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

7 structures for P11277

Entry ID Method Resolution Chain Position Source
1S35 X-ray 240 A A 1063-1275 PDB
3EDU X-ray 210 A A 1692-1907 PDB
3F57 X-ray 290 A A/B 1686-1907 PDB
3KBT X-ray 275 A A/B 1583-1906 PDB
3KBU X-ray 275 A A/B 1583-1906 PDB
3LBX X-ray 280 A B 1902-2084 PDB
AF-P11277-F1 Predicted AlphaFoldDB

1730 variants for P11277

Variant ID(s) Position Change Description Diseaes Association Provenance
rs121918651
RCV000013693
RCV001000731
RCV001781258
1 M>V Hereditary spherocytosis type 2 [ClinVar] Yes ClinVar
dbSNP
rs753928319
CA7231565
RCV000355095
RCV000297871
6 E>D Spherocytosis, Dominant [ClinVar] Yes ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
RCV001753775
RCV001329812
rs138437526
RCV000263879
RCV000356316
CA7231564
9 N>T Elliptocytosis 3 Spherocytosis, Dominant [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV000290958
RCV000383070
CA7231512
rs757763783
74 R>H Variant assessed as Somatic; 0.0 impact. Spherocytosis, Dominant [NCI-TCGA, ClinVar] Yes ClinGen
ClinVar
ExAC
NCI-TCGA
TOPMed
dbSNP
gnomAD
rs2082930394
RCV001812264
RCV001262268
138 I>T Hereditary spherocytosis type 2 [ClinVar] Yes ClinVar
dbSNP
rs121918646
VAR_001352
CA122736
RCV000013684
202 W>R Hereditary spherocytosis type 2 SPH2; spectrin Kissimmee [ClinVar, UniProt] Yes ClinGen
ClinVar
UniProt
Ensembl
dbSNP
rs1555371769
RCV003133483
RCV000655908
CA390031881
216 R>Q Hereditary spherocytosis type 2 [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
CA7231385
RCV000403154
COSM1370636
rs764534275
RCV000306714
216 R>W Variant assessed as Somatic; 0.0 impact. large_intestine Spherocytosis, Dominant [NCI-TCGA, Cosmic, ClinVar] Yes ClinGen
cosmic curated
ClinVar
ExAC
NCI-TCGA
TOPMed
dbSNP
gnomAD
RCV000352235
RCV002520912
CA7231326
RCV000406739
rs138841945
258 T>M Spherocytosis, Dominant Variant assessed as Somatic; 0.0007865 impact. Inborn genetic diseases [ClinVar, NCI-TCGA] Yes ClinGen
ClinVar
ESP
ExAC
NCI-TCGA
TOPMed
dbSNP
gnomAD
RCV001810559
rs143599352
CA7231311
RCV001336807
291 G>S Elliptocytosis 3 [ClinVar] Yes ClinGen
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA10635092
RCV000373860
RCV000321491
rs886050627
314 L>V Spherocytosis, Dominant [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
rs146651264
CA7231269
RCV000282927
RCV000379719
316 T>I Spherocytosis, Dominant [ClinVar] Yes ClinGen
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs141973081
CA7231248
RCV000329227
RCV000362952
350 V>M Spherocytosis, Dominant [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA7231162
RCV000405894
RCV000311567
rs780179918
429 R>Q Variant assessed as Somatic; 0.0 impact. Spherocytosis, Dominant [NCI-TCGA, ClinVar] Yes ClinGen
ClinVar
ExAC
NCI-TCGA
TOPMed
dbSNP
gnomAD
CA7231158
rs149521594
RCV000298689
RCV001812817
RCV000369811
435 E>Q Spherocytosis, Dominant [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV000338831
RCV000243276
RCV001808673
VAR_001353
RCV000391473
RCV001640502
CA7231156
rs229587
439 S>N Hereditary spherocytosis type 2 Spherocytosis, Dominant [ClinVar] Yes ClinGen
ClinVar
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV000391465
RCV000281463
COSM171755
RCV003137921
rs752079707
CA7231152
443 R>H large_intestine Spherocytosis, Dominant [Cosmic, ClinVar] Yes ClinGen
cosmic curated
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
RCV000655907
rs1555370967
444 L>missing Hereditary spherocytosis type 2 [ClinVar] Yes ClinVar
dbSNP
RCV000340064
RCV000287358
COSM106657
rs150698819
CA7231132
448 D>N Spherocytosis, Dominant skin [ClinVar, Cosmic] Yes ClinGen
cosmic curated
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
RCV000382998
CA7231103
RCV001329810
RCV000291040
RCV002261046
rs140796444
498 R>H Spherocytosis, Dominant Pyropoikilocytosis, hereditary [ClinVar] Yes ClinGen
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV001002601
rs755636829
RCV000273442
RCV000330884
CA7231096
RCV003137920
502 R>C Spherocytosis, Dominant [ClinVar] Yes ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs886050625
RCV002522315
RCV000354950
CA10640616
RCV000260602
521 R>C Spherocytosis, Dominant Inborn genetic diseases [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
CA7231079
rs145315673
RCV000403028
RCV000300035
526 T>I Spherocytosis, Dominant [ClinVar] Yes ClinGen
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV000303487
RCV000358248
rs145675502
RCV001329811
RCV001812815
CA7231074
536 D>N Elliptocytosis 3 Spherocytosis, Dominant [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA7231024
RCV000408007
RCV002520911
rs61459051
RCV000306950
589 A>T Spherocytosis, Dominant [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV000385612
RCV000349718
CA10645723
rs886050623
599 G>E Spherocytosis, Dominant [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
RCV000251527
RCV001812688
RCV000295049
VAR_038514
rs3742601
RCV000389341
CA7230994
613 S>I Spherocytosis, Dominant [ClinVar] Yes ClinGen
ClinVar
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs863223304
RCV000013694
638 R>missing Hereditary spherocytosis type 2 [ClinVar] Yes ClinVar
dbSNP
RCV000243750
rs3742602
RCV000304071
RCV001812689
RCV000267682
CA7230958
COSM1607859
687 R>H liver Spherocytosis, Dominant [Cosmic, ClinVar] Yes ClinGen
cosmic curated
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs755434241
RCV000307726
CA7230947
RCV000362442
703 M>T Spherocytosis, Dominant [ClinVar] Yes ClinGen
ClinVar
ExAC
dbSNP
gnomAD
rs184962510
CA7230944
RCV001859879
RCV000349076
RCV000403276
706 R>C Spherocytosis, Dominant [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV000393004
rs538347576
RCV003137919
RCV000312823
CA7230932
717 R>C Spherocytosis, Dominant [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
rs867858924
RCV000373232
RCV000337297
CA10640611
730 D>N Spherocytosis, Dominant Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] Yes ClinGen
ClinVar
Ensembl
NCI-TCGA
dbSNP
RCV000322302
RCV000267188
CA7230900
rs147712872
RCV001812812
768 G>D Spherocytosis, Dominant [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
RCV000380614
rs886050621
CA10645713
RCV000326052
807 Q>E Spherocytosis, Dominant [ClinVar] Yes ClinGen
ClinVar
TOPMed
dbSNP
RCV000270879
CA7230869
rs144219025
RCV002520910
RCV000365504
814 R>Q Spherocytosis, Dominant Inborn genetic diseases [ClinVar] Yes ClinGen
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV001811601
rs146326769
CA7230848
RCV002249612
RCV001257426
840 R>H Hereditary spherocytosis type 2 [ClinVar] Yes ClinGen
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV000313348
RCV000368002
RCV002520909
CA7230823
rs146031194
886 V>L Spherocytosis, Dominant [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1555369657
CA390047744
RCV001784220
RCV000655909
955 R>* Hereditary spherocytosis type 2 [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
RCV003137918
rs764571605
RCV000298942
RCV000404059
CA7230723
993 I>M Spherocytosis, Dominant [ClinVar] Yes ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs1047765
RCV000392924
CA7230689
RCV000342059
1031 D>Y Spherocytosis, Dominant [ClinVar] Yes ClinGen
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV000286900
RCV002261045
RCV000381318
rs143827332
CA7230688
1035 R>W Spherocytosis, Dominant [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV000326706
rs374648585
CA7230658
RCV000290473
1104 A>G Spherocytosis, Dominant [ClinVar] Yes ClinGen
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV000331133
RCV001812810
RCV000385687
rs141173028
CA7230634
1142 R>Q Spherocytosis, Dominant [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs77806
VAR_001354
RCV001808676
RCV000370587
RCV000251016
RCV000276049
CA7230628
RCV001539178
1151 N>D Hereditary spherocytosis type 2 Spherocytosis, Dominant [ClinVar] Yes ClinGen
ClinVar
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs76283214
CA7230618
RCV000316138
RCV001507849
RCV001001522
RCV000260948
1160 R>H Spherocytosis, Dominant [ClinVar] Yes ClinGen
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV000355761
rs886050620
CA10645701
RCV002522314
RCV000300914
1179 Q>R Spherocytosis, Dominant Inborn genetic diseases [ClinVar] Yes ClinGen
ClinVar
TOPMed
dbSNP
RCV000995192
rs149186357
RCV002249601
CA7230553
1227 P>S Hereditary spherocytosis type 2 [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV000984331
rs1594773586
1262 K>missing Hereditary spherocytosis type 2 [ClinVar] Yes ClinVar
dbSNP
rs150471537
RCV001507847
CA7230456
RCV000655913
1306 R>* Hereditary spherocytosis type 2 [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ESP
ExAC
dbSNP
gnomAD
RCV000766108
rs1566754467
CA390045083
1355 E>* Hereditary spherocytosis [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
CA7230409
rs199780681
RCV003137917
RCV000332747
RCV000296462
1359 R>Q Spherocytosis, Dominant [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
RCV000387164
RCV001507844
RCV000292952
rs189656371
CA7230410
1359 R>W Spherocytosis, Dominant [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs760803657
CA7230403
RCV001329813
RCV002290996
1369 K>E Elliptocytosis 3 Hereditary spherocytosis type 2 [ClinVar] Yes ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs10132778
CA7230399
RCV000241653
RCV000317379
RCV001812693
VAR_001355
RCV000372015
1374 H>R Spherocytosis, Dominant [ClinVar] Yes ClinGen
ClinVar
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
VAR_001356
RCV000321241
rs17180350
RCV000250003
RCV000266118
RCV001533862
CA7230380
1403 R>Q Spherocytosis, Dominant [ClinVar] Yes ClinGen
ClinVar
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV000241782
rs17245552
VAR_038515
RCV000306018
RCV000360695
RCV001707581
CA7230374
1408 G>R Spherocytosis, Dominant [ClinVar] Yes ClinGen
ClinVar
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV002290981
CA390044638
RCV001002577
RCV001784539
rs1594767593
TCGA novel
1423 R>* Hereditary spherocytosis type 2 Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] Yes ClinGen
ClinVar
NCI-TCGA
Ensembl
dbSNP
RCV000313273
CA10640603
rs886050618
RCV000349400
1450 G>V Spherocytosis, Dominant [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
RCV002056405
rs200876438
RCV000349127
CA7230289
RCV000291893
1504 A>V Spherocytosis, Dominant [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
RCV000261981
rs886050617
CA10640601
RCV000354478
1536 D>H Spherocytosis, Dominant [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
RCV000351040
CA7230228
rs760176952
RCV000312530
1551 D>Y Spherocytosis, Dominant [ClinVar] Yes ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
RCV000283035
CA7230185
rs375478086
RCV000375251
1613 P>S Spherocytosis, Dominant [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs886050615
RCV000307239
CA10635081
RCV000364199
1704 Q>H Spherocytosis, Dominant [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
RCV000284990
CA7230014
rs772761835
RCV000391797
1752 A>G Spherocytosis, Dominant [ClinVar] Yes ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
RCV001508363
RCV000013696
rs267607086
CA210954
1756 R>* Hereditary spherocytosis type 2 [ClinVar] Yes ClinGen
ClinVar
dbSNP
gnomAD
CA7230001
RCV000316717
rs756366285
RCV000373712
1765 A>V Spherocytosis, Dominant [ClinVar] Yes ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs200386310
CA7229963
RCV000490389
1819 E>* Hereditary spherocytosis type 2 [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
rs201267737
CA7229962
RCV002522313
RCV000366566
RCV000328227
1819 E>V Spherocytosis, Dominant Inborn genetic diseases [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
RCV000305906
RCV000507342
RCV002520908
RCV001508362
rs200508249
RCV000397120
CA7229960
1823 D>N Spherocytosis, Dominant Inborn genetic diseases [ClinVar] Yes ClinGen
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV000359511
rs886050613
CA10644518
RCV000302354
1844 E>Q Spherocytosis, Dominant [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
rs1555367359
RCV000655914
CA390040503
1875 Q>* Hereditary spherocytosis type 2 [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
CA7229903
rs148337824
RCV001091049
RCV001329814
1884 A>V Elliptocytosis 3 [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV000350974
CA7229864
rs773780733
RCV000293689
1925 Q>H Spherocytosis, Dominant [ClinVar] Yes ClinGen
ClinVar
ExAC
dbSNP
gnomAD
RCV000290321
RCV000381850
RCV002522312
RCV001812809
rs764560431
CA7229849
1937 S>C Spherocytosis, Dominant Inborn genetic diseases [ClinVar] Yes ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
RCV001812808
RCV001329815
RCV000268024
RCV000325444
rs140141633
CA7229832
1972 R>Q Elliptocytosis 3 Spherocytosis, Dominant [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV001089553
rs2082214097
2014 F>C Elliptocytosis 3 [ClinVar] Yes ClinVar
dbSNP
rs121918647
CA122738
RCV000013686
VAR_001357
RCV000013687
2018 A>G Elliptocytosis 3 Pyropoikilocytosis, hereditary (hpp) Pyropoikilocytosis, hereditary EL3; Cagliary [ClinVar, Ensembl, UniProt] Yes ClinGen
ClinVar
UniProt
Ensembl
dbSNP
CA122740
RCV002513020
RCV001004906
VAR_001358
RCV000013688
rs121918648
2019 S>P Elliptocytosis 3 Hereditary spherocytosis type 2 EL3; Providence [ClinVar, UniProt] Yes ClinGen
ClinVar
UniProt
Ensembl
dbSNP
rs367841692
VAR_001359
COSM3769482
CA7229762
2023 A>V pancreas EL3; Paris [Cosmic, UniProt] Yes ClinGen
cosmic curated
UniProt
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA390039499
rs1225539653
CA390039498
VAR_001360
2024 W>R EL3; Linguere [UniProt] Yes ClinGen
UniProt
dbSNP
gnomAD
COSM1515970
RCV003129752
RCV001004904
VAR_001361
rs121918649
RCV000013691
CA122743
2025 L>R lung Hereditary spherocytosis type 2 ANEMIA, PERINATAL HEMOLYTIC, FATAL OR NEAR-FATAL EL3; Buffalo [Cosmic, ClinVar, UniProt] Yes ClinGen
cosmic curated
ClinVar
UniProt
Ensembl
dbSNP
CA390039437
RCV000625738
rs1555366607
2032 L>P Hereditary spherocytosis [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
RCV001089997
rs1345709572
2040 T>I Hereditary spherocytosis type 2 [ClinVar] Yes ClinVar
dbSNP
rs863223303
RCV000013682
2046 K>missing Elliptocytosis 3 [ClinVar] Yes ClinVar
dbSNP
VAR_001362
rs121918645
RCV001781257
RCV000013679
CA122734
2053 A>P Elliptocytosis 3 EL3; Kayes [ClinVar, UniProt] Yes ClinGen
ClinVar
UniProt
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1594753904
RCV000013683
2060 S>missing Elliptocytosis 3 [ClinVar] Yes ClinVar
dbSNP
rs1690651311
RCV001329816
2061 W>G Elliptocytosis 3 [ClinVar] Yes ClinVar
dbSNP
RCV000013692
CA122745
rs121918650
2064 R>P Elliptocytosis 3 [ClinVar] Yes ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
RCV000626334
rs1555366592
2066 A>missing Hereditary spherocytosis [ClinVar] Yes ClinVar
dbSNP
RCV000349988
rs200787781
RCV003137916
CA7229718
RCV000403325
2079 R>H Spherocytosis, Dominant [ClinVar] Yes ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
CA262681632
rs372733273
RCV000655915
2091 P>T Congenital hemolytic anemia [ClinVar] Yes ClinGen
ClinVar
ESP
TOPMed
dbSNP
gnomAD
rs750322310
CA7231568
2 T>A No ClinGen
ExAC
gnomAD
CA390038475
rs1367842585
3 S>L No ClinGen
gnomAD
CA7231561
rs147059670
14 P>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1489551959
CA390038394
15 P>R No ClinGen
gnomAD
rs774891298
CA7231559
18 R>K No ClinGen
ExAC
gnomAD
rs759868093
CA7231560
18 R>W No ClinGen
ExAC
gnomAD
rs771406838
CA7231558
19 I>L No ClinGen
ExAC
TOPMed
gnomAD
rs1225208646
CA390038367
19 I>M No ClinGen
gnomAD
CA7231557
rs761373465
19 I>T No ClinGen
ExAC
gnomAD
CA390038362
rs1306400678
20 N>S No ClinGen
gnomAD
rs199850904
CA7231556
22 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs200116664
CA7231555
22 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA262667774
rs200116664
22 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA390038348
rs1302184341
23 W>R No ClinGen
gnomAD
rs771875005
CA7231552
25 A>S No ClinGen
ExAC
gnomAD
rs771875005
CA7231553
25 A>T No ClinGen
ExAC
gnomAD
rs745686199
CA7231551
25 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA7231549
rs369115877
28 D>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs777962458
CA7231547
29 E>K No ClinGen
ExAC
gnomAD
CA7231543
rs767892082
34 N>S No ClinGen
ExAC
gnomAD
rs375967688
CA390038238
38 R>S Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs527744961
CA7231540
39 L>F No ClinGen
1000Genomes
ExAC
gnomAD
rs1351487127
CA390038201
44 R>Q No ClinGen
TOPMed
gnomAD
rs1228690182
CA390038202
44 R>W Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA7231537
rs768103906
45 I>L No ClinGen
ExAC
gnomAD
CA262667740
rs1024996523
45 I>M No ClinGen
TOPMed
gnomAD
CA390038185
rs1336011098
47 A>T No ClinGen
TOPMed
CA390036257
rs1157089669
51 E>G No ClinGen
TOPMed
gnomAD
rs751809792
CA7231523
51 E>K No ClinGen
ExAC
CA390036255
rs1157089669
51 E>V No ClinGen
TOPMed
gnomAD
RCV001002390
CA390036241
rs1452760098
52 R>L No ClinGen
ClinVar
dbSNP
gnomAD
RCV000756716
CA390036242
rs1452760098
52 R>Q No ClinGen
ClinVar
dbSNP
gnomAD
RCV001027528
rs1594796374
CA390036247
52 R>W No ClinGen
ClinVar
Ensembl
dbSNP
rs191611922
CA262658556
59 T>I No ClinGen
1000Genomes
CA390036162
rs1594796364
59 T>P No ClinGen
Ensembl
CA7231521
rs532240291
61 T>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1428890712
CA390036127
64 V>M No ClinGen
TOPMed
CA390036117
rs1594796326
65 N>T No ClinGen
Ensembl
CA390036110
rs1242475998
66 S>L No ClinGen
TOPMed
gnomAD
rs1242475998
CA390036108
66 S>W No ClinGen
TOPMed
gnomAD
CA390036104
rs1594796304
67 H>P No ClinGen
Ensembl
rs760171132
CA7231518
67 H>Q No ClinGen
ExAC
gnomAD
CA262658548
rs767062363
69 A>D No ClinGen
ExAC
gnomAD
rs1204232304
CA390036093
69 A>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs1204232304
CA390036095
69 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA7231516
rs767062363
69 A>V No ClinGen
ExAC
gnomAD
RCV001812372
CA390036090
rs1566775577
70 R>* Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ClinVar
Ensembl
NCI-TCGA
dbSNP
CA390036088
rs1293036930
70 R>P No ClinGen
gnomAD
CA390036089
rs1293036930
70 R>Q No ClinGen
gnomAD
CA7231515
rs199910491
71 V>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs774078629
CA7231514
72 S>P No ClinGen
ExAC
gnomAD
rs575005279
CA7231513
74 R>C No ClinGen
1000Genomes
ExAC
gnomAD
CA7231510
rs769910649
75 I>V No ClinGen
ExAC
gnomAD
COSM957080
rs781066541
CA7231508
77 D>N Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs747147135
CA7231506
80 K>E No ClinGen
ExAC
TOPMed
gnomAD
CA7231503
rs750849788
83 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs758726427
CA7231504
83 R>W No ClinGen
ExAC
TOPMed
gnomAD
COSM194079
CA390035955
rs1407023521
86 R>C large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
CA7231502
COSM1370638
rs200814297
86 R>H Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA7231501
rs757698672
87 M>V No ClinGen
ExAC
gnomAD
rs1594796144
CA390035823
94 V>G No ClinGen
Ensembl
rs754403061
CA7231500
98 E>D No ClinGen
ExAC
gnomAD
rs1173811332
CA390035453
101 P>A No ClinGen
gnomAD
CA390035401
rs1468904056
102 K>M No ClinGen
TOPMed
gnomAD
rs761715254
CA7231474
104 T>S No ClinGen
ExAC
rs768703842
CA7231472
107 K>N No ClinGen
ExAC
gnomAD
CA7231473
rs376388962
107 K>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs139094636
COSM1477703
CA7231471
109 R>C Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA7231469
rs772172809
109 R>H No ClinGen
ExAC
gnomAD
CA7231470
rs772172809
109 R>L No ClinGen
ExAC
gnomAD
rs1285245929
CA390035134
112 C>F No ClinGen
TOPMed
gnomAD
CA7231464
rs778131856
118 K>R No ClinGen
ExAC
gnomAD
rs1278859505
CA390035021
119 A>S No ClinGen
gnomAD
CA262657409
rs1027165019
120 L>F No ClinGen
Ensembl
rs756588085
CA7231463
124 K>R No ClinGen
ExAC
TOPMed
gnomAD
CA7231462
rs371715699
127 R>C No ClinGen
ESP
ExAC
gnomAD
CA7231461
rs779669473
127 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs897283858
CA262657394
133 M>T No ClinGen
Ensembl
rs11623956
CA7231459
136 H>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1566774323
CA390034668
137 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
rs1406317876
CA390034534
143 H>N No ClinGen
gnomAD
CA390034516
rs1158489255
143 H>Q No ClinGen
TOPMed
gnomAD
rs547207486
CA7231456
144 R>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
COSM176865
CA390034501
rs1245522195
144 R>H Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs2082929857
RCV001812430
148 G>D No ClinVar
dbSNP
CA390034450
rs1460952313
148 G>S No ClinGen
gnomAD
CA7231453
rs775430901
156 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs767566180
COSM3401412
CA7231452
156 R>H Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA390032994
rs1301821602
162 I>L No ClinGen
gnomAD
rs1301821602
CA390032992
162 I>V No ClinGen
gnomAD
CA7231424
rs773327035
164 V>I No ClinGen
ExAC
gnomAD
CA390032915
rs1413773421
165 Q>H No ClinGen
TOPMed
CA262656394
rs370778123
170 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
NCI-TCGA
TOPMed
gnomAD
CA7231422
rs745450272
170 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs370778123
CA390032817
170 R>S No ClinGen
ESP
TOPMed
gnomAD
rs777269456
CA7231421
172 T>I No ClinGen
ExAC
TOPMed
gnomAD
CA390032789
rs1423149594
172 T>P No ClinGen
gnomAD
rs769340592
CA7231420
173 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs146355737
CA7231417
COSM3386637
173 R>H pancreas [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
rs146355737
CA7231418
173 R>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs146355737
CA7231419
173 R>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1221464632
CA390032731
174 S>L No ClinGen
TOPMed
gnomAD
CA262656368
rs1021832540
180 L>M No ClinGen
TOPMed
gnomAD
CA390032447
rs1217589697
185 M>K No ClinGen
TOPMed
rs777334501
CA7231415
186 K>R No ClinGen
ExAC
gnomAD
CA7231414
rs184200762
187 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA390032390
rs1192490558
188 A>S No ClinGen
TOPMed
CA7231396
rs369779185
190 Y>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs747805892
CA7231395
191 P>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA390032189
rs866674387
192 H>P No ClinGen
TOPMed
gnomAD
CA262656056
rs866674387
192 H>R No ClinGen
TOPMed
gnomAD
rs1566772668
CA390032084
200 S>C No ClinGen
Ensembl
CA7231393
rs754789252
202 W>L No ClinGen
ExAC
TOPMed
gnomAD
rs74666863
CA390032047
203 K>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA7231391
rs144388267
204 D>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs765367830
CA7231388
210 A>S No ClinGen
ExAC
gnomAD
rs762057472
CA7231387
211 L>V No ClinGen
ExAC
gnomAD
CA390031929
rs1353549870
213 H>Y No ClinGen
gnomAD
rs754140720
CA7231386
215 H>Q No ClinGen
ExAC
CA390031024
rs1186772948
218 D>E No ClinGen
TOPMed
CA7231362
rs200062689
218 D>N Variant assessed as Somatic; 0.0006492 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1566772276
CA390031000
RCV000761884
219 L>P No ClinGen
ClinVar
Ensembl
dbSNP
rs542040700
CA262655613
219 L>V No ClinGen
1000Genomes
ExAC
gnomAD
CA390030985
rs1369788122
220 I>M No ClinGen
TOPMed
CA7231359
rs768355411
221 D>N No ClinGen
ExAC
gnomAD
CA390030910
rs1314374830
223 D>G No ClinGen
TOPMed
CA262655600
rs200628112
229 N>S No ClinGen
Ensembl
CA390030746
rs1289830655
231 R>Q No ClinGen
TOPMed
gnomAD
CA7231354
rs138253722
231 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA390030722
rs1256386270
235 E>K No ClinGen
gnomAD
CA7231351
rs540089964
237 A>T No ClinGen
1000Genomes
ExAC
gnomAD
rs756224667
CA7231350
239 N>S No ClinGen
ExAC
gnomAD
rs1010852820
CA262655552
241 A>S No ClinGen
TOPMed
rs752995009
CA7231349
COSM303293
243 R>C liver central_nervous_system Variant assessed as Somatic; 4.631e-05 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs767726807
CA7231348
243 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs1169509545
CA390030647
246 G>D No ClinGen
gnomAD
rs147062348
CA7231347
247 I>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1485478824
CA390030626
249 P>L No ClinGen
TOPMed
CA390030608
rs1594791834
252 D>A No ClinGen
Ensembl
CA390030606
rs1246616403
252 D>E No ClinGen
gnomAD
CA390030603
rs1183242252
253 P>S No ClinGen
gnomAD
CA390030567
rs1461856269
256 V>I No ClinGen
gnomAD
rs750955903
CA7231324
259 E>G No ClinGen
ExAC
gnomAD
rs267604024
CA262655174
COSM135653
259 E>K Variant assessed as Somatic; impact. skin [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
Ensembl
NCI-TCGA
rs763460080
CA7231323
260 N>D No ClinGen
ExAC
gnomAD
CA7231322
rs760278236
263 E>K No ClinGen
ExAC
gnomAD
CA7231321
rs752289369
267 I>L No ClinGen
ExAC
gnomAD
rs752289369
CA390030493
267 I>V No ClinGen
ExAC
gnomAD
CA262655152
rs1054520140
275 H>Q No ClinGen
TOPMed
gnomAD
CA7231319
rs759127935
276 Y>C No ClinGen
ExAC
TOPMed
gnomAD
rs759127935
CA390030428
276 Y>F No ClinGen
ExAC
TOPMed
gnomAD
CA262655138
rs776564000
COSM957078
277 F>L endometrium [Cosmic] No ClinGen
cosmic curated
Ensembl
rs778701629
COSM3386635
CA7231318
278 S>F pancreas [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
CA7231317
rs770880582
279 K>R No ClinGen
ExAC
gnomAD
rs762936267
CA390030405
280 M>L No ClinGen
ExAC
gnomAD
rs1204218223
CA390030402
280 M>R No ClinGen
TOPMed
rs1204218223
CA390030403
280 M>T No ClinGen
TOPMed
rs762936267
CA7231316
280 M>V No ClinGen
ExAC
gnomAD
CA7231315
rs151022993
282 V>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7231314
rs151022993
282 V>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1566771680
CA390030381
284 A>T No ClinGen
Ensembl
CA390030371
rs1486458426
285 V>A No ClinGen
TOPMed
rs748325242
CA7231313
285 V>M No ClinGen
ExAC
gnomAD
rs1179544605
CA390030348
289 R>C No ClinGen
TOPMed
CA7231284
rs749794973
295 D>A No ClinGen
ExAC
gnomAD
rs771520744
CA7231283
CA262654484
295 D>E No ClinGen
ExAC
gnomAD
CA7231282
rs754585879
296 H>Y No ClinGen
ExAC
gnomAD
CA262654477
rs1002035329
298 I>T No ClinGen
Ensembl
rs1594790275
CA390030144
298 I>V No ClinGen
Ensembl
rs1594790255
RCV001000873
301 E>missing No ClinVar
dbSNP
CA262654464
rs967975857
302 K>E No ClinGen
gnomAD
rs748115462
CA262654457
302 K>M No ClinGen
Ensembl
rs967975857
CA390030073
302 K>Q No ClinGen
gnomAD
CA7231281
rs368472797
303 M>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA262654455
rs1022539299
303 M>K No ClinGen
TOPMed
CA390030047
rs1022539299
303 M>T No ClinGen
TOPMed
rs766203211
CA7231280
305 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs892191009
CA262654431
307 Y>C No ClinGen
Ensembl
rs559699714
CA262654440
307 Y>H No ClinGen
Ensembl
rs568301999
CA7231278
308 S>N No ClinGen
1000Genomes
ExAC
gnomAD
rs1434727098
CA390029965
309 G>A No ClinGen
TOPMed
gnomAD
rs199658725
CA7231275
309 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs199658725
CA7231276
309 G>W No ClinGen
ExAC
TOPMed
gnomAD
rs764135314
CA7231274
311 A>T No ClinGen
ExAC
gnomAD
CA7231272
rs775682407
312 S>L No ClinGen
ExAC
gnomAD
rs1387815749
CA390029926
313 D>E No ClinGen
gnomAD
CA390029943
rs1196226577
313 D>N No ClinGen
gnomAD
CA7231270
rs746095514
314 L>P No ClinGen
ExAC
gnomAD
CA390029919
rs746095514
314 L>R No ClinGen
ExAC
gnomAD
rs1566770865
CA390029882
317 W>L No ClinGen
Ensembl
CA262654361
COSM957076
rs1024800811
319 E>K Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs202239352
CA7231267
322 I>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1374707569
CA390029614
323 T>I No ClinGen
gnomAD
rs1424410096
CA390029585
324 V>A No ClinGen
gnomAD
rs1333389950
CA390029599
324 V>I No ClinGen
gnomAD
CA7231264
RCV001812968
rs143293179
328 R>C Variant assessed as Somatic; 9.24e-05 impact. [NCI-TCGA] No ClinGen
ClinVar
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
dbSNP
gnomAD
rs779720812
CA7231263
328 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1175103350
CA390029315
332 N>S No ClinGen
gnomAD
CA7231261
rs750069570
333 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA7231259
rs200381147
335 T>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1205242254
CA390029197
336 G>D No ClinGen
gnomAD
rs1197265603
CA390029165
337 V>A No ClinGen
gnomAD
rs1009915997
COSM433257
CA262654244
337 V>I Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
CA7231255
rs149837193
343 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1238023863
CA390028901
345 S>C No ClinGen
TOPMed
gnomAD
CA390028879
rs1376322051
346 T>I No ClinGen
gnomAD
CA390028888
rs1594789979
346 T>P No ClinGen
Ensembl
CA390028880
rs1376322051
346 T>S No ClinGen
gnomAD
CA7231252
rs139871838
348 R>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA7231253
rs139871838
348 R>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA7231251
rs373606427
348 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7231250
rs763297500
349 T>I No ClinGen
ExAC
gnomAD
rs1355427206
CA390028711
352 K>N No ClinGen
TOPMed
CA7231247
rs748666173
353 P>L No ClinGen
ExAC
gnomAD
CA7231245
rs771726421
354 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA390028678
rs1566770599
354 P>S No ClinGen
Ensembl
CA390027165
rs1211685510
358 E>D No ClinGen
TOPMed
gnomAD
rs376523884
CA7231222
362 L>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7231221
rs749002006
362 L>Q No ClinGen
ExAC
TOPMed
gnomAD
CA390027033
rs1594787727
365 L>R No ClinGen
Ensembl
CA390026982
rs1594787713
368 T>P No ClinGen
Ensembl
rs752604792
CA7231218
369 I>F No ClinGen
ExAC
gnomAD
CA390026936
rs1594787698
370 Q>K No ClinGen
Ensembl
rs781176597
CA7231217
370 Q>R No ClinGen
ExAC
gnomAD
rs200215995
CA7231216
372 R>Q No ClinGen
1000Genomes
ExAC
gnomAD
rs1019802326
CA262651986
372 R>W No ClinGen
TOPMed
CA390026855
rs1167992290
373 M>I No ClinGen
gnomAD
rs1466812782
CA390026849
374 R>G No ClinGen
TOPMed
gnomAD
RCV001000816
CA390026837
rs1594787664
374 R>S No ClinGen
ClinVar
Ensembl
dbSNP
CA390026827
rs1378864273
375 A>P No ClinGen
TOPMed
gnomAD
rs766483443
CA7231214
375 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA7231213
rs763042691
377 N>H No ClinGen
ExAC
TOPMed
gnomAD
CA390026703
rs1449934124
381 Y>H No ClinGen
gnomAD
CA390026658
rs1266679700
383 P>L No ClinGen
gnomAD
CA7231211
COSM338999
rs762308704
384 H>Q lung [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
CA390026655
rs1199372701
384 H>Y No ClinGen
gnomAD
CA7231208
rs764565903
385 D>E No ClinGen
ExAC
gnomAD
rs777273263
CA390026632
385 D>H No ClinGen
ExAC
TOPMed
gnomAD
rs777273263
CA7231209
385 D>N No ClinGen
ExAC
TOPMed
gnomAD
CA7231207
rs761256991
386 G>A No ClinGen
ExAC
TOPMed
gnomAD
CA390026613
rs761256991
386 G>E No ClinGen
ExAC
TOPMed
gnomAD
rs773696890
CA7231206
389 V>A No ClinGen
ExAC
rs1276536864
CA390026543
390 S>C No ClinGen
gnomAD
CA7231205
rs770497779
392 I>T No ClinGen
ExAC
gnomAD
rs982432003
CA262651926
392 I>V No ClinGen
TOPMed
CA262651901
rs954194255
393 N>S No ClinGen
gnomAD
rs748918482
CA7231204
394 R>T No ClinGen
ExAC
gnomAD
rs768515967
CA7231182
395 A>D No ClinGen
ExAC
TOPMed
gnomAD
CA390025381
rs1266357450
395 A>T No ClinGen
TOPMed
rs768515967
CA7231183
395 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs746893701
CA7231181
402 A>T No ClinGen
ExAC
gnomAD
rs780076416
CA7231180
402 A>V No ClinGen
ExAC
gnomAD
CA390025215
rs1473222862
404 Y>C No ClinGen
TOPMed
gnomAD
rs372478057
CA7231179
405 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA262651032
rs994269978
405 R>W No ClinGen
TOPMed
gnomAD
CA7231177
rs147447737
406 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs779318405
CA7231178
406 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA7231176
rs200997767
407 E>G No ClinGen
ExAC
gnomAD
CA262650984
rs78857753
408 L>V No ClinGen
Ensembl
CA390025161
rs1228426511
409 A>V No ClinGen
gnomAD
rs764345236
CA7231174
410 L>M No ClinGen
ExAC
CA262650963
rs1045761828
410 L>P No ClinGen
Ensembl
rs868858742
CA262650956
411 R>K No ClinGen
Ensembl
rs950142836
CA262650952
412 N>I No ClinGen
TOPMed
gnomAD
CA7231172
rs753141325
416 R>Q No ClinGen
ExAC
rs756541394
CA7231173
416 R>W Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs749872891
CA7231169
421 E>G No ClinGen
ExAC
gnomAD
CA7231170
rs142982338
421 E>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA390025036
rs749872891
421 E>V No ClinGen
ExAC
gnomAD
CA390025032
rs1307268322
422 Q>E No ClinGen
TOPMed
rs764755827
CA7231168
423 L>V No ClinGen
ExAC
CA7231165
rs374066115
425 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7231166
COSM470130
rs200818459
425 R>W kidney [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA7231164
rs557868487
426 R>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs977348778
CA262650888
426 R>H No ClinGen
gnomAD
rs977348778
CA262650887
426 R>P No ClinGen
gnomAD
rs775276485
CA390024953
429 R>W No ClinGen
ExAC
gnomAD
CA390024890
rs1195596537
431 A>S No ClinGen
TOPMed
gnomAD
CA390024882
rs1285270460
432 A>T Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA262650814
rs867629503
433 M>I No ClinGen
Ensembl
CA7231159
rs143289471
433 M>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs779089363
CA7231160
433 M>V No ClinGen
ExAC
gnomAD
CA262650803
rs953282126
436 T>S No ClinGen
Ensembl
CA7231155
CA390024730
rs753052140
439 S>R No ClinGen
ExAC
gnomAD
rs781543548
CA7231154
442 Q>R No ClinGen
ExAC
gnomAD
CA7231153
COSM1227457
rs372278924
443 R>C large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs1594786052
CA390024628
445 V>M No ClinGen
Ensembl
CA390024606
rs1162777186
446 A>V No ClinGen
gnomAD
rs755750964
CA7231130
448 D>G No ClinGen
ExAC
gnomAD
CA7231131
rs150698819
448 D>H No ClinGen
ExAC
TOPMed
gnomAD
CA7231129
rs752448028
450 F>S No ClinGen
ExAC
CA7231127
rs759470847
451 G>V No ClinGen
ExAC
TOPMed
gnomAD
CA390024299
rs1594785227
453 D>A No ClinGen
Ensembl
CA390024295
rs200407185
453 D>E No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs568264177
CA7231126
453 D>Y No ClinGen
1000Genomes
ExAC
gnomAD
rs576643197
CA262649984
456 A>S No ClinGen
TOPMed
gnomAD
CA390024229
rs1594785207
457 V>G No ClinGen
Ensembl
CA7231122
rs377510670
460 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1594785199
CA390024188
461 K>Q No ClinGen
Ensembl
rs748376558
CA7231121
461 K>R No ClinGen
ExAC
TOPMed
gnomAD
CA7231120
rs373287476
462 K>N No ClinGen
ESP
ExAC
gnomAD
CA390024138
rs1173000675
464 H>Y No ClinGen
gnomAD
CA262649941
rs1034917443
467 I>V No ClinGen
gnomAD
CA390024085
rs1418100152
468 E>K No ClinGen
gnomAD
CA7231116
rs758872603
470 D>N No ClinGen
ExAC
gnomAD
rs746390869
CA7231115
471 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1594785170
CA390024048
471 T>P No ClinGen
Ensembl
CA390024017
rs1566766968
473 A>V No ClinGen
Ensembl
CA262649911
rs778518936
474 Y>C No ClinGen
Ensembl
rs200071450
CA7231112
475 E>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1288189443
CA390023989
476 E>* No ClinGen
gnomAD
CA390023991
rs1288189443
476 E>K No ClinGen
gnomAD
CA390023984
rs1238093921
476 E>V No ClinGen
gnomAD
rs767337494
CA7231111
477 R>Q No ClinGen
ExAC
CA390023959
rs1594785116
478 V>G No ClinGen
Ensembl
rs1594785122
CA390023968
478 V>M No ClinGen
Ensembl
CA390023957
rs1335363319
479 R>G No ClinGen
gnomAD
CA7231110
rs754692333
480 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1377891764
CA390023939
480 A>V No ClinGen
TOPMed
CA7231109
rs751336266
481 L>V No ClinGen
ExAC
CA7231108
rs766122956
486 Q>K No ClinGen
ExAC
gnomAD
rs762902447
CA7231107
489 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA390023836
rs762902447
489 E>Q No ClinGen
ExAC
TOPMed
gnomAD
rs773068965
CA7231106
494 H>Y No ClinGen
ExAC
CA390023707
rs1312059301
497 K>N No ClinGen
gnomAD
rs144624027
RCV001812278
CA7231104
498 R>C Variant assessed as Somatic; 0.0001386 impact. [NCI-TCGA] No ClinGen
ClinVar
ESP
ExAC
NCI-TCGA
TOPMed
dbSNP
gnomAD
CA7231105
rs144624027
498 R>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7231102
rs768807740
499 I>N No ClinGen
ExAC
gnomAD
CA390023675
rs1325711290
499 I>V No ClinGen
TOPMed
rs775790438
CA7231100
COSM957074
500 T>A Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs371029401
CA7231099
500 T>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs550344847
CA7231097
501 A>S No ClinGen
1000Genomes
ExAC
gnomAD
rs769871954
CA7231095
502 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs754641316
CA7231093
503 K>E No ClinGen
ExAC
gnomAD
rs751281187
CA7231092
503 K>N No ClinGen
ExAC
gnomAD
CA262649782
rs981578613
505 N>H No ClinGen
TOPMed
CA7231090
rs377621722
506 I>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs750365417
COSM2248696
CA7231089
508 R>C pancreas [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs142541718
CA7231088
508 R>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1200072657
CA390023324
511 S>N No ClinGen
TOPMed
CA390023285
rs753847520
512 Y>C No ClinGen
ExAC
gnomAD
CA7231086
rs753847520
512 Y>F No ClinGen
ExAC
gnomAD
CA390023283
rs753847520
512 Y>S No ClinGen
ExAC
gnomAD
CA390023177
rs1296320449
515 E>D No ClinGen
gnomAD
CA390023174
rs1381156110
516 L>M No ClinGen
gnomAD
rs1469177099
CA390023169
516 L>Q No ClinGen
TOPMed
COSM957073
rs1181994000
CA390023097
520 R>Q Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
CA7231084
rs760837664
521 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs760837664
COSM315579
CA390023076
521 R>L lung [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs772481672
CA7231082
523 R>S No ClinGen
ExAC
TOPMed
gnomAD
CA7231080
rs55752508
VAR_061084
525 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
UniProt
1000Genomes
ExAC
NCI-TCGA
TOPMed
dbSNP
gnomAD
rs55752508
CA262649705
525 E>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1594784903
CA390022980
527 T>P No ClinGen
Ensembl
rs969131309
CA262649688
528 L>P No ClinGen
Ensembl
CA390022963
rs1377106577
529 A>P No ClinGen
TOPMed
rs780802539
CA7231077
530 L>V No ClinGen
ExAC
gnomAD
rs573438233
CA7231075
535 Q>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs758196795
CA7231073
539 H>Q No ClinGen
ExAC
TOPMed
gnomAD
CA7231072
rs750124646
540 S>N No ClinGen
ExAC
gnomAD
rs140225792
CA7231070
542 D>N No ClinGen
ESP
ExAC
gnomAD
CA390022784
rs1384605202
543 W>R No ClinGen
gnomAD
rs267604023
CA262649636
544 M>I Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
rs1232155679
CA390021864
550 H>L No ClinGen
TOPMed
rs539283144
CA7231048
550 H>Y No ClinGen
1000Genomes
ExAC
gnomAD
CA7231047
rs767667413
551 L>F No ClinGen
ExAC
gnomAD
rs368886050
CA7231046
551 L>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA390021836
rs1280642082
552 L>F No ClinGen
gnomAD
rs376738838
CA7231045
553 S>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1208559492
CA390021835
553 S>P No ClinGen
TOPMed
gnomAD
rs1003421463
CA262648794
554 A>D No ClinGen
Ensembl
CA7231044
rs766824367
554 A>T No ClinGen
ExAC
gnomAD
CA390021821
rs1278642208
555 E>D No ClinGen
gnomAD
CA7231043
rs570709723
555 E>K No ClinGen
1000Genomes
ExAC
gnomAD
CA390021811
rs1441917693
557 G>R No ClinGen
gnomAD
CA390021784
rs1315196865
560 L>F No ClinGen
gnomAD
rs765778666
CA7231041
562 E>D No ClinGen
ExAC
TOPMed
gnomAD
CA7231040
rs762383059
563 V>A No ClinGen
ExAC
TOPMed
gnomAD
CA7231038
rs771632136
565 D>E No ClinGen
ExAC
gnomAD
rs556939239
CA7231037
566 L>Q No ClinGen
1000Genomes
ExAC
gnomAD
rs770700837
CA7231035
569 K>E No ClinGen
ExAC
gnomAD
rs1267571960
CA390021676
570 H>Y No ClinGen
TOPMed
rs777550092
CA7231033
572 L>V No ClinGen
ExAC
gnomAD
CA390021639
rs1485283390
573 M>V No ClinGen
gnomAD
CA390021602
rs1455343299
575 A>D No ClinGen
TOPMed
rs144668591
CA7231032
577 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs781111810
CA7231030
578 A>T No ClinGen
ExAC
gnomAD
rs776683477
CA7231029
580 Q>H No ClinGen
ExAC
gnomAD
rs766762166
CA262648693
582 D>E Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1033968687
CA262648671
583 K>T No ClinGen
TOPMed
gnomAD
CA7231026
rs758702417
584 V>A No ClinGen
ExAC
gnomAD
rs903631784
CA262648643
586 A>T No ClinGen
Ensembl
CA390021407
rs1343438732
590 A>T No ClinGen
gnomAD
rs1416270783
CA390021303
595 T>I No ClinGen
gnomAD
rs759151834
CA7231020
596 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA7231019
rs773865584
597 G>E No ClinGen
ExAC
gnomAD
rs748973588
CA7231017
598 K>Q No ClinGen
ExAC
gnomAD
rs765897258
CA7231000
600 Y>* No ClinGen
ExAC
TOPMed
gnomAD
rs1018237397
CA262647982
600 Y>F No ClinGen
gnomAD
CA390021057
rs1196623209
603 C>Y No ClinGen
TOPMed
rs772895139
CA7230998
605 P>L No ClinGen
ExAC
gnomAD
CA390021012
rs1219878096
605 P>S No ClinGen
TOPMed
gnomAD
rs1301348044
CA390020987
607 V>A No ClinGen
gnomAD
rs1377963089
CA390020944
610 D>V No ClinGen
gnomAD
CA7230996
rs761729520
611 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs148927610
CA7230995
611 R>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA262647952
rs148927610
611 R>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA390020912
rs1353840648
613 S>G No ClinGen
gnomAD
CA262647947
rs1034587612
617 Q>L No ClinGen
TOPMed
rs1415427504
CA390020816
619 F>I No ClinGen
TOPMed
rs1439882520
CA390020779
621 E>K No ClinGen
gnomAD
rs779261630
CA7230989
624 N>D No ClinGen
ExAC
TOPMed
gnomAD
CA390020706
rs1328766457
CA390020707
625 M>I No ClinGen
TOPMed
CA390020719
rs1397944514
625 M>V No ClinGen
TOPMed
rs757548423
CA7230988
626 A>E No ClinGen
ExAC
gnomAD
rs1594783138
CA390020683
627 A>G No ClinGen
Ensembl
CA7230987
rs754164238
628 G>R No ClinGen
ExAC
gnomAD
CA7230985
rs375567377
629 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7230986
rs778031606
629 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA390020637
rs1278230826
631 A>S No ClinGen
TOPMed
gnomAD
CA390020640
rs1278230826
631 A>T No ClinGen
TOPMed
gnomAD
rs1355258527
CA390020621
632 Q>R No ClinGen
TOPMed
rs1372257114
CA390020555
637 K>R No ClinGen
gnomAD
rs371216825
CA262647933
COSM1707463
638 R>Q skin [Cosmic] No ClinGen
cosmic curated
ESP
TOPMed
gnomAD
rs1347159378
CA390020524
640 W>R No ClinGen
gnomAD
rs750065922
CA7230981
642 F>L No ClinGen
ExAC
gnomAD
rs1373593604
CA390020472
643 F>V No ClinGen
gnomAD
rs764890720
CA7230980
644 W>R No ClinGen
ExAC
gnomAD
rs2082718032
RCV001812455
645 E>* No ClinVar
dbSNP
CA390020426
rs1316572886
645 E>D No ClinGen
gnomAD
rs761372149
CA7230978
646 M>T No ClinGen
ExAC
TOPMed
gnomAD
CA262647923
rs993529208
650 E>Q No ClinGen
TOPMed
rs776443913
CA7230977
651 S>G No ClinGen
ExAC
gnomAD
CA390020301
rs1250189126
654 K>E No ClinGen
gnomAD
CA390020294
rs1189125436
654 K>R No ClinGen
gnomAD
CA7230975
rs377670964
656 K>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs775607932
CA7230974
657 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA390020220
rs1210232258
659 I>F No ClinGen
gnomAD
CA390020221
rs1210232258
659 I>V No ClinGen
gnomAD
rs375659876
CA7230973
660 Y>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7230972
rs375659876
660 Y>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA262647902
rs1056571409
662 S>Y No ClinGen
TOPMed
CA390020163
rs1237082371
663 L>P No ClinGen
gnomAD
rs749496373
CA7230969
664 D>G No ClinGen
ExAC
TOPMed
gnomAD
rs141730908
CA7230970
664 D>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs141730908
CA262647855
664 D>Y No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs765506008
CA262647854
665 Y>H No ClinGen
gnomAD
CA262647852
rs995821770
666 G>D No ClinGen
TOPMed
gnomAD
rs900152568
CA262647848
668 D>E No ClinGen
TOPMed
gnomAD
rs778179430
CA7230968
670 T>I No ClinGen
ExAC
gnomAD
rs1286630711
CA390019964
672 V>M No ClinGen
gnomAD
CA390019882
rs1297984865
675 L>F No ClinGen
TOPMed
rs1166073457
CA390019865
676 Q>P No ClinGen
gnomAD
CA390019867
rs1166073457
676 Q>R No ClinGen
gnomAD
COSM957072
CA7230964
rs755493619
677 R>C Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs138774947
CA7230963
677 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs936565423
CA262647780
681 A>D No ClinGen
TOPMed
gnomAD
rs753480687
CA390019583
684 D>E No ClinGen
ExAC
TOPMed
gnomAD
rs756881722
CA7230961
684 D>N No ClinGen
ExAC
TOPMed
gnomAD
rs1485648469
CA390019593
684 D>V No ClinGen
gnomAD
CA7230959
rs763916428
687 R>C No ClinGen
ExAC
gnomAD
CA390019469
rs1390983563
690 D>A No ClinGen
gnomAD
rs868450644
CA262647702
692 H>Q No ClinGen
Ensembl
rs987994868
CA262647709
692 H>Y No ClinGen
Ensembl
CA390019325
CA7230953
rs770967001
695 Q>H No ClinGen
ExAC
TOPMed
gnomAD
CA7230952
rs749496235
696 I>N No ClinGen
ExAC
rs1392664372
CA390019320
696 I>V No ClinGen
TOPMed
gnomAD
rs773376094
CA7230951
697 F>S No ClinGen
ExAC
gnomAD
CA7230950
rs770132994
698 Q>R No ClinGen
ExAC
gnomAD
rs748458507
CA7230949
700 A>V No ClinGen
ExAC
gnomAD
rs946135261
CA262647608
701 H>R No ClinGen
TOPMed
gnomAD
CA7230948
rs781545542
701 H>Y No ClinGen
ExAC
gnomAD
rs112923222
CA390019126
705 A>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1467323426
CA390019138
705 A>T No ClinGen
gnomAD
rs112923222
CA7230946
705 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
COSM1323429
CA7230942
rs201889680
706 R>H ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs201889680
CA390019110
706 R>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs201889680
CA7230943
706 R>P No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1331108244
CA390019086
707 K>N No ClinGen
TOPMed
gnomAD
CA390019056
rs1305006518
708 Q>L No ClinGen
TOPMed
gnomAD
CA390019046
rs776701697
709 F>I No ClinGen
ExAC
TOPMed
gnomAD
CA7230941
rs776701697
709 F>V No ClinGen
ExAC
TOPMed
gnomAD
CA7230940
rs752501133
710 G>R No ClinGen
ExAC
gnomAD
CA7230938
rs751493156
711 H>Q No ClinGen
ExAC
gnomAD
CA390018953
rs1399245468
712 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs763003753
CA7230935
714 I>M No ClinGen
ExAC
TOPMed
gnomAD
CA7230934
rs773358270
715 E>K Variant assessed as Somatic; 9.246e-05 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA390018894
rs1301121444
716 A>D No ClinGen
TOPMed
rs769940259
CA7230933
716 A>P No ClinGen
ExAC
gnomAD
rs199594314
CA7230931
COSM3956154
717 R>H lung [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
CA390018884
rs199594314
717 R>P No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs769054911
CA7230930
718 I>L No ClinGen
ExAC
gnomAD
rs769054911
CA390018878
718 I>V No ClinGen
ExAC
gnomAD
rs780490335
CA7230928
719 K>R No ClinGen
ExAC
gnomAD
CA7230927
rs369224543
720 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA390018830
rs1231488517
721 V>L No ClinGen
TOPMed
gnomAD
rs150328574
CA7230925
722 S>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7230923
rs752447945
723 A>P No ClinGen
ExAC
TOPMed
gnomAD
CA390018807
rs752447945
723 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA390018791
rs1327286039
724 Q>* No ClinGen
gnomAD
rs781104894
CA7230922
725 W>C No ClinGen
ExAC
gnomAD
CA390018750
rs1175567202
726 D>E No ClinGen
gnomAD
CA390018759
rs1376630629
726 D>N No ClinGen
TOPMed
gnomAD
CA390018731
rs1432995300
727 Q>H No ClinGen
gnomAD
rs1594782650
CA390018740
727 Q>P No ClinGen
Ensembl
rs963622491
CA262647487
729 K>R No ClinGen
TOPMed
gnomAD
CA390018690
rs1159293569
730 D>E No ClinGen
gnomAD
CA390018685
rs1471286182
731 L>V No ClinGen
TOPMed
gnomAD
CA262647476
rs868474604
COSM140032
732 A>T Variant assessed as Somatic; impact. skin [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
Ensembl
NCI-TCGA
CA7230921
RCV000415846
rs772434433
733 A>P No ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
CA7230920
rs751504585
733 A>V No ClinGen
ExAC
CA390018595
rs1180860976
737 K>N No ClinGen
TOPMed
gnomAD
CA262647467
rs536482067
738 N>S No ClinGen
1000Genomes
CA7230919
rs766172170
739 L>F No ClinGen
ExAC
gnomAD
CA390018551
rs1485098539
740 Q>H No ClinGen
gnomAD
CA390018556
rs1208086065
740 Q>R No ClinGen
gnomAD
rs1284351415
CA390018548
741 D>H No ClinGen
gnomAD
CA7230915
rs369831704
743 E>K No ClinGen
ESP
ExAC
gnomAD
CA390018467
rs1003635786
746 F>C No ClinGen
Ensembl
rs1278111786
CA390018475
746 F>L No ClinGen
gnomAD
CA262647407
rs1003635786
746 F>S No ClinGen
Ensembl
CA390018439
rs1228210390
748 F>S No ClinGen
gnomAD
CA7230913
rs769001913
749 Q>R No ClinGen
ExAC
TOPMed
gnomAD
rs1402625880
CA390018396
751 D>G No ClinGen
gnomAD
rs775936031
CA7230911
751 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA390018382
rs151164761
752 A>G No ClinGen
ESP
ExAC
gnomAD
rs1045108609
CA262647366
752 A>T No ClinGen
Ensembl
CA7230910
rs151164761
752 A>V No ClinGen
ESP
ExAC
gnomAD
rs1475445478
CA390018378
753 D>N No ClinGen
gnomAD
CA7230908
rs776388224
756 K>E No ClinGen
ExAC
gnomAD
rs1474848178
CA390018284
758 W>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA390018230
rs769469651
760 Q>H No ClinGen
ExAC
TOPMed
gnomAD
CA390018222
rs1594782497
761 D>Y No ClinGen
Ensembl
CA262647338
rs369439568
762 A>S No ClinGen
ESP
TOPMed
gnomAD
rs369439568
CA390018199
762 A>T Variant assessed as Somatic; 9.706e-05 impact. [NCI-TCGA] No ClinGen
ESP
NCI-TCGA
TOPMed
gnomAD
rs1052362411
CA262647330
763 H>L No ClinGen
Ensembl
CA7230904
rs754670202
764 R>P No ClinGen
ExAC
TOPMed
gnomAD
CA7230905
rs754670202
764 R>Q No ClinGen
ExAC
TOPMed
gnomAD
RCV000756713
rs376198076
CA262647329
764 R>W No ClinGen
ClinVar
ESP
TOPMed
dbSNP
gnomAD
rs751243495
CA7230903
766 L>F No ClinGen
ExAC
TOPMed
rs779925712
CA7230902
767 S>T No ClinGen
ExAC
rs757397544
CA7230898
771 V>G No ClinGen
ExAC
gnomAD
rs141749822
CA7230897
772 G>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA390017983
rs1343640117
772 G>R No ClinGen
gnomAD
rs1396334985
CA390017968
773 Q>K No ClinGen
gnomAD
rs1162556241
CA390017948
774 D>V No ClinGen
gnomAD
CA7230895
rs551791156
775 E>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA390017919
rs1187745599
777 A>T No ClinGen
gnomAD
CA390017907
rs1594782394
778 T>A No ClinGen
Ensembl
rs371595430
CA7230894
778 T>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7230893
rs371595430
778 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs150063025
COSM1266748
CA7230890
779 R>Q Variant assessed as Somatic; 0.0 impact. oesophagus [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs200389830
CA7230891
779 R>W No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1275392695
CA390017890
780 A>T No ClinGen
gnomAD
CA7230889
rs747601257
781 L>P No ClinGen
ExAC
gnomAD
CA390017864
rs1216398547
782 G>E No ClinGen
gnomAD
CA7230888
rs776282987
782 G>R No ClinGen
ExAC
gnomAD
CA7230887
rs768150365
783 K>E No ClinGen
ExAC
TOPMed
gnomAD
CA262647277
rs983773153
783 K>R No ClinGen
gnomAD
CA390017807
rs1357166979
786 K>R No ClinGen
TOPMed
rs746692205
CA7230886
788 F>L No ClinGen
ExAC
TOPMed
gnomAD
CA7230885
rs559474125
796 R>C No ClinGen
1000Genomes
ExAC
gnomAD
COSM247592
CA7230884
rs779141940
796 R>H prostate [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs768427782
CA262647257
797 G>E No ClinGen
gnomAD
rs778881764
CA7230882
CA390017662
797 G>R No ClinGen
ExAC
gnomAD
CA262647255
rs902395486
800 E>G No ClinGen
TOPMed
gnomAD
CA7230881
rs757201845
801 H>Y No ClinGen
ExAC
TOPMed
gnomAD
CA7230880
rs566689631
803 E>* No ClinGen
ExAC
gnomAD
CA7230879
rs546740686
803 E>G No ClinGen
ExAC
gnomAD
CA7230877
rs753002999
804 Q>H No ClinGen
ExAC
TOPMed
gnomAD
rs1233823929
CA390016624
810 P>L No ClinGen
gnomAD
CA7230876
rs767767799
810 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs140584449
CA7230873
811 E>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA7230872
rs144888014
812 E>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA7230870
rs148718822
814 R>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA7230871
rs148718822
814 R>W No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA7230868
rs775282320
815 D>N No ClinGen
ExAC
gnomAD
CA7230867
rs771843664
815 D>V No ClinGen
ExAC
gnomAD
rs778685523
CA7230865
820 T>A No ClinGen
ExAC
gnomAD
CA7230864
rs368515091
820 T>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7230862
rs777683294
821 H>R No ClinGen
ExAC
gnomAD
rs1174835310
CA390016555
822 R>Q No ClinGen
gnomAD
rs201338747
CA7230861
822 R>W No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1409112163
CA390016548
823 L>Q No ClinGen
gnomAD
rs752847367
CA7230860
824 Q>H No ClinGen
ExAC
TOPMed
gnomAD
CA7230858
rs150013838
827 R>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs201451634
CA7230859
827 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA7230857
rs751929073
829 L>V No ClinGen
ExAC
gnomAD
CA390016504
rs1486735780
831 Q>E No ClinGen
gnomAD
rs766869436
CA7230856
831 Q>R No ClinGen
ExAC
rs1594782154
CA390016486
833 V>G No ClinGen
Ensembl
CA7230855
rs763528404
833 V>M No ClinGen
ExAC
gnomAD
CA390016482
rs1308836800
834 V>E No ClinGen
TOPMed
gnomAD
CA390016480
rs1308836800
834 V>G No ClinGen
TOPMed
gnomAD
rs139325158
CA7230853
837 A>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs139325158
CA7230852
837 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs759218961
COSM194076
CA7230849
840 R>C Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA7230847
rs770752260
844 L>P No ClinGen
ExAC
gnomAD
CA390016413
rs1161709794
845 Q>R No ClinGen
gnomAD
RCV001290763
rs2082703730
847 A>missing No ClinVar
dbSNP
CA390016396
rs1215505905
847 A>V No ClinGen
Ensembl
CA390016378
rs1471849890
850 L>P No ClinGen
gnomAD
rs370204007
CA262647087
851 Y>C No ClinGen
ESP
TOPMed
rs753867736
CA262647056
COSM1227462
852 T>M Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
CA262647063
rs753867736
852 T>R No ClinGen
TOPMed
gnomAD
rs1254118286
CA390016362
853 V>L No ClinGen
gnomAD
rs12433436
CA390016352
854 F>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs748190264
CA7230842
CA390016350
855 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs755198398
CA7230840
856 E>K No ClinGen
ExAC
TOPMed
CA390016332
rs1328144787
857 T>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1054843687
CA262647031
858 D>N No ClinGen
TOPMed
rs942424375
COSM1177615
CA262647018
859 A>T large_intestine Variant assessed as Somatic; impact. endometrium [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs1235010327
CA390016320
859 A>V No ClinGen
TOPMed
gnomAD
CA7230839
rs780538811
861 E>D No ClinGen
ExAC
TOPMed
gnomAD
CA390016282
rs750883612
CA7230836
864 M>I No ClinGen
ExAC
TOPMed
gnomAD
rs1363623560
CA390016288
864 M>V No ClinGen
TOPMed
gnomAD
CA7230835
rs567473643
865 G>R No ClinGen
1000Genomes
ExAC
gnomAD
rs762232792
CA7230834
869 K>E No ClinGen
ExAC
CA390016237
rs1388294619
870 W>C No ClinGen
TOPMed
gnomAD
rs1171931483
CA390016236
871 L>M No ClinGen
TOPMed
CA7230833
rs752212117
873 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA390016200
rs1298161867
876 M>V No ClinGen
gnomAD
rs770698912
CA7230829
880 L>Q No ClinGen
ExAC
TOPMed
gnomAD
rs762750732
CA7230827
881 E>K No ClinGen
ExAC
rs918255341
CA262646978
882 D>G No ClinGen
TOPMed
CA262646984
rs181243939
882 D>N No ClinGen
1000Genomes
CA7230826
rs772885580
883 L>V No ClinGen
ExAC
gnomAD
rs1594781923
CA390015816
885 V>G No ClinGen
Ensembl
rs146031194
CA7230824
886 V>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA7230821
rs747235133
887 Q>H No ClinGen
ExAC
gnomAD
CA262646963
rs868238812
887 Q>R No ClinGen
Ensembl
CA390015775
rs1354144509
888 H>Q No ClinGen
gnomAD
CA390015783
rs1226990297
888 H>R No ClinGen
TOPMed
CA7230820
rs780485535
888 H>Y No ClinGen
ExAC
gnomAD
rs758566525
CA7230819
889 R>K No ClinGen
ExAC
gnomAD
CA7230800
rs779314843
890 F>L No ClinGen
ExAC
gnomAD
CA7230798
rs749781587
891 D>N No ClinGen
ExAC
TOPMed
gnomAD
rs1566762838
CA390015664
894 D>Y No ClinGen
Ensembl
rs980370978
CA262646224
896 E>K No ClinGen
TOPMed
CA390015601
rs1376811028
897 M>I No ClinGen
gnomAD
CA7230796
rs376848372
897 M>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs373593599
CA7230795
899 T>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA390015540
rs1439464736
902 T>I No ClinGen
gnomAD
rs746868966
CA262646192
903 Q>H No ClinGen
Ensembl
CA390015528
rs1249597109
904 I>T No ClinGen
gnomAD
rs765893110
CA7230794
906 G>D No ClinGen
ExAC
gnomAD
CA7230793
rs758045310
907 V>A No ClinGen
ExAC
gnomAD
CA390015506
rs1306830178
908 N>D No ClinGen
gnomAD
rs750079421
RCV000761883
CA7230792
908 N>S No ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
CA390015493
rs1566762795
910 A>T No ClinGen
Ensembl
CA7230789
rs776584817
911 A>T No ClinGen
ExAC
gnomAD
CA7230788
rs764059771
912 N>K No ClinGen
ExAC
gnomAD
CA390015480
rs1594780839
912 N>S No ClinGen
Ensembl
CA7230787
rs142637501
913 S>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs775663450
CA7230786
913 S>R No ClinGen
ExAC
gnomAD
CA390015464
rs1282438063
914 L>F No ClinGen
TOPMed
rs1409755521
CA390015468
914 L>W No ClinGen
gnomAD
CA390015448
rs1376089312
917 S>G No ClinGen
gnomAD
CA262646103
rs951323347
919 H>R No ClinGen
TOPMed
rs772095325
CA7230785
919 H>Y No ClinGen
ExAC
TOPMed
CA390015428
rs1401823259
920 P>A No ClinGen
gnomAD
rs944154148
CA262646099
920 P>L No ClinGen
Ensembl
rs1401823259
CA390015429
920 P>T No ClinGen
gnomAD
rs564951922
CA7230783
921 R>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs147984790
CA7230782
921 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
gnomAD
rs564951922
CA7230784
921 R>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs199859148
CA7230781
922 S>G No ClinGen
ExAC
gnomAD
rs1181287253
CA390015418
922 S>T No ClinGen
gnomAD
CA390015396
rs1475506896
925 V>E No ClinGen
gnomAD
CA390015394
rs1475506896
925 V>G No ClinGen
gnomAD
CA390015376
rs1207462803
928 Y>H No ClinGen
gnomAD
rs1404767677
CA390015363
929 Q>H No ClinGen
gnomAD
CA262646061
COSM1290311
rs976167557
930 D>G haematopoietic_and_lymphoid_tissue [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
rs770234768
CA7230779
930 D>N No ClinGen
ExAC
gnomAD
rs1189194929
CA390015355
931 H>Y No ClinGen
TOPMed
CA390015331
rs1331593364
934 T>N No ClinGen
TOPMed
gnomAD
rs1331593364
CA390015330
934 T>S No ClinGen
TOPMed
gnomAD
rs199733111
CA7230757
936 W>C No ClinGen
ExAC
TOPMed
gnomAD
rs776193793
CA262704478
938 A>S No ClinGen
Ensembl
CA7230756
rs745310809
938 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs867901225
CA262704453
941 T>N No ClinGen
gnomAD
rs1404681447
CA390047810
943 V>L No ClinGen
gnomAD
rs1404681447
CA390047811
943 V>M No ClinGen
gnomAD
rs778518876
COSM957069
CA7230755
944 S>L Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA390047797
rs1293991279
945 E>A No ClinGen
TOPMed
CA7230752
rs374252512
946 R>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs753596088
CA7230753
946 R>W No ClinGen
ExAC
gnomAD
CA7230750
rs752667759
947 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA7230751
rs756040841
947 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA262704420
rs865914584
948 E>G No ClinGen
gnomAD
CA390047786
rs1248808289
948 E>K No ClinGen
gnomAD
CA390047775
rs1273842355
949 A>G No ClinGen
gnomAD
rs767289762
CA7230749
951 D>E No ClinGen
ExAC
TOPMed
gnomAD
CA262704415
rs200830894
951 D>G No ClinGen
gnomAD
CA262704403
RCV001812415
rs983201841
953 A>G No ClinGen
ClinVar
TOPMed
dbSNP
CA262704376
rs935007562
954 L>F No ClinGen
Ensembl
CA7230747
rs370398211
COSM1227463
955 R>Q large_intestine [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA390047733
rs1566759394
957 H>Y No ClinGen
Ensembl
CA262704374
rs922976456
958 N>D No ClinGen
TOPMed
gnomAD
rs1354994260
CA390047719
959 Y>N No ClinGen
gnomAD
rs200877686
CA7230746
960 C>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA390047710
rs1309335219
960 C>Y No ClinGen
gnomAD
rs149316006
RCV001508726
CA7230744
RCV000733349
961 V>I No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA7230745
rs149316006
961 V>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA7230743
rs367782249
963 C>Y No ClinGen
ESP
ExAC
gnomAD
rs777063192
CA7230741
964 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA7230740
rs769006810
965 E>D No ClinGen
ExAC
gnomAD
rs1175750348
CA390047654
968 K>R No ClinGen
TOPMed
rs138556050
CA7230739
COSM241752
971 T>M Variant assessed as Somatic; 0.0 impact. large_intestine prostate [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1408138151
CA390047615
973 K>N No ClinGen
gnomAD
CA390047589
rs986293048
977 V>A No ClinGen
TOPMed
gnomAD
CA262704312
rs986293048
977 V>G No ClinGen
TOPMed
gnomAD
CA7230734
rs72724498
978 E>D No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs777627078
CA7230735
978 E>G No ClinGen
ExAC
gnomAD
CA7230736
rs748944269
978 E>K No ClinGen
ExAC
gnomAD
rs1314130251
CA390047583
979 S>T No ClinGen
gnomAD
CA262704272
rs543732559
984 G>E No ClinGen
1000Genomes
gnomAD
CA7230729
rs562590442
985 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
COSM1562577
CA7230730
rs371628390
985 R>W large_intestine [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA7230728
rs758526994
986 D>Y No ClinGen
ExAC
gnomAD
CA390047532
rs1566759241
987 L>R No ClinGen
Ensembl
CA7230727
rs541056104
989 G>C No ClinGen
1000Genomes
ExAC
gnomAD
CA7230726
rs550669563
989 G>V No ClinGen
ExAC
TOPMed
gnomAD
CA390047512
rs1357023468
991 I>V No ClinGen
gnomAD
rs776814615
CA7230724
COSM1370624
992 A>T Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs761057312
CA7230722
994 Q>R No ClinGen
ExAC
gnomAD
CA7230721
rs776134235
999 G>E No ClinGen
ExAC
TOPMed
gnomAD
CA390047460
rs1251222122
999 G>R No ClinGen
gnomAD
CA7230716
rs146911028
1002 R>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA7230717
rs146911028
1002 R>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA7230715
rs780815297
1002 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs146911028
CA7230718
1002 R>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1226542860
CA390047435
1003 D>V No ClinGen
gnomAD
RCV001812280
CA7230712
rs779906104
1004 V>M No ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs151112486
CA390047421
1006 A>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs151112486
CA7230710
1006 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs370871216
CA7230709
1009 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs377620114
CA7230706
1010 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7230705
RCV001810654
rs556377923
1010 R>H No ClinGen
ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
rs377620114
CA7230707
1010 R>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7230704
rs776012646
1012 D>N No ClinGen
ExAC
gnomAD
rs760141425
CA7230702
1014 L>P No ClinGen
ExAC
gnomAD
COSM303294
rs573498417
CA7230701
1016 R>C Variant assessed as Somatic; 0.0 impact. central_nervous_system stomach [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
COSM2248634
rs769384891
CA7230700
1016 R>H pancreas [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs761363915
CA7230699
1017 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA390047358
rs761363915
1017 E>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1341052202
CA390047337
1020 Q>K No ClinGen
Ensembl
CA390047334
rs1206538272
1020 Q>P No ClinGen
gnomAD
CA7230697
rs768203873
1022 M>I No ClinGen
ExAC
gnomAD
CA7230698
rs776399099
1022 M>T No ClinGen
ExAC
gnomAD
rs142823994
CA390047311
1023 D>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7230694
rs190108600
1024 S>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA7230695
rs190108600
1024 S>W No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA390047303
rs1396905761
1025 H>Y No ClinGen
gnomAD
CA7230692
rs778936613
1026 P>A No ClinGen
ExAC
gnomAD
CA390047281
rs1366865059
1028 Q>R No ClinGen
gnomAD
rs1232166362
CA390047273
1029 K>T No ClinGen
TOPMed
rs757425728
CA7230691
1030 E>K No ClinGen
ExAC
gnomAD
rs1047765
CA262704046
1031 D>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1164403722
CA390047246
1033 G>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA390047248
rs1164403722
1033 G>S No ClinGen
TOPMed
gnomAD
CA390047239
rs1213126107
1034 Q>R No ClinGen
TOPMed
rs148507591
CA7230687
1035 R>Q No ClinGen
ESP
ExAC
gnomAD
rs1164127919
CA390047227
1036 Q>R No ClinGen
gnomAD
CA7230685
rs760088579
1038 H>Y No ClinGen
ExAC
TOPMed
gnomAD
rs986795772
CA262704000
1039 L>V No ClinGen
TOPMed
gnomAD
CA390047202
rs1211615857
1040 E>K No ClinGen
gnomAD
rs1485350366
CA390047191
1041 E>A No ClinGen
TOPMed
rs764635536
CA7230683
1042 L>P No ClinGen
ExAC
gnomAD
RCV001002152
rs1594775390
RCV003141926
CA390047180
1043 W>* No ClinGen
ClinVar
Ensembl
dbSNP
CA7230682
rs146819160
1043 W>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1228426231
CA390047164
1045 G>S No ClinGen
gnomAD
rs1424196999
CA390047161
1045 G>V No ClinGen
TOPMed
CA390047145
rs1343868033
1048 Q>* No ClinGen
gnomAD
rs199994404
CA262703975
1048 Q>H No ClinGen
1000Genomes
CA390047129
rs1227199684
1051 Q>K No ClinGen
gnomAD
CA7230679
rs143644014
1052 G>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7230680
rs768317667
1052 G>S No ClinGen
ExAC
TOPMed
gnomAD
rs1389071244
CA390047101
1055 D>N No ClinGen
gnomAD
CA390047088
rs1594775353
1056 L>F No ClinGen
Ensembl
COSM1707461
CA390047081
rs1389145740
1058 G>R skin [Cosmic] No ClinGen
cosmic curated
gnomAD
CA262703953
rs763939872
1058 G>V No ClinGen
Ensembl
rs962149048
CA262703950
1059 E>A No ClinGen
Ensembl
rs775248207
CA7230678
1059 E>D No ClinGen
ExAC
TOPMed
gnomAD
rs771898660
CA7230677
1060 V>I No ClinGen
ExAC
gnomAD
CA390047046
rs1372481726
1063 L>P No ClinGen
gnomAD
rs375116881
CA390047037
1064 Q>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA262703918
rs905862271
1066 F>S No ClinGen
TOPMed
CA7230674
rs770789297
1068 Q>K No ClinGen
ExAC
gnomAD
CA7230673
rs371774042
1068 Q>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs777736294
CA7230672
1072 D>V No ClinGen
ExAC
gnomAD
CA262703885
rs1006492983
1073 F>I No ClinGen
TOPMed
CA390046979
rs1269972919
1073 F>L No ClinGen
TOPMed
rs1205252633
CA390046976
1074 Q>E No ClinGen
gnomAD
CA390046977
rs1205252633
1074 Q>K No ClinGen
gnomAD
CA390046965
rs1346219302
1075 A>G No ClinGen
TOPMed
CA7230670
rs45507992
1076 W>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7230671
rs756334913
1076 W>G No ClinGen
ExAC
TOPMed
gnomAD
rs1347462204
CA390046954
1077 L>F No ClinGen
TOPMed
CA7230669
rs200926839
1078 S>F No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA7230668
rs755447675
1080 T>A No ClinGen
ExAC
TOPMed
gnomAD
rs1287097479
CA390046930
1081 Q>R No ClinGen
Ensembl
rs374585997
CA7230667
1083 A>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA390046908
rs1301265044
1084 V>A No ClinGen
TOPMed
gnomAD
rs766839603
CA7230666
1085 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA390046885
rs1429381408
1088 D>Y No ClinGen
gnomAD
CA7230664
rs753342542
1089 M>V No ClinGen
ExAC
TOPMed
gnomAD
CA7230662
rs760294011
1091 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA390046857
rs1318178118
1092 S>P No ClinGen
TOPMed
rs1376847984
CA390046850
1093 L>F No ClinGen
gnomAD
CA262703771
rs201653621
1095 E>K No ClinGen
1000Genomes
TOPMed
gnomAD
CA262703763
rs1023515670
1096 A>T No ClinGen
TOPMed
CA390046815
rs1180768765
1098 Q>H No ClinGen
gnomAD
CA7230661
rs138439282
1098 Q>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA390046813
rs1370491661
1099 L>F No ClinGen
TOPMed
COSM1370622
rs1241237774
CA390046790
1102 Q>R large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
CA390046780
rs1198368141
1103 H>Q No ClinGen
TOPMed
gnomAD
rs759269770
CA7230659
1103 H>R No ClinGen
ExAC
TOPMed
gnomAD
CA390046775
rs374648585
1104 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs893624840
CA262703702
1106 I>M No ClinGen
TOPMed
gnomAD
rs770863430
CA7230657
1106 I>V No ClinGen
ExAC
CA390046748
rs1229590428
1108 D>E No ClinGen
gnomAD
rs139214218
CA7230656
1111 D>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA390046723
rs748367584
1112 G>A No ClinGen
ExAC
TOPMed
gnomAD
CA7230653
rs748367584
1112 G>E No ClinGen
ExAC
TOPMed
gnomAD
CA7230654
rs150796721
1112 G>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA7230652
rs781503502
1113 H>R No ClinGen
ExAC
gnomAD
CA390046714
rs1594775034
1114 Q>E No ClinGen
Ensembl
rs1394493410
CA390046686
1117 Y>C No ClinGen
gnomAD
rs747335265
CA7230650
1119 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA7230649
rs553593159
1119 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA390046674
rs747335265
1119 R>S No ClinGen
ExAC
TOPMed
gnomAD
rs1395588185
CA390046670
1120 V>I No ClinGen
gnomAD
CA7230648
rs775202372
1123 S>P No ClinGen
ExAC
TOPMed
gnomAD
CA390046622
rs1157779083
1126 K>N No ClinGen
gnomAD
rs767091844
CA7230643
1128 I>M No ClinGen
ExAC
TOPMed
gnomAD
CA7230644
rs752216665
1128 I>T No ClinGen
ExAC
gnomAD
CA7230645
rs755679221
1128 I>V No ClinGen
ExAC
gnomAD
CA7230642
rs769684663
1129 Q>R No ClinGen
ExAC
TOPMed
gnomAD
RCV001812371
rs2082573854
1131 Q>* No ClinVar
dbSNP
rs1394283404
CA390046593
1131 Q>R No ClinGen
TOPMed
CA7230640
rs186859277
1132 T>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs773081060
CA7230638
1133 D>G No ClinGen
ExAC
gnomAD
CA7230636
rs748167525
1135 E>D No ClinGen
ExAC
TOPMed
gnomAD
rs375618460
CA7230637
1135 E>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
RCV001002421
CA7230635
rs776879148
1137 L>M No ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs1320997133
CA390046548
1139 L>M No ClinGen
gnomAD
rs141173028
CA390046526
1142 R>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA390046528
rs1436929613
1142 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA7230632
rs199840127
1144 E>G No ClinGen
ExAC
gnomAD
CA7230633
rs747247179
1144 E>Q No ClinGen
ExAC
gnomAD
rs571964071
CA7230631
1145 G>S No ClinGen
1000Genomes
ExAC
gnomAD
rs199709844
CA262703507
1146 L>M No ClinGen
1000Genomes
TOPMed
gnomAD
rs1390340680
CA390046503
1147 D>Y No ClinGen
gnomAD
rs77806
CA262703478
1151 N>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA7230626
rs767038559
1151 N>K No ClinGen
ExAC
gnomAD
rs752165358
CA7230627
1151 N>S No ClinGen
ExAC
gnomAD
CA262703448
rs980602524
1152 A>G No ClinGen
TOPMed
gnomAD
rs754591398
CA7230625
1152 A>T No ClinGen
ExAC
CA7230624
COSM698953
rs751235570
1154 G>D lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA390046463
rs1435734860
1154 G>S No ClinGen
TOPMed
rs751235570
CA390046459
1154 G>V No ClinGen
ExAC
TOPMed
gnomAD
CA262703431
rs1016291916
1155 R>G No ClinGen
TOPMed
rs79725829
CA7230623
1157 W>G No ClinGen
ExAC
CA7230622
rs762597840
1158 E>Q No ClinGen
ExAC
gnomAD
CA262703419
rs771810616
1159 S>G No ClinGen
Ensembl
CA390046425
rs1359006770
1159 S>T No ClinGen
gnomAD
rs765222922
CA7230620
1160 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs76283214
CA7230619
1160 R>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7230617
rs768901063
1161 S>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1300290638
CA390046418
1161 S>R No ClinGen
TOPMed
CA390046412
rs1437142594
1161 S>R No ClinGen
gnomAD
CA7230615
rs377560569
1163 T>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs377560569
CA390046399
1163 T>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1490726834
CA390046392
1165 A>T No ClinGen
gnomAD
CA7230612
rs779282753
1166 Q>R No ClinGen
ExAC
gnomAD
rs145875201
CA262703353
1168 L>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
NCI-TCGA
TOPMed
gnomAD
rs1388745080
CA390046369
1168 L>P No ClinGen
gnomAD
CA7230611
rs749833541
1171 Q>P No ClinGen
ExAC
gnomAD
CA7230610
rs749833541
1171 Q>R No ClinGen
ExAC
gnomAD
rs1231541608
CA390046342
1172 E>G No ClinGen
TOPMed
rs754503810
CA7230608
1175 K>N No ClinGen
ExAC
TOPMed
gnomAD
rs1291286548
CA390046318
1175 K>R No ClinGen
TOPMed
rs1490223841
CA390046303
1177 A>G No ClinGen
gnomAD
rs1275420408
CA390046297
1178 K>R No ClinGen
gnomAD
CA7230607
rs143493156
1180 A>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs3210340
CA262703326
1180 A>V No ClinGen
Ensembl
rs1007738752
CA262703320
1183 I>V No ClinGen
TOPMed
CA390046251
rs1227189633
1185 S>I No ClinGen
TOPMed
gnomAD
CA390046253
rs1227189633
1185 S>N No ClinGen
TOPMed
gnomAD
CA390046256
rs1194934142
1185 S>R No ClinGen
TOPMed
rs1469756813
CA390046220
1188 E>K No ClinGen
gnomAD
rs201441326
CA7230583
1190 T>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs756109744
CA7230582
1190 T>S No ClinGen
ExAC
rs767687371
CA7230580
1191 L>R No ClinGen
ExAC
TOPMed
gnomAD
rs752671489
CA262703083
1191 L>V No ClinGen
ExAC
TOPMed
gnomAD
rs759671854
CA7230579
1192 A>P No ClinGen
ExAC
gnomAD
rs766601064
CA7230577
1194 L>W No ClinGen
ExAC
gnomAD
rs367840098
CA7230575
1195 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1566757728
CA390046167
1196 P>R No ClinGen
Ensembl
rs1229710369
CA390046153
1198 D>E No ClinGen
gnomAD
rs774828453
CA7230572
1198 D>N No ClinGen
ExAC
TOPMed
gnomAD
CA390046122
rs1389836671
1203 A>E No ClinGen
TOPMed
gnomAD
rs1452286295
CA390046126
1203 A>T No ClinGen
gnomAD
CA390046109
rs1323207561
1205 A>D No ClinGen
gnomAD
rs1452230204
CA390046107
1206 G>R No ClinGen
gnomAD
rs1363336216
CA390046100
1207 I>V No ClinGen
gnomAD
CA7230566
rs139262198
1208 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
COSM433254
rs374240422
CA7230567
1208 R>W Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA7230563
rs752722915
1209 K>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs754992620
CA7230561
1212 D>G No ClinGen
ExAC
gnomAD
CA390046061
rs1265540580
1213 F>I No ClinGen
gnomAD
rs766548051
CA7230559
1215 G>A No ClinGen
ExAC
gnomAD
CA390046041
rs1348896251
1216 S>A No ClinGen
TOPMed
CA390046040
rs1348896251
1216 S>P No ClinGen
TOPMed
CA7230558
rs146846892
1217 M>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs368552247
CA7230557
1219 N>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
gnomAD
CA7230556
rs368552247
1219 N>T No ClinGen
ESP
ExAC
gnomAD
rs1300227594
CA390046011
1220 N>H No ClinGen
gnomAD
CA7230555
rs201849832
1221 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA390046004
rs1381051370
1221 R>W No ClinGen
gnomAD
rs777255682
CA390046000
1222 D>N No ClinGen
ExAC
TOPMed
gnomAD
COSM1732556
rs777255682
CA7230554
1222 D>Y NS [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA262702957
rs1006582019
1228 V>L No ClinGen
gnomAD
rs1450292241
CA390045951
1229 D>G No ClinGen
gnomAD
CA7230551
rs774029248
1230 S>P No ClinGen
ExAC
TOPMed
gnomAD
rs1267889389
CA390045915
1235 V>I No ClinGen
gnomAD
CA390045903
rs1192844436
1237 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
COSM1707459
rs1184589084
CA390045890
1238 G>E skin [Cosmic] No ClinGen
cosmic curated
TOPMed
CA390045881
rs1445784766
1240 L>I No ClinGen
Ensembl
CA390045875
rs1205472431
1241 Y>H No ClinGen
gnomAD
CA7230548
rs777400404
1243 D>E No ClinGen
ExAC
gnomAD
rs976130875
CA262702932
1247 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA390045816
rs1373154036
1249 V>M Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs1343483831
CA390045807
1250 Q>R No ClinGen
gnomAD
COSM1227456
rs1302660993
CA390045794
1252 I>T large_intestine [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
CA7230545
rs781116290
1253 E>G No ClinGen
ExAC
gnomAD
rs868131072
CA262702917
1253 E>K No ClinGen
Ensembl
CA390045785
rs1347493519
1254 D>N No ClinGen
TOPMed
rs965294354
CA262702800
1259 N>K No ClinGen
Ensembl
CA390045724
rs1450102801
1260 N>S No ClinGen
gnomAD
CA7230508
rs776378723
1260 N>Y No ClinGen
ExAC
TOPMed
gnomAD
CA7230505
rs775350990
1261 E>G No ClinGen
ExAC
gnomAD
CA7230506
rs746933929
1261 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA390045704
rs1405209052
1263 A>G No ClinGen
gnomAD
rs904850369
CA262702786
1263 A>S No ClinGen
TOPMed
CA262702783
rs912491095
1266 A>T No ClinGen
Ensembl
CA7230501
rs757483034
1267 S>C No ClinGen
ExAC
gnomAD
CA262702754
rs765221153
1268 V>I No ClinGen
Ensembl
rs765221153
CA262702758
1268 V>L No ClinGen
Ensembl
rs201313127
CA7230498
1269 L>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA7230500
rs778280369
1269 L>V No ClinGen
ExAC
gnomAD
rs1267445474
CA390045652
1272 D>A No ClinGen
TOPMed
rs370662950
CA7230495
1274 L>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs370662950
CA7230496
1274 L>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1282268795
CA390045629
1276 L>V No ClinGen
gnomAD
CA390045619
rs1204568319
1277 Q>H No ClinGen
gnomAD
rs764693974
CA7230493
1278 N>S No ClinGen
ExAC
TOPMed
gnomAD
CA7230492
rs376325010
1279 F>Y No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs369252262
CA7230489
1283 C>F No ClinGen
ExAC
gnomAD
rs771997733
CA390045568
1284 Q>H No ClinGen
ExAC
TOPMed
gnomAD
CA390045574
rs1343304057
1284 Q>K No ClinGen
gnomAD
rs775296073
CA7230488
1284 Q>R No ClinGen
ExAC
TOPMed
gnomAD
CA7230486
rs745845637
1285 E>A No ClinGen
ExAC
gnomAD
rs1271170656
CA390045546
1286 L>F No ClinGen
gnomAD
CA390045542
rs1197292878
1287 T>A No ClinGen
gnomAD
CA390045537
rs1490250188
1287 T>I No ClinGen
gnomAD
CA390045541
rs1197292878
1287 T>S No ClinGen
gnomAD
CA7230469
rs774216236
1291 N>K No ClinGen
ExAC
TOPMed
gnomAD
rs770916821
CA7230467
1292 D>N No ClinGen
ExAC
gnomAD
CA7230466
rs763084936
1293 K>E No ClinGen
ExAC
gnomAD
rs145433957
CA390045494
1293 K>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs770115757
CA7230464
1294 L>M No ClinGen
ExAC
gnomAD
CA7230461
rs368833188
1297 S>F No ClinGen
ESP
ExAC
TOPMed
rs1350562659
CA614440949
1297 S>I No ClinGen
gnomAD
rs368833188
CA390045475
1297 S>Y No ClinGen
ESP
ExAC
TOPMed
rs747412251
CA7230460
1300 V>A No ClinGen
ExAC
gnomAD
CA262702041
rs948225516
1301 S>C No ClinGen
TOPMed
CA7230459
rs780357227
1302 Y>C No ClinGen
ExAC
TOPMed
gnomAD
CA262702032
rs753297883
1303 D>H No ClinGen
ExAC
gnomAD
rs753297883
CA7230457
1303 D>Y No ClinGen
ExAC
gnomAD
CA7230454
rs752416927
1306 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA262702004
rs1038287944
CA390045411
1307 N>K No ClinGen
TOPMed
gnomAD
rs1174904742
CA390045406
1308 L>P No ClinGen
gnomAD
rs767333869
CA7230453
1309 H>Q No ClinGen
ExAC
TOPMed
gnomAD
CA7230452
rs759195991
1310 N>K No ClinGen
ExAC
gnomAD
CA390045394
rs1594772211
1310 N>S No ClinGen
Ensembl
rs140446828
CA7230451
1312 W>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1479756011
CA390045368
1314 K>E No ClinGen
gnomAD
rs766175855
CA7230449
1315 H>Q No ClinGen
ExAC
gnomAD
CA390045359
rs1594772189
1315 H>Y No ClinGen
Ensembl
rs763029819
CA7230448
1317 A>P No ClinGen
ExAC
gnomAD
CA7230447
COSM1370618
rs768710888
1317 A>V Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs1594772168
CA390045328
1320 A>T No ClinGen
Ensembl
rs762112620
CA7230445
1320 A>V No ClinGen
ExAC
gnomAD
CA390045312
rs1308471547
1322 L>R No ClinGen
gnomAD
CA262701953
rs541889464
1322 L>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1221739657
CA390045310
1323 A>P No ClinGen
gnomAD
CA390045296
rs146778255
1325 H>P No ClinGen
ESP
TOPMed
gnomAD
rs146778255
CA262701952
1325 H>R No ClinGen
ESP
TOPMed
gnomAD
CA390045286
rs1279342786
1326 E>D No ClinGen
gnomAD
rs1453923191
CA390045284
1327 G>R No ClinGen
gnomAD
rs1408744606
CA390045279
1327 G>V No ClinGen
gnomAD
rs1469708148
CA390045270
1328 W>C No ClinGen
gnomAD
rs1594772110
CA390045276
1328 W>G No ClinGen
Ensembl
rs1299379767
CA390045260
1330 E>G No ClinGen
TOPMed
rs1339398663
CA390045255
1331 N>H No ClinGen
TOPMed
CA7230440
rs746414660
1333 D>H No ClinGen
ExAC
TOPMed
gnomAD
rs746414660
CA7230439
1333 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
RCV000756712
rs113139501
CA7230438
1334 A>V No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs758666794
CA262700925
1335 E>K No ClinGen
Ensembl
rs865845274
CA262700922
1336 G>R No ClinGen
Ensembl
rs1224287786
CA390045204
1337 K>R No ClinGen
gnomAD
CA390045194
rs1356759800
1338 Q>L No ClinGen
gnomAD
CA7230417
rs746365542
1339 L>R No ClinGen
ExAC
gnomAD
rs1290056339
CA390045190
1339 L>V No ClinGen
gnomAD
rs908533278
CA262700906
1347 T>I No ClinGen
TOPMed
gnomAD
CA7230413
rs369444753
1349 L>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1163171250
CA390045105
1352 Q>K No ClinGen
gnomAD
rs1594770057
RCV001000999
1353 K>missing No ClinVar
dbSNP
rs146570433
CA262700889
1358 H>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs905908428
CA262700891
1358 H>R No ClinGen
Ensembl
CA390045046
rs1405421214
1361 W>S No ClinGen
TOPMed
CA7230408
rs765225112
1362 D>E No ClinGen
ExAC
TOPMed
gnomAD
COSM273299
CA7230406
rs776511812
1363 E>K Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1196004546
CA390045020
1365 Q>* No ClinGen
gnomAD
rs753842456
CA262700865
1366 A>P No ClinGen
ExAC
TOPMed
gnomAD
rs753842456
CA7230405
1366 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA390045009
rs1253412586
1367 T>A No ClinGen
gnomAD
CA7230402
rs775843992
1371 K>R No ClinGen
ExAC
gnomAD
rs142640389
CA7230400
1373 Q>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA390044961
rs1221558226
1374 H>Y Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs200559187
CA7230398
1376 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1052947217
CA262700839
1377 A>T No ClinGen
Ensembl
CA390044923
rs775995989
1380 S>I No ClinGen
ExAC
gnomAD
CA7230396
rs775995989
1380 S>N No ClinGen
ExAC
gnomAD
CA390044910
rs371649655
1382 D>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7230393
rs569713799
1382 D>G No ClinGen
1000Genomes
ExAC
gnomAD
rs746513424
CA7230394
1382 D>N No ClinGen
ExAC
TOPMed
gnomAD
rs367610564
CA7230391
1383 L>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1194374612
CA390044906
1383 L>P No ClinGen
gnomAD
rs778901641
CA7230390
1384 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA7230389
rs757113392
1384 R>H No ClinGen
ExAC
gnomAD
rs894413251
CA262700814
1387 T>S No ClinGen
TOPMed
rs1405959110
CA390044876
1388 H>R No ClinGen
gnomAD
CA262700796
rs1055690350
1390 D>H No ClinGen
TOPMed
rs886050619
CA390044847
1392 N>K No ClinGen
TOPMed
CA7230387
rs764068701
1392 N>S No ClinGen
ExAC
gnomAD
rs144621253
CA7230386
CA390044831
1394 W>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1337694456
CA390044820
1396 S>N No ClinGen
gnomAD
rs759799491
CA7230384
1397 A>S No ClinGen
ExAC
TOPMed
gnomAD
rs759799491
CA7230383
1397 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs17180350
CA7230381
1403 R>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs545984220
CA7230382
1403 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA262700760
rs950346432
1404 S>L No ClinGen
Ensembl
CA7230378
rs770206796
1406 D>N No ClinGen
ExAC
TOPMed
gnomAD
rs147131185
CA7230377
1407 P>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA390044749
rs1159711774
1407 P>S No ClinGen
TOPMed
gnomAD
rs1159711774
CA390044751
1407 P>T No ClinGen
TOPMed
gnomAD
rs17245552
CA7230375
1408 G>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA390044745
rs1594769822
1408 G>D No ClinGen
Ensembl
CA7230373
rs778846532
1410 D>E No ClinGen
ExAC
TOPMed
gnomAD
rs1460335603
CA390044701
1415 N>H No ClinGen
TOPMed
gnomAD
CA262700712
rs921527857
1415 N>S No ClinGen
TOPMed
gnomAD
rs1460335603
CA390044702
1415 N>Y No ClinGen
TOPMed
gnomAD
CA7230370
rs777704033
1416 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs975597244
CA262700706
1416 R>W No ClinGen
TOPMed
gnomAD
rs756040224
CA7230369
1417 M>K No ClinGen
ExAC
gnomAD
CA262700694
rs1021660417
1418 L>F No ClinGen
Ensembl
rs1271230465
CA390044673
1419 A>V No ClinGen
gnomAD
rs150323295
CA7230351
1423 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs781231618
RCV001812506
CA7230350
1425 E>K No ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs780282298
CA7230347
1426 D>E No ClinGen
ExAC
TOPMed
gnomAD
rs754988940
CA7230349
1426 D>V No ClinGen
ExAC
gnomAD
rs750776585
CA7230345
1428 V>G No ClinGen
ExAC
gnomAD
CA390044607
rs567454803
1428 V>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA7230346
rs567454803
1428 V>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA390044594
rs1240452276
1430 V>M No ClinGen
gnomAD
CA7230343
rs757836263
COSM957062
1431 R>* Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA262699348
COSM698955
rs943876155
1431 R>Q lung Variant assessed as Somatic; 0.0 impact. skin [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
rs759052809
CA7230340
1433 E>D No ClinGen
ExAC
gnomAD
rs764712285
CA7230341
1433 E>G No ClinGen
ExAC
gnomAD
CA7230339
rs773768310
1434 E>Q No ClinGen
ExAC
gnomAD
rs1277028532
CA390044565
1435 L>V No ClinGen
TOPMed
gnomAD
CA390044557
rs1300958852
1436 G>E No ClinGen
gnomAD
rs1346828165
CA390044561
1436 G>R No ClinGen
gnomAD
CA262699277
rs953675033
1440 A>S No ClinGen
TOPMed
CA7230336
rs773051278
1441 Q>E No ClinGen
ExAC
gnomAD
rs769530469
CA7230335
1442 V>M No ClinGen
ExAC
gnomAD
rs747947771
CA7230334
1445 M>V No ClinGen
ExAC
TOPMed
gnomAD
CA390044457
rs1431504811
1451 D>E No ClinGen
gnomAD
rs997243304
CA262699245
1452 A>T No ClinGen
TOPMed
rs768609633
CA7230331
1452 A>V No ClinGen
ExAC
gnomAD
rs1487199875
CA390044437
1455 S>G No ClinGen
TOPMed
rs371440362
CA262699239
1457 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ESP
NCI-TCGA
TOPMed
gnomAD
rs371440362
CA262699224
1457 E>Q No ClinGen
ESP
TOPMed
gnomAD
CA390044410
rs1233259263
1458 K>N No ClinGen
gnomAD
COSM1235254
rs148127231
CA7230328
1459 R>Q Variant assessed as Somatic; 0.0 impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
NCI-TCGA
gnomAD
rs780155773
CA7230329
1459 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs757639847
CA7230325
1462 D>G No ClinGen
ExAC
TOPMed
gnomAD
rs779323039
CA390044392
1462 D>N No ClinGen
ExAC
gnomAD
rs779323039
CA7230326
1462 D>Y No ClinGen
ExAC
gnomAD
rs754260970
CA7230324
1465 E>D No ClinGen
ExAC
gnomAD
rs1160994776
CA390044371
1465 E>G No ClinGen
TOPMed
rs1280762398
CA390044375
1465 E>K No ClinGen
gnomAD
CA390044364
rs1358996802
1466 P>R No ClinGen
TOPMed
rs756714150
CA7230322
1470 R>G No ClinGen
ExAC
gnomAD
rs570908790
CA7230321
1471 K>R No ClinGen
1000Genomes
ExAC
gnomAD
CA390044278
rs1408422452
1479 A>V No ClinGen
TOPMed
gnomAD
CA7230320
rs765869279
1480 K>R No ClinGen
ExAC
gnomAD
rs1409357450
CA390044255
1483 I>F No ClinGen
Ensembl
rs1377781579
CA390044245
1484 S>N No ClinGen
TOPMed
rs143829550
CA7230317
1484 S>R No ClinGen
ESP
ExAC
gnomAD
CA7230314
rs140697785
1485 R>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7230313
rs140697785
1485 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
RCV001001225
CA7230315
rs373557486
1485 R>W No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1184164788
CA390044197
1491 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA7230294
rs763942503
1492 L>V No ClinGen
ExAC
gnomAD
rs1295859631
CA390044177
1493 W>G No ClinGen
gnomAD
rs1295859631
CA390044179
1493 W>R No ClinGen
gnomAD
rs1594766743
CA390044165
1494 V>G No ClinGen
Ensembl
rs772053165
CA7230291
1495 E>K No ClinGen
ExAC
gnomAD
rs1594766703
CA390044144
1497 R>S No ClinGen
Ensembl
rs1303977341
CA390044121
1501 A>V No ClinGen
gnomAD
rs141214410
CA262698807
1504 A>T No ClinGen
ESP
TOPMed
gnomAD
rs1421043694
CA390044098
1505 D>G No ClinGen
gnomAD
COSM3401410
rs1429001823
CA390044102
1505 D>N Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
rs1190796752
CA390044090
1506 Y>C No ClinGen
TOPMed
gnomAD
CA7230285
rs375743316
1509 N>Y No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA262698759
rs979945351
1510 L>P No ClinGen
Ensembl
rs1251163772
CA390044063
1511 Q>K No ClinGen
TOPMed
CA7230284
rs748548058
1512 T>A No ClinGen
ExAC
gnomAD
rs1468130075
CA390044049
1513 V>L No ClinGen
TOPMed
CA7230282
rs755530704
1515 L>P No ClinGen
ExAC
TOPMed
gnomAD
rs1297820684
CA390044031
1516 F>L No ClinGen
gnomAD
rs756897454
CA7230279
1517 M>I No ClinGen
ExAC
TOPMed
gnomAD
CA7230280
rs146588994
1517 M>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs146588994
CA7230281
1517 M>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs200187680
CA7230278
1519 K>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA262698720
rs890997122
1520 N>T No ClinGen
TOPMed
gnomAD
CA390043970
rs1240372784
1522 T>I No ClinGen
gnomAD
CA7230248
rs765352994
1524 Q>K No ClinGen
ExAC
gnomAD
rs1457666793
CA390043955
1525 N>D No ClinGen
gnomAD
CA7230247
rs373724473
1525 N>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1457666793
CA390043954
1525 N>Y No ClinGen
gnomAD
rs1411392408
CA390043930
1528 L>P No ClinGen
Ensembl
rs747387364
CA7230244
1529 G>C No ClinGen
ExAC
TOPMed
gnomAD
CA390043928
rs747387364
1529 G>S No ClinGen
ExAC
TOPMed
gnomAD
rs775909340
CA7230243
1530 H>R No ClinGen
ExAC
TOPMed
gnomAD
rs149999354
CA390043913
1531 T>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs149999354
CA7230242
1531 T>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs149999354
CA390043912
1531 T>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7230240
rs200639803
1532 P>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs868739957
CA262695926
1533 R>Q No ClinGen
gnomAD
CA7230238
rs140301241
1533 R>W Variant assessed as Somatic; 4.67e-05 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA390043899
rs1400842547
1534 V>A No ClinGen
gnomAD
CA7230237
rs780839859
1536 D>G No ClinGen
ExAC
gnomAD
CA7230234
rs766366799
1541 G>W No ClinGen
ExAC
gnomAD
rs1460983869
CA390043831
1545 V>M Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA262695859
rs753726387
1547 A>T No ClinGen
gnomAD
rs758456079
CA7230233
1547 A>V No ClinGen
ExAC
gnomAD
rs377634587
COSM40652
CA7230231
1548 A>V Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA390043801
rs1336461504
1549 E>D No ClinGen
TOPMed
CA390043800
rs776854894
1550 I>F No ClinGen
ExAC
TOPMed
gnomAD
rs776854894
CA7230229
1550 I>V No ClinGen
ExAC
TOPMed
gnomAD
COSM1266754
rs760176952
CA7230227
1551 D>N oesophagus [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs1239239273
CA390043787
1552 C>R No ClinGen
gnomAD
rs1359866151
CA390043762
1555 L>F No ClinGen
gnomAD
rs1307153504
CA390043761
1555 L>P No ClinGen
TOPMed
CA7230226
RCV001507835
rs140648376
1557 E>G No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA7230225
rs373885193
1558 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs746416668
CA7230224
1558 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs373885193
CA390043743
1558 R>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA390043731
rs1465230559
1560 G>E No ClinGen
TOPMed
rs769407207
CA7230222
1561 H>P No ClinGen
ExAC
gnomAD
rs878914236
CA262695772
1561 H>Y No ClinGen
gnomAD
CA7230221
rs147213872
1563 Q>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA390043707
rs1472065566
1564 S>N No ClinGen
gnomAD
CA7230220
rs780852707
1565 S>T No ClinGen
ExAC
gnomAD
rs1427578525
CA390043683
1567 D>E No ClinGen
TOPMed
rs138126360
RCV001000295
CA7230218
RCV002068749
1567 D>H No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA7230219
rs138126360
1567 D>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA7230216
rs139446085
1570 R>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA7230217
rs780033343
1570 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA262695735
rs927272478
1571 E>V No ClinGen
TOPMed
rs750432544
CA7230215
1573 A>V No ClinGen
ExAC
gnomAD
rs1437656100
CA390043649
1574 A>T No ClinGen
TOPMed
rs368865153
CA7230212
1575 G>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA390043638
rs1594762236
1576 R>G No ClinGen
Ensembl
CA390043625
rs1337741915
1578 Q>E No ClinGen
gnomAD
rs927773729
CA262695697
1578 Q>R No ClinGen
Ensembl
RCV001508365
rs760938057
1579 R>* No ClinVar
dbSNP
CA7230209
rs376789095
1579 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA390043614
rs1350852044
1580 L>V No ClinGen
TOPMed
gnomAD
rs372204766
CA7230206
1583 A>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7230205
rs372204766
1583 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1329787884
CA390043587
1584 N>S No ClinGen
TOPMed
rs776051162
CA7230203
1585 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA390043576
rs1421537038
1586 A>T No ClinGen
TOPMed
gnomAD
RCV001813125
rs746722532
1589 Y>* No ClinVar
dbSNP
CA7230199
rs549797168
1591 L>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA7230198
rs536189861
1592 D>Y No ClinGen
1000Genomes
ExAC
gnomAD
CA7230197
rs778870352
1593 A>E No ClinGen
ExAC
gnomAD
rs778870352
CA390043523
1593 A>V No ClinGen
ExAC
gnomAD
rs138279396
CA390043517
CA390043516
1594 D>E No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA7230195
rs753933934
1594 D>N No ClinGen
ExAC
gnomAD
CA7230193
rs756327499
1595 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1330864772
CA390043459
1602 E>D No ClinGen
gnomAD
CA390043461
rs1434837735
1602 E>G No ClinGen
gnomAD
COSM194074
CA390043466
rs1180402020
1602 E>K large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs4899145
CA7230189
1606 Y>* No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs527302642
CA7230191
1606 Y>C No ClinGen
1000Genomes
ExAC
gnomAD
rs527302642
CA7230190
1606 Y>S No ClinGen
1000Genomes
ExAC
gnomAD
rs763407007
CA7230187
1607 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs1018561609
CA262695642
1608 I>L No ClinGen
TOPMed
rs1169975625
CA390043422
1608 I>T No ClinGen
gnomAD
rs1427595749
CA390043414
1610 D>N No ClinGen
TOPMed
gnomAD
CA7230183
rs775215288
1614 K>E No ClinGen
ExAC
gnomAD
CA390043336
rs537141390
1619 A>S No ClinGen
ExAC
TOPMed
gnomAD
CA7230163
rs537141390
1619 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA390043335
rs1322921068
1619 A>V No ClinGen
gnomAD
rs229592
CA390043326
1620 I>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA390043331
rs1594761407
1620 I>V No ClinGen
Ensembl
CA390043325
rs1229350121
1621 V>M No ClinGen
TOPMed
gnomAD
rs1361492153
CA390043300
1624 K>M No ClinGen
gnomAD
CA7230160
rs749125417
1625 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA390043291
rs1392262841
1626 H>N No ClinGen
Ensembl
CA390043276
COSM1370606
rs755882611
1628 R>L Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA7230159
rs755882611
1628 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA390043277
rs1457032754
1628 R>W No ClinGen
gnomAD
RCV001810679
rs372503030
CA7230158
1631 R>C No ClinGen
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs201082918
CA7230157
1631 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs201082918
CA390043256
1631 R>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs781286844
CA390043251
1632 A>E No ClinGen
ExAC
TOPMed
gnomAD
rs1411013976
CA390043252
1632 A>S No ClinGen
gnomAD
rs1411013976
CA390043254
1632 A>T No ClinGen
gnomAD
rs781286844
CA7230156
1632 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA390043237
rs1594761292
1633 V>G No ClinGen
Ensembl
rs1264943949
CA390043244
1633 V>M No ClinGen
TOPMed
gnomAD
CA7230154
rs747251107
1634 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs901736099
CA262691929
1635 D>G No ClinGen
TOPMed
rs780335342
CA390043213
1635 D>N No ClinGen
ExAC
TOPMed
gnomAD
rs780335342
CA7230153
1635 D>Y No ClinGen
ExAC
TOPMed
gnomAD
rs1299401986
CA390043190
1636 Y>C No ClinGen
TOPMed
CA390043197
rs1323954872
1636 Y>N No ClinGen
TOPMed
gnomAD
CA390043173
rs1227874792
1637 G>S No ClinGen
gnomAD
rs368063704
CA7230151
1638 R>W No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs765799075
CA7230150
1639 N>S No ClinGen
ExAC
TOPMed
gnomAD
rs1359689800
CA390043127
1641 K>E No ClinGen
gnomAD
CA390043122
rs1293840327
1641 K>R No ClinGen
gnomAD
rs1459384589
CA390043111
1642 Q>E No ClinGen
gnomAD
rs867559352
CA262691904
1644 A>V No ClinGen
Ensembl
rs1004837830
CA262691884
1645 S>N No ClinGen
TOPMed
CA7230148
rs752231474
1646 R>Q No ClinGen
ExAC
gnomAD
CA7230149
rs111849078
1646 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs1425099247
CA390043042
1647 A>S No ClinGen
gnomAD
CA7230147
rs766992918
1649 G>D No ClinGen
ExAC
gnomAD
rs766992918
CA390043004
1649 G>V No ClinGen
ExAC
gnomAD
rs759219902
CA7230146
1652 S>C No ClinGen
ExAC
gnomAD
CA390042955
rs1261470871
1653 A>V No ClinGen
gnomAD
CA390042917
rs1192200629
1656 P>S No ClinGen
gnomAD
rs567367723
CA262691837
1658 G>E No ClinGen
TOPMed
gnomAD
CA262690545
rs1049329878
1661 I>V No ClinGen
TOPMed
CA7230109
rs749681760
1664 L>F No ClinGen
ExAC
gnomAD
rs1023936846
CA262690510
1664 L>P No ClinGen
Ensembl
rs778089194
CA7230108
1665 Q>K No ClinGen
ExAC
gnomAD
CA390042564
rs1256890835
1666 G>E No ClinGen
gnomAD
RCV001091050
rs2082308925
1668 V>missing No ClinVar
dbSNP
CA7230107
rs756672281
1668 V>A No ClinGen
ExAC
TOPMed
gnomAD
rs1477804445
CA390042539
1668 V>M No ClinGen
TOPMed
CA7230106
rs751016084
1669 D>E No ClinGen
ExAC
gnomAD
CA7230105
rs201504825
1671 H>Q No ClinGen
1000Genomes
ExAC
gnomAD
rs762226943
CA7230104
1672 Y>C No ClinGen
ExAC
TOPMed
gnomAD
rs756999416
CA7230101
1673 A>P No ClinGen
ExAC
gnomAD
CA7230102
rs756999416
1673 A>S No ClinGen
ExAC
gnomAD
rs756999416
CA390042457
1673 A>T No ClinGen
ExAC
gnomAD
rs773895447
CA7230100
1674 G>E No ClinGen
ExAC
TOPMed
gnomAD
CA7230097
rs775419321
1675 L>V No ClinGen
ExAC
gnomAD
CA390042380
rs188341589
1678 V>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA7230095
rs188341589
1678 V>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA7230094
rs774655120
COSM2248549
1679 A>V pancreas [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs868011757
CA262690341
1680 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs111611921
CA7230090
1682 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs111611921
CA7230091
1682 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs748760619
CA7230089
COSM174055
1682 R>H ovary large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs748760619
CA390042313
1682 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs781558180
CA7230088
1683 K>R No ClinGen
ExAC
gnomAD
RCV000733351
CA7230087
rs141226650
1684 R>C No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs148074782
CA7230085
1684 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7230086
rs148074782
1684 R>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1489168804
CA390042287
1685 K>E No ClinGen
gnomAD
CA390042256
rs1204496414
1687 E>G No ClinGen
gnomAD
CA390042264
rs1200865169
1687 E>K No ClinGen
TOPMed
rs375616137
CA7230082
1688 N>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7230079
rs767572838
1689 M>I No ClinGen
ExAC
gnomAD
rs752610763
CA7230080
1689 M>V No ClinGen
ExAC
gnomAD
CA7230077
rs774600016
1694 Q>R No ClinGen
ExAC
TOPMed
gnomAD
rs1362857968
CA390042134
1695 L>F No ClinGen
gnomAD
RCV001001746
CA7230074
rs199551302
1697 R>Q No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs763298902
CA7230075
1697 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA390042074
rs1165481787
1699 T>N No ClinGen
gnomAD
rs748477590
CA390042065
1700 D>H No ClinGen
ExAC
TOPMed
gnomAD
COSM3719661
rs748477590
CA7230072
1700 D>N haematopoietic_and_lymphoid_tissue [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA7230069
rs369208136
1701 D>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA7230070
rs369208136
1701 D>Y Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1260772700
CA390042019
1703 E>* No ClinGen
gnomAD
CA390042012
rs1192288927
1703 E>A No ClinGen
gnomAD
rs778444104
CA7230068
1713 A>V No ClinGen
ExAC
gnomAD
rs376122148
CA262690122
1714 S>T No ClinGen
ESP
CA262690117
rs991520284
1715 S>C No ClinGen
TOPMed
gnomAD
CA7230067
rs146532725
1716 P>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs777293570
CA7230065
1717 E>K No ClinGen
ExAC
gnomAD
COSM3744412
CA7230063
rs752454815
CA7230064
1721 D>E liver [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA390041732
rs1487638521
1721 D>Y No ClinGen
TOPMed
CA7230060
rs145753633
1725 V>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1439284112
CA390041633
1726 T>I No ClinGen
gnomAD
rs762481264
CA7230032
1727 L>F No ClinGen
ExAC
gnomAD
CA262689596
RCV001812432
rs753928257
1729 R>G No ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
CA7230030
rs769460523
1729 R>L No ClinGen
ExAC
gnomAD
rs769460523
CA262689561
1729 R>Q No ClinGen
ExAC
gnomAD
CA7230031
rs753928257
1729 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs1278963787
CA390041502
1730 D>E No ClinGen
gnomAD
rs747858034
CA390041517
1730 D>N No ClinGen
ExAC
gnomAD
CA7230029
rs747858034
1730 D>Y No ClinGen
ExAC
gnomAD
CA390041460
rs1361177309
1733 R>Q No ClinGen
TOPMed
gnomAD
rs781000542
CA7230028
1733 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA390041418
rs1311263389
1736 A>T No ClinGen
gnomAD
CA7230026
rs561976171
1737 R>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA7230027
rs149727354
1737 R>W No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1216559614
CA390041409
1738 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs541815393
CA262689487
1740 G>R No ClinGen
1000Genomes
TOPMed
gnomAD
rs1422841899
CA390041388
1741 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
COSM1370604
rs745940095
CA7230023
1741 A>V Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA262689418
rs929853070
1745 E>Q No ClinGen
TOPMed
rs764312726
CA7230019
1746 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs200080131
CA7230020
1746 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA7230018
rs756419736
1749 N>D No ClinGen
ExAC
gnomAD
CA7230017
rs753089242
1749 N>S No ClinGen
ExAC
gnomAD
CA7230015
rs760005477
1751 N>S No ClinGen
ExAC
TOPMed
gnomAD
CA262689368
rs772761835
1752 A>D No ClinGen
ExAC
TOPMed
gnomAD
rs772761835
CA262689358
1752 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs764588479
CA7230013
1754 I>V No ClinGen
ExAC
gnomAD
rs374977591
CA262689334
1755 E>K No ClinGen
ESP
RCV001813118
rs776376302
CA262689316
1756 R>L No ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs776376302
CA7230011
1756 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA7230010
rs768458105
1758 I>F No ClinGen
ExAC
gnomAD
CA390041287
rs1288432051
1758 I>T No ClinGen
TOPMed
rs775200185
CA7230008
1759 D>N No ClinGen
ExAC
gnomAD
CA7230006
rs745859916
1760 A>T No ClinGen
ExAC
gnomAD
CA7230005
rs778913256
1760 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs1264873239
CA390041272
1761 G>S No ClinGen
gnomAD
rs200617821
CA7230003
RCV001811009
1763 S>G No ClinGen
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1222896246
CA390041251
1764 E>K No ClinGen
TOPMed
gnomAD
rs1318954030
CA390041218
1769 A>T No ClinGen
gnomAD
rs375893423
CA7229997
1770 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
gnomAD
rs953620091
CA262689201
1771 W>R No ClinGen
TOPMed
rs1360974439
CA390041195
1772 K>T No ClinGen
gnomAD
CA390041182
rs1389090249
1774 G>R No ClinGen
TOPMed
rs761370429
CA7229995
1776 N>Y No ClinGen
ExAC
gnomAD
rs763816993
CA7229993
1777 E>K No ClinGen
ExAC
gnomAD
CA390041151
rs1490526768
1778 M>I No ClinGen
gnomAD
CA390041104
rs1321981607
1785 L>F No ClinGen
TOPMed
rs1011120419
CA262689128
1786 I>T No ClinGen
TOPMed
rs1594758947
CA390041086
1788 T>A No ClinGen
Ensembl
rs1167836684
CA390041081
COSM957057
1788 T>M Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
CA7229989
rs745688508
1789 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA262689089
rs139477432
1789 R>H No ClinGen
ESP
TOPMed
gnomAD
rs1192295823
CA390041071
1790 M>I No ClinGen
gnomAD
rs1030785965
CA262689086
1790 M>V No ClinGen
TOPMed
CA7229988
rs768086142
1792 L>Q No ClinGen
ExAC
gnomAD
CA390041018
rs1251681287
1794 A>G No ClinGen
gnomAD
rs749332448
CA7229986
1795 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1356951148
CA390041004
1797 Y>H No ClinGen
TOPMed
rs769986867
CA7229984
1800 H>P No ClinGen
ExAC
gnomAD
rs769986867
CA390040982
1800 H>R No ClinGen
ExAC
gnomAD
rs777877007
CA7229985
1800 H>Y No ClinGen
ExAC
gnomAD
CA7229982
rs781493805
1801 R>C No ClinGen
ExAC
gnomAD
CA7229983
rs781493805
1801 R>G No ClinGen
ExAC
gnomAD
rs755253000
CA7229981
1801 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA390040971
rs1594758877
1802 Y>C No ClinGen
Ensembl
rs142051792
CA7229978
1805 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA262689005
rs1046495906
1805 T>S No ClinGen
TOPMed
rs753387708
CA7229977
1806 G>A No ClinGen
ExAC
TOPMed
gnomAD
rs143950158
CA7229975
1808 E>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1372870402
CA390040911
1812 L>F No ClinGen
gnomAD
CA7229972
rs142187216
1813 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA390040895
rs1458297386
1814 D>G No ClinGen
gnomAD
rs1193527563
CA390040898
1814 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA7229969
rs751881161
1815 E>K No ClinGen
ExAC
gnomAD
CA390040884
rs1480466529
1816 K>E No ClinGen
gnomAD
rs773272203
CA7229968
1817 H>Y No ClinGen
ExAC
gnomAD
rs548493652
CA7229967
1818 R>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA7229966
rs748286261
1818 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA7229964
rs200386310
1819 E>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1304147798
CA390040850
1821 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA262688893
rs763716590
1822 E>K No ClinGen
TOPMed
gnomAD
rs138157205
CA390040834
1824 V>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs138157205
CA7229958
1824 V>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA390040827
rs1173587715
1825 G>E No ClinGen
gnomAD
rs370441240
CA7229955
1828 A>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs370441240
CA7229956
1828 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs766226678
CA7229953
RCV000756717
1829 S>N No ClinGen
ClinVar
ExAC
dbSNP
gnomAD
rs773088290
CA7229952
1830 T>K No ClinGen
ExAC
TOPMed
gnomAD
rs773088290
CA7229951
1830 T>M No ClinGen
ExAC
TOPMed
gnomAD
rs773088290
CA390040797
1830 T>R No ClinGen
ExAC
TOPMed
gnomAD
rs532526634
CA7229948
1832 E>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1352830843
CA390040782
1833 S>P No ClinGen
gnomAD
CA262688783
rs1025613350
1834 F>L No ClinGen
Ensembl
rs1340521360
CA390040759
1836 R>P No ClinGen
gnomAD
CA390040760
rs1340521360
1836 R>Q No ClinGen
gnomAD
rs1237768541
CA390040761
1836 R>W No ClinGen
gnomAD
rs1327485592
CA390040757
1837 V>M No ClinGen
gnomAD
CA7229946
rs747322463
1838 H>R No ClinGen
ExAC
TOPMed
gnomAD
rs775861576
CA7229945
1840 A>D No ClinGen
ExAC
gnomAD
CA390040727
rs772509663
CA7229944
1841 F>L No ClinGen
ExAC
gnomAD
CA390040732
rs1420676524
1841 F>L No ClinGen
gnomAD
rs1157307521
CA390040726
1842 E>K No ClinGen
TOPMed
gnomAD
rs1157307521
CA390040725
1842 E>Q No ClinGen
TOPMed
gnomAD
rs553755523
CA7229943
1843 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs534004149
COSM76583
CA7229941
1843 R>Q ovary Variant assessed as Somatic; 5.233e-05 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
1000Genomes
ExAC
NCI-TCGA
gnomAD
CA7229942
rs553755523
1843 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA262688718
rs895736691
1844 E>G No ClinGen
gnomAD
rs1474309123
CA390040708
1845 L>F No ClinGen
gnomAD
rs1394325411
CA390040707
1845 L>H Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA7229939
rs780809373
1846 H>N No ClinGen
ExAC
TOPMed
gnomAD
rs1384561485
COSM1515968
CA390040685
1849 G>C lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs751142647
CA7229937
1850 V>G No ClinGen
ExAC
gnomAD
CA7229936
rs377094747
1851 Q>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs369630504
CA7229915
1858 V>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA390040600
rs1594757359
1860 T>P No ClinGen
Ensembl
rs757007250
CA7229914
1861 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA390040593
rs757007250
1861 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA7229913
rs375479678
1861 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs763962262
CA7229912
1866 Y>F No ClinGen
ExAC
gnomAD
CA390040564
rs1238188714
1866 Y>H No ClinGen
gnomAD
CA7229911
rs760795766
1868 G>A No ClinGen
ExAC
gnomAD
rs1271832569
CA390040530
1871 A>T No ClinGen
gnomAD
rs775750950
CA7229910
1872 E>K No ClinGen
ExAC
gnomAD
rs1306312978
CA390040518
1873 A>T No ClinGen
gnomAD
CA7229908
rs759894414
1879 Q>K No ClinGen
ExAC
gnomAD
rs185125059
CA7229907
1879 Q>R No ClinGen
1000Genomes
ExAC
gnomAD
CA7229906
rs771256092
1880 E>G No ClinGen
ExAC
TOPMed
gnomAD
CA390040459
rs1328396050
CA390040458
1881 V>L No ClinGen
gnomAD
rs373473270
CA390040441
1884 A>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
RCV001297481
rs373473270
CA7229904
1884 A>T No ClinGen
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA7229901
rs779601232
1887 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA390040403
rs1209365743
1890 D>A No ClinGen
gnomAD
CA7229897
rs757030587
RCV001002645
1890 D>N No ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
CA7229896
rs753608080
1892 C>R No ClinGen
ExAC
gnomAD
CA390040377
rs1371219955
1894 G>E No ClinGen
gnomAD
CA7229894
rs116677071
1894 G>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs759689339
CA7229891
COSM194073
1895 R>C Variant assessed as Somatic; 0.0 impact. large_intestine breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs1357134262
CA390040372
1895 R>H No ClinGen
TOPMed
gnomAD
rs1357134262
CA390040370
1895 R>L No ClinGen
TOPMed
gnomAD
CA7229890
rs147607076
1896 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1310916716
CA390040368
1896 R>W No ClinGen
gnomAD
CA7229889
rs147013623
1897 T>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA262686908
rs148911293
1897 T>I No ClinGen
ESP
TOPMed
gnomAD
CA390040359
rs1398484902
1898 Q>K No ClinGen
gnomAD
CA390040357
rs1566744840
1898 Q>R No ClinGen
Ensembl
rs763349032
CA7229888
1899 L>I No ClinGen
ExAC
gnomAD
rs773500781
CA7229887
1900 V>M No ClinGen
ExAC
gnomAD
CA390040344
rs1448965155
1901 D>N No ClinGen
Ensembl
CA390040333
rs747851511
1902 T>K No ClinGen
ExAC
TOPMed
gnomAD
CA7229886
rs747851511
1902 T>M No ClinGen
ExAC
TOPMed
gnomAD
CA7229884
rs200540305
1903 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs745394216
CA7229882
1904 D>G No ClinGen
ExAC
TOPMed
gnomAD
rs145604702
CA7229881
1906 F>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs770527904
CA7229880
1907 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA7229879
rs368348495
1907 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA390040301
rs368348495
1907 R>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs576500528
CA7229878
1909 F>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs756115510
CA7229877
1910 S>I No ClinGen
ExAC
TOPMed
gnomAD
CA262686798
rs756115510
1910 S>T No ClinGen
ExAC
TOPMed
gnomAD
rs1291643280
CA390040266
1912 A>D No ClinGen
gnomAD
rs752611530
CA7229876
1913 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs201489818
CA7229875
1913 R>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA7229874
rs755057264
1914 D>V No ClinGen
ExAC
gnomAD
CA390040250
rs1428484387
1915 L>F No ClinGen
gnomAD
CA7229871
rs149678681
1917 S>F No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs766604416
CA7229872
1917 S>P No ClinGen
ExAC
gnomAD
CA7229869
rs374275794
1921 S>G No ClinGen
ESP
ExAC
gnomAD
CA7229870
rs374275794
1921 S>R No ClinGen
ESP
ExAC
gnomAD
CA7229868
rs201844140
1921 S>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1420592937
CA390040204
1922 I>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs764617663
CA390040191
1924 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs182057003
CA262686717
1924 R>Q No ClinGen
1000Genomes
TOPMed
rs764617663
CA7229866
1924 R>W Variant assessed as Somatic; 9.24e-05 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs759057720
CA7229865
1925 Q>L No ClinGen
ExAC
gnomAD
CA390040176
rs139457633
1926 I>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA390040181
rs1469854717
1926 I>V No ClinGen
gnomAD
rs1232851302
CA390040175
1927 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA390040136
rs1307874385
1932 P>S No ClinGen
TOPMed
gnomAD
CA7229850
rs754243214
1935 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs1202249104
CA390040065
1941 L>P No ClinGen
gnomAD
CA390040050
rs1468563153
1943 K>R No ClinGen
TOPMed
CA7229847
rs772454723
1944 Y>S No ClinGen
ExAC
TOPMed
gnomAD
rs370190815
CA390040025
1946 Q>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA390040016
rs1302137506
1948 I>V No ClinGen
gnomAD
CA7229844
rs772947721
1949 N>S No ClinGen
ExAC
TOPMed
gnomAD
CA390039999
rs1410690035
1950 A>G No ClinGen
TOPMed
rs138039383
CA7229843
RCV000756718
1952 I>T No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1594755901
CA390039975
1954 T>P No ClinGen
Ensembl
CA7229841
rs776627782
1955 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA7229842
rs747917733
COSM285341
1955 R>W Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA7229839
rs746858620
1956 S>N No ClinGen
ExAC
gnomAD
CA7229840
rs768636719
1956 S>R No ClinGen
ExAC
gnomAD
CA390039961
rs1041944546
1956 S>R No ClinGen
TOPMed
CA390039949
rs1594755885
1958 N>T No ClinGen
Ensembl
rs199572062
CA7229838
1959 F>S No ClinGen
1000Genomes
ExAC
gnomAD
CA7229837
rs758361668
1964 E>G No ClinGen
ExAC
gnomAD
CA262685237
rs779077726
1966 G>D Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA7229836
rs143489400
1966 G>S No ClinGen
1000Genomes
ExAC
gnomAD
CA7229835
rs779077726
1966 G>V No ClinGen
ExAC
gnomAD
CA7229834
rs144016437
1967 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1482611902
CA390039883
1968 S>C No ClinGen
gnomAD
rs1280691745
CA390039873
1970 L>P No ClinGen
TOPMed
gnomAD
CA390039874
rs1280691745
1970 L>Q No ClinGen
TOPMed
gnomAD
CA7229833
rs529298380
1972 R>W No ClinGen
1000Genomes
ExAC
gnomAD
rs1594755834
CA390039851
1974 H>D No ClinGen
Ensembl
rs959784550
CA262685187
1974 H>R No ClinGen
TOPMed
gnomAD
CA7229830
rs753088107
1976 A>T No ClinGen
ExAC
gnomAD
CA7229804
rs201049665
1981 R>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA7229803
rs201049665
1981 R>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs146513976
CA7229801
RCV000756714
1981 R>H No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs146513976
CA7229802
1981 R>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA7229799
rs145664609
1982 E>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA390039746
rs1274699639
1988 M>V No ClinGen
gnomAD
CA7229797
rs749393104
1989 S>C No ClinGen
ExAC
gnomAD
CA7229796
rs777814175
1990 R>S No ClinGen
ExAC
gnomAD
CA7229795
rs368955956
1991 R>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1228595311
CA390039722
1991 R>S No ClinGen
gnomAD
rs1220872610
CA390039688
1996 E>K No ClinGen
TOPMed
rs573846501
CA7229794
1997 K>N No ClinGen
1000Genomes
ExAC
gnomAD
CA390039672
rs1395246319
1998 W>R No ClinGen
gnomAD
CA262684462
rs760877945
2000 A>T No ClinGen
TOPMed
gnomAD
CA7229793
rs376489437
2001 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs148593138
CA7229792
2001 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA262684428
rs148593138
2001 R>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1168342444
CA390039635
2003 E>G No ClinGen
gnomAD
rs144839610
CA7229790
2004 R>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7229789
rs372967907
2004 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7229791
rs144839610
2004 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA390039627
rs1454353070
2005 L>F No ClinGen
gnomAD
CA390039625
rs1254275602
2005 L>P No ClinGen
gnomAD
rs140490240
CA7229786
2006 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs767230972
CA7229785
2006 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs767230972
CA7229784
2006 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs767230972
CA390039621
2006 R>P No ClinGen
ExAC
TOPMed
gnomAD
CA262684333
rs1027966609
2007 M>I No ClinGen
Ensembl
CA390039576
rs1377241560
2011 V>A No ClinGen
gnomAD
CA7229766
rs755580710
2012 C>Y No ClinGen
ExAC
gnomAD
CA390039559
rs1413431965
2013 Q>H No ClinGen
gnomAD
CA390039562
rs1406790023
2013 Q>R No ClinGen
gnomAD
rs752332760
CA7229765
2015 S>L No ClinGen
ExAC
gnomAD
rs754723993
CA7229763
2017 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs775701663
CA262682865
2019 S>F No ClinGen
gnomAD
CA390039517
rs1405939052
2020 V>G No ClinGen
TOPMed
rs1486186891
CA390039521
2020 V>L No ClinGen
TOPMed
gnomAD
rs929734499
RCV001811591
CA262682848
2021 A>P No ClinGen
ClinVar
TOPMed
dbSNP
gnomAD
rs1028735989
CA262682846
2022 E>D No ClinGen
TOPMed
gnomAD
CA390039501
rs367841692
2023 A>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA390039488
rs1327398928
2025 L>V No ClinGen
gnomAD
CA390039444
rs1287925327
2031 Y>C No ClinGen
gnomAD
rs745476248
COSM3956152
CA262682837
2034 S>N lung [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
CA390039422
rs1206516197
2035 G>R No ClinGen
TOPMed
gnomAD
CA390039420
rs1206516197
2035 G>W No ClinGen
TOPMed
gnomAD
CA7229758
rs373697277
2039 H>Y No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA390039380
rs1345709572
2040 T>R No ClinGen
gnomAD
CA7229756
rs776954379
2041 V>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1279582799
CA390039363
2043 S>N Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA390039360
rs1165149172
2043 S>R No ClinGen
gnomAD
CA390039362
rs1279582799
2043 S>T No ClinGen
TOPMed
gnomAD
CA390039352
rs1416341754
2045 E>K No ClinGen
gnomAD
rs906427175
COSM348969
CA262682723
2050 R>S lung [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
CA262682718
rs12888773
2051 H>Q No ClinGen
Ensembl
rs200806426
CA7229751
2057 S>Y No ClinGen
1000Genomes
ExAC
rs756849461
RCV001290762
CA7229750
2058 T>M No ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs780791721
CA7229748
2060 S>G No ClinGen
ExAC
gnomAD
CA390039230
rs1302703654
2062 A>E No ClinGen
gnomAD
rs1310397240
CA390039227
2063 E>K No ClinGen
gnomAD
CA7229745
rs779889677
2064 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA7229746
rs779889677
2064 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs121918650
CA7229744
2064 R>H No ClinGen
ExAC
TOPMed
gnomAD
RCV001810627
rs143894722
CA7229743
2065 F>V No ClinGen
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1327732912
CA390039203
2067 A>T No ClinGen
TOPMed
rs1454069256
CA390039175
2071 P>S No ClinGen
TOPMed
CA7229741
rs138377308
2073 T>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA390039137
rs1235889026
2075 E>G No ClinGen
gnomAD
CA7229719
rs192618182
2079 R>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs759910047
CA7229717
2080 Q>H No ClinGen
ExAC
gnomAD
rs146990471
CA7229716
2081 I>T No ClinGen
ExAC
TOPMed
gnomAD
rs1361547791
CA390039100
2081 I>V No ClinGen
TOPMed
rs1164312867
CA390039095
2082 A>T No ClinGen
TOPMed
CA7229715
rs771454363
2083 E>D No ClinGen
ExAC
gnomAD
rs1186658009
CA390039089
2083 E>K No ClinGen
gnomAD
CA7229713
rs773712048
2084 R>I No ClinGen
ExAC
gnomAD
rs773712048
CA7229714
2084 R>K No ClinGen
ExAC
gnomAD
rs746553902
CA390039070
2086 A>S No ClinGen
ExAC
TOPMed
gnomAD
rs746553902
CA7229711
COSM1227460
2086 A>T Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA7229710
rs201339590
2087 E>G No ClinGen
1000Genomes
ExAC
gnomAD
rs201339590
CA7229709
2087 E>V No ClinGen
1000Genomes
ExAC
gnomAD
CA7229687
rs771754701
2091 P>L No ClinGen
ExAC
gnomAD
rs745447608
CA7229686
CA262681626
2093 E>D No ClinGen
ExAC
TOPMed
gnomAD
rs1328912901
CA390038920
2093 E>K No ClinGen
gnomAD
rs748216421
CA262681623
2094 E>K No ClinGen
Ensembl
rs774068563
CA7229685
2094 E>V No ClinGen
ExAC
gnomAD
CA390038857
rs1312598730
2100 G>R No ClinGen
gnomAD
rs1330172047
CA390038814
2103 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs749123042
CA7229683
RCV001002502
2105 S>A No ClinGen
ClinVar
ExAC
dbSNP
gnomAD
rs1395474623
CA390038786
2105 S>F No ClinGen
gnomAD
rs1456168742
CA390038780
2106 H>D No ClinGen
TOPMed
gnomAD
rs1456168742
CA390038781
2106 H>Y No ClinGen
TOPMed
gnomAD
rs1566741532
CA390038758
2107 H>L No ClinGen
Ensembl
rs1594752693
CA390038749
2107 H>Q No ClinGen
Ensembl
CA7229682
rs369676353
2108 A>V No ClinGen
ESP
ExAC
TOPMed
rs1193748994
CA390038731
2109 A>T No ClinGen
gnomAD
rs748245626
CA7229680
2109 A>V No ClinGen
ExAC
gnomAD
CA7229675
rs758734157
2111 E>K No ClinGen
ExAC
gnomAD
CA7229676
rs758734157
2111 E>Q No ClinGen
ExAC
gnomAD
rs750835527
CA7229674
2113 T>M No ClinGen
ExAC
gnomAD
rs762377368
CA7229672
2115 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA390038660
rs1212051430
2115 P>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs112886579
CA262681531
2116 V>G No ClinGen
Ensembl
CA262681479
rs375155686
2120 S>F No ClinGen
ESP
TOPMed
rs773831998
CA7229668
2121 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA7229667
rs770745304
2121 R>H No ClinGen
ExAC
gnomAD
CA390038603
rs1205508644
2122 L>F No ClinGen
TOPMed
rs151232626
CA7229666
2122 L>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA7229665
rs773195221
2124 S>R No ClinGen
ExAC
gnomAD
CA390038578
rs1384892799
2126 W>R No ClinGen
gnomAD
CA7229664
rs769849087
2126 W>S No ClinGen
ExAC
gnomAD
CA7229663
rs747968623
2129 L>V No ClinGen
ExAC
gnomAD
rs371741651
CA7229662
2133 P>S No ClinGen
ESP
ExAC
rs368060934
CA262681428
2134 S>F No ClinGen
ESP
TOPMed
CA7229659
rs747154534
2136 P>H No ClinGen
ExAC
TOPMed
gnomAD
CA262681406
rs747154534
2136 P>R No ClinGen
ExAC
TOPMed
gnomAD
CA7229660
rs768567783
2136 P>T No ClinGen
ExAC
gnomAD
CA7229658
rs780235497
2137 Y>C No ClinGen
ExAC
gnomAD

No associated diseases with P11277

4 regional properties for P11277

Type Name Position InterPro Accession
domain Forkhead-associated (FHA) domain 55 - 128 IPR000253
domain Protein kinase domain 200 - 480 IPR000719
active_site Serine/threonine-protein kinase, active site 324 - 336 IPR008271
binding_site Protein kinase, ATP binding site 206 - 229 IPR017441

Functions

Description
EC Number
Subcellular Localization
  • Cytoplasm, cytoskeleton
  • Cytoplasm, cell cortex
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

11 GO annotations of cellular component

Name Definition
actin cytoskeleton The part of the cytoskeleton (the internal framework of a cell) composed of actin and associated proteins. Includes actin cytoskeleton-associated complexes.
cell junction A cellular component that forms a specialized region of connection between two or more cells, or between a cell and the extracellular matrix, or between two membrane-bound components of a cell, such as flagella.
cell projection A prolongation or process extending from a cell, e.g. a flagellum or axon.
cell surface The external part of the cell wall and/or plasma membrane.
cortical actin cytoskeleton The portion of the actin cytoskeleton, comprising filamentous actin and associated proteins, that lies just beneath the plasma membrane.
cytosol The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
intrinsic component of the cytoplasmic side of the plasma membrane The component of a plasma membrane consisting of gene products and protein complexes that have some covalently attached part (e.g. peptide sequence or GPI anchor) which is embedded in the cytoplasmic side of the plasma membrane only.
plasma membrane The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
protein-containing complex A stable assembly of two or more macromolecules, i.e. proteins, nucleic acids, carbohydrates or lipids, in which at least one component is a protein and the constituent parts function together.
spectrin Membrane associated dimeric protein (240 and 220 kDa) of erythrocytes. Forms a complex with ankyrin, actin and probably other components of the membrane cytoskeleton, so that there is a mesh of proteins underlying the plasma membrane, potentially restricting the lateral mobility of integral proteins.
spectrin-associated cytoskeleton The part of the cytoskeleton composed of spectrin, protein 4.1 and ankyrin. Spectrin-associated cytoskeleton is associated with the plasma membrane.

4 GO annotations of molecular function

Name Definition
actin binding Binding to monomeric or multimeric forms of actin, including actin filaments.
actin filament binding Binding to an actin filament, also known as F-actin, a helical filamentous polymer of globular G-actin subunits.
ankyrin binding Binding to ankyrin, a 200 kDa cytoskeletal protein that attaches other cytoskeletal proteins to integral membrane proteins.
structural constituent of cytoskeleton The action of a molecule that contributes to the structural integrity of a cytoskeletal structure.

2 GO annotations of biological process

Name Definition
actin cytoskeleton organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising actin filaments and their associated proteins.
actin filament capping The binding of a protein or protein complex to the end of an actin filament, thus preventing the addition, exchange or removal of further actin subunits.

9 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
O15020 SPTBN2 Spectrin beta chain, non-erythrocytic 2 Homo sapiens (Human) PR
Q01082 SPTBN1 Spectrin beta chain, non-erythrocytic 1 Homo sapiens (Human) PR
P35609 ACTN2 Alpha-actinin-2 Homo sapiens (Human) EV
Q08043 ACTN3 Alpha-actinin-3 Homo sapiens (Human) SS
O43707 ACTN4 Alpha-actinin-4 Homo sapiens (Human) SS
P12814 ACTN1 Alpha-actinin-1 Homo sapiens (Human) SS
Q62261 Sptbn1 Spectrin beta chain, non-erythrocytic 1 Mus musculus (Mouse) PR
P15508 Sptb Spectrin beta chain, erythrocytic Mus musculus (Mouse) PR
Q9QWN8 Sptbn2 Spectrin beta chain, non-erythrocytic 2 Rattus norvegicus (Rat) PR
10 20 30 40 50 60
MTSATEFENV GNQPPYSRIN ARWDAPDDEL DNDNSSARLF ERSRIKALAD EREVVQKKTF
70 80 90 100 110 120
TKWVNSHLAR VSCRITDLYK DLRDGRMLIK LLEVLSGEML PKPTKGKMRI HCLENVDKAL
130 140 150 160 170 180
QFLKEQRVHL ENMGSHDIVD GNHRLVLGLI WTIILRFQIQ DIVVQTQEGR ETRSAKDALL
190 200 210 220 230 240
LWCQMKTAGY PHVNVTNFTS SWKDGLAFNA LIHKHRPDLI DFDKLKDSNA RHNLEHAFNV
250 260 270 280 290 300
AERQLGIIPL LDPEDVFTEN PDEKSIITYV VAFYHYFSKM KVLAVEGKRV GKVIDHAIET
310 320 330 340 350 360
EKMIEKYSGL ASDLLTWIEQ TITVLNSRKF ANSLTGVQQQ LQAFSTYRTV EKPPKFQEKG
370 380 390 400 410 420
NLEVLLFTIQ SRMRANNQKV YTPHDGKLVS DINRAWESLE EAEYRRELAL RNELIRQEKL
430 440 450 460 470 480
EQLARRFDRK AAMRETWLSE NQRLVAQDNF GYDLAAVEAA KKKHEAIETD TAAYEERVRA
490 500 510 520 530 540
LEDLAQELEK ENYHDQKRIT ARKDNILRLW SYLQELLQSR RQRLETTLAL QKLFQDMLHS
550 560 570 580 590 600
IDWMDEIKAH LLSAEFGKHL LEVEDLLQKH KLMEADIAIQ GDKVKAITAA TLKFTEGKGY
610 620 630 640 650 660
QPCDPQVIQD RISHLEQCFE ELSNMAAGRK AQLEQSKRLW KFFWEMDEAE SWIKEKEQIY
670 680 690 700 710 720
SSLDYGKDLT SVLILQRKHK AFEDELRGLD AHLEQIFQEA HGMVARKQFG HPQIEARIKE
730 740 750 760 770 780
VSAQWDQLKD LAAFCKKNLQ DAENFFQFQG DADDLKAWLQ DAHRLLSGED VGQDEGATRA
790 800 810 820 830 840
LGKKHKDFLE ELEESRGVME HLEQQAQGFP EEFRDSPDVT HRLQALRELY QQVVAQADLR
850 860 870 880 890 900
QQRLQEALDL YTVFGETDAC ELWMGEKEKW LAEMEMPDTL EDLEVVQHRF DILDQEMKTL
910 920 930 940 950 960
MTQIDGVNLA ANSLVESGHP RSREVKQYQD HLNTRWQAFQ TLVSERREAV DSALRVHNYC
970 980 990 1000 1010 1020
VDCEETSKWI TDKTKVVEST KDLGRDLAGI IAIQRKLSGL ERDVAAIQAR VDALERESQQ
1030 1040 1050 1060 1070 1080
LMDSHPEQKE DIGQRQKHLE ELWQGLQQSL QGQEDLLGEV SQLQAFLQDL DDFQAWLSIT
1090 1100 1110 1120 1130 1140
QKAVASEDMP ESLPEAEQLL QQHAGIKDEI DGHQDSYQRV KESGEKVIQG QTDPEYLLLG
1150 1160 1170 1180 1190 1200
QRLEGLDTGW NALGRMWESR SHTLAQCLGF QEFQKDAKQA EAILSNQEYT LAHLEPPDSL
1210 1220 1230 1240 1250 1260
EAAEAGIRKF EDFLGSMENN RDKVLSPVDS GNKLVAEGNL YSDKIKEKVQ LIEDRHRKNN
1270 1280 1290 1300 1310 1320
EKAQEASVLL RDNLELQNFL QNCQELTLWI NDKLLTSQDV SYDEARNLHN KWLKHQAFVA
1330 1340 1350 1360 1370 1380
ELASHEGWLE NIDAEGKQLM DEKPQFTALV SQKLEALHRL WDELQATTKE KTQHLSAARS
1390 1400 1410 1420 1430 1440
SDLRLQTHAD LNKWISAMED QLRSDDPGKD LTSVNRMLAK LKRVEDQVNV RKEELGELFA
1450 1460 1470 1480 1490 1500
QVPSMGEEGG DADLSIEKRF LDLLEPLGRR KKQLESSRAK LQISRDLEDE TLWVEERLPL
1510 1520 1530 1540 1550 1560
AQSADYGTNL QTVQLFMKKN QTLQNEILGH TPRVEDVLQR GQQLVEAAEI DCQDLEERLG
1570 1580 1590 1600 1610 1620
HLQSSWDRLR EAAAGRLQRL RDANEAQQYY LDADEAEAWI GEQELYVISD EIPKDEEGAI
1630 1640 1650 1660 1670 1680
VMLKRHLRQQ RAVEDYGRNI KQLASRAQGL LSAGHPEGEQ IIRLQGQVDK HYAGLKDVAE
1690 1700 1710 1720 1730 1740
ERKRKLENMY HLFQLKRETD DLEQWISEKE LVASSPEMGQ DFDHVTLLRD KFRDFARETG
1750 1760 1770 1780 1790 1800
AIGQERVDNV NAFIERLIDA GHSEAATIAE WKDGLNEMWA DLLELIDTRM QLLAASYDLH
1810 1820 1830 1840 1850 1860
RYFYTGAEIL GLIDEKHREL PEDVGLDAST AESFHRVHTA FERELHLLGV QVQQFQDVAT
1870 1880 1890 1900 1910 1920
RLQTAYAGEK AEAIQNKEQE VSAAWQALLD ACAGRRTQLV DTADKFRFFS MARDLLSWME
1930 1940 1950 1960 1970 1980
SIIRQIETQE RPRDVSSVEL LMKYHQGINA EIETRSKNFS ACLELGESLL QRQHQASEEI
1990 2000 2010 2020 2030 2040
REKLQQVMSR RKEMNEKWEA RWERLRMLLE VCQFSRDASV AEAWLIAQEP YLASGDFGHT
2050 2060 2070 2080 2090 2100
VDSVEKLIKR HEAFEKSTAS WAERFAALEK PTTLELKERQ IAERPAEETG PQEEEGETAG
2110 2120 2130
EAPVSHHAAT ERTSPVSLWS RLSSSWESLQ PEPSHPY