Descriptions

Myosin-7 (MYH7, also named Myosin heavy chain, cardiac muscle β isoform) is an actin-based motor molecule with ATPase activity essential for muscle contraction. Several mutations in MYH7 are frequent causes of hypertrophic cardiomyopathy (HCM), a disease characterized by hypercontractility and eventual hypertrophy of the left ventricle. Many HCM-causing mutations appear to reduce myosin's ability to form an autoinhibited state. In an autoinhibited state, the myosin heads fold back onto their own subfragment 2 (S2) tail in a conformation known as the interacting heads motif (IHM). One of the two heads in the dimer has its actin-binding interface buried in the folded structure; this head is referred to as the blocked head, while the other is called the free head, since its actin-binding interface is not hidden structurally. Many myosin types have the folded back IHM structure. The IHM structure correlates to an ultra-low basal ATPase rate in the absence of an action called the 'super relaxed state'. Heads lacking the S2 tail mostly have a faster basal ATPase rate referred to as the 'disordered relaxed state'. Especially, mutations in the myosin lever arm or the pliant region of the lever arm can affect myosin function either by altering its intrinsic motor activity, and/or reducing its ability to form the autoinhibited state.

Autoinhibitory domains (AIDs)

Target domain

80-783 (Myosin head, motor domain)

Relief mechanism

Partner binding

Assay

Accessory elements

No accessory elements

Autoinhibited structure

Activated structure

1 structures for Q9UKX3

Entry ID Method Resolution Chain Position Source
AF-Q9UKX3-F1 Predicted AlphaFoldDB

1740 variants for Q9UKX3

Variant ID(s) Position Change Description Diseaes Association Provenance
CA8386904
rs779799056
2 S>N No ClinGen
ExAC
gnomAD
CA8386900
CA8386899
rs34042358
4 D>E No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA398116983
rs1432617524
4 D>N No ClinGen
TOPMed
rs777976810
CA8386898
5 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA398116795
rs1257496548
9 I>S No ClinGen
gnomAD
rs756301490
CA8386897
12 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs919807102
CA287745700
13 A>E No ClinGen
TOPMed
CA398116662
rs1347862940
13 A>S No ClinGen
TOPMed
rs1288667879
CA398116590
14 A>D No ClinGen
TOPMed
rs1482337210
CA398116545
15 P>L No ClinGen
gnomAD
rs267604695
CA8386894
16 Y>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8386896
rs376730859
16 Y>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs758069349
CA8386893
17 L>F No ClinGen
ExAC
gnomAD
CA398116469
rs1311955222
18 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA8386892
rs369838383
18 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1160212113
CA398116297
23 E>V No ClinGen
TOPMed
CA8386889
rs776603506
25 I>M No ClinGen
ExAC
TOPMed
gnomAD
rs1358232081
CA398116178
26 E>A No ClinGen
gnomAD
CA8386887
rs760267642
26 E>D No ClinGen
ExAC
TOPMed
gnomAD
CA8386888
rs763567078
26 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA8386885
rs375914636
27 A>G No ClinGen
ESP
ExAC
gnomAD
CA8386886
rs774959218
27 A>P No ClinGen
ExAC
gnomAD
rs375914636
CA398116113
27 A>V No ClinGen
ESP
ExAC
gnomAD
CA398116108
rs1187515660
28 Q>K No ClinGen
gnomAD
rs1422563864
CA398116060
29 N>S No ClinGen
gnomAD
rs780968912
CA398116041
30 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs780968912
CA287745608
30 R>G No ClinGen
TOPMed
gnomAD
CA8386884
rs746153983
30 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA398116023
rs1487965855
31 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs369233539
COSM3387698
CA8386880
33 D>N pancreas [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
rs369233539
CA8386881
33 D>Y No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8386879
rs756096111
34 S>T No ClinGen
ExAC
gnomAD
rs1242589341
CA398115945
35 K>E No ClinGen
gnomAD
TCGA novel 37 A>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA398115881
rs1342288391
37 A>V No ClinGen
gnomAD
CA398115802
rs1337701829
40 V>E No ClinGen
gnomAD
CA8386876
rs200562850
41 A>E No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs200562850
CA8386877
41 A>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs757087427
CA8386873
43 N>K No ClinGen
ExAC
gnomAD
CA398115703
rs1204551814
46 M>I No ClinGen
gnomAD
rs1214366728
CA398115709
46 M>T No ClinGen
TOPMed
CA398115692
rs764044447
47 Y>C No ClinGen
ExAC
TOPMed
gnomAD
CA8386871
rs764044447
47 Y>F No ClinGen
ExAC
TOPMed
gnomAD
CA8386872
rs753737467
47 Y>H No ClinGen
ExAC
gnomAD
CA8386870
rs201528492
50 G>A No ClinGen
ExAC
TOPMed
gnomAD
rs201528492
CA8386869
50 G>V No ClinGen
ExAC
TOPMed
gnomAD
CA398115633
rs1269526818
51 M>I No ClinGen
gnomAD
rs767003404
CA8386868
52 I>T No ClinGen
ExAC
TOPMed
gnomAD
CA8386866
rs774186622
55 R>G No ClinGen
ExAC
gnomAD
CA398115582
rs1597390469
55 R>K No ClinGen
Ensembl
CA8386864
rs749692050
56 E>Q No ClinGen
ExAC
gnomAD
CA287745507
rs544749229
57 N>T No ClinGen
Ensembl
CA398115530
rs1315574147
58 D>E No ClinGen
gnomAD
rs1217892977
CA398115542
58 D>H No ClinGen
TOPMed
gnomAD
rs1217892977
CA398115539
58 D>N No ClinGen
TOPMed
gnomAD
TCGA novel 58 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8386862
rs150764122
59 K>E No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs766853069
CA8386860
60 V>F No ClinGen
TOPMed
gnomAD
rs766853069
CA8386859
60 V>I No ClinGen
TOPMed
gnomAD
CA398115499
rs376720984
61 I>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8386858
rs376720984
61 I>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA398115485
rs1321103440
62 V>A No ClinGen
gnomAD
rs781315845
CA398115463
64 T>I No ClinGen
ExAC
TOPMed
gnomAD
rs781315845
CA8386857
64 T>N No ClinGen
ExAC
TOPMed
gnomAD
CA8386855
rs747205288
66 D>E No ClinGen
ExAC
TOPMed
gnomAD
rs755058556
CA398115440
66 D>H No ClinGen
ExAC
gnomAD
rs755058556
CA8386856
66 D>N No ClinGen
ExAC
gnomAD
TCGA novel 66 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA287745447
rs1044104439
67 D>H No ClinGen
Ensembl
rs372048764
CA8386854
68 R>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs375506104
CA8386852
68 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
gnomAD
rs372048764
CA8386853
68 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1239888821
CA398114360
75 D>N No ClinGen
gnomAD
rs894490314
CA287744427
75 D>V No ClinGen
Ensembl
TCGA novel 76 Q>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs754477807
CA8386828
76 Q>R No ClinGen
ExAC
gnomAD
CA398114293
rs1567673321
77 V>I No ClinGen
Ensembl
CA287744423
rs1056173087
CA398114243
78 F>L No ClinGen
gnomAD
rs766050837
CA8386826
79 P>L No ClinGen
ExAC
gnomAD
CA8386827
rs766050837
79 P>R No ClinGen
ExAC
gnomAD
CA8386825
rs762678417
80 M>R No ClinGen
ExAC
gnomAD
CA398114162
rs750087816
81 N>K No ClinGen
ExAC
TOPMed
gnomAD
CA287744408
rs150555511
COSM109338
81 N>S skin [Cosmic] No ClinGen
cosmic curated
Ensembl
rs1421826345
CA398114148
82 P>H No ClinGen
gnomAD
CA398114154
rs1460988063
82 P>S No ClinGen
TOPMed
gnomAD
CA398114131
rs1361418395
COSM334043
83 P>L lung [Cosmic] No ClinGen
cosmic curated
gnomAD
rs377375716
CA8386821
87 K>Q No ClinGen
ESP
ExAC
rs1361268933
CA398113978
89 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
TCGA novel 90 D>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs760684375
CA8386819
91 M>I No ClinGen
ExAC
gnomAD
rs1182419480
CA398113873
91 M>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA8386818
rs775545108
92 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA8386817
rs772199350
92 A>V No ClinGen
ExAC
gnomAD
TCGA novel 93 M>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1284888839
CA398113800
93 M>L No ClinGen
gnomAD
rs377107709
CA8386816
93 M>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8386815
rs779045374
94 M>I No ClinGen
ExAC
TOPMed
gnomAD
CA8386814
rs775362642
95 T>I No ClinGen
ExAC
TOPMed
gnomAD
rs1356256540
CA398113681
CA398113684
96 H>Q No ClinGen
TOPMed
gnomAD
rs372871117
CA8386813
96 H>Y No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8386812
rs781116210
98 H>N No ClinGen
ExAC
gnomAD
CA398113628
rs1401937312
98 H>R No ClinGen
gnomAD
CA8386811
rs754959075
99 E>Q No ClinGen
ExAC
gnomAD
rs746998335
CA8386810
100 P>A No ClinGen
ExAC
gnomAD
CA398113540
rs1351456859
100 P>L No ClinGen
gnomAD
CA398113472
rs779684078
102 V>I No ClinGen
ExAC
gnomAD
CA8386809
rs779684078
102 V>L No ClinGen
ExAC
gnomAD
rs145355767
CA8386808
104 Y>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA398113415
rs145355767
104 Y>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA398113387
rs1374691581
105 N>S No ClinGen
TOPMed
CA8386806
rs200117357
109 R>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA8386805
rs553455567
COSM1216151
109 R>H large_intestine [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
CA8386807
rs200117357
109 R>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA287744261
rs1025088372
113 W>* No ClinGen
TOPMed
gnomAD
CA8386802
rs764511154
113 W>* No ClinGen
ExAC
gnomAD
CA398113173
rs764511154
113 W>C No ClinGen
ExAC
gnomAD
rs1173864946
CA398113197
113 W>R No ClinGen
TOPMed
rs761158793
CA8386801
115 I>F No ClinGen
ExAC
gnomAD
rs776025803
CA8386800
115 I>M No ClinGen
ExAC
gnomAD
rs767555564 116 Y>= Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
rs778563809
CA8386788
117 T>A No ClinGen
ExAC
gnomAD
CA287744212
rs1024395237
117 T>N No ClinGen
Ensembl
CA398112999
rs778563809
117 T>P No ClinGen
ExAC
gnomAD
CA398112915
rs756858193
120 G>A No ClinGen
ExAC
TOPMed
gnomAD
CA398112918
rs756858193
120 G>D No ClinGen
ExAC
TOPMed
gnomAD
CA8386787
rs756858193
120 G>V No ClinGen
ExAC
TOPMed
gnomAD
rs1201130211
CA398112890
121 L>F Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA8386785
rs764421511
122 F>L No ClinGen
ExAC
TOPMed
gnomAD
CA398112834
rs1202538475
123 C>G No ClinGen
gnomAD
rs1202538475
CA398112837
123 C>R No ClinGen
gnomAD
rs753163138
CA8386783
123 C>W No ClinGen
ExAC
gnomAD
rs768024485
CA8386782
125 T>I No ClinGen
ExAC
TOPMed
gnomAD
rs1597389896
CA398112801
125 T>P No ClinGen
Ensembl
CA8386779
rs200689405
126 V>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA8386780
rs373255762
126 V>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA398112741
rs1597389892
127 N>T No ClinGen
Ensembl
CA398112722
rs1396069386
128 P>H No ClinGen
gnomAD
rs1026018811
CA287744173
128 P>S No ClinGen
Ensembl
CA8386778
rs560403896
129 Y>H No ClinGen
1000Genomes
ExAC
gnomAD
CA8386777
rs773604447
130 K>R No ClinGen
ExAC
gnomAD
rs746826498
CA8386775
133 P>A No ClinGen
ExAC
gnomAD
CA8386774
rs200502786
133 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs746826498
CA398112650
133 P>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA8386770
rs770526034
134 V>A No ClinGen
ExAC
TOPMed
gnomAD
CA8386771
rs770526034
134 V>E No ClinGen
ExAC
TOPMed
gnomAD
CA398112629
rs770526034
134 V>G No ClinGen
ExAC
TOPMed
gnomAD
CA8386772
rs745887043
134 V>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA8386768
rs748861785
135 Y>C No ClinGen
ExAC
gnomAD
CA8386766
rs753064696
138 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs753064696
CA8386765
138 E>Q No ClinGen
ExAC
gnomAD
rs1597389870
CA398112553
139 V>G No ClinGen
Ensembl
CA398112542
rs1597389866
140 V>G No ClinGen
Ensembl
CA398112525
rs1453234317
141 A>V No ClinGen
gnomAD
CA398112523
rs1469808301
142 A>D No ClinGen
TOPMed
CA8386763
rs200552178
142 A>P No ClinGen
ExAC
TOPMed
gnomAD
rs200552178
CA8386764
142 A>S No ClinGen
ExAC
TOPMed
gnomAD
rs368632087
CA8386762
143 Y>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8386761
rs766335653
146 K>Q No ClinGen
ExAC
gnomAD
rs367783054
CA8386760
COSM1380730
148 R>C Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs202246911
CA8386759
148 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs202246911
CA398112423
148 R>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA398112404
rs1203380494
149 Q>R No ClinGen
gnomAD
rs879121773
CA287744076
151 A>G No ClinGen
gnomAD
rs775424015
CA8386756
151 A>S No ClinGen
ExAC
gnomAD
CA398112348
rs879121773
151 A>V No ClinGen
gnomAD
rs370603078
COSM269660
CA8386755
152 P>L large_intestine [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs774388872
CA8386753
153 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs1432555412
CA398112284
157 S>P No ClinGen
gnomAD
CA8386751
rs748820351
161 N>S No ClinGen
ExAC
gnomAD
CA398112230
rs1420723075
162 A>T No ClinGen
TOPMed
gnomAD
CA8386750
rs565318480
163 Y>C No ClinGen
1000Genomes
ExAC
gnomAD
CA287744038
rs373267076
164 Q>R No ClinGen
ESP
TOPMed
rs762116808
CA8386739
169 D>G No ClinGen
ExAC
gnomAD
rs527748477
COSM975168
CA8386737
170 R>* Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
NCI-TCGA
gnomAD
rs527748477
CA8386738
170 R>G No ClinGen
1000Genomes
ExAC
gnomAD
CA8386736
rs759408071
170 R>Q No ClinGen
ExAC
gnomAD
rs766342832
CA8386734
178 T>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs774107996
CA8386735
178 T>P No ClinGen
ExAC
gnomAD
CA8386716
TCGA novel
rs201449968
179 G>R Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
NCI-TCGA
CA8386715
rs762854632
180 E>K No ClinGen
ExAC
gnomAD
rs773173964
CA8386714
181 S>Y Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs373315937
COSM1380726
CA287742911
182 G>R Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
NCI-TCGA
TOPMed
gnomAD
rs761332352
CA8386712
187 V>A No ClinGen
ExAC
gnomAD
CA8386710
rs776086111
189 T>I No ClinGen
ExAC
gnomAD
CA8386709
rs369304707
191 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs746709351
CA8386708
191 R>H No ClinGen
ExAC
gnomAD
CA398110988
rs1179651135
192 V>I No ClinGen
gnomAD
CA287742901
rs940194417
194 Q>R Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs996957478
CA287742899
196 F>S No ClinGen
gnomAD
CA8386707
rs369031834
199 I>F No ClinGen
ExAC
TOPMed
gnomAD
rs369031834
CA8386706
199 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA398110793
rs1238009041
200 A>E No ClinGen
TOPMed
rs372245602
CA8386703
203 G>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8386704
rs779595380
203 G>R No ClinGen
ExAC
TOPMed
gnomAD
CA8386701
rs777781230
204 D>V No ClinGen
ExAC
gnomAD
rs1310917259
CA398110732
206 K>R No ClinGen
gnomAD
rs1180950374
CA398110714
207 K>R No ClinGen
gnomAD
rs752910620
CA8386699
208 E>K No ClinGen
ExAC
CA8386698
rs766166284
209 T>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA398110597
rs1277671208
214 M>T No ClinGen
gnomAD
CA8386695
rs765170513
214 M>V No ClinGen
ExAC
gnomAD
rs761244224
CA8386694
215 Q>* No ClinGen
ExAC
TOPMed
gnomAD
rs951790879
CA287742847
215 Q>R No ClinGen
TOPMed
rs1026008896
CA398109892
217 T>I No ClinGen
TOPMed
rs1026008896
CA287741816
217 T>N No ClinGen
TOPMed
CA398109886
rs1244910244
218 L>V No ClinGen
TOPMed
CA398109805
rs1311334545
221 Q>* No ClinGen
gnomAD
rs1345631710
CA398109770
223 I>F No ClinGen
gnomAD
CA287741804
rs376655371
224 Q>* No ClinGen
ESP
TOPMed
gnomAD
rs376655371
CA398109746
224 Q>E No ClinGen
ESP
TOPMed
gnomAD
rs778748951
CA8386675
225 A>D No ClinGen
ExAC
gnomAD
CA287741802
rs898339849
225 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs778748951
CA398109714
225 A>V No ClinGen
ExAC
gnomAD
CA8386674
rs757208790
226 N>S No ClinGen
ExAC
gnomAD
rs1038166078
CA287741787
227 P>L No ClinGen
TOPMed
rs1236635102
CA398109651
230 E>Q No ClinGen
TOPMed
CA398109561
rs1446472205
235 A>P No ClinGen
TOPMed
CA287741776
rs959635659
236 K>T No ClinGen
TOPMed
rs187253561
CA8386670
237 T>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1241088005
CA398109495
238 V>A No ClinGen
gnomAD
CA398109503
rs1169641782
238 V>L No ClinGen
TOPMed
CA398109506
rs1169641782
238 V>M No ClinGen
TOPMed
CA287741753
rs889902107
241 D>G No ClinGen
TOPMed
gnomAD
rs1464948975
CA398109436
242 N>S No ClinGen
TOPMed
CA398109414
rs1328807284
244 S>L No ClinGen
TOPMed
CA398109405
rs1384582173
245 R>G No ClinGen
TOPMed
rs759914769
CA8386667
245 R>K No ClinGen
ExAC
gnomAD
rs564290298
CA8386652
247 G>E No ClinGen
ExAC
TOPMed
gnomAD
rs755593626
CA8386653
247 G>W No ClinGen
ExAC
TCGA novel 248 K>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA287740569
rs181172997
249 F>V No ClinGen
1000Genomes
TOPMed
gnomAD
CA398108767
rs762057006
250 I>N No ClinGen
TOPMed
gnomAD
CA287740560
rs762057006
250 I>T No ClinGen
TOPMed
gnomAD
rs533758694
CA8386649
251 R>P No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs533758694
COSM276206
CA8386650
251 R>Q Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs555493153
CA398108751
251 R>W No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA398108740
rs1167941950
252 I>V No ClinGen
gnomAD
TCGA novel 253 H>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs763248621
CA8386647
254 F>L No ClinGen
ExAC
gnomAD
rs766724928
CA8386648
254 F>S No ClinGen
ExAC
gnomAD
rs1194660196
CA398108631
255 G>E No ClinGen
gnomAD
rs34416201
CA8386646
257 T>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs762446282
CA8386644
261 A>S No ClinGen
ExAC
gnomAD
rs762446282
CA398108521
261 A>T No ClinGen
ExAC
gnomAD
rs768776843
CA8386642
262 S>L No ClinGen
ExAC
TOPMed
gnomAD
CA8386643
rs776681429
262 S>T No ClinGen
ExAC
TOPMed
gnomAD
CA8386640
rs775725161
264 D>N No ClinGen
ExAC
gnomAD
rs770711988
CA287740527
265 I>M No ClinGen
ExAC
TOPMed
gnomAD
rs201854489
CA398108452
266 E>* No ClinGen
1000Genomes
ExAC
gnomAD
CA8386638
rs201854489
266 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
gnomAD
TCGA novel 267 T>= Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA398108415
rs1391875152
267 T>I No ClinGen
gnomAD
rs777700355
CA8386637
268 Y>H No ClinGen
ExAC
gnomAD
CA398107931
rs760770279
269 L>P No ClinGen
ExAC
gnomAD
CA8386618
rs760770279
269 L>R No ClinGen
ExAC
gnomAD
CA398107899
rs1418636744
271 E>K No ClinGen
gnomAD
CA8386615
rs746169067
274 R>T No ClinGen
ExAC
gnomAD
CA398107807
rs1485394903
276 T>A No ClinGen
gnomAD
CA398107794
rs752162824
276 T>M No ClinGen
ExAC
TOPMed
gnomAD
CA8386612
rs752162824
276 T>R No ClinGen
ExAC
TOPMed
gnomAD
rs1376025206
CA398107721
279 L>S No ClinGen
TOPMed
rs571651777
CA287740427
280 S>F Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
NCI-TCGA
gnomAD
CA8386610
rs372076149
281 S>G No ClinGen
ESP
ExAC
gnomAD
rs1434082437
CA398107670
281 S>N No ClinGen
TOPMed
CA398107641
rs1346819186
282 E>D No ClinGen
TOPMed
rs1555552085
CA398107542
284 S>I No ClinGen
Ensembl
rs1458363691
CA398107514
285 Y>C No ClinGen
gnomAD
CA398107401
rs1327840659
289 Y>* No ClinGen
gnomAD
CA287740421
rs550213918
292 M>V No ClinGen
1000Genomes
TOPMed
rs754479749
CA8386609
297 P>L No ClinGen
ExAC
gnomAD
CA398107211
rs1306212851
298 E>K No ClinGen
TOPMed
rs1032042958
CA287740412
300 I>L No ClinGen
gnomAD
rs1349200668
CA398107127
300 I>T No ClinGen
TOPMed
rs764502303
CA287740405
301 D>N No ClinGen
Ensembl
CA8386587
rs745474321
303 L>F No ClinGen
ExAC
gnomAD
rs1388168076
CA398106857
305 I>S No ClinGen
gnomAD
rs1454697931
CA398106851
306 S>T No ClinGen
gnomAD
CA398106818
rs1289360198
307 T>A No ClinGen
Ensembl
CA8386586
rs533463652
309 P>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs533463652
CA398106759
309 P>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1252118536
CA398106777
309 P>S No ClinGen
gnomAD
CA8386584
rs371327620
COSM262211
311 D>N Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1194670788
CA398106695
312 F>Y No ClinGen
gnomAD
rs1336875025
CA398106690
313 P>A No ClinGen
gnomAD
rs778178411
CA8386583
313 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs1336875025
CA398106687
313 P>S No ClinGen
gnomAD
TCGA novel 314 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
COSM975158
rs374884438
CA398106643
CA8386581
315 V>L endometrium [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
rs374884438
CA8386580
315 V>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 318 G>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1434786535
CA398106563
319 E>G No ClinGen
TOPMed
gnomAD
rs759681965
CA8386579
319 E>K No ClinGen
ExAC
gnomAD
CA8386577
rs543870333
320 V>A No ClinGen
1000Genomes
ExAC
gnomAD
CA8386578
rs370056539
320 V>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1597387995
CA398106516
321 T>A No ClinGen
Ensembl
CA8386576
rs763329803
321 T>R No ClinGen
ExAC
gnomAD
rs768618931
CA8386574
322 V>L No ClinGen
ExAC
gnomAD
CA8386573
rs760495947
325 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA8386572
rs201107300
326 D>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
COSM472262
rs201107300
CA8386571
326 D>N kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1394429661
CA398106416
327 D>E No ClinGen
gnomAD
TCGA novel 330 E>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA398106369
rs1170535560
330 E>D No ClinGen
TOPMed
gnomAD
CA398106329
rs778362990
333 A>E No ClinGen
ExAC
TOPMed
gnomAD
CA8386569
COSM3421265
rs778362990
333 A>V Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 335 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1372887211
CA398105345
337 A>D No ClinGen
gnomAD
CA8386528
rs762461041
337 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA8386526
rs370729866
338 I>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs777030850
CA8386524
340 I>V No ClinGen
ExAC
gnomAD
CA398105291
rs1418256013
341 L>P No ClinGen
gnomAD
CA287734766
rs909445386
342 G>D No ClinGen
Ensembl
rs780730989
CA8386521
344 S>T No ClinGen
ExAC
gnomAD
rs866127769
CA287734752
347 E>K No ClinGen
Ensembl
CA8386517
rs757492935
350 G>R No ClinGen
ExAC
gnomAD
rs757492935
CA8386518
350 G>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA8386516
rs754060262
351 I>F No ClinGen
ExAC
gnomAD
CA398105142
rs1308145419
351 I>T No ClinGen
gnomAD
rs370606170
CA8386515
352 Y>* No ClinGen
ESP
ExAC
gnomAD
CA8386514
rs549301178
353 K>E No ClinGen
1000Genomes
ExAC
gnomAD
TCGA novel 355 T>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8386513
rs751438660
356 G>E No ClinGen
ExAC
gnomAD
rs1034299208
CA287734717
358 V>M No ClinGen
TOPMed
CA8386510
rs749917953
359 M>I No ClinGen
ExAC
TOPMed
gnomAD
rs950906610
CA287734716
359 M>L No ClinGen
Ensembl
rs764702353
CA8386509
360 H>N No ClinGen
ExAC
TOPMed
gnomAD
CA8386508
rs761494407
361 Y>C No ClinGen
ExAC
TOPMed
gnomAD
CA8386507
rs776177839
362 G>R No ClinGen
ExAC
gnomAD
rs1166218574
CA398104942
363 N>K No ClinGen
gnomAD
rs776074283
CA8386505
364 M>K No ClinGen
ExAC
gnomAD
rs776074283
CA8386504
364 M>T No ClinGen
ExAC
gnomAD
rs769014533
CA8386506
364 M>V No ClinGen
ExAC
gnomAD
rs772702280
CA8386502
367 K>R No ClinGen
ExAC
TOPMed
gnomAD
rs550827365
CA287734675
368 Q>R No ClinGen
Ensembl
CA8386501
rs35222064
370 Q>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8386500
rs35222064
370 Q>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs770959103
CA8386499
371 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs749489630
CA8386498
371 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA8386496
rs754697704
372 E>Q No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 373 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA398104774
rs1486580097
373 E>G No ClinGen
gnomAD
CA8386495
rs751347030
374 Q>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA8386493
rs750399073
375 A>S No ClinGen
ExAC
TOPMed
gnomAD
rs750399073
CA8386492
375 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA398104735
rs1223964919
376 E>K No ClinGen
gnomAD
rs753474918
CA8386489
378 D>E No ClinGen
ExAC
TOPMed
gnomAD
rs763659496
CA8386488
379 G>R No ClinGen
ExAC
gnomAD
rs763659496
CA398104687
379 G>S No ClinGen
ExAC
gnomAD
TCGA novel 380 T>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs760092709
CA8386485
381 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs760092709
CA8386484
381 E>Q No ClinGen
ExAC
TOPMed
gnomAD
CA8386483
rs530116625
382 V>M No ClinGen
1000Genomes
ExAC
gnomAD
rs1004439968
CA287731400
386 A>P No ClinGen
Ensembl
rs199911320
CA8386462
387 G>R No ClinGen
1000Genomes
ESP
TOPMed
gnomAD
rs773138633
CA8386459
388 Y>* No ClinGen
ExAC
TOPMed
gnomAD
rs763569858
CA8386460
388 Y>C No ClinGen
ExAC
TOPMed
gnomAD
rs1242004419
CA398103371
389 L>V No ClinGen
gnomAD
rs1030209931
CA287731357
391 G>E No ClinGen
TOPMed
TCGA novel 393 N>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8386458
rs769901698
393 N>T No ClinGen
ExAC
gnomAD
TCGA novel 397 M>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA398103289
rs1364897494
397 M>T No ClinGen
gnomAD
CA398103271
rs1319014571
399 K>E No ClinGen
gnomAD
CA398103257
rs1567668796
400 G>S No ClinGen
Ensembl
CA398103221
rs1391753256
403 C>Y No ClinGen
gnomAD
CA398103209
rs1456459546
404 P>S No ClinGen
gnomAD
CA398103183
rs1597385897
406 V>G No ClinGen
Ensembl
CA8386454
rs745657206
407 K>* No ClinGen
ExAC
TOPMed
gnomAD
rs757129757
CA8386452
408 V>A No ClinGen
ExAC
gnomAD
rs778835742
CA8386453
408 V>I No ClinGen
ExAC
gnomAD
rs749296856
CA8386451
409 G>S No ClinGen
ExAC
gnomAD
rs1340848483
CA398103146
412 Y>H No ClinGen
gnomAD
rs1567668771
CA398103139
413 V>I No ClinGen
Ensembl
TCGA novel 414 T>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 417 Q>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs367907424
CA8386448
417 Q>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs767294599
CA8386447
417 Q>P No ClinGen
ExAC
gnomAD
CA287731279
rs894444649
418 N>Y No ClinGen
TOPMed
CA398103100
rs1205253218
419 V>I No ClinGen
TOPMed
rs978631566
CA287730247
422 V>M No ClinGen
gnomAD
rs770800184
CA8386433
424 N>S No ClinGen
ExAC
gnomAD
rs777878400
CA8386432
425 S>* No ClinGen
ExAC
TOPMed
gnomAD
COSM975152
CA8386431
rs777878400
425 S>L endometrium [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs780904779
CA8386428
427 G>A No ClinGen
ExAC
gnomAD
CA8386429
rs780904779
427 G>D No ClinGen
ExAC
gnomAD
TCGA novel 428 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA398103020
rs1409298516
429 L>P No ClinGen
gnomAD
rs1368868556
CA398103015
430 A>T No ClinGen
gnomAD
CA398102991
rs1314635305
432 A>V No ClinGen
gnomAD
rs563762362
COSM1258439
CA8386426
433 V>I oesophagus urinary_tract [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
rs780240780
CA8386425
434 Y>C No ClinGen
ExAC
TOPMed
gnomAD
rs750870108
COSM1216145
CA8386423
435 E>K Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs765737054
CA8386422
COSM417210
436 K>N urinary_tract [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
CA398102871
rs1255357072
441 M>I No ClinGen
gnomAD
rs370306502
CA398102882
CA8386421
441 M>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1597385475
CA398102854
442 V>G No ClinGen
Ensembl
CA8386420
rs753903107
442 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs376714196
COSM1286417
CA8386419
444 R>C autonomic_ganglia [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
CA8386417
COSM975150
rs373857317
444 R>H endometrium [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA8386418
rs373857317
444 R>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA8386416
rs770587087
445 I>N No ClinGen
ExAC
gnomAD
CA287730170
rs868643680
446 N>S No ClinGen
Ensembl
CA398102776
rs1209876209
448 Q>* No ClinGen
TOPMed
rs1288493981
CA398102735
450 D>E Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA8386415
rs762822823
453 Q>P No ClinGen
ExAC
TOPMed
gnomAD
rs1348261643
CA398102672
454 P>L No ClinGen
gnomAD
CA398102663
rs1228080733
455 R>M No ClinGen
gnomAD
CA8386412
rs769838699
458 F>V No ClinGen
ExAC
TOPMed
gnomAD
CA398102573
rs1171395671
460 G>E No ClinGen
TOPMed
gnomAD
rs768240121
CA8386409
460 G>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA8386410
rs768240121
460 G>W No ClinGen
ExAC
TOPMed
gnomAD
rs779770066
CA8386407
461 V>D No ClinGen
ExAC
gnomAD
rs746592925
CA8386408
461 V>F No ClinGen
ExAC
TOPMed
gnomAD
rs981237709
CA287730083
464 I>T No ClinGen
TOPMed
CA398102501
rs1597385452
466 G>R No ClinGen
Ensembl
rs750780303
CA8386405
468 E>* No ClinGen
ExAC
gnomAD
CA8386403
rs757741470
468 E>D No ClinGen
ExAC
gnomAD
CA8386404
rs779309283
468 E>G No ClinGen
ExAC
gnomAD
rs754382430
CA8386402
470 F>S No ClinGen
ExAC
gnomAD
CA398102410
rs1237421528
471 D>E No ClinGen
gnomAD
CA287730060
rs199950439
471 D>G No ClinGen
1000Genomes
gnomAD
CA8386401
rs764041996
471 D>N No ClinGen
ExAC
gnomAD
rs1319688328
CA398102338
472 F>L No ClinGen
gnomAD
rs1432384638
CA398102322
472 F>S No ClinGen
gnomAD
rs200760926
CA8386389
475 L>P No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1567668294
CA398102229
476 E>G No ClinGen
Ensembl
rs1404243500
CA398102205
477 Q>L No ClinGen
gnomAD
CA398102174
rs1451926181
479 C>F No ClinGen
TOPMed
gnomAD
rs1451926181
CA398102178
479 C>Y No ClinGen
TOPMed
gnomAD
TCGA novel 480 I>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1597385407
CA398102160
480 I>T No ClinGen
Ensembl
CA8386388
rs543041306
480 I>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 481 N>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs749966948
CA8386387
481 N>S No ClinGen
ExAC
gnomAD
CA287729995
rs767092739
484 N>D No ClinGen
Ensembl
rs1222676565
CA398102072
484 N>K No ClinGen
TOPMed
gnomAD
rs779217472
CA8386386
484 N>S No ClinGen
ExAC
TOPMed
gnomAD
rs1451095720
CA398102068
485 E>K No ClinGen
gnomAD
rs201400464
CA8386384
488 Q>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs377061497
CA8386381
492 N>D No ClinGen
ESP
ExAC
gnomAD
CA398101933
rs1293745015
492 N>K No ClinGen
gnomAD
rs61745301
CA287729978
493 H>D No ClinGen
1000Genomes
ExAC
gnomAD
rs61745301
CA8386380
493 H>Y No ClinGen
1000Genomes
ExAC
gnomAD
CA398101899
rs1461395314
494 H>R No ClinGen
TOPMed
rs1330348482
CA398101868
495 M>I No ClinGen
gnomAD
rs201212866
CA8386377
497 V>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 498 L>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs755218470
CA8386375
499 E>D No ClinGen
ExAC
gnomAD
rs370185511
CA8386374
500 Q>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs377419514
CA8386373
503 Y>C No ClinGen
ESP
ExAC
gnomAD
rs1380137986
CA398101704
504 K>N No ClinGen
TOPMed
rs761713855
CA8386372
504 K>Q No ClinGen
ExAC
gnomAD
CA398101684
rs1203016186
506 E>* No ClinGen
TOPMed
gnomAD
rs776365416
CA8386371
506 E>A No ClinGen
ExAC
gnomAD
CA398101682
rs1203016186
506 E>K No ClinGen
TOPMed
gnomAD
rs764086165
CA8386370
507 G>D No ClinGen
ExAC
gnomAD
CA8386368
rs373641414
509 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs745482991
CA8386365
510 W>R No ClinGen
ExAC
gnomAD
rs1428435696
CA398101624
511 E>A No ClinGen
TOPMed
gnomAD
CA398101621
rs1242710646
511 E>D No ClinGen
TOPMed
rs1307948615
CA398101625
511 E>K No ClinGen
TOPMed
gnomAD
rs1307948615
CA398101626
511 E>Q No ClinGen
TOPMed
gnomAD
CA8386364
rs774016181
512 F>L No ClinGen
ExAC
gnomAD
CA287729786
rs535978962
513 I>T No ClinGen
1000Genomes
TOPMed
rs749661272
CA8386362
513 I>V No ClinGen
ExAC
gnomAD
TCGA novel 514 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs201933344
CA8386359
516 G>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA8386358
rs538877044
517 M>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA8386357
rs755126897
519 L>P No ClinGen
ExAC
TOPMed
gnomAD
CA8386353
rs763845846
523 I>F No ClinGen
ExAC
gnomAD
CA8386352
rs763845846
523 I>L No ClinGen
ExAC
gnomAD
rs1436787472
CA398101447
523 I>N No ClinGen
TOPMed
rs752607957
CA8386350
524 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA624880747
rs1285957853
526 I>F No ClinGen
gnomAD
rs766967006
CA398101399
526 I>M No ClinGen
ExAC
TOPMed
gnomAD
rs1390127234
CA398101403
526 I>T No ClinGen
gnomAD
CA398101409
rs1380094747
526 I>V No ClinGen
TOPMed
rs759063489
CA8386348
527 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs747702681
CA287729684
528 K>* No ClinGen
Ensembl
CA398100394
rs1159447161
530 M>I No ClinGen
TOPMed
rs770135719
CA8386323
530 M>T No ClinGen
ExAC
gnomAD
rs762087541
CA8386322
532 I>S No ClinGen
ExAC
gnomAD
TCGA novel 533 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8386320
rs747566701
535 I>N No ClinGen
ExAC
TOPMed
gnomAD
CA8386319
rs747566701
535 I>T No ClinGen
ExAC
TOPMed
gnomAD
rs1229612821
CA398100283
538 E>K No ClinGen
gnomAD
TCGA novel 538 E>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA398100274
rs1316478304
539 E>K No ClinGen
gnomAD
CA287728814
rs989672077
540 C>S No ClinGen
TOPMed
CA398100252
rs1391507599
541 M>V No ClinGen
gnomAD
rs746055949
CA8386316
542 F>L No ClinGen
ExAC
gnomAD
rs142873432
CA398100207
544 K>N No ClinGen
TOPMed
rs577746666
CA8386314
544 K>R No ClinGen
1000Genomes
ExAC
gnomAD
CA8386313
rs747935393
545 A>S No ClinGen
ExAC
gnomAD
rs1448634375
CA398100175
548 T>A No ClinGen
gnomAD
rs754891622
CA8386311
549 S>Y No ClinGen
ExAC
gnomAD
CA8386309
rs765822763
552 N>S No ClinGen
ExAC
gnomAD
rs1368026148
CA398100102
555 Y>S No ClinGen
TOPMed
rs1277397956
CA398100085
556 D>E No ClinGen
gnomAD
rs757857067
CA8386308
556 D>N No ClinGen
ExAC
gnomAD
TCGA novel 557 Q>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8386307
rs750021880
558 H>Q No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 559 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1365988433
CA398099997
564 N>K No ClinGen
TOPMed
CA398100001
rs1597384989
564 N>T No ClinGen
Ensembl
CA398099983
rs1235645391
565 F>L No ClinGen
gnomAD
CA398099986
rs1597384985
565 F>S No ClinGen
Ensembl
rs1331921725
CA398099963
567 K>R No ClinGen
gnomAD
rs144732640
CA398099958
568 P>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs144732640
CA287728696
568 P>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs144732640
CA8386304
568 P>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs764591713
CA8386303
569 K>R No ClinGen
ExAC
gnomAD
CA398099925
rs1429083876
571 A>D Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA398099904
rs1174132017
573 G>D No ClinGen
TOPMed
gnomAD
rs776163975
CA8386301
573 G>R No ClinGen
ExAC
gnomAD
CA398099901
rs1174132017
573 G>V No ClinGen
TOPMed
gnomAD
CA8386299
rs376404501
577 A>S No ClinGen
ESP
ExAC
gnomAD
CA287728688
rs376404501
577 A>T No ClinGen
ESP
ExAC
gnomAD
rs771048728
CA8386297
579 F>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA8386296
rs189677868
580 S>L Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
gnomAD
CA8386294
rs368551036
582 V>L No ClinGen
ESP
ExAC
TOPMed
TCGA novel 583 H>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8386292
rs746888832
583 H>R No ClinGen
ExAC
rs1251973607
CA398099785
585 A>T No ClinGen
gnomAD
CA398099779
rs754289824
586 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs754289824
CA8386291
586 G>S No ClinGen
ExAC
TOPMed
gnomAD
CA8386289
rs202065425
588 V>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA398099750
rs1202557169
590 Y>C No ClinGen
gnomAD
CA398099754
rs1597384944
590 Y>H No ClinGen
Ensembl
rs1416740942
CA398099737
592 I>V No ClinGen
TOPMed
rs753577706
CA8386286
593 A>T No ClinGen
ExAC
gnomAD
rs377362051
CA8386285
593 A>V No ClinGen
ESP
ExAC
TOPMed
CA287728598
COSM1630040
rs1049578588
594 G>S liver [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
COSM3957963
CA8386283
rs776074215
595 W>* lung [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
CA8386282
rs767909153
597 D>N No ClinGen
ExAC
gnomAD
TCGA novel 599 N>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 600 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8386281
rs760149394
602 P>H No ClinGen
ExAC
TOPMed
gnomAD
CA398099623
rs760149394
602 P>L No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 603 L>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 603 L>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs12938754
CA8386279
CA398099603
604 N>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs773432205
CA8386277
605 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1412014090
CA398099583
606 T>A No ClinGen
gnomAD
rs746799119
CA8386275
607 V>A No ClinGen
ExAC
gnomAD
CA398099553
rs1432989036
609 G>A No ClinGen
gnomAD
CA8386274
rs373360808
611 Y>H No ClinGen
ESP
ExAC
gnomAD
rs1308976809
CA398099509
614 S>P No ClinGen
TOPMed
rs745858156
CA8386272
COSM435977
615 S>L Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA398099482
rs1231913964
617 K>Q No ClinGen
TOPMed
CA398099480
rs1479434420
617 K>R No ClinGen
TOPMed
CA287728524
rs1041086027
620 S>C No ClinGen
TOPMed
CA287728520
rs935879905
621 F>L No ClinGen
TOPMed
CA398099433
rs1443549177
622 L>F No ClinGen
TOPMed
rs1201973585
CA398099421
623 F>L No ClinGen
gnomAD
rs756851282
CA8386270
624 S>P No ClinGen
ExAC
TOPMed
gnomAD
rs753483859
CA8386269
625 N>D No ClinGen
ExAC
gnomAD
TCGA novel 625 N>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs183657375
CA8386268
626 Y>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs183657375
CA8386267
626 Y>F No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA8386266
rs752994225
627 A>V No ClinGen
ExAC
gnomAD
CA8386265
rs767976456
628 G>D No ClinGen
ExAC
gnomAD
rs1567667613
CA398099347
628 G>S No ClinGen
Ensembl
CA398099328
rs1388879579
629 A>V No ClinGen
gnomAD
rs759933771
CA8386264
631 T>I No ClinGen
ExAC
CA398099300
rs1448734506
631 T>S No ClinGen
gnomAD
CA8386245
rs552715118
632 G>D No ClinGen
1000Genomes
ExAC
gnomAD
rs1334484671
CA398099292
632 G>S No ClinGen
gnomAD
rs750478146
CA8386243
633 D>G No ClinGen
ExAC
gnomAD
CA287726128
rs998777982
633 D>N No ClinGen
TOPMed
TCGA novel 634 S>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8386242
rs535572565
COSM3937233
635 G>R oesophagus [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs761982304
CA8386241
640 G>A No ClinGen
ExAC
TOPMed
gnomAD
CA8386239
rs368993670
641 G>R No ClinGen
ESP
ExAC
gnomAD
CA8386238
rs759381130
641 G>V No ClinGen
ExAC
rs368993670
CA398097970
641 G>W No ClinGen
ESP
ExAC
gnomAD
rs1212396138
CA398097904
644 K>T No ClinGen
gnomAD
CA8386236
rs770980580
645 G>S No ClinGen
ExAC
gnomAD
rs772820574
CA8386234
647 S>F No ClinGen
ExAC
gnomAD
rs377381885
CA398097789
651 V>L Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs377381885
COSM1216157
CA8386232
651 V>M large_intestine [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
CA8386230
rs780897551
652 S>L No ClinGen
ExAC
gnomAD
rs1567666681
CA398097758
653 A>P No ClinGen
Ensembl
rs758871108
CA8386224
654 V>A No ClinGen
ExAC
TOPMed
gnomAD
rs201179810
CA8386227
654 V>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs201179810
CA8386225
654 V>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs750959782
CA8386223
656 R>K No ClinGen
ExAC
gnomAD
TCGA novel 659 L>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1202597060
CA398097504
660 N>I No ClinGen
gnomAD
rs1228479657
CA398097414
CA398097409
663 M>I No ClinGen
TOPMed
gnomAD
rs1269420865
CA398097434
663 M>V No ClinGen
gnomAD
rs529960171
CA8386206
666 L>F No ClinGen
1000Genomes
ExAC
gnomAD
CA8386205
rs188020778
667 R>S No ClinGen
1000Genomes
ExAC
gnomAD
rs780354461
CA287725933
669 T>I No ClinGen
ExAC
TOPMed
gnomAD
CA8386204
rs780354461
669 T>N No ClinGen
ExAC
TOPMed
gnomAD
rs758783505
CA398097286
670 H>P No ClinGen
ExAC
TOPMed
gnomAD
rs758783505
CA8386203
670 H>R No ClinGen
ExAC
TOPMed
gnomAD
rs376853607
CA287725930
670 H>Y No ClinGen
ESP
TOPMed
gnomAD
rs1452127277
CA398097239
672 H>L No ClinGen
gnomAD
rs1404198290
CA398097211
673 F>L No ClinGen
gnomAD
rs752805492
CA398097181
675 R>* No ClinGen
TOPMed
gnomAD
CA8386202
rs267604694
675 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs779397376
CA8386201
676 C>Y No ClinGen
ExAC
gnomAD
rs1156801328
CA398097131
678 I>T No ClinGen
gnomAD
rs546689863
CA8386200
679 P>S No ClinGen
1000Genomes
ExAC
gnomAD
COSM3402573
rs753941743
CA8386199
680 N>S central_nervous_system [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA398096989
rs1470418395
684 T>I No ClinGen
TOPMed
CA398097003
rs1239762941
684 T>P No ClinGen
TOPMed
rs1249504311
CA398096927
686 G>C No ClinGen
gnomAD
CA398096116
rs1293444889
686 G>D No ClinGen
gnomAD
rs376737269
CA8386182
687 V>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA398096089
rs1302443859
688 M>R No ClinGen
gnomAD
rs1302443859
CA398096093
688 M>T No ClinGen
gnomAD
rs1372129215
CA398096067
690 H>Y No ClinGen
gnomAD
rs1168300761
CA398096025
693 V>I No ClinGen
gnomAD
rs950408208
CA287718177
694 M>I No ClinGen
gnomAD
CA398096007
rs1422509351
694 M>T No ClinGen
gnomAD
CA287718164
rs756173745
695 H>Q No ClinGen
ExAC
CA398096002
rs1200634983
695 H>Y No ClinGen
gnomAD
rs752914001
CA8386179
696 Q>* No ClinGen
ExAC
TOPMed
gnomAD
rs752914001
CA398095989
696 Q>K No ClinGen
ExAC
TOPMed
gnomAD
CA8386178
rs781556558
COSM435973
698 R>C Variant assessed as Somatic; 0.0 impact. large_intestine breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs755306372
CA8386177
698 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA398095959
rs755306372
698 R>P No ClinGen
ExAC
TOPMed
gnomAD
rs1196754163
CA398095946
699 C>F No ClinGen
gnomAD
rs1254350778
CA398095954
699 C>R No ClinGen
gnomAD
rs2240579
CA398095926
700 N>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1235765572
CA398095916
701 G>E No ClinGen
gnomAD
rs2190729
CA8386175
VAR_030231
701 G>R No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA398095897
rs1282758913
702 V>A No ClinGen
gnomAD
rs761768181
CA8386174
703 L>P No ClinGen
ExAC
COSM3937231
rs753739990
CA8386173
704 E>* oesophagus [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs753739990
CA287718106
704 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs200422906
CA8386172
705 G>D No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
RCV001198662
rs1394139900
CA398095847
706 I>N No ClinGen
ClinVar
dbSNP
gnomAD
CA398095841
rs1394139900
706 I>S No ClinGen
gnomAD
rs760470052
CA287718059
COSM1216141
707 R>Q large_intestine [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
rs572177108
CA8386171
707 R>W No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs931730352
CA287718053
709 C>S No ClinGen
TOPMed
gnomAD
TCGA novel 709 C>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1479706525
CA398095792
710 R>G No ClinGen
TOPMed
gnomAD
CA287718050
rs267604693
710 R>K No ClinGen
Ensembl
CA287718049
rs921637391
711 K>N No ClinGen
TOPMed
gnomAD
CA398095752
rs1414835819
712 G>R No ClinGen
gnomAD
CA287718048
rs975734965
712 G>V No ClinGen
TOPMed
gnomAD
rs1437593783
CA398095717
714 P>A No ClinGen
TOPMed
gnomAD
CA398095691
rs1202350615
715 S>R No ClinGen
TOPMed
gnomAD
CA398095696
rs1239978002
715 S>T No ClinGen
TOPMed
rs554095099
CA8386169
716 R>Q No ClinGen
1000Genomes
ExAC
gnomAD
CA8386170
rs775048148
716 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs1331393312
CA398095627
719 Y>C No ClinGen
TOPMed
gnomAD
CA398095630
rs1221767620
719 Y>H No ClinGen
gnomAD
rs1020171421
CA287718008
720 A>G No ClinGen
TOPMed
gnomAD
CA287718015
rs966374872
720 A>T No ClinGen
TOPMed
rs1020171421
CA398095617
720 A>V No ClinGen
TOPMed
gnomAD
CA398095607
rs1318133056
721 D>A No ClinGen
TOPMed
rs1000941412
CA287718004
723 K>R No ClinGen
Ensembl
rs1333726515
CA398095572
724 Q>* No ClinGen
gnomAD
CA398095568
rs1333726515
724 Q>K No ClinGen
gnomAD
CA8386168
rs562834527
725 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs902590181
CA287717996
725 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs1185269713
CA398094631
726 Y>* No ClinGen
TOPMed
rs759137231
CA8386150
727 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA8386151
rs767061168
727 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA398094560
rs1169180665
730 N>D No ClinGen
TOPMed
CA287717371
rs370552608
730 N>S No ClinGen
gnomAD
rs773903496
CA8386148
732 S>G No ClinGen
ExAC
gnomAD
rs1181944671
CA398094490
733 A>T No ClinGen
gnomAD
CA8386146
rs763236327
735 P>A No ClinGen
ExAC
gnomAD
rs763236327
CA398094469
735 P>S No ClinGen
ExAC
gnomAD
TCGA novel 737 G>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs948643858
CA287717339
737 G>V No ClinGen
TOPMed
gnomAD
rs1293843823
CA398094386
740 I>T No ClinGen
TOPMed
gnomAD
TCGA novel 743 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA287717314
rs867554605
744 N>T No ClinGen
Ensembl
rs1356440869
CA398094294
748 K>N No ClinGen
TOPMed
TCGA novel 750 L>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs748717248
CA8386142
CA8386143
751 N>K No ClinGen
ExAC
TOPMed
gnomAD
CA398094251
rs1269009319
752 S>F Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA8386141
rs776806739
753 I>S No ClinGen
ExAC
gnomAD
rs369919760
CA8386139
754 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs749031621
CA8386136
756 D>N No ClinGen
ExAC
gnomAD
CA287717291
rs777663218
757 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA8386134
rs756022773
757 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA8386135
rs777663218
757 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA398094203
rs1227541362
758 E>K No ClinGen
TOPMed
gnomAD
CA8386133
rs752651852
759 Q>R No ClinGen
ExAC
TOPMed
gnomAD
rs754486353
CA8386129
760 F>C No ClinGen
ExAC
TOPMed
gnomAD
rs766971329
CA8386132
760 F>I No ClinGen
ExAC
TOPMed
gnomAD
rs766971329
CA8386131
760 F>L No ClinGen
ExAC
TOPMed
gnomAD
rs751161545
CA8386128
761 R>M No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 761 R>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs751161545
CA287717250
761 R>T No ClinGen
ExAC
TOPMed
gnomAD
rs765721497
CA8386125
763 G>R No ClinGen
ExAC
TOPMed
gnomAD
CA8386124
rs765721497
COSM472254
763 G>S kidney [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs1019221506
CA398094124
764 N>D No ClinGen
gnomAD
CA287717206
rs1019221506
764 N>Y No ClinGen
gnomAD
rs868549264
CA287717202
765 T>I No ClinGen
Ensembl
CA287717197
rs1008711458
766 K>R No ClinGen
Ensembl
rs1408574950
CA398093985
769 F>L No ClinGen
gnomAD
rs765633329
CA8386107
771 A>V No ClinGen
ExAC
gnomAD
rs201786434
CA8386106
773 L>F No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs754314075
CA8386105
773 L>H No ClinGen
ExAC
gnomAD
CA398093929
rs1419631693
774 L>V No ClinGen
gnomAD
rs371320221
CA287715886
775 G>E No ClinGen
ESP
TOPMed
gnomAD
rs368439343
CA8386104
776 L>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1243363308
CA398093908
776 L>P No ClinGen
gnomAD
CA398093895
rs1202695218
778 E>K No ClinGen
gnomAD
rs1015610608
CA287715871
779 E>Q No ClinGen
Ensembl
rs761283999
CA8386103
780 M>T No ClinGen
ExAC
TOPMed
gnomAD
rs775409429
CA8386102
781 R>G No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 783 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 786 V>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs772214620
CA8386101
786 V>M No ClinGen
ExAC
gnomAD
CA8386100
rs759635353
787 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA287715857
rs866138852
788 L>P No ClinGen
Ensembl
CA398093507
rs1265102492
791 S>N No ClinGen
TOPMed
gnomAD
rs1265102492
CA398093505
791 S>T No ClinGen
TOPMed
gnomAD
CA398093496
rs774557713
792 T>K No ClinGen
ExAC
TOPMed
gnomAD
CA8386099
rs774557713
792 T>M No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 793 Q>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs200751006
CA8386097
793 Q>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA398093466
rs781028573
794 A>E No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 794 A>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8386096
rs781028573
794 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1210859642
CA398093454
795 V>L No ClinGen
TOPMed
rs1290733404
CA398093445
796 C>G No ClinGen
gnomAD
CA8386093
rs779393836
797 R>W No ClinGen
ExAC
gnomAD
rs1464509575
CA398093422
798 G>R No ClinGen
TOPMed
CA8386091
rs548253207
799 Y>* No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA8386090
rs778697002
800 L>M No ClinGen
ExAC
gnomAD
rs1246683080
CA398093386
800 L>R No ClinGen
gnomAD
rs868009721
CA287715796
801 M>R No ClinGen
Ensembl
rs754224134
CA8386088
802 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs765434705
CA8386089
802 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs1597380750
CA398093344
803 V>G No ClinGen
Ensembl
CA398093348
rs1186591671
803 V>L No ClinGen
gnomAD
rs764601650
CA398093334
804 E>G No ClinGen
ExAC
TOPMed
gnomAD
CA8386087
rs764601650
804 E>V No ClinGen
ExAC
TOPMed
gnomAD
CA8386085
rs753276812
805 F>C No ClinGen
ExAC
TOPMed
gnomAD
rs373389464
CA8386084
COSM3818777
805 F>L breast [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
CA398093320
rs1567663750
805 F>V No ClinGen
Ensembl
CA287715778
rs939561855
806 K>R No ClinGen
TOPMed
CA398093224
rs1338939800
809 M>I No ClinGen
gnomAD
rs1245458448
CA398093239
809 M>K No ClinGen
TOPMed
gnomAD
rs1245458448
CA398093236
809 M>T No ClinGen
TOPMed
gnomAD
CA398092539
rs1276413300
813 D>N No ClinGen
TOPMed
gnomAD
CA398092535
rs1276413300
813 D>Y No ClinGen
TOPMed
gnomAD
CA8386069
rs777959486
814 S>C No ClinGen
ExAC
gnomAD
rs2277644
CA398092438
CA398092443
819 Q>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA398092452
rs1346079549
819 Q>K No ClinGen
gnomAD
rs753086074
CA8386067
820 Y>H No ClinGen
ExAC
TOPMed
gnomAD
rs753086074
CA398092436
820 Y>N No ClinGen
ExAC
TOPMed
gnomAD
CA8386066
rs768052059
821 N>S No ClinGen
ExAC
gnomAD
rs751603093
CA8386064
823 R>C No ClinGen
ExAC
gnomAD
rs369187929
CA8386063
823 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs763125452
CA8386062
824 S>C No ClinGen
ExAC
CA287714148
rs770293589
825 F>L No ClinGen
Ensembl
CA8386060
rs763741248
827 N>S No ClinGen
ExAC
TOPMed
gnomAD
CA8386057
rs772014501
828 V>A No ClinGen
ExAC
gnomAD
rs775216814
CA8386058
828 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA8386055
rs377122639
829 K>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1236076329
CA398092243
831 W>* No ClinGen
TOPMed
CA398092173
rs1187302311
835 N>K No ClinGen
TOPMed
CA287714065
rs1006719815
836 L>V No ClinGen
TOPMed
gnomAD
rs748882559
CA8386053
838 F>L No ClinGen
ExAC
gnomAD
rs370062517
CA8386051
839 K>N No ClinGen
ESP
ExAC
gnomAD
rs748537792
CA398092086
842 P>A No ClinGen
ExAC
TOPMed
gnomAD
CA8386050
rs748537792
842 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA398092068
rs1189731591
844 L>P No ClinGen
gnomAD
CA8386046
rs201644802
845 K>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs199519118
CA8386045
846 S>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs958930265
CA287713960
CA287713961
846 S>R No ClinGen
TOPMed
gnomAD
CA8386043
rs373275879
847 A>E No ClinGen
ESP
ExAC
gnomAD
rs186137259
CA8386044
847 A>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA398091994
rs1418924623
850 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs201985682
CA287713937
852 E>D No ClinGen
1000Genomes
rs1236571630
CA398091938
853 M>T No ClinGen
gnomAD
rs371008542
CA8386039
854 A>D No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs371008542
CA8386040
854 A>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA8386041
rs775335012
854 A>S No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 854 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8386038
rs371008542
854 A>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1262627806
CA398091885
856 M>T No ClinGen
gnomAD
CA398091851
rs1597379775
858 E>A No ClinGen
Ensembl
TCGA novel 859 D>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8386036
rs748790850
861 E>D No ClinGen
ExAC
gnomAD
TCGA novel 862 R>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs772662573
CA8386035
863 T>I No ClinGen
ExAC
gnomAD
rs1374446622
CA398091774
864 K>E No ClinGen
TOPMed
gnomAD
CA8386034
rs532067093
864 K>R No ClinGen
1000Genomes
ExAC
gnomAD
CA398091748
rs1597379766
866 E>K No ClinGen
Ensembl
COSM1630038
rs199540562
CA8386033
869 R>* liver [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA8386032
rs147387198
COSM262207
869 R>Q kidney large_intestine [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA398091676
rs1331637610
873 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs201756932
CA8386030
874 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8386028
rs1555550189
876 E>V No ClinGen
Ensembl
CA8386027
rs780528208
877 L>V No ClinGen
ExAC
gnomAD
CA8386026
rs576189704
878 E>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA398091602
rs1185615911
879 E>K No ClinGen
gnomAD
CA8386023
rs757452375
882 V>A No ClinGen
ExAC
gnomAD
TCGA novel 884 L>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs754037722
CA8386022
887 E>K No ClinGen
ExAC
gnomAD
rs200221550
CA8386018
890 D>N No ClinGen
ExAC
TOPMed
gnomAD
CA8386017
rs369600430
891 L>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8386016
rs766411881
893 L>F No ClinGen
ExAC
gnomAD
CA398091346
rs1369227582
895 V>A No ClinGen
TOPMed
gnomAD
CA287713676
rs1053679053
895 V>I No ClinGen
gnomAD
rs762833839
CA8386015
896 Q>* No ClinGen
ExAC
gnomAD
CA287713651
rs936506701
896 Q>R No ClinGen
gnomAD
CA398090472
rs1168036095
898 E>A No ClinGen
TOPMed
rs1031387627
CA287710820
899 T>I No ClinGen
TOPMed
gnomAD
rs1031387627
CA287710821
899 T>K No ClinGen
TOPMed
gnomAD
CA398090452
rs1199806212
900 E>G No ClinGen
TOPMed
gnomAD
CA398090456
rs1430251801
900 E>K No ClinGen
gnomAD
CA8386002
rs754032955
903 M>R No ClinGen
ExAC
TOPMed
gnomAD
rs1362183349
CA398090379
905 A>D No ClinGen
TOPMed
rs999798065
CA398090381
905 A>P No ClinGen
TOPMed
CA287710813
rs999798065
905 A>T No ClinGen
TOPMed
CA398090372
rs1200117101
906 E>G No ClinGen
gnomAD
TCGA novel 908 R>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8385998
rs572952027
908 R>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs751366719
CA8385999
908 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1438063017
CA398090324
909 C>G Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1438063017
CA398090327
909 C>R No ClinGen
gnomAD
CA398090284
rs1349339103
911 G>A No ClinGen
TOPMed
CA398090286
rs1349339103
911 G>E No ClinGen
TOPMed
rs762896337
CA8385997
912 L>F No ClinGen
ExAC
TOPMed
gnomAD
CA398090261
rs1196205099
913 I>T No ClinGen
gnomAD
CA8385995
rs371057299
914 K>E No ClinGen
ESP
TOPMed
gnomAD
rs1325140547
CA398090248
914 K>R No ClinGen
gnomAD
CA398090189
rs1254861122
917 I>T No ClinGen
TOPMed
gnomAD
CA398090164
rs1367282442
919 L>P No ClinGen
gnomAD
rs761218756
CA8385992
925 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA8385991
rs768267700
927 T>K No ClinGen
ExAC
TOPMed
gnomAD
CA8385990
rs768267700
927 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA8385988
rs775784242
928 E>D No ClinGen
ExAC
gnomAD
CA287710714
rs1011495918
931 E>Q No ClinGen
Ensembl
TCGA novel
CA398089957
rs1228165420
932 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
gnomAD
NCI-TCGA
rs746318337
CA8385986
934 E>G No ClinGen
ExAC
TOPMed
gnomAD
CA8385987
rs373617551
934 E>K No ClinGen
ESP
ExAC
gnomAD
rs1412726968
CA398089911
935 E>D No ClinGen
TOPMed
rs771525567
CA8385984
936 M>I No ClinGen
ExAC
gnomAD
rs539224323
CA8385985
936 M>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1392431531
CA398089820
943 K>N No ClinGen
gnomAD
CA287710698
rs906880468
943 K>R No ClinGen
TOPMed
gnomAD
rs1176447655
CA398089817
944 K>E No ClinGen
gnomAD
CA8385982
rs778036904
945 R>K No ClinGen
ExAC
gnomAD
rs377056238
CA8385979
946 N>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8385980
rs748400364
946 N>S No ClinGen
ExAC
gnomAD
CA8385978
rs201762118
949 D>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs868075343
CA287710671
950 K>T No ClinGen
Ensembl
rs1378173426
CA398089770
951 C>R No ClinGen
TOPMed
gnomAD
rs750293503
CA398089759
952 S>F No ClinGen
ExAC
gnomAD
CA8385977
rs750293503
952 S>Y No ClinGen
ExAC
gnomAD
rs1344921980
CA398089758
953 S>P No ClinGen
TOPMed
CA398089750
rs1597378396
954 L>F No ClinGen
Ensembl
CA398089747
rs1597378392
954 L>R No ClinGen
Ensembl
rs1597378387
CA398089745
955 K>E No ClinGen
Ensembl
rs372844195
CA8385976
957 D>G No ClinGen
ESP
ExAC
gnomAD
CA8385974
rs753325183
958 I>N No ClinGen
ExAC
gnomAD
rs1401053361
CA398089713
959 D>E No ClinGen
TOPMed
gnomAD
CA287710656
rs376701281
959 D>G No ClinGen
TOPMed
gnomAD
TCGA novel 959 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs763617348
CA8385973
960 D>H No ClinGen
ExAC
gnomAD
rs201602800
CA287710647
961 L>P No ClinGen
1000Genomes
CA398089701
rs201602800
961 L>Q No ClinGen
1000Genomes
rs1156404487
CA398089700
962 E>K No ClinGen
gnomAD
CA287710639
rs199579128
963 L>P No ClinGen
1000Genomes
rs973999597
CA287710637
964 T>N No ClinGen
TOPMed
gnomAD
CA8385971
rs775127686
966 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs775127686
CA287710618
966 T>R No ClinGen
ExAC
TOPMed
gnomAD
CA287710595
rs200888879
969 E>K No ClinGen
1000Genomes
TCGA novel 971 E>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1476991592
CA398089634
972 K>E No ClinGen
TOPMed
rs1476991592
CA398089635
972 K>Q No ClinGen
TOPMed
rs762047681
CA287707405
979 V>I No ClinGen
gnomAD
CA398089176
rs1170543943
980 K>R No ClinGen
gnomAD
CA398089165
rs1477249507
981 N>K No ClinGen
TOPMed
gnomAD
CA398089157
rs1446951213
983 S>T No ClinGen
TOPMed
CA8385934
rs777672525
984 E>K No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 985 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA398089118
rs1268534440
988 A>E No ClinGen
gnomAD
rs1209416219
CA398089113
COSM3356884
989 L>F haematopoietic_and_lymphoid_tissue [Cosmic] No ClinGen
cosmic curated
gnomAD
CA398089109
rs1359008317
990 E>Q No ClinGen
Ensembl
CA8385931
rs780799496
995 K>N No ClinGen
ExAC
gnomAD
rs1262826171
CA398089072
995 K>Q No ClinGen
gnomAD
rs369473556
CA8385932
995 K>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs751253408
CA8385929
998 K>E No ClinGen
ExAC
TOPMed
gnomAD
CA398089046
rs1331418426
999 E>K No ClinGen
gnomAD
CA8385928
COSM1216143
rs200606595
1000 K>N large_intestine [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
rs765811468
CA8385925
1004 Q>P No ClinGen
ExAC
TOPMed
gnomAD
rs1597377049
CA398089004
1005 E>Q No ClinGen
Ensembl
rs1237477439
CA398088979
1008 Q>R No ClinGen
TOPMed
CA287707337
rs368557738
1012 D>H No ClinGen
ESP
rs962053651
CA287707328
1013 D>E No ClinGen
Ensembl
rs776524560
CA8385922
1015 Q>R No ClinGen
ExAC
CA287707322
rs371261346
1016 V>L No ClinGen
ESP
rs964726212
CA287707313
1018 E>K No ClinGen
TOPMed
gnomAD
rs775795346
CA8385919
1019 D>G No ClinGen
ExAC
gnomAD
rs760744083
CA8385920
1019 D>H No ClinGen
ExAC
TOPMed
gnomAD
CA8385918
rs772336384
1021 V>A No ClinGen
ExAC
gnomAD
CA8385916
rs777584614
1022 N>S No ClinGen
ExAC
gnomAD
rs749076104
CA8385917
1022 N>Y No ClinGen
ExAC
gnomAD
CA8385915
rs769695969
1023 G>D No ClinGen
ExAC
TOPMed
gnomAD
rs1255411655
CA398088871
1025 I>N No ClinGen
gnomAD
rs1230781939
CA398088849
1028 N>S No ClinGen
gnomAD
CA8385913
rs780525125
1030 K>R No ClinGen
ExAC
gnomAD
rs199838645
CA8385912
1031 L>F No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA398088830
rs199838645
1031 L>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs779755705
CA8385910
1032 E>A No ClinGen
ExAC
gnomAD
CA8385911
rs751092152
1032 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA287707269
rs955620752
1034 Q>R No ClinGen
Ensembl
rs1383683190
CA398088804
1035 T>A No ClinGen
TOPMed
gnomAD
CA8385909
rs758169145
1036 D>N No ClinGen
ExAC
gnomAD
rs758079241
CA8385890
1038 L>P No ClinGen
ExAC
TOPMed
gnomAD
CA8385889
rs745548039
1039 E>* No ClinGen
ExAC
gnomAD
CA8385888
rs373076445
1040 G>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8385887
rs373076445
1040 G>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1354974119
CA398088758
1040 G>V No ClinGen
TOPMed
gnomAD
CA398088752
rs1356172170
1041 S>F Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA398088748
rs1281934443
1042 L>S No ClinGen
TOPMed
gnomAD
CA8385885
rs551341526
1043 E>D No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA398088735
rs1248744232
1044 Q>* No ClinGen
gnomAD
rs1359077021
CA398088718
1046 K>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs200874893
CA8385880
1048 L>P No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA8385881
rs200874893
1048 L>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA8385882
rs752800396
1048 L>V No ClinGen
ExAC
gnomAD
CA8385879
rs545467762
1049 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
gnomAD
rs1018514457
CA287706593
1049 R>W No ClinGen
TOPMed
gnomAD
rs1478875991
CA398088697
1050 A>E No ClinGen
TOPMed
gnomAD
CA398088695
rs1478875991
1050 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs531627533
CA8385877
1052 L>* No ClinGen
1000Genomes
ExAC
gnomAD
CA398088677
rs1205108475
1053 E>G No ClinGen
TOPMed
CA8385876
rs776333588
1054 R>G No ClinGen
ExAC
gnomAD
TCGA novel 1054 R>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs376532213
CA8385875
1054 R>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8385874
rs371880753
1055 A>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs371880753
CA398088664
1055 A>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8385873
COSM1609809
rs371880753
1055 A>V Variant assessed as Somatic; 0.0 impact. liver [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA287706569
rs1030154655
1056 K>* No ClinGen
Ensembl
CA8385871
rs201618576
1056 K>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA8385870
rs778696958
1057 R>M No ClinGen
ExAC
gnomAD
rs1218601507
CA398088618
1062 D>E No ClinGen
gnomAD
CA287706547
rs900270269
1062 D>H No ClinGen
Ensembl
CA8385869
rs756925461
1065 M>T No ClinGen
ExAC
gnomAD
CA398088591
rs1426432766
1066 S>F No ClinGen
TOPMed
gnomAD
CA8385868
rs749631461
1066 S>P No ClinGen
ExAC
gnomAD
rs778048083
CA8385867
1067 Q>R No ClinGen
ExAC
gnomAD
rs1467219569
CA398088581
1068 E>A No ClinGen
TOPMed
gnomAD
rs756594347
CA8385866
1068 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA8385864
rs767514797
1070 I>M No ClinGen
ExAC
gnomAD
CA398088566
rs1169810767
1070 I>T No ClinGen
gnomAD
CA8385863
rs2074877
VAR_024543
1071 M>V No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
TCGA novel 1072 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA398088550
rs1356534873
1072 D>V No ClinGen
TOPMed
rs1191550097
CA398088547
1073 L>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA398088541
rs1474174651
1074 E>Q No ClinGen
gnomAD
rs2074876
CA8385861
VAR_030232
1076 D>E No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA398088491
rs1291713506
1080 I>T No ClinGen
TOPMed
rs1457792107
CA398088480
1082 E>K No ClinGen
gnomAD
rs1306274900
CA398088463
1084 L>* No ClinGen
gnomAD
rs928190926
CA287706466
1084 L>M No ClinGen
gnomAD
TCGA novel 1088 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8385839
rs758610820
1088 E>Q No ClinGen
ExAC
gnomAD
rs1379292389
CA398088414
1089 F>L No ClinGen
gnomAD
rs202075781
CA8385838
1090 E>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs763892093
CA8385837
1091 L>F Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA8385836
rs760534346
1093 Q>* No ClinGen
ExAC
gnomAD
rs1447163739
CA398088382
1093 Q>H No ClinGen
TOPMed
rs1256100483
CA398129794
1097 K>R No ClinGen
gnomAD
rs767529583
CA8385834
1098 I>T No ClinGen
ExAC
TOPMed
gnomAD
CA8385833
rs764309768
1099 D>I No ClinGen
ExAC
CA8385830
rs773949729
1101 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs770378642
CA8385829
1104 H>Y No ClinGen
ExAC
gnomAD
CA8385826
rs769541871
1107 Q>H No ClinGen
ExAC
gnomAD
CA8385827
rs764365343
1107 Q>K No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 1107 Q>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs748505561
CA8385825
1108 F>L No ClinGen
ExAC
gnomAD
CA398129456
rs1359697250
1109 Q>K No ClinGen
gnomAD
rs781588323
CA8385824
1109 Q>P No ClinGen
ExAC
gnomAD
rs1459133238
CA398129408
1110 K>N No ClinGen
gnomAD
CA398129388
rs1477452228
1111 K>M No ClinGen
gnomAD
CA398129383
rs1349886110
1111 K>N No ClinGen
gnomAD
CA398129344
rs1426784191
1113 K>E No ClinGen
TOPMed
gnomAD
CA8385821
rs747549130
1114 E>D No ClinGen
ExAC
gnomAD
rs769105997
CA398129321
1114 E>K No ClinGen
ExAC
gnomAD
rs769105997
CA8385822
1114 E>Q No ClinGen
ExAC
gnomAD
rs368451020
CA8385820
1115 L>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA287742264
rs368451020
1115 L>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8385801
rs566940799
1117 A>T No ClinGen
1000Genomes
ExAC
gnomAD
CA8385800
rs745906763
1117 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1235110056
CA398129067
1118 R>C No ClinGen
TOPMed
gnomAD
COSM1380712
CA8385799
rs192852006
1118 R>H large_intestine [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
rs533539367
CA8385798
1119 I>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs533539367
CA398129041
1119 I>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1300113972
CA398129047
1119 I>V No ClinGen
gnomAD
rs1431649173
CA398129003
1121 E>Q No ClinGen
TOPMed
rs199589434
CA8385797
1123 E>K No ClinGen
1000Genomes
ExAC
gnomAD
CA398128929
rs1288213946
1124 E>K No ClinGen
TOPMed
rs781066339
CA8385796
1126 I>T No ClinGen
ExAC
TOPMed
gnomAD
rs1445485833
CA398128805
1127 E>G No ClinGen
gnomAD
rs61745304
CA8385795
1128 A>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA8385793
rs766219060
1129 E>Q No ClinGen
ExAC
TOPMed
gnomAD
rs749855584
CA8385791
1131 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA8385792
rs749855584
1131 T>R No ClinGen
ExAC
TOPMed
gnomAD
rs761391784
CA8385789
1132 L>P No ClinGen
ExAC
TOPMed
gnomAD
CA398128658
rs1382465875
1133 R>K No ClinGen
TOPMed
gnomAD
rs1179321893
CA398128613
1136 I>T No ClinGen
gnomAD
CA398128604
rs1411632518
1137 E>G No ClinGen
TOPMed
gnomAD
rs370613146
CA8385788
1140 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA398128548
rs1471406082
1140 R>H Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1248286957
CA398128530
1142 D>H No ClinGen
TOPMed
gnomAD
CA287741826
rs971131554
1145 R>K No ClinGen
Ensembl
rs1202137220
CA398128450
1147 L>M No ClinGen
gnomAD
rs1202137220
CA398128447
1147 L>V No ClinGen
gnomAD
CA8385787
rs763795168
1148 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs775964864
CA8385785
1149 E>D No ClinGen
ExAC
gnomAD
rs1233984585
CA398128415
1149 E>K No ClinGen
gnomAD
CA398128371
rs1238768353
1151 S>C No ClinGen
gnomAD
rs772438370
CA8385783
1151 S>I No ClinGen
ExAC
TOPMed
gnomAD
rs774254848
CA8385781
1152 E>K No ClinGen
ExAC
gnomAD
CA398128355
rs774254848
1152 E>Q No ClinGen
ExAC
gnomAD
CA8385780
rs373375015
1154 L>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs778124612
CA8385778
1155 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs778124612
CA8385779
1155 E>Q No ClinGen
ExAC
TOPMed
gnomAD
CA8385777
rs756467327
1157 A>V No ClinGen
ExAC
gnomAD
CA8385776
rs376155718
1158 S>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs376155718
CA8385775
1158 S>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs781663301
CA8385774
1158 S>R No ClinGen
ExAC
TOPMed
gnomAD
rs750381750
CA8385773
1159 G>A No ClinGen
ExAC
gnomAD
rs201696029
CA8385771
1160 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8385770
rs753413014
1161 T>A No ClinGen
ExAC
gnomAD
CA287741781
rs866984640
1164 Q>* No ClinGen
Ensembl
rs760427145
CA8385768
1164 Q>R No ClinGen
ExAC
gnomAD
rs752953353
CA8385767
1165 I>N No ClinGen
ExAC
gnomAD
CA8385766
rs767954040
1166 E>K No ClinGen
ExAC
gnomAD
rs759892824
COSM705214
CA8385765
1168 N>D lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA398128102
rs1244963292
1168 N>I No ClinGen
gnomAD
CA8385764
rs775010991
1169 K>E No ClinGen
ExAC
gnomAD
TCGA novel
CA398128089
rs1597888987
1169 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
ClinGen
Ensembl
rs1413288530
CA398128002
1175 F>I No ClinGen
gnomAD
CA398127968
rs1298975084
1176 Q>H No ClinGen
gnomAD
rs1016961248
CA287741760
1177 K>E No ClinGen
Ensembl
rs763117570
CA8385762
1178 M>L No ClinGen
ExAC
gnomAD
CA8385761
rs377480217
1178 M>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8385760
rs200861648
1179 R>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA8385759
rs369467746
1179 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA398127886
rs1417054667
1181 D>G No ClinGen
gnomAD
rs201388234
CA8385758
1183 E>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8385756
rs745708457
1186 T>N No ClinGen
ExAC
gnomAD
CA398127782
rs1181765369
1188 Q>R No ClinGen
TOPMed
rs370432284
CA8385752
1190 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA8385753
rs370432284
1190 E>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1291647653
CA398127682
1194 A>V No ClinGen
gnomAD
rs201278580
CA287741741
1197 R>W No ClinGen
1000Genomes
CA8385751
rs777289023
1198 K>N No ClinGen
ExAC
gnomAD
rs1165541592
CA398127608
1200 Q>E No ClinGen
TOPMed
rs755680069
CA8385750
1201 A>P No ClinGen
ExAC
TOPMed
gnomAD
rs528087450
CA8385749
1201 A>V No ClinGen
1000Genomes
ExAC
gnomAD
rs1232023424
CA398127537
1204 V>A No ClinGen
gnomAD
CA398127546
rs1379998480
1204 V>M No ClinGen
gnomAD
CA8385747
rs199750347
1206 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA8385746
rs752037123
1207 L>P No ClinGen
ExAC
gnomAD
rs371686538
CA287741714
1208 G>R No ClinGen
ESP
rs773375344
CA8385744
1209 E>K No ClinGen
ExAC
gnomAD
rs773375344
CA8385743
1209 E>Q No ClinGen
ExAC
gnomAD
CA398127464
rs1162644632
1210 Q>E No ClinGen
gnomAD
CA8385742
rs202062172
1210 Q>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs143068181
CA8385741
1211 I>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA8385740
rs776899803
1215 Q>* No ClinGen
ExAC
gnomAD
rs563131895
CA8385738
1216 R>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs563131895
CA8385737
1216 R>P No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA8385736
rs563131895
1216 R>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA8385739
COSM124594
rs768831406
1216 R>W upper_aerodigestive_tract Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1597888863
CA398127279
1221 L>M No ClinGen
Ensembl
rs747666091
CA8385731
1224 E>Q No ClinGen
ExAC
TOPMed
gnomAD
CA287741678
rs934580244
1225 K>E No ClinGen
gnomAD
rs371722783
CA8385727
1225 K>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8385728
rs754626370
1225 K>T No ClinGen
ExAC
TOPMed
gnomAD
rs1486690591
CA398127180
1226 S>I No ClinGen
TOPMed
rs1486690591
CA398127185
1226 S>N No ClinGen
TOPMed
CA398127168
rs12103825
1226 S>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs758911088
CA8385724
COSM1216161
1227 E>K large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs61745305
CA8385722
1232 I>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs61745305
CA8385721
1232 I>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1328142213
CA398126997
1233 D>N No ClinGen
TOPMed
gnomAD
rs202142602
CA8385717
1234 D>N No ClinGen
ExAC
TOPMed
gnomAD
rs202142602
CA8385718
1234 D>Y No ClinGen
ExAC
TOPMed
gnomAD
rs981227554
CA287741660
1235 M>T No ClinGen
TOPMed
CA8385716
rs770715157
1236 A>S No ClinGen
ExAC
gnomAD
rs373664915
CA8385715
1237 S>N No ClinGen
ESP
ExAC
gnomAD
rs138500879
CA398126822
1238 N>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1284837273
CA398126807
1239 I>N No ClinGen
gnomAD
rs1243212451
CA398126760
1240 E>D No ClinGen
TOPMed
COSM276202
rs376739694
CA8385712
1240 E>K Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA398126744
rs1597888788
1241 A>D No ClinGen
Ensembl
CA287741654
rs780615018
1241 A>S No ClinGen
ExAC
gnomAD
rs780615018
CA8385711
1241 A>T No ClinGen
ExAC
gnomAD
CA8385709
rs746689351
1242 L>F No ClinGen
ExAC
gnomAD
rs867218948
CA287741649
1243 S>F No ClinGen
Ensembl
CA8385708
rs780510229
1246 K>E No ClinGen
ExAC
gnomAD
CA398125323
rs1387646246
1247 S>N No ClinGen
gnomAD
CA8385693
rs567533398
1249 I>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs746577108
CA398125200
1252 T>K No ClinGen
ExAC
TOPMed
gnomAD
rs746577108
CA8385692
1252 T>M No ClinGen
ExAC
TOPMed
gnomAD
rs779170976
CA8385688
1254 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA8385690
rs549280731
1254 R>W No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
COSM435967
CA8385686
rs754307803
1255 T>M Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
COSM975116
rs373421683
CA8385684
1256 V>I Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1406648449
CA398125074
1257 E>D No ClinGen
gnomAD
rs868306070
CA287740608
1259 Q>* No ClinGen
Ensembl
rs767692504
CA8385682
1259 Q>H No ClinGen
ExAC
gnomAD
CA8385683
rs752837863
1259 Q>L No ClinGen
ExAC
TOPMed
gnomAD
CA8385681
rs759803356
1261 S>N No ClinGen
ExAC
TOPMed
gnomAD
CA398124908
rs1359439398
1263 I>M No ClinGen
TOPMed
CA398124905
rs1567658311
1264 K>Q No ClinGen
Ensembl
rs750183311
CA8385680
1265 A>V No ClinGen
ExAC
gnomAD
CA398124856
rs1486313438
1266 K>Q No ClinGen
gnomAD
CA8385678
rs375797285
1267 D>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1213706575
CA398124835
1267 D>G No ClinGen
TOPMed
gnomAD
COSM333570
rs201895556
CA8385679
1267 D>N lung [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs866115089
CA287740584
1268 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA8385675
rs760233403
1269 Q>R No ClinGen
ExAC
gnomAD
rs1382640785
CA398124734
1270 Q>R No ClinGen
gnomAD
rs771804396
CA8385673
1271 T>K No ClinGen
ExAC
gnomAD
rs745540840
CA8385672
1272 Q>E No ClinGen
ExAC
TOPMed
gnomAD
CA8385669
rs182508114
1274 I>F No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs778244040
CA8385667
1274 I>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs756650312
CA8385666
1275 H>Y No ClinGen
ExAC
TOPMed
gnomAD
rs76205959
CA8385662
COSM1380702
1279 M>I large_intestine [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA8385664
rs773824073
1279 M>R No ClinGen
ExAC
gnomAD
rs773824073
CA8385663
1279 M>T No ClinGen
ExAC
gnomAD
CA8385665
rs532469367
1279 M>V No ClinGen
1000Genomes
ExAC
gnomAD
TCGA novel 1280 Q>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 1282 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs766683819
CA8385661
1283 R>T No ClinGen
ExAC
gnomAD
rs753708003 1288 N>= Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
CA8385643
rs758696446
1289 G>E No ClinGen
ExAC
gnomAD
CA398124224
rs1332585363
1289 G>R No ClinGen
gnomAD
rs771528632
CA8385639
1293 H>L No ClinGen
ExAC
CA398124051
rs1490227000
1293 H>R No ClinGen
TOPMed
CA8385640
rs753639124
1293 H>Y No ClinGen
ExAC
rs17690195
CA8385637
1294 R>P No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA8385636
rs17690195
VAR_030233
1294 R>Q No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA398123980
rs1176367694
1298 K>E No ClinGen
TOPMed
CA398123976
rs1309729045
1298 K>R No ClinGen
gnomAD
CA8385634
rs72814731
1299 E>D No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA287740436
rs891764336
1299 E>Q No ClinGen
TOPMed
CA398123947
rs1296808013
1300 S>F No ClinGen
gnomAD
CA8385633
rs200968432
1301 L>P No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs139070154
CA8385632
1305 L>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA8385630
rs762689271
1306 T>I No ClinGen
ExAC
TOPMed
gnomAD
CA398123883
rs762689271
1306 T>N No ClinGen
ExAC
TOPMed
gnomAD
rs773526179
CA8385629
1308 S>I No ClinGen
ExAC
gnomAD
rs1429274668
CA398123830
1310 Q>E No ClinGen
gnomAD
TCGA novel 1310 Q>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8385628
rs770146998
1311 A>D No ClinGen
ExAC
TOPMed
gnomAD
COSM3361984
CA398123782
rs1375222358
1314 Q>* kidney [Cosmic] No ClinGen
cosmic curated
TOPMed
TCGA novel 1316 L>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 1317 E>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA398123733
rs1359018527
CA398123735
1317 E>D No ClinGen
TOPMed
CA8385626
rs777120946
1318 E>K No ClinGen
ExAC
gnomAD
CA398123697
rs747038495
1320 K>M No ClinGen
ExAC
TOPMed
gnomAD
CA8385624
rs747038495
1320 K>T No ClinGen
ExAC
TOPMed
gnomAD
CA8385623
COSM321854
rs376199191
1323 M>T lung [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
rs1438288979
CA398123636
1324 E>* No ClinGen
TOPMed
CA398123624
rs1203789455
1325 E>K No ClinGen
TOPMed
CA398123591
rs1355155493
1327 T>A No ClinGen
gnomAD
rs1260810100
CA398123569
1328 K>N No ClinGen
TOPMed
gnomAD
TCGA novel 1329 A>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1293054234
CA398122750
1329 A>T No ClinGen
gnomAD
rs530640003
CA8385599
1332 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs187366324
CA8385598
1333 M>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA398122689
rs201679022
1334 A>E No ClinGen
1000Genomes
TOPMed
gnomAD
TCGA novel 1334 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA287739476
rs201679022
1334 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
NCI-TCGA
TOPMed
gnomAD
CA398122681
rs1382911206
1335 H>D No ClinGen
gnomAD
rs754830808
CA398122669
1335 H>Q No ClinGen
ExAC
TOPMed
gnomAD
rs779371167
CA8385595
1336 A>D No ClinGen
ExAC
TOPMed
gnomAD
CA8385594
rs779371167
1336 A>G No ClinGen
ExAC
TOPMed
gnomAD
rs1461899559
CA398122666
1336 A>T Variant assessed as Somatic; 4.622e-05 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1597885667
CA398122638
1338 Q>R No ClinGen
Ensembl
rs555474509
CA8385592
1339 S>F No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA398122609
rs1373261172
1340 S>P No ClinGen
gnomAD
rs201735784
CA8385591
1341 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs368423742
CA8385590
COSM1470912
1341 R>H prostate [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
CA8385589
rs754113209
1342 H>D No ClinGen
ExAC
gnomAD
rs764526785
CA8385588
1342 H>R No ClinGen
ExAC
gnomAD
rs1031239878
CA287739425
1343 D>E No ClinGen
TOPMed
rs776054661
CA398122550
1343 D>H No ClinGen
ExAC
TOPMed
rs776054661
CA8385586
1343 D>N No ClinGen
ExAC
TOPMed
CA398122523
rs1273161090
1344 C>R No ClinGen
gnomAD
CA398122517
rs1199347971
1344 C>Y No ClinGen
gnomAD
CA287739413
rs201932409
1345 D>E No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA8385584
rs772775694
1345 D>N No ClinGen
ExAC
gnomAD
TCGA novel 1345 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1473113435
CA398122478
1346 L>M No ClinGen
TOPMed
CA398122469
rs1392102024
1346 L>P No ClinGen
TOPMed
rs1392102024
CA398122468
1346 L>R No ClinGen
TOPMed
CA8385579
rs200236843
1348 R>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8385580
rs200236843
1348 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1051299191
CA287739405
1348 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA398122383
rs1393616202
COSM3795255
1351 Y>* Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs796336172
CA287739400
1351 Y>C No ClinGen
gnomAD
rs780782625
CA8385578
1352 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA8385576
rs746836223
1354 E>K No ClinGen
ExAC
gnomAD
CA287739379
rs902751527
1357 A>D No ClinGen
TOPMed
gnomAD
CA398122235
rs902751527
1357 A>G No ClinGen
TOPMed
gnomAD
CA398122232
rs1457854479
1358 K>E No ClinGen
gnomAD
rs371382799
CA8385572
1360 E>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8385571
rs371382799
1360 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 1361 L>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1220031153
CA398122153
1361 L>V No ClinGen
gnomAD
CA8385570
rs199890413
1362 Q>* No ClinGen
ExAC
TOPMed
gnomAD
COSM4141968
rs753546519
CA8385569
1363 R>K ovary [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs763716572
CA8385568
1364 A>P No ClinGen
ExAC
TOPMed
gnomAD
rs1480451850
CA398122100
1364 A>V No ClinGen
TOPMed
rs1370387214
CA398122072
1366 S>P No ClinGen
gnomAD
rs946903100
CA398122030
1368 A>P No ClinGen
TOPMed
gnomAD
rs946903100
CA287739366
1368 A>S No ClinGen
TOPMed
gnomAD
rs1355108219
CA398122018
1368 A>V No ClinGen
TOPMed
gnomAD
rs1376861349
CA398121957
1371 E>G No ClinGen
TOPMed
gnomAD
rs760137733
CA8385564
1372 V>I No ClinGen
ExAC
gnomAD
rs62060459
CA287739343
1373 A>D Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
rs1433507557
CA398121939
1373 A>T No ClinGen
gnomAD
TCGA novel 1374 Q>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 1375 W>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8385562
rs766570174
1375 W>S No ClinGen
ExAC
gnomAD
rs773470485
CA8385559
1377 T>I No ClinGen
ExAC
TOPMed
gnomAD
CA8385555
COSM3736151
rs376810508
1380 E>K skin [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
CA8385556
rs376810508
1380 E>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8385553
rs754450155
1381 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs4791401
CA398121737
1382 D>E No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA8385551
rs748820887
1382 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA8385549
rs755767957
1383 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA398121719
rs1483583986
1383 A>V No ClinGen
TOPMed
rs1025550452
CA287739265
1384 I>T No ClinGen
TOPMed
rs374720516
CA8385548
1384 I>V No ClinGen
ESP
ExAC
gnomAD
COSM3370598
rs755466170
CA8385544
1386 R>C Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs752124917
CA8385543
1386 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs1158531402
CA398121606
1389 E>D No ClinGen
gnomAD
rs372740212
CA8385540
1389 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs765451029
CA8385539
1390 L>P No ClinGen
ExAC
gnomAD
CA398121603
rs1471789421
1390 L>V No ClinGen
gnomAD
TCGA novel 1391 E>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 1391 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1485458248
CA398121571
1393 A>T No ClinGen
gnomAD
rs1177704379
CA398121564
1393 A>V No ClinGen
TOPMed
rs760402984 1396 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs760402984 1397 L>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
CA8385507
rs772708851
1398 A>S No ClinGen
ExAC
TOPMed
gnomAD
rs150690480
CA8385506
1398 A>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA8385505
rs747717096
1400 R>K No ClinGen
ExAC
gnomAD
CA8385504
rs201095259
1400 R>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs997564905
CA287739012
1401 L>I No ClinGen
Ensembl
rs901821601
CA287739011
1404 A>E No ClinGen
gnomAD
rs373425936
CA8385503
COSM1479196
1408 T>M Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA8385501
rs780314509
1409 E>G No ClinGen
ExAC
gnomAD
rs367803525
COSM975110
CA8385500
1410 T>M Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs757283120
CA398121137
1411 A>E No ClinGen
ExAC
TOPMed
gnomAD
rs779532801
CA8385498
1411 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs757283120
CA8385497
1411 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA398121102
rs1369328582
1413 S>Y No ClinGen
TOPMed
CA398121094
rs1300252910
1414 K>T No ClinGen
gnomAD
CA398121046
rs751311864
1416 A>S No ClinGen
ExAC
TOPMed
gnomAD
COSM283016
CA8385493
rs751311864
1416 A>T Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1290440648
CA398121020
1417 S>L No ClinGen
gnomAD
CA398120878
rs1395786533
1423 Q>* No ClinGen
gnomAD
rs934463082
CA287738986
1426 Q>* No ClinGen
Ensembl
rs201851205
CA287738983
1429 V>A No ClinGen
1000Genomes
rs201851205
CA398120706
1429 V>G No ClinGen
1000Genomes
CA398120669
rs1192862595
1431 D>N No ClinGen
TOPMed
gnomAD
TCGA novel 1431 D>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA398120671
rs1192862595
1431 D>Y No ClinGen
TOPMed
gnomAD
rs374608340
CA8385488
1433 M>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8385489
rs769835308
1433 M>R No ClinGen
ExAC
gnomAD
CA8385485
rs200183030
1434 R>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs182969012
CA8385486
1434 R>W No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA398120550
rs1555548797
1435 D>Y No ClinGen
Ensembl
CA287738973
rs1045888895
1437 E>K No ClinGen
TOPMed
gnomAD
CA287738972
rs1045888895
1437 E>Q No ClinGen
TOPMed
gnomAD
rs141961168
CA8385484
1438 R>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs546103209
CA8385483
1438 R>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA398120477
rs546103209
1438 R>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA398120486
rs141961168
1438 R>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs746313963
CA8385482
1439 S>P No ClinGen
ExAC
gnomAD
rs1329823809
CA398120426
1440 H>P No ClinGen
gnomAD
rs1597885143
CA398120413
1441 T>P No ClinGen
Ensembl
CA8385480
rs541715049
1442 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs749320412
CA8385479
1443 C>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs777858413
CA8385478
1445 T>A No ClinGen
ExAC
TOPMed
gnomAD
CA8385476
rs201251488
1446 L>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA398120322
rs1264254187
1446 L>P No ClinGen
TOPMed
gnomAD
CA398120325
rs201251488
1446 L>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA287738962
rs909428858
1447 D>A No ClinGen
gnomAD
rs1365419486
CA398120267
1450 Q>* No ClinGen
gnomAD
rs1368070329
CA398120219
1452 N>Y No ClinGen
TOPMed
rs750271034
CA8385472
1454 D>N No ClinGen
ExAC
TOPMed
gnomAD
CA398120148
rs1189872936
1455 K>N No ClinGen
TOPMed
gnomAD
TCGA novel 1456 V>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8385455
rs750136726
1456 V>L No ClinGen
ExAC
gnomAD
rs1296380297
CA398119997
1457 L>F No ClinGen
gnomAD
CA8385454
rs542012126
1458 A>E No ClinGen
1000Genomes
ExAC
gnomAD
rs757204394
CA8385453
1460 W>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA287738803
rs957983850
1461 K>T No ClinGen
TOPMed
rs753814640
CA8385452
1464 L>P Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA8385451
rs760233774
1465 D>E No ClinGen
ExAC
TOPMed
gnomAD
rs1461732566
CA398119783
1465 D>N No ClinGen
gnomAD
rs767032047
CA8385448
1466 E>G No ClinGen
ExAC
TOPMed
gnomAD
COSM3402569
rs775118096
CA8385449
1466 E>K Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 1467 S>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 1468 Q>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1374200434
CA398119687
1470 E>A No ClinGen
TOPMed
CA8385447
rs759268800
1471 L>M No ClinGen
ExAC
gnomAD
rs774509283
CA8385446
1474 A>D No ClinGen
ExAC
CA398118407
rs1033938431
1476 K>E No ClinGen
TOPMed
gnomAD
CA287738781
rs1033938431
1476 K>Q No ClinGen
TOPMed
gnomAD
rs771295641
CA8385445
1477 E>K No ClinGen
ExAC
CA398118360
rs1597884834
1478 S>C No ClinGen
Ensembl
rs749707978
CA8385444
1479 R>K No ClinGen
ExAC
TOPMed
gnomAD
rs773702019
CA8385443
1480 S>P No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 1482 S>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1452495963
CA398118306
1482 S>R No ClinGen
gnomAD
rs770323060
CA8385442
1484 E>D No ClinGen
ExAC
gnomAD
TCGA novel 1484 E>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA398118264
rs1567656659
1485 L>F No ClinGen
Ensembl
CA8385441
rs748152739
1487 K>N No ClinGen
ExAC
gnomAD
rs1208497787
CA398118225
1487 K>R No ClinGen
gnomAD
rs781353020
CA8385440
1488 M>V No ClinGen
ExAC
gnomAD
rs768720710
CA8385439
1489 R>K No ClinGen
ExAC
TOPMed
gnomAD
rs1305446034
CA398118138
1491 A>V No ClinGen
TOPMed
gnomAD
CA8385437
rs780481771
1496 V>L No ClinGen
ExAC
gnomAD
TCGA novel 1498 Q>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs757114637
CA8385436
1499 L>V No ClinGen
ExAC
gnomAD
rs1233688735
CA398117956
1501 T>I No ClinGen
TOPMed
CA398117946
rs1014050339
1502 L>M No ClinGen
TOPMed
rs372298751
CA8385434
1502 L>P No ClinGen
ESP
ExAC
gnomAD
CA8385435
rs372298751
1502 L>Q No ClinGen
ESP
ExAC
gnomAD
COSM3402567
CA287738736
rs752113103
1504 R>* Variant assessed as Somatic; 0.0001393 impact. central_nervous_system [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA398117909
rs767062297
1504 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA8385431
rs767062297
1504 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA8385430
rs759048237
1505 E>G No ClinGen
ExAC
gnomAD
CA398117903
rs1193785498
1505 E>Q No ClinGen
gnomAD
rs1197173164
CA398117871
1506 N>K No ClinGen
TOPMed
gnomAD
CA8385429
rs751195744
1506 N>S No ClinGen
ExAC
gnomAD
rs752690078
CA8385414
1514 S>Y No ClinGen
ExAC
gnomAD
rs760905233
CA8385412
1515 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs376842597
CA8385410
1517 T>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs762615342
CA8385409
1517 T>N No ClinGen
ExAC
gnomAD
rs765638189
CA8385407
1518 E>K No ClinGen
ExAC
gnomAD
rs762142769
CA8385406
1519 Q>L No ClinGen
ExAC
gnomAD
rs992745648
CA287738561
1520 I>T No ClinGen
TOPMed
CA8385405
rs777192178
1521 A>E No ClinGen
ExAC
gnomAD
CA287738558
rs777192178
1521 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
TCGA novel 1524 G>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs892264453
CA287738555
1527 L>P No ClinGen
TOPMed
CA8385404
rs559498588
1529 E>Q No ClinGen
1000Genomes
ExAC
gnomAD
rs372267098
CA8385403
1530 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1341715259
CA398117084
1532 K>E No ClinGen
gnomAD
rs1420246472
CA398116957
1534 K>M No ClinGen
gnomAD
rs1408362307
CA398116899
1537 V>M No ClinGen
TOPMed
CA398116869
rs1597884520
1538 E>K No ClinGen
Ensembl
rs1399912327
CA398116676
1540 E>G No ClinGen
TOPMed
rs1182672588
CA398116632
1541 K>E No ClinGen
gnomAD
TCGA novel 1544 L>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8385400
rs746095996
1544 L>R No ClinGen
ExAC
gnomAD
CA398116436
TCGA novel
rs1597884503
1546 V>A Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
Ensembl
CA8385398
rs761657838
1547 A>S No ClinGen
ExAC
gnomAD
CA8385397
rs761657838
1547 A>T No ClinGen
ExAC
gnomAD
rs754918823
CA8385395
1548 L>* No ClinGen
ExAC
TOPMed
gnomAD
CA287738532
rs952445866
1548 L>V No ClinGen
Ensembl
rs1331025837
CA398116236
1552 E>K No ClinGen
TOPMed
CA8385376
rs746952415
1553 G>V No ClinGen
ExAC
gnomAD
CA8385374
rs757900706
1554 S>A No ClinGen
ExAC
gnomAD
rs1457763442
CA398115092
1554 S>F No ClinGen
gnomAD
TCGA novel 1554 S>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1043449603
CA287738020
1555 L>* No ClinGen
TOPMed
CA398115001
rs1171008511
1557 H>R No ClinGen
gnomAD
CA287738011
rs866092202
COSM124592
1558 E>K upper_aerodigestive_tract [Cosmic] No ClinGen
cosmic curated
gnomAD
rs866893623
CA287738009
1559 E>* No ClinGen
gnomAD
TCGA novel 1560 S>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs995880377
CA287738006
1561 K>E No ClinGen
Ensembl
TCGA novel 1561 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1468101612
CA398114831
1562 I>N No ClinGen
Ensembl
CA8385373
rs146716231
1564 R>C No ClinGen
1000Genomes
ExAC
gnomAD
rs146716231
CA8385372
1564 R>G No ClinGen
1000Genomes
ExAC
gnomAD
CA398114765
rs367901073
1564 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8385371
rs367901073
1564 R>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs202237890
CA8385370
1565 V>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA398114732
rs1567655975
1566 Q>* No ClinGen
Ensembl
rs764373842
CA8385369
1566 Q>L No ClinGen
ExAC
gnomAD
rs756634855
CA8385368
1568 E>G No ClinGen
ExAC
gnomAD
CA398114689
rs1190386215
1568 E>Q No ClinGen
gnomAD
CA287737975
rs916490907
1569 L>Q No ClinGen
TOPMed
CA287737974
rs796349653
1572 V>L No ClinGen
TOPMed
rs753247215
CA8385367
1574 S>F No ClinGen
ExAC
gnomAD
rs890967500
CA287737971
1575 E>K No ClinGen
TOPMed
gnomAD
CA398114408
rs1427470488
1578 R>G No ClinGen
TOPMed
CA398114374
rs1459086593
1578 R>H No ClinGen
TOPMed
CA8385366
rs768200909
1579 K>N No ClinGen
ExAC
TOPMed
gnomAD
CA398114298
rs1386523136
1580 V>I No ClinGen
gnomAD
rs1388062678
CA398114254
1581 I>T No ClinGen
TOPMed
rs1410651705
CA398114220
1582 E>G No ClinGen
gnomAD
rs759654579
CA8385365
1582 E>Q No ClinGen
ExAC
gnomAD
CA287737957
rs866053819
1583 K>N No ClinGen
Ensembl
TCGA novel 1584 D>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 1584 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA398114050
rs774346836
1588 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA8385364
rs774346836
1588 E>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1378082198
CA398113855
1592 R>S No ClinGen
gnomAD
CA398113840
rs1597883770
1593 N>T No ClinGen
Ensembl
CA8385362
rs199949513
1596 R>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA8385359
rs768453663
1596 R>Q No ClinGen
ExAC
gnomAD
rs199949513
CA8385361
1596 R>W No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1439676380
CA398113582
1598 A>G No ClinGen
gnomAD
CA398113510
rs1352091066
1599 E>D No ClinGen
TOPMed
rs532024762
CA8385358
1599 E>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA287737935
rs1049526003
1599 E>Q No ClinGen
gnomAD
CA8385356
rs374285361
1601 L>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8385355
rs745333168
1602 Q>K No ClinGen
ExAC
TOPMed
gnomAD
rs748902789
CA8385352
1604 V>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA398113242
rs1229439527
1605 L>P No ClinGen
gnomAD
TCGA novel 1605 L>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA287737903
rs932404460
1606 D>V No ClinGen
Ensembl
rs1597883718
COSM559554
CA398113070
1610 R>C lung [Cosmic] No ClinGen
cosmic curated
Ensembl
CA8385351
rs777536390
COSM1237861
1610 R>H ovary thyroid [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
CA287737894
rs563245515
1612 R>Q No ClinGen
gnomAD
CA398113027
rs1397816473
1612 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA398112954
rs753157072
1613 N>K No ClinGen
ExAC
gnomAD
rs924997487
CA287737888
1613 N>Y No ClinGen
Ensembl
CA8385348
rs35069886
1614 D>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA8385347
rs199946468
1615 A>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA398112909
rs199946468
1615 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs983236846
CA287737879
1618 L>R No ClinGen
TOPMed
rs1328716878
CA398112740
1621 K>N No ClinGen
Ensembl
CA8385344
CA287737869
rs766374585
1622 M>I No ClinGen
ExAC
TOPMed
gnomAD
rs1411463328
CA398112730
1622 M>T No ClinGen
TOPMed
rs751619893
CA8385346
1622 M>V No ClinGen
ExAC
gnomAD
rs763178092
CA8385343
1624 G>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs996136735
CA287737861
1625 D>A No ClinGen
TOPMed
gnomAD
rs960291930
CA287737862
1625 D>N No ClinGen
TOPMed
CA8385341
rs765483543
1626 L>V No ClinGen
ExAC
gnomAD
CA398112607
rs1410167130
1627 N>T No ClinGen
TOPMed
CA398112598
rs1209693480
1628 E>K No ClinGen
gnomAD
CA398112555
rs1328938070
1629 M>I No ClinGen
gnomAD
rs1247273471
CA398112519
1630 E>D No ClinGen
gnomAD
rs760439258
CA8385340
1630 E>K No ClinGen
ExAC
gnomAD
rs1035881618
CA287737856
1632 Q>L No ClinGen
Ensembl
rs775285422
CA8385339
1635 H>N No ClinGen
ExAC
TOPMed
gnomAD
rs1378410067
CA398112407
1637 N>T No ClinGen
gnomAD
rs771955776
CA398112391
1638 R>C No ClinGen
ExAC
gnomAD
CA8385338
rs771955776
1638 R>G No ClinGen
ExAC
gnomAD
CA398112389
rs1567655857
1638 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
CA287737831
rs770585495
1640 M>I No ClinGen
TOPMed
gnomAD
CA8385337
rs553870585
1640 M>L No ClinGen
1000Genomes
ExAC
CA398112362
rs1451371258
1640 M>T No ClinGen
TOPMed
gnomAD
TCGA novel 1641 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1456449161
CA398112281
1645 K>R No ClinGen
gnomAD
rs1386201619
CA398112269
1646 H>Y No ClinGen
gnomAD
CA8385336
rs773850780
1647 L>P No ClinGen
ExAC
gnomAD
rs375642990
CA8385335
1648 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs201701352
COSM1216155
CA8385333
1648 R>H large_intestine [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
rs201701352
CA8385334
1648 R>P No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA8385332
rs556320995
1649 T>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs781716026
CA398112185
1650 V>A No ClinGen
ExAC
TOPMed
gnomAD
CA8385330
rs781716026
1650 V>G No ClinGen
ExAC
TOPMed
gnomAD
CA398112174
rs1464680763
1651 Q>R No ClinGen
gnomAD
CA398112147
rs1266623949
1652 G>A No ClinGen
TOPMed
gnomAD
rs377429569
CA8385327
1653 Q>* No ClinGen
ESP
ExAC
gnomAD
TCGA novel 1653 Q>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8385326
rs199716200
1654 L>F No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs747474836
CA8385311
1656 D>H No ClinGen
ExAC
TOPMed
gnomAD
rs747474836
CA8385310
1656 D>Y No ClinGen
ExAC
TOPMed
gnomAD
CA398112007
rs1212570961
1657 S>Y No ClinGen
TOPMed
rs758965976
CA8385309
1658 Q>E No ClinGen
ExAC
gnomAD
rs866735378
CA287737771
1658 Q>H No ClinGen
gnomAD
CA8385308
rs758965976
1658 Q>K No ClinGen
ExAC
gnomAD
rs745906441
CA8385307
1658 Q>R No ClinGen
ExAC
gnomAD
TCGA novel 1660 H>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA398111952
rs1197798249
1662 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs903650408
CA287737763
1663 D>E No ClinGen
TOPMed
gnomAD
rs1043846802
CA287737756
1664 A>P No ClinGen
TOPMed
gnomAD
TCGA novel 1664 A>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1043846802
CA398111920
1664 A>T No ClinGen
TOPMed
gnomAD
rs1204463026
CA398111896
1666 R>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs754043056
CA8385304
1667 S>G No ClinGen
ExAC
gnomAD
rs1219750358
CA398111881
1667 S>T No ClinGen
gnomAD
rs764363889
CA8385303
1668 N>S No ClinGen
ExAC
TOPMed
gnomAD
CA398111841
rs1597883485
1670 D>A No ClinGen
Ensembl
rs754693958
CA8385301
1671 L>F No ClinGen
ExAC
gnomAD
rs1176374196
CA398111820
1672 K>Q No ClinGen
TOPMed
CA8385298
rs762982342
1673 E>A No ClinGen
ExAC
gnomAD
rs140856441
CA8385299
1673 E>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs375501891
CA8385297
1674 Q>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs761469071
CA8385295
1676 A>T No ClinGen
ExAC
gnomAD
CA8385294
rs776419097
1676 A>V No ClinGen
ExAC
gnomAD
rs1181730146
CA398111747
1678 V>M No ClinGen
TOPMed
gnomAD
CA398111732
rs1360361915
1679 E>A No ClinGen
TOPMed
CA8385293
rs768403556
1680 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs747286137
CA8385292
COSM1216153
1680 R>H Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs747286137
CA398111715
1680 R>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs775952625
CA8385290
1681 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs1441750504
CA398111709
1681 R>K No ClinGen
gnomAD
CA398111701
rs1597883442
1681 R>S No ClinGen
Ensembl
CA8385288
rs536216236
1683 G>S No ClinGen
1000Genomes
ExAC
gnomAD
CA8385287
rs554828485
1687 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA398111644
rs1221703851
1688 E>K No ClinGen
gnomAD
CA398111616
rs1284244783
1689 L>V No ClinGen
gnomAD
CA398111556
rs150933986
CA8385284
1692 M>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1465387451
CA398111549
1693 K>* No ClinGen
TOPMed
CA398111539
rs1567655654
1694 V>M No ClinGen
Ensembl
CA398111459
rs1389854487
1697 E>Q No ClinGen
gnomAD
rs374001883
CA8385283
1699 T>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA398111355
rs1567655646
1700 E>G No ClinGen
Ensembl
rs369483001
CA287737690
1700 E>K No ClinGen
TOPMed
gnomAD
rs200612449
CA8385282
1701 R>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA8385281
rs374764673
1701 R>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA287737686
rs374764673
COSM1290622
1701 R>Q Variant assessed as Somatic; 0.0 impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA8385276
rs765333403
1702 T>N No ClinGen
ExAC
gnomAD
CA8385279
rs371176503
1702 T>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs765333403
CA8385277
1702 T>S No ClinGen
ExAC
gnomAD
rs371176503
CA8385278
1702 T>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs142532419
CA8385274
COSM3402565
1703 R>H Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA8385275
rs142532419
1703 R>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA8385273
rs763612530
1704 R>W No ClinGen
ExAC
gnomAD
CA8385272
rs760378346
1706 S>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1290174163
CA398111251
1707 E>Q No ClinGen
gnomAD
CA8385269
rs200581369
1708 Q>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs775658465
CA8385271
1708 Q>K No ClinGen
ExAC
gnomAD
CA8385270
rs772467798
1708 Q>R No ClinGen
ExAC
gnomAD
CA8385268
rs774804971
1709 E>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1366641924
CA398111148
1710 L>V No ClinGen
gnomAD
rs771473458
CA8385267
1713 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs777944342
CA8385265
1715 D>N No ClinGen
ExAC
gnomAD
rs777944342
CA398111040
1715 D>Y No ClinGen
ExAC
gnomAD
TCGA novel 1716 R>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8385264
rs550310783
1716 R>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA398110995
rs550310783
1716 R>P No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1567655600
CA398110930
1718 Q>H No ClinGen
Ensembl
CA8385262
rs781329038
1718 Q>P Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs749797884
CA287737620
1719 L>I No ClinGen
Ensembl
rs758265279
CA8385261
1719 L>P No ClinGen
ExAC
TOPMed
gnomAD
rs778944544
CA8385259
1722 S>F No ClinGen
ExAC
gnomAD
CA398110806
rs753219040
1723 Q>L No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 1723 Q>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8385257
rs753219040
1723 Q>R No ClinGen
ExAC
TOPMed
gnomAD
rs1410438667
CA398109296
1725 T>I No ClinGen
gnomAD
rs1303124925
CA398109288
1726 S>N No ClinGen
gnomAD
CA287736998
rs941799735
1727 L>R No ClinGen
Ensembl
rs973604088
CA287737001
1727 L>V No ClinGen
gnomAD
rs1296582763
CA398109266
1728 I>T No ClinGen
gnomAD
CA398109234
rs1368242647
1731 K>E No ClinGen
TOPMed
rs376331966
CA8385232
1732 K>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8385231
rs751858574
1732 K>I No ClinGen
ExAC
gnomAD
rs1175413675
CA398109209
1732 K>N No ClinGen
TOPMed
gnomAD
TCGA novel 1736 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1465129047
CA398109151
1737 D>G No ClinGen
TOPMed
rs550576967
CA287736991
1738 I>T No ClinGen
1000Genomes
CA8385229
rs766746268
1739 A>S No ClinGen
ExAC
gnomAD
CA287736989
rs868080632
1744 E>D No ClinGen
Ensembl
rs763287635
CA8385228
1744 E>K No ClinGen
ExAC
gnomAD
CA398109045
rs1597882381
1745 V>M No ClinGen
Ensembl
rs369023941
CA8385227
1746 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA398108956
rs1408118112
1748 S>L No ClinGen
TOPMed
CA398108941
rs990059671
1749 I>M No ClinGen
TOPMed
gnomAD
rs761931528
CA398108944
1749 I>S No ClinGen
ExAC
TOPMed
gnomAD
CA8385225
rs761931528
1749 I>T No ClinGen
ExAC
TOPMed
gnomAD
CA287736982
rs983178964
1750 Q>* No ClinGen
Ensembl
CA398108929
rs1406129737
1750 Q>H No ClinGen
Ensembl
TCGA novel 1752 S>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1257123887
CA398108897
1752 S>Y No ClinGen
gnomAD
CA398108887
rs1263784069
1753 R>G No ClinGen
gnomAD
CA398108834
rs768932070
1755 A>S No ClinGen
ExAC
TOPMed
gnomAD
rs768932070
CA8385223
1755 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA398108821
rs1270182823
1755 A>V No ClinGen
gnomAD
rs747245672
CA8385222
1761 K>E No ClinGen
ExAC
gnomAD
CA398108599
rs1567654878
1762 A>T No ClinGen
Ensembl
rs192011217
CA8385220
1764 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA398108506
rs1336008287
1765 D>Y No ClinGen
gnomAD
CA8385195
rs754482604
1766 A>G No ClinGen
ExAC
gnomAD
CA398108323
rs1243939989
1766 A>T No ClinGen
gnomAD
CA8385193
rs779660813
1768 M>V No ClinGen
ExAC
gnomAD
CA398108231
rs1324478666
1770 A>P No ClinGen
gnomAD
rs892828912
CA287736856
1771 E>K No ClinGen
TOPMed
gnomAD
rs1294179486
CA398108189
1772 E>K No ClinGen
gnomAD
CA398108148
rs1294162732
1774 K>Q No ClinGen
TOPMed
rs750760369
CA8385191
1774 K>T No ClinGen
ExAC
gnomAD
CA8385190
rs544634163
1775 K>R No ClinGen
1000Genomes
ExAC
gnomAD
rs574010739
CA8385189
1776 E>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1054513294
CA287736843
1778 D>E No ClinGen
TOPMed
gnomAD
rs1597882142
CA398108033
1779 T>P No ClinGen
Ensembl
rs1371696911
CA398108013
1780 S>G No ClinGen
gnomAD
rs1201518583
CA398107999
1780 S>I No ClinGen
gnomAD
COSM1216147
rs377063691
CA8385187
1781 A>T Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1220304808
CA398107924
1782 H>Q No ClinGen
TOPMed
gnomAD
TCGA novel 1784 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA287736838
rs370257882
1785 R>P No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs370257882
CA8385185
1785 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA8385186
rs760812296
1785 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA287736827
rs868435942
1786 M>I No ClinGen
Ensembl
rs983593518
CA287736836
1786 M>L No ClinGen
Ensembl
rs1597882115
CA398107793
1789 N>T No ClinGen
Ensembl
CA398107730
rs1597882112
1790 L>R No ClinGen
Ensembl
rs1276356511
CA398107722
1791 E>* No ClinGen
gnomAD
rs1567654742
CA398107718
1791 E>A No ClinGen
Ensembl
rs1276356511
CA398107728
1791 E>K No ClinGen
gnomAD
CA287736816
rs933042834
1792 Q>H No ClinGen
Ensembl
CA8385182
rs773006118
COSM1380684
1793 T>M Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs964295625
CA287736806
1798 Q>* No ClinGen
Ensembl
CA398107509
rs1597882095
1798 Q>R No ClinGen
Ensembl
rs187155752
CA8385180
1800 R>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs377199586
CA8385179
1802 D>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs182969555
CA8385176
1808 A>E No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs182969555
CA8385175
1808 A>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs746473894
CA8385177
1808 A>T No ClinGen
ExAC
gnomAD
CA8385174
rs182969555
1808 A>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA8385173
rs539721099
1810 K>T No ClinGen
1000Genomes
ExAC
gnomAD
CA8385171
rs754300115
1812 G>R No ClinGen
ExAC
TOPMed
gnomAD
CA287736770
rs201904067
1813 K>E No ClinGen
1000Genomes
rs778373927
CA8385170
1814 K>* No ClinGen
ExAC
gnomAD
rs1016965350
CA287736762
1816 I>V No ClinGen
TOPMed
CA8385169
rs756716302
1817 Q>R No ClinGen
ExAC
gnomAD
rs1435981859
CA398106843
1820 E>K No ClinGen
TOPMed
gnomAD
rs1435981859
CA398106842
1820 E>Q No ClinGen
TOPMed
gnomAD
CA398106830
rs1280675052
1820 E>V No ClinGen
gnomAD
rs116935297
CA398106789
1822 R>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA8385166
rs777846745
1822 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA8385167
rs116935297
1822 R>W No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA398105275
rs140895457
1824 R>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs374874203
CA8385141
1824 R>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8385139
rs374874203
1824 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8385142
rs140895457
1824 R>W No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA398105255
rs1164342553
COSM3937229
1825 E>K oesophagus [Cosmic] No ClinGen
cosmic curated
gnomAD
rs775259767
CA8385138
1825 E>V No ClinGen
ExAC
gnomAD
rs1486076943
CA398105106
1830 L>R No ClinGen
gnomAD
rs1241104008
CA398105080
1832 V>M No ClinGen
gnomAD
rs528285170
CA287733367
1836 R>G No ClinGen
gnomAD
rs748958560
CA8385133
1836 R>K No ClinGen
ExAC
gnomAD
rs372183463
CA8385132
1836 R>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA287733334
rs953660690
1838 A>T No ClinGen
TOPMed
CA8385131
rs770281302
1838 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs1216624743
CA398104899
1840 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA398104863
rs1270039398
1841 L>P No ClinGen
gnomAD
rs1428854180
CA398104845
1842 K>E No ClinGen
gnomAD
CA8385130
rs748590797
1842 K>R No ClinGen
ExAC
TOPMed
gnomAD
CA398104838
rs748590797
1842 K>T No ClinGen
ExAC
TOPMed
gnomAD
rs1468709287
CA398104822
1843 G>A No ClinGen
TOPMed
TCGA novel 1843 G>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA398104817
rs1303785591
1844 A>D No ClinGen
gnomAD
CA398104811
rs1424134217
1845 H>R No ClinGen
gnomAD
CA398104812
rs1597880706
1845 H>Y No ClinGen
Ensembl
CA398104765
rs1363570958
1846 K>M No ClinGen
gnomAD
rs369185144
CA8385128
1847 Y>* No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs781531789
CA8385129
1847 Y>F No ClinGen
ExAC
gnomAD
rs559233974
CA8385126
1849 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1597880694
CA398104692
1849 R>H No ClinGen
Ensembl
rs1181950176
CA398104633
1851 V>A No ClinGen
TOPMed
rs758559636
CA8385125
1853 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs758559636
CA398104589
1853 E>Q No ClinGen
ExAC
gnomAD
rs760697599
CA8385123
1854 M>V No ClinGen
ExAC
TOPMed
gnomAD
rs752555483
CA8385121
1856 Y>F No ClinGen
ExAC
TOPMed
gnomAD
rs755881748
CA8385122
1856 Y>H No ClinGen
ExAC
gnomAD
rs1157509523
CA398104498
1857 Q>K No ClinGen
TOPMed
rs767313943
CA8385120
1857 Q>R No ClinGen
ExAC
TOPMed
gnomAD
CA8385098
rs761201873
1858 A>D No ClinGen
ExAC
gnomAD
rs761201873
CA8385099
1858 A>G No ClinGen
ExAC
gnomAD
rs1454323843
CA398104373
1859 E>A No ClinGen
gnomAD
CA8385097
rs372224078
1859 E>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs912177822
CA287733066
1860 E>* No ClinGen
Ensembl
CA8385095
rs761531272
1861 D>V No ClinGen
ExAC
TOPMed
gnomAD
VAR_030234
rs3744550
CA8385092
1862 H>R No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA8385093
rs769053503
1862 H>Y No ClinGen
ExAC
TOPMed
gnomAD
CA398104290
rs1250359710
1863 K>E No ClinGen
gnomAD
rs372688195
CA8385091
1863 K>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs772590454
CA8385090
1868 L>F No ClinGen
ExAC
gnomAD
CA287733014
rs745908111
1869 Q>* No ClinGen
ExAC
TOPMed
gnomAD
CA8385089
rs745908111
1869 Q>K No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 1873 D>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs749510137
CA8385086
1873 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs953614598
CA287732970
1875 L>M No ClinGen
TOPMed
gnomAD
TCGA novel 1877 A>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs530814088
CA398104012
1877 A>P No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs530814088
CA8385085
1877 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs373608771
CA8385083
1882 Y>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs754772846
CA8385084
1882 Y>H No ClinGen
ExAC
TOPMed
gnomAD
rs1386598451
CA398103859
1883 K>E No ClinGen
gnomAD
rs780094985
CA8385082
1885 Q>* No ClinGen
ExAC
gnomAD
CA398103792
rs1452680772
1886 A>T No ClinGen
gnomAD
CA8385081
rs758441670
1889 A>T No ClinGen
ExAC
gnomAD
CA8385080
rs749886416
1889 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1324275008 1890 E>= Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
CA398102859
rs1284806392
1891 E>K No ClinGen
gnomAD
rs370658920
CA8385054
1892 Q>* No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs369450938
CA398102801
1892 Q>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA398102814
rs1487586810
1892 Q>R No ClinGen
gnomAD
rs1342885807
CA398102763
1894 N>S No ClinGen
TOPMed
rs376251517
CA8385051
COSM3378063
1895 T>M pancreas [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
rs376251517
CA8385050
1895 T>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1597879832
CA398102717
1896 Q>R No ClinGen
Ensembl
CA8385046
rs771990352
COSM1158905
1901 R>Q pancreas [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs189776455
CA8385047
1901 R>W No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA398102531
rs1567653277
1905 H>Y No ClinGen
Ensembl
rs1480925683
CA398102473
1907 L>I No ClinGen
gnomAD
rs1007359948
CA287731719
1909 E>* No ClinGen
TOPMed
CA8385044
rs572120351
1911 A>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA8385043
rs572120351
1911 A>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs748764993
CA8385042
1911 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA287731661
rs1038428614
1914 A>V No ClinGen
TOPMed
gnomAD
rs374501016
CA287731659
1915 D>N No ClinGen
ESP
TOPMed
rs752339155
CA8385038
1916 I>V No ClinGen
ExAC
gnomAD
CA8385036
rs371179959
1917 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs200996524
CA8385034
1918 E>D No ClinGen
1000Genomes
ExAC
TCGA novel 1918 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs554170134
CA8385035
1918 E>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs763378357
CA398102074
1920 Q>H No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 1920 Q>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8385032
rs750459423
1922 N>H No ClinGen
ExAC
gnomAD
rs376976583
CA8385031
1922 N>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1219671921
CA398102028
1922 N>K No ClinGen
TOPMed
CA287731623
rs903207887
1924 L>M No ClinGen
TOPMed
rs762053114
CA8385030
1924 L>P No ClinGen
ExAC
gnomAD
rs1179087371
CA398101986
1925 R>G No ClinGen
gnomAD
CA398101974
rs1470414088
1925 R>K No ClinGen
gnomAD
CA8385028
rs769019864
1926 A>S No ClinGen
ExAC
gnomAD
rs1471200403
CA398101925
1927 K>* No ClinGen
gnomAD
rs571754464
COSM1380680
CA8385027
1929 R>* Variant assessed as Somatic; 0.0 impact. large_intestine haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs538446950
CA8385025
1929 R>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs538446950
CA8385026
1929 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs777830723
CA8385023
1931 V>M No ClinGen
ExAC
TOPMed
gnomAD
CA287731567
rs975296784
1933 S>N No ClinGen
TOPMed
gnomAD
TCGA novel 1933 S>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8385004
rs369694031
1936 M>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1209522787
CA398101561
1936 M>V No ClinGen
TOPMed
CA8385002
rs747620584
1937 E>A No ClinGen
ExAC
TOPMed
gnomAD
rs769748434
CA8385003
1937 E>K No ClinGen
ExAC
gnomAD
CA398101501
rs1003111759
1938 E>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs1003111759
CA287731016
1938 E>K No ClinGen
TOPMed
gnomAD
CA398101498
rs1003111759
1938 E>Q No ClinGen
TOPMed
gnomAD
CA8385001
rs780689329
1939 E>L No ClinGen
ExAC
TOPMed
gnomAD

No associated diseases with Q9UKX3

8 regional properties for Q9UKX3

Type Name Position InterPro Accession
domain Protein kinase domain 478 - 763 IPR000719
domain S-locus glycoprotein domain 198 - 305 IPR000858
domain Serine-threonine/tyrosine-protein kinase, catalytic domain 480 - 746 IPR001245
domain Bulb-type lectin domain 16 - 166 IPR001480
domain PAN/Apple domain 326 - 408 IPR003609
active_site Serine/threonine-protein kinase, active site 599 - 611 IPR008271
binding_site Protein kinase, ATP binding site 484 - 506 IPR017441
domain S-locus receptor kinase, C-terminal 750 - 792 IPR021820

Functions

Description
EC Number
Subcellular Localization
  • Cytoplasm, myofibril
  • Thick filaments of the myofibrils
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

6 GO annotations of cellular component

Name Definition
cytoplasm The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
extracellular exosome A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm.
muscle myosin complex A filament of myosin found in a muscle cell of any type.
myofibril The contractile element of skeletal and cardiac muscle; a long, highly organized bundle of actin, myosin, and other proteins that contracts by a sliding filament mechanism.
myosin filament A supramolecular fiber containing myosin heavy chains, plus associated light chains and other proteins, in which the myosin heavy chains are arranged into a filament.
myosin II complex A myosin complex containing two class II myosin heavy chains, two myosin essential light chains and two myosin regulatory light chains. Also known as classical myosin or conventional myosin, the myosin II class includes the major muscle myosin of vertebrate and invertebrate muscle, and is characterized by alpha-helical coiled coil tails that self assemble to form a variety of filament structures.

4 GO annotations of molecular function

Name Definition
actin filament binding Binding to an actin filament, also known as F-actin, a helical filamentous polymer of globular G-actin subunits.
ATP binding Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
calmodulin binding Binding to calmodulin, a calcium-binding protein with many roles, both in the calcium-bound and calcium-free states.
microfilament motor activity A motor activity that generates movement along a microfilament, driven by ATP hydrolysis.

2 GO annotations of biological process

Name Definition
cellular response to starvation Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of deprivation of nourishment.
muscle contraction A process in which force is generated within muscle tissue, resulting in a change in muscle geometry. Force generation involves a chemo-mechanical energy conversion step that is carried out by the actin/myosin complex activity, which generates force through ATP hydrolysis.

46 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q9BE40 MYH1 Myosin-1 Bos taurus (Bovine) SS
Q9BE41 MYH2 Myosin-2 Bos taurus (Bovine) SS
Q27991 MYH10 Myosin-10 Bos taurus (Bovine) SS
Q9BE39 MYH7 Myosin-7 Bos taurus (Bovine) SS
P10587 MYH11 Myosin-11 Gallus gallus (Chicken) SS
P14105 MYH9 Myosin-9 Gallus gallus (Chicken) SS
P02565 MYH1B Myosin-1B Gallus gallus (Chicken) SS
P13538 Myosin heavy chain, skeletal muscle, adult Gallus gallus (Chicken) SS
Q99323 zip Myosin heavy chain, non-muscle Drosophila melanogaster (Fruit fly) SS
P05661 Mhc Myosin heavy chain, muscle Drosophila melanogaster (Fruit fly) SS
A7E2Y1 MYH7B Myosin-7B Homo sapiens (Human) SS
P11055 MYH3 Myosin-3 Homo sapiens (Human) SS
P12882 MYH1 Myosin-1 Homo sapiens (Human) SS
P12883 MYH7 Myosin-7 Homo sapiens (Human) EV
P13533 MYH6 Myosin-6 Homo sapiens (Human) SS
P13535 MYH8 Myosin-8 Homo sapiens (Human) SS
Q9Y2K3 MYH15 Myosin-15 Homo sapiens (Human) SS
Q9Y623 MYH4 Myosin-4 Homo sapiens (Human) SS
Q9UKX2 MYH2 Myosin-2 Homo sapiens (Human) SS
P35580 MYH10 Myosin-10 Homo sapiens (Human) SS
P35749 MYH11 Myosin-11 Homo sapiens (Human) SS
P35579 MYH9 Myosin-9 Homo sapiens (Human) SS
Q7Z406 MYH14 Myosin-14 Homo sapiens (Human) SS
Q8VDD5 Myh9 Myosin-9 Mus musculus (Mouse) SS
Q5SX39 Myh4 Myosin-4 Mus musculus (Mouse) SS
P13542 Myh8 Myosin-8 Mus musculus (Mouse) SS
Q02566 Myh6 Myosin-6 Mus musculus (Mouse) SS
O08638 Myh11 Myosin-11 Mus musculus (Mouse) SS
A2AQP0 Myh7b Myosin-7B Mus musculus (Mouse) SS
Q61879 Myh10 Myosin-10 Mus musculus (Mouse) SS
Q91Z83 Myh7 Myosin-7 Mus musculus (Mouse) SS
Q6URW6 Myh14 Myosin-14 Mus musculus (Mouse) SS
P13541 Myh3 Myosin-3 Mus musculus (Mouse) SS
Q5SX40 Myh1 Myosin-1 Mus musculus (Mouse) SS
P79293 MYH7 Myosin-7 Sus scrofa (Pig) SS
Q9TV63 MYH2 Myosin-2 Sus scrofa (Pig) SS
P12847 Myh3 Myosin-3 Rattus norvegicus (Rat) SS
P02563 Myh6 Myosin-6 Rattus norvegicus (Rat) SS
P02564 Myh7 Myosin-7 Rattus norvegicus (Rat) SS
Q62812 Myh9 Myosin-9 Rattus norvegicus (Rat) SS
Q29RW1 Myh4 Myosin-4 Rattus norvegicus (Rat) SS
Q9JLT0 Myh10 Myosin-10 Rattus norvegicus (Rat) SS
P02566 unc-54 Myosin-4 Caenorhabditis elegans SS
P02567 myo-1 Myosin-1 Caenorhabditis elegans SS
P12844 myo-3 Myosin-3 Caenorhabditis elegans SS
P12845 myo-2 Myosin-2 Caenorhabditis elegans SS
10 20 30 40 50 60
MSSDAEMAIF GEAAPYLRKP EKERIEAQNR PFDSKKACFV ADNKEMYVKG MIQTRENDKV
70 80 90 100 110 120
IVKTLDDRML TLNNDQVFPM NPPKFDKIED MAMMTHLHEP AVLYNLKERY AAWMIYTYSG
130 140 150 160 170 180
LFCVTVNPYK WLPVYKPEVV AAYRGKKRQE APPHIFSISD NAYQFMLTDR DNQSILITGE
190 200 210 220 230 240
SGAGKTVNTK RVIQYFATIA VTGDKKKETQ PGKMQGTLED QIIQANPLLE AFGNAKTVRN
250 260 270 280 290 300
DNSSRFGKFI RIHFGATGKL ASADIETYLL EKSRVTFQLS SERSYHIFYQ IMSNKKPELI
310 320 330 340 350 360
DLLLISTNPF DFPFVSQGEV TVASIDDSEE LLATDNAIDI LGFSSEEKVG IYKLTGAVMH
370 380 390 400 410 420
YGNMKFKQKQ REEQAEPDGT EVADKAGYLM GLNSAEMLKG LCCPRVKVGN EYVTKGQNVQ
430 440 450 460 470 480
QVTNSVGALA KAVYEKMFLW MVTRINQQLD TKQPRQYFIG VLDIAGFEIF DFNSLEQLCI
490 500 510 520 530 540
NFTNEKLQQF FNHHMFVLEQ EEYKKEGIEW EFIDFGMDLA ACIELIEKPM GIFSILEEEC
550 560 570 580 590 600
MFPKATDTSF KNKLYDQHLG KSNNFQKPKP AKGKAEAHFS LVHYAGTVDY NIAGWLDKNK
610 620 630 640 650 660
DPLNETVVGL YQKSSLKLLS FLFSNYAGAE TGDSGGSKKG GKKKGSSFQT VSAVFRENLN
670 680 690 700 710 720
KLMTNLRSTH PHFVRCLIPN ETKTPGVMDH YLVMHQLRCN GVLEGIRICR KGFPSRILYA
730 740 750 760 770 780
DFKQRYRILN ASAIPEGQFI DSKNASEKLL NSIDVDREQF RFGNTKVFFK AGLLGLLEEM
790 800 810 820 830 840
RDEKLVTLMT STQAVCRGYL MRVEFKKMME RRDSIFCIQY NIRSFMNVKH WPWMNLFFKI
850 860 870 880 890 900
KPLLKSAEAE KEMATMKEDF ERTKEELARS EARRKELEEK MVSLLQEKND LQLQVQSETE
910 920 930 940 950 960
NLMDAEERCE GLIKSKILLE AKVKELTERL EEEEEMNSEL VAKKRNLEDK CSSLKRDIDD
970 980 990 1000 1010 1020
LELTLTKVEK EKHATENKVK NLSEEMTALE ENISKLTKEK KSLQEAHQQT LDDLQVEEDK
1030 1040 1050 1060 1070 1080
VNGLIKINAK LEQQTDDLEG SLEQEKKLRA DLERAKRKLE GDLKMSQESI MDLENDKQQI
1090 1100 1110 1120 1130 1140
EEKLKKKEFE LSQLQAKIDD EQVHSLQFQK KIKELQARIE ELEEEIEAEH TLRAKIEKQR
1150 1160 1170 1180 1190 1200
SDLARELEEI SERLEEASGA TSAQIEMNKK REAEFQKMRR DLEEATLQHE ATAATLRKKQ
1210 1220 1230 1240 1250 1260
ADSVAELGEQ IDNLQRVKQK LEKEKSELKM EIDDMASNIE ALSKSKSNIE RTCRTVEDQF
1270 1280 1290 1300 1310 1320
SEIKAKDEQQ TQLIHDLNMQ KARLQTQNGE LSHRVEEKES LISQLTKSKQ ALTQQLEELK
1330 1340 1350 1360 1370 1380
RQMEEETKAK NAMAHALQSS RHDCDLLREQ YEEEQEAKAE LQRALSKANS EVAQWRTKYE
1390 1400 1410 1420 1430 1440
TDAIQRTEEL EEAKKKLAQR LQEAEENTET ANSKCASLEK TKQRLQGEVE DLMRDLERSH
1450 1460 1470 1480 1490 1500
TACATLDKKQ RNFDKVLAEW KQKLDESQAE LEAAQKESRS LSTELFKMRN AYEEVVDQLE
1510 1520 1530 1540 1550 1560
TLRRENKNLQ EEISDLTEQI AETGKNLQEA EKTKKLVEQE KSDLQVALEE VEGSLEHEES
1570 1580 1590 1600 1610 1620
KILRVQLELS QVKSELDRKV IEKDEEIEQL KRNSQRAAEA LQSVLDAEIR SRNDALRLKK
1630 1640 1650 1660 1670 1680
KMEGDLNEME IQLGHSNRQM AETQKHLRTV QGQLKDSQLH LDDALRSNED LKEQLAIVER
1690 1700 1710 1720 1730 1740
RNGLLLEELE EMKVALEQTE RTRRLSEQEL LDASDRVQLL HSQNTSLINT KKKLEADIAQ
1750 1760 1770 1780 1790 1800
CQAEVENSIQ ESRNAEEKAK KAITDAAMMA EELKKEQDTS AHLERMKKNL EQTVKDLQHR
1810 1820 1830 1840 1850 1860
LDEAEQLALK GGKKQIQKLE NRVRELENEL DVEQKRGAEA LKGAHKYERK VKEMTYQAEE
1870 1880 1890 1900 1910 1920
DHKNILRLQD LVDKLQAKVK SYKRQAEEAE EQANTQLSRC RRVQHELEEA AERADIAESQ
1930
VNKLRAKSRD VGSQKMEE