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

4 structures for Q9H583

Entry ID Method Resolution Chain Position Source
7MQ8 EM 360 A LM 1-2144 PDB
7MQ9 EM 387 A LM 1-2144 PDB
7MQA EM 270 A LM 1-2144 PDB
AF-Q9H583-F1 Predicted AlphaFoldDB

1731 variants for Q9H583

Variant ID(s) Position Change Description Diseaes Association Provenance
CA345360971
rs1266969522
2 T>K No ClinGen
TOPMed
gnomAD
CA345360967
rs1266969522
2 T>M No ClinGen
TOPMed
gnomAD
CA1472664
rs752559522
3 S>F No ClinGen
ExAC
gnomAD
CA1472663
rs767336669
5 A>P No ClinGen
ExAC
TOPMed
gnomAD
rs767336669
CA39712899
5 A>S No ClinGen
ExAC
TOPMed
gnomAD
rs759587486
CA1472662
6 Q>R No ClinGen
ExAC
gnomAD
CA345360869
rs1326422044
CA345360870
7 Q>H No ClinGen
TOPMed
gnomAD
CA345360812
rs1239162508
11 L>F No ClinGen
TOPMed
gnomAD
CA1472660
rs766048913
12 A>P No ClinGen
ExAC
gnomAD
CA1472659
rs762570268
12 A>V No ClinGen
ExAC
gnomAD
CA345360790
rs1319785407
13 L>F No ClinGen
gnomAD
CA345360791
rs1319785407
13 L>V No ClinGen
gnomAD
CA1472656
rs141053386
14 P>S No ClinGen
1000Genomes
ExAC
gnomAD
rs200735956
CA1472655
16 S>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs200735956
CA345360754
16 S>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA345360745
rs1160324871
17 D>H No ClinGen
gnomAD
rs1160324871
CA345360748
17 D>N No ClinGen
gnomAD
rs1377280217
CA345360708
20 L>F No ClinGen
TOPMed
gnomAD
rs528420179
CA345360689
21 L>F No ClinGen
1000Genomes
ExAC
gnomAD
CA345360694
rs1470087571
21 L>S No ClinGen
TOPMed
gnomAD
CA39712858
rs1038573516
22 S>F No ClinGen
TOPMed
CA1472650
rs749401605
23 R>G No ClinGen
ExAC
gnomAD
CA39712853
rs766365098
24 D>H No ClinGen
Ensembl
CA345360664
COSM1185801
rs766365098
24 D>N lung [Cosmic] No ClinGen
cosmic curated
Ensembl
rs752403855
CA1472647
25 E>G No ClinGen
ExAC
rs756410208
CA1472648
25 E>K No ClinGen
ExAC
gnomAD
CA1472645
rs754955094
26 V>F No ClinGen
ExAC
gnomAD
CA1472646
rs754955094
26 V>I No ClinGen
ExAC
gnomAD
TCGA novel 27 A>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1472644
rs751489308
28 S>F No ClinGen
ExAC
gnomAD
rs1572057871
CA345360566
32 D>A No ClinGen
Ensembl
CA345360549
rs1432663537
33 P>R No ClinGen
gnomAD
CA345360556
rs762500785
33 P>S No ClinGen
ExAC
gnomAD
CA1472642
rs762500785
33 P>T No ClinGen
ExAC
gnomAD
CA345360544
rs1346836367
34 K>E No ClinGen
gnomAD
rs1318896380
CA345360542
34 K>M No ClinGen
gnomAD
CA1472639
rs764763618
36 A>V No ClinGen
ExAC
gnomAD
rs775703547
CA1472637
37 A>V No ClinGen
ExAC
gnomAD
rs1056443114
CA39712740
38 T>A No ClinGen
TOPMed
rs939348909
CA39712727
39 I>V No ClinGen
TOPMed
gnomAD
CA1472636
rs772362857
41 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs1449499629
CA345360424
43 T>I No ClinGen
TOPMed
rs771451183
CA1472633
44 A>S No ClinGen
ExAC
TOPMed
gnomAD
rs771451183
CA345360421
44 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA345360383
rs1212442927
47 I>V No ClinGen
gnomAD
rs769857743
CA1472612
49 C>Y No ClinGen
ExAC
gnomAD
rs1233542834
CA345359745
50 T>I No ClinGen
TOPMed
rs757814368
CA1472610
54 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA1472608
rs746765386
56 L>F No ClinGen
ExAC
gnomAD
rs1416246979
CA345359549
57 G>E No ClinGen
gnomAD
CA345359519
rs1167823062
58 I>T No ClinGen
gnomAD
CA1472606
rs758253283
59 D>G No ClinGen
ExAC
rs780058062
CA1472607
59 D>N No ClinGen
ExAC
gnomAD
CA39712125
rs1025640941
60 P>H No ClinGen
TOPMed
rs1025640941
CA345359458
60 P>L No ClinGen
TOPMed
TCGA novel 60 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1472604
rs778718727
61 S>F No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 62 F>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1481382048
CA345359375
64 Q>E No ClinGen
gnomAD
CA345359382
rs1481382048
64 Q>K No ClinGen
gnomAD
rs756750583
CA1472603
65 F>S No ClinGen
ExAC
gnomAD
rs753367978
CA1472602
66 E>D No ClinGen
ExAC
gnomAD
CA1472601
rs755803997
67 A>G No ClinGen
ExAC
gnomAD
rs755803997
CA1472600
67 A>V No ClinGen
ExAC
gnomAD
CA1472599
rs199653340
68 P>L No ClinGen
1000Genomes
ExAC
gnomAD
CA345359227
rs1335520924
73 L>Q No ClinGen
gnomAD
CA39712084
rs368023463
75 K>E No ClinGen
Ensembl
rs1222164898
CA345359179
76 T>S No ClinGen
gnomAD
CA345359150
rs1460626340
79 R>* Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA345359148
rs773705501
79 R>P No ClinGen
ExAC
TOPMed
gnomAD
COSM906062
CA1472596
rs773705501
79 R>Q Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA345359130
rs1439318550
82 Q>* No ClinGen
TOPMed
CA345359129
rs1439318550
82 Q>E No ClinGen
TOPMed
CA39712071
rs935301093
86 V>I No ClinGen
TOPMed
gnomAD
CA345359060
rs1462389626
87 N>S No ClinGen
gnomAD
CA1472593
rs761927377
88 K>Q No ClinGen
ExAC
gnomAD
TCGA novel 89 Q>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1472592
rs768993090
90 L>M No ClinGen
ExAC
TOPMed
gnomAD
rs951440620
CA39712062
90 L>W No ClinGen
TOPMed
rs372793751
CA345358972
94 I>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs372793751
CA1472590
94 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA345358956
rs1408255734
95 S>A No ClinGen
gnomAD
CA345358943
rs1190325970
95 S>L No ClinGen
TOPMed
gnomAD
CA345358938
rs1452313605
96 L>V No ClinGen
gnomAD
rs374661960
CA39712040
98 L>F No ClinGen
ESP
TCGA novel 99 I>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs771832271
CA1472588
99 I>M No ClinGen
ExAC
gnomAD
TCGA novel 101 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1472587
rs745680073
102 S>L No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 103 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA39712029
rs911693962
104 Y>C No ClinGen
Ensembl
CA39712026
rs1051631805
105 F>L No ClinGen
gnomAD
CA39712019
rs757191202
105 F>L No ClinGen
ExAC
TOPMed
gnomAD
CA1472584
rs748767159
109 P>S No ClinGen
ExAC
gnomAD
TCGA novel 111 Q>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1233894712
CA345358696
111 Q>P No ClinGen
gnomAD
TCGA novel 114 L>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA345358622
rs1369090220
116 W>S No ClinGen
gnomAD
CA345358599
rs1306018489
118 I>F No ClinGen
TOPMed
gnomAD
CA1472583
rs777333597
118 I>T No ClinGen
ExAC
TOPMed
gnomAD
CA345358600
rs1306018489
118 I>V No ClinGen
TOPMed
gnomAD
rs1173952130
CA345358050
121 F>Y No ClinGen
gnomAD
rs770898106
CA1472564
124 H>Q No ClinGen
ExAC
gnomAD
CA345358018
rs1172408251
124 H>Y No ClinGen
gnomAD
CA39707855
rs1021958237
125 L>H No ClinGen
TOPMed
rs749283266
CA1472563
126 Y>C No ClinGen
ExAC
TOPMed
gnomAD
CA345357999
rs1572055437
126 Y>H No ClinGen
Ensembl
rs777703237
CA1472562
127 N>D No ClinGen
ExAC
gnomAD
CA1472561
rs544530055
127 N>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA1472560
rs146181190
128 Q>P No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs146181190
CA1472559
128 Q>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA1472558
rs754640629
129 D>H No ClinGen
ExAC
gnomAD
CA1472557
rs750792703
129 D>V No ClinGen
ExAC
TOPMed
gnomAD
CA1472556
rs779199641
130 S>C No ClinGen
ExAC
gnomAD
CA39707819
rs775516568
130 S>N No ClinGen
Ensembl
CA1472554
rs754328458
131 L>F No ClinGen
ExAC
gnomAD
CA39707806
rs1033415391
132 I>T No ClinGen
TOPMed
CA1472552
rs184646465
132 I>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA1472551
rs752767682
135 V>F No ClinGen
ExAC
gnomAD
CA345357940
rs1393905193
136 L>M No ClinGen
TOPMed
gnomAD
CA1472549
rs759744935
138 Y>C No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 140 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1472548
rs192876952
140 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs867330018
CA39707783
141 T>I No ClinGen
Ensembl
rs1420161475
CA345357902
142 R>G No ClinGen
gnomAD
rs1572055387
CA345357894
143 I>V No ClinGen
Ensembl
rs1370970789
CA345357873
146 R>* No ClinGen
gnomAD
CA1472545
rs775729831
146 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA345357870
rs1248705746
147 V>I No ClinGen
TOPMed
gnomAD
rs769748600
CA1472544
149 Q>E No ClinGen
ExAC
gnomAD
CA345357851
rs1216333595
149 Q>H No ClinGen
TOPMed
CA345357848
rs1481204799
150 L>F No ClinGen
gnomAD
TCGA novel 153 I>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1472543
rs747638987
154 N>S No ClinGen
ExAC
gnomAD
rs1006848033
CA39707735
156 S>T No ClinGen
Ensembl
rs768338113
CA1472541
157 K>E No ClinGen
ExAC
TOPMed
gnomAD
CA39707734
rs953856798
157 K>R No ClinGen
gnomAD
CA39707720
rs368148863
160 W>C No ClinGen
ESP
rs1572055350
CA345357750
162 W>* No ClinGen
Ensembl
CA345357732
rs1330550797
164 L>V No ClinGen
gnomAD
CA39707713
rs372923233
165 P>T No ClinGen
Ensembl
rs779759770
CA1472539
166 V>I No ClinGen
ExAC
gnomAD
TCGA novel 167 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA345357267
rs1239364868
168 Q>H No ClinGen
gnomAD
rs1369826717
CA345357243
171 V>M No ClinGen
gnomAD
rs887049487
CA39706959
172 P>L No ClinGen
TOPMed
gnomAD
TCGA novel 173 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1317640774
CA345357167
175 K>R No ClinGen
gnomAD
CA1472520
rs576830922
177 T>N No ClinGen
1000Genomes
ExAC
gnomAD
rs61375816
CA1472518
RCV000966791
179 I>T No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs143912188
CA1472519
179 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA345357084
rs1420498377
181 H>Y No ClinGen
gnomAD
rs749639043
CA1472516
183 Y>C No ClinGen
ExAC
gnomAD
CA1472515
rs142578249
184 K>E No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs756677371
CA1472514
184 K>R No ClinGen
ExAC
gnomAD
CA1472513
rs774665306
185 D>E No ClinGen
ExAC
TOPMed
gnomAD
rs781728054
CA1472512
188 F>L No ClinGen
ExAC
gnomAD
rs1285698557
CA345356963
189 M>V No ClinGen
gnomAD
rs1216729630
CA345356911
193 C>G No ClinGen
gnomAD
CA345356875
rs1338687092
195 L>W No ClinGen
TOPMed
CA345356871
rs1399502102
196 V>M No ClinGen
TOPMed
CA345356849
rs1333345182
197 T>R No ClinGen
TOPMed
rs751689075
CA1472510
198 K>E No ClinGen
ExAC
TOPMed
gnomAD
rs781509057
CA1472493
202 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs374840477
CA1472492
204 A>S No ClinGen
ESP
ExAC
gnomAD
rs1416808584
CA345356480
206 Y>* No ClinGen
gnomAD
CA1472491
rs747034390
206 Y>C No ClinGen
ExAC
gnomAD
COSM1197291
CA1472489
rs758481863
207 P>L lung [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA345356474
rs758481863
207 P>R No ClinGen
ExAC
TOPMed
gnomAD
rs573497694
CA1472490
207 P>S No ClinGen
1000Genomes
ExAC
gnomAD
CA39706476
rs763138915
208 G>C No ClinGen
TOPMed
CA1472487
rs765469165
208 G>D No ClinGen
ExAC
gnomAD
rs1172092585
CA345356457
209 S>N No ClinGen
gnomAD
TCGA novel 210 S>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1415075805
CA345356426
212 Q>R No ClinGen
gnomAD
TCGA novel 214 R>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1213066078
CA345356399
215 V>M No ClinGen
TOPMed
CA345356333
rs1483346033
221 A>T No ClinGen
TOPMed
gnomAD
TCGA novel 223 T>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA39706464
rs982146643
224 I>V No ClinGen
gnomAD
CA1472485
rs201547441
226 S>L No ClinGen
ExAC
TOPMed
gnomAD
CA1472483
rs760724482
227 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1452348478
CA345356250
229 V>A Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs759130190
CA1472480
229 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA345356237
rs1279263406
231 A>V No ClinGen
gnomAD
rs1572054022
CA345356216
234 V>G No ClinGen
Ensembl
rs769692131
CA1472477
234 V>I No ClinGen
ExAC
gnomAD
TCGA novel 235 S>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs911096356
CA39706429
236 D>E No ClinGen
TOPMed
CA345356206
rs1164888810
236 D>G No ClinGen
TOPMed
CA1472476
rs777098427
236 D>H No ClinGen
ExAC
TOPMed
gnomAD
rs146667999
CA1472475
237 N>D No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1166397542
CA345356200
237 N>S No ClinGen
TOPMed
gnomAD
rs371395131
CA1472473
240 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1175167841
CA345356178
240 A>V No ClinGen
gnomAD
rs1314426953
CA345356172
241 K>I No ClinGen
TOPMed
TCGA novel 242 L>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 244 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1472468
rs375951592
245 Y>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs143920214
CA345356150
245 Y>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs375951592
CA39706416
245 Y>F No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs143920214
CA1472469
245 Y>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs143920214
CA1472470
245 Y>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs375951592
CA345356149
245 Y>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs777690146
CA1472467
246 I>T No ClinGen
ExAC
gnomAD
TCGA novel 247 Q>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1361891390
CA345356093
251 K>I No ClinGen
gnomAD
rs1240577191
CA345356048
258 R>G No ClinGen
TOPMed
rs752568839
CA345356042
259 A>P No ClinGen
ExAC
gnomAD
CA1472446
rs752568839
259 A>T No ClinGen
ExAC
gnomAD
CA1472445
rs753064763
260 A>T No ClinGen
ExAC
gnomAD
rs755012043
CA1472444
261 T>A No ClinGen
ExAC
TOPMed
gnomAD
CA1472443
rs547078368
262 Y>H No ClinGen
1000Genomes
ExAC
gnomAD
rs1192733099
CA345356015
263 M>I No ClinGen
TOPMed
rs147463795
CA1472441
263 M>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1427804500
CA345356011
264 I>V No ClinGen
gnomAD
rs750046474
CA1472440
265 I>L No ClinGen
ExAC
gnomAD
CA345356000
rs1184792420
265 I>M No ClinGen
gnomAD
CA1472438
rs371280584
267 Q>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA39705973
rs201126687
267 Q>P No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs201126687
CA1472439
267 Q>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA345355975
rs1313290206
269 S>Y No ClinGen
TOPMed
gnomAD
CA345355973
rs1453115990
270 V>M No ClinGen
TOPMed
CA39705944
rs376676358
273 T>I No ClinGen
ESP
gnomAD
rs772555932
CA1472435
274 M>T No ClinGen
ExAC
TOPMed
gnomAD
CA39705936
rs776734380
281 S>L No ClinGen
Ensembl
TCGA novel 283 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs561355125
CA1472433
285 Q>H No ClinGen
1000Genomes
ExAC
gnomAD
rs770985913
CA345355858
287 I>F No ClinGen
ExAC
gnomAD
TCGA novel 287 I>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs770985913
CA1472432
287 I>V No ClinGen
ExAC
gnomAD
rs749349189
CA1472431
288 K>T No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 292 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1472430
rs773442079
292 K>R No ClinGen
ExAC
gnomAD
CA345355810
rs1325581869
294 P>S No ClinGen
TOPMed
rs1397640135
CA345355803
295 S>F No ClinGen
TOPMed
CA345355792
rs1461301698
296 L>F Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1371264176
CA345355790
297 I>V No ClinGen
gnomAD
rs1172806723
CA345355770
299 D>G No ClinGen
gnomAD
CA1472428
rs781187454
300 G>E No ClinGen
ExAC
gnomAD
CA1472427
rs781187454
300 G>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA345355754
rs1424370682
301 L>I No ClinGen
gnomAD
CA345355722
rs754958952
302 S>R No ClinGen
ExAC
gnomAD
rs1000929249
CA39705913
305 I>V No ClinGen
gnomAD
rs1258537128
CA345355663
306 V>A No ClinGen
gnomAD
CA345355660
rs1201384553
307 L>V No ClinGen
gnomAD
CA345355558
rs1332506679
313 P>L No ClinGen
TOPMed
CA345355576
rs1295088522
313 P>T No ClinGen
TOPMed
rs779883088
CA345355538
314 E>D No ClinGen
ExAC
gnomAD
rs531264378
CA1472423
315 S>R No ClinGen
1000Genomes
ExAC
gnomAD
rs1230943337
CA345355471
318 K>E No ClinGen
gnomAD
TCGA novel 319 K>= Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1472422
rs749945048
319 K>T No ClinGen
ExAC
gnomAD
rs763425291
CA1472393
323 H>L No ClinGen
ExAC
gnomAD
CA1472394
rs543299161
323 H>Y No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA1472392
rs200588560
325 C>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA39705760
rs200588560
325 C>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1558192146
CA345355215
326 N>K No ClinGen
Ensembl
CA1472391
rs557630891
326 N>S No ClinGen
1000Genomes
ExAC
gnomAD
CA1472390
rs761994088
327 V>G No ClinGen
ExAC
gnomAD
rs776956674
CA1472389
328 P>S No ClinGen
ExAC
gnomAD
TCGA novel 330 L>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1267375884
CA345355137
331 I>M No ClinGen
gnomAD
rs539204282
CA1472387
331 I>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs372195004
CA1472388
331 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs775208742
CA1472386
332 T>A No ClinGen
ExAC
TOPMed
gnomAD
CA345355127
rs1348012449
332 T>I No ClinGen
gnomAD
CA345355128
rs1348012449
332 T>K No ClinGen
gnomAD
rs1001042251
CA39705740
333 I>M No ClinGen
Ensembl
CA345355114
rs1265855377
334 L>I No ClinGen
gnomAD
rs772043034
CA1472385
335 H>N No ClinGen
ExAC
CA1472384
rs141911723
335 H>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA1472383
rs148138589
336 G>E No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA345355040
rs1301117754
340 T>A No ClinGen
gnomAD
rs143741485
CA1472380
342 D>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA1472379
rs201723577
343 V>I No ClinGen
1000Genomes
ExAC
gnomAD
rs780347148
CA1472377
345 P>R No ClinGen
ExAC
TOPMed
gnomAD
CA345354981
rs1358861245
345 P>S No ClinGen
gnomAD
CA345354970
rs1175182296
346 L>P No ClinGen
TOPMed
CA39705675
rs375413643
346 L>V No ClinGen
ESP
TOPMed
gnomAD
rs750898415
CA1472376
348 H>N No ClinGen
ExAC
TOPMed
gnomAD
rs2794751
VAR_049329
CA1472374
348 H>R No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA1472375
rs750898415
348 H>Y Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA1472373
rs761957349
349 Y>C No ClinGen
ExAC
gnomAD
rs144891600
CA39705638
CA345354939
350 M>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs144891600
CA1472372
350 M>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs764401410
CA1472371
352 P>S No ClinGen
ExAC
gnomAD
rs1264851351
CA345354891
355 V>I No ClinGen
gnomAD
CA1472369
rs775787163
356 V>I No ClinGen
ExAC
gnomAD
rs1288183613
CA345354865
357 S>C No ClinGen
TOPMed
CA345354870
rs1485157644
357 S>P No ClinGen
gnomAD
CA1472368
rs367953651
358 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA345354851
rs1220752375
359 I>V No ClinGen
gnomAD
CA1472367
RCV000909961
rs149968331
360 H>R No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA345354828
rs1269595568
361 H>R No ClinGen
gnomAD
CA345354819
rs1226772610
362 V>I No ClinGen
gnomAD
rs774231133
CA1472366
363 T>I No ClinGen
ExAC
TOPMed
gnomAD
rs1450798828
CA345353992
366 E>G No ClinGen
TOPMed
rs1378709347
CA345353974
367 T>I No ClinGen
gnomAD
CA1472353
rs566412296
370 M>I No ClinGen
1000Genomes
ExAC
gnomAD
CA39704782
rs974608655
370 M>L No ClinGen
TOPMed
gnomAD
rs1450604396
CA345353930
371 D>G No ClinGen
gnomAD
CA345353922
rs1378859379
372 G>S No ClinGen
TOPMed
rs1360149989
CA345353913
372 G>V No ClinGen
gnomAD
rs547782635
CA1472352
374 I>N No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA1472351
COSM367008
rs767810463
375 Y>C lung [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
CA1472350
rs759296237
376 K>R No ClinGen
ExAC
TOPMed
gnomAD
CA1472349
rs774178054
378 H>D No ClinGen
ExAC
gnomAD
rs765950856
CA345353813
379 L>F No ClinGen
gnomAD
COSM906055
CA345353823
rs1460526428
379 L>V Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
rs367603895
CA1472348
381 A>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs367603895
CA39704730
381 A>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA345353785
rs367603895
381 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1472347
rs762941150
382 I>V No ClinGen
ExAC
gnomAD
rs773135508
CA1472346
384 T>K No ClinGen
ExAC
TOPMed
gnomAD
CA345353761
rs773135508
384 T>R No ClinGen
ExAC
TOPMed
gnomAD
rs769123642
CA1472345
385 K>E No ClinGen
ExAC
TOPMed
gnomAD
COSM906054
rs769123642
CA39704727
385 K>Q Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA1472344
rs536011790
386 I>V No ClinGen
1000Genomes
ExAC
gnomAD
CA345353727
rs1458983144
387 S>P No ClinGen
gnomAD
rs1458983144
CA345353730
387 S>T No ClinGen
gnomAD
rs1321246913
CA345353704
388 L>P No ClinGen
gnomAD
rs1287954302
CA345353670
391 N>H No ClinGen
TOPMed
gnomAD
rs1287954302
CA345353672
391 N>Y No ClinGen
TOPMed
gnomAD
CA1472340
rs779489345
394 H>R No ClinGen
ExAC
gnomAD
rs993241928
CA39704667
397 A>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA345353584
rs1572052670
398 S>N No ClinGen
Ensembl
rs1409888736
CA345353375
399 L>I No ClinGen
TOPMed
rs1002088341
CA39703707
400 L>Q No ClinGen
TOPMed
gnomAD
rs761210681
CA1472318
402 E>G No ClinGen
ExAC
gnomAD
CA345353357
rs1157119919
402 E>K No ClinGen
TOPMed
CA1472317
rs776267298
405 I>L No ClinGen
ExAC
gnomAD
CA345353333
rs776267298
405 I>V No ClinGen
ExAC
gnomAD
CA39703692
rs868715573
406 S>L No ClinGen
Ensembl
CA1472315
rs746597368
407 Y>F No ClinGen
ExAC
gnomAD
CA39703686
rs919786919
407 Y>H No ClinGen
gnomAD
rs1304122450
CA345353286
410 Q>R No ClinGen
gnomAD
TCGA novel 413 M>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs775297342
CA1472314
414 D>G No ClinGen
ExAC
gnomAD
CA39703680
rs866515557
414 D>N No ClinGen
TOPMed
gnomAD
CA345353242
rs866515557
414 D>Y No ClinGen
TOPMed
gnomAD
CA1472313
rs771375166
415 S>C No ClinGen
ExAC
gnomAD
rs147493070
CA1472311
416 N>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA345353199
rs1301973674
417 K>N No ClinGen
gnomAD
rs1369126985
CA345353188
418 V>A No ClinGen
TOPMed
gnomAD
rs1464416005
CA345353180
419 S>Y No ClinGen
gnomAD
rs1360814041
CA345353174
420 L>V No ClinGen
gnomAD
CA345353149
rs1375961801
422 N>S No ClinGen
TOPMed
CA1472310
rs748162961
423 E>D No ClinGen
ExAC
TOPMed
gnomAD
CA345353143
rs1176770420
423 E>K No ClinGen
gnomAD
CA345353142
rs1176770420
423 E>Q No ClinGen
gnomAD
rs78786861
CA1472308
424 Q>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA1472306
rs751719289
425 F>L No ClinGen
ExAC
CA1472305
rs766607585
426 L>P No ClinGen
ExAC
gnomAD
rs750285319
CA1472303
427 P>Q No ClinGen
ExAC
CA345353077
rs758146296
427 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs758146296
CA1472304
427 P>T No ClinGen
ExAC
TOPMed
gnomAD
CA345353070
rs1200224208
428 L>F No ClinGen
gnomAD
CA1472302
rs765074918
428 L>P No ClinGen
ExAC
TOPMed
gnomAD
CA39703646
rs200417112
430 R>K No ClinGen
gnomAD
rs2564739
CA345353041
430 R>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs760284774
CA1472298
434 S>R No ClinGen
ExAC
gnomAD
CA345352985
rs1340740506
435 K>E No ClinGen
gnomAD
CA1472297
rs574501045
435 K>R No ClinGen
1000Genomes
ExAC
gnomAD
CA529509110
rs1164601505
436 Y>* No ClinGen
gnomAD
rs1370421225
CA345352936
436 Y>H No ClinGen
gnomAD
CA1472280
rs764158257
439 T>A No ClinGen
ExAC
gnomAD
rs760233592
CA1472279
439 T>I No ClinGen
ExAC
gnomAD
rs764158257
CA345352900
439 T>P No ClinGen
ExAC
gnomAD
CA39703415
rs547451139
440 L>F No ClinGen
Ensembl
rs1429021278
CA345352882
441 D>G No ClinGen
TOPMed
TCGA novel 442 V>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs956227797
CA39703413
442 V>I No ClinGen
TOPMed
CA1472278
rs752305136
443 V>L No ClinGen
ExAC
gnomAD
CA345352765
rs1220395794
449 K>R No ClinGen
TOPMed
gnomAD
rs1311221867
CA345352750
451 I>T No ClinGen
gnomAD
rs375930921
CA1472273
451 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs777080330
CA1472272
452 A>V No ClinGen
ExAC
gnomAD
CA39703393
rs10925169
454 L>M No ClinGen
gnomAD
CA345352720
rs1393129357
456 K>E No ClinGen
gnomAD
CA345352709
rs201708653
457 Q>E No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA1472270
rs201708653
457 Q>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs112914610
CA345352680
459 L>F No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA1472269
rs112914610
RCV000905068
459 L>I No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA1472267
rs746047994
461 H>Y Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs779027115
CA1472266
462 Q>R No ClinGen
ExAC
gnomAD
CA1472265
rs150934078
463 F>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs753618231
CA1472264
466 L>F No ClinGen
ExAC
gnomAD
CA345352545
rs1269110885
467 S>C No ClinGen
gnomAD
CA1472262
rs376042124
468 T>A No ClinGen
ESP
ExAC
gnomAD
rs752249631
CA1472261
468 T>I No ClinGen
ExAC
gnomAD
rs376042124
CA1472263
468 T>S No ClinGen
ESP
ExAC
gnomAD
CA345352532
rs1287819556
469 S>G No ClinGen
TOPMed
gnomAD
rs1217068496
CA345352522
469 S>R No ClinGen
gnomAD
rs1273063955
CA345352454
474 Q>R No ClinGen
gnomAD
rs748040521
CA1472240
480 D>G No ClinGen
ExAC
gnomAD
TCGA novel 482 S>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs148909192
CA1472239
485 L>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1182704457
CA345351755
487 L>V No ClinGen
TOPMed
gnomAD
rs765149081
CA39702727
490 P>L No ClinGen
Ensembl
CA345351679
rs1332631858
491 L>P No ClinGen
gnomAD
CA39702723
rs1031172450
492 A>D No ClinGen
TOPMed
gnomAD
rs144502500
CA1472238
492 A>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA345351671
rs1031172450
492 A>V No ClinGen
TOPMed
gnomAD
rs753474949
CA1472236
493 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs753474949
CA1472237
493 P>R No ClinGen
ExAC
TOPMed
gnomAD
rs1456325073
CA345351659
494 V>M No ClinGen
TOPMed
rs1162496214
CA345351636
496 I>N No ClinGen
TOPMed
CA1472233
rs764388654
499 M>I No ClinGen
ExAC
gnomAD
CA1472234
rs202190512
499 M>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1472279920
CA345351537
501 H>R No ClinGen
gnomAD
CA39702708
rs1039867640
504 K>E No ClinGen
Ensembl
rs775937506
CA1472231
504 K>M No ClinGen
ExAC
gnomAD
rs1461662799
CA345351448
504 K>N No ClinGen
gnomAD
CA345351454
rs775937506
504 K>R No ClinGen
ExAC
gnomAD
rs904090648
CA39702706
505 I>V No ClinGen
TOPMed
CA345351415
rs1198078552
506 M>V No ClinGen
gnomAD
CA1472229
rs759640931
509 S>L No ClinGen
ExAC
gnomAD
rs771178359
CA1472227
510 K>E No ClinGen
ExAC
gnomAD
TCGA novel 511 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1472201
rs770177219
512 G>D No ClinGen
ExAC
TOPMed
gnomAD
rs376890423
CA1472202
512 G>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA345350656
rs1156624519
513 V>I No ClinGen
gnomAD
rs1214469139
CA345350636
515 E>Q No ClinGen
TOPMed
rs374469202
CA39701282
516 S>P No ClinGen
Ensembl
rs907267379
CA39701269
517 F>C No ClinGen
TOPMed
rs1391031431
CA345350603
518 I>V No ClinGen
TOPMed
gnomAD
TCGA novel 519 K>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs777699259
CA345350581
520 E>K No ClinGen
TOPMed
CA345350583
rs777699259
520 E>Q No ClinGen
TOPMed
CA345350571
rs1408711550
521 A>T No ClinGen
TOPMed
gnomAD
rs999439577
CA39701264
522 V>G No ClinGen
Ensembl
rs1470411902
CA345350560
522 V>I No ClinGen
TOPMed
CA39701261
rs867493254
524 A>V No ClinGen
Ensembl
rs372480318
CA1472199
525 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA39701258
rs539775783
529 D>A No ClinGen
1000Genomes
rs768505125
CA1472198
529 D>N No ClinGen
ExAC
gnomAD
rs746866917
CA1472196
531 I>T No ClinGen
ExAC
gnomAD
CA345350465
rs1410513432
531 I>V Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA1472195
rs142765787
532 D>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs200359420
CA1472194
533 V>I No ClinGen
1000Genomes
ExAC
gnomAD
rs1218110659
CA345350430
536 S>L No ClinGen
gnomAD
rs1284690036
CA345350429
537 A>T No ClinGen
gnomAD
CA1472190
rs149485004
CA345350423
538 I>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
COSM1501679
rs149485004
CA1472189
538 I>V lung [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
rs755382653
CA1472188
541 F>S No ClinGen
ExAC
TOPMed
gnomAD
rs79889770
CA39701216
542 E>* No ClinGen
Ensembl
CA345350395
rs1455204439
542 E>G No ClinGen
TOPMed
gnomAD
rs750524140
CA1472165
543 I>T No ClinGen
ExAC
TOPMed
gnomAD
rs1464866866
CA345350376
543 I>V No ClinGen
TOPMed
CA1472163
rs367739362
547 H>Q No ClinGen
ESP
ExAC
gnomAD
COSM3689450
rs1431845727
CA345350343
547 H>R large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
CA345350335
rs1203718161
548 F>L No ClinGen
gnomAD
CA1472162
rs753971634
548 F>Y No ClinGen
ExAC
gnomAD
rs113875116
CA39700903
551 E>K No ClinGen
Ensembl
rs1316812594
CA345350308
552 V>A No ClinGen
gnomAD
CA1472161
rs756878800
553 T>M No ClinGen
ExAC
TOPMed
gnomAD
CA345350293
rs1367473871
555 S>P No ClinGen
TOPMed
gnomAD
CA1472158
rs547940210
556 N>D No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs547940210
CA345350288
556 N>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1440971975
CA345350284
556 N>K No ClinGen
TOPMed
CA1472157
rs145749709
556 N>S No ClinGen
1000Genomes
ExAC
gnomAD
rs140131566
CA1472156
557 L>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA345350277
rs1337353679
558 L>M No ClinGen
gnomAD
rs1337353679
CA345350276
558 L>V No ClinGen
gnomAD
rs1453439911
CA345350249
562 Q>E No ClinGen
gnomAD
CA1472153
rs772707877
562 Q>H No ClinGen
ExAC
gnomAD
CA1472154
rs748860670
562 Q>R No ClinGen
ExAC
gnomAD
CA1472152
rs143731772
564 A>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA345350218
rs1572049062
567 S>T No ClinGen
Ensembl
CA345350200
rs1386061997
569 N>S No ClinGen
TOPMed
CA1472151
rs56242514
570 G>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA345350187
rs1164518130
571 E>G No ClinGen
gnomAD
rs749324042
CA1472125
COSM161478
574 E>K breast [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA39700323
rs755382938
575 V>L No ClinGen
gnomAD
CA345350027
COSM3977229
rs1558189046
578 I>V lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
Ensembl
NCI-TCGA
rs1387819319
CA345350008
579 A>V No ClinGen
TOPMed
rs60920266
CA1472123
580 A>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 581 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA345349988
rs1388367604
582 I>V No ClinGen
TOPMed
rs1300716566
CA345349973
584 I>V No ClinGen
gnomAD
TCGA novel 586 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs368628396
CA1472119
588 I>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs766208942
CA1472118
594 Q>P No ClinGen
ExAC
TOPMed
gnomAD
CA1472117
rs766208942
594 Q>R No ClinGen
ExAC
TOPMed
gnomAD
rs763010853
CA1472116
597 N>D No ClinGen
ExAC
TOPMed
gnomAD
CA1472115
rs542127174
598 Q>R No ClinGen
1000Genomes
ExAC
gnomAD
rs764744234
CA1472114
599 V>L No ClinGen
ExAC
rs1052896128
CA39700274
600 V>A No ClinGen
TOPMed
CA1472113
rs574745592
600 V>I No ClinGen
1000Genomes
ExAC
gnomAD
rs1037928329
CA39700263
601 V>I No ClinGen
TOPMed
gnomAD
rs759970054
CA1472110
602 C>S No ClinGen
ExAC
TOPMed
gnomAD
CA345349851
rs1286114741
602 C>Y No ClinGen
gnomAD
CA39700254
rs943902812
606 F>Y No ClinGen
Ensembl
rs2794763
CA345349821
607 M>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs2794763
CA1472109
VAR_049330
607 M>V No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA345349806
rs1255429441
609 I>V No ClinGen
gnomAD
rs549697437
CA1472108
610 N>S No ClinGen
1000Genomes
ExAC
gnomAD
CA345349785
rs1553284527
612 D>H No ClinGen
Ensembl
CA1472106
rs1553284527
612 D>N No ClinGen
Ensembl
rs1483791970
CA345349781
612 D>V No ClinGen
TOPMed
CA39700244
rs1049503654
614 T>A No ClinGen
TOPMed
rs141140258
CA1472105
614 T>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs769876017
CA1472103
615 E>Q No ClinGen
ExAC
gnomAD
rs1402132704
CA345349740
618 E>D No ClinGen
TOPMed
gnomAD
rs188429321
CA1472102
618 E>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA345349735
rs1311564088
619 M>K No ClinGen
TOPMed
CA345349734
rs1311564088
619 M>T No ClinGen
TOPMed
rs781365715
CA1472101
620 K>R No ClinGen
ExAC
TOPMed
gnomAD
CA345349721
rs1572048448
621 I>V No ClinGen
Ensembl
rs1429530921
CA345349715
622 A>T No ClinGen
gnomAD
CA345349703
rs1371406799
623 I>M No ClinGen
TOPMed
CA1472099
rs138177334
627 K>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1243566907
CA345349679
627 K>T No ClinGen
gnomAD
rs758139252
CA1472097
631 C>G No ClinGen
ExAC
gnomAD
CA1472096
rs750336767
632 S>C No ClinGen
ExAC
gnomAD
CA345349644
rs750336767
632 S>F No ClinGen
ExAC
gnomAD
rs936496104
CA39700225
634 H>Q No ClinGen
TOPMed
gnomAD
rs1201819590
CA345349635
634 H>Y No ClinGen
TOPMed
gnomAD
CA1472095
rs765128251
635 P>L No ClinGen
ExAC
gnomAD
TCGA novel 635 P>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs765143633
CA39700210
641 E>K No ClinGen
TOPMed
gnomAD
rs555144272
CA39700194
642 E>* No ClinGen
Ensembl
rs939728257
CA39700006
643 A>V No ClinGen
Ensembl
rs753834969
CA1472073
647 V>A No ClinGen
ExAC
gnomAD
TCGA novel 648 I>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA345349404
rs1165241484
648 I>V No ClinGen
TOPMed
gnomAD
CA1472072
rs370681768
649 K>R No ClinGen
ESP
ExAC
gnomAD
rs755711214
CA1472071
651 T>P No ClinGen
ExAC
rs1350872342
CA345349331
653 P>L No ClinGen
TOPMed
CA1472069
rs767113628
658 G>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA345349258
rs1205440856
659 V>A No ClinGen
gnomAD
rs763351260
CA1472068
660 A>T No ClinGen
ExAC
gnomAD
rs1228473777
CA345349242
661 N>D No ClinGen
TOPMed
rs1228473777
CA345349243
661 N>H No ClinGen
TOPMed
CA1472067
rs773502970
664 M>L No ClinGen
ExAC
gnomAD
rs773502970
CA345349197
664 M>V No ClinGen
ExAC
gnomAD
rs765724810
CA1472066
665 I>F No ClinGen
ExAC
gnomAD
rs1221551348
CA345349157
667 L>M No ClinGen
TOPMed
gnomAD
rs560970846
CA39699946
669 A>T No ClinGen
Ensembl
TCGA novel 670 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1472064
rs527740697
671 N>S No ClinGen
1000Genomes
ExAC
TOPMed
rs1374812250
CA345349069
673 N>S No ClinGen
gnomAD
rs747100163
CA1472062
676 D>A No ClinGen
ExAC
rs1488980962
CA345349019
677 P>T No ClinGen
gnomAD
CA1472058
CA1472059
rs778787258
680 M>I No ClinGen
ExAC
gnomAD
rs376159886
CA1472061
680 M>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA1472060
rs376159886
680 M>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs41308194
RCV000887955
CA1472056
681 L>V No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs777890759
CA1472055
682 K>E No ClinGen
ExAC
gnomAD
rs980188884
CA39699878
682 K>N No ClinGen
Ensembl
TCGA novel 685 E>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1572047798
CA345348812
686 D>N No ClinGen
Ensembl
CA345348786
rs1006456
687 L>F No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 687 L>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1261387910
CA345348779
688 I>R No ClinGen
TOPMed
gnomAD
CA345348775
rs1185152791
689 S>G No ClinGen
TOPMed
gnomAD
rs1487127179
CA345348769
689 S>T No ClinGen
gnomAD
rs111453499
CA1472029
690 V>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1472028
rs111453499
690 V>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 691 G>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA39699470
rs956931200
692 E>G No ClinGen
TOPMed
CA345348744
rs1459555716
693 E>G No ClinGen
gnomAD
rs1264495958
CA345348738
694 E>* No ClinGen
TOPMed
gnomAD
rs1223680249
CA345348736
694 E>A No ClinGen
TOPMed
gnomAD
CA345348733
rs1306579157
694 E>D No ClinGen
gnomAD
rs886750644
CA39699464
695 S>P No ClinGen
Ensembl
CA1472023
rs767450820
697 N>K No ClinGen
ExAC
gnomAD
rs200590400
CA1472024
697 N>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA345348712
rs1250227751
698 L>V No ClinGen
TOPMed
CA1472022
rs759695973
699 K>E No ClinGen
ExAC
gnomAD
CA1472021
rs774685885
699 K>R No ClinGen
ExAC
gnomAD
CA345348701
rs1466691963
700 Q>E No ClinGen
gnomAD
rs771325790
CA1472020
702 V>I No ClinGen
ExAC
gnomAD
CA1472018
rs374353213
COSM906051
703 T>M Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs374353213
CA1472019
703 T>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1472016
rs747976958
705 H>R No ClinGen
ExAC
gnomAD
CA345348655
rs1012278529
707 I>F No ClinGen
TOPMed
gnomAD
CA39699374
rs1012278529
707 I>V No ClinGen
TOPMed
gnomAD
rs781210802
CA1472015
708 L>V No ClinGen
ExAC
gnomAD
CA345348645
rs1391030530
709 S>P No ClinGen
TOPMed
CA345348636
rs1244388471
710 V>A No ClinGen
gnomAD
rs746559932
CA1472013
712 V>I No ClinGen
ExAC
gnomAD
rs376992643
CA1472011
713 S>C No ClinGen
ESP
ExAC
gnomAD
rs199564595
CA1472010
714 C>Y No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA1472007
rs756526983
717 S>Y No ClinGen
ExAC
gnomAD
COSM106750
CA39699313
rs145377606
720 E>K skin [Cosmic] No ClinGen
cosmic curated
Ensembl
rs1396740219
CA345348567
721 T>N No ClinGen
TOPMed
gnomAD
CA345348560
rs1296713557
722 H>R No ClinGen
gnomAD
rs202037998
CA1472004
723 F>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs766701060
CA1472002
724 P>L No ClinGen
ExAC
gnomAD
rs150874819
CA1472001
725 F>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA345348526
rs1418054710
727 I>M No ClinGen
gnomAD
CA1471999
rs140350692
RCV000906233
727 I>T No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs761698721
CA1471998
728 R>G No ClinGen
ExAC
gnomAD
rs1178534317
CA345348521
728 R>S No ClinGen
gnomAD
rs878979005
CA39699285
729 V>I No ClinGen
Ensembl
CA1471997
rs373793253
730 F>L No ClinGen
ESP
ExAC
gnomAD
CA39699284
rs975367128
730 F>L No ClinGen
Ensembl
CA345348500
rs1220051176
732 L>M No ClinGen
gnomAD
rs1361493176
CA345348497
732 L>S No ClinGen
gnomAD
rs768685835
CA1471996
734 Q>H No ClinGen
ExAC
gnomAD
rs1245581812
CA345348478
735 K>E No ClinGen
gnomAD
CA39699277
rs867230417
735 K>N No ClinGen
Ensembl
CA345348468
rs1335193309
736 K>R No ClinGen
gnomAD
rs1257881359
CA345348462
737 I>L No ClinGen
TOPMed
gnomAD
TCGA novel 737 I>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs556876977
CA1471994
738 K>Q No ClinGen
1000Genomes
ExAC
gnomAD
CA1471993
rs137889824
739 K>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs745478013
CA1471991
742 S>I No ClinGen
ExAC
gnomAD
CA1471990
rs141347838
743 V>A No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs577915974
CA1471989
744 I>F No ClinGen
1000Genomes
ExAC
gnomAD
rs1361485707
CA345348415
744 I>T No ClinGen
gnomAD
CA345348406
rs1160673123
745 T>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
TCGA novel 745 T>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1472706235
CA345348399
747 V>M No ClinGen
TOPMed
gnomAD
rs895039767
CA39759312
749 I>F No ClinGen
gnomAD
rs895039767
CA345373147
749 I>V No ClinGen
gnomAD
rs773856156
CA1471972
754 H>L No ClinGen
ExAC
gnomAD
TCGA novel 754 H>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA345373105
rs770677548
COSM1738474
755 I>F haematopoietic_and_lymphoid_tissue [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
CA1471970
rs748453232
755 I>M No ClinGen
ExAC
gnomAD
CA1471971
rs770677548
755 I>V No ClinGen
ExAC
gnomAD
rs1465364915
CA345373082
758 M>I No ClinGen
gnomAD
CA345373086
rs1357754742
758 M>L No ClinGen
TOPMed
rs781550957
CA1471969
758 M>T No ClinGen
ExAC
gnomAD
CA39759283
rs1000648669
761 R>G No ClinGen
Ensembl
rs149323115
CA39759269
763 I>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA345373049
rs1289073109
763 I>T No ClinGen
TOPMed
rs928302063
CA39759257
764 P>S No ClinGen
TOPMed
rs1275797541
CA345373038
765 V>A No ClinGen
gnomAD
CA345373026
rs1325163516
767 L>P No ClinGen
gnomAD
rs1436491259
CA345373023
768 W>R No ClinGen
gnomAD
rs933088417
CA39759249
768 W>S No ClinGen
TOPMed
CA1471963
rs778988401
770 H>D No ClinGen
ExAC
gnomAD
CA345373005
rs1298971377
770 H>R No ClinGen
TOPMed
rs145047352
CA1471961
771 Y>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs145047352
CA345372999
771 Y>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs553495718
CA1471962
771 Y>H No ClinGen
1000Genomes
ExAC
gnomAD
CA1471960
rs763828193
774 E>G No ClinGen
ExAC
gnomAD
rs752604734
CA1471958
776 N>K No ClinGen
ExAC
gnomAD
rs1374608694
CA345372961
777 S>G No ClinGen
gnomAD
CA345372953
rs1261524292
778 T>A No ClinGen
TOPMed
CA345372949
rs1489314500
778 T>I No ClinGen
TOPMed
CA345372947
rs1214468369
779 Q>E No ClinGen
TOPMed
TCGA novel 779 Q>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1471956
rs528453790
781 V>E Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA345372928
rs1558187653
782 A>T No ClinGen
Ensembl
CA1471954
rs148574750
783 V>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1471953
rs762603899
785 D>E No ClinGen
ExAC
TOPMed
gnomAD
CA1471952
rs200168702
786 S>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA345372895
rs1298179595
787 V>F No ClinGen
Ensembl
rs145813934
CA1471951
790 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs145813934
CA345372877
CA345372876
790 V>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1471949
rs780682035
793 L>F No ClinGen
ExAC
TOPMed
gnomAD
CA345372851
rs1312276290
794 K>E No ClinGen
TOPMed
gnomAD
CA39759185
rs931431219
795 K>I No ClinGen
Ensembl
TCGA novel 795 K>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1471946
rs778995015
796 F>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 796 F>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs746366377
CA1471947
796 F>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs975652070
CA39759154
797 I>T No ClinGen
TOPMed
gnomAD
CA39759170
rs1027247087
797 I>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs757307538
COSM3705655
CA1471945
799 A>V liver [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA1471944
rs754053380
800 L>P No ClinGen
ExAC
TOPMed
gnomAD
rs1181797531
CA345372797
802 A>G No ClinGen
TOPMed
gnomAD
CA39759128
rs200192326
804 K>I No ClinGen
ExAC
TOPMed
CA1471943
rs200192326
804 K>T No ClinGen
ExAC
TOPMed
rs755885940
CA1471942
805 S>C No ClinGen
ExAC
TOPMed
gnomAD
rs755885940
CA39759106
805 S>Y No ClinGen
ExAC
TOPMed
gnomAD
CA1471940
rs767441332
806 F>S No ClinGen
ExAC
gnomAD
CA345372767
rs1206406771
807 P>L No ClinGen
gnomAD
rs1277198658
CA345372770
807 P>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs749461466
CA1471920
811 I>L No ClinGen
ExAC
gnomAD
CA345372730
rs751470101
811 I>R No ClinGen
ExAC
gnomAD
CA1471919
rs751470101
811 I>T No ClinGen
ExAC
gnomAD
rs749461466
CA39758900
811 I>V No ClinGen
ExAC
gnomAD
rs757902623
CA345372728
CA1471917
812 W>R No ClinGen
ExAC
gnomAD
rs1437031937
CA345372717
813 W>* No ClinGen
gnomAD
rs1397930270
CA345372720
813 W>R No ClinGen
TOPMed
rs200554151
CA1471915
824 D>E No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA345372636
rs1317692793
824 D>H No ClinGen
TOPMed
gnomAD
rs761501312
CA1471914
825 Y>C No ClinGen
ExAC
TOPMed
gnomAD
CA1471913
rs776445716
827 H>Q No ClinGen
ExAC
gnomAD
rs1480235985
CA345372603
829 L>V No ClinGen
gnomAD
rs1282543751
CA345372596
830 I>F No ClinGen
TOPMed
CA1471911
rs759860055
830 I>T No ClinGen
ExAC
TOPMed
gnomAD
rs774903242
CA1471910
831 G>R No ClinGen
ExAC
gnomAD
CA1471909
rs370893770
833 F>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 834 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs368009730
CA1471908
835 M>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1230488285
CA345372565
835 M>L Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA345372566
rs1230488285
835 M>V No ClinGen
TOPMed
rs1465821964
CA345372550
837 L>F No ClinGen
gnomAD
rs147175308
CA1471907
838 N>D No ClinGen
ESP
ExAC
gnomAD
CA1471906
rs374427656
838 N>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1471905
rs748315794
839 G>S No ClinGen
ExAC
gnomAD
rs781420901
CA1471904
840 A>V No ClinGen
ExAC
gnomAD
CA1471902
rs746827890
841 D>G No ClinGen
ExAC
TOPMed
gnomAD
CA1471903
rs370263527
841 D>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1321316442
CA345372512
843 V>A No ClinGen
gnomAD
rs139503389
CA39758797
844 H>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1322112633
CA345372508
844 H>R No ClinGen
TOPMed
gnomAD
rs139503389
CA1471900
844 H>Y No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA345372471
rs1553284088
849 M>I No ClinGen
Ensembl
rs1572045999
CA345372449
852 F>L No ClinGen
Ensembl
rs1357712835
CA345372453
852 F>L No ClinGen
gnomAD
CA1471899
rs750389344
853 I>M No ClinGen
ExAC
gnomAD
CA345372416
rs1412121353
855 V>G No ClinGen
gnomAD
rs1306554368
CA345372419
855 V>L No ClinGen
gnomAD
CA345372398
rs1214250136
858 E>G No ClinGen
TOPMed
rs1163462597
CA345372370
862 Q>* No ClinGen
gnomAD
rs1260565749
CA345372356
864 F>L No ClinGen
TOPMed
rs752410401
CA1471868
864 F>L No ClinGen
ExAC
gnomAD
CA39757743
rs943144674
865 K>T No ClinGen
TOPMed
gnomAD
CA1471867
rs766599773
866 F>L No ClinGen
ExAC
gnomAD
rs766599773
CA345372342
866 F>V No ClinGen
ExAC
gnomAD
rs763334492
CA1471866
869 V>I No ClinGen
ExAC
gnomAD
rs765778239
CA1471864
870 L>F No ClinGen
ExAC
rs369564820
CA1471863
872 T>S No ClinGen
ESP
ExAC
gnomAD
rs776639028
CA1471862
873 Y>C No ClinGen
ExAC
gnomAD
rs760750212
CA1471860
880 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA1471861
rs201241450
880 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs1245697995
CA345372245
881 L>V No ClinGen
TOPMed
gnomAD
CA1471858
rs147383856
884 S>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA1471856
rs375206460
885 V>M No ClinGen
ESP
ExAC
gnomAD
CA39757672
rs994861000
886 K>E No ClinGen
Ensembl
CA1471855
rs771062009
887 T>R No ClinGen
ExAC
gnomAD
rs1393602833
CA345372199
888 V>L No ClinGen
gnomAD
CA345372189
rs1417304159
890 Q>E No ClinGen
TOPMed
CA345372157
rs1350260822
894 L>R No ClinGen
TOPMed
rs1428266533
CA345372116
900 M>I No ClinGen
gnomAD
CA1471851
rs752248066
900 M>V No ClinGen
ExAC
TOPMed
gnomAD
CA345372110
rs1196551815
901 L>P No ClinGen
gnomAD
TCGA novel 903 S>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA39757630
rs767087161
903 S>C No ClinGen
Ensembl
rs750843509
CA1471848
907 Q>R No ClinGen
ExAC
gnomAD
CA345372063
rs1485562499
908 C>F No ClinGen
gnomAD
rs1558186768
CA345372042
911 Q>E No ClinGen
Ensembl
rs765726863
CA1471847
911 Q>P No ClinGen
ExAC
gnomAD
CA345372031
rs1330151312
913 A>T No ClinGen
gnomAD
CA345372025
rs1283040331
914 S>P No ClinGen
gnomAD
CA1471845
rs752020178
915 I>L No ClinGen
ExAC
gnomAD
CA39757616
rs752020178
915 I>V No ClinGen
ExAC
gnomAD
CA345372011
rs1333314953
916 S>C No ClinGen
TOPMed
gnomAD
rs940469809
CA39757608
917 S>P No ClinGen
TOPMed
CA1471844
rs764041923
917 S>Y Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1415826685
CA345371966
922 S>Y No ClinGen
gnomAD
CA345371939
rs1572042657
926 N>T No ClinGen
Ensembl
rs150389618
CA1471824
929 S>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA345371913
rs1294243318
930 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs756136936
CA1471822
930 P>S No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 931 V>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs374645333
CA1471820
931 V>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA1471819
rs759778339
932 K>E No ClinGen
ExAC
TOPMed
gnomAD
CA345371884
rs1237006144
935 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1185603876
CA345371882
935 R>H No ClinGen
gnomAD
TCGA novel 937 A>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1471818
rs766233566
COSM464191
CA1471817
940 Q>H Variant assessed as Somatic; 0.0 impact. kidney [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA39753735
rs1040389283
940 Q>L No ClinGen
TOPMed
rs1007156255
CA39753690
944 A>G No ClinGen
TOPMed
CA1471813
rs747606599
945 L>V No ClinGen
ExAC
gnomAD
CA1471811
rs111564783
RCV000953017
946 S>G No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA345371812
rs1354957777
946 S>R No ClinGen
gnomAD
rs779722182
CA1471809
947 G>E No ClinGen
ExAC
gnomAD
rs372365051
CA1471810
947 G>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA39753656
rs761816782
949 A>T No ClinGen
Ensembl
rs150392772
CA1471805
COSM1340361
951 P>L Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs150392772
CA1471806
951 P>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA1471807
rs749721725
951 P>S No ClinGen
ExAC
gnomAD
CA1471803
rs368605325
953 Y>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1169102935
CA345371777
953 Y>H No ClinGen
gnomAD
CA345371769
rs1473893386
954 L>Q No ClinGen
gnomAD
CA1471801
rs766753791
955 I>L No ClinGen
ExAC
TOPMed
gnomAD
rs766753791
CA1471800
955 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA39753593
rs1055044456
956 I>M No ClinGen
Ensembl
CA39753599
rs896595716
956 I>T No ClinGen
gnomAD
CA345371760
rs1181882448
956 I>V No ClinGen
TOPMed
gnomAD
rs16833953
VAR_049331
CA1471799
957 D>G No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA345371749
rs144454146
958 H>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA345371747
rs1409736793
958 H>R No ClinGen
gnomAD
CA1471798
COSM226495
rs144454146
958 H>Y skin [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
CA1471797
rs764943663
959 L>W No ClinGen
ExAC
gnomAD
rs761751615
CA1471796
961 S>T No ClinGen
ExAC
gnomAD
CA345371723
rs1229579517
962 K>E No ClinGen
gnomAD
CA345371706
rs1221082885
964 E>G No ClinGen
TOPMed
CA39753523
rs925192148
965 E>D No ClinGen
Ensembl
CA1471794
rs768114304
965 E>K No ClinGen
ExAC
gnomAD
CA345371694
rs1558185030
966 I>F No ClinGen
Ensembl
rs760228304
CA1471792
966 I>M No ClinGen
ExAC
gnomAD
rs1352026682
CA345371688
967 T>P No ClinGen
gnomAD
rs375239299
CA1471791
968 S>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs150596810
CA1471789
969 D>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA345371679
rs141424510
969 D>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA1471790
rs141424510
969 D>N No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA345371673
rs1401650215
970 A>T No ClinGen
gnomAD
CA345371668
rs1321635502
970 A>V No ClinGen
gnomAD
CA1471788
rs200043693
972 Y>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs770080121
CA1471787
974 I>S No ClinGen
ExAC
TOPMed
gnomAD
CA345371636
rs1158652841
975 Q>H No ClinGen
TOPMed
gnomAD
CA345371600
rs1572042328
979 T>A No ClinGen
Ensembl
rs1310174969
CA345371564
984 L>I No ClinGen
gnomAD
rs781760286
CA1471767
985 Q>E No ClinGen
ExAC
rs1280477369
CA345371554
985 Q>H No ClinGen
gnomAD
TCGA novel 985 Q>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1471766
rs769350794
988 K>E No ClinGen
ExAC
TOPMed
gnomAD
rs1296928197
CA345371522
990 L>M No ClinGen
gnomAD
CA345371501
rs1367472177
993 H>Y Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs780122575
CA1471764
999 T>S No ClinGen
ExAC
gnomAD
rs1178758037
CA345371434
COSM1601952
1002 N>S liver [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
rs758428014
CA1471763
1004 L>F No ClinGen
ExAC
gnomAD
CA1471762
rs750617675
1004 L>P No ClinGen
ExAC
gnomAD
rs779043626
CA1471761
1005 S>I No ClinGen
ExAC
TOPMed
gnomAD
rs779043626
CA39753145
1005 S>T No ClinGen
ExAC
TOPMed
gnomAD
rs1245609152
CA345371410
1006 C>Y No ClinGen
TOPMed
CA345371390
rs1201810877
1009 S>G No ClinGen
gnomAD
rs753700598
CA345371374
1011 P>A No ClinGen
ExAC
TOPMed
gnomAD
CA1471759
rs753700598
1011 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs1482078598
CA345371369
1012 S>P No ClinGen
gnomAD
rs1210607875
CA345371328
1017 D>E No ClinGen
TOPMed
gnomAD
TCGA novel 1017 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA345371330
rs1345350045
1017 D>V No ClinGen
gnomAD
rs760549674
CA1471757
1018 L>W No ClinGen
ExAC
gnomAD
CA1471756
rs752601785
1019 M>V No ClinGen
ExAC
TOPMed
gnomAD
CA345371312
rs1558184818
1020 K>E No ClinGen
Ensembl
CA345371300
rs1228095127
1021 V>A No ClinGen
gnomAD
rs1230563705
CA345371305
1021 V>I No ClinGen
gnomAD
rs1344332024
CA345371296
1022 L>H No ClinGen
gnomAD
rs138072030
CA1471755
1026 N>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs202082960
CA39753076
1026 N>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs202082960
CA1471754
1026 N>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA1471752
rs766001824
1027 G>S No ClinGen
ExAC
TOPMed
gnomAD
rs1419565952
CA345371226
1031 L>I No ClinGen
gnomAD
rs1208009274
CA345371195
1036 P>A No ClinGen
gnomAD
CA345371192
rs200561440
1036 P>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA1471730
rs200561440
1036 P>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs776042549
CA1471727
1037 M>I No ClinGen
ExAC
gnomAD
rs760985649
CA1471728
1037 M>T No ClinGen
ExAC
TOPMed
gnomAD
rs764511876
CA1471729
1037 M>V No ClinGen
ExAC
TOPMed
gnomAD
CA345371180
rs1325834649
1038 A>V No ClinGen
TOPMed
rs772521784
CA1471726
1039 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA1471725
rs116166233
1040 Q>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA345371168
rs116166233
1040 Q>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1342642340
CA345371161
1041 L>R No ClinGen
TOPMed
TCGA novel 1043 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA345371145
rs1209817596
1044 K>* No ClinGen
TOPMed
rs771023803
CA1471723
1044 K>N No ClinGen
ExAC
gnomAD
CA1471722
rs148105576
1046 Q>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA39751880
rs894632494
1046 Q>R No ClinGen
TOPMed
gnomAD
rs1218967730
CA345371126
1047 K>E No ClinGen
TOPMed
CA39751876
rs867224313
1048 E>D No ClinGen
Ensembl
rs1558184403
CA345371119
1048 E>K No ClinGen
Ensembl
CA1471721
rs778012930
1049 P>S No ClinGen
ExAC
gnomAD
rs781181903
CA1471718
1050 T>A No ClinGen
ExAC
TOPMed
gnomAD
CA39751848
rs959869052
1050 T>I No ClinGen
gnomAD
rs1379828744
CA345371093
1052 V>A No ClinGen
TOPMed
rs1383652725
CA345371074
1055 D>G No ClinGen
gnomAD
CA39751840
rs919467404
1056 E>K No ClinGen
TOPMed
gnomAD
CA1471717
rs754802213
1057 A>P No ClinGen
ExAC
gnomAD
CA39751829
rs752591205
1058 M>V No ClinGen
Ensembl
CA345371036
rs1380599136
1061 H>R No ClinGen
TOPMed
CA1471716
rs751525354
1061 H>Y No ClinGen
ExAC
gnomAD
rs1266419649
CA345371026
1063 T>A No ClinGen
gnomAD
CA39751823
rs868743217
1063 T>I No ClinGen
gnomAD
TCGA novel 1065 G>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1255787329
CA345371006
1066 K>R No ClinGen
gnomAD
CA345370998
rs1314537948
1067 Y>C No ClinGen
gnomAD
rs905633436
CA39751818
1068 N>S No ClinGen
gnomAD
rs370869084
CA1471713
1076 N>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs765031157
CA1471712
1076 N>K No ClinGen
ExAC
gnomAD
rs370869084
CA39751816
1076 N>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs761095912
CA1471711
1077 E>K No ClinGen
ExAC
gnomAD
CA39751788
rs909329329
1078 D>G No ClinGen
TOPMed
gnomAD
COSM354856
CA1471709
rs767937308
1079 P>L lung [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs1167908231
CA345370919
1079 P>T No ClinGen
gnomAD
CA39751771
rs894021340
1080 K>R No ClinGen
Ensembl
rs199616842
CA345370890
1083 D>E No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1195526194
CA345370895
1083 D>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA345370891
rs1447861094
1083 D>V No ClinGen
gnomAD
rs763065743
CA1471705
1084 I>M No ClinGen
ExAC
gnomAD
CA1471706
rs377284390
1084 I>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1471704
rs773405671
1086 I>V No ClinGen
ExAC
gnomAD
CA1471703
rs770073279
1090 H>R No ClinGen
ExAC
TOPMed
gnomAD
CA345370849
rs1354744843
1090 H>Y No ClinGen
TOPMed
CA39751697
rs956625027
1091 T>R No ClinGen
TOPMed
rs748410988
CA1471702
1091 T>S No ClinGen
ExAC
gnomAD
CA39751674
rs1051964000
1092 T>A No ClinGen
TOPMed
gnomAD
CA345370834
rs1339572617
1092 T>I No ClinGen
TOPMed
gnomAD
CA345370835
rs1339572617
1092 T>R No ClinGen
TOPMed
gnomAD
rs1331916027
CA345370832
1093 K>E No ClinGen
TOPMed
gnomAD
rs1193465458
CA345370827
1093 K>N No ClinGen
TOPMed
CA345370817
rs1375870736
1095 L>F No ClinGen
gnomAD
CA1471698
rs780182886
1096 Y>C No ClinGen
ExAC
gnomAD
CA1471699
rs746883150
1096 Y>H No ClinGen
ExAC
gnomAD
COSM355350
CA1471696
rs139477120
1097 A>T lung [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA1471695
rs778570394
COSM1185799
1097 A>V lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 1098 G>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs753548904
CA1471693
1098 G>E No ClinGen
ExAC
TOPMed
gnomAD
CA39751597
rs767731232
1101 T>A No ClinGen
ExAC
TOPMed
gnomAD
CA1471692
rs767731232
1101 T>P No ClinGen
ExAC
TOPMed
gnomAD
rs372897306
CA345370776
1102 I>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1471690
rs79225714
1102 I>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs372897306
CA1471691
1102 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs369436014
CA1471689
1103 Q>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1471688
rs763012371
1105 T>A No ClinGen
ExAC
gnomAD
CA345370756
rs1355068308
1105 T>I No ClinGen
gnomAD
rs773213234
CA1471687
1106 A>T No ClinGen
ExAC
gnomAD
CA1471684
rs377405226
1108 E>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA1471683
rs377405226
1108 E>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs377405226
CA1471685
1108 E>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs777283123
CA1471658
1110 I>M No ClinGen
ExAC
gnomAD
COSM533537
CA345370716
rs1246982024
1110 I>V lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
CA1471657
rs755720751
1111 T>I No ClinGen
ExAC
TOPMed
gnomAD
CA345370701
rs1572041172
1112 K>N No ClinGen
Ensembl
rs1040417521
CA39751091
1112 K>Q No ClinGen
TOPMed
gnomAD
rs928589629
CA39751089
1113 P>R No ClinGen
Ensembl
rs1301690036
CA345370699
1113 P>T No ClinGen
TOPMed
rs979922845
CA39751087
1115 F>C No ClinGen
TOPMed
CA345370682
rs979922845
1115 F>S No ClinGen
TOPMed
CA1471656
rs747816359
1116 A>P No ClinGen
ExAC
gnomAD
rs1240383488
CA345370677
1116 A>V No ClinGen
TOPMed
rs780352052
CA39751058
1117 A>D No ClinGen
ExAC
TOPMed
gnomAD
rs780352052
CA1471655
1117 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs1443259829
CA345370669
1118 I>V No ClinGen
gnomAD
CA1471653
rs750900693
1119 S>T No ClinGen
ExAC
TOPMed
gnomAD
rs1239661224
CA345370653
1120 D>V No ClinGen
Ensembl
rs765823873
CA1471652
1121 E>G No ClinGen
ExAC
gnomAD
TCGA novel 1121 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA345370638
rs1247284014
1122 K>N No ClinGen
TOPMed
CA39751048
rs576961723
1122 K>T No ClinGen
1000Genomes
rs4659683
CA345370633
1123 V>D No ClinGen
gnomAD
rs4659683
CA39751038
1123 V>G No ClinGen
gnomAD
CA39751029
rs935189490
1124 Q>E No ClinGen
TOPMed
gnomAD
CA345370612
rs1191564420
1126 K>R No ClinGen
TOPMed
TCGA novel 1127 L>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1471648
rs376304118
1132 F>L No ClinGen
ESP
ExAC
gnomAD
CA39750979
rs748718984
1132 F>S No ClinGen
Ensembl
rs760930540
CA39750961
1134 L>F No ClinGen
ExAC
TOPMed
gnomAD
rs1410371050
CA345370550
1135 L>W No ClinGen
TOPMed
CA1471645
rs767386827
1137 N>S No ClinGen
ExAC
gnomAD
CA1471643
rs558762339
1140 N>Y No ClinGen
1000Genomes
ExAC
gnomAD
CA39750951
rs868631637
1143 C>G No ClinGen
TOPMed
gnomAD
CA39750949
rs954936526
1144 A>S No ClinGen
Ensembl
CA345370471
rs1351035218
1146 T>I No ClinGen
TOPMed
CA345370472
rs1351035218
1146 T>S No ClinGen
TOPMed
rs770963849
CA1471642
1149 S>G No ClinGen
ExAC
TOPMed
gnomAD
rs1234936825
CA345370453
1149 S>N No ClinGen
gnomAD
CA345370438
rs1435073996
1151 F>S No ClinGen
Ensembl
rs749182752
CA1471641
1152 K>* No ClinGen
ExAC
gnomAD
rs1297033041
CA345370422
1153 G>V No ClinGen
gnomAD
CA345370408
rs1461819063
1154 I>V No ClinGen
TOPMed
CA1471616
rs781305437
1156 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs1045981863
CA39749550
1157 N>H No ClinGen
Ensembl
rs779288098
COSM224185
CA1471615
1158 A>T skin [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs771230939
CA1471614
1158 A>V No ClinGen
ExAC
gnomAD
CA39749522
rs749028568
1160 Q>R No ClinGen
Ensembl
CA345370356
rs374984885
1162 R>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1471612
rs374984885
1162 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA345370349
rs1221098148
1163 I>M No ClinGen
gnomAD
CA1471610
rs756246368
1164 E>G No ClinGen
ExAC
gnomAD
rs1275406568
CA345370327
1167 P>S No ClinGen
gnomAD
CA345370317
rs1234338330
1168 P>L No ClinGen
gnomAD
CA345370320
rs1287081321
1168 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA1471609
rs752889526
1170 K>E No ClinGen
ExAC
gnomAD
CA345370284
rs1393651493
1173 P>L No ClinGen
TOPMed
gnomAD
rs916070176
CA39749468
1174 L>S No ClinGen
Ensembl
CA1471608
rs781421873
1180 K>N No ClinGen
ExAC
gnomAD
CA345370219
rs1487687476
1183 Q>E No ClinGen
TOPMed
COSM1185798
rs755166255
CA1471607
1185 M>I lung [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs1208895698
CA345370204
1185 M>V No ClinGen
TOPMed
CA345370196
rs1165220462
1186 Q>K No ClinGen
gnomAD
rs751755305
CA1471606
1187 Q>P No ClinGen
ExAC
TOPMed
gnomAD
CA1471582
rs765021255
1191 Q>E No ClinGen
ExAC
gnomAD
CA345370135
rs1349339113
1192 D>E No ClinGen
gnomAD
rs753802952
CA1471580
1192 D>N No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 1194 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1303576876
CA345370116
1195 S>C No ClinGen
gnomAD
TCGA novel 1195 S>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA345370104
rs1223856843
1197 Q>R No ClinGen
gnomAD
CA345370093
rs149288116
1198 E>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs139560097
CA1471577
1199 V>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA1471576
rs767138512
1200 G>E No ClinGen
ExAC
TOPMed
gnomAD
rs1286359454
CA345370087
1200 G>R No ClinGen
gnomAD
CA39749150
rs527787716
1204 W>C No ClinGen
TOPMed
gnomAD
CA345370044
rs1273391426
1206 R>K No ClinGen
TOPMed
CA345370036
rs1401272200
1207 V>A No ClinGen
gnomAD
rs1436520893
CA345370026
1209 L>V No ClinGen
gnomAD
rs1347977862
CA345370020
1210 I>V No ClinGen
TOPMed
rs1301811097
CA345370014
1211 L>M No ClinGen
gnomAD
TCGA novel 1213 L>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 1219 K>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1407754933
CA345369957
1219 K>Q No ClinGen
gnomAD
CA39749139
rs58165825
1221 R>K No ClinGen
Ensembl
CA345369913
rs1475194768
1225 I>L No ClinGen
gnomAD
rs1429415157
CA345369901
1227 V>M No ClinGen
gnomAD
rs777322505
CA1471571
1228 P>S No ClinGen
ExAC
gnomAD
CA1471570
rs768761367
1229 T>A No ClinGen
ExAC
TOPMed
gnomAD
rs768761367
CA345369890
1229 T>P No ClinGen
ExAC
TOPMed
gnomAD
CA39749098
rs894760080
1230 L>F No ClinGen
gnomAD
CA345369883
rs1280384668
1230 L>H No ClinGen
gnomAD
rs747120147
CA1471569
1232 N>K No ClinGen
ExAC
gnomAD
rs1336910497
CA345369864
1233 L>V No ClinGen
gnomAD
rs866586055
CA39748274
1237 C>S No ClinGen
Ensembl
rs772216623
CA345369814
1239 E>K No ClinGen
ExAC
gnomAD
CA1471549
rs772216623
1239 E>Q No ClinGen
ExAC
gnomAD
CA345369806
rs1334038526
1240 P>A No ClinGen
gnomAD
rs1558183198
CA345369804
1240 P>H No ClinGen
Ensembl
CA345369807
rs1334038526
1240 P>T No ClinGen
gnomAD
rs887404006
TCGA novel
CA39748260
1241 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
ClinGen
TOPMed
TCGA novel 1242 P>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs968923678
CA39748259
1242 P>S No ClinGen
TOPMed
gnomAD
TCGA novel 1244 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA345369778
rs1317380938
1244 E>G No ClinGen
gnomAD
CA1471547
rs779154192
1246 G>R No ClinGen
ExAC
gnomAD
rs370088862
CA1471546
1247 N>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA345369757
rs1311925045
1247 N>S No ClinGen
gnomAD
rs375679830
CA1471544
1248 M>T No ClinGen
ESP
ExAC
gnomAD
rs749146563
CA1471545
1248 M>V No ClinGen
ExAC
gnomAD
CA1471543
rs199851350
1250 Y>H No ClinGen
ExAC
gnomAD
CA39748243
rs898489518
1251 T>I No ClinGen
TOPMed
CA1471541
rs201619269
1252 K>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1471540
rs147110509
1253 Q>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1471538
rs148988733
1257 S>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA345369684
rs1215180884
1258 C>S No ClinGen
gnomAD
rs1335170397
CA345369673
1260 L>F No ClinGen
gnomAD
rs762267730
CA1471537
1260 L>R No ClinGen
ExAC
gnomAD
CA345369663
rs1221996855
1261 N>I No ClinGen
gnomAD
rs1456611031
CA345369649
1263 C>S No ClinGen
TOPMed
rs76073611
CA1471534
1264 Q>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA345369644
rs1163120858
1264 Q>K No ClinGen
TOPMed
rs776097501
CA1471533
1266 L>P No ClinGen
ExAC
TOPMed
gnomAD
CA1471530
rs774549532
1267 S>F No ClinGen
ExAC
gnomAD
CA1471528
rs201125369
1268 P>A No ClinGen
ExAC
gnomAD
rs1399441530
CA345369618
1268 P>L No ClinGen
gnomAD
rs201125369
CA1471529
1268 P>S No ClinGen
ExAC
gnomAD
CA345369606
rs1339037781
1270 G>D No ClinGen
TOPMed
CA39748152
rs913171186
1270 G>S No ClinGen
TOPMed
CA1471526
rs769658449
1272 K>R No ClinGen
ExAC
TOPMed
gnomAD
CA1471525
rs748001309
1273 I>M No ClinGen
ExAC
gnomAD
TCGA novel 1274 P>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs199948161
CA1471524
1274 P>T No ClinGen
ExAC
TOPMed
gnomAD
rs768651802
CA1471504
1276 D>G No ClinGen
ExAC
gnomAD
rs551819849
CA1471523
1276 D>N No ClinGen
1000Genomes
ExAC
gnomAD
rs143410468
CA1471503
1277 I>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA1471502
rs779663173
1277 I>T No ClinGen
ExAC
TOPMed
gnomAD
CA39747890
rs143410468
1277 I>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs758015784
CA1471501
1278 L>S No ClinGen
ExAC
gnomAD
CA1471499
rs149379590
1279 D>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA1471500
rs148676376
1279 D>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs149379590
CA345369541
1279 D>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs756429013
CA1471498
1281 E>G No ClinGen
ExAC
gnomAD
CA39747875
rs995728790
1281 E>Q No ClinGen
TOPMed
rs201415717
CA1471496
1282 K>N No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1354165077
CA345369515
1283 F>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
COSM210460
rs755424367
CA1471494
1285 V>M large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA345369483
COSM1194760
rs1558182997
1287 L>F lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
Ensembl
NCI-TCGA
CA39747863
rs61730305
1288 I>T No ClinGen
TOPMed
rs766412670
CA1471492
1291 C>R No ClinGen
ExAC
gnomAD
CA345369445
rs1411365102
COSM3705654
1293 R>C liver [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
CA1471491
rs763139216
1293 R>H No ClinGen
ExAC
gnomAD
rs773296322
CA1471490
1295 S>L No ClinGen
ExAC
TOPMed
gnomAD
CA1471488
rs372421763
1296 E>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs545842963
CA1471487
CA1471486
1297 M>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA1471485
rs749994487
1298 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA345369415
rs1483585627
1298 P>S No ClinGen
gnomAD
rs553776325
CA1471483
1303 H>D No ClinGen
1000Genomes
ExAC
gnomAD
rs745448080
CA1471482
1303 H>R No ClinGen
ExAC
TOPMed
gnomAD
CA1471480
rs368783856
1306 L>S No ClinGen
ESP
ExAC
gnomAD
rs1296015290
CA345369339
1310 T>A No ClinGen
TOPMed
gnomAD
CA345369337
rs1296015290
1310 T>P No ClinGen
TOPMed
gnomAD
rs755373172
CA345369327
1312 A>P No ClinGen
ExAC
gnomAD
rs755373172
CA1471477
1312 A>T No ClinGen
ExAC
gnomAD
CA1471476
rs752036660
1312 A>V No ClinGen
ExAC
gnomAD
rs1054265331
CA39747657
1313 G>E No ClinGen
TOPMed
gnomAD
rs1054265331
CA39747636
1313 G>V No ClinGen
TOPMed
gnomAD
CA345369318
rs1362499111
1314 I>V Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA1471475
rs144916392
1315 F>L No ClinGen
1000Genomes
ExAC
gnomAD
CA39747623
rs935904378
1316 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs1441553336
CA345369286
1317 D>N No ClinGen
gnomAD
CA1471454
rs780403528
1321 H>Q No ClinGen
ExAC
TOPMed
gnomAD
rs201502489
CA1471455
1321 H>R No ClinGen
ExAC
gnomAD
CA39744981
rs573451380
1322 N>S No ClinGen
gnomAD
rs201759425
CA39744954
1324 M>I No ClinGen
gnomAD
CA1471453
rs758886629
1325 S>C No ClinGen
ExAC
TOPMed
gnomAD
CA345369226
rs750920062
1326 I>L No ClinGen
ExAC
gnomAD
CA1471451
rs200421108
1326 I>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1471452
rs750920062
1326 I>V No ClinGen
ExAC
gnomAD
CA345369220
rs1259418348
1327 F>L No ClinGen
gnomAD
CA1471449
rs754093326
1330 M>I No ClinGen
ExAC
gnomAD
rs900636432
CA39744923
1330 M>T No ClinGen
Ensembl
rs1422590594
CA345369186
1332 A>T No ClinGen
TOPMed
rs764470713
CA1471448
1332 A>V No ClinGen
ExAC
gnomAD
rs999354392
CA39744893
1333 N>D No ClinGen
TOPMed
gnomAD
rs150496012
CA345369178
1333 N>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA1471447
rs150496012
1333 N>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA345369179
rs150496012
1333 N>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1381398635
CA345369163
1335 M>I No ClinGen
gnomAD
rs1301566745
CA345369168
1335 M>V No ClinGen
gnomAD
COSM1209441
rs376322680
CA1471446
1336 R>C large_intestine [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
CA345369158
rs1290503088
1336 R>H No ClinGen
gnomAD
CA345369133
rs1361245989
1340 T>A No ClinGen
gnomAD
rs774191479
CA1471443
1342 S>G No ClinGen
ExAC
gnomAD
CA345369117
rs1379540237
1342 S>T No ClinGen
gnomAD
CA1471442
rs770450442
1343 F>V No ClinGen
ExAC
gnomAD
CA345369076
rs1260154485
1348 K>E No ClinGen
TOPMed
gnomAD
CA345369068
rs1399350520
1349 T>A No ClinGen
TOPMed
TCGA novel 1349 T>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA345369063
rs1395445012
1350 V>M No ClinGen
TOPMed
rs1196464250
CA345369042
1352 M>I No ClinGen
gnomAD
CA39744816
rs373053489
1352 M>T No ClinGen
ESP
TOPMed
CA345369017
rs1208032940
1356 A>E No ClinGen
gnomAD
CA345369022
rs1278961171
COSM906040
1356 A>T Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
CA345369018
rs1208032940
1356 A>V No ClinGen
gnomAD
rs371203298
CA1471439
1358 I>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA345368981
rs1304042244
1360 S>C No ClinGen
TOPMed
CA1471417
rs186277314
1361 D>G No ClinGen
1000Genomes
ExAC
gnomAD
CA1471416
CA345368943
rs111419712
1366 I>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA1471413
rs774919716
1366 I>M No ClinGen
ExAC
TOPMed
gnomAD
CA1471414
rs115684254
1366 I>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA1471415
rs111419712
1366 I>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs551138097
CA345368925
1369 S>A No ClinGen
TOPMed
rs551138097
CA39739799
1369 S>P No ClinGen
TOPMed
rs763890383
CA1471412
1372 V>I No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 1374 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA345368876
rs1558181342
1376 V>L No ClinGen
Ensembl
CA1471410
rs749835165
1380 I>F No ClinGen
ExAC
gnomAD
rs777960224
CA1471409
1380 I>T No ClinGen
ExAC
gnomAD
rs1181430777
CA345368834
1382 V>G No ClinGen
gnomAD
rs146444485
CA1471408
1382 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA345368825
rs1401001587
1384 V>M No ClinGen
TOPMed
CA345368811
rs1319849547
1386 A>T No ClinGen
TOPMed
CA1471406
rs781325001
1386 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1034480375
CA39739748
1388 P>L No ClinGen
gnomAD
CA345368800
rs1239577278
1388 P>S No ClinGen
gnomAD
rs143307751
CA345368790
1389 H>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA1471401
rs750396656
1390 V>I Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs761362908
CA1471399
1391 P>L No ClinGen
ExAC
gnomAD
rs142597852
CA1471400
1391 P>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
COSM210459
rs1447872740
CA345368754
1395 R>C large_intestine [Cosmic] No ClinGen
cosmic curated
gnomAD
TCGA novel 1395 R>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA39739698
rs942617105
1397 P>L No ClinGen
Ensembl
CA1471393
rs759055188
1397 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA345368734
rs1253637056
1399 L>F No ClinGen
TOPMed
CA345368731
rs1392021037
1399 L>H No ClinGen
TOPMed
gnomAD
CA345368729
rs1392021037
1399 L>R No ClinGen
TOPMed
gnomAD
CA345368727
rs748240315
1400 V>F No ClinGen
ExAC
TOPMed
gnomAD
rs748240315
CA1471390
1400 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA1471389
rs781334278
1402 L>V No ClinGen
ExAC
gnomAD
rs1246533734
CA345368703
1404 D>H No ClinGen
TOPMed
rs1178856982
CA345368691
1405 T>I No ClinGen
TOPMed
gnomAD
rs369632116
CA1471388
1406 L>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs369632116
CA1471387
1406 L>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs779787737
CA1471386
1409 E>G No ClinGen
ExAC
TOPMed
gnomAD
CA345368667
rs1392049404
1410 K>E No ClinGen
gnomAD
rs750339435
CA1471384
1413 W>C No ClinGen
ExAC
gnomAD
CA345368637
rs1451994016
1414 I>V No ClinGen
gnomAD
rs1572037160
CA345368631
1415 L>F No ClinGen
Ensembl
rs1401720044
CA345368617
1417 I>F No ClinGen
TOPMed
gnomAD
rs1174575896
CA345368615
1417 I>T No ClinGen
TOPMed
gnomAD
rs1401720044
CA345368619
1417 I>V No ClinGen
TOPMed
gnomAD
CA345368604
rs138927825
1419 L>F No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs138927825
CA1471381
1419 L>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA345368577
rs763680391
1422 Q>H No ClinGen
ExAC
gnomAD
CA1471379
rs373830599
1423 Y>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs373830599
CA39739657
1423 Y>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1471378
rs752434671
1425 T>A No ClinGen
ExAC
TOPMed
gnomAD
rs1350839440
CA345368546
1427 T>K No ClinGen
gnomAD
CA1471376
rs61736343
1430 A>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1438861064
CA345368524
1431 A>V No ClinGen
TOPMed
rs653737
CA1471374
VAR_049332
1433 Y>C No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs653737
CA345368513
1433 Y>F No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1392831651
CA345368501
1435 E>G No ClinGen
gnomAD
CA1471372
rs530429868
1435 E>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs988909957
CA345368474
1437 D>G No ClinGen
gnomAD
rs988909957
CA39739036
1437 D>V No ClinGen
gnomAD
CA345368475
rs1339998847
1437 D>Y No ClinGen
TOPMed
gnomAD
CA39739025
rs992253018
1440 L>V No ClinGen
TOPMed
CA345368442
rs1212509177
1442 A>T No ClinGen
TOPMed
gnomAD
CA39738965
rs369162017
1443 D>E No ClinGen
ESP
TOPMed
rs868490953
CA39738999
COSM1193461
1443 D>H lung [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
rs868490953
CA39739006
1443 D>N No ClinGen
TOPMed
gnomAD
CA1471357
rs199902201
1444 T>S No ClinGen
1000Genomes
ExAC
gnomAD
CA345368421
rs1375194354
1445 E>D No ClinGen
TOPMed
CA345368418
rs1558180959
1446 F>L No ClinGen
Ensembl
TCGA novel 1449 S>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1471354
rs777239211
1455 S>G No ClinGen
ExAC
TOPMed
gnomAD
rs760867644
CA1471352
1455 S>N No ClinGen
ExAC
gnomAD
CA1471355
rs777239211
1455 S>R No ClinGen
ExAC
TOPMed
gnomAD
CA1471353
rs760867644
1455 S>T No ClinGen
ExAC
gnomAD
rs1376336041
CA345368341
1456 V>G No ClinGen
gnomAD
rs1304120983
CA345368335
1457 Q>L No ClinGen
gnomAD
rs1448273421
CA345368329
1458 H>P No ClinGen
gnomAD
CA345368328
rs1448273421
1458 H>R No ClinGen
gnomAD
rs1353513012
CA345368316
1460 I>L No ClinGen
gnomAD
rs1572036731
CA345368298
1462 S>N No ClinGen
Ensembl
TCGA novel 1464 M>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1471350
rs772217461
1464 M>L No ClinGen
ExAC
TOPMed
gnomAD
CA1471351
rs772217461
1464 M>V No ClinGen
ExAC
TOPMed
gnomAD
rs778638153
CA1471348
1466 I>T No ClinGen
ExAC
gnomAD
TCGA novel 1470 L>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs145126908
CA39738891
1471 L>I No ClinGen
ESP
TOPMed
rs749157445
CA1471346
1477 K>E No ClinGen
ExAC
gnomAD
CA39737442
rs202229409
1480 T>N No ClinGen
gnomAD
rs1012986973
CA39737435
1481 I>F No ClinGen
TOPMed
gnomAD
CA1471332
rs759721801
1483 K>E No ClinGen
ExAC
TOPMed
CA345368138
rs1176997174
1484 A>T No ClinGen
gnomAD
rs1441816546
CA345368133
1484 A>V No ClinGen
gnomAD
CA39737410
rs887259459
1488 N>S No ClinGen
TOPMed
gnomAD
rs774604488
CA345368099
1489 K>N No ClinGen
ExAC
TOPMed
gnomAD
CA345368092
rs1469602488
COSM1501682
1490 S>I lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
rs1487728140
CA345368064
1494 E>A No ClinGen
gnomAD
rs1267684304
CA345368041
1497 L>V No ClinGen
TOPMed
gnomAD
CA39737390
rs772883589
1501 N>K No ClinGen
ExAC
gnomAD
rs1415821952
CA345368005
1502 V>A No ClinGen
TOPMed
rs769711703
CA1471327
1502 V>I No ClinGen
ExAC
gnomAD
COSM680018
CA1471326
rs748116286
1503 E>D lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
TCGA novel 1503 E>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA345367995
rs1377116635
1504 T>A No ClinGen
gnomAD
CA345367991
rs1302271532
1504 T>I No ClinGen
gnomAD
rs1302271532
CA345367993
1504 T>N No ClinGen
gnomAD
CA1471324
rs184859593
1508 K>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA345367954
rs1294028344
1509 Q>H No ClinGen
gnomAD
rs746638530
CA345367945
1511 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA1471323
rs746638530
1511 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1558180469
CA345367947
1511 R>W Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
rs139925165
CA1471322
1512 H>R No ClinGen
ESP
ExAC
gnomAD
rs1421618596
CA345367927
1514 K>E No ClinGen
TOPMed
gnomAD
CA345367924
rs1215431003
1514 K>T No ClinGen
gnomAD
CA39737341
rs1036691248
1517 S>L No ClinGen
TOPMed
rs60654480
CA39737338
1518 V>M No ClinGen
Ensembl
TCGA novel 1519 S>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1198430500
CA345367889
1520 F>L No ClinGen
gnomAD
CA1471319
rs764382158
1520 F>S No ClinGen
ExAC
TOPMed
gnomAD
rs1052351099
CA39737320
1521 M>T No ClinGen
Ensembl
CA1471318
rs756566799
1522 S>C No ClinGen
ExAC
TOPMed
gnomAD
CA345367866
rs1226978844
1523 Q>R No ClinGen
TOPMed
CA39737301
rs935286118
1525 L>Q No ClinGen
Ensembl
rs753240557
CA1471317
1526 S>C No ClinGen
ExAC
TOPMed
gnomAD
CA1471315
rs759666486
1527 S>Y No ClinGen
ExAC
gnomAD
rs1206821957
CA345367838
1528 N>S No ClinGen
TOPMed
CA1471313
rs766555347
1530 F>L No ClinGen
ExAC
gnomAD
rs766555347
CA1471314
1530 F>V No ClinGen
ExAC
gnomAD
rs761758927
CA1471290
1534 V>I No ClinGen
ExAC
gnomAD
rs776704912
CA1471289
1535 V>F No ClinGen
ExAC
gnomAD
rs1329586617
CA345367766
1537 S>G No ClinGen
TOPMed
rs202240841
CA1471288
1538 G>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs144406835
CA1471287
1540 P>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA345367743
rs1314926775
1541 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA1471286
rs558088674
1542 I>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs978845326
CA39734842
1542 I>T No ClinGen
Ensembl
rs1404560163
CA345367730
1543 L>I No ClinGen
TOPMed
gnomAD
CA345367710
rs1303645889
1545 G>V No ClinGen
gnomAD
CA1471285
rs143058283
1548 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs745508834
CA1471284
1549 R>K No ClinGen
ExAC
gnomAD
CA345367671
rs747825875
1549 R>S No ClinGen
TOPMed
gnomAD
rs1239665403
CA345367664
1550 L>F No ClinGen
gnomAD
rs201149006
CA39733505
1552 E>G No ClinGen
gnomAD
CA345367646
rs1447897162
1553 T>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA345367648
rs1447897162
1553 T>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs996901705
CA39733486
1554 V>I No ClinGen
TOPMed
gnomAD
rs758501854
CA1471258
1556 G>D No ClinGen
ExAC
gnomAD
CA1471259
rs780485939
1556 G>S No ClinGen
ExAC
gnomAD
CA1471257
rs745869843
1557 Y>C No ClinGen
ExAC
TOPMed
gnomAD
CA345367622
rs1572033771
1558 I>V No ClinGen
Ensembl
CA1471256
VAR_049333
rs6661946
1559 S>N No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA345367616
rs1167871951
1559 S>R No ClinGen
TOPMed
gnomAD
CA345367586
rs1477565601
1563 Q>R No ClinGen
gnomAD
rs754148431
CA345367576
1565 M>L No ClinGen
ExAC
gnomAD
CA1471253
rs763953610
1565 M>T No ClinGen
ExAC
TOPMed
gnomAD
CA1471254
rs754148431
1565 M>V No ClinGen
ExAC
gnomAD
rs865968890
CA39733439
1566 E>* No ClinGen
Ensembl
rs752673708
CA1471251
1569 A>T No ClinGen
ExAC
gnomAD
TCGA novel 1569 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs77776078
CA1471250
1570 D>E No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA345367526
rs1412859088
1572 L>F No ClinGen
TOPMed
rs201834812
CA1471248
1574 V>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA1471247
rs374099305
1575 K>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs531736484
CA39733408
1575 K>R No ClinGen
Ensembl
rs762559378
CA1471246
1577 W>C No ClinGen
ExAC
gnomAD
CA39733373
rs984400999
1578 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs772902702
CA1471245
1578 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA1471243
rs747400321
COSM210458
1579 A>T Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs775927959
CA1471242
1579 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA345367477
rs1267319358
1580 L>P No ClinGen
TOPMed
gnomAD
CA345367470
rs1447974172
1581 L>R No ClinGen
TOPMed
rs1280214886
CA345367474
1581 L>V No ClinGen
TOPMed
CA1471240
rs746403332
1582 S>G No ClinGen
ExAC
gnomAD
rs1422749115
CA345367444
1585 Y>C No ClinGen
TOPMed
gnomAD
CA345367446
rs1478251909
1585 Y>H No ClinGen
gnomAD
CA1471237
rs749505335
1586 D>E No ClinGen
ExAC
TOPMed
gnomAD
CA39733325
rs911587372
1586 D>N No ClinGen
Ensembl
CA39733323
rs987032753
1588 L>F No ClinGen
Ensembl
rs756359423
CA1471235
1590 K>E No ClinGen
ExAC
TOPMed
gnomAD
CA1471217
rs141660503
1592 N>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1195565660
CA345367381
1593 A>T No ClinGen
TOPMed
rs775049727
CA1471216
1594 L>S No ClinGen
ExAC
CA1471215
rs771127536
1599 T>I No ClinGen
ExAC
gnomAD
rs769856164
CA1471212
1602 P>L No ClinGen
ExAC
gnomAD
CA345367325
rs1257861054
1602 P>S No ClinGen
gnomAD
CA345367320
rs1320556324
1603 V>L No ClinGen
gnomAD
TCGA novel 1604 I>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1471211
rs748433436
1606 G>E No ClinGen
ExAC
gnomAD
rs780817490
CA1471210
1608 V>A No ClinGen
ExAC
TOPMed
gnomAD
CA39732915
rs935067724
1608 V>M Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
CA1471209
rs754814133
1610 N>S No ClinGen
ExAC
TOPMed
gnomAD
CA39732896
rs890221877
1611 P>A No ClinGen
TOPMed
rs1394760409
CA345367273
1611 P>H No ClinGen
TOPMed
CA345367274
rs890221877
1611 P>S No ClinGen
TOPMed
CA39732897
rs890221877
1611 P>T No ClinGen
TOPMed
CA345367254
rs1366209678
1614 S>C No ClinGen
TOPMed
rs372362755
CA1471206
1616 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs749879063
CA1471205
1616 R>H Variant assessed as Somatic; 4.631e-05 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA1471204
rs571188259
COSM161480
1617 R>C breast [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
CA1471203
rs753570196
1617 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs753570196
CA1471202
1617 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs368599342
CA1471201
1618 K>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA39732822
rs760041607
1619 A>G No ClinGen
ExAC
TOPMed
gnomAD
rs1469084427
CA345367231
1619 A>T No ClinGen
TOPMed
CA1471200
rs760041607
1619 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA39732817
rs144518221
1621 D>Y No ClinGen
1000Genomes
ESP
TOPMed
TCGA novel 1624 N>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1471197
rs375244010
1627 L>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1471195
rs769956169
1629 Q>H No ClinGen
ExAC
gnomAD
rs115054974
CA1471194
1630 N>D No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs371868580
CA1471193
1630 N>S No ClinGen
ESP
ExAC
CA345367154
rs1175488987
1631 I>V No ClinGen
TOPMed
gnomAD
CA1471192
rs560393274
1636 T>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA345367112
rs1291453466
1637 I>V No ClinGen
gnomAD
CA1471176
rs143980201
1640 R>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA1471175
rs143980201
1640 R>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs374894422
CA1471174
1640 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA345367067
rs1317256006
1642 L>P No ClinGen
gnomAD
CA345367054
rs1300385823
1644 L>P No ClinGen
gnomAD
CA345367052
rs1384881656
1645 V>I No ClinGen
gnomAD
CA345367045
rs747254483
1646 P>A No ClinGen
ExAC
TOPMed
gnomAD
CA1471173
rs747254483
1646 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs771898737
CA1471171
1651 I>M No ClinGen
ExAC
gnomAD
rs1455577056
CA345367008
1652 V>L No ClinGen
gnomAD
CA345366998
rs1450099677
1653 Q>R No ClinGen
TOPMed
gnomAD
rs745773701
CA1471170
1654 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs16833884
CA1471169
VAR_049334
1654 R>H No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1047753808
CA39732160
1655 K>N No ClinGen
TOPMed
gnomAD
rs757143929
CA1471168
1658 E>D No ClinGen
ExAC
gnomAD
CA345366937
rs1487670668
1662 E>Q No ClinGen
gnomAD
CA345366929
rs1260501927
1663 Q>E No ClinGen
gnomAD
rs1485960193
CA345366911
1665 I>M No ClinGen
gnomAD
rs777443144
CA1471166
1665 I>V No ClinGen
ExAC
gnomAD
CA1471165
rs140846433
1666 N>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA345366901
rs1230701256
1667 R>K No ClinGen
gnomAD
rs766828466
CA1471163
1669 T>I No ClinGen
ExAC
gnomAD
rs758853810
CA1471162
1670 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs201522356
CA1471161
1670 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs762242781
CA1471159
1672 Y>C No ClinGen
ExAC
gnomAD
rs776644219
CA1471158
1673 T>S No ClinGen
ExAC
TOPMed
gnomAD
rs764190523
CA1471157
1674 L>F No ClinGen
ExAC
gnomAD
CA345366854
rs1464809426
1675 K>E No ClinGen
gnomAD
TCGA novel 1679 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1471156
rs768268042
1680 N>S No ClinGen
ExAC
TOPMed
gnomAD
CA345366815
rs1408837747
1680 N>Y No ClinGen
gnomAD
rs145196748
CA1471155
1681 F>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 1682 G>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs771843600
CA1471154
1682 G>S No ClinGen
ExAC
TOPMed
gnomAD
rs745745797
CA1471153
1685 N>K No ClinGen
ExAC
TOPMed
gnomAD
rs774027857
CA1471152
1686 P>L No ClinGen
ExAC
gnomAD
rs770851065
CA1471151
1687 D>N No ClinGen
ExAC
gnomAD
CA1471150
rs61730303
1688 P>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA1471149
rs777384144
1689 F>L No ClinGen
ExAC
gnomAD
rs978371898
CA39732013
1690 V>I No ClinGen
TOPMed
gnomAD
CA1471148
rs755733796
1691 P>S No ClinGen
ExAC
gnomAD
CA1471147
rs747788869
1693 L>P No ClinGen
ExAC
gnomAD
CA345366732
rs1327119522
1694 N>D No ClinGen
gnomAD
rs2275689
CA345366729
1694 N>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
VAR_010939
CA1471145
rs2275689
1694 N>S No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs199577251
CA1471144
1695 T>A No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs779168536
CA1471143
1696 A>G No ClinGen
ExAC
gnomAD
CA345366716
rs1204014051
1697 V>M No ClinGen
gnomAD
rs1170160270
CA345366697
1700 I>L No ClinGen
gnomAD
rs1338324379
CA345366689
1701 A>P No ClinGen
TOPMed
CA1471139
rs538257249
1701 A>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA1471138
rs752915456
1702 P>A No ClinGen
ExAC
gnomAD
rs767718178
CA1471137
1705 K>E No ClinGen
ExAC
gnomAD
rs767718178
CA345366665
1705 K>Q No ClinGen
ExAC
gnomAD
CA345366662
rs1217920071
1705 K>T No ClinGen
gnomAD
rs771356015
CA39731902
1706 E>G No ClinGen
Ensembl
rs781364360 1707 E>missing Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
CA345366623
rs1340153746
1710 V>A No ClinGen
gnomAD
rs1016008604
CA39731858
1712 G>E No ClinGen
Ensembl
COSM302356
rs367715127
CA1471132
1714 A>T central_nervous_system Variant assessed as Somatic; 0.000231 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA1471131
rs143495736
1714 A>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs768305604
CA1471127
1717 C>F No ClinGen
ExAC
gnomAD
rs780863741
CA1471128
1717 C>G No ClinGen
ExAC
gnomAD
rs1160899832
CA345366582
1718 I>V No ClinGen
gnomAD
rs1426042385
CA345366572
1719 A>G No ClinGen
gnomAD
rs746674579
CA1471126
1721 V>A No ClinGen
ExAC
gnomAD
CA39731819
rs779306731
1724 T>A No ClinGen
ExAC
TOPMed
gnomAD
rs780292286
CA39731817
1724 T>I No ClinGen
TOPMed
gnomAD
CA1471125
rs779306731
1724 T>P Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
COSM311734
rs200302789
CA1471123
1727 A>V lung Variant assessed as Somatic; 4.626e-05 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
1000Genomes
ESP
NCI-TCGA
TOPMed
gnomAD
CA345366519
rs1304964710
1729 A>T No ClinGen
TOPMed
CA1471120
rs778323422
1730 I>M No ClinGen
ExAC
TOPMed
gnomAD
rs940740518
CA39731774
1730 I>T No ClinGen
TOPMed
rs754332969
CA1471121
1730 I>V No ClinGen
ExAC
gnomAD
CA345366500
rs1220258090
1732 Q>P No ClinGen
TOPMed
gnomAD
rs756621877
CA1471119
1734 P>S No ClinGen
ExAC
gnomAD
rs1474470215
CA345366449
1738 P>A No ClinGen
gnomAD
CA1471089
rs748413550
1738 P>L No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 1738 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA39730906
rs867845140
1739 S>L Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA1471087
rs79408620
1741 L>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA39730901
rs914931018
1743 T>A No ClinGen
TOPMed
CA1471086
rs760172644
1744 M>I No ClinGen
ExAC
gnomAD
CA345366414
rs1558177632
1744 M>R No ClinGen
Ensembl
rs1324841663
CA345366406
1745 K>R No ClinGen
gnomAD
rs1257978297
CA345366394
1747 T>P No ClinGen
gnomAD
rs199987609
CA1471085
1748 S>C No ClinGen
1000Genomes
ExAC
CA1471082
rs773530434
1749 E>G No ClinGen
ExAC
TOPMed
gnomAD
CA1471083
rs745546689
1749 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1465069214
CA345366372
1750 L>P No ClinGen
Ensembl
TCGA novel 1753 S>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA345366343
rs1572032254
1754 E>D No ClinGen
Ensembl
rs1380292702
CA345366346
1754 E>G No ClinGen
gnomAD
rs1303101968
CA345366350
1754 E>K No ClinGen
gnomAD
rs1380292702
CA345366345
1754 E>V No ClinGen
gnomAD
CA1471078
rs781615267
1756 Y>C No ClinGen
ExAC
TOPMed
gnomAD
CA1471079
rs781615267
1756 Y>S No ClinGen
ExAC
TOPMed
gnomAD
rs915546188
CA345366329
1757 L>V No ClinGen
gnomAD
rs1335760573
CA345366316
1759 S>N No ClinGen
TOPMed
CA39730862
rs149534672
1762 A>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs149534672
CA1471076
1762 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA345366271
rs1572032228
1766 K>R No ClinGen
Ensembl
CA39730853
rs991135883
1768 V>A No ClinGen
Ensembl
rs1472623568
CA345366251
1769 E>G No ClinGen
gnomAD
rs1572032213
CA345366248
1770 T>P No ClinGen
Ensembl
CA345366241
rs1185737781
1771 L>V No ClinGen
gnomAD
CA1471073
rs185953741
1772 P>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs758655047
CA1471074
1772 P>S No ClinGen
ExAC
gnomAD
rs757179796
CA1471071
1773 H>P No ClinGen
ExAC
gnomAD
CA39730813
rs747631529
1773 H>Q No ClinGen
TOPMed
gnomAD
rs763874754
CA345366218
1775 I>L No ClinGen
ExAC
TOPMed
gnomAD
rs763874754
CA1471069
1775 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs1356741623
CA345366201
1777 P>L No ClinGen
TOPMed
gnomAD
CA345366199
rs1356741623
1777 P>R No ClinGen
TOPMed
gnomAD
CA1471068
rs577396019
1778 Y>C No ClinGen
1000Genomes
ExAC
gnomAD
rs577396019
CA39730759
1778 Y>S No ClinGen
1000Genomes
ExAC
gnomAD
rs1021543535
CA39730752
1779 L>R No ClinGen
TOPMed
rs966901854
CA345366191
1779 L>V No ClinGen
gnomAD
CA345366177
rs1172186171
1781 G>D No ClinGen
gnomAD
rs11542406
CA39730742
1784 S>F No ClinGen
Ensembl
rs767050699
CA1471066
1784 S>P No ClinGen
ExAC
gnomAD
rs886805974
CA39729935
1786 V>M No ClinGen
TOPMed
rs1479151955
CA345365932
1787 I>M No ClinGen
gnomAD
rs761065481
CA1471041
1787 I>S No ClinGen
ExAC
gnomAD
CA345365930
rs1403706215
1788 H>D No ClinGen
gnomAD
CA345365931
rs1403706215
1788 H>N No ClinGen
gnomAD
rs776199324
CA345365925
1788 H>Q No ClinGen
ExAC
TOPMed
gnomAD
CA345365927
rs1270494265
1788 H>R No ClinGen
gnomAD
CA345365921
rs1487723513
1789 L>P No ClinGen
gnomAD
TCGA novel 1791 K>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1471039
rs772276212
1792 I>M No ClinGen
ExAC
gnomAD
TCGA novel 1794 S>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1471037
rs779151020
1794 S>N No ClinGen
ExAC
gnomAD
rs771014021
CA1471036
1796 M>I No ClinGen
ExAC
gnomAD
rs267598429
CA39729908
1796 M>T No ClinGen
Ensembl
rs1339013903
CA345365865
1797 G>A No ClinGen
TOPMed
TCGA novel 1798 S>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1471035
rs749561310
1799 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1324225336
COSM364248
CA345365846
1800 S>L lung [Cosmic] No ClinGen
cosmic curated
gnomAD
CA1471032
rs752623367
1802 A>V No ClinGen
ExAC
gnomAD
CA39729852
rs898228775
1803 N>D No ClinGen
TOPMed
rs781039116
CA1471031
1803 N>I No ClinGen
ExAC
gnomAD
CA1471030
rs754921244
1804 I>T No ClinGen
ExAC
gnomAD
rs900803615
CA39729840
1805 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs752629897
CA1471029
1805 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs765905193
CA1471028
1807 T>I No ClinGen
ExAC
gnomAD
CA345365797
rs1199421366
1809 L>F Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs371729329
CA1471027
1810 K>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1478167017
CA345365785
1811 K>E No ClinGen
TOPMed
rs750140316
CA1471026
1811 K>N No ClinGen
ExAC
gnomAD
rs1572031638
CA345365769
1813 L>R No ClinGen
Ensembl
CA345365772
rs1486071982
1813 L>V No ClinGen
TOPMed
gnomAD
CA345365765
rs776004580
1814 A>G No ClinGen
ExAC
gnomAD
rs761171133
CA1471024
1814 A>T No ClinGen
ExAC
gnomAD
CA1471023
rs776004580
1814 A>V No ClinGen
ExAC
gnomAD
CA345365760
rs772652823
1815 T>I No ClinGen
ExAC
gnomAD
CA1471022
rs772652823
1815 T>N No ClinGen
ExAC
gnomAD
rs1263713806
CA345365758
1816 T>A No ClinGen
TOPMed
gnomAD
rs1263713806
CA345365759
1816 T>P No ClinGen
TOPMed
gnomAD
CA345365751
rs1468817343
1817 L>F No ClinGen
TOPMed
CA345365742
rs1325980331
1818 A>V No ClinGen
gnomAD
TCGA novel 1819 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1039419321
CA39729752
1820 R>* No ClinGen
TOPMed
rs1384201484
CA345365732
1820 R>L No ClinGen
gnomAD
CA39729733
rs370642722
1821 V>G No ClinGen
Ensembl
rs774536593
CA1471020
COSM1185797
1821 V>I lung [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
CA345365726
rs1468568189
1822 L>V No ClinGen
gnomAD
CA345365719
rs1294610250
1823 L>S No ClinGen
TOPMed
CA39729722
rs910786626
1824 P>S No ClinGen
Ensembl
rs1461020545
CA345365707
1825 A>G No ClinGen
gnomAD
CA1471017
rs145363555
1825 A>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA345365706
rs1461020545
1825 A>V No ClinGen
gnomAD
rs933561107
CA39729711
1826 I>V No ClinGen
TOPMed
gnomAD
rs139348840
CA1471016
1827 K>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 1829 T>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1471015
rs747877876
1832 Q>* No ClinGen
ExAC
gnomAD
CA345365648
rs1181485480
1834 E>K No ClinGen
gnomAD
TCGA novel 1837 W>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs780985866
CA1471014
1838 K>R No ClinGen
ExAC
TOPMed
gnomAD
CA39729430
rs572297921
1839 N>T No ClinGen
1000Genomes
rs1298933572
CA345365587
1840 H>Y No ClinGen
TOPMed
rs1558176988
CA345365576
1841 M>I No ClinGen
Ensembl
rs370868615
CA1470996
1841 M>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1470995
rs768488556
1842 G>D No ClinGen
ExAC
TOPMed
gnomAD
CA1470994
rs375911763
1843 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA39729419
rs1010370512
1843 P>S No ClinGen
Ensembl
CA345365558
CA345365557
rs1331490680
1844 F>L No ClinGen
gnomAD
TCGA novel 1852 I>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA345365489
rs1252688014
1853 G>A No ClinGen
TOPMed
CA345365492
rs1204860853
1853 G>R No ClinGen
TOPMed
CA1470991
rs1885533
VAR_010940
1854 V>A No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1885533
CA39729372
1854 V>E No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1885533
CA39729338
1854 V>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs201959745
CA1470992
1854 V>M No ClinGen
1000Genomes
ExAC
CA345365466
rs1365822072
1855 M>I No ClinGen
gnomAD
CA1470990
rs778311867
1856 K>E No ClinGen
ExAC
gnomAD
rs181086746
CA1470989
1857 K>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA39729296
rs892728122
1860 L>V No ClinGen
TOPMed
gnomAD
CA1470988
rs753588336
1861 T>I No ClinGen
ExAC
gnomAD
CA1470987
rs767975912
1862 S>P No ClinGen
ExAC
gnomAD
CA1470986
rs755457626
1864 Q>L No ClinGen
ExAC
TOPMed
gnomAD
rs1220374257
CA345365337
1865 S>F No ClinGen
gnomAD
TCGA novel 1865 S>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1410323461
CA345365323
1866 Q>R No ClinGen
TOPMed
CA1470985
rs751872020
1868 T>A No ClinGen
ExAC
rs375609616
CA1470983
1869 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA345365284
rs1460619830
1869 A>V No ClinGen
TOPMed
rs1885532
CA345365254
CA345365253
1873 E>D No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1558176920
CA345365249
1874 A>V No ClinGen
Ensembl
CA1470979
rs776896499
1877 F>I No ClinGen
ExAC
gnomAD
rs149306902
CA1470978
1877 F>L No ClinGen
ESP
ExAC
TOPMed
CA345365223
rs1382579222
1878 R>Q No ClinGen
TOPMed
rs1215536758
CA345365218
1879 A>G No ClinGen
TOPMed
CA345365198
rs1275475348
1882 S>A No ClinGen
TOPMed
CA39729233
rs113612434
1882 S>C No ClinGen
ExAC
TOPMed
gnomAD
rs113612434
CA1470976
1882 S>F No ClinGen
ExAC
TOPMed
gnomAD
CA345365136
rs536014077
1885 D>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA1470955
rs536014077
1885 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA345365111
rs1174397096
1887 E>K No ClinGen
TOPMed
rs748746097
CA1470953
1891 K>E No ClinGen
ExAC
gnomAD
CA39729029
rs201518919
1892 T>M No ClinGen
TOPMed
gnomAD
CA1470951
rs202009039
1894 N>D No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA39729016
rs747794433
1895 C>F No ClinGen
ExAC
TOPMed
gnomAD
CA1470950
rs747794433
1895 C>Y No ClinGen
ExAC
TOPMed
gnomAD
rs201515471
CA1470947
1896 I>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA1470948
rs758748046
1896 I>T No ClinGen
ExAC
gnomAD
rs371888813
CA1470949
1896 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1448743342
CA345364962
1897 I>M No ClinGen
TOPMed
gnomAD
CA1470946
rs531433512
1897 I>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1350741317
CA345364936
1899 C>S No ClinGen
TOPMed
CA39728969
rs757776342
1902 A>P No ClinGen
ExAC
gnomAD
CA1470945
rs757776342
1902 A>S No ClinGen
ExAC
gnomAD
CA345364905
rs757776342
1902 A>T No ClinGen
ExAC
gnomAD
CA345364895
rs1421855611
1903 M>V No ClinGen
gnomAD
rs764192480
CA1470943
1906 K>N No ClinGen
ExAC
TOPMed
gnomAD
rs564113419
CA1470944
1906 K>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1281405216
CA345364846
1907 L>F No ClinGen
gnomAD
CA345364833
rs1185948772
1908 S>T No ClinGen
gnomAD
rs1232844834
CA345364820
1909 E>K No ClinGen
gnomAD
CA1470941
rs752914800
1914 P>T No ClinGen
ExAC
gnomAD
rs1558176756
CA345364766
1915 L>V No ClinGen
Ensembl
CA345364757
rs1197496485
1916 F>Y No ClinGen
TOPMed
CA1470918
rs766238122
1921 D>N No ClinGen
ExAC
gnomAD
rs1316172426
CA345364695
1923 A>S No ClinGen
gnomAD
CA1470917
rs763007557
1923 A>V No ClinGen
ExAC
gnomAD
CA345364668
rs1382956164
1927 D>A No ClinGen
gnomAD
COSM123554
CA1470916
rs368602949
1927 D>H upper_aerodigestive_tract [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
CA39728768
rs937433330
1930 K>E No ClinGen
Ensembl
rs747790372
CA39728759
1931 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
CA1470915
rs764808973
1938 N>S No ClinGen
ExAC
TOPMed
gnomAD
CA1470914
rs140571212
1940 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 1941 D>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA345364572
rs1295560317
1941 D>G No ClinGen
gnomAD
CA39728714
rs1053130829
1941 D>N No ClinGen
TOPMed
gnomAD
CA345364566
rs1396784356
1942 C>G No ClinGen
TOPMed
CA1470912
rs530149086
1943 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs1345039209
CA345364554
1944 A>T No ClinGen
gnomAD
CA345364527
rs1572031065
1948 K>E No ClinGen
Ensembl
rs1413350615
CA345364516
1949 G>E No ClinGen
TOPMed
gnomAD
rs1198016968
CA345364492
1953 L>V No ClinGen
gnomAD
CA39728691
rs202084979
1955 A>V No ClinGen
TOPMed
gnomAD
CA1470910
rs780852573
COSM906030
1956 G>S Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA39728620
rs913131943
1960 K>M No ClinGen
Ensembl
rs771234251
CA1470909
1961 P>S No ClinGen
ExAC
gnomAD
CA345364426
rs1485417606
1963 A>D No ClinGen
gnomAD
CA1470908
rs749806008
1965 T>A No ClinGen
ExAC
TOPMed
gnomAD
rs1126627
VAR_010941
CA1470907
1967 N>D No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA345364403
rs1126627
1967 N>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA345364395
rs1262459460
1968 Q>E No ClinGen
gnomAD
rs375302321
CA1470906
1968 Q>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA345364374
rs1321561173
1971 I>V No ClinGen
gnomAD
rs1558176567
CA345364364
1972 S>Y No ClinGen
Ensembl
CA1470904
rs781303735
1974 T>I No ClinGen
ExAC
gnomAD
rs193150310
CA345364334
1975 D>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs193150310
CA1470888
1975 D>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1404996491
CA345364314
1978 F>S No ClinGen
gnomAD
TCGA novel 1979 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs781156435
CA1470886
1981 S>C No ClinGen
ExAC
gnomAD
rs768724570
CA1470885
1982 E>G No ClinGen
ExAC
gnomAD
CA345364281
rs747239592
1983 N>D No ClinGen
ExAC
gnomAD
CA1470884
rs747239592
1983 N>H No ClinGen
ExAC
gnomAD
CA1470883
rs780491577
1983 N>S No ClinGen
ExAC
gnomAD
CA39728090
rs767720192
1986 E>G No ClinGen
Ensembl
rs1425417486
CA345364250
1987 K>R No ClinGen
gnomAD
rs750291302
CA1470881
1989 C>R No ClinGen
ExAC
gnomAD
rs753757381
CA1470878
1993 Q>R No ClinGen
ExAC
gnomAD
rs760107933
CA1470876
1996 L>F No ClinGen
ExAC
gnomAD
rs1244238449
CA345364174
1998 C>G No ClinGen
gnomAD
CA345364165
rs1330695900
1999 L>S No ClinGen
TOPMed
rs554279956
CA1470875
2000 Y>H No ClinGen
ExAC
gnomAD
rs377069832
CA39728000
2002 I>V No ClinGen
gnomAD
CA39727992
rs201968820
2004 L>F No ClinGen
1000Genomes
ExAC
gnomAD
rs201968820
CA1470874
2004 L>I No ClinGen
1000Genomes
ExAC
gnomAD
rs759161350
CA1470873
2004 L>P No ClinGen
ExAC
TOPMed
gnomAD
CA1470872
rs773482506
2005 F>C No ClinGen
ExAC
gnomAD
CA345364125
rs773482506
2005 F>S No ClinGen
ExAC
gnomAD
TCGA novel 2005 F>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs759536976
CA39727976
2008 Q>R No ClinGen
Ensembl
CA345364099
rs1364578060
2009 H>Y No ClinGen
gnomAD
rs770148279
CA1470871
2010 F>L No ClinGen
ExAC
gnomAD
CA345364084
rs1473669843
2011 I>V No ClinGen
gnomAD
CA1470870
rs142962546
2012 S>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA1470869
rs777130681
2013 K>E No ClinGen
ExAC
gnomAD
CA1470868
rs769281615
2013 K>R No ClinGen
ExAC
gnomAD
CA1470867
rs747143393
2015 R>G No ClinGen
ExAC
gnomAD
rs2275687
VAR_010942
CA1470865
2017 E>G confirmed at protein level [UniProt] No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs780258588
CA345364043
2017 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs780258588
CA1470866
2017 E>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1474642659
CA345364031
2019 L>M No ClinGen
TOPMed
gnomAD
rs778592048
CA1470863
2020 M>V No ClinGen
ExAC
TOPMed
gnomAD
rs1266544715
CA345364015
2021 M>V No ClinGen
gnomAD
rs749182893
CA1470861
2023 L>V No ClinGen
ExAC
gnomAD
rs1378460333
CA345363748
2030 R>S No ClinGen
TOPMed
gnomAD
CA39726982
rs868294301
2031 L>R No ClinGen
Ensembl
CA1470836
rs377007553
2032 G>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs377007553
CA39726955
2032 G>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA39726947
rs766115066
2034 E>D No ClinGen
ExAC
TOPMed
gnomAD
rs535809628
CA1470834
2034 E>Q No ClinGen
1000Genomes
ExAC
gnomAD
TCGA novel 2035 E>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs754270047
CA1470831
2036 K>R No ClinGen
ExAC
gnomAD
CA345363696
rs1572030098
2038 Q>H No ClinGen
Ensembl
CA345363685
rs1345230897
2040 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs764511774
CA1470830
2040 R>W No ClinGen
ExAC
gnomAD
rs1269248459
CA345363680
2041 V>L No ClinGen
TOPMed
gnomAD
COSM906028
rs370884856
CA1470829
2042 T>A endometrium [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
CA345363673
rs1321128663
2042 T>R No ClinGen
gnomAD
rs1451759966
CA345363661
2044 H>Y No ClinGen
gnomAD
CA345363655
rs139022059
2045 L>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1470827
rs139022059
2045 L>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1484107335
CA345363641
2047 P>R No ClinGen
TOPMed
rs774279258
CA1470825
2047 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs145985095
CA1470822
2050 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA345363610
rs1189624247
2052 F>I No ClinGen
gnomAD
CA1470821
rs571460036
COSM1296037
2052 F>L urinary_tract [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
CA39726865
rs904429521
2053 S>L No ClinGen
TOPMed
rs1236260623
CA345363604
2053 S>P No ClinGen
gnomAD
TCGA novel 2055 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA345363583
rs1572030032
2056 M>T No ClinGen
Ensembl
CA345363573
rs1202659903
2057 A>V No ClinGen
gnomAD
CA1470817
rs560358292
2058 D>N No ClinGen
1000Genomes
ExAC
gnomAD
CA1470816
rs200320031
2060 S>C No ClinGen
ExAC
TOPMed
gnomAD
CA345363553
rs200320031
2060 S>F No ClinGen
ExAC
TOPMed
gnomAD
CA1470815
rs149145208
2062 W>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA1470814
rs750045686
2068 Q>E No ClinGen
ExAC
TOPMed
gnomAD
CA345363500
rs1450263590
2068 Q>R No ClinGen
TOPMed
gnomAD
rs778294435
CA1470813
2069 I>T No ClinGen
ExAC
gnomAD
rs1279244963
CA345363476
2072 K>R No ClinGen
TOPMed
rs753104315
CA1470811
2073 T>A No ClinGen
ExAC
gnomAD
CA1470810
rs200854169
COSM210457
2073 T>M Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1424446321
CA345363460
2075 D>N No ClinGen
gnomAD
rs751695334
CA1470808
2075 D>V No ClinGen
ExAC
gnomAD
rs763252172
CA345363450
2076 S>C No ClinGen
ExAC
TOPMed
gnomAD
CA1470806
rs763252172
2076 S>F No ClinGen
ExAC
TOPMed
gnomAD
rs6664730
CA1470804
VAR_049335
2077 S>L No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA345363446
rs6664730
2077 S>W No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA345363442
rs1274942821
2078 P>S No ClinGen
gnomAD
rs776388967
CA1470802
2079 K>E No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 2081 R>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs761992655
CA1470781
2081 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs530544216
CA1470780
2083 A>V No ClinGen
1000Genomes
ExAC
gnomAD
CA1470778
rs760672777
2087 T>A No ClinGen
ExAC
gnomAD
CA1470777
rs563013149
2088 V>E No ClinGen
1000Genomes
ExAC
gnomAD
rs150966685
CA39723563
2089 L>V No ClinGen
ESP
TOPMed
gnomAD
CA345363354
rs1426862625
2090 A>V No ClinGen
gnomAD
rs367618061
CA345363353
2091 L>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 2093 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs773972406
CA1470774
2095 L>V No ClinGen
ExAC
gnomAD
CA345363318
rs1210586627
2096 K>R No ClinGen
gnomAD
CA1470773
rs770743522
2097 E>D No ClinGen
ExAC
TOPMed
gnomAD
rs748903503
CA1470772
2098 N>K No ClinGen
ExAC
gnomAD
TCGA novel 2099 Y>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs977899516
CA39723534
2101 V>I No ClinGen
gnomAD
CA1470771
rs781633733
2104 P>R No ClinGen
ExAC
gnomAD
rs770323233
CA39723487
2106 S>F No ClinGen
Ensembl
rs1327569859
CA345363230
2109 F>L No ClinGen
TOPMed
CA345363210
rs1572028364
2112 E>D No ClinGen
Ensembl
rs1296032739
CA345363205
2113 L>S No ClinGen
gnomAD
rs752471097
CA1470728
2116 D>E No ClinGen
ExAC
CA1470730
rs756334857
2116 D>G No ClinGen
ExAC
gnomAD
rs756334857
CA1470729
2116 D>V No ClinGen
ExAC
gnomAD
CA345363155
rs767378258
2117 E>* No ClinGen
ExAC
gnomAD
CA1470726
rs759562725
2117 E>D No ClinGen
ExAC
rs767378258
CA1470727
2117 E>K No ClinGen
ExAC
gnomAD
rs200192734
CA1470725
2118 C>F No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs200192734
CA345363137
2118 C>Y No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA1470724
rs766419632
2120 E>V No ClinGen
ExAC
gnomAD
CA1470722
rs1553279570
2121 V>E No ClinGen
Ensembl
CA1470721
rs148413430
2123 H>R No ClinGen
ESP
ExAC
gnomAD
CA345363042
rs1340543684
2124 Q>H No ClinGen
gnomAD
rs769374782
CA1470719
2129 I>V No ClinGen
ExAC
gnomAD
CA345362921
rs1388482480
2132 L>V No ClinGen
TOPMed
CA1470717
rs2607
2133 E>K No ClinGen
ExAC
gnomAD
CA39722195
rs2607
2133 E>Q No ClinGen
ExAC
gnomAD
CA345362898
rs1408715279
2134 T>A No ClinGen
gnomAD
rs997410827
CA39722172
2137 G>E No ClinGen
gnomAD
rs1328302608
CA345362858
2138 E>Q No ClinGen
TOPMed
rs573400289
CA39722161
2139 P>A No ClinGen
TOPMed
CA1470715
rs746378086
2140 L>F No ClinGen
ExAC
gnomAD
rs771410489
CA1470713
2141 Q>* No ClinGen
ExAC
gnomAD
CA39722155
rs771410489
2141 Q>K No ClinGen
ExAC
gnomAD
rs1572026811
CA345362797
2142 S>N No ClinGen
Ensembl
rs1385865727
CA345362788
2142 S>R No ClinGen
TOPMed
CA345362778
rs1369016226
2143 Y>C No ClinGen
gnomAD

No associated diseases with Q9H583

2 regional properties for Q9H583

Type Name Position InterPro Accession
domain PWWP domain 5 - 86 IPR000313
domain Lens epithelium-derived growth factor, integrase-binding domain 472 - 569 IPR021567

Functions

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

8 GO annotations of cellular component

Name Definition
90S preribosome A large ribonucleoprotein complex considered to be the earliest preribosomal complex. In S. cerevisiae, it has a size of 90S and consists of the 35S pre-rRNA, early-associating ribosomal proteins most of which are part of the small ribosomal subunit, the U3 snoRNA and associated proteins.
fibrillar center A structure found most metazoan nucleoli, but not usually found in lower eukaryotes; surrounded by the dense fibrillar component; the zone of transcription from multiple copies of the pre-rRNA genes is in the border region between these two structures.
membrane A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.
mitochondrion A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration.
nucleolus A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome.
nucleoplasm That part of the nuclear content other than the chromosomes or the nucleolus.
small-subunit processome A large ribonucleoprotein complex that is an early preribosomal complex. In S. cerevisiae, it has a size of 80S and consists of the 35S pre-rRNA, early-associating ribosomal proteins most of which are part of the small ribosomal subunit, the U3 snoRNA and associated proteins.
t-UTP complex A protein complex that forms a subcomplex of the 90S preribosome and is required for the subsequent assembly of the rest of the preribosome. In S. cerevisiae, it is composed of Utp5p, Utp4p, Nan1p, Utp8p, Utp9p, Utp10 and Utp15p.

2 GO annotations of molecular function

Name Definition
RNA binding Binding to an RNA molecule or a portion thereof.
snoRNA binding Binding to a small nucleolar RNA.

3 GO annotations of biological process

Name Definition
maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) Any process involved in the maturation of a precursor Small SubUnit (SSU) ribosomal RNA (rRNA) molecule into a mature SSU-rRNA molecule from the pre-rRNA molecule originally produced as a tricistronic rRNA transcript that contains the Small Subunit (SSU) rRNA, 5.8S rRNA, and the Large Subunit (LSU) in that order from 5' to 3' along the primary transcript.
positive regulation of rRNA processing Any process that activates or increases the frequency, rate or extent of rRNA processing.
positive regulation of transcription by RNA polymerase I Any process that activates or increases the frequency, rate or extent of transcription mediated by RNA polymerase I.

No homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
No homologous proteins
10 20 30 40 50 60
MTSLAQQLQR LALPQSDASL LSRDEVASLL FDPKEAATID RDTAFAIGCT GLEELLGIDP
70 80 90 100 110 120
SFEQFEAPLF SQLAKTLERS VQTKAVNKQL DENISLFLIH LSPYFLLKPA QKCLEWLIHR
130 140 150 160 170 180
FHIHLYNQDS LIACVLPYHE TRIFVRVIQL LKINNSKHRW FWLLPVKQSG VPLAKGTLIT
190 200 210 220 230 240
HCYKDLGFMD FICSLVTKSV KVFAEYPGSS AQLRVLLAFY ASTIVSALVA AEDVSDNIIA
250 260 270 280 290 300
KLFPYIQKGL KSSLPDYRAA TYMIICQISV KVTMENTFVN SLASQIIKTL TKIPSLIKDG
310 320 330 340 350 360
LSCLIVLLQR QKPESLGKKP FPHLCNVPDL ITILHGISET YDVSPLLHYM LPHLVVSIIH
370 380 390 400 410 420
HVTGEETEGM DGQIYKRHLE AILTKISLKN NLDHLLASLL FEEYISYSSQ EEMDSNKVSL
430 440 450 460 470 480
LNEQFLPLIR LLESKYPRTL DVVLEEHLKE IADLKKQELF HQFVSLSTSG GKYQFLADSD
490 500 510 520 530 540
TSLMLSLNHP LAPVRILAMN HLKKIMKTSK EGVDESFIKE AVLARLGDDN IDVVLSAISA
550 560 570 580 590 600
FEIFKEHFSS EVTISNLLNL FQRAELSKNG EWYEVLKIAA DILIKEEILS ENDQLSNQVV
610 620 630 640 650 660
VCLLPFMVIN NDDTESAEMK IAIYLSKSGI CSLHPLLRGW EEALENVIKS TKPGKLIGVA
670 680 690 700 710 720
NQKMIELLAD NINLGDPSSM LKMVEDLISV GEEESFNLKQ KVTFHVILSV LVSCCSSLKE
730 740 750 760 770 780
THFPFAIRVF SLLQKKIKKL ESVITAVEIP SEWHIELMLD RGIPVELWAH YVEELNSTQR
790 800 810 820 830 840
VAVEDSVFLV FSLKKFIYAL KAPKSFPKGD IWWNPEQLKE DSRDYLHLLI GLFEMMLNGA
850 860 870 880 890 900
DAVHFRVLMK LFIKVHLEDV FQLFKFCSVL WTYGSSLSNP LNCSVKTVLQ TQALYVGCAM
910 920 930 940 950 960
LSSQKTQCKH QLASISSPVV TSLLINLGSP VKEVRRAAIQ CLQALSGVAS PFYLIIDHLI
970 980 990 1000 1010 1020
SKAEEITSDA AYVIQDLATL FEELQREKKL KSHQKLSETL KNLLSCVYSC PSYIAKDLMK
1030 1040 1050 1060 1070 1080
VLQGVNGEMV LSQLLPMAEQ LLEKIQKEPT AVLKDEAMVL HLTLGKYNEF SVSLLNEDPK
1090 1100 1110 1120 1130 1140
SLDIFIKAVH TTKELYAGMP TIQITALEKI TKPFFAAISD EKVQQKLLRM LFDLLVNCKN
1150 1160 1170 1180 1190 1200
SHCAQTVSSV FKGISVNAEQ VRIELEPPDK AKPLGTVQQK RRQKMQQKKS QDLESVQEVG
1210 1220 1230 1240 1250 1260
GSYWQRVTLI LELLQHKKKL RSPQILVPTL FNLLSRCLEP LPQEQGNMEY TKQLILSCLL
1270 1280 1290 1300 1310 1320
NICQKLSPDG GKIPKDILDE EKFNVELIVQ CIRLSEMPQT HHHALLLLGT VAGIFPDKVL
1330 1340 1350 1360 1370 1380
HNIMSIFTFM GANVMRLDDT YSFQVINKTV KMVIPALIQS DSGDSIEVSR NVEEIVVKII
1390 1400 1410 1420 1430 1440
SVFVDALPHV PEHRRLPILV QLVDTLGAEK FLWILLILLF EQYVTKTVLA AAYGEKDAIL
1450 1460 1470 1480 1490 1500
EADTEFWFSV CCEFSVQHQI QSLMNILQYL LKLPEEKEET IPKAVSFNKS ESQEEMLQVF
1510 1520 1530 1540 1550 1560
NVETHTSKQL RHFKFLSVSF MSQLLSSNNF LKKVVESGGP EILKGLEERL LETVLGYISA
1570 1580 1590 1600 1610 1620
VAQSMERNAD KLTVKFWRAL LSKAYDLLDK VNALLPTETF IPVIRGLVGN PLPSVRRKAL
1630 1640 1650 1660 1670 1680
DLLNNKLQQN ISWKKTIVTR FLKLVPDLLA IVQRKKKEGE EEQAINRQTA LYTLKLLCKN
1690 1700 1710 1720 1730 1740
FGAENPDPFV PVLNTAVKLI APERKEEKNV LGSALLCIAE VTSTLEALAI PQLPSLMPSL
1750 1760 1770 1780 1790 1800
LTTMKNTSEL VSSEVYLLSA LAALQKVVET LPHFISPYLE GILSQVIHLE KITSEMGSAS
1810 1820 1830 1840 1850 1860
QANIRLTSLK KTLATTLAPR VLLPAIKKTY KQIEKNWKNH MGPFMSILQE HIGVMKKEEL
1870 1880 1890 1900 1910 1920
TSHQSQLTAF FLEALDFRAQ HSENDLEEVG KTENCIIDCL VAMVVKLSEV TFRPLFFKLF
1930 1940 1950 1960 1970 1980
DWAKTEDAPK DRLLTFYNLA DCIAEKLKGL FTLFAGHLVK PFADTLNQVN ISKTDEAFFD
1990 2000 2010 2020 2030 2040
SENDPEKCCL LLQFILNCLY KIFLFDTQHF ISKERAEALM MPLVDQLENR LGGEEKFQER
2050 2060 2070 2080 2090 2100
VTKHLIPCIA QFSVAMADDS LWKPLNYQIL LKTRDSSPKV RFAALITVLA LAEKLKENYI
2110 2120 2130 2140
VLLPESIPFL AELMEDECEE VEHQCQKTIQ QLETVLGEPL QSYF