Descriptions

PLCε is a critical regulator of calcium and DAG-dependent signaling in the cardiovascular system, where changes in its expression and/or aberrant activation result in cardiac hypertrophy and heart failure. PLCε shares four core domains common to most PLCs, including a pleckstrin homology (PH) domain, followed by four tandem EF hand repeats (EF1-4), the catalytic TIM barrel domain (split by an autoregulatory X-Y linker), and a C2 domain. In PLCε, these core domains are flanked by regions that confer responsiveness to different signal transduction pathways. The N-terminal region contains a CDC25 domain that acts as a guanine nucleotide exchange factor (GEF) for the Rap1A GTPase. This domain is essential for sustained PI hydrolysis at the perinuclear and Golgi membranes in cardiomyocytes. The C-terminal region contains two Ras association (RA) domains (RA1 and RA2) that bind activated Rap1A and Ras. PLCε is present predominantly in the cytoplasm, and is maintained in a low-activity state by the autoinhibitory X-Y linker and the C2-RA1 linker. Localization of PLCε to the perinuclear membrane through interactions between the RA1 domain and the scaffolding protein mAKAP increases lipase activity. RA1 binding to mAKAP could alter the conformation of, or displace, the C2-RA1 linker, increasing basal activity. Membrane association would also increase basal activity via interfacial activation, which may be facilitated by interactions between the αx-y helix and the membrane or, alternatively, with other domain in PLCε or proteins at the target membrane, such as activated Rap1A.

Autoinhibitory domains (AIDs)

Target domain

1392-1541 (PI-PLC X domain);1728-1846 (PI-PLC Y domain)

Relief mechanism

Ligand binding, Partner binding

Assay

Target domain

1846-1871 (A cleft between TIM barrel and C2 domain)

Relief mechanism

Ligand binding, Partner binding

Assay

Accessory elements

No accessory elements

Autoinhibited structure

Activated structure

4 structures for Q9P212

Entry ID Method Resolution Chain Position Source
2BYE NMR - A 2006-2114 PDB
2BYF NMR - A 2131-2246 PDB
2C5L X-ray 190 A C/D 2131-2246 PDB
AF-Q9P212-F1 Predicted AlphaFoldDB

2328 variants for Q9P212

Variant ID(s) Position Change Description Diseaes Association Provenance
CA10636938
RCV000299500
rs61749238
76 A>E Nephrotic syndrome, type 3 [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV001105466
RCV000908925
RCV002294185
RCV000246633
CA5612095
rs61749238
76 A>V Nephrotic syndrome, type 3 [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs761055810
RCV000354406
RCV002520645
CA5612107
99 A>V Nephrotic syndrome, type 3 [ClinVar] Yes ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
RCV000260001
rs886047493
CA10636550
108 N>S Nephrotic syndrome, type 3 [ClinVar] Yes ClinGen
ClinVar
TOPMed
dbSNP
gnomAD
rs886047495
CA10629509
RCV000320844
192 E>D Nephrotic syndrome, type 3 [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
RCV002274138
RCV001106613
rs776583769
212 D>N Nephrotic syndrome, type 3 [ClinVar] Yes ClinVar
ExAC
TOPMed
dbSNP
gnomAD
RCV002056158
CA5612159
rs373215088
RCV000344043
222 G>R Nephrotic syndrome, type 3 [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
rs774497694
RCV001106614
225 K>E Nephrotic syndrome, type 3 [ClinVar] Yes ClinVar
ExAC
TOPMed
dbSNP
gnomAD
RCV001108774
rs1304398531
238 M>T Nephrotic syndrome, type 3 [ClinVar] Yes ClinVar
dbSNP
gnomAD
RCV000295057
CA10629510
rs886047497
242 K>Q Nephrotic syndrome, type 3 [ClinVar] Yes ClinGen
ClinVar
TOPMed
dbSNP
rs374137235
RCV001330719
245 D>N Nephrotic syndrome, type 3 Variant assessed as Somatic; MODERATE impact. [ClinVar, NCI-TCGA] Yes ClinVar
ExAC
NCI-TCGA
TOPMed
dbSNP
gnomAD
RCV001108775
rs1193922904
250 Q>K Nephrotic syndrome, type 3 [ClinVar] Yes ClinVar
dbSNP
gnomAD
RCV001195710
rs781693565
252 Q>H Glomerulonephritis [ClinVar] Yes ClinVar
ExAC
TOPMed
dbSNP
gnomAD
RCV000398446
CA10632911
rs886047498
317 S>N Nephrotic syndrome, type 3 [ClinVar] Yes ClinGen
ClinVar
TOPMed
dbSNP
gnomAD
CA115501
RCV000002443
rs267606954
321 R>* Nephrotic syndrome, type 3 (nphs3) Nephrotic syndrome, type 3 [Ensembl, ClinVar] Yes ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs564879389
RCV001108777
361 W>R Nephrotic syndrome, type 3 [ClinVar] Yes 1000Genomes
ExAC
TOPMed
gnomAD
ClinVar
dbSNP
rs372621219
RCV000337057
CA5612224
364 I>V Nephrotic syndrome, type 3 [ClinVar] Yes ClinGen
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs876657369
CA10575469
RCV000002435
383 S>missing Nephrotic syndrome, type 3 [ClinVar] Yes ClinGen
ClinVar
dbSNP
rs2134504108
RCV002250248
383 S>* Nephrotic syndrome, type 3 [ClinVar] Yes ClinVar
Ensembl
dbSNP
RCV001103624
rs761213168
394 R>C Nephrotic syndrome, type 3 [ClinVar] Yes ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs2061573367
RCV001103625
398 A>G Nephrotic syndrome, type 3 [ClinVar] Yes ClinVar
Ensembl
dbSNP
RCV001103626
rs201401363
RCV000712688
401 Y>H Nephrotic syndrome, type 3 [ClinVar] Yes ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs752029771
RCV000786899
408 R>I Nephrotic syndrome, type 3 (nphs3) Nephrotic syndrome, type 3 [Ensembl, ClinVar] Yes ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs145451189
RCV000896139
RCV001103627
410 E>K Nephrotic syndrome, type 3 [ClinVar] Yes ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
CA5612343
rs199689540
RCV003556317
RCV000296944
438 V>A Nephrotic syndrome, type 3 [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
rs192219615
RCV001105569
RCV000517387
RCV002525063
CA5612364
467 T>I Nephrotic syndrome, type 3 (nphs3) Nephrotic syndrome, type 3 [Ensembl, ClinVar] Yes ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
VAR_031843
RCV000250368
RCV000710172
RCV002294181
CA5612366
RCV000302907
rs17508082
469 S>T Nephrotic syndrome, type 3 [ClinVar] Yes ClinGen
ClinVar
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA10632915
RCV000357669
rs886047499
474 T>I Nephrotic syndrome, type 3 [ClinVar] Yes ClinGen
ClinVar
dbSNP
gnomAD
RCV001967313
RCV003339835
rs150173742
491 T>N Inborn genetic diseases [ClinVar] Yes ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA115490
RCV000002436
RCV002508771
rs121912601
493 R>* Variant assessed as Somatic; HIGH impact. Nephrotic syndrome, type 3 (nphs3) Nephrotic syndrome, type 3 [NCI-TCGA, Ensembl, ClinVar] Yes ClinGen
ClinVar
ExAC
NCI-TCGA
TOPMed
dbSNP
gnomAD
RCV000514699
RCV000327511
rs61751493
CA5612404
499 R>C Nephrotic syndrome, type 3 [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs757336023
COSM1970335
RCV001105570
499 R>H Nephrotic syndrome, type 3 pancreas [ClinVar, Cosmic] Yes cosmic curated
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
RCV002284196
rs61751494
CA5612418
RCV000948377
RCV000364133
523 I>V Nephrotic syndrome, type 3 Polycystic kidney disease [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV001106712
rs369152754
548 R>C Nephrotic syndrome, type 3 [ClinVar] Yes ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV000242119
RCV000712689
VAR_031844
rs17417407
CA5612431
RCV000616298
RCV002294182
548 R>L Nephrotic syndrome, type 3 [ClinVar] Yes ClinGen
ClinVar
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV001330717
rs377400616
550 V>F Nephrotic syndrome, type 3 [ClinVar] Yes ClinVar
ESP
TOPMed
dbSNP
RCV001849870
rs2136320656
570 S>missing Nephrotic syndrome [ClinVar] Yes ClinVar
dbSNP
RCV000246926
rs141639885
RCV002225567
RCV002294183
RCV000388334
CA5612453
577 A>T Kidney disorder Nephrotic syndrome, type 3 [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV001106713
rs554159388
RCV002556091
603 E>K Nephrotic syndrome, type 3 [ClinVar] Yes ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
rs61886330
RCV000516190
RCV000891403
CA5612512
RCV001108876
643 A>S Nephrotic syndrome, type 3 (nphs3) Nephrotic syndrome, type 3 [Ensembl, ClinVar] Yes ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV001106714
rs61886330
RCV001356680
643 A>T Nephrotic syndrome, type 3 (nphs3) Nephrotic syndrome, type 3 [Ensembl, ClinVar] Yes ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV001108877
RCV001288671
rs201422605
678 M>V Nephrotic syndrome, type 3 [ClinVar] Yes ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV001108879
rs200013667
722 G>S Nephrotic syndrome, type 3 [ClinVar] Yes ClinVar
ExAC
TOPMed
dbSNP
gnomAD
CA5612615
RCV000375481
rs761776701
775 R>W Nephrotic syndrome, type 3 Variant assessed as Somatic; MODERATE impact. [ClinVar, NCI-TCGA] Yes ClinGen
ClinVar
ExAC
NCI-TCGA
TOPMed
dbSNP
gnomAD
RCV002491905
RCV001931032
rs201965980
781 L>P Nephrotic syndrome, type 3 [ClinVar] Yes ClinVar
TOPMed
dbSNP
gnomAD
RCV000336531
CA5612648
rs78217273
RCV000884580
810 I>V Nephrotic syndrome, type 3 [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs2137512478
RCV001849871
859 Q>missing Nephrotic syndrome [ClinVar] Yes ClinVar
dbSNP
CA5612694
rs372756642
RCV000287364
879 R>C Nephrotic syndrome, type 3 [ClinVar] Yes ClinGen
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV000959882
RCV000734018
CA5612706
rs61751497
RCV000342370
910 V>I Nephrotic syndrome, type 3 [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV000390276
rs758463243
CA5612708
924 G>S Nephrotic syndrome, type 3 [ClinVar] Yes ClinGen
ClinVar
ExAC
dbSNP
gnomAD
rs773857638
RCV001103722
943 A>S Nephrotic syndrome, type 3 [ClinVar] Yes ClinVar
ExAC
dbSNP
gnomAD
rs757606247
RCV001103723
948 H>Y Nephrotic syndrome, type 3 [ClinVar] Yes ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs780213480
RCV001105669
955 T>S Nephrotic syndrome, type 3 [ClinVar] Yes ClinVar
ExAC
TOPMed
dbSNP
gnomAD
RCV003420208
rs762245091
RCV000681907
987 H>R PLCE1-related condition [ClinVar] Yes ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs61751498
RCV002294420
RCV001105670
RCV002284208
RCV000948378
1000 S>N Nephrotic syndrome, type 3 Polycystic kidney disease [ClinVar] Yes ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs895782232
RCV000985026
1020 Q>* Nephrotic syndrome, type 3 [ClinVar] Yes ClinVar
Ensembl
dbSNP
VAR_087600 1020 Q>del NPHS3 [UniProt] Yes UniProt
RCV000790391
rs1589413498
1022 W>* Nephrotic syndrome, type 3 (nphs3) Nephrotic syndrome, type 3 [Ensembl, ClinVar] Yes ClinVar
Ensembl
dbSNP
rs2050907070
RCV001105671
1033 E>A Nephrotic syndrome, type 3 [ClinVar] Yes ClinVar
TOPMed
dbSNP
gnomAD
rs200419008
CA5612785
RCV003546507
RCV000366664
1045 A>S Nephrotic syndrome, type 3 [ClinVar] Yes ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs773093424
RCV001105672
1062 G>R Nephrotic syndrome, type 3 [ClinVar] Yes ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs764019766
RCV001105673
1072 N>S Nephrotic syndrome, type 3 [ClinVar] Yes ClinVar
ExAC
TOPMed
dbSNP
gnomAD
RCV001571057
CA5612837
rs61732523
RCV000275815
1094 G>A Nephrotic syndrome, type 3 [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs61732523
RCV002556092
RCV001106795
RCV002284211
1094 G>V Nephrotic syndrome, type 3 [ClinVar] Yes ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV002556093
rs775231257
RCV003293881
RCV001106796
1112 H>R Nephrotic syndrome, type 3 Inborn genetic diseases [ClinVar] Yes ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs918508213
RCV002244205
1113 K>missing Nephrotic syndrome, type 3 [ClinVar] Yes ClinVar
dbSNP
RCV000002437
rs121912602
CA115492
1116 R>* Nephrotic syndrome, type 3 (nphs3) Nephrotic syndrome, type 3 [Ensembl, ClinVar] Yes ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs2132855762
RCV001849873
1126 I>* Nephrotic syndrome [ClinVar] Yes ClinVar
dbSNP
rs778868001
RCV001106797
1150 H>R Nephrotic syndrome, type 3 [ClinVar] Yes ClinVar
ExAC
dbSNP
gnomAD
RCV001756696
rs540730568
RCV002477924
1164 T>M Nephrotic syndrome, type 3 [ClinVar] Yes ClinVar
1000Genomes
ExAC
dbSNP
gnomAD
RCV002485793
RCV002532936
rs180753337
RCV000712693
1173 S>F Nephrotic syndrome, type 3 Inborn genetic diseases [ClinVar] Yes ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
COSM1262370
rs747635422
RCV001106798
1195 R>W Nephrotic syndrome, type 3 oesophagus stomach [ClinVar, Cosmic] Yes cosmic curated
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
RCV002284221
RCV002294473
RCV001580291
rs199781223
RCV002072296
1199 G>S Kidney disorder [ClinVar] Yes ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1589433172
RCV000988437
1233 L>P Nephrotic syndrome, type 3 [ClinVar] Yes ClinVar
Ensembl
dbSNP
RCV001107433
rs975453016
1240 Y>C Nephrotic syndrome, type 3 [ClinVar] Yes ClinVar
TOPMed
dbSNP
gnomAD
CA115503
RCV002514120
rs267606955
RCV000002444
1246 R>* Nephrotic syndrome, type 3 (nphs3) Nephrotic syndrome, type 3 [Ensembl, ClinVar] Yes ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
RCV002225052
rs754487813
1278 V>L Nephrotic syndrome, type 3 [ClinVar] Yes ClinVar
ExAC
dbSNP
gnomAD
CA10575470
rs876657370
RCV000002438
1283 L>missing Nephrotic syndrome, type 3 [ClinVar] Yes ClinGen
ClinVar
dbSNP
rs1345048932
RCV001107436
1327 L>R Nephrotic syndrome, type 3 [ClinVar] Yes ClinVar
dbSNP
gnomAD
rs2051493957
RCV001103812
1376 D>V Nephrotic syndrome, type 3 [ClinVar] Yes ClinVar
Ensembl
dbSNP
rs886047502
CA10632918
RCV000372815
1389 E>K Nephrotic syndrome, type 3 [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
rs2051495579
RCV001328253
1401 Y>missing Nephrotic syndrome [ClinVar] Yes ClinVar
dbSNP
rs2051499855
RCV001330718
1423 E>D Nephrotic syndrome, type 3 [ClinVar] Yes ClinVar
Ensembl
dbSNP
RCV000380300
RCV000323390
rs766196444
CA5613111
CA5613112
1447 M>I Nephrotic syndrome, type 3 [ClinVar] Yes ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
RCV001535848
rs2133104138
1455 T>missing Nephrotic syndrome, type 3 [ClinVar] Yes ClinVar
dbSNP
RCV000283512
rs199793703
CA5613137
1471 R>H Nephrotic syndrome, type 3 [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
rs886047503
CA10629515
COSM1349953
COSM5136227
COSM1349955
RCV000340765
COSM1349954
1483 I>V Nephrotic syndrome, type 3 Variant assessed as Somatic; MODERATE impact. large_intestine [ClinVar, NCI-TCGA, Cosmic] Yes ClinGen
NCI-TCGA Cosmic
cosmic curated
ClinVar
NCI-TCGA
dbSNP
gnomAD
COSM1585217
VAR_029883
RCV000002441
COSM921664
COSM1585216
rs121912605
CA115498
1484 S>L Nephrotic syndrome, type 3 (nphs3) Nephrotic syndrome, type 3 Variant assessed as Somatic; MODERATE impact. endometrium NPHS3; gives rise to focal segmental glomerulosclerosis rather than diffuse mesangial sclerosis [Ensembl, ClinVar, NCI-TCGA, Cosmic, UniProt] Yes ClinGen
NCI-TCGA Cosmic
cosmic curated
ClinVar
UniProt
ExAC
NCI-TCGA
dbSNP
gnomAD
rs2051691492
RCV002244206
1493 Q>* Nephrotic syndrome, type 3 [ClinVar] Yes ClinVar
Ensembl
dbSNP
rs548655036
RCV001885363
RCV001823445
1495 R>* Nephrotic syndrome, type 3 [ClinVar] Yes ClinVar
1000Genomes
ExAC
dbSNP
gnomAD
CA5613212
RCV001725149
VAR_031845
RCV000254331
rs2274224
RCV000605019
RCV002294188
1575 R>P Nephrotic syndrome, type 3 [ClinVar] Yes ClinGen
ClinVar
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV000594173
CA5613213
rs2274224
RCV001105758
1575 R>Q Nephrotic syndrome, type 3 [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV000291719
CA5613220
rs61732525
1578 N>I Nephrotic syndrome, type 3 [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs61732525
RCV001105759
RCV000947271
RCV002294419
1578 N>S Kidney disorder Nephrotic syndrome, type 3 [ClinVar] Yes ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA5613236
rs765634224
RCV000344250
1604 D>Y Nephrotic syndrome, type 3 [ClinVar] Yes ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
RCV000002439
CA115494
rs121912603
1616 Q>* Nephrotic syndrome, type 3 (nphs3) Nephrotic syndrome, type 3 [Ensembl, ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
RCV001849875
rs747229979
1630 A>missing Nephrotic syndrome [ClinVar] Yes ClinVar
dbSNP
rs886047504
CA10632924
RCV000400675
1642 D>N Nephrotic syndrome, type 3 [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
RCV000785963
rs1589475328
RCV002508255
RCV001849443
RCV001849442
1660 Q>missing Nephrotic syndrome, type 3 Nephrotic syndrome [ClinVar] Yes ClinVar
dbSNP
RCV000401505
CA10632925
rs886047505
RCV003480587
1700 I>T Nephrotic syndrome, type 3 [ClinVar] Yes ClinGen
ClinVar
TOPMed
dbSNP
gnomAD
RCV000297333
CA5613336
rs781690094
1771 R>S Nephrotic syndrome, type 3 [ClinVar] Yes ClinGen
ClinVar
ExAC
dbSNP
gnomAD
RCV000616997
rs3765524
CA5613337
RCV000245651
RCV001610692
VAR_031846
RCV002294190
1777 T>I Nephrotic syndrome, type 3 [ClinVar] Yes ClinGen
ClinVar
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs2133537931
RCV002250848
1788 Y>* Nephrotic syndrome, type 3 [ClinVar] Yes ClinVar
Ensembl
dbSNP
rs2053139766
RCV002244207
1837 G>D Nephrotic syndrome, type 3 [ClinVar] Yes ClinVar
Ensembl
dbSNP
RCV002221406
rs2133612518
1840 L>V Nephrotic syndrome, type 3 [ClinVar] Yes ClinVar
Ensembl
dbSNP
rs2133612592
RCV001849876
1841 K>E Nephrotic syndrome [ClinVar] Yes ClinVar
Ensembl
dbSNP
rs776276690
RCV000256376
CA5613382
1850 C>Y Nephrotic syndrome, type 3 [ClinVar] Yes ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs1589509476
RCV000991397
1853 Y>* Nephrotic syndrome, type 3 [ClinVar] Yes ClinVar
Ensembl
dbSNP
CA115496
RCV000002440
rs121912604
1854 Q>* Variant assessed as Somatic; HIGH impact. Nephrotic syndrome, type 3 (nphs3) Nephrotic syndrome, type 3 [NCI-TCGA, Ensembl, ClinVar] Yes ClinGen
ClinVar
Ensembl
NCI-TCGA
dbSNP
RCV002484403
RCV002555357
RCV001927691
rs762506926
1871 Y>C Nephrotic syndrome, type 3 Inborn genetic diseases [ClinVar] Yes ClinVar
ExAC
TOPMed
dbSNP
gnomAD
CA5613405
rs58539480
RCV000968188
RCV002294191
RCV000253540
RCV000323870
1890 P>L Kidney disorder Nephrotic syndrome, type 3 [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
VAR_031847
RCV000250112
RCV000605587
RCV002294192
rs2274223
CA5613420
RCV001683082
1927 H>R Nephrotic syndrome, type 3 [ClinVar] Yes ClinGen
ClinVar
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA5613423
RCV000712695
rs202171627
RCV000265307
1928 V>I Nephrotic syndrome, type 3 [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA5613430
RCV002520650
rs763348713
RCV000327449
1947 A>V Nephrotic syndrome, type 3 [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
RCV001849877
rs2133673643
1984 N>missing Nephrotic syndrome [ClinVar] Yes ClinVar
dbSNP
rs2053582229
RCV001103929
2052 I>N Nephrotic syndrome, type 3 [ClinVar] Yes ClinVar
Ensembl
dbSNP
RCV001103930
rs760229823
2104 M>L Nephrotic syndrome, type 3 [ClinVar] Yes ClinVar
ExAC
TOPMed
dbSNP
gnomAD
CA5613571
rs528942664
RCV000351419
2122 V>I Nephrotic syndrome, type 3 [ClinVar] Yes ClinGen
ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
RCV003768422
rs773902333
RCV000778294
2126 K>missing Nephrotic syndrome, type 3 [ClinVar] Yes ClinVar
dbSNP
rs192586920
RCV001104206
RCV003727857
2149 P>L Nephrotic syndrome, type 3 [ClinVar] Yes ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
RCV000002442
CA115499
COSM3738795
COSM3738796
rs267606953
COSM3738797
2150 R>* Variant assessed as Somatic; HIGH impact. Nephrotic syndrome, type 3 (nphs3) Nephrotic syndrome, type 3 liver [NCI-TCGA, Ensembl, ClinVar, Cosmic] Yes ClinGen
NCI-TCGA Cosmic
cosmic curated
ClinVar
NCI-TCGA
dbSNP
gnomAD
RCV000490198
VAR_087601
CA5613605
RCV001104207
rs111929795
2173 K>R Nephrotic syndrome, type 3 (nphs3) Nephrotic syndrome, type 3 [Ensembl, ClinVar] Yes ClinGen
ClinVar
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs376129110
RCV001104208
2231 F>L Nephrotic syndrome, type 3 [ClinVar] Yes ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs180876175
RCV000984912
2253 A>T Nephrotic syndrome, type 3 [ClinVar] Yes ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
CA645372502
RCV000256386
rs886039892
RCV002518786
RCV002470831
2267 R>Q Nephrotic syndrome, type 3 [ClinVar] Yes ClinGen
ClinVar
TOPMed
dbSNP
gnomAD
RCV001328219
rs375606039
2274 Q>R Nephrotic syndrome [ClinVar] Yes ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV002490887
CA5613674
rs771798085
RCV003565432
RCV000517610
2286 E>missing Nephrotic syndrome, type 3 [ClinVar] Yes ClinGen
ClinVar
dbSNP
RCV002171780
RCV002500368
rs571727623
2288 P>T Nephrotic syndrome, type 3 [ClinVar] Yes ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
RCV001782650
rs1193230553
2301 R>* Nephrotic syndrome, type 3 [ClinVar] Yes ClinVar
dbSNP
gnomAD
rs773702940 2 T>I No TOPMed
rs199886888 4 E>K No TOPMed
gnomAD
rs199886888 4 E>Q No TOPMed
gnomAD
rs2134488348 6 M>I No Ensembl
rs2061547861 6 M>V No TOPMed
rs1564634285 8 A>T No Ensembl
rs755873612 10 V>I No ExAC
TOPMed
gnomAD
rs900776425 11 L>F No TOPMed
gnomAD
rs575611837 13 P>A No 1000Genomes
ExAC
TOPMed
gnomAD
rs770415486 13 P>L No ExAC
TOPMed
gnomAD
rs575611837 13 P>S No 1000Genomes
ExAC
TOPMed
gnomAD
rs1264873184 15 T>S No gnomAD
rs2061548251 16 Q>E No TOPMed
rs2061548294 16 Q>L No TOPMed
rs2061548294 16 Q>R No TOPMed
rs2061548343 17 R>T No TOPMed
rs866625982 18 K>E No Ensembl
rs773920088 18 K>N No ExAC
gnomAD
COSM4404032
COSM4404033
20 V>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs745312368 21 S>C No ExAC
gnomAD
rs2061548459 21 S>P No TOPMed
rs538129490 22 A>V No 1000Genomes
ExAC
TOPMed
gnomAD
rs775247624
COSM4016780
COSM4016779
24 S>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
gnomAD
rs1175295307 25 A>T No TOPMed
gnomAD
rs1464445750 25 A>V No TOPMed
rs996745960 27 D>G No TOPMed
COSM3441746
rs577951879
COSM3441747
28 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
1000Genomes
ExAC
NCI-TCGA
gnomAD
rs1424154839 29 S>G No gnomAD
rs2061548891 30 S>N No TOPMed
gnomAD
rs2061548891 30 S>T No TOPMed
gnomAD
rs1172068516 32 K>N No TOPMed
gnomAD
rs1051971566 33 V>D No TOPMed
gnomAD
rs1474301044 34 S>L No gnomAD
rs773919510 34 S>P No ExAC
gnomAD
rs1355346364 35 D>H No gnomAD
rs1463688295 36 I>V No TOPMed
gnomAD
rs763517011 37 N>S No ExAC
TOPMed
gnomAD
rs763517011 37 N>T No ExAC
TOPMed
gnomAD
rs766736677 39 S>* No ExAC
rs751680917 40 K>* No ExAC
TCGA novel 41 A>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs2061549605 41 A>V No gnomAD
rs1396274897 43 T>A No gnomAD
rs1415773380 44 V>F No TOPMed
gnomAD
rs1415773380 44 V>I No TOPMed
gnomAD
rs1415773380 44 V>L No TOPMed
gnomAD
COSM1651225
COSM921642
45 R>G Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs754972798 46 R>* No ExAC
TOPMed
gnomAD
rs754972798 46 R>G No ExAC
TOPMed
gnomAD
COSM1585245
COSM921643
rs767766247
46 R>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
TOPMed
gnomAD
rs752895021 47 S>R No ExAC
TOPMed
gnomAD
rs200054827 49 E>D No 1000Genomes
ExAC
gnomAD
TCGA novel 49 E>G Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1308915483 50 T>I No gnomAD
COSM1349897
COSM5163755
COSM1349898
51 S>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs372251905 52 H>L No ESP
ExAC
gnomAD
rs372251905 52 H>R No ESP
ExAC
gnomAD
rs2061550103 52 H>Y No Ensembl
rs1483493650 53 T>A No TOPMed
gnomAD
rs1212739268 54 I>V No TOPMed
gnomAD
rs373593384 55 S>L No ESP
ExAC
TOPMed
gnomAD
rs2134490508 56 Q>R No Ensembl
rs761575973 58 N>K No ExAC
TOPMed
gnomAD
rs2061550559 59 K>* No Ensembl
COSM921644
COSM1585244
61 K>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2061550685 64 P>S No TOPMed
rs771457628 65 S>P No ExAC
TOPMed
gnomAD
rs2061550828 67 S>G No gnomAD
rs2061550877 67 S>N No TOPMed
gnomAD
rs746652821 68 N>H No ExAC
gnomAD
rs983406494 68 N>S No TOPMed
gnomAD
rs746652821 68 N>Y No ExAC
gnomAD
rs2061551075 71 K>N No Ensembl
rs1374204447 72 I>S No gnomAD
rs2061551112 72 I>V No gnomAD
rs2061551225 74 S>L No Ensembl
rs2134491266 75 I>M No Ensembl
rs367762397 75 I>T No ESP
ExAC
TOPMed
gnomAD
rs61749238 76 A>G No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs368296510 77 R>K No ESP
ExAC
TOPMed
gnomAD
rs2061551507 78 E>G No TOPMed
rs1456154904 81 V>G No TOPMed
gnomAD
rs372609071 82 S>N No ESP
ExAC
TOPMed
gnomAD
rs2061551713 82 S>R No TOPMed
rs375835173 83 D>E No ESP
ExAC
TOPMed
gnomAD
rs1236231628 83 D>Y No gnomAD
rs267602624 84 E>D No gnomAD
rs1589883073 84 E>K No Ensembl
rs1485318519 86 S>N No gnomAD
rs2061552015 86 S>R No TOPMed
gnomAD
rs756966446 88 E>G No ExAC
TOPMed
gnomAD
COSM5543309
COSM5543310
COSM5543311
88 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
TCGA novel 89 K>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs750829654 90 C>F No ExAC
TOPMed
gnomAD
rs750829654 90 C>Y No ExAC
TOPMed
gnomAD
rs2134492124 91 W>C No Ensembl
rs2134492096 91 W>R No Ensembl
rs1486921056 92 E>K No gnomAD
TCGA novel 93 K>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs750310703 94 I>S No ExAC
gnomAD
rs779712636 95 M>L No ExAC
TOPMed
gnomAD
rs779712636 95 M>V No ExAC
TOPMed
gnomAD
rs1564634630 97 D>H No gnomAD
COSM3441750
COSM3441751
97 D>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs780949804 100 K>Q No ExAC
gnomAD
rs1024101614 101 N>K No TOPMed
gnomAD
COSM3441752
COSM3441753
102 L>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1449382962 103 N>T No TOPMed
gnomAD
COSM921645
COSM1585243
108 N>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs771177637 109 I>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
gnomAD
rs771177637 109 I>V No ExAC
gnomAD
rs2061553228 110 L>V No TOPMed
COSM5826851
COSM1349902
COSM1349901
111 R>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs774981225 111 R>T No ExAC
gnomAD
rs2061553336 113 H>N No Ensembl
rs2061553393 114 Q>H No Ensembl
rs759958187 115 H>P No ExAC
TOPMed
gnomAD
rs759958187 115 H>R No ExAC
TOPMed
gnomAD
COSM6067217
COSM6067218
COSM6067216
119 Q>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1355131868 119 Q>P No TOPMed
gnomAD
TCGA novel 120 R>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1240154880 121 Q>K No TOPMed
gnomAD
rs1442592804 123 Y>* No TOPMed
gnomAD
COSM5837484
COSM5837483
COSM5837485
124 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1224113478 125 M>I No gnomAD
rs2061554049 125 M>L No Ensembl
rs967633416 125 M>T No TOPMed
gnomAD
rs1286274921 126 Y>H No gnomAD
rs1213773441 129 V>I No TOPMed
gnomAD
rs1213773441 129 V>L No TOPMed
gnomAD
COSM1317414
COSM1317413
130 A>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs764335423 130 A>T No ExAC
gnomAD
rs2061554485 131 E>D No TOPMed
gnomAD
TCGA novel 133 D>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1195774926 133 D>V No gnomAD
rs753979956 133 D>Y No ExAC
TOPMed
gnomAD
rs1251371175 134 L>F No gnomAD
COSM3868092
COSM3868091
rs2061554785
141 P>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
TOPMed
COSM5371330
COSM5371331
COSM5371329
141 P>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1044573434 142 S>P No Ensembl
rs1169144353 143 P>L No TOPMed
TCGA novel 143 P>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1564634768 144 L>V No Ensembl
rs761721376 145 E>G No ExAC
gnomAD
rs906066688 145 E>K No TOPMed
gnomAD
rs977110384 146 R>G No TOPMed
gnomAD
rs758420946 147 K>N No ExAC
TOPMed
gnomAD
RCV002224953
rs573360290
147 K>R No ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
rs182480150 148 V>M No 1000Genomes
ExAC
gnomAD
COSM3441754
COSM3441755
149 F>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs751143974 150 P>L No ExAC
TOPMed
gnomAD
rs867577134 150 P>S No TOPMed
gnomAD
rs2061555825
COSM3441756
COSM3441757
151 G>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
TOPMed
gnomAD
rs886047494 153 Q>H No TOPMed
gnomAD
rs1442664929 153 Q>P No gnomAD
COSM3441758
COSM3441759
rs1281031440
COSM5604514
155 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
TOPMed
gnomAD
rs1283949487 156 L>V No TOPMed
gnomAD
rs754506421 157 D>E No ExAC
gnomAD
rs2061556622 157 D>N No gnomAD
COSM3441760
COSM3441761
158 R>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1028185313 158 R>S No Ensembl
rs1342740388 159 P>L No TOPMed
gnomAD
rs780946460 159 P>S No ExAC
TOPMed
gnomAD
rs780946460 159 P>T No ExAC
TOPMed
gnomAD
TCGA novel 161 M>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs2061557028 161 M>V No TOPMed
gnomAD
rs1215621414 164 S>C No gnomAD
rs1271524140 164 S>N No gnomAD
rs1451187790 164 S>R No TOPMed
gnomAD
rs373678903 165 P>S No ESP
ExAC
TOPMed
gnomAD
rs746187420 166 L>S No ExAC
TOPMed
gnomAD
COSM5592567
COSM3441762
COSM3441763
167 G>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM3441764
COSM3441765
COSM5371335
169 Q>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1589883602 169 Q>R No Ensembl
rs2061557538 170 S>T No gnomAD
rs2134495095 171 V>A No Ensembl
rs1468907560 171 V>M No TOPMed
gnomAD
rs531313054 173 I>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No 1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs775939596 173 I>V No ExAC
TOPMed
gnomAD
rs768703688 175 T>A No ExAC
gnomAD
rs2061557938 175 T>R No TOPMed
rs1440257014 176 G>S No TOPMed
gnomAD
rs1410133165 177 R>G No gnomAD
rs771355101 179 H>Q No ExAC
TOPMed
gnomAD
rs2061558202 180 P>T No Ensembl
rs1018870505 181 D>E No TOPMed
gnomAD
rs761942331 181 D>G No ExAC
TOPMed
gnomAD
rs1488040207 182 S>N No TOPMed
rs2134495528 182 S>R No Ensembl
rs765438751 182 S>R No ExAC
gnomAD
rs1589883724 183 R>T No Ensembl
rs772902065 184 R>G No ExAC
TOPMed
gnomAD
rs2061558488 184 R>K No TOPMed
gnomAD
rs1393379998 185 A>P No gnomAD
COSM4715055
COSM4715056
COSM4715054
186 V>A Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
TCGA novel 186 V>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1291472151 187 F>Y No gnomAD
rs866228865 188 H>N No Ensembl
rs1355943464 188 H>R No gnomAD
rs866228865 188 H>Y No Ensembl
rs2061558820 190 H>L No Ensembl
rs762794649 190 H>Y No ExAC
gnomAD
COSM4552893
COSM4552894
192 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs377113732 193 V>A No 1000Genomes
ExAC
TOPMed
gnomAD
rs1434221808 193 V>I No TOPMed
gnomAD
rs2134496222 194 D>G No Ensembl
rs1204808932 195 R>G No gnomAD
rs751519901 195 R>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
gnomAD
COSM3397317
rs752185437
COSM3397316
197 M>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
gnomAD
rs1185188574 197 M>L No TOPMed
gnomAD
rs766931943 197 M>T No ExAC
gnomAD
rs1185188574 197 M>V No TOPMed
gnomAD
rs755737422 198 S>L No ExAC
gnomAD
rs977033893 199 D>N No Ensembl
RCV000712696
rs777436865
200 T>I No ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs746265623 201 F>L No ExAC
gnomAD
rs1313196238 202 C>Y No TOPMed
gnomAD
rs1328605372 204 L>V No TOPMed
gnomAD
rs758734605 205 S>P No ExAC
gnomAD
rs1228245583 211 D>G No gnomAD
rs1339992165 211 D>H No gnomAD
rs1228245583 211 D>V No gnomAD
rs776583769 212 D>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs1228165244 213 C>Y No gnomAD
TCGA novel 214 G>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs752701924 216 C>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs752701924 216 C>Y No ExAC
TOPMed
gnomAD
rs1209405400 217 V>L No TOPMed
gnomAD
rs2061560822 220 P>H No TOPMed
rs1034390108 220 P>S No TOPMed
gnomAD
rs1477441868 221 G>R No TOPMed
rs1194626059 222 G>D No gnomAD
rs373215088 222 G>S No 1000Genomes
ExAC
TOPMed
gnomAD
rs1194626059 222 G>V No gnomAD
COSM6130808
COSM6130809
COSM6130807
223 E>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2061561153 224 E>V No Ensembl
rs1174053364 226 Q>P No gnomAD
COSM3415369
COSM5825666
rs894468303
COSM3415370
227 K>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
TOPMed
rs1487629775 228 K>* No TOPMed
gnomAD
rs916881442 229 N>H No Ensembl
rs2061561622 229 N>S No TOPMed
rs376748611 230 Y>C No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs376748611
COSM3441772
COSM3441771
230 Y>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1589884080 230 Y>H No Ensembl
rs767432281 232 A>E No ExAC
gnomAD
rs1171999183 232 A>T No gnomAD
rs949698821 234 T>I No TOPMed
rs949698821 234 T>N No TOPMed
rs1324928667 235 C>S No gnomAD
rs1256537854 237 L>R No TOPMed
rs755612271 237 L>V No ExAC
TOPMed
gnomAD
rs758824388 239 E>D No ExAC
gnomAD
TCGA novel 239 E>G Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs753470093 239 E>K No ExAC
gnomAD
rs780397243 240 L>M No ExAC
gnomAD
rs777822074 241 A>T No ExAC
TOPMed
gnomAD
rs371380798 243 N>D No Ensembl
rs1351944452 243 N>S No gnomAD
rs1206410558 244 C>F No gnomAD
rs1206410558 244 C>Y No gnomAD
rs2061563389 245 D>G No Ensembl
rs1281464900 246 N>Y No gnomAD
rs1295681966 248 N>D No TOPMed
rs1464034304 249 E>K No TOPMed
gnomAD
rs2061563806 249 E>V No Ensembl
rs1193922904 250 Q>* No gnomAD
rs2061563948 250 Q>R No TOPMed
gnomAD
TCGA novel 251 L>P Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
COSM1349904
COSM1349903
rs1589884285
COSM5100917
252 Q>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
Ensembl
rs1292650860 252 Q>P No TOPMed
gnomAD
rs200257502 253 C>R No Ensembl
rs2061564373 255 H>L No TOPMed
rs2061564373 255 H>R No TOPMed
RCV001985468
rs61749240
255 H>Y No ClinVar
TOPMed
dbSNP
gnomAD
COSM3441774
rs1199755219
COSM3441773
258 T>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
TOPMed
gnomAD
rs1474556107 259 L>M No TOPMed
gnomAD
rs1364338965 259 L>W No gnomAD
rs769894431 260 N>S No ExAC
gnomAD
rs374561180 267 E>* No ESP
ExAC
TOPMed
gnomAD
rs374561180 267 E>Q No ESP
ExAC
TOPMed
gnomAD
rs2061565268 268 G>A No gnomAD
rs1431581516 268 G>S No TOPMed
gnomAD
rs2061565268 268 G>V No gnomAD
COSM3441775
COSM3441776
rs1424514797
269 S>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
TOPMed
rs187112223 270 C>Y No 1000Genomes
ExAC
TOPMed
gnomAD
rs774301672 271 E>* No ExAC
TOPMed
gnomAD
rs774301672 271 E>K No ExAC
TOPMed
gnomAD
rs1439165211 272 K>E No gnomAD
rs771936307 274 D>E No ExAC
gnomAD
rs2061565766 274 D>Y No TOPMed
gnomAD
rs201683279 275 M>L No ExAC
TOPMed
gnomAD
rs201683279 275 M>V No ExAC
TOPMed
gnomAD
rs1278265755 276 V>A No gnomAD
TCGA novel 276 V>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs2061565917 276 V>L No Ensembl
rs2134500079 278 S>A No Ensembl
rs2134500124 279 G>D No Ensembl
rs1213761389 280 D>G No gnomAD
rs1466826254 281 S>I No gnomAD
rs1209041837 281 S>R No TOPMed
gnomAD
rs764817889 284 R>K No ExAC
gnomAD
rs751950223 285 K>E No ExAC
TOPMed
gnomAD
rs755337510 285 K>I No ExAC
gnomAD
COSM3868095
COSM3868096
286 D>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs781597048 289 D>N No ExAC
gnomAD
rs370227059 292 A>P No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs370227059 292 A>S No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs370227059 292 A>T No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1309970660 292 A>V No TOPMed
gnomAD
rs192084195 293 A>S No 1000Genomes
ExAC
TOPMed
gnomAD
rs749260720 295 T>A No ExAC
TOPMed
gnomAD
rs749324639 295 T>I No ExAC
gnomAD
rs749324639 295 T>N No ExAC
gnomAD
rs2061566612 296 F>V No Ensembl
COSM3441780
COSM3441779
297 L>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs771301576 297 L>V No ExAC
gnomAD
rs1397712129 298 S>N No gnomAD
rs957152318 299 H>R No TOPMed
gnomAD
rs1564635702 300 F>S No Ensembl
rs745692327 302 D>G No ExAC
TOPMed
gnomAD
rs773458204 302 D>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs771881470 303 F>L No ExAC
gnomAD
rs760662146 304 P>H No ExAC
gnomAD
rs1332419858 305 D>E No TOPMed
gnomAD
rs577869012 305 D>G No 1000Genomes
ExAC
TOPMed
gnomAD
rs577869012 305 D>V No 1000Genomes
ExAC
TOPMed
gnomAD
rs2061567177 306 N>D No TOPMed
rs768558197 306 N>K No TOPMed
gnomAD
COSM5826852
COSM1349912
COSM1349911
306 N>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM466110
rs773934458
308 D>G Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
TOPMed
gnomAD
rs761269172 309 D>G No ExAC
TOPMed
gnomAD
rs761269172 309 D>V No ExAC
TOPMed
gnomAD
rs1464464324 309 D>Y No TOPMed
rs750053159 310 V>A No ExAC
gnomAD
TCGA novel 312 E>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs1250994151 312 E>G No gnomAD
rs534230873 313 D>E No 1000Genomes
ExAC
gnomAD
rs1485935185 313 D>G No TOPMed
gnomAD
COSM4926312
COSM4926310
COSM4926311
313 D>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM1349914
COSM1349913
COSM5129326
rs201003341
314 A>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
COSM3441783
COSM3441784
314 A>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs752937283 316 K>E No ExAC
gnomAD
COSM921646
COSM1585242
316 K>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs886047498 317 S>I No TOPMed
gnomAD
rs2061567932 318 K>E No TOPMed
rs573916830 319 K>N No 1000Genomes
ExAC
TOPMed
gnomAD
rs17109674 320 E>D No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs201512392 321 R>P No ExAC
TOPMed
gnomAD
rs201512392 321 R>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs1394931862 323 T>A No gnomAD
rs1295865478 323 T>S No gnomAD
rs1308826821 324 L>M No gnomAD
rs1225942355 324 L>S No gnomAD
rs1273592559 327 R>K No gnomAD
TCGA novel 328 R>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1589884909 329 F>L No Ensembl
rs1212988900 330 C>R No TOPMed
gnomAD
COSM3358920
COSM3358919
335 E>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1483179479 337 K>E No TOPMed
rs2061568832 341 Y>C No TOPMed
rs1210892675 342 T>I No TOPMed
rs1283509106 345 R>G No Ensembl
rs1389986963 345 R>I No TOPMed
gnomAD
rs1389986963 345 R>K No TOPMed
gnomAD
rs368340608 345 R>S No ESP
ExAC
gnomAD
rs1389986963 345 R>T No TOPMed
gnomAD
rs1176141437 347 I>V No gnomAD
rs2061569275 349 R>K No gnomAD
rs1336181934 350 T>S No TOPMed
gnomAD
COSM686046
COSM1646369
351 L>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1056300115 352 P>L No TOPMed
gnomAD
rs544983455 353 S>T No 1000Genomes
ExAC
gnomAD
rs2061569453 354 G>C No gnomAD
rs2061569640 356 I>F No Ensembl
rs2061569735 356 I>T No Ensembl
rs2061569640 356 I>V No Ensembl
rs2134502948 357 G>W No Ensembl
rs894445177 358 L>P No TOPMed
rs2061570006 360 A>T No TOPMed
rs1432513098 360 A>V No gnomAD
rs201677757 361 W>* No TOPMed
rs201677757 361 W>L No TOPMed
rs762520036 362 S>N No ExAC
TOPMed
rs776042399 365 D>E No ExAC
gnomAD
rs903147027 365 D>V No TOPMed
gnomAD
rs955777589 366 Q>* No TOPMed
rs867011104 367 K>* No Ensembl
COSM686045
COSM1646368
367 K>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM6067212
COSM6067210
COSM6067211
367 K>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs771184962 368 R>S No Ensembl
rs2061570821 368 R>T No TOPMed
gnomAD
rs1185816545 370 G>C No TOPMed
gnomAD
rs764511730 370 G>D No ExAC
TOPMed
gnomAD
rs764511730 370 G>V No ExAC
TOPMed
gnomAD
rs867723144 371 P>A No TOPMed
gnomAD
rs371635786 371 P>L No ESP
ExAC
TOPMed
gnomAD
rs371635786 371 P>R No ESP
ExAC
TOPMed
gnomAD
COSM3441786
COSM3441785
371 P>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs867723144 371 P>T No TOPMed
gnomAD
rs199906617
COSM3868097
COSM3868098
374 P>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs780040765 377 R>K No ExAC
gnomAD
rs368745117 378 V>L No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs2061571853 379 M>V No TOPMed
rs1589885236 380 E>D No Ensembl
rs754933489 381 P>A No ExAC
TOPMed
gnomAD
rs780910033 381 P>H No ExAC
TOPMed
gnomAD
rs780910033 381 P>R No ExAC
TOPMed
gnomAD
rs754933489 381 P>S No ExAC
TOPMed
gnomAD
rs772683273 382 P>L No ExAC
TOPMed
gnomAD
rs202112015 383 S>P No 1000Genomes
ExAC
gnomAD
rs1394676351 384 T>I No TOPMed
gnomAD
rs1272805667 385 V>A No gnomAD
rs373211588 385 V>L No ESP
TOPMed
rs1366611890 386 E>* No gnomAD
rs1028504203 387 I>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
gnomAD
rs748941618 388 R>S No ExAC
gnomAD
rs770442535 390 D>N No ExAC
gnomAD
rs2061572910 392 S>T No gnomAD
rs2061573033 393 Q>* No Ensembl
rs760137530 394 R>H No ExAC
TOPMed
gnomAD
rs529894244 395 L>P No 1000Genomes
ExAC
TOPMed
gnomAD
rs374964859 396 S>L No ESP
ExAC
TOPMed
gnomAD
COSM3441787
COSM3441788
400 W>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1419025268 402 P>L No Ensembl
rs1421936530 403 I>M No TOPMed
rs989468480 403 I>V No gnomAD
rs2046617013 405 N>D No TOPMed
rs2046617097 405 N>K No gnomAD
rs531179968 407 V>M No 1000Genomes
ExAC
TOPMed
gnomAD
rs1270211318 409 R>I No TOPMed
gnomAD
rs1285859675 409 R>S No gnomAD
rs749717429 410 E>V No ExAC
gnomAD
TCGA novel 411 E>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs757784218 412 T>I No ExAC
TOPMed
gnomAD
rs757784218 412 T>K No ExAC
TOPMed
gnomAD
rs779188785 414 N>S No ExAC
TOPMed
rs977349780 415 T>I No TOPMed
gnomAD
rs746234814 415 T>P No ExAC
gnomAD
rs2046619145 416 V>A No TOPMed
gnomAD
rs1483973768 416 V>I No gnomAD
rs375770728 417 G>V No ESP
ExAC
TOPMed
gnomAD
rs768583952 418 S>A No ExAC
TOPMed
gnomAD
rs2135907716 419 L>V No Ensembl
rs776797451 420 L>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
gnomAD
rs761601311 420 L>R No ExAC
gnomAD
rs769861376 423 L>F No ExAC
TOPMed
gnomAD
rs769861376 423 L>I No ExAC
TOPMed
gnomAD
rs1371745054 424 T>A No gnomAD
rs757833114 424 T>N No ExAC
TOPMed
gnomAD
TCGA novel 425 K>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1306689063 426 L>F No gnomAD
rs762830348 428 A>G No ExAC
TOPMed
gnomAD
rs762830348 428 A>V No ExAC
TOPMed
gnomAD
rs2046620578 429 S>P No Ensembl
rs2135908196 430 E>G No Ensembl
rs759264866
COSM3981205
430 E>K ovary [Cosmic] No cosmic curated
ExAC
gnomAD
rs200380935
RCV002244601
432 A>G No ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs200380935 432 A>V No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs2046621411 433 H>Q No TOPMed
rs2135908297 433 H>R No Ensembl
rs1344014759 436 I>K No gnomAD
rs757692426 437 S>N No ExAC
gnomAD
COSM5461109
COSM5461111
COSM5461110
COSM5461112
rs1482772158
438 V>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
gnomAD
COSM686044
COSM1646367
COSM1146514
439 G>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1422242968 439 G>D No gnomAD
rs201727715 439 G>R No TOPMed
gnomAD
rs201727715 439 G>S No TOPMed
gnomAD
TCGA novel 440 P>A Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1391218575 441 C>F No gnomAD
rs2046622845 441 C>R No gnomAD
COSM3441793
COSM3441792
COSM3441794
441 C>W Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1431996947 443 K>N No gnomAD
rs1167331937 444 Q>K No gnomAD
rs369517030 444 Q>P No ESP
ExAC
TOPMed
gnomAD
rs187314834 446 V>D No 1000Genomes
RCV001896130
rs781068774
447 R>* No ClinVar
ExAC
dbSNP
gnomAD
rs140876132 447 R>L No 1000Genomes
ExAC
gnomAD
rs140876132 447 R>P No 1000Genomes
ExAC
gnomAD
rs140876132 447 R>Q No 1000Genomes
ExAC
gnomAD
rs770058603 448 D>N No ExAC
TOPMed
gnomAD
rs773262919 449 T>I No ExAC
gnomAD
rs116996657 450 V>A No 1000Genomes
ExAC
gnomAD
rs2046624714 451 C>R No gnomAD
rs1312653010 452 E>A No TOPMed
gnomAD
rs1312653010 452 E>G No TOPMed
gnomAD
rs2046625103 453 Y>H No TOPMed
gnomAD
rs759052382 454 R>C No ExAC
TOPMed
gnomAD
rs796709138 454 R>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
gnomAD
rs752358441 455 A>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs1421030425 456 T>N No gnomAD
rs1173503822 459 R>K No gnomAD
rs1590089276 460 T>I No Ensembl
rs945128964 461 S>L No TOPMed
rs760161309 462 I>M No ExAC
gnomAD
rs1263170493 462 I>T No TOPMed
gnomAD
rs2046626116 462 I>V No TOPMed
rs763640206
COSM1646366
COSM1146515
COSM686043
463 S>L lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] No NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs1187018122 463 S>P No TOPMed
gnomAD
rs1306287584 464 Q>P No TOPMed
gnomAD
rs569393306 465 Y>S No 1000Genomes
ExAC
gnomAD
rs2046627483 466 I>T No Ensembl
rs1465104605 466 I>V No gnomAD
rs1452138098 468 G>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
rs903544158 468 G>S No TOPMed
gnomAD
rs17508082 469 S>P No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSM3441797
COSM3441796
COSM3441795
470 L>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs980321568 470 L>I No Ensembl
rs575908537 471 L>I No ExAC
TOPMed
gnomAD
rs748431259 471 L>Q No ExAC
gnomAD
rs371884091 473 A>G No TOPMed
gnomAD
rs1299085187 473 A>T No gnomAD
rs371884091 473 A>V No TOPMed
gnomAD
rs200830976 474 T>A Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
gnomAD
rs886047499 474 T>N No gnomAD
rs769965610 475 T>K No ExAC
TOPMed
gnomAD
rs769965610 475 T>M No ExAC
TOPMed
gnomAD
rs749189889 476 S>T No ExAC
gnomAD
rs1412024507 479 A>T No TOPMed
rs2046629622 482 G>D No TOPMed
rs2046629544 482 G>S No TOPMed
rs376905496 483 L>F No ESP
ExAC
TOPMed
gnomAD
rs2046629807 484 L>R No TOPMed
rs2046629894 485 S>C No Ensembl
rs773950474 486 T>I No ExAC
gnomAD
rs1489004720
COSM1139525
487 F>L lung [Cosmic] No cosmic curated
gnomAD
rs940715174 488 G>R No Ensembl
rs951540403 489 G>A No TOPMed
rs377605811 489 G>R No ESP
ExAC
TOPMed
gnomAD
TCGA novel 489 G>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs760357464 490 S>P No ExAC
TOPMed
gnomAD
rs901826866 492 G>R No Ensembl
rs763387612 493 R>Q No ExAC
gnomAD
rs1249996267 495 M>I No gnomAD
rs766906990 495 M>R No ExAC
gnomAD
rs2046631636 497 K>R No TOPMed
rs1404447144 498 E>Q No gnomAD
rs61751493 499 R>S No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1331936652 500 Q>* No gnomAD
rs2047963296 500 Q>H No TOPMed
rs1237728742 501 P>A No gnomAD
rs371545313 501 P>L No ESP
ExAC
gnomAD
rs1237728742 501 P>T No gnomAD
rs927084372 502 G>A No gnomAD
rs927084372 502 G>D No gnomAD
rs200875238 502 G>S No 1000Genomes
ExAC
TOPMed
gnomAD
rs181228584 503 P>L No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs746806934 504 S>F No ExAC
gnomAD
rs780803829 505 V>L No ExAC
TOPMed
gnomAD
COSM1152213 505 V>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2047964359 506 A>T No gnomAD
rs766326899 507 N>D No ExAC
gnomAD
rs766326899 507 N>H No ExAC
gnomAD
rs1590176627 507 N>S No Ensembl
rs1590176627 507 N>T No Ensembl
rs998892346 508 S>A No Ensembl
rs769308791 508 S>Y No ExAC
gnomAD
rs1159752358 509 N>K No TOPMed
gnomAD
rs1473457358 510 A>V No gnomAD
rs772621903 511 L>F No ExAC
gnomAD
rs1382585182 512 P>L No TOPMed
gnomAD
rs2047964962 512 P>T No Ensembl
TCGA novel 513 S>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs2047965270
TCGA novel
513 S>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
rs2047965527 514 S>N No Ensembl
rs2047965698 515 S>L No Ensembl
rs1300461089 516 A>S No gnomAD
rs375109167 519 S>G No ESP
TOPMed
COSM6067202
COSM6067200
COSM6067199
COSM6067201
520 K>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs945679453 522 L>M No TOPMed
gnomAD
rs2047966560 523 I>M No 1000Genomes
TOPMed
gnomAD
COSM198849
rs761107139
COSM5117632
COSM5117630
COSM5117631
524 D>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
TOPMed
gnomAD
rs761107139 524 D>Y No ExAC
TOPMed
gnomAD
rs764601690
COSM6130803
COSM1506413
COSM6130806
COSM6130805
COSM6130804
526 Q>H lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] No cosmic curated
ExAC
gnomAD
NCI-TCGA Cosmic
rs377031690 527 P>H No ESP
ExAC
TOPMed
gnomAD
rs377031690 527 P>R No ESP
ExAC
TOPMed
gnomAD
rs761968908 529 I>T No ExAC
TOPMed
gnomAD
rs1449861664 530 Q>* No gnomAD
rs1415198205 530 Q>R No Ensembl
rs556484452 532 P>S No 1000Genomes
ExAC
TOPMed
gnomAD
COSM4573914
rs1426033120
COSM4573913
COSM4573912
536 A>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
gnomAD
rs1014453435 537 S>I No 1000Genomes
TOPMed
rs1014453435 537 S>N No 1000Genomes
TOPMed
rs1023103811 538 I>M No TOPMed
rs1416236768 538 I>N No TOPMed
gnomAD
rs754740363 542 Q>H No ExAC
TOPMed
rs2047968511 543 E>G No TOPMed
gnomAD
rs1436302444 544 Q>R No gnomAD
rs780996293 546 I>V No ExAC
TOPMed
gnomAD
rs17417407 548 R>H No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs770620916 550 V>A No ExAC
TOPMed
gnomAD
rs377400616 550 V>I No ESP
TOPMed
rs559300385 551 L>F No 1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 552 P>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs370540250 553 V>I No 1000Genomes
ESP
ExAC
gnomAD
rs781026952 554 D>N No ExAC
TOPMed
gnomAD
COSM3441802
COSM3441803
COSM5837486
rs541692822
COSM3441801
556 L>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
COSM1349916
COSM1349918
COSM1349917
COSM5131287
556 L>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs541692822 556 L>V No 1000Genomes
ExAC
TOPMed
gnomAD
rs765379329 557 C>F No ExAC
gnomAD
rs750719125 559 L>F No ExAC
gnomAD
rs763000355 560 T>A No ExAC
gnomAD
rs2047970494 560 T>I No TOPMed
rs375307339 561 R>Q No ESP
ExAC
TOPMed
gnomAD
COSM1349920
rs186743876
561 R>W large_intestine [Cosmic] No cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
COSM3441805
COSM3441804
COSM3441806
562 D>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1381945637 563 L>S No gnomAD
COSM6067196
COSM6067197
COSM343911
COSM6067198
564 G>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs754931497 564 G>V No ExAC
TOPMed
gnomAD
rs557560167 565 T>A Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
gnomAD
rs1433716770 565 T>I No gnomAD
rs1433716770 565 T>N No gnomAD
rs557560167 565 T>S No ExAC
gnomAD
rs1564753542 566 P>L No TOPMed
TCGA novel 569 Q>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs749018318 572 L>F No ExAC
rs1590177206 572 L>W No TOPMed
rs1323830446 573 P>L No Ensembl
rs1291594905 574 C>S No TOPMed
rs1225640410 575 L>R No TOPMed
gnomAD
rs756796071 575 L>V No ExAC
gnomAD
rs778594716 576 K>E No ExAC
gnomAD
rs141639885 577 A>S No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs934381964 578 S>A No Ensembl
rs2047972927 579 I>T No Ensembl
rs368809484 579 I>V No ESP
ExAC
TOPMed
gnomAD
rs895454088 580 S>A No Ensembl
rs11596200 581 A>T No Ensembl
rs1472959016 581 A>V No gnomAD
rs748451084 582 S>L No ExAC
gnomAD
COSM1317408
COSM1317409
COSM1317410
584 L>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1292831482 585 T>A No Ensembl
rs763196962 585 T>N No ExAC
gnomAD
rs1393290706 586 T>I No gnomAD
rs1393290706 586 T>N No gnomAD
rs1423348072 588 N>D No gnomAD
rs766398340 588 N>K No ExAC
TOPMed
gnomAD
rs1164122278 589 G>E No gnomAD
rs2047974886 590 E>G No Ensembl
rs906050136 591 H>Y No TOPMed
rs2047975328 592 N>S No Ensembl
rs2047975245 592 N>Y No Ensembl
rs2047975409 593 A>V No Ensembl
rs774429019 594 L>H No ExAC
gnomAD
rs1350645474 594 L>I No gnomAD
rs774429019 594 L>P No ExAC
gnomAD
rs866437239 595 E>K No Ensembl
rs767353083 596 D>E No ExAC
TOPMed
gnomAD
rs755841557 598 V>M No ExAC
TOPMed
gnomAD
rs1296578588 599 M>I No gnomAD
rs763989985 599 M>V No 1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 600 R>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs2047976698 600 R>W No TOPMed
rs2047976871 601 F>L No TOPMed
rs61751495 602 N>D No ESP
ExAC
TOPMed
gnomAD
rs61751495 602 N>H No ESP
ExAC
TOPMed
gnomAD
rs554159388 603 E>* No 1000Genomes
ExAC
TOPMed
gnomAD
COSM1646365
COSM686042
COSM1146516
603 E>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs554159388 603 E>Q No 1000Genomes
ExAC
TOPMed
gnomAD
rs2047977233 603 E>V No TOPMed
rs778281055 604 V>M No TOPMed
gnomAD
rs2049980213 607 W>* No TOPMed
rs979353907 607 W>* No Ensembl
rs756658359 609 T>I No ExAC
gnomAD
rs749650847 610 W>* No ExAC
gnomAD
rs1294764092 610 W>R No gnomAD
COSM1585239
COSM921648
COSM1585238
611 L>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1208771113 613 L>F No TOPMed
gnomAD
rs1485655194 613 L>P No TOPMed
gnomAD
rs752386035 614 T>M No TOPMed
gnomAD
rs2049981312 616 G>R No TOPMed
rs2049981711 618 M>I No Ensembl
rs200180170 618 M>L No ESP
ExAC
TOPMed
gnomAD
rs746126689 618 M>T No ExAC
gnomAD
rs200180170 618 M>V No ESP
ExAC
TOPMed
gnomAD
rs1589381574 619 E>G No Ensembl
rs1589381584 620 E>G No Ensembl
rs778222582 620 E>K No ExAC
gnomAD
rs775660349 621 K>E No ExAC
gnomAD
rs1564806961 622 R>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No Ensembl
NCI-TCGA
rs376708637 622 R>Q No ESP
ExAC
TOPMed
gnomAD
rs1471710477 623 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
gnomAD
rs1589381624 624 V>G No Ensembl
rs768638774 627 Y>H No ExAC
gnomAD
rs776774194 628 L>F No ExAC
gnomAD
rs1589381648 628 L>S No Ensembl
TCGA novel 630 H>Q Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs761685163 630 H>R No ExAC
gnomAD
TCGA novel 630 H>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs765167668 632 A>S No ExAC
TOPMed
gnomAD
rs765167668 632 A>T No ExAC
TOPMed
gnomAD
rs2049983582 633 K>E No TOPMed
TCGA novel 633 K>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs750064042 634 C>Y No ExAC
gnomAD
rs1288229733 636 W>G No gnomAD
rs369780470 638 M>K No ESP
ExAC
TOPMed
gnomAD
rs1162562876 639 G>D No TOPMed
gnomAD
rs765752967 639 G>S No ExAC
gnomAD
rs1285314783 640 N>D No gnomAD
rs1321467584 640 N>S No gnomAD
rs1223188527 641 Y>* No gnomAD
COSM3441810
COSM3441811
COSM3441812
645 M>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
TCGA novel
rs2049984813
645 M>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
rs1158028629 646 E>Q No TOPMed
rs754390309 647 F>L No ExAC
gnomAD
rs867638196 647 F>L No gnomAD
rs368943095 647 F>S No ESP
ExAC
gnomAD
rs779280589 649 A>S No ExAC
gnomAD
rs2049985812 651 L>F No TOPMed
COSM5212620
COSM1474881
COSM1474879
COSM1474880
652 R>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2050235161 653 S>P No Ensembl
COSM1585235
COSM921651
COSM1585234
654 R>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs771164731 655 K>E No Ensembl
rs1049081999 655 K>R No TOPMed
gnomAD
rs1049081999 655 K>T No TOPMed
gnomAD
rs1475640405 656 V>F No TOPMed
gnomAD
rs1475640405 656 V>L No TOPMed
gnomAD
rs1259909740 657 L>* No Ensembl
rs776791387 657 L>F No TOPMed
gnomAD
TCGA novel 658 K>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs2050235876 659 M>I No TOPMed
gnomAD
rs200246546 662 F>C No TOPMed
COSM6067193
COSM6067194
COSM6067195
COSM6067192
662 F>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs200246546 662 F>S No TOPMed
rs755071593 665 Q>* No ExAC
gnomAD
rs781446502 665 Q>H No ExAC
TOPMed
gnomAD
rs1205637132 665 Q>P No TOPMed
gnomAD
rs367656255 666 S>F No ESP
ExAC
TOPMed
gnomAD
rs1313577956 670 T>I No TOPMed
gnomAD
rs1313577956 670 T>N No TOPMed
gnomAD
rs2050236802 670 T>P No Ensembl
rs1313577956 670 T>S No TOPMed
gnomAD
rs1229744391 671 M>I No TOPMed
gnomAD
rs1359294597 671 M>L No gnomAD
rs2050237216 671 M>T No TOPMed
rs2050237389 672 R>K No TOPMed
gnomAD
TCGA novel 672 R>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs773350820 673 S>I No ExAC
TOPMed
gnomAD
rs773350820 673 S>N No ExAC
TOPMed
gnomAD
rs370241315 673 S>R No ESP
ExAC
TOPMed
gnomAD
COSM1585232
COSM1585233
COSM921652
676 D>G Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1237624507 677 A>T No TOPMed
gnomAD
rs2050237912 677 A>V No Ensembl
rs1181484025 678 M>I No gnomAD
rs201422605 678 M>L No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1030969242 679 A>T No TOPMed
rs2050238409 680 Q>H No gnomAD
rs770083822 681 H>R No ExAC
TOPMed
gnomAD
COSM3415371
COSM5079183
COSM3415372
COSM3415373
681 H>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1216844157 682 E>A No gnomAD
rs1216844157 682 E>V No gnomAD
rs1170403037 683 S>F No TOPMed
gnomAD
rs2050238839 683 S>T No gnomAD
rs2050239028 684 S>F No Ensembl
rs1462050295 685 C>S No TOPMed
gnomAD
rs2050239326 685 C>W No gnomAD
rs1462050295 685 C>Y No TOPMed
gnomAD
COSM1152215 686 E>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1297291863 689 K>N No Ensembl
rs12768416 690 V>A No Ensembl
rs12768416 690 V>G No Ensembl
rs1408215263 691 V>A No TOPMed
gnomAD
rs750947203 692 T>I No ExAC
TOPMed
gnomAD
rs750947203 692 T>R No ExAC
TOPMed
gnomAD
COSM1349923
COSM1349922
COSM5140960
COSM1349924
692 T>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs766687684 693 R>C No ExAC
TOPMed
gnomAD
COSM1349926
rs866040967
COSM352323
COSM1349925
COSM5089719
693 R>H Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs375465343 696 H>L No ESP
ExAC
gnomAD
TCGA novel 698 P>A Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs2050240677 698 P>R No TOPMed
TCGA novel 698 P>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 699 G>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs755267829 700 C>Y No ExAC
gnomAD
rs781358365 702 V>A No ExAC
gnomAD
rs748234743 703 V>F No ExAC
TOPMed
gnomAD
rs2050241334 706 C>R No Ensembl
rs574681547 707 G>A No 1000Genomes
ExAC
TOPMed
gnomAD
rs749225777 708 V>A No ExAC
TOPMed
gnomAD
rs749225777 708 V>E No ExAC
TOPMed
gnomAD
rs1167364270 709 F>L No gnomAD
rs953269160 710 L>P No TOPMed
gnomAD
rs2050242046 711 K>R No TOPMed
gnomAD
rs2137295429 712 E>G No Ensembl
rs774037165 714 C>F No ExAC
TOPMed
gnomAD
rs2137295471 714 C>R No Ensembl
rs774037165 714 C>S No ExAC
TOPMed
gnomAD
rs1274580178 715 E>D No TOPMed
gnomAD
rs764624873 715 E>K No TOPMed
gnomAD
rs771716896 719 G>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs532351295
COSM1474883
720 A>T breast [Cosmic] No cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
COSM3441814
COSM3441813
COSM3441815
723 L>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs763394762 724 M>L No ExAC
TOPMed
gnomAD
rs140596357 724 M>T No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs763394762 724 M>V No ExAC
TOPMed
gnomAD
rs751878309 728 P>L No ExAC
TOPMed
gnomAD
rs767839016 729 R>L No ExAC
TOPMed
gnomAD
rs767839016 729 R>Q No ExAC
TOPMed
gnomAD
rs2050244014 729 R>W No TOPMed
gnomAD
rs969149092 731 N>D No TOPMed
gnomAD
COSM3441818
COSM3441816
COSM3441817
732 S>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs373425084 733 Q>R No ESP
ExAC
TOPMed
gnomAD
rs2050244914 735 E>A No Ensembl
rs777744481 735 E>D No ExAC
gnomAD
rs2050245093 736 T>I No TOPMed
rs2050245184 737 L>S No TOPMed
COSM6067191
COSM6067190
COSM6067188
COSM6067189
738 E>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1454663268 738 E>D No gnomAD
rs1428784948 738 E>K No gnomAD
rs944765770 740 V>L No TOPMed
gnomAD
rs11187829 742 D>Y No Ensembl
TCGA novel 743 Y>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs2050307344 744 S>I No TOPMed
rs1291205175 744 S>R No gnomAD
rs1480998769 745 G>E No gnomAD
rs1213897479 746 Q>E No TOPMed
rs753867049 746 Q>R No ExAC
gnomAD
rs1248624002 747 D>N No gnomAD
rs778698239 748 N>Y No ExAC
gnomAD
rs1589395609 749 F>L No Ensembl
rs1387431754 750 L>S No gnomAD
rs750405323
COSM1970368
752 R>* central_nervous_system [Cosmic] No cosmic curated
ExAC
TOPMed
gnomAD
COSM5837487
COSM5837490
COSM5837489
COSM5837488
752 R>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs758156206 752 R>Q No ExAC
TOPMed
gnomAD
rs777426672 753 V>M No TOPMed
gnomAD
rs2050309437 754 G>A No Ensembl
TCGA novel
rs746608788
754 G>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
ExAC
gnomAD
rs768199585 756 N>K No ExAC
gnomAD
rs1293747652 759 K>Q No Ensembl
rs1433151711 760 N>K No Ensembl
rs376554016 761 S>L No ESP
ExAC
TOPMed
gnomAD
rs769399012 762 E>D No ExAC
gnomAD
rs1395256114 762 E>K No gnomAD
rs1170242242 764 E>D No TOPMed
rs774971762 764 E>G No ExAC
gnomAD
rs1380292836 765 S>C No gnomAD
rs760154119 766 T>I No ExAC
TOPMed
gnomAD
rs772518223 767 V>A No ExAC
TOPMed
gnomAD
rs2137327219 767 V>I No Ensembl
rs760881877 768 N>T No ExAC
TOPMed
gnomAD
rs2137327391 769 S>T No Ensembl
rs764214312 770 I>T No ExAC
gnomAD
rs1245412653 775 R>Q No TOPMed
gnomAD
rs370127450 778 N>S No ESP
ExAC
TOPMed
gnomAD
rs750319129 779 R>P No ExAC
TOPMed
gnomAD
rs750319129 779 R>Q No ExAC
TOPMed
gnomAD
rs1589395804 780 S>I No Ensembl
rs758346786 782 E>D No ExAC
gnomAD
rs766097369 783 T>A No ExAC
gnomAD
rs1371978421 784 D>G No TOPMed
gnomAD
rs376994717 785 E>* No ESP
ExAC
TOPMed
gnomAD
rs376994717 785 E>K No ESP
ExAC
TOPMed
gnomAD
rs1469051094 786 E>D No gnomAD
rs1002583376 786 E>K No TOPMed
gnomAD
rs780690530 787 D>E No ExAC
gnomAD
rs747879044 788 S>G No ExAC
TOPMed
gnomAD
rs572497944 788 S>R No 1000Genomes
ExAC
TOPMed
gnomAD
rs201028754 789 P>A No 1000Genomes
gnomAD
rs2050313959 789 P>L No gnomAD
rs201028754 789 P>S No 1000Genomes
gnomAD
rs777451047 790 S>G No ExAC
gnomAD
rs1346509519 792 G>R No TOPMed
gnomAD
rs2050314589 793 N>K No TOPMed
rs2050314484 793 N>S No TOPMed
COSM4165588
rs2050314693
794 S>R kidney [Cosmic] No cosmic curated
Ensembl
rs2050314792 796 R>G No TOPMed
rs541915097 796 R>S No Ensembl
rs746317392 797 K>Q No ExAC
gnomAD
rs772708077 801 K>Q No ExAC
TOPMed
gnomAD
rs776201612 802 D>N No ExAC
TOPMed
gnomAD
rs1261856507 803 K>R No gnomAD
rs1564815734 804 S>R No Ensembl
rs757088793 805 R>L No ExAC
TOPMed
gnomAD
rs757088793 805 R>P No ExAC
TOPMed
gnomAD
COSM4899007
COSM4899008
rs757088793
COSM4899010
COSM4899009
805 R>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1297912148 806 W>R No TOPMed
gnomAD
rs780684028 807 Q>H No ExAC
gnomAD
rs762125266 807 Q>P No ExAC
TOPMed
gnomAD
TCGA novel 808 F>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
COSM1585230
COSM1585231
COSM921655
809 I>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs368230381 809 I>V No ESP
ExAC
gnomAD
rs1266118189 810 I>T No gnomAD
rs539472268 811 G>E No 1000Genomes
ExAC
gnomAD
rs2050663681 811 G>R No Ensembl
rs770001198 812 D>H No ExAC
TOPMed
gnomAD
rs770001198 812 D>Y No ExAC
TOPMed
gnomAD
rs1289346091 813 L>F No TOPMed
gnomAD
rs2050664204 815 D>E No Ensembl
rs2050664129 815 D>Y No Ensembl
rs762998243 817 D>N No ExAC
TOPMed
gnomAD
rs771042502 817 D>V No ExAC
TOPMed
gnomAD
COSM1646363
COSM1146518
COSM686040
818 N>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2050664772 819 D>N No Ensembl
rs1293673641 820 I>F No TOPMed
gnomAD
rs1293673641 820 I>V No TOPMed
gnomAD
rs2050665049 822 E>K No TOPMed
rs1341339587 824 S>A No TOPMed
gnomAD
rs759542875 827 Y>D No ExAC
TOPMed
gnomAD
rs759542875 827 Y>H No ExAC
TOPMed
gnomAD
rs752538893 828 D>N No ExAC
TOPMed
gnomAD
TCGA novel 830 H>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1322398478 830 H>R No TOPMed
gnomAD
rs1298895117 830 H>Y No TOPMed
gnomAD
rs760609959 831 G>R No ExAC
TOPMed
gnomAD
rs760609959 831 G>S No ExAC
TOPMed
gnomAD
rs1222377922 831 G>V No gnomAD
rs2050666368 833 E>Q No Ensembl
rs2050666527 834 D>H No TOPMed
rs2050666622 835 S>L No Ensembl
rs376083354 837 K>* No ESP
TOPMed
rs376083354 837 K>E No ESP
TOPMed
rs1386978841 837 K>N No TOPMed
gnomAD
rs2050667027 838 A>S No TOPMed
rs756796239 840 D>G No ExAC
gnomAD
rs200455333 840 D>N No ExAC
TOPMed
gnomAD
rs778596911 841 H>D No ExAC
gnomAD
rs751960203 841 H>P No ExAC
TOPMed
gnomAD
rs755520745 841 H>Q No ExAC
TOPMed
gnomAD
rs748533923 842 G>E No ExAC
TOPMed
gnomAD
rs770194045 843 T>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs1171042109 846 I>M No TOPMed
gnomAD
RCV001761136
rs2050668187
847 P>A No ClinVar
TOPMed
dbSNP
gnomAD
rs2050668279 848 W>C No TOPMed
gnomAD
rs201457945 850 V>M No ExAC
TOPMed
gnomAD
rs774506744 852 S>C No ExAC
gnomAD
rs774506744 852 S>Y No ExAC
gnomAD
rs200483837 853 I>F No 1000Genomes
ExAC
TOPMed
gnomAD
COSM3985822
COSM3985820
COSM3985821
853 I>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs772039022 855 A>T No ExAC
TOPMed
gnomAD
rs775344140 855 A>V No ExAC
gnomAD
rs1313467465 856 D>E No gnomAD
COSM6037354
COSM6037356
COSM6037357
rs764021031
COSM6037355
856 D>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
TOPMed
gnomAD
rs764021031 856 D>Y No ExAC
TOPMed
gnomAD
rs764592323 857 V>G No ExAC
rs761578986 857 V>M No ExAC
gnomAD
rs536046544 858 H>Q No 1000Genomes
ExAC
gnomAD
rs2050669751 858 H>R No Ensembl
rs1589412559 859 Q>E No Ensembl
rs1274712375 863 Q>* No gnomAD
rs1038818069 863 Q>H No Ensembl
rs781709034 864 G>E No ExAC
gnomAD
rs757905871 864 G>R No ExAC
gnomAD
rs191731938 865 A>S No 1000Genomes
ExAC
gnomAD
rs191731938 865 A>T No 1000Genomes
ExAC
gnomAD
rs575911826 865 A>V No 1000Genomes
ExAC
gnomAD
rs749456827 866 T>M No ExAC
TOPMed
gnomAD
rs745944178 869 H>Q No ExAC
gnomAD
COSM1220932
rs772089398
871 D>N large_intestine [Cosmic] No cosmic curated
ExAC
TOPMed
gnomAD
rs950362451 871 D>V No TOPMed
rs2050671324 872 Q>R No TOPMed
rs1342856003 874 T>R No TOPMed
gnomAD
rs1273728936 875 H>Y No Ensembl
rs2050671762 877 S>F No Ensembl
rs746973887 878 A>V No ExAC
gnomAD
rs374847453 879 R>H No ESP
ExAC
TOPMed
gnomAD
rs1346951131 880 C>R No TOPMed
gnomAD
rs199588346 881 F>C No ExAC
TOPMed
gnomAD
rs199588346 881 F>S No ExAC
TOPMed
gnomAD
rs1271479389 884 L>F No gnomAD
TCGA novel 885 Q>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs199780413 886 P>S No Ensembl
rs772791356 887 D>N No ExAC
TOPMed
gnomAD
rs1263314743 888 N>D No TOPMed
gnomAD
rs1263314743 888 N>H No TOPMed
gnomAD
rs1162021268 888 N>S No gnomAD
rs2050673265 889 S>N No TOPMed
COSM3967236
COSM3967234
COSM3967235
891 L>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1201497545 893 W>* No gnomAD
rs756631887 895 K>N No ExAC
TOPMed
gnomAD
rs753156935 895 K>R No ExAC
rs2050673844 896 P>T No TOPMed
rs2050673933 897 T>K No TOPMed
gnomAD
rs1447566018 898 T>A No gnomAD
rs764378302 899 A>S No ExAC
gnomAD
rs754200278 899 A>V No ExAC
TOPMed
gnomAD
rs1193228304 900 S>F No gnomAD
COSM1152217 902 A>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1481470094 903 S>N No TOPMed
rs2050674801 903 S>R No gnomAD
rs757617776 903 S>R No ExAC
TOPMed
gnomAD
COSM6130796
COSM6130795
COSM1506407
COSM6130797
COSM6130798
rs749091097
906 A>E lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] No cosmic curated
NCI-TCGA Cosmic
NCI-TCGA
TOPMed
gnomAD
rs749091097 906 A>V No TOPMed
gnomAD
rs2050675191 908 L>F No Ensembl
TCGA novel 908 L>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1181732024 909 G>D No TOPMed
rs1023013888 911 L>F No TOPMed
gnomAD
rs2050675809 911 L>P No TOPMed
rs1023013888 911 L>V No TOPMed
gnomAD
COSM72213 912 N>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2050675908 913 N>D No Ensembl
rs2137515728 913 N>S No Ensembl
rs970162626 914 T>R No Ensembl
rs1320844399 923 L>V No gnomAD
rs879061152 924 G>V No gnomAD
rs973537952 926 A>V No TOPMed
gnomAD
rs1283564915 927 G>R No gnomAD
rs780303607 928 L>F No ExAC
gnomAD
rs61732521
RCV000712691
929 S>T No ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1274092765 930 S>I No gnomAD
rs768717488 930 S>R No ExAC
gnomAD
rs776768312 932 T>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs1487360805 934 G>V No gnomAD
TCGA novel 935 V>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs2050677555 935 V>I No gnomAD
COSM686039
COSM1146519
COSM1646362
937 D>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs772882305 938 L>F No ExAC
TOPMed
gnomAD
rs772882305 938 L>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs772882305 938 L>V No ExAC
TOPMed
gnomAD
rs765860462 942 K>N No ExAC
gnomAD
COSM4840166
COSM4840167
COSM4840165
COSM4840164
942 K>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2050678561 944 V>I No TOPMed
rs764568518 945 Y>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
gnomAD
rs759116659 945 Y>H No ExAC
TOPMed
gnomAD
rs754390172 946 M>I No ExAC
gnomAD
rs1419597023 946 M>K No gnomAD
rs1564824750 946 M>L No Ensembl
rs1419597023 946 M>T No gnomAD
rs2050679175 947 G>C No TOPMed
rs2050679175 947 G>S No TOPMed
rs1589413093 949 P>A No Ensembl
TCGA novel 949 P>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1589413093 949 P>S No Ensembl
rs911535516 950 G>R No gnomAD
rs911535516 950 G>S No gnomAD
rs1355716225 951 I>V No gnomAD
rs750609293 953 I>M No ExAC
gnomAD
COSM4940134
COSM4940135
COSM4940137
COSM4940136
953 I>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs369531579 953 I>V No ESP
ExAC
TOPMed
gnomAD
rs373257538 955 T>A No ESP
ExAC
TOPMed
gnomAD
rs780213480 955 T>I No ExAC
TOPMed
gnomAD
rs2137518055 956 V>M No Ensembl
rs2050680729 957 C>Y No gnomAD
rs955386857 958 V>A No TOPMed
gnomAD
TCGA novel
rs2050681205
960 N>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
rs2050681336 961 K>E No TOPMed
rs755159339 963 G>R No ExAC
gnomAD
rs1266883654 964 S>G No gnomAD
rs781246375 964 S>I No ExAC
gnomAD
rs1178702807 965 M>I No TOPMed
gnomAD
rs1015462195 965 M>V No TOPMed
rs1184475250 966 F>L No gnomAD
rs2050683027 968 S>T No Ensembl
rs769583065 969 E>D No ExAC
gnomAD
rs748066952 969 E>K No ExAC
gnomAD
rs748066952 969 E>Q No ExAC
gnomAD
rs921680781 971 G>A No TOPMed
gnomAD
rs1386567169 976 Y>C No TOPMed
gnomAD
COSM3441819
COSM3441821
COSM3441820
977 G>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs777446204 978 L>F No ExAC
gnomAD
rs369699653 979 Q>E No ESP
ExAC
TOPMed
gnomAD
TCGA novel 979 Q>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs770488694 980 T>A No ExAC
gnomAD
rs2050684856 981 T>I No gnomAD
rs1375857629 982 D>E No gnomAD
COSM3441824
COSM3441822
COSM3441823
rs759022354
982 D>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel
rs2050685801
987 H>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
Ensembl
rs763441024 989 V>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs2050686506 990 A>V No TOPMed
rs2050686578 991 P>A No TOPMed
gnomAD
rs2050686578 991 P>T No TOPMed
gnomAD
rs2050686970 993 H>R No Ensembl
rs2050686872 993 H>Y No Ensembl
rs1378903754 994 T>A No TOPMed
gnomAD
rs949014384 997 M>I No TOPMed
rs751871890
RCV000992631
999 F>L No ClinVar
ExAC
TOPMed
dbSNP
gnomAD
COSM368000 1001 G>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM4016804
rs376113551
COSM4016806
COSM4016805
1001 G>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs2137520716 1003 L>W No Ensembl
rs756013871 1004 E>D No ExAC
gnomAD
rs1816047274 1004 E>K No TOPMed
gnomAD
rs2050687979 1005 L>F No gnomAD
COSM6130794
COSM6130792
COSM6130791
COSM6130793
1005 L>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1168087143 1008 A>T No gnomAD
rs770758387 1009 V>A No ExAC
gnomAD
rs749025597 1009 V>L No ExAC
TOPMed
gnomAD
rs749025597 1009 V>M No ExAC
TOPMed
gnomAD
TCGA novel 1011 K>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs199673510 1011 K>R No gnomAD
rs1395362832 1015 F>S No gnomAD
rs1327100233 1016 P>A No gnomAD
rs1220705180 1017 D>N No gnomAD
rs1276478450 1019 R>K No gnomAD
COSM1287207
COSM1287208
COSM1287206
1021 Q>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs776237015 1024 R>G No ExAC
gnomAD
COSM1659515
rs762313611
1024 R>Q kidney [Cosmic] No cosmic curated
ExAC
gnomAD
rs776237015 1024 R>W No ExAC
gnomAD
rs770196468 1026 Q>* No ExAC
gnomAD
rs770196468 1026 Q>E No ExAC
gnomAD
rs2137522174 1026 Q>H No Ensembl
rs201933093 1028 V>I No ESP
ExAC
TOPMed
gnomAD
rs2050690720 1031 Y>C No gnomAD
rs766883789 1032 Q>* No ExAC
TOPMed
gnomAD
rs768254310
RCV001580285
1034 D>G No ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs746486644 1034 D>N No ExAC
gnomAD
rs773553954 1036 R>P No ExAC
TOPMed
gnomAD
rs773553954 1036 R>Q No ExAC
TOPMed
gnomAD
rs1031828990 1036 R>W No TOPMed
gnomAD
rs771364821 1037 Y>C No ExAC
TOPMed
gnomAD
rs771364821 1037 Y>F No ExAC
TOPMed
gnomAD
rs1245539376 1037 Y>H No gnomAD
TCGA novel 1039 G>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs767622781 1042 L>V No ExAC
gnomAD
rs775833869 1044 H>Y No ExAC
TOPMed
rs200419008 1045 A>T No ExAC
TOPMed
gnomAD
rs2137624990 1046 V>M No Ensembl
rs750212847 1051 G>D No ExAC
gnomAD
rs764944510 1051 G>S No ExAC
gnomAD
rs375633926
COSM1220930
1053 R>Q large_intestine [Cosmic] No cosmic curated
ESP
ExAC
TOPMed
gnomAD
rs779549576 1053 R>W No ExAC
TOPMed
gnomAD
TCGA novel 1054 W>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1252384003 1055 S>G No gnomAD
rs1437816828 1057 R>* No gnomAD
COSM1970401
COSM1970400
rs754397478
COSM1970402
1057 R>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
TOPMed
gnomAD
COSM3791044
COSM3791045
rs780768832
COSM3791043
1059 P>R Variant assessed as Somatic; MODERATE impact. urinary_tract [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs1589422307 1060 S>R No Ensembl
rs1183631930 1061 P>T No gnomAD
rs775057970 1064 S>L No ExAC
TOPMed
gnomAD
rs1299156613 1065 A>G No gnomAD
rs746217285 1066 K>E No ExAC
TOPMed
gnomAD
rs201554414 1066 K>R No ESP
ExAC
TOPMed
gnomAD
rs530440610 1071 P>A No 1000Genomes
ExAC
TOPMed
gnomAD
rs1233760819 1071 P>L No Ensembl
rs530440610 1071 P>S No 1000Genomes
ExAC
TOPMed
gnomAD
rs199555701 1072 N>D No 1000Genomes
ExAC
TOPMed
gnomAD
rs564249217 1072 N>K No 1000Genomes
ExAC
TOPMed
gnomAD
rs761945688 1073 M>V No ExAC
gnomAD
rs1259830097 1075 R>K No gnomAD
rs2050912107 1077 N>D No Ensembl
rs533132260 1077 N>S No 1000Genomes
ExAC
TOPMed
gnomAD
rs1014273898 1078 T>A No TOPMed
gnomAD
rs762697292 1078 T>N No ExAC
gnomAD
rs1024281662 1080 G>A No TOPMed
gnomAD
rs1024281662 1080 G>D No TOPMed
gnomAD
rs1423525893 1081 I>K No gnomAD
rs751116995 1081 I>V No ExAC
gnomAD
rs1402922181 1084 T>I No gnomAD
TCGA novel 1085 K>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1464344672 1086 K>R No gnomAD
rs754664492 1087 K>N No ExAC
TOPMed
gnomAD
rs2050913614 1087 K>R No Ensembl
rs780778339 1088 K>E No ExAC
gnomAD
rs752243865 1088 K>R No ExAC
rs1394137090 1089 K>E No TOPMed
gnomAD
rs755738108 1089 K>N No ExAC
gnomAD
rs929071659 1090 I>L No Ensembl
rs929071659 1090 I>V No Ensembl
rs1281983846 1091 L>F No gnomAD
rs2050914456 1091 L>P No TOPMed
rs374934241 1092 M>I No ESP
ExAC
TOPMed
gnomAD
rs746405415 1093 R>K No ExAC
gnomAD
rs746405415 1093 R>T No ExAC
gnomAD
rs956275597 1094 G>C No TOPMed
gnomAD
TCGA novel 1095 E>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1564832268 1096 S>N No Ensembl
rs577187940 1098 E>A No 1000Genomes
ExAC
gnomAD
rs769807716 1099 V>E No ExAC
TOPMed
gnomAD
rs769807716 1099 V>G No ExAC
TOPMed
gnomAD
rs2050983118 1099 V>L No TOPMed
rs954154818 1100 T>I No TOPMed
gnomAD
COSM4016809
COSM4016808
COSM4016807
rs763011760
1102 D>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
TOPMed
gnomAD
rs763011760 1102 D>Y No ExAC
TOPMed
gnomAD
rs770891858 1104 M>T No ExAC
TOPMed
gnomAD
rs2132854636 1105 A>E No Ensembl
rs2050984292 1106 T>A No TOPMed
rs774206142 1107 R>Q No ExAC
TOPMed
gnomAD
rs759348587 1109 A>S No ExAC
TOPMed
gnomAD
rs759348587 1109 A>T No ExAC
TOPMed
gnomAD
rs767455902 1111 M>T No ExAC
TOPMed
gnomAD
rs2050985080 1112 H>Q No Ensembl
COSM1474886
COSM5200026
rs1440919623
COSM1474885
COSM428166
1114 E>D Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs533569760 1114 E>K No 1000Genomes
ExAC
TOPMed
gnomAD
rs533569760 1114 E>Q No 1000Genomes
ExAC
TOPMed
gnomAD
rs2132855108 1115 C>F No Ensembl
rs121912602 1116 R>G Nephrotic syndrome, type 3 (nphs3) [Ensembl] No ExAC
TOPMed
gnomAD
rs201350449 1116 R>L No ESP
ExAC
TOPMed
gnomAD
rs201350449 1116 R>Q No ESP
ExAC
TOPMed
gnomAD
rs772363295 1118 R>Q No ExAC
TOPMed
gnomAD
rs756774063 1118 R>W No ExAC
TOPMed
gnomAD
rs752045984 1119 S>N No ExAC
gnomAD
rs372493357 1120 G>D No ExAC
TOPMed
gnomAD
rs372493357 1120 G>V No ExAC
TOPMed
gnomAD
rs781551456 1122 D>G No ExAC
TOPMed
gnomAD
rs1331510718 1123 P>H No Ensembl
rs748303342 1124 Q>P No ExAC
TOPMed
gnomAD
rs748303342 1124 Q>R No ExAC
TOPMed
gnomAD
rs867256208 1125 D>N No TOPMed
gnomAD
rs867256208 1125 D>Y No TOPMed
gnomAD
rs377402718 1126 I>V No ESP
ExAC
TOPMed
gnomAD
TCGA novel 1130 E>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs1173569661 1130 E>G No TOPMed
gnomAD
rs2050987713 1130 E>Q No TOPMed
rs752056387 1133 E>A No ExAC
TOPMed
gnomAD
rs752056387 1133 E>G No ExAC
TOPMed
gnomAD
rs1440143492 1134 V>G No gnomAD
rs755481126 1134 V>M No ExAC
TOPMed
gnomAD
rs2132865347 1136 A>T No Ensembl
rs2051011476 1136 A>V No Ensembl
rs2051011643 1137 I>V No gnomAD
rs753048370
COSM1585228
COSM1585229
COSM921657
1138 A>T Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1367424901 1139 N>K No TOPMed
gnomAD
rs2051012507 1140 P>L No TOPMed
rs745848489 1140 P>S No TOPMed
gnomAD
rs745848489 1140 P>T No TOPMed
gnomAD
rs756521986 1142 N>K No ExAC
TOPMed
gnomAD
rs2051012911 1143 P>L No TOPMed
rs1317856330 1144 L>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
gnomAD
rs757315158 1147 R>G No 1000Genomes
ExAC
TOPMed
gnomAD
rs1304457385 1147 R>K No gnomAD
rs2051013866 1148 R>G No TOPMed
rs1372617995 1151 S>C No TOPMed
rs1394322207 1151 S>P No gnomAD
TCGA novel 1151 S>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
COSM4016810
COSM4016811
COSM4016812
1152 L>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs745747725 1153 T>I No ExAC
TOPMed
gnomAD
rs745747725 1153 T>N No ExAC
TOPMed
gnomAD
rs371294665 1155 A>P No ESP
ExAC
TOPMed
gnomAD
rs371294665 1155 A>T No ESP
ExAC
TOPMed
gnomAD
rs539061909 1156 G>A No TOPMed
gnomAD
rs539061909 1156 G>V No TOPMed
gnomAD
rs768610934 1157 S>F No ExAC
gnomAD
rs1234627666 1158 P>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
gnomAD
rs776306167 1159 N>S No ExAC
TOPMed
gnomAD
TCGA novel 1161 A>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs761394585 1162 A>S No ExAC
gnomAD
COSM1349934
COSM1349932
COSM5140961
COSM1349933
1162 A>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs578176464 1163 G>R No 1000Genomes
ExAC
TOPMed
gnomAD
COSM3441826
COSM3441825
COSM3441827
1167 P>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1178176115 1168 I>F No gnomAD
rs753244923 1169 R>S No ExAC
TOPMed
gnomAD
rs760990876 1170 P>L No ExAC
gnomAD
rs757421093 1171 V>A No ExAC
TOPMed
gnomAD
rs1296521084 1172 S>F No gnomAD
rs2051018900 1172 S>T No gnomAD
rs746745562 1172 S>V No ExAC
rs1387669948 1174 P>A No TOPMed
gnomAD
rs2051019940 1174 P>L No TOPMed
rs1387669948 1174 P>S No TOPMed
gnomAD
rs750514109 1175 V>G No 1000Genomes
ExAC
TOPMed
gnomAD
rs2051020492 1177 S>A No TOPMed
rs2051020849 1179 S>L No TOPMed
rs758597789 1180 N>K No ExAC
gnomAD
rs367778209 1184 S>C No ESP
ExAC
TOPMed
gnomAD
rs1167101726 1186 A>S No gnomAD
rs1348516267 1186 A>V No gnomAD
rs200141684 1189 S>G No 1000Genomes
ExAC
TOPMed
gnomAD
rs769027296 1190 S>G No ExAC
TOPMed
gnomAD
COSM269898 1192 W>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs762050661 1194 G>R No ExAC
TOPMed
gnomAD
rs763280408 1195 R>Q No ExAC
gnomAD
rs370773518 1199 G>D No ESP
ExAC
TOPMed
gnomAD
rs767328344 1200 M>L No ExAC
TOPMed
gnomAD
rs767328344 1200 M>V No ExAC
TOPMed
gnomAD
rs752714644 1202 G>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs777562042 1207 M>V No ExAC
gnomAD
rs2051195027 1208 V>A No TOPMed
rs2051194926
TCGA novel
1208 V>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
COSM1133919
COSM5201794
COSM5201795
COSM428167
1210 D>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs756895101 1210 D>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
gnomAD
COSM6067180
COSM6067181
COSM6067183
COSM6067182
1211 S>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1201260365 1212 N>S No gnomAD
rs778591304 1215 F>Y No ExAC
TOPMed
gnomAD
rs745345130 1216 V>F No ExAC
gnomAD
rs745345130 1216 V>I No ExAC
gnomAD
TCGA novel 1217 E>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 1218 F>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 1220 E>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 1224 S>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs866394425 1226 S>G No gnomAD
rs1338175454 1230 R>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
gnomAD
COSM1474889
COSM5226868
COSM1474890
rs2051200242
COSM1474891
1230 R>H Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
Ensembl
rs2051200242 1230 R>L No Ensembl
rs2051200428 1231 K>N No gnomAD
rs778503393 1231 K>R No ExAC
gnomAD
rs757795778 1235 D>E No ExAC
TOPMed
gnomAD
rs2051200874 1235 D>V No gnomAD
rs1564837390 1238 D>G No Ensembl
TCGA novel 1238 D>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 1238 D>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs779628620 1239 V>I No ExAC
TOPMed
gnomAD
rs935673723 1240 Y>H No TOPMed
gnomAD
TCGA novel 1241 A>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs770420406 1242 V>A No ExAC
TOPMed
gnomAD
rs1226061657 1243 P>A No TOPMed
rs267606955 1246 R>G Nephrotic syndrome, type 3 (nphs3) [Ensembl] No ExAC
TOPMed
gnomAD
rs374570009 1246 R>L No ESP
ExAC
TOPMed
gnomAD
rs374570009 1246 R>P No ESP
ExAC
TOPMed
gnomAD
rs374570009
COSM921660
COSM4651062
COSM1585222
COSM1585223
1246 R>Q Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs759820322 1247 S>C No ExAC
TOPMed
gnomAD
rs759820322 1247 S>F No ExAC
TOPMed
gnomAD
rs866284212 1249 S>F No Ensembl
COSM5469460
COSM5469463
COSM5469461
rs775639600
COSM5469462
1250 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
gnomAD
rs2051203070 1253 P>A No Ensembl
rs760720254 1256 T>A No ExAC
TOPMed
gnomAD
COSM3441830
COSM3441828
COSM3441829
1256 T>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs760720254 1256 T>P No ExAC
TOPMed
gnomAD
rs1296627391 1257 N>S No TOPMed
gnomAD
rs2051203902 1258 L>P No TOPMed
rs1351334345 1260 I>T No TOPMed
gnomAD
rs1434225252 1261 D>E No gnomAD
rs753816984 1262 E>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No ExAC
NCI-TCGA
gnomAD
rs1241012234 1264 T>N No gnomAD
rs1432013966 1265 S>T No gnomAD
rs2051205002 1266 D>G No Ensembl
COSM3441833
rs2051204883
COSM3441831
COSM3441832
1266 D>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
TOPMed
gnomAD
COSM1349943
COSM1349945
COSM1349944
COSM5131288
1266 D>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1476945487 1269 P>T No TOPMed
rs1348884857 1270 D>N No TOPMed
gnomAD
rs749988048 1271 L>V No ExAC
gnomAD
rs766023332 1273 L>P No ExAC
gnomAD
rs751200886 1277 N>S No ExAC
gnomAD
rs1340734586 1278 V>A No TOPMed
gnomAD
TCGA novel 1278 V>G Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs754487813 1278 V>I No ExAC
gnomAD
rs575762810 1279 S>L No 1000Genomes
ExAC
TOPMed
gnomAD
rs757831852 1280 D>N No ExAC
gnomAD
rs757831852 1280 D>Y No ExAC
gnomAD
rs746226079 1281 L>F No ExAC
TOPMed
gnomAD
rs779342517 1281 L>S No ExAC
gnomAD
rs1564840438 1282 G>R No Ensembl
rs780286250 1285 I>F No ExAC
TOPMed
gnomAD
rs780286250 1285 I>L No ExAC
TOPMed
gnomAD
COSM5192321
COSM5192322
COSM1133920
1285 I>S Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs747256450 1286 K>E No ExAC
gnomAD
rs2051338373 1286 K>N No Ensembl
rs200409656 1286 K>R No TOPMed
rs2051338473 1287 S>R No TOPMed
rs1318965929 1288 K>T No gnomAD
rs776697711 1290 Q>H No ExAC
TOPMed
gnomAD
rs768666755 1290 Q>L No ExAC
gnomAD
rs1407013393 1292 S>* No TOPMed
rs1407013393
COSM1220936
1292 S>L large_intestine [Cosmic] No cosmic curated
TOPMed
rs1283124862 1292 S>P No Ensembl
rs201423664 1293 D>G No ESP
ExAC
TOPMed
gnomAD
TCGA novel 1294 N>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1391588139 1294 N>Y No TOPMed
rs1186700450 1295 Q>R No gnomAD
rs773062926 1296 R>K No ExAC
gnomAD
rs2051340221 1298 I>M No TOPMed
rs762769053 1298 I>V No ExAC
TOPMed
gnomAD
rs267602625 1299 S>F No Ensembl
rs2051340438 1303 A>G No Ensembl
rs942852147 1304 A>V No TOPMed
rs2051340631 1307 I>V No Ensembl
rs2051340779 1309 T>R No TOPMed
rs766108640 1312 T>S No ExAC
rs774088194 1314 I>M No ExAC
TOPMed
gnomAD
rs1372474008 1314 I>V No TOPMed
gnomAD
rs767341790 1315 E>D No ExAC
TOPMed
gnomAD
rs759264327 1315 E>K No ExAC
gnomAD
rs752237635 1317 T>I No ExAC
TOPMed
gnomAD
rs1344374749 1318 S>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
gnomAD
rs765748194 1319 L>P No ExAC
gnomAD
TCGA novel 1319 L>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1299346018 1322 F>L No TOPMed
gnomAD
rs1384312021 1322 F>Y No gnomAD
rs1368657323 1323 G>E No TOPMed
rs758743699 1324 V>A No ExAC
gnomAD
rs867372355
COSM1133326
1325 G>D kidney [Cosmic] No cosmic curated
Ensembl
rs1438360400 1325 G>S No TOPMed
gnomAD
rs780298176 1326 I>K No ExAC
gnomAD
rs2051343281 1326 I>V No Ensembl
rs747170266 1327 L>F No ExAC
gnomAD
rs1209743554 1328 Q>E No gnomAD
rs887784910 1328 Q>R No Ensembl
rs755190924 1330 N>D No ExAC
gnomAD
COSM921661
COSM1585220
COSM1585221
1331 D>A Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs372685240 1331 D>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs773151394 1333 L>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs1200839708 1333 L>P No gnomAD
rs61886335 1334 V>L No ExAC
TOPMed
gnomAD
rs61886335 1334 V>M No ExAC
TOPMed
gnomAD
rs1748430092 1335 N>I No 1000Genomes
rs997620952 1336 C>Y No TOPMed
rs759458474 1341 C>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
gnomAD
rs759458474 1341 C>Y No ExAC
gnomAD
rs767251854 1342 T>A No ExAC
gnomAD
rs1425436432 1342 T>I No TOPMed
TCGA novel 1342 T>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs763537813 1343 Y>* No ExAC
TOPMed
gnomAD
rs775326157 1343 Y>C No ExAC
TOPMed
gnomAD
rs775326157
COSM1187996
1343 Y>F lung [Cosmic] No cosmic curated
ExAC
TOPMed
gnomAD
COSM4901808
COSM4901807
COSM4901806
COSM4901805
1345 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2051345948 1348 S>N No TOPMed
gnomAD
rs1232980375 1350 I>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
gnomAD
TCGA novel 1351 Q>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs2133063867 1352 K>E No Ensembl
rs2133063900 1352 K>N No Ensembl
rs61751499 1353 F>L No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs2051487896 1353 F>L No Ensembl
rs2133063965 1353 F>S No Ensembl
COSM1152218 1354 E>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1564843295
COSM1474892
1354 E>K Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic] No cosmic curated
NCI-TCGA
gnomAD
rs1243745506 1355 P>T No TOPMed
gnomAD
rs2051488992 1356 S>I No TOPMed
rs1318388132 1357 I>F No Ensembl
rs1221670185 1357 I>M No Ensembl
rs1279990462 1357 I>T No Ensembl
rs1589442441 1359 M>K No Ensembl
rs1366282160 1362 Q>E No TOPMed
gnomAD
rs2051489731 1363 G>E No Ensembl
rs761445364 1366 S>P No ExAC
TOPMed
gnomAD
rs752101948 1367 F>I No ExAC
gnomAD
rs2051490160 1367 F>L No TOPMed
rs532167723 1368 E>D No 1000Genomes
ExAC
gnomAD
rs1424595212 1368 E>K No gnomAD
rs1424595212 1368 E>Q No gnomAD
rs369676435 1371 A>S No ESP
ExAC
TOPMed
gnomAD
TCGA novel 1380 F>L Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs1255871441 1381 A>P No gnomAD
rs2051494450 1383 K>E No Ensembl
COSM4715081
COSM4715080
COSM4715082
rs1564843502
COSM4715079
1384 N>M Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
rs771937306 1385 D>G No ExAC
TOPMed
gnomAD
rs1193007439 1385 D>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
rs373593323 1386 E>A No ESP
ExAC
TOPMed
gnomAD
rs373593323 1386 E>V No ESP
ExAC
TOPMed
gnomAD
rs1232485824 1391 I>V No TOPMed
rs2051495488 1393 E>D No TOPMed
rs2133066319 1393 E>K No Ensembl
rs1359169206 1397 P>S No gnomAD
RCV001385982
rs750815297
1398 L>missing No ClinVar
dbSNP
rs765106847 1400 Y>C No TOPMed
gnomAD
rs765106847 1400 Y>F No TOPMed
gnomAD
rs1400427421 1401 Y>C No gnomAD
rs2051496689 1401 Y>H No Ensembl
rs1020324868 1403 I>V No Ensembl
rs1213917729 1404 E>G No TOPMed
gnomAD
rs575613361 1404 E>K No TOPMed
gnomAD
rs1294951284 1406 S>L No gnomAD
rs761198488 1407 H>D No ExAC
TOPMed
gnomAD
rs2051497777 1407 H>P No Ensembl
rs761198488 1407 H>Y No ExAC
TOPMed
gnomAD
rs769314870 1411 L>R No ExAC
gnomAD
rs376243775
COSM1220942
1412 T>M large_intestine [Cosmic] No cosmic curated
ESP
ExAC
TOPMed
gnomAD
rs1013956708 1413 G>A No TOPMed
gnomAD
rs1395184523 1414 H>Y No gnomAD
COSM1349948
COSM5156116
COSM1349947
COSM1349946
1416 L>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs768077598 1417 K>Q No ExAC
gnomAD
COSM3868104
rs370622297
COSM3868103
COSM3868102
1418 G>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1408950534 1419 E>G No TOPMed
gnomAD
COSM4830038
COSM4830037
COSM4830039
COSM4830036
1419 E>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM1585218
COSM1585219
rs761148662
COSM921663
1421 S>L Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1564843738 1424 L>F No Ensembl
rs754117196 1427 Q>P No ExAC
TOPMed
gnomAD
rs754117196 1427 Q>R No ExAC
TOPMed
gnomAD
rs776101909 1429 L>V No ExAC
gnomAD
rs760903665 1430 L>* No ExAC
TOPMed
gnomAD
rs760903665 1430 L>S No ExAC
TOPMed
gnomAD
rs764545119 1433 C>R No ExAC
gnomAD
rs776663468 1433 C>S No ExAC
TOPMed
gnomAD
rs776663468 1433 C>Y No ExAC
TOPMed
gnomAD
rs1274185689 1434 R>* No gnomAD
COSM1220943
COSM1349949
COSM5826853
COSM1220944
1434 R>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs765625216 1436 V>I No ExAC
gnomAD
rs2051614417 1437 E>A No TOPMed
TCGA novel 1440 C>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1251852335 1441 W>* No gnomAD
rs1183306182 1443 G>R No TOPMed
gnomAD
rs2133103739 1443 G>V No Ensembl
rs1423447994 1445 D>G No TOPMed
gnomAD
COSM1349951
COSM1349952
COSM1349950
COSM5100918
1445 D>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs368429183 1445 D>Y No ESP
TOPMed
TCGA novel 1447 M>C Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs1469293582 1447 M>K No gnomAD
TCGA novel 1447 M>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs754671370 1449 I>V No ExAC
gnomAD
rs2051616208 1452 H>Y No gnomAD
rs983730547 1453 G>E No TOPMed
gnomAD
rs1164068178 1455 T>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
gnomAD
rs1164068178 1455 T>R No TOPMed
gnomAD
rs1589446823 1456 L>R No Ensembl
rs866629033 1457 T>I No Ensembl
rs866629033 1457 T>K No Ensembl
rs1392078248 1458 T>A No gnomAD
rs1330951857 1458 T>N No gnomAD
COSM3441841
COSM3441840
COSM3441842
1461 P>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2051617972 1463 K>E No Ensembl
rs2051687357 1464 E>A No Ensembl
rs767410318 1466 V>F No ExAC
gnomAD
rs767410318 1466 V>I No ExAC
gnomAD
rs767410318 1466 V>L No ExAC
gnomAD
rs1589449171 1467 E>K No Ensembl
rs2051688064 1468 A>D No Ensembl
rs752465893 1469 I>T No ExAC
TOPMed
gnomAD
rs1009208215 1469 I>V No TOPMed
gnomAD
rs1589449189 1470 D>Y No TOPMed
rs778433836 1471 R>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
gnomAD
rs199793703 1471 R>L No 1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 1472 S>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs2051688967 1473 A>* No TOPMed
rs2051689215 1473 A>D No TOPMed
gnomAD
rs1589449211 1473 A>P No Ensembl
rs1190870060 1475 I>M No TOPMed
gnomAD
rs1430243872 1475 I>V No gnomAD
rs560712395 1476 N>I No 1000Genomes
ExAC
TOPMed
gnomAD
rs560712395 1476 N>S No 1000Genomes
ExAC
TOPMed
gnomAD
rs560712395 1476 N>T No 1000Genomes
ExAC
TOPMed
gnomAD
rs2051689915 1477 S>C No TOPMed
rs745439074 1478 D>A No ExAC
gnomAD
rs769196439 1478 D>E No ExAC
TOPMed
gnomAD
rs991464575 1480 P>Q No Ensembl
rs529475564 1481 I>V No 1000Genomes
TOPMed
gnomAD
TCGA novel 1482 I>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1393795942 1485 I>V No TOPMed
TCGA novel 1487 N>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs770314103 1489 C>R No ExAC
gnomAD
COSM1585215
COSM921665
COSM1585214
1490 S>P Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2051691492 1493 Q>E No Ensembl
COSM5371362
COSM139850
COSM1722506
rs771124727
COSM222187
1495 R>Q NS Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] No NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs759582192 1497 M>I No ExAC
gnomAD
rs774474634 1497 M>V No ExAC
gnomAD
TCGA novel 1497 M>W Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
COSM1585212
COSM1585213
COSM921666
1499 E>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1345378487 1500 I>M No gnomAD
rs1233025723 1501 F>C No gnomAD
COSM5228116
COSM1474895
COSM1474894
COSM428171
1502 K>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1159598158 1514 L>I No TOPMed
rs2051830475 1516 E>G No TOPMed
gnomAD
TCGA novel 1518 D>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
COSM1585210
COSM1585211
COSM921667
1519 F>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs931524881 1519 F>Y No TOPMed
gnomAD
rs772160156 1520 S>A No ExAC
gnomAD
rs775344945 1520 S>L No ExAC
gnomAD
rs772160156 1520 S>P No ExAC
gnomAD
rs760606863 1521 D>G No ExAC
gnomAD
rs1182368388 1522 D>N No TOPMed
gnomAD
rs865837779 1523 P>L No Ensembl
rs2051831551 1523 P>S No Ensembl
rs764087748 1524 M>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
gnomAD
COSM5158843
COSM1349956
COSM1349958
COSM1349957
1526 P>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs776401726 1526 P>S No ExAC
gnomAD
rs761566268 1527 S>P No ExAC
TOPMed
gnomAD
COSM1152219
rs2051832384
1528 P>H Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
TOPMed
rs2051832384 1528 P>R No TOPMed
rs1389250936 1528 P>S No TOPMed
gnomAD
rs1355796898 1529 D>E No TOPMed
gnomAD
RCV000519966
CA5613173
rs182314619
1529 D>V No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1235091819 1531 L>V No gnomAD
TCGA novel 1533 K>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1485358230 1536 L>I No TOPMed
gnomAD
rs750075391 1536 L>P No ExAC
gnomAD
TCGA novel 1536 L>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs2051833352 1537 L>F No Ensembl
TCGA novel 1540 K>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs757878108 1540 K>R No ExAC
TOPMed
gnomAD
rs1331277852 1541 K>N No Ensembl
rs766002774 1542 L>I No ExAC
TOPMed
gnomAD
rs766002774 1542 L>V No ExAC
TOPMed
gnomAD
rs1261632735 1545 H>L No TOPMed
gnomAD
rs751180713 1546 Q>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
gnomAD
rs2051834185 1546 Q>H No TOPMed
rs768854393 1547 T>M No ExAC
TOPMed
gnomAD
rs1475718709 1549 V>E No gnomAD
rs2051834619 1549 V>M No gnomAD
rs376222459 1550 D>Y No ESP
ExAC
TOPMed
gnomAD
rs757589468 1554 Q>K No ExAC
gnomAD
rs2133172714 1555 K>N No Ensembl
rs757579659 1556 A>P No ExAC
gnomAD
rs757579659 1556 A>S No ExAC
gnomAD
rs757579659 1556 A>T No ExAC
gnomAD
rs1358302667 1556 A>V No gnomAD
COSM686035
COSM1146523
COSM1646358
1558 Q>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs758609545 1560 A>V No ExAC
gnomAD
COSM3415374
COSM3415375
COSM3415376
COSM5078857
1561 S>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1391076246 1562 M>T No TOPMed
rs2133254310 1564 V>A No Ensembl
rs780305452 1564 V>M No ExAC
TOPMed
gnomAD
TCGA novel
rs768754811
1565 Q>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
ExAC
gnomAD
rs1265008421 1566 A>S No TOPMed
rs2052128193 1567 Y>* No TOPMed
rs1348871494 1569 G>C No gnomAD
rs897492037 1569 G>D No TOPMed
rs748050550 1570 G>R No ExAC
gnomAD
TCGA novel
rs1589464286
1571 N>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
Ensembl
rs769566656 1572 A>P No ExAC
gnomAD
rs865781686 1572 A>V No Ensembl
rs762889107 1573 N>K No ExAC
TOPMed
gnomAD
rs772868962 1573 N>T No ExAC
gnomAD
rs1187459288 1574 P>A No TOPMed
gnomAD
rs1187459288 1574 P>S No TOPMed
gnomAD
rs2274224 1575 R>L No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs765834047 1576 P>S No ExAC
gnomAD
rs2052131388 1577 A>D No Ensembl
rs1216357274 1577 A>T No Ensembl
TCGA novel 1580 E>A Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1023411023 1582 E>D No Ensembl
COSM6130785
COSM6130783
COSM6130784
COSM6130786
1586 E>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM4016823
COSM4016824
rs1282534937
COSM4016822
1588 E>G Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
gnomAD
TCGA novel 1588 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1024165268 1593 Y>C No TOPMed
rs1319983314 1596 L>P No gnomAD
rs1443119002 1599 D>E No TOPMed
gnomAD
rs1281653799 1600 N>D No gnomAD
rs2052337127 1600 N>K No TOPMed
rs1228355324 1603 E>A No gnomAD
rs750964111 1604 D>E No ExAC
gnomAD
rs765634224
COSM1603870
1604 D>H liver [Cosmic] No cosmic curated
ExAC
TOPMed
gnomAD
rs1207616254 1605 R>G No gnomAD
rs1443540342 1608 N>S No gnomAD
rs1288527473 1609 K>N No TOPMed
gnomAD
COSM4715085
COSM4715084
COSM4715083
COSM4715086
1610 S>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1014863355 1611 C>* No TOPMed
gnomAD
rs1438056519 1611 C>R No gnomAD
rs1564860133 1611 C>Y No gnomAD
rs371524257 1615 L>F No ESP
TOPMed
gnomAD
rs371524257 1615 L>I No ESP
TOPMed
gnomAD
rs763255266 1616 Q>H No ExAC
TOPMed
gnomAD
rs766744123 1617 F>L No ExAC
gnomAD
rs1188868783 1618 E>D No TOPMed
rs2052339052 1619 Y>C No gnomAD
rs1420005853 1623 I>V No gnomAD
rs1471766120 1626 R>K No TOPMed
gnomAD
rs1471766120 1626 R>M No TOPMed
gnomAD
rs972762217 1627 I>V No Ensembl
COSM921671
COSM1585207
rs988525181
COSM1585206
1628 K>N Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
TOPMed
rs755152638 1630 A>E No ExAC
gnomAD
rs539090556
RCV000980308
1630 A>T No ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
rs1294281128 1631 D>G No gnomAD
COSM4844269
COSM4844266
COSM4844268
COSM4844267
1631 D>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1357989560 1633 S>P No gnomAD
rs2052340787 1636 N>H No TOPMed
gnomAD
rs2052340882 1636 N>S No TOPMed
rs1243172719 1637 K>E No gnomAD
rs2052341081 1638 G>V No Ensembl
rs1589475254 1640 V>A No Ensembl
rs371691449 1640 V>I No ESP
ExAC
TOPMed
gnomAD
rs371691449 1640 V>L No ESP
ExAC
TOPMed
gnomAD
rs2052379194 1641 Y>C No Ensembl
TCGA novel 1644 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1341022209 1645 L>P No TOPMed
gnomAD
rs375092651 1645 L>V No ESP
ExAC
TOPMed
gnomAD
rs759983858 1647 E>D No ExAC
TOPMed
gnomAD
COSM3415377
COSM5825667
COSM3415378
COSM3415379
1648 E>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1238732808 1650 Y>F No TOPMed
gnomAD
rs2133337317 1650 Y>H No Ensembl
rs1238732808 1650 Y>S No TOPMed
gnomAD
rs2052379881 1653 Q>R No Ensembl
rs373844518 1654 N>S No ESP
ExAC
gnomAD
COSM1970500
COSM1970501
rs2052380259
COSM1970502
1657 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
TOPMed
rs2052380526 1660 Q>* No Ensembl
rs1448650125 1661 I>V No gnomAD
rs1487080758 1662 A>V No gnomAD
rs41291138 1663 P>S No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs41291138 1663 P>T No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 1664 E>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs756088601 1665 L>F No ExAC
gnomAD
rs1234317631 1667 D>N No TOPMed
gnomAD
COSM3441847
COSM329537
COSM3441846
1668 L>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2052381416 1669 V>L No Ensembl
rs754034304 1672 C>F No ExAC
gnomAD
rs1172343524 1674 A>P No gnomAD
rs2052381808 1676 K>N No gnomAD
COSM1585205
COSM921672
COSM1585204
1676 K>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1386394599 1677 F>I No gnomAD
TCGA novel 1677 F>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1243136941 1678 P>S No TOPMed
gnomAD
rs1243136941 1678 P>T No TOPMed
gnomAD
rs2052708471 1679 G>E No TOPMed
gnomAD
rs200570410 1679 G>R No ExAC
gnomAD
rs757455360 1680 L>R No ExAC
gnomAD
rs753944067 1680 L>V No ExAC
rs1479758750 1682 T>I No TOPMed
gnomAD
rs937542975 1685 A>V No TOPMed
rs2052709328 1686 S>F No TOPMed
rs2052709215 1686 S>T No TOPMed
rs765229262 1688 S>C No ExAC
gnomAD
rs1335336022 1690 R>K No gnomAD
rs1335336022 1690 R>T No gnomAD
rs2052709838
TCGA novel
1691 G>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
gnomAD
rs2133454288 1694 R>K No Ensembl
rs1055957017 1697 R>K No TOPMed
rs1267301603 1701 F>L No TOPMed
gnomAD
RCV001908295
rs2133454427
1701 F>S No ClinVar
Ensembl
dbSNP
rs201633028
RCV002096149
1704 N>S No ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1251741271 1705 P>A No TOPMed
gnomAD
rs539813481 1705 P>L No 1000Genomes
ExAC
TOPMed
gnomAD
rs539813481 1705 P>Q No 1000Genomes
ExAC
TOPMed
gnomAD
rs754613559 1707 R>G No ExAC
TOPMed
gnomAD
rs780873471 1707 R>K No ExAC
TOPMed
gnomAD
rs2052711356 1708 M>R No Ensembl
rs1378053673 1711 G>E No TOPMed
rs1405270558 1711 G>W No gnomAD
TCGA novel 1712 E>A Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1333813518 1713 T>I No TOPMed
gnomAD
rs2052711841 1714 A>T No TOPMed
TCGA novel 1720 S>L Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs929600820 1722 K>Q No Ensembl
COSM4405486
COSM4405485
COSM4405484
1723 S>= Variant assessed as Somatic; LOW impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1038433250 1723 S>N No TOPMed
gnomAD
COSM921673
COSM1585202
COSM1585203
1723 S>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
TCGA novel 1723 S>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
RCV000722362
rs1564873908
1725 C>missing No ClinVar
dbSNP
rs780773220 1725 C>F No ExAC
TOPMed
gnomAD
rs752359550 1725 C>W No ExAC
TOPMed
gnomAD
COSM3868107
COSM3868106
COSM3868105
1727 G>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2052916640
TCGA novel
1727 G>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
Ensembl
rs2052916537 1727 G>S No Ensembl
rs777329061 1729 R>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
COSM921674
COSM1585201
rs368531853
COSM1585200
1729 R>Q Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1051743395 1730 Q>E No Ensembl
rs1226440254 1731 T>I No gnomAD
rs772606467 1732 W>R No ExAC
TOPMed
gnomAD
rs2052917485 1733 E>G No Ensembl
rs2052917389 1733 E>K No TOPMed
rs267602626 1734 E>* No gnomAD
rs267602626 1734 E>K No gnomAD
rs1236250466 1734 E>V No gnomAD
COSM1474897
COSM428172
COSM1474896
COSM5227757
1735 S>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs769168756 1736 S>A No ExAC
gnomAD
rs1249334030 1736 S>F No gnomAD
RCV000912809
rs762135003
1737 S>F No ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs891372245 1738 P>A No TOPMed
gnomAD
rs770207968 1738 P>R No ExAC
gnomAD
COSM3441853
COSM3441852
COSM3441851
1738 P>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1173624921 1739 L>F No gnomAD
rs112359735 1742 T>A No Ensembl
rs1179835431 1742 T>I No TOPMed
rs117545428 1743 T>M No 1000Genomes
ExAC
TOPMed
gnomAD
rs1367411406 1744 S>Y No gnomAD
rs1433215737 1745 L>F No gnomAD
rs1185378074 1747 A>G No TOPMed
gnomAD
rs1185378074 1747 A>V No TOPMed
gnomAD
rs1297178595 1748 I>S No gnomAD
rs2052920557 1751 T>I No Ensembl
rs2052920754
COSM1220938
1753 K>R large_intestine [Cosmic] No cosmic curated
Ensembl
rs2052920838 1754 C>Y No Ensembl
COSM3808049
COSM1220945
COSM1220946
COSM5831617
1756 H>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs371506038 1756 H>R No ESP
ExAC
TOPMed
gnomAD
rs759267806 1759 S>L No ExAC
gnomAD
rs1228062735 1763 N>I No TOPMed
gnomAD
rs544095097 1764 A>S No 1000Genomes
ExAC
gnomAD
rs563882342 1765 A>T No 1000Genomes
ExAC
gnomAD
rs2133536861 1767 R>C No 1000Genomes
rs373607060 1767 R>H No ESP
ExAC
TOPMed
gnomAD
COSM3738793
rs747535637
1770 R>C liver [Cosmic] No cosmic curated
ExAC
gnomAD
rs755331165 1770 R>H No ExAC
TOPMed
gnomAD
TCGA novel 1771 R>G Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs2052922661 1771 R>T No TOPMed
rs1386309138 1774 Q>* No gnomAD
rs3765524 1777 T>N No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs773347686 1778 Q>H No ExAC
gnomAD
TCGA novel 1778 Q>P Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 1780 T>A Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs749337785 1780 T>I No ExAC
TOPMed
gnomAD
rs749337785 1780 T>N No ExAC
TOPMed
gnomAD
rs184878324 1781 A>S No 1000Genomes
ExAC
TOPMed
gnomAD
rs184878324 1781 A>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No 1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1229352883 1781 A>V No gnomAD
rs375009518 1783 Q>R No ESP
ExAC
gnomAD
rs1327628714 1786 R>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
gnomAD
rs368327192 1786 R>S No ESP
ExAC
gnomAD
rs763759972 1789 P>S No ExAC
gnomAD
rs1245949386 1793 R>C No gnomAD
COSM1585198
COSM1585199
COSM921675
rs1472812094
1793 R>H Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs2052925451 1795 D>E No TOPMed
rs2052925360 1795 D>N No TOPMed
rs2052925557 1797 S>A No Ensembl
rs764661960 1797 S>C No ExAC
gnomAD
COSM3383113
COSM3383112
COSM3383114
1798 N>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1472223808 1799 P>A No gnomAD
rs1158131470 1799 P>L No TOPMed
gnomAD
rs755528503 1803 M>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
gnomAD
rs2052926302 1804 F>I No Ensembl
rs1002696684 1805 W>R No TOPMed
gnomAD
rs981294689 1806 L>F No TOPMed
gnomAD
rs781777103 1806 L>P No ExAC
gnomAD
rs981294689 1806 L>V No TOPMed
gnomAD
rs1310169027 1807 H>Y No gnomAD
rs1349255578 1808 G>W No gnomAD
TCGA novel 1809 I>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 1811 L>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1220428835 1816 Y>C No TOPMed
gnomAD
COSM6130776
COSM6130777
COSM6130778
COSM6130775
1816 Y>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs749474276 1818 T>S No ExAC
TOPMed
gnomAD
rs771250044 1820 D>Y No ExAC
gnomAD
rs1317035766 1821 L>F No gnomAD
rs1375813217 1821 L>P No gnomAD
rs2053138612 1824 H>Y No Ensembl
rs1258200464 1827 A>P No gnomAD
rs1386718843 1827 A>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
TCGA novel 1831 E>A Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs757398673 1831 E>G No ExAC
gnomAD
COSM415403
COSM1645601
COSM1133327
1831 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2053139148 1832 A>E No TOPMed
rs199653498 1834 G>D No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs2053139572 1835 G>S No TOPMed
gnomAD
rs75409041 1840 L>F No Ensembl
rs779910403 1842 P>A No ExAC
TOPMed
gnomAD
rs2053140300
COSM262983
1845 L>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
Ensembl
rs746926247 1846 W>R No ExAC
gnomAD
COSM4847920
COSM4847919
COSM4847918
COSM4847921
1847 D>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1404986261 1848 K>R No gnomAD
rs768706217 1849 N>K No ExAC
gnomAD
rs2053140884 1851 P>S No gnomAD
rs2053140986 1852 M>V No gnomAD
rs1589509469 1853 Y>C No Ensembl
rs1436598076 1855 K>Q No gnomAD
rs1294978179 1855 K>R No gnomAD
rs1325431415 1856 F>L No gnomAD
rs1233710771 1858 P>A No gnomAD
rs1233710771 1858 P>S No gnomAD
rs2053142089 1860 E>Q No TOPMed
gnomAD
rs2053142181 1861 R>K No Ensembl
rs1342857627 1865 S>N No TOPMed
gnomAD
rs1199784194 1865 S>R No TOPMed
gnomAD
rs1262632814 1868 P>S No TOPMed
gnomAD
rs1273582281 1869 A>E No TOPMed
gnomAD
rs184591536 1869 A>S No 1000Genomes
ExAC
gnomAD
rs184591536 1869 A>T No 1000Genomes
ExAC
gnomAD
rs2053143079 1870 V>D No TOPMed
gnomAD
rs1246436636 1870 V>I No TOPMed
gnomAD
rs1234999458 1871 Y>H No TOPMed
rs933902901 1872 S>F No TOPMed
gnomAD
COSM262984 1872 S>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs772943934 1875 I>F No ExAC
gnomAD
rs762686660 1875 I>M No ExAC
gnomAD
COSM3441860
COSM3441861
COSM3441862
1877 S>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1427932815 1881 V>M No TOPMed
gnomAD
rs1171255447 1884 S>G No TOPMed
gnomAD
COSM267190 1886 S>G Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1294956402 1887 M>I No TOPMed
gnomAD
rs2053209579 1887 M>T No TOPMed
rs2053209419 1887 M>V No Ensembl
rs2053209807 1888 G>* No Ensembl
rs759125453 1891 C>S No ExAC
gnomAD
rs2053210252 1891 C>S No Ensembl
rs759125453 1891 C>Y No ExAC
gnomAD
rs2053210462 1892 I>F No TOPMed
gnomAD
rs2053210597 1892 I>T No Ensembl
rs2053210462 1892 I>V No TOPMed
gnomAD
COSM1646357
COSM686033
COSM1146525
1893 E>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2053210766 1893 E>G No Ensembl
rs764467728 1895 D>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
gnomAD
rs374201007 1896 V>I No ESP
TOPMed
gnomAD
rs2053211204 1897 L>V No Ensembl
COSM5192515
COSM1474900
COSM1474899
COSM1474898
1898 G>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1388477579 1899 M>T No TOPMed
rs1302831861 1902 D>N No gnomAD
rs777216538 1903 S>N No ExAC
TOPMed
gnomAD
rs777216538 1903 S>T No ExAC
TOPMed
gnomAD
rs1589512494 1905 H>R No Ensembl
rs974611612 1907 R>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
gnomAD
rs762105530 1907 R>H No ExAC
TOPMed
gnomAD
rs2133639890 1908 T>I No Ensembl
rs765592069 1910 P>L No ExAC
gnomAD
rs1366569206 1912 H>L No gnomAD
rs1357470118 1912 H>Y No gnomAD
TCGA novel 1913 R>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs1589512569 1915 T>A No Ensembl
rs918778336 1915 T>N No Ensembl
rs766637825 1918 P>L No ExAC
gnomAD
rs184071036 1919 M>T No 1000Genomes
ExAC
TOPMed
gnomAD
COSM5765885
rs755120877
COSM5765887
COSM5765884
COSM5765886
1920 W>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
TOPMed
gnomAD
rs1589512617 1920 W>R No Ensembl
rs1564881408
RCV000722696
1922 E>missing No ClinVar
dbSNP
rs780945870 1922 E>K No ExAC
gnomAD
rs748133025 1923 Q>E No ExAC
gnomAD
rs2053214256 1923 Q>P No TOPMed
rs377288149 1927 H>Q No ESP
ExAC
TOPMed
gnomAD
rs2053214462 1927 H>Y No Ensembl
rs1004119938 1929 H>R No TOPMed
rs745313987 1931 E>K No ExAC
TOPMed
gnomAD
rs866123283 1932 D>N No gnomAD
rs866123283 1932 D>Y No gnomAD
rs2053215702 1933 L>P No Ensembl
rs2053215801 1934 V>A No Ensembl
rs1219781383 1935 F>C No gnomAD
COSM4016825
rs1314937548
COSM4016826
COSM4016827
1937 R>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
gnomAD
rs1343115907 1938 F>C No TOPMed
gnomAD
rs1300173316 1940 V>I No TOPMed
rs1245492536 1943 N>D No gnomAD
rs776933870 1943 N>S No ExAC
gnomAD
rs1344794553 1944 N>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
gnomAD
rs376573095 1945 S>T No ESP
ExAC
TOPMed
rs1251254953 1946 S>A No gnomAD
rs1443679422 1949 T>I No gnomAD
rs1305616570 1950 A>S No TOPMed
gnomAD
COSM4853514
COSM4853515
COSM4853513
COSM4853512
1952 R>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2053218042 1958 A>V No TOPMed
COSM4016830
COSM4016828
COSM4016829
rs774196868
1961 R>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
Ensembl
NCI-TCGA
rs369203569 1961 R>Q No ESP
ExAC
TOPMed
gnomAD
rs267602627 1962 G>E No Ensembl
COSM1585195
COSM1585194
COSM921678
1963 Y>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM1970567
RCV000592054
CA5613444
rs775052849
COSM1970566
COSM1970568
1964 R>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No ClinGen
NCI-TCGA Cosmic
ClinVar
ExAC
NCI-TCGA
TOPMed
dbSNP
gnomAD
rs746572025 1964 R>Q No ExAC
TOPMed
gnomAD
rs868033486 1967 Q>* No gnomAD
rs1221249322 1967 Q>R No gnomAD
rs770255322 1969 R>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No 1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1323373118 1969 R>Q No TOPMed
gnomAD
rs1228545577 1971 L>I No gnomAD
rs763259071 1971 L>P No ExAC
gnomAD
rs1009072565 1974 E>* No TOPMed
rs771343639 1975 V>I No ExAC
gnomAD
rs1214596384 1976 L>* No gnomAD
TCGA novel 1977 E>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs764292204 1977 E>G No TOPMed
gnomAD
rs1246888142 1977 E>Q No gnomAD
rs1196943350 1979 S>A No gnomAD
rs774371738 1980 S>G No ExAC
TOPMed
gnomAD
rs1163170205 1980 S>N No gnomAD
rs774371738 1980 S>R No ExAC
TOPMed
gnomAD
COSM1349966
TCGA novel
rs775907880
1982 F>L Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] No NCI-TCGA
cosmic curated
gnomAD
rs1285299068 1983 I>V No TOPMed
COSM1585192
COSM1585193
COSM921679
1984 N>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1160067877 1984 N>Y No TOPMed
gnomAD
rs1399213126 1986 R>G No gnomAD
TCGA novel 1986 R>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1386100747 1987 R>K No TOPMed
gnomAD
rs1317936686 1988 M>I No TOPMed
gnomAD
rs1299023922 1988 M>V No TOPMed
gnomAD
rs868319587 1990 E>K No TOPMed
gnomAD
COSM1744114
rs1350630025
COSM1744115
COSM1744116
1992 S>F biliary_tract Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] No NCI-TCGA Cosmic
cosmic curated
NCI-TCGA
gnomAD
rs1345503411 1994 G>S No gnomAD
rs199968141 1995 N>S No 1000Genomes
ExAC
gnomAD
rs1564883514 1996 T>A No Ensembl
rs1347962803 1997 M>T No TOPMed
gnomAD
rs1222657238 1999 A>P No TOPMed
gnomAD
rs764074119 2001 S>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs750201745 2002 M>V No ExAC
gnomAD
rs200908827 2003 F>L No ExAC
TOPMed
rs2053446778 2005 T>I No TOPMed
rs779637729 2007 E>Q No ExAC
gnomAD
RCV000722980
rs1564887427
2007 E>missing No ClinVar
dbSNP
rs1461617727 2008 R>G No TOPMed
gnomAD
rs1169941611 2010 C>R No TOPMed
gnomAD
rs1169941611 2010 C>S No TOPMed
gnomAD
TCGA novel 2012 Q>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs2053447551 2012 Q>L No Ensembl
rs2053447735
TCGA novel
2015 R>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
rs751230422 2017 T>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs1449777749 2019 H>D No gnomAD
rs1313950181 2019 H>R No gnomAD
rs1365390945 2020 G>A No TOPMed
gnomAD
rs1365390945 2020 G>E No TOPMed
gnomAD
rs552752024 2021 V>I No 1000Genomes
ExAC
TOPMed
gnomAD
COSM3441865
COSM3441863
COSM3441864
2022 P>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1338726854 2024 P>L No gnomAD
rs2053448525 2024 P>S No gnomAD
rs371057938 2025 E>K No ESP
ExAC
TOPMed
gnomAD
rs371057938 2025 E>Q No ESP
ExAC
TOPMed
gnomAD
rs2053448918 2026 P>R No TOPMed
rs2053449093 2027 F>L No Ensembl
rs2053449249 2028 T>A No gnomAD
rs1564887576
RCV000722964
2028 T>A No ClinVar
Ensembl
dbSNP
rs2053449340 2028 T>N No gnomAD
rs779315815 2029 V>I No ExAC
TOPMed
gnomAD
rs1242763794 2031 T>N No gnomAD
rs1242763794 2031 T>S No gnomAD
rs2053450020 2032 I>V No Ensembl
rs377038783 2034 G>A No ESP
ExAC
TOPMed
gnomAD
COSM218286
COSM1159215
COSM3441869
2034 G>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs373598655 2034 G>R No ESP
TOPMed
gnomAD
rs2053450278 2035 G>D No Ensembl
rs370404700 2036 T>I No ESP
ExAC
TOPMed
gnomAD
rs370404700 2036 T>S No ESP
ExAC
TOPMed
gnomAD
rs769056474 2037 K>T No ExAC
gnomAD
rs2053450729 2038 A>E No Ensembl
rs977054750 2040 Q>H No TOPMed
COSM284074 2042 L>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs761840349 2043 Q>H No ExAC
TOPMed
gnomAD
rs2053581498 2045 I>T No Ensembl
rs1310705738 2047 T>A No TOPMed
gnomAD
rs1165287995 2047 T>I No gnomAD
rs769780692 2048 N>H No ExAC
TOPMed
gnomAD
rs1278154640 2048 N>S No TOPMed
rs2053582001 2050 Q>H No Ensembl
rs773139035 2052 I>V No ExAC
gnomAD
rs1393217745 2053 K>E No gnomAD
rs1304944660 2053 K>N No gnomAD
rs202230448 2055 V>A No 1000Genomes
ExAC
TOPMed
gnomAD
rs2053582524 2055 V>L No gnomAD
rs755150417 2056 T>I No ExAC
TOPMed
gnomAD
rs755150417 2056 T>S No ExAC
TOPMed
gnomAD
rs374921875 2057 T>P No ESP
ExAC
TOPMed
gnomAD
rs190025280 2058 D>H No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs190025280 2058 D>N No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs372611082 2058 D>V No ESP
ExAC
TOPMed
gnomAD
rs199907181 2059 Y>C No TOPMed
rs199907181 2059 Y>F No TOPMed
COSM1585191
COSM1585190
COSM921681
2060 F>L Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
TCGA novel 2061 L>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs2053583521 2061 L>F No TOPMed
COSM1585188
COSM921682
COSM1585189
2061 L>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1249180417 2062 M>I No gnomAD
rs373329178 2062 M>K No ExAC
gnomAD
rs373329178 2062 M>T No ExAC
gnomAD
rs1589530536 2062 M>V No Ensembl
rs763507258 2063 E>A No ExAC
gnomAD
rs758950503 2065 K>I No ExAC
gnomAD
TCGA novel 2067 F>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1356269652 2068 I>T No gnomAD
rs780749041 2068 I>V No ExAC
TOPMed
gnomAD
rs751934950 2069 S>C No ExAC
TOPMed
gnomAD
rs755416836 2071 E>G No ExAC
gnomAD
rs748326515 2075 C>G No ExAC
gnomAD
rs748326515 2075 C>R No ExAC
gnomAD
rs1317450115 2075 C>Y No gnomAD
rs2053585135 2076 R>K No TOPMed
rs777703876 2078 Q>H No ExAC
gnomAD
rs1380776200 2078 Q>P No TOPMed
gnomAD
COSM1474903
COSM1474901
COSM1474902
rs1431829778
COSM5192801
2079 P>T Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs2053585792 2083 A>T No Ensembl
COSM1970594
rs774292214
COSM4626704
COSM1970593
COSM1970595
2083 A>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
gnomAD
rs1472589178 2084 I>T No TOPMed
rs1157378517 2084 I>V No TOPMed
gnomAD
TCGA novel 2085 G>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs771764501 2085 G>D No ExAC
gnomAD
rs759265610 2085 G>R No ExAC
gnomAD
rs2053586288 2088 E>K No Ensembl
rs1194855624 2089 E>D No Ensembl
TCGA novel 2089 E>G Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
COSM921683
COSM1585187
COSM1585186
2090 I>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2053586671 2091 M>I No gnomAD
rs1000159715 2091 M>V No TOPMed
gnomAD
rs1204953857 2093 I>T No gnomAD
rs1460594357 2096 S>G No gnomAD
rs1054881333 2097 W>R No Ensembl
rs2053587274 2100 E>K No TOPMed
rs538437231 2104 M>I No 1000Genomes
ExAC
TOPMed
gnomAD
COSM4016833
COSM4016832
COSM4016831
2104 M>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs760229823 2104 M>V No ExAC
TOPMed
gnomAD
rs1349683566 2105 G>A No TOPMed
gnomAD
rs1426476262 2105 G>R No gnomAD
rs753257897 2106 R>K No ExAC
gnomAD
rs375684891 2107 I>T No ESP
ExAC
gnomAD
TCGA novel 2111 T>P Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs755331102 2111 T>P No ExAC
gnomAD
rs781410807 2113 Q>H No ExAC
TOPMed
gnomAD
rs2053588328 2113 Q>R No Ensembl
rs1269879141 2114 E>K No TOPMed
gnomAD
rs2053820935 2116 L>R No Ensembl
COSM1585185
COSM1585184
COSM921684
2118 E>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs908769656 2120 N>S No TOPMed
gnomAD
rs1410521926 2121 I>T No gnomAD
rs1326370481 2123 Q>K No gnomAD
rs1589542824 2124 D>G No Ensembl
TCGA novel 2125 D>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1366618328 2126 K>E No TOPMed
gnomAD
COSM4016836
COSM4016835
COSM4016834
2127 E>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1301849938 2134 E>A No gnomAD
rs758237098 2135 E>G No ExAC
TOPMed
gnomAD
rs758237098 2135 E>V No ExAC
TOPMed
gnomAD
rs1589542917
COSM1585182
COSM921685
COSM1585183
2137 F>L Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
Ensembl
rs763852846 2137 F>S No Ensembl
rs1041719230 2139 V>I No Ensembl
rs2053824617 2140 Q>E No gnomAD
rs1361352223 2143 D>N No gnomAD
rs768511827 2146 P>L No ExAC
rs2053825056 2146 P>S No Ensembl
rs769631306 2150 R>L No ExAC
TOPMed
gnomAD
COSM1585181
rs769631306
COSM1585180
COSM921686
2150 R>Q Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs568921619 2155 A>P No 1000Genomes
ExAC
gnomAD
TCGA novel 2156 P>K Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs1589543032 2156 P>L No Ensembl
rs1386031367 2156 P>T No TOPMed
gnomAD
rs762568769 2157 R>C No ExAC
TOPMed
gnomAD
rs767860128 2157 R>H No ExAC
TOPMed
gnomAD
rs767860128 2157 R>L No ExAC
TOPMed
gnomAD
rs767860128 2157 R>P No ExAC
TOPMed
gnomAD
rs1330358397 2158 V>D No gnomAD
rs200549010
COSM1970621
COSM1970620
COSM1970622
2158 V>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1373181398 2160 T>N No TOPMed
gnomAD
rs1040807562 2161 A>P No TOPMed
RCV000516839
rs1040807562
CA377648579
2161 A>T No ClinGen
ClinVar
TOPMed
dbSNP
rs896930151 2161 A>V No TOPMed
gnomAD
rs773108869 2162 Q>* No Ensembl
rs751179270 2164 V>I No Ensembl
rs1352289869 2165 I>T No TOPMed
gnomAD
rs748007890 2168 T>N No ExAC
gnomAD
rs2053932415 2169 L>S No Ensembl
rs769544936 2170 C>G Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs769544936 2170 C>R No ExAC
TOPMed
gnomAD
rs1268350123 2171 K>N No gnomAD
rs1379889812 2171 K>T No gnomAD
TCGA novel 2172 A>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs2053932804 2172 A>V No gnomAD
TCGA novel 2174 Y>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs1014600774 2174 Y>S No Ensembl
rs373010369 2177 S>C No ESP
rs2053933434 2177 S>T No Ensembl
rs1165674143 2180 S>G No TOPMed
gnomAD
rs1202047514 2180 S>N No TOPMed
gnomAD
rs773797305 2180 S>R No ExAC
TOPMed
gnomAD
rs1202047514 2180 S>T No TOPMed
gnomAD
rs2053933951 2181 N>D No Ensembl
rs776947470 2182 P>L No ExAC
gnomAD
TCGA novel 2182 P>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs200439178 2185 S>R No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs765395358 2186 D>N No ExAC
TOPMed
gnomAD
rs750672164 2187 Y>C No ExAC
gnomAD
rs1176586432 2187 Y>H No gnomAD
rs750672164 2187 Y>S No ExAC
gnomAD
TCGA novel 2189 L>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs2053934798 2190 L>F No TOPMed
gnomAD
COSM3441872
COSM3441871
COSM3441870
2191 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs754922973
COSM1187998
2191 E>V lung [Cosmic] No cosmic curated
ExAC
TOPMed
gnomAD
COSM4016838
COSM4016839
rs1315950279
COSM4016837
2192 E>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
TOPMed
gnomAD
rs2053935078 2194 V>L No Ensembl
rs976045617 2195 K>R No TOPMed
rs2053935425 2197 T>A No TOPMed
rs1405452061 2198 T>N No TOPMed
gnomAD
TCGA novel 2199 N>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1030145372 2203 T>I No Ensembl
rs1030145372 2203 T>N No Ensembl
rs2053936122 2204 T>I No TOPMed
rs2133907640 2205 P>L No Ensembl
rs748963046 2205 P>S No 1000Genomes
ExAC
TOPMed
gnomAD
rs748963046 2205 P>T No 1000Genomes
ExAC
TOPMed
gnomAD
rs778463347 2207 S>C No ExAC
TOPMed
gnomAD
rs369756376 2207 S>T No ESP
rs2053936556 2209 Q>R No gnomAD
rs953372406 2210 R>L No TOPMed
gnomAD
rs953372406 2210 R>P No TOPMed
gnomAD
rs953372406 2210 R>Q No TOPMed
gnomAD
COSM1349968
COSM1349969
COSM1349970
rs1363480647
COSM5166243
2210 R>W Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs1271611192 2211 V>I No TOPMed
gnomAD
rs1271611192 2211 V>L No TOPMed
gnomAD
rs950728556 2213 L>P No TOPMed
rs950728556 2213 L>R No TOPMed
rs373489516 2214 D>H No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
RCV001580282
rs373489516
2214 D>N No ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1032268249 2216 E>K No TOPMed
gnomAD
rs762109366 2219 F>I No ExAC
gnomAD
rs762109366 2219 F>L No ExAC
gnomAD
rs542110825 2227 G>S No Ensembl
COSM4914338
COSM4914339
COSM4914337
COSM4914340
2228 A>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2053937937 2228 A>T No Ensembl
COSM686030
COSM1646355
rs1156639637
COSM1146528
2229 G>E lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] No NCI-TCGA Cosmic
cosmic curated
NCI-TCGA
gnomAD
COSM1646356
COSM1146526
COSM686032
2229 G>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1363563143 2232 I>M No gnomAD
rs766562737 2232 I>T No ExAC
gnomAD
rs751630029 2233 L>V No ExAC
TOPMed
gnomAD
rs1338607117 2234 K>* No TOPMed
gnomAD
rs1336628562 2236 K>E No gnomAD
rs2053938809 2236 K>R No TOPMed
rs2053938900 2237 E>K No TOPMed
rs913291323 2238 Q>R No Ensembl
rs770345226 2241 A>P No ExAC
gnomAD
rs770345226 2241 A>S No ExAC
gnomAD
rs1317588208 2243 R>* No gnomAD
rs1317588208 2243 R>G No gnomAD
rs771149406 2243 R>Q No ExAC
gnomAD
rs1554919219 2246 K>R No Ensembl
rs981543530 2247 K>N No Ensembl
RCV001383386
rs747833630
2248 K>missing No ClinVar
dbSNP
rs774462183 2248 K>R No ExAC
gnomAD
rs2053953964 2249 G>S No Ensembl
rs2053954074 2249 G>V No Ensembl
TCGA novel 2250 I>F Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs767697356 2251 S>Y No ExAC
TOPMed
gnomAD
rs180876175 2253 A>P No 1000Genomes
ExAC
TOPMed
gnomAD
rs180876175 2253 A>S No 1000Genomes
ExAC
TOPMed
gnomAD
rs202032657 2254 S>N No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs2053955066 2256 L>V No TOPMed
rs1589550076 2258 K>N No Ensembl
rs375539976 2258 K>Q No ESP
rs2053955629 2261 K>Q No TOPMed
rs2053955734 2261 K>T No gnomAD
rs2053955838 2263 T>A No gnomAD
rs909411688 2263 T>I No TOPMed
gnomAD
rs1564899669 2264 K>Q No Ensembl
rs1422983924 2266 P>H No TOPMed
gnomAD
rs368314080 2266 P>S No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSM921689
COSM1585176
rs201288761
COSM1585177
2267 R>* Variant assessed as Somatic; HIGH impact. endometrium [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
1000Genomes
NCI-TCGA
rs867054095 2268 G>R No Ensembl
rs1383013974 2268 G>V No gnomAD
rs758113749 2270 T>I No ExAC
gnomAD
rs1453614580 2273 S>P No TOPMed
gnomAD
rs375606039 2274 Q>P No ESP
ExAC
TOPMed
gnomAD
rs1181728731 2275 L>F No TOPMed
gnomAD
rs778177096 2277 T>I No ExAC
gnomAD
rs570419090 2278 S>P No gnomAD
rs1216315721 2279 E>G No gnomAD
rs1256842157 2280 S>C No gnomAD
rs1256842157 2280 S>G No gnomAD
rs1197510732 2280 S>N No TOPMed
gnomAD
rs2053958362 2280 S>R No Ensembl
rs1323861374 2281 I>T No gnomAD
rs749619246 2282 Q>K No ExAC
gnomAD
rs771218413 2284 K>E No ExAC
rs2053958900 2284 K>N No TOPMed
rs771540823 2285 E>G No ExAC
TOPMed
gnomAD
rs1235337295 2285 E>K No gnomAD
rs1051484226 2286 E>G No Ensembl
TCGA novel 2286 E>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs571727623 2288 P>S No 1000Genomes
ExAC
TOPMed
gnomAD
rs2053959551 2290 G>S No TOPMed
rs772739339 2290 G>V No TOPMed
gnomAD
rs772469423 2291 G>A No ExAC
TOPMed
gnomAD
rs760867173 2292 L>M No ExAC
gnomAD
rs2053960028 2293 S>C No TOPMed
gnomAD
rs1309552948 2295 S>N No TOPMed
gnomAD
rs1309552948 2295 S>T No TOPMed
gnomAD
rs1178874455 2296 D>N No gnomAD
rs2053960235 2297 T>A No TOPMed
TCGA novel 2297 T>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs764042919 2297 T>K No ExAC
gnomAD
TCGA novel 2299 D>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs2133916064 2300 Y>D No Ensembl
rs776445270 2301 R>L No ExAC
TOPMed
gnomAD
rs776445270 2301 R>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs2133916226 2303 Q>W No Ensembl

No associated diseases with Q9P212

4 regional properties for Q9P212

Type Name Position InterPro Accession
domain Protein kinase domain 30 - 281 IPR000719
domain SARAH domain 433 - 480 IPR011524
binding_site Protein kinase, ATP binding site 36 - 59 IPR017441
domain Mst1 SARAH domain 433 - 480 IPR024205

Functions

Description
EC Number 3.1.4.11 Phosphoric diester hydrolases
Subcellular Localization
  • Cytoplasm, cytosol
  • Cell membrane
  • Golgi apparatus membrane
  • Cell projection, lamellipodium
  • Recruited to plasma membrane by activated HRAS and RAP2
  • Recruited to perinuclear membrane by activated RAP1A
  • Isoform 1 and isoform 2 associates with Golgi membranes
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

4 GO annotations of cellular component

Name Definition
cytosol The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
Golgi membrane The lipid bilayer surrounding any of the compartments of the Golgi apparatus.
lamellipodium A thin sheetlike process extended by the leading edge of a migrating cell or extending cell process; contains a dense meshwork of actin filaments.
plasma membrane The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

6 GO annotations of molecular function

Name Definition
enzyme binding Binding to an enzyme, a protein with catalytic activity.
guanyl-nucleotide exchange factor activity Stimulates the exchange of GDP to GTP on a signaling GTPase, changing its conformation to its active form. Guanine nucleotide exchange factors (GEFs) act by stimulating the release of guanosine diphosphate (GDP) to allow binding of guanosine triphosphate (GTP), which is more abundant in the cell under normal cellular physiological conditions.
metal ion binding Binding to a metal ion.
phosphatidylinositol phospholipase C activity Catalysis of the reaction
phospholipase C activity Catalysis of the reaction
small GTPase binding Binding to a small monomeric GTPase.

13 GO annotations of biological process

Name Definition
calcium-mediated signaling Any intracellular signal transduction in which the signal is passed on within the cell via calcium ions.
diacylglycerol biosynthetic process The chemical reactions and pathways resulting in the formation of diacylglycerol, a glyceride in which any two of the R groups (positions not specified) are acyl groups while the remaining R group can be either H or an alkyl group.
epidermal growth factor receptor signaling pathway The series of molecular signals initiated by binding of a ligand to the tyrosine kinase receptor EGFR (ERBB1) on the surface of a cell. The pathway ends with regulation of a downstream cellular process, e.g. transcription.
G protein-coupled receptor signaling pathway The series of molecular signals initiated by a ligand binding to its receptor, in which the activated receptor promotes the exchange of GDP for GTP on the alpha-subunit of an associated heterotrimeric G-protein complex. The GTP-bound activated alpha-G-protein then dissociates from the beta- and gamma-subunits to further transmit the signal within the cell. The pathway begins with receptor-ligand interaction, and ends with regulation of a downstream cellular process. The pathway can start from the plasma membrane, Golgi or nuclear membrane.
glomerulus development The progression of the glomerulus over time from its initial formation until its mature state. The glomerulus is a capillary tuft which forms a close network with the visceral epithelium (podocytes) and the mesangium to form the filtration barrier and is surrounded by Bowman's capsule in nephrons of the vertebrate kidney. The glomerulus is part of the nephron and is restricted to one body segment.
intracellular signal transduction The process in which a signal is passed on to downstream components within the cell, which become activated themselves to further propagate the signal and finally trigger a change in the function or state of the cell.
lipid catabolic process The chemical reactions and pathways resulting in the breakdown of lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent.
phosphatidylinositol metabolic process The chemical reactions and pathways involving phosphatidylinositol, any glycophospholipid in which a sn-glycerol 3-phosphate residue is esterified to the 1-hydroxyl group of 1D-myo-inositol.
phosphatidylinositol-mediated signaling The series of molecular signals in which a cell uses a phosphatidylinositol-mediated signaling to convert a signal into a response. Phosphatidylinositols include phosphatidylinositol (PtdIns) and its phosphorylated derivatives.
phospholipase C-activating G protein-coupled receptor signaling pathway A G protein-coupled receptor signaling pathway in which the signal is transmitted via the activation of phospholipase C (PLC) and a subsequent increase in the intracellular concentration of inositol trisphosphate (IP3) and diacylglycerol (DAG).
positive regulation of lamellipodium assembly Any process that increases the rate, frequency or extent of the formation of a lamellipodium, a thin sheetlike extension of the surface of a migrating cell.
Ras protein signal transduction The series of molecular signals within the cell that are mediated by a member of the Ras superfamily of proteins switching to a GTP-bound active state.
release of sequestered calcium ion into cytosol The process in which calcium ions sequestered in the endoplasmic reticulum, Golgi apparatus or mitochondria are released into the cytosolic compartment.

31 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
P32383 PLC1 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase 1 Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) PR
Q1RML2 PLCZ1 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase zeta-1 Bos taurus (Bovine) PR
P10895 PLCD1 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-1 Bos taurus (Bovine) SS
Q2VRL0 PLCZ1 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase zeta-1 Gallus gallus (Chicken) PR
Q15111 PLCL1 Inactive phospholipase C-like protein 1 Homo sapiens (Human) PR
Q9UPR0 PLCL2 Inactive phospholipase C-like protein 2 Homo sapiens (Human) PR
Q86YW0 PLCZ1 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase zeta-1 Homo sapiens (Human) PR
Q8N3E9 PLCD3 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-3 Homo sapiens (Human) SS
Q9BRC7 PLCD4 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-4 Homo sapiens (Human) SS
P16885 PLCG2 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-2 Homo sapiens (Human) SS
P19174 PLCG1 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-1 Homo sapiens (Human) EV
Q00722 PLCB2 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-2 Homo sapiens (Human) EV
Q01970 PLCB3 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-3 Homo sapiens (Human) EV
Q9NQ66 PLCB1 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-1 Homo sapiens (Human) EV
P51178 PLCD1 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-1 Homo sapiens (Human) EV
Q15147 PLCB4 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-4 Homo sapiens (Human) PR
Q8R3B1 Plcd1 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-1 Mus musculus (Mouse) SS
Q8K394 Plcl2 Inactive phospholipase C-like protein 2 Mus musculus (Mouse) PR
Q8K2J0 Plcd3 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-3 Mus musculus (Mouse) PR
Q8K4S1 Plce1 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1 Mus musculus (Mouse) SS
Q7YRU3 PLCZ 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase zeta-1 Sus scrofa (Pig) PR
P10688 Plcd1 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-1 Rattus norvegicus (Rat) SS
Q99P84 Plce1 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1 Rattus norvegicus (Rat) EV
Q8GV43 PLC6 Phosphoinositide phospholipase C 6 Arabidopsis thaliana (Mouse-ear cress) PR
Q944C2 PLC5 Phosphoinositide phospholipase C 5 Arabidopsis thaliana (Mouse-ear cress) PR
Q6NMA7 PLC9 Phosphoinositide phospholipase C 9 Arabidopsis thaliana (Mouse-ear cress) PR
Q9STZ3 PLC8 Phosphoinositide phospholipase C 8 Arabidopsis thaliana (Mouse-ear cress) PR
Q56W08 PLC3 Phosphoinositide phospholipase C 3 Arabidopsis thaliana (Mouse-ear cress) PR
Q39032 PLC1 Phosphoinositide phospholipase C 1 Arabidopsis thaliana (Mouse-ear cress) PR
Q944C1 PLC4 Phosphoinositide phospholipase C 4 Arabidopsis thaliana (Mouse-ear cress) PR
A5D6R3 plcd3a 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-3-A Danio rerio (Zebrafish) (Brachydanio rerio) PR
10 20 30 40 50 60
MTSEEMTASV LIPVTQRKVV SAQSAADESS EKVSDINISK AHTVRRSGET SHTISQLNKL
70 80 90 100 110 120
KEEPSGSNLP KILSIAREKI VSDENSNEKC WEKIMPDSAK NLNINCNNIL RNHQHGLPQR
130 140 150 160 170 180
QFYEMYNSVA EEDLCLETGI PSPLERKVFP GIQLELDRPS MGISPLGNQS VIIETGRAHP
190 200 210 220 230 240
DSRRAVFHFH YEVDRRMSDT FCTLSENLIL DDCGNCVPLP GGEEKQKKNY VAYTCKLMEL
250 260 270 280 290 300
AKNCDNKNEQ LQCDHCDTLN DKYFCFEGSC EKVDMVYSGD SFCRKDFTDS QAAKTFLSHF
310 320 330 340 350 360
EDFPDNCDDV EEDAFKSKKE RSTLLVRRFC KNDREVKKSV YTGTRAIVRT LPSGHIGLTA
370 380 390 400 410 420
WSYIDQKRNG PLLPCGRVME PPSTVEIRQD GSQRLSEAQW YPIYNAVRRE ETENTVGSLL
430 440 450 460 470 480
HFLTKLPASE TAHGRISVGP CLKQCVRDTV CEYRATLQRT SISQYITGSL LEATTSLGAR
490 500 510 520 530 540
SGLLSTFGGS TGRMMLKERQ PGPSVANSNA LPSSSAGISK ELIDLQPLIQ FPEEVASILM
550 560 570 580 590 600
EQEQTIYRRV LPVDYLCFLT RDLGTPECQS SLPCLKASIS ASILTTQNGE HNALEDLVMR
610 620 630 640 650 660
FNEVSSWVTW LILTAGSMEE KREVFSYLVH VAKCCWNMGN YNAVMEFLAG LRSRKVLKMW
670 680 690 700 710 720
QFMDQSDIET MRSLKDAMAQ HESSCEYRKV VTRALHIPGC KVVPFCGVFL KELCEVLDGA
730 740 750 760 770 780
SGLMKLCPRY NSQEETLEFV ADYSGQDNFL QRVGQNGLKN SEKESTVNSI FQVIRSCNRS
790 800 810 820 830 840
LETDEEDSPS EGNSSRKSSL KDKSRWQFII GDLLDSDNDI FEQSKEYDSH GSEDSQKAFD
850 860 870 880 890 900
HGTELIPWYV LSIQADVHQF LLQGATVIHY DQDTHLSARC FLQLQPDNST LTWVKPTTAS
910 920 930 940 950 960
PASSKAKLGV LNNTAEPGKF PLLGNAGLSS LTEGVLDLFA VKAVYMGHPG IDIHTVCVQN
970 980 990 1000 1010 1020
KLGSMFLSET GVTLLYGLQT TDNRLLHFVA PKHTAKMLFS GLLELTRAVR KMRKFPDQRQ
1030 1040 1050 1060 1070 1080
QWLRKQYVSL YQEDGRYEGP TLAHAVELFG GRRWSARNPS PGTSAKNAEK PNMQRNNTLG
1090 1100 1110 1120 1130 1140
ISTTKKKKKI LMRGESGEVT DDEMATRKAK MHKECRSRSG SDPQDINEQE ESEVNAIANP
1150 1160 1170 1180 1190 1200
PNPLPSRRAH SLTTAGSPNL AAGTSSPIRP VSSPVLSSSN KSPSSAWSSS SWHGRIKGGM
1210 1220 1230 1240 1250 1260
KGFQSFMVSD SNMSFVEFVE LFKSFSVRSR KDLKDLFDVY AVPCNRSGSE SAPLYTNLTI
1270 1280 1290 1300 1310 1320
DENTSDLQPD LDLLTRNVSD LGLFIKSKQQ LSDNQRQISD AIAAASIVTN GTGIESTSLG
1330 1340 1350 1360 1370 1380
IFGVGILQLN DFLVNCQGEH CTYDEILSII QKFEPSISMC HQGLMSFEGF ARFLMDKENF
1390 1400 1410 1420 1430 1440
ASKNDESQEN IKELQLPLSY YYIESSHNTY LTGHQLKGES SVELYSQVLL QGCRSVELDC
1450 1460 1470 1480 1490 1500
WDGDDGMPII YHGHTLTTKI PFKEVVEAID RSAFINSDLP IIISIENHCS LPQQRKMAEI
1510 1520 1530 1540 1550 1560
FKTVFGEKLV TKFLFETDFS DDPMLPSPDQ LRKKVLLKNK KLKAHQTPVD ILKQKAHQLA
1570 1580 1590 1600 1610 1620
SMQVQAYNGG NANPRPANNE EEEDEEDEYD YDYESLSDDN ILEDRPENKS CNDKLQFEYN
1630 1640 1650 1660 1670 1680
EEIPKRIKKA DNSACNKGKV YDMELGEEFY LDQNKKESRQ IAPELSDLVI YCQAVKFPGL
1690 1700 1710 1720 1730 1740
STLNASGSSR GKERKSRKSI FGNNPGRMSP GETASFNKTS GKSSCEGIRQ TWEESSSPLN
1750 1760 1770 1780 1790 1800
PTTSLSAIIR TPKCYHISSL NENAAKRLCR RYSQKLTQHT ACQLLRTYPA ATRIDSSNPN
1810 1820 1830 1840 1850 1860
PLMFWLHGIQ LVALNYQTDD LPLHLNAAMF EANGGCGYVL KPPVLWDKNC PMYQKFSPLE
1870 1880 1890 1900 1910 1920
RDLDSMDPAV YSLTIVSGQN VCPSNSMGSP CIEVDVLGMP LDSCHFRTKP IHRNTLNPMW
1930 1940 1950 1960 1970 1980
NEQFLFHVHF EDLVFLRFAV VENNSSAVTA QRIIPLKALK RGYRHLQLRN LHNEVLEISS
1990 2000 2010 2020 2030 2040
LFINSRRMEE NSSGNTMSAS SMFNTEERKC LQTHRVTVHG VPGPEPFTVF TINGGTKAKQ
2050 2060 2070 2080 2090 2100
LLQQILTNEQ DIKPVTTDYF LMEEKYFISK EKNECRKQPF QRAIGPEEEI MQILSSWFPE
2110 2120 2130 2140 2150 2160
EGYMGRIVLK TQQENLEEKN IVQDDKEVIL SSEEESFFVQ VHDVSPEQPR TVIKAPRVST
2170 2180 2190 2200 2210 2220
AQDVIQQTLC KAKYSYSILS NPNPSDYVLL EEVVKDTTNK KTTTPKSSQR VLLDQECVFQ
2230 2240 2250 2260 2270 2280
AQSKWKGAGK FILKLKEQVQ ASREDKKKGI SFASELKKLT KSTKQPRGLT SPSQLLTSES
2290 2300
IQTKEEKPVG GLSSSDTMDY RQ