D No ClinGen
ExAC
TOPMed
gnomAD
CA1631824
rs768337527
1927 E>G No ClinGen
ExAC
CA346642876
rs1473269879
1927 E>K No ClinGen
TOPMed
gnomAD
rs1473269879
CA346642874
1927 E>Q No ClinGen
TOPMed
gnomAD
rs781593026
CA1631822
1928 D>H No ClinGen
ExAC
gnomAD
rs1008002642
CA46411624
1930 L>V No ClinGen
TOPMed
gnomAD
CA1631819
rs747427140
1931 V>A No ClinGen
ExAC
gnomAD
rs771450302
CA1631821
1931 V>I No ClinGen
ExAC
CA1631818
rs778234484
1933 S>N No ClinGen
ExAC
TOPMed
CA1631816
rs370796162
1937 S>A Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA346642754
rs1369397842
1938 Y>* No ClinGen
TOPMed
gnomAD
rs755119430
CA1631813
1939 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs1419252151
CA346642741
1940 E>Q No ClinGen
TOPMed
rs753930206
CA1631812
COSM1020986
1941 S>L endometrium [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs1437845083
CA346642726
1941 S>P No ClinGen
TOPMed
gnomAD
rs371002579
CA1631811
1943 Q>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1327285931
CA346642683
1945 T>I No ClinGen
TOPMed
gnomAD
rs1456195950
CA346642673
1947 P>R No ClinGen
gnomAD
rs779072355
CA346642660
1949 T>I No ClinGen
ExAC
TOPMed
gnomAD
rs779072355
CA1631809
1949 T>K No ClinGen
ExAC
TOPMed
gnomAD
rs779072355
CA1631810
1949 T>R No ClinGen
ExAC
TOPMed
gnomAD
CA346642659
rs1159785897
1950 E>K No ClinGen
gnomAD
CA346642648
rs114015985
1951 A>E No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSM1196222
CA1631807
rs114015985
1951 A>G lung [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA1631808
COSM1020985
rs114015985
1951 A>V Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs768388851
CA1631804
1953 C>R No ClinGen
ExAC
gnomAD
CA346642635
rs762604546
1953 C>W No ClinGen
ExAC
TOPMed
gnomAD

No associated diseases with Q6YHU6

2 regional properties for Q6YHU6

Type Name Position InterPro Accession
domain Homeobox domain 48 - 115 IPR001356
domain Homeobox KN domain 68 - 107 IPR008422

Functions

Description
EC Number
Subcellular Localization
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

1 GO annotations of cellular component

Name Definition
cytoplasmic side of endoplasmic reticulum membrane The side (leaflet) of the plasma membrane that faces the cytoplasm.

No GO annotations of molecular function

Name Definition
No GO annotations for molecular function

5 GO annotations of biological process

Name Definition
adaptive thermogenesis The regulated production of heat in response to short term environmental changes, such as stress, diet or reduced temperature.
lipid homeostasis Any process involved in the maintenance of an internal steady state of lipid within an organism or cell.
negative regulation of ATPase-coupled calcium transmembrane transporter activity Any process that stops, prevents or reduces the frequency, rate or extent of an ATPase-coupled calcium transmembrane transporter activity.
negative regulation of endoplasmic reticulum calcium ion concentration Any process that decreases the concentration of calcium ions in the endoplasmic reticulum.
tRNA methylation The posttranscriptional addition of methyl groups to specific residues in a tRNA molecule.

No homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
No homologous proteins
10 20 30 40 50 60
MGVKKKKEMQ VAALTICHQD LETLKSFADV EGKNLASLLL HCVQLTDGVS QIHYIKQIVP
70 80 90 100 110 120
LLEKADKNGM CDPTIQSCLD ILAGIYLSLS LKNPLKKVLA SSLNSLPDFF LPEAMHRFTS
130 140 150 160 170 180
RLQEELNTTD LYSYRKVTDN ISSCMENFNL GRASVNNLLK NVLHFLQKSL IEILEENRKC
190 200 210 220 230 240
AGNHIIQTQL MNDLLVGIRV SMMLVQKVQD FQGNLWKTSD SPIWQNMCGL LSIFTKVLSD
250 260 270 280 290 300
DDLLQTVQST SGLAIILFIK TMFHPSEKIP HLISSVLLRS VDCTSVPEWF MSSCRSLCCG
310 320 330 340 350 360
DISQSAVLFL CQGTLAMLDW QNGSMGRSGE ALLLDTAHVL FTLSSQIKEP TLEMFLSRIL
370 380 390 400 410 420
ASWTNSAIQV LESSSPSLTD SLNGNSSIVG RLLEYVYTHW EHPLDALRHQ TKIMFKNLLQ
430 440 450 460 470 480
MHRLTVEGAD FVPDPFFVEL TESLLRLEWH IKGKYTCLGC LVECIGVEHI LAIDKTIPSQ
490 500 510 520 530 540
ILEVMGDQSL VPYASDLLET MFRNHKSHLK SQTAESSWID QWHETWVSPL LFILCEGNLD
550 560 570 580 590 600
QKSYVIDYYL PKLLSYSPES LQYMVKILQT SIDAKTGQEQ SFPSLGSCNS RGALGALMAC
610 620 630 640 650 660
LRIARAHGHL QSATDTWENL VSDARIKQGL IHQHCQVRID TLGLLCESNR STEIVSMEEM
670 680 690 700 710 720
QWIQFFITYN LNSQSPGVRQ QICSLLKKLF CRIQESSQVL YKLEQSKSKR EPENELTKQH
730 740 750 760 770 780
PSVSLQQYKN FMSSICNSLF EALFPGSSYS TRFSALTILG SIAEVFHVPE GRIYTVYQLS
790 800 810 820 830 840
HDIDVGRFQT LMECFTSTFE DVKILAFDLL MKLSKTAVHF QDSGKLQGLF QAALELSTST
850 860 870 880 890 900
KPYDCVTASY LLNFLIWQDA LPSSLSAYLT QQVACDNGDR PAAVVERNTL MVIKCLMENL
910 920 930 940 950 960
EEEVSQAENS LLQAAAAFPM YGRVHCITGA LQKLSLNSLQ LVSEWRPVVE KLLLMSYRLS
970 980 990 1000 1010 1020
TVVSPVIQSS SPEGLIPMDT DSESASRLQM ILNEIQPRDT NDYFNQAKIL KEHDSFDMKD
1030 1040 1050 1060 1070 1080
LNASVVNIDT STEIKGKEVK TCDVTAQMVL VCCWRSMKEV ALLLGMLCQL LPMQPVPESS
1090 1100 1110 1120 1130 1140
DGLLTVEQVK EIGDYFKQHL LQSRHRGAFE LAYTGFVKLT EVLNRCPNVS LQKLPEQWLW
1150 1160 1170 1180 1190 1200
SVLEEIKCSD PSSKLCATRR SAGIPFYIQA LLASEPKKGR MDLLKITMKE LISLAGPTDD
1210 1220 1230 1240 1250 1260
IQSTVPQVHA LNILRALFRD TRLGENIIPY VADGAKAAIL GFTSPVWAVR NSSTLLFSAL
1270 1280 1290 1300 1310 1320
ITRIFGVKRA KDEHSKTNRM TGREFFSRFP ELYPFLLKQL ETVANTVDSD MGEPNRHPSM
1330 1340 1350 1360 1370 1380
FLLLLVLERL YASPMDGTSS ALSMGPFVPF IMRCGHSPVY HSREMAARAL VPFVMIDHIP
1390 1400 1410 1420 1430 1440
NTIRTLLSTL PSCTDQCFRQ NHIHGTLLQV FHLLQAYSDS KHGTNSDFQH ELTDITVCTK
1450 1460 1470 1480 1490 1500
AKLWLAKRQN PCLVTRAVYI DILFLLTCCL NRSAKDNQPV LESLGFWEEV RGIISGSELI
1510 1520 1530 1540 1550 1560
TGFPWAFKVP GLPQYLQSLT RLAIAAVWAA AAKSGERETN VPISFSQLLE SAFPEVRSLT
1570 1580 1590 1600 1610 1620
LEALLEKFLA AASGLGEKGV PPLLCNMGEK FLLLAMKENH PECFCKILKI LHCMDPGEWL
1630 1640 1650 1660 1670 1680
PQTEHCVHLT PKEFLIWTMD IASNERSEIQ SVALRLASKV ISHHMQTCVE NRELIAAELK
1690 1700 1710 1720 1730 1740
QWVQLVILSC EDHLPTESRL AVVEVLTSTT PLFLTNPHPI LELQDTLALW KCVLTLLQSE
1750 1760 1770 1780 1790 1800
EQAVRDAATE TVTTAMSQEN TCQSTEFAFC QVDASIALAL ALAVLCDLLQ QWDQLAPGLP
1810 1820 1830 1840 1850 1860
ILLGWLLGES DDLVACVESM HQVEEDYLFE KAEVNFWAET LIFVKYLCKH LFCLLSKSGW
1870 1880 1890 1900 1910 1920
RPPSPEMLCH LQRMVSEQCH LLSQFFRELP PAAEFVKTVE FTRLRIQEER TLACLRLLAF
1930 1940 1950
LEGKEGEDTL VLSVWDSYAE SRQLTLPRTE AAC