Descriptions

The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.

Autoinhibitory domains (AIDs)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

Autoinhibited structure

Activated structure

4 structures for O15438

Entry ID Method Resolution Chain Position Source
8HVH EM 307 A A 1-1527 PDB
8HW2 EM 365 A A 1-1527 PDB
8HW4 EM 352 A A 1-1527 PDB
AF-O15438-F1 Predicted AlphaFoldDB

1376 variants for O15438

Variant ID(s) Position Change Description Diseaes Association Provenance
CA291590694
rs953463596
2 D>N No ClinGen
Ensembl
CA400244221
rs1293320066
5 C>* No ClinGen
gnomAD
rs1441869617
CA400244217
5 C>Y No ClinGen
TOPMed
rs1230805510
CA400244242
6 G>D No ClinGen
TOPMed
CA8653891
rs745529143
6 G>S No ClinGen
ExAC
TOPMed
gnomAD
rs1197849136
CA400244270
8 G>R No ClinGen
TOPMed
gnomAD
rs1271110305
CA400244283
8 G>V No ClinGen
gnomAD
rs1197849136
CA400244277
8 G>W No ClinGen
TOPMed
gnomAD
rs1296680980
CA400244302
9 E>V No ClinGen
TOPMed
CA291590707
rs964320698
10 L>I No ClinGen
TOPMed
CA8653892
VAR_029119
rs11568609
11 G>D No ClinGen
UniProt
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
rs1278424829
CA400244328
11 G>R No ClinGen
gnomAD
CA400244370
rs1188774167
12 S>F No ClinGen
gnomAD
CA8653893
rs201886646
CA400244386
13 K>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs746963392
CA8653894
CA400244424
15 W>C No ClinGen
ExAC
gnomAD
CA291590739
rs867496964
15 W>L No ClinGen
Ensembl
CA291602730
rs149367152
18 N>S No ClinGen
ESP
TOPMed
gnomAD
CA400250799
rs1302846619
20 S>F No ClinGen
Ensembl
rs147484871
CA8653937
21 V>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs147484871
CA8653938
21 V>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs908336862
CA291602735
21 V>M No ClinGen
Ensembl
CA8653939
rs746023660
23 T>R No ClinGen
ExAC
TOPMed
gnomAD
rs775874639
CA8653941
26 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs1205055267
CA400250872
26 P>T No ClinGen
TOPMed
rs763434974
CA291602775
27 D>G No ClinGen
gnomAD
CA8653943
rs769243628
27 D>N No ClinGen
ExAC
gnomAD
CA8653945
rs762606673
28 L>F No ClinGen
ExAC
gnomAD
CA8653946
rs765978466
29 T>N No ClinGen
ExAC
TOPMed
gnomAD
rs759174103
CA8653948
30 P>L No ClinGen
ExAC
gnomAD
rs751264707
CA8653947
30 P>T No ClinGen
ExAC
gnomAD
CA400250944
rs1330041743
31 C>Y No ClinGen
gnomAD
CA8653949
rs767240602
34 N>D No ClinGen
ExAC
gnomAD
rs866383362
CA291602788
34 N>S No ClinGen
Ensembl
CA400251000
rs866383362
34 N>T No ClinGen
Ensembl
rs1280738354
CA400251020
35 S>F No ClinGen
gnomAD
rs1348586251
CA400251024
36 L>V No ClinGen
gnomAD
CA400251098
rs1336670434
41 P>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1313866090
CA400251107
42 C>G No ClinGen
TOPMed
TCGA novel 42 C>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1208331778
CA400251117
43 I>T No ClinGen
gnomAD
rs755835594
CA8653952
44 Y>D No ClinGen
ExAC
gnomAD
CA400251177
rs1206754143
47 V>F No ClinGen
gnomAD
CA8653956
rs757334041
48 A>S No ClinGen
ExAC
TOPMed
gnomAD
rs757334041
CA8653955
48 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA400251220
rs1471995922
50 P>S No ClinGen
TOPMed
gnomAD
CA8653959
rs780105010
51 C>Y No ClinGen
ExAC
gnomAD
CA8653960
rs371251448
54 L>I No ClinGen
ESP
ExAC
gnomAD
CA400251296
rs1597846099
55 Y>S No ClinGen
Ensembl
rs768886195
CA8653961
56 L>M No ClinGen
ExAC
TOPMed
gnomAD
CA8653962
rs768886195
56 L>V No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 57 R>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8653965
rs553304862
57 R>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs200070901
CA8653963
57 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs759146021
CA8653966
58 H>R No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 59 H>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs745495349
CA291602863
59 H>R No ClinGen
TOPMed
gnomAD
CA8653967
rs767241920
60 C>Y No ClinGen
ExAC
gnomAD
rs774985556
CA8653968
61 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs760576754
CA8653969
61 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA8653970
rs760576754
61 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA8653971
rs753786386
62 G>D Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA8653972
rs757136597
63 Y>* No ClinGen
ExAC
gnomAD
rs1480253648
CA400251481
65 I>S No ClinGen
TOPMed
CA8653975
rs758383044
68 H>Q No ClinGen
ExAC
gnomAD
rs34926034
RCV000954511
CA8653974
68 H>Y No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA400251547
rs1187322101
69 L>P No ClinGen
TOPMed
gnomAD
rs148804178
CA8653976
69 L>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA400251564
rs1320364272
70 S>C No ClinGen
TOPMed
CA291602911
rs947261958
70 S>P No ClinGen
TOPMed
CA400251589
rs370960744
71 K>N No ClinGen
gnomAD
rs747189052
CA8653977
72 L>V No ClinGen
ExAC
TOPMed
gnomAD
rs1049695167
CA291602924
73 K>R No ClinGen
TOPMed
CA8653978
CA400251645
rs755394565
74 M>I No ClinGen
ExAC
gnomAD
rs1170079118
CA400251631
74 M>K No ClinGen
TOPMed
gnomAD
CA400251634
rs1170079118
74 M>T No ClinGen
TOPMed
gnomAD
rs142468792
CA8654003
77 G>D No ClinGen
ESP
ExAC
gnomAD
rs142468792
CA8654002
77 G>V No ClinGen
ESP
ExAC
gnomAD
rs776243043
CA8654005
78 V>A No ClinGen
ExAC
gnomAD
CA8654004
rs768335194
78 V>I No ClinGen
ExAC
gnomAD
CA400251886
rs1353411440
80 L>M No ClinGen
gnomAD
rs773202101
CA8654008
83 V>A No ClinGen
ExAC
gnomAD
CA8654007
rs769569355
83 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA8654009
rs762737220
85 W>R No ClinGen
ExAC
gnomAD
CA8654013
rs151133677
86 A>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs375256776
CA8654010
86 A>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8654011
rs375256776
86 A>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs375256776
CA400251954
86 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs151133677
CA8654012
86 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs756614184
CA8654015
87 D>E No ClinGen
ExAC
gnomAD
rs777933376
CA8654016
90 Y>H No ClinGen
ExAC
TOPMed
gnomAD
rs754390880
CA8654017
91 S>Y No ClinGen
ExAC
gnomAD
CA8654019
rs757664905
93 H>R No ClinGen
ExAC
TOPMed
gnomAD
rs1408964042
CA400252078
95 L>M No ClinGen
TOPMed
CA8654021
rs746570040
96 V>A No ClinGen
ExAC
TOPMed
gnomAD
CA400252092
rs1386308464
96 V>L No ClinGen
gnomAD
CA8654022
rs768138706
97 H>R No ClinGen
ExAC
gnomAD
rs201309163
CA8654024
99 R>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8654026
rs35777968
99 R>P No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA8654025
RCV000947839
rs35777968
99 R>Q No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA8654023
rs201309163
99 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs868620611
CA291603506
100 A>D No ClinGen
Ensembl
rs762984202
CA8654027
100 A>S No ClinGen
ExAC
gnomAD
rs922105178
CA291603509
101 P>S No ClinGen
gnomAD
CA400252167
rs371734426
102 A>D No ClinGen
ESP
ExAC
TOPMed
CA400252165
rs371734426
102 A>G No ClinGen
ESP
ExAC
TOPMed
CA8654029
rs144017154
102 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8654031
rs371734426
102 A>V No ClinGen
ESP
ExAC
TOPMed
CA291603530
rs199587942
103 P>S No ClinGen
Ensembl
rs776132587
CA291603531
104 V>L No ClinGen
Ensembl
rs1376253969
CA400252225
107 V>F No ClinGen
gnomAD
CA291603535
rs933386161
107 V>G No ClinGen
Ensembl
CA291603539
rs1051802491
108 T>A No ClinGen
TOPMed
gnomAD
CA8654034
rs767703258
108 T>I No ClinGen
ExAC
gnomAD
TCGA novel 109 P>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8654035
rs752973291
111 V>L No ClinGen
ExAC
gnomAD
CA400252296
rs1567828598
112 V>G No ClinGen
Ensembl
rs760922676
CA8654038
113 G>R No ClinGen
ExAC
gnomAD
CA8654037
rs760922676
113 G>W No ClinGen
ExAC
gnomAD
rs1475394607
CA400252306
114 V>F No ClinGen
gnomAD
CA8654039
rs754195007
115 T>N No ClinGen
ExAC
gnomAD
rs1268318859
CA400252344
116 M>I No ClinGen
Ensembl
rs1274468152
CA400252338
116 M>T No ClinGen
TOPMed
TCGA novel 117 L>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8654064
rs755630531
119 A>T No ClinGen
ExAC
gnomAD
rs566927827
CA8654065
119 A>V No ClinGen
1000Genomes
ExAC
gnomAD
CA400252437
rs1597847185
120 T>P No ClinGen
Ensembl
CA400252457
rs1597847193
121 L>P No ClinGen
Ensembl
CA8654068
rs757009285
121 L>V No ClinGen
ExAC
gnomAD
CA400252478
rs1456200223
123 I>T No ClinGen
TOPMed
rs980511542
CA291603802
123 I>V No ClinGen
TOPMed
gnomAD
rs1174568211
CA400252485
124 Q>* No ClinGen
gnomAD
rs772176022
CA8654071
127 R>P No ClinGen
ExAC
gnomAD
CA8654072
rs772176022
127 R>Q No ClinGen
ExAC
gnomAD
CA8654070
rs745823884
127 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA8654074
rs768775552
130 G>D No ClinGen
ExAC
TOPMed
gnomAD
rs1366925245
CA400252562
130 G>S No ClinGen
TOPMed
gnomAD
rs1597847238
CA400252585
131 V>G No ClinGen
Ensembl
CA8654077
rs765604237
131 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA8654078
rs201830141
132 Q>* No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 132 Q>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8654079
rs763277467
132 Q>R No ClinGen
ExAC
rs752095627
CA8654081
133 S>F No ClinGen
ExAC
gnomAD
CA8654080
rs766924418
133 S>P No ClinGen
ExAC
gnomAD
CA8654082
rs755649633
134 S>L No ClinGen
ExAC
TOPMed
gnomAD
rs753448175
CA8654084
135 G>E No ClinGen
ExAC
gnomAD
rs1597847272
CA400252631
136 V>G No ClinGen
Ensembl
rs1439902734
CA400252627
136 V>I No ClinGen
gnomAD
rs1479030549
CA400252636
137 L>P No ClinGen
TOPMed
gnomAD
rs778676586
CA8654086
138 I>V No ClinGen
ExAC
CA400252664
rs1209945932
141 W>* No ClinGen
TOPMed
CA400252661
rs1425107622
141 W>G No ClinGen
gnomAD
CA400252663
rs745705296
141 W>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA8654087
rs745705296
141 W>S No ClinGen
ExAC
gnomAD
CA400252668
rs1171592294
142 F>L No ClinGen
gnomAD
rs1567828794
CA400252678
RCV000714774
143 L>P No ClinGen
ClinVar
Ensembl
dbSNP
CA8654089
rs34924566
145 V>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA8654088
rs758254910
145 V>M No ClinGen
ExAC
gnomAD
CA400252696
rs1319439606
146 V>A No ClinGen
gnomAD
rs748346809
CA400252709
148 A>G No ClinGen
ExAC
TOPMed
gnomAD
rs781282162
CA8654092
148 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
CA8654093
rs748346809
148 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA400252720
rs1290040324
150 V>A No ClinGen
gnomAD
rs770045921
CA8654094
150 V>I No ClinGen
ExAC
gnomAD
CA8654095
rs578228776
153 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs140992360
CA8654096
153 R>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA400252761
rs1453491308
157 L>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1246144041
CA400252783
160 K>T No ClinGen
gnomAD
CA400252790
rs1456475635
161 A>T No ClinGen
TOPMed
CA400252798
rs1386390050
162 E>G No ClinGen
TOPMed
rs562961331
CA8654120
163 G>A No ClinGen
1000Genomes
ExAC
gnomAD
CA400253089
rs1390681572
163 G>R No ClinGen
gnomAD
CA8654121
rs562961331
163 G>V No ClinGen
1000Genomes
ExAC
gnomAD
rs1221531223
CA400253105
164 E>A No ClinGen
TOPMed
CA400253138
rs750111001
166 S>* No ClinGen
ExAC
TOPMed
gnomAD
CA8654122
rs750111001
166 S>L No ClinGen
ExAC
TOPMed
gnomAD
CA400253149
rs1597847790
167 D>A No ClinGen
Ensembl
CA8654123
rs762641547
170 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs200670648
CA8654125
170 R>H No ClinGen
TOPMed
gnomAD
CA8654124
rs762641547
170 R>S No ClinGen
ExAC
TOPMed
gnomAD
CA400253203
rs1388719342
171 F>L No ClinGen
TOPMed
rs1283796897
CA400253210
171 F>S No ClinGen
gnomAD
CA291606576
rs144810298
172 T>P No ClinGen
ESP
CA291606577
rs922614527
173 T>N No ClinGen
TOPMed
CA400253280
rs1220727416
176 I>S No ClinGen
gnomAD
rs1272488727
CA400253313
178 F>L No ClinGen
gnomAD
rs1292755800
CA400253317
179 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs751408486
CA8654127
180 L>R No ClinGen
ExAC
gnomAD
rs201443043
CA291606581
180 L>V No ClinGen
gnomAD
rs202041010
CA291606584
182 L>F No ClinGen
ExAC
gnomAD
rs1185021292
CA400253357
182 L>P No ClinGen
gnomAD
rs202041010
CA8654129
182 L>V No ClinGen
ExAC
gnomAD
CA400253382
rs531842152
184 A>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs531842152
CA8654130
184 A>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 186 I>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1387723781
CA400253421
188 A>T No ClinGen
gnomAD
CA400253470
rs1461480690
191 R>K No ClinGen
gnomAD
CA400253463
rs1159732329
191 R>W No ClinGen
TOPMed
rs749534386
CA8654133
194 P>R No ClinGen
ExAC
CA8654132
rs777774507
194 P>S No ClinGen
ExAC
gnomAD
CA400253562
rs1456315494
197 F>L No ClinGen
TOPMed
rs375273144
CA8654136
199 A>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs375273144
CA8654135
199 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs772318176
CA8654137
202 V>I No ClinGen
ExAC
gnomAD
CA400253648
rs1295565392
203 D>E No ClinGen
TOPMed
gnomAD
rs376037553
CA8654139
COSM3795797
COSM3795796
203 D>N Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
gnomAD
rs775225857
CA8654164
205 N>K No ClinGen
ExAC
TOPMed
gnomAD
CA400253733
rs1597848102
205 N>T No ClinGen
Ensembl
rs760433093
CA8654165
207 Y>N No ClinGen
ExAC
gnomAD
CA400253761
rs1597848130
207 Y>S No ClinGen
Ensembl
CA8654166
rs764069245
208 P>S No ClinGen
ExAC
gnomAD
rs1458541706
CA400253794
210 T>P No ClinGen
TOPMed
gnomAD
CA8654167
rs753769868
210 T>S No ClinGen
ExAC
gnomAD
rs145577303
CA8654170
212 A>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs145577303
CA8654169
212 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8654171
rs758505565
213 G>S No ClinGen
ExAC
gnomAD
COSM1563769
CA8654172
rs780387687
COSM1563770
217 R>C large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs752016818
CA8654174
217 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs752016818
CA8654173
217 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs781782461
CA8654175
218 L>V No ClinGen
ExAC
gnomAD
rs1245056326
CA400253951
221 W>* No ClinGen
gnomAD
rs1567829338
CA400253987
223 F>Y No ClinGen
Ensembl
CA8654178
rs565265611
224 T>R No ClinGen
ExAC
gnomAD
rs1356598216
CA400254010
225 K>E No ClinGen
gnomAD
rs1469029275
CA400254146
226 M>I No ClinGen
gnomAD
rs764568095
CA8654217
226 M>L No ClinGen
ExAC
gnomAD
rs1296126722
CA400254143
226 M>T No ClinGen
TOPMed
CA8654216
rs764568095
226 M>V No ClinGen
ExAC
gnomAD
rs1425562814
CA400254154
227 A>G No ClinGen
gnomAD
CA400254166
rs1597848697
229 Y>C No ClinGen
Ensembl
rs757915424
CA8654218
230 G>A No ClinGen
ExAC
gnomAD
rs779490464
CA8654219
231 Y>* No ClinGen
ExAC
gnomAD
rs148287642
CA8654221
232 R>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8654222
rs148287642
232 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs143608762
CA8654220
232 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs747948223
CA291606954
234 P>A No ClinGen
ExAC
gnomAD
rs747948223
CA8654223
234 P>S No ClinGen
ExAC
gnomAD
CA8654225
rs769623999
236 E>* No ClinGen
ExAC
gnomAD
rs371378724
CA291606959
237 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
rs751858011 237 E>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8654227
rs749183562
239 D>Y No ClinGen
ExAC
gnomAD
CA400254232
rs1434921844
240 L>F No ClinGen
TOPMed
CA400254242
rs1270270533
241 W>* No ClinGen
gnomAD
rs1300760568
CA400254240
241 W>L No ClinGen
Ensembl
CA291606965
rs755311520
243 L>P No ClinGen
Ensembl
rs774536672
CA8654229
248 R>G No ClinGen
ExAC
gnomAD
rs1329245843
CA400254290
248 R>I No ClinGen
TOPMed
rs1329245843
CA400254288
248 R>K No ClinGen
TOPMed
rs759656958
CA8654230
249 S>P No ClinGen
ExAC
TOPMed
gnomAD
rs1197886349
CA400254305
250 Q>H No ClinGen
gnomAD
TCGA novel 251 M>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1429073455
CA400254310
251 M>T No ClinGen
gnomAD
CA8654231
rs767682032
253 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs1567829730
CA400254332
254 Q>H No ClinGen
Ensembl
CA8654233
rs761014245
255 Q>L No ClinGen
ExAC
gnomAD
rs764459191
CA8654234
256 L>P No ClinGen
ExAC
gnomAD
CA8654237
rs58534606
258 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs565723806
CA8654238
259 A>T No ClinGen
1000Genomes
ExAC
gnomAD
rs754467996
CA8654239
259 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA400254368
rs1289908544
260 W>C No ClinGen
TOPMed
gnomAD
rs1348823428
CA400254374
261 R>M No ClinGen
gnomAD
rs1208474067
CA400254381
262 K>R No ClinGen
TOPMed
rs534717187
CA8654241
265 K>Q No ClinGen
1000Genomes
ExAC
gnomAD
TCGA novel 265 K>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8654242
rs755878262
267 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
rs771035907
CA400254427
269 R>* No ClinGen
ExAC
TOPMed
gnomAD
CA8654245
rs771035907
269 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs774409596
CA8654246
269 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1237729954
CA400254795
270 H>Q No ClinGen
TOPMed
gnomAD
CA400254798
rs1446007533
271 K>E No ClinGen
gnomAD
CA291607432
rs368174277
272 A>S No ClinGen
ESP
CA400254814
rs368174277
272 A>T No ClinGen
ESP
CA400254834
rs1181226644
273 S>* No ClinGen
gnomAD
TCGA novel 274 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA400254864
rs1384058021
276 P>A No ClinGen
gnomAD
rs1450079323
CA400254891
278 K>* No ClinGen
gnomAD
CA400254889
rs1450079323
278 K>E No ClinGen
gnomAD
TCGA novel 279 N>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8654262
rs753736110
282 G>S No ClinGen
ExAC
TOPMed
gnomAD
CA8654266
rs772064905
285 E>G No ClinGen
ExAC
gnomAD
rs143968667
CA8654265
285 E>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA291607452
rs1031159451
286 V>M No ClinGen
TOPMed
rs1268960178
CA400255057
290 A>D No ClinGen
TOPMed
gnomAD
rs951518192
CA291607460
290 A>T No ClinGen
gnomAD
rs1268960178
CA400255055
290 A>V No ClinGen
TOPMed
gnomAD
CA8654270
rs768971754
291 R>P No ClinGen
ExAC
gnomAD
CA8654269
rs768971754
291 R>Q No ClinGen
ExAC
gnomAD
rs201562834
CA8654268
291 R>W No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA400255074
rs1462424964
292 P>H No ClinGen
gnomAD
CA8654271
rs762228255
293 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs1597849674
CA400255085
293 R>T No ClinGen
Ensembl
CA400255090
rs1242034050
294 P>T No ClinGen
gnomAD
CA400255100
rs770073679
295 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA400255104
rs1194635875
295 R>Q No ClinGen
gnomAD
rs770073679
CA8654272
295 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs1371298810
CA400255110
296 K>E No ClinGen
gnomAD
rs1173003953
CA400255117
297 P>A No ClinGen
gnomAD
rs1023011159
CA291607480
297 P>L No ClinGen
TOPMed
gnomAD
rs1341747464
CA400255125
298 S>F No ClinGen
TOPMed
gnomAD
CA8654273
rs773720262
298 S>P No ClinGen
ExAC
TOPMed
gnomAD
CA400255132
rs1452654654
299 F>L No ClinGen
gnomAD
rs1384023538
CA400255151
302 A>G No ClinGen
TOPMed
gnomAD
rs1475448208
CA400255165
305 A>D No ClinGen
TOPMed
rs763471654
CA8654274
305 A>S No ClinGen
ExAC
gnomAD
rs1475448208
CA400255167
305 A>V No ClinGen
TOPMed
rs1597849721
CA400255168
306 T>P No ClinGen
Ensembl
CA8654279
rs372683132
308 G>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs372683132
CA8654278
308 G>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA400255189
rs757124918
309 S>C No ClinGen
ExAC
TOPMed
gnomAD
CA291607495
rs757124918
309 S>F No ClinGen
ExAC
TOPMed
gnomAD
CA8654280
rs757124918
309 S>Y No ClinGen
ExAC
TOPMed
gnomAD
rs778795228
CA8654281
310 S>C No ClinGen
ExAC
gnomAD
rs1597849735
CA400255193
310 S>N No ClinGen
Ensembl
CA400255207
rs1465037307
312 L>F No ClinGen
gnomAD
CA8654282
rs750415588
313 I>M No ClinGen
ExAC
gnomAD
CA400255215
rs1206392578
313 I>T No ClinGen
gnomAD
CA8654283
rs45617731
314 S>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA291607503
rs45617731
314 S>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA8654284
rs779829965
315 A>V No ClinGen
ExAC
gnomAD
rs577146059
CA8654285
318 K>N No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1270840888
CA400255248
318 K>R No ClinGen
gnomAD
rs768614321
CA8654286
319 L>F No ClinGen
ExAC
gnomAD
rs1277109132
CA400255262
320 I>M No ClinGen
TOPMed
TCGA novel 321 Q>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8654289
rs770169344
325 S>F No ClinGen
ExAC
TOPMed
gnomAD
CA8654291
rs200779271
327 I>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs773528140
CA8654290
327 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA400255312
rs771517700
328 N>I No ClinGen
ExAC
gnomAD
CA8654292
rs771517700
328 N>S No ClinGen
ExAC
gnomAD
CA291607515
rs749942780
329 P>S No ClinGen
Ensembl
rs774711794
CA8654293
330 Q>E No ClinGen
ExAC
TOPMed
gnomAD
CA400255527
rs1224975044
334 I>V No ClinGen
gnomAD
CA400255573
rs1250494293
337 R>S No ClinGen
gnomAD
rs1249927411
CA400255600
339 I>T No ClinGen
TOPMed
rs1026930610
CA291608560
342 P>S No ClinGen
Ensembl
rs767412758
CA8654322
343 M>V No ClinGen
ExAC
TOPMed
gnomAD
rs369052934
CA8654323
345 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs756174056
CA8654324
346 S>A No ClinGen
ExAC
gnomAD
CA8654326
rs11568605
346 S>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
VAR_020235
CA8654325
rs11568605
346 S>F No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs148400455
CA8654328
349 G>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1307952658
CA400255791
350 F>S No ClinGen
TOPMed
CA8654329
rs746209818
351 L>Q No ClinGen
ExAC
gnomAD
CA400255801
rs1378575115
351 L>V No ClinGen
TOPMed
gnomAD
rs1597851389
CA400255811
352 V>M No ClinGen
Ensembl
CA400255831
rs763074343
353 A>S No ClinGen
TOPMed
gnomAD
rs763074343
CA400255826
COSM189483
353 A>T large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs146447918
CA8654330
356 M>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA8654331
rs200304810
357 F>L No ClinGen
ExAC
TOPMed
gnomAD
rs558597536
CA8654334
360 S>P No ClinGen
1000Genomes
ExAC
gnomAD
CA400255969
rs1161198942
361 M>R No ClinGen
TOPMed
rs1323963107
CA400255990
362 M>T No ClinGen
gnomAD
CA400256417
rs762463467
364 S>* No ClinGen
ExAC
gnomAD
CA8654335
rs762463467
364 S>L No ClinGen
ExAC
gnomAD
rs1216603053
CA400256428
366 I>T No ClinGen
TOPMed
gnomAD
rs768665751
CA291608596
367 L>* No ClinGen
gnomAD
CA8654339
rs767502496
369 H>Q No ClinGen
ExAC
gnomAD
CA8654338
rs759306578
369 H>R No ClinGen
ExAC
gnomAD
rs752627381
CA8654340
370 Y>C No ClinGen
ExAC
TOPMed
gnomAD
CA291608603
rs760752062
372 H>P No ClinGen
ExAC
gnomAD
CA8654341
rs760752062
372 H>R No ClinGen
ExAC
gnomAD
rs1324853065
CA400256484
374 I>S No ClinGen
gnomAD
rs1468913250
CA400256511
378 G>A No ClinGen
gnomAD
rs151185563
CA8654344
CA400256514
379 V>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8654345
rs569540221
382 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs376917479
CA8654346
382 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs376917479
CA291608609
382 R>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8654347
rs758828229
383 T>A No ClinGen
ExAC
gnomAD
rs1406547841
CA400256596
385 I>M No ClinGen
TOPMed
gnomAD
rs1224533863
CA400256619
386 M>I No ClinGen
gnomAD
rs140303181
CA8654349
386 M>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs140303181
CA8654350
386 M>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1281074823
CA400256603
386 M>V No ClinGen
gnomAD
TCGA novel 388 V>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA400256717
rs1238614667
392 K>N No ClinGen
TOPMed
CA8654367
rs755475860
395 V>A No ClinGen
ExAC
TOPMed
gnomAD
rs755475860
CA400256798
395 V>G No ClinGen
ExAC
TOPMed
gnomAD
CA400256832
rs1234260389
398 N>S No ClinGen
gnomAD
TCGA novel 399 S>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA400256842
rs1169825430
399 S>P No ClinGen
gnomAD
CA400256853
rs1468229546
400 V>I No ClinGen
gnomAD
CA400256885
rs1177525794
402 R>C No ClinGen
TOPMed
gnomAD
rs562997311
CA291608699
402 R>H No ClinGen
1000Genomes
TOPMed
CA8654369
rs781710394
403 A>E No ClinGen
ExAC
gnomAD
rs781710394
CA8654368
403 A>G No ClinGen
ExAC
gnomAD
rs140132843
CA8654371
406 V>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs34346931
CA8654375
408 E>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs746778467
CA8654376
409 I>V No ClinGen
ExAC
gnomAD
rs1385045532
CA400256999
410 V>F No ClinGen
gnomAD
rs768530696
CA8654377
411 N>S No ClinGen
ExAC
TOPMed
gnomAD
CA8654378
rs374399145
412 L>F No ClinGen
ESP
ExAC
gnomAD
CA291608749
rs141526604
413 M>I No ClinGen
ESP
gnomAD
CA400257044
rs1346488015
413 M>R No ClinGen
gnomAD
rs765299998
CA8654380
417 A>V No ClinGen
ExAC
gnomAD
rs1027673139
CA291608763
418 Q>E No ClinGen
Ensembl
TCGA novel 418 Q>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1197580898
CA400257130
419 R>C No ClinGen
TOPMed
gnomAD
CA8654382
rs142924921
419 R>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA400257133
rs142924921
419 R>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs990758396
CA291608766
421 M>T No ClinGen
Ensembl
rs1429035786
CA400257185
423 L>I No ClinGen
TOPMed
rs1462288357
CA400257203
424 A>D No ClinGen
TOPMed
gnomAD
rs1462288357
CA400257207
424 A>V No ClinGen
TOPMed
gnomAD
rs368354847
CA8654388
428 N>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA400257280
rs1465338261
430 L>M No ClinGen
gnomAD
rs1244988151
CA400257304
431 W>* No ClinGen
TOPMed
rs1408522194
CA400257293
431 W>R No ClinGen
gnomAD
CA400257308
rs1204580810
432 S>T No ClinGen
TOPMed
CA8654390
rs745554437
435 L>P No ClinGen
ExAC
TOPMed
gnomAD
CA8654391
rs745554437
435 L>R No ClinGen
ExAC
TOPMed
gnomAD
CA8654392
rs151079073
436 Q>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1597851697
CA400257389
438 I>T No ClinGen
Ensembl
CA400257382
rs1327585394
438 I>V No ClinGen
gnomAD
rs201203647
CA8654394
440 A>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
COSM3672504
rs201203647
CA8654393
COSM3672503
440 A>V prostate [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
rs1339111305
CA400257430
441 I>M No ClinGen
gnomAD
rs748069644
CA8654396
442 Y>* No ClinGen
ExAC
gnomAD
rs1236835901
CA400257447
443 F>I No ClinGen
Ensembl
CA400257641
rs1364071426
448 L>Q No ClinGen
gnomAD
rs1597852151
CA400257638
448 L>V No ClinGen
Ensembl
CA8654423
rs764648381
450 P>L No ClinGen
ExAC
gnomAD
TCGA novel 450 P>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1384769979
CA400257665
450 P>S No ClinGen
gnomAD
rs1384769979
CA400257662
450 P>T No ClinGen
gnomAD
rs1335911096
CA400257681
451 S>C No ClinGen
gnomAD
CA400257701
rs1567832002
453 L>R No ClinGen
Ensembl
CA291609297
rs928652343
456 V>I No ClinGen
Ensembl
rs374279400
CA8654425
457 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs765822884
CA8654426
458 F>V No ClinGen
ExAC
TOPMed
gnomAD
rs1319963880
CA400257770
459 M>T No ClinGen
gnomAD
CA400257765
rs1293730103
459 M>V No ClinGen
gnomAD
rs751200868
CA8654427
460 V>F No ClinGen
ExAC
TOPMed
gnomAD
rs751200868
CA8654428
460 V>I No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 461 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs148338630
CA8654429
463 I>S No ClinGen
ESP
ExAC
gnomAD
rs1597852207
CA400257832
464 P>R No ClinGen
Ensembl
CA8654430
rs752594239
464 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA8654431
rs752594239
464 P>T No ClinGen
ExAC
TOPMed
gnomAD
CA8654435
rs779015256
COSM1324969
COSM1324968
467 G>R ovary [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA400257889
rs1353810125
467 G>V No ClinGen
TOPMed
rs745908923
CA8654436
469 V>G No ClinGen
ExAC
gnomAD
CA291609360
rs946635547
471 V>A No ClinGen
Ensembl
CA291609357
rs892358122
471 V>L No ClinGen
gnomAD
CA400257952
rs892358122
471 V>M No ClinGen
gnomAD
CA8654438
rs775564715
473 M>V No ClinGen
ExAC
gnomAD
rs761029730
CA8654440
474 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs761029730
CA8654439
474 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs200555604
CA8654441
474 R>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA8654443
COSM1384359
COSM1384358
rs543738423
475 A>T Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA8654444
rs751130466
477 Q>P No ClinGen
ExAC
gnomAD
rs1161295311
CA400258606
478 V>L No ClinGen
TOPMed
CA400258661
rs1257704204
481 M>I No ClinGen
TOPMed
gnomAD
CA8654460
rs775180789
486 S>L No ClinGen
ExAC
TOPMed
gnomAD
COSM1384361
COSM1384360
rs577213087
CA8654462
487 R>C Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs773586596
CA400258749
487 R>H Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA8654463
rs773586596
487 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs775305792
CA8654466
488 I>M No ClinGen
ExAC
gnomAD
rs766880630
CA8654465
488 I>T No ClinGen
ExAC
gnomAD
rs141547175
CA8654464
488 I>V No ClinGen
ESP
ExAC
TOPMed
rs894252965
CA291612104
489 K>* No ClinGen
TOPMed
gnomAD
CA400258773
rs1193310479
489 K>R No ClinGen
gnomAD
rs753738186
CA8654469
492 S>R No ClinGen
ExAC
gnomAD
rs1316079870
CA400258838
493 E>G No ClinGen
TOPMed
gnomAD
CA400258845
rs1356904471
494 I>V No ClinGen
gnomAD
CA400258862
rs1363943313
495 L>P No ClinGen
gnomAD
CA8654471
rs763632009
495 L>V No ClinGen
ExAC
TOPMed
gnomAD
CA400258890
rs1239224975
497 G>A No ClinGen
TOPMed
gnomAD
rs758522517
CA291612141
497 G>R No ClinGen
ExAC
TOPMed
gnomAD
CA8654473
rs758522517
497 G>S No ClinGen
ExAC
TOPMed
gnomAD
rs779954762
CA8654474
498 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA291612155
rs200119778
505 A>T No ClinGen
1000Genomes
TCGA novel 507 E>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8654477
rs781377638
513 Q>H No ClinGen
ExAC
gnomAD
rs373375235
CA8654476
513 Q>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8654479
rs769985556
514 V>A No ClinGen
ExAC
gnomAD
CA8654478
rs748579053
514 V>M No ClinGen
ExAC
gnomAD
CA8654481
rs143084758
515 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA400259163
rs1344510651
515 E>V No ClinGen
TOPMed
rs775184285
CA8654483
516 G>D No ClinGen
ExAC
gnomAD
rs145930090
CA8654482
516 G>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA400259207
rs11568601
518 R>W No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA400259220
rs1417780897
519 Q>K No ClinGen
gnomAD
CA400259250
rs1297397783
520 G>V No ClinGen
TOPMed
gnomAD
CA400259284
rs763902431
522 L>F No ClinGen
ExAC
gnomAD
rs763902431
CA8654485
522 L>I No ClinGen
ExAC
gnomAD
rs180746726
CA8654487
526 R>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs764888307
CA400259350
526 R>H Variant assessed as Somatic; 4.645e-05 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs764888307
CA8654488
526 R>L No ClinGen
ExAC
gnomAD
CA8654489
rs1003354
527 T>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA8654490
rs1003354
527 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA291612225
rs1003354
527 T>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1003355
CA291612244
528 A>G No ClinGen
ESP
TOPMed
gnomAD
rs751694753
CA8654492
528 A>T No ClinGen
ExAC
gnomAD
CA291612257
rs1003355
528 A>V No ClinGen
ESP
TOPMed
gnomAD
rs143222962
CA8654493
529 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA400259395
rs1233923765
529 A>V No ClinGen
TOPMed
rs781396307
CA8654494
531 L>F No ClinGen
ExAC
gnomAD
CA400259407
rs377705465
531 L>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8654495
rs377705465
531 L>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs976097306
CA291612275
534 T>I No ClinGen
TOPMed
rs756524566
CA8654497
535 T>I No ClinGen
ExAC
TOPMed
gnomAD
rs756524566
CA291612283
535 T>S No ClinGen
ExAC
TOPMed
gnomAD
CA400259432
rs1157995617
536 T>A No ClinGen
TOPMed
gnomAD
CA400259445
rs1385738017
538 T>P No ClinGen
gnomAD
CA400259459
rs1268350369
539 W>C No ClinGen
TOPMed
CA8654498
rs777961746
540 M>I No ClinGen
ExAC
gnomAD
rs1426319363
CA400259464
540 M>T No ClinGen
gnomAD
CA400259483
rs749635299
542 S>R No ClinGen
ExAC
gnomAD
rs1597853501
CA400259476
542 S>R No ClinGen
Ensembl
CA8654500
rs371269343
543 P>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs371269343
CA8654501
543 P>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA400259683
rs1355979186
546 V>M No ClinGen
TOPMed
VAR_084161
rs144520783
CA8654527
548 L>Q No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA8654528
rs570998080
550 T>I No ClinGen
1000Genomes
ExAC
gnomAD
rs1300584829
CA400260048
551 L>P No ClinGen
gnomAD
rs762659563
CA8654529
551 L>V No ClinGen
ExAC
gnomAD
rs1374828821
CA400260066
552 W>C No ClinGen
TOPMed
CA291612411
rs915550671
554 Y>F No ClinGen
TOPMed
gnomAD
CA8654530
rs770654016
554 Y>H No ClinGen
ExAC
gnomAD
TCGA novel 555 V>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA400260095
rs759429326
555 V>L No ClinGen
ExAC
TOPMed
gnomAD
CA8654532
rs759429326
555 V>M No ClinGen
ExAC
TOPMed
gnomAD
CA400260103
rs1404414080
556 Y>N No ClinGen
gnomAD
rs200008481
CA291612439
557 V>M No ClinGen
TOPMed
gnomAD
COSM3362217
rs1456882132
CA400260143
559 P>T kidney [Cosmic] No ClinGen
cosmic curated
gnomAD
CA8654536
rs764292157
561 N>S No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 564 D>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA400260209
rs1276682869
564 D>V No ClinGen
gnomAD
rs757713402
CA8654538
565 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs200871228
CA8654540
566 E>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA400260222
rs1346536152
566 E>K No ClinGen
gnomAD
CA8654541
rs759020211
568 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs1447456405
CA400260262
569 F>V No ClinGen
gnomAD
rs1020075979
CA291612490
572 V>M No ClinGen
Ensembl
CA400260341
rs1200440432
577 I>V No ClinGen
gnomAD
CA400260351
rs1379544558
578 L>* No ClinGen
gnomAD
CA400260356
rs1318256894
579 R>K No ClinGen
TOPMed
rs747678686
CA8654543
579 R>S No ClinGen
ExAC
gnomAD
CA400260365
rs1567833073
580 L>F No ClinGen
Ensembl
TCGA novel 582 L>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA400260402
rs1172012006
583 N>S No ClinGen
gnomAD
CA291612494
rs547889450
584 M>I No ClinGen
Ensembl
TCGA novel 584 M>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA291612495
rs902916346
585 L>V No ClinGen
Ensembl
CA400260441
rs1296778798
586 P>H No ClinGen
gnomAD
CA8654544
COSM189484
rs755582252
586 P>S large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs1360267105
CA400260474
589 I>N No ClinGen
gnomAD
rs777303738
CA8654545
590 S>R No ClinGen
ExAC
gnomAD
CA291612512
rs758726938
591 N>S No ClinGen
TOPMed
gnomAD
CA400260518
rs1395588267
593 T>A No ClinGen
TOPMed
rs892741146
CA291612517
593 T>I No ClinGen
TOPMed
gnomAD
CA8654574
rs776817609
597 V>G No ClinGen
ExAC
gnomAD
rs768442839
CA8654573
597 V>M No ClinGen
ExAC
TOPMed
COSM106379
CA8654577
rs137911252
601 R>Q skin [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA8654576
rs576176010
COSM1599911
601 R>W Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA8654578
rs199965906
602 I>M No ClinGen
1000Genomes
ExAC
gnomAD
rs372779205
CA8654580
603 Q>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs766716602
CA8654579
603 Q>K No ClinGen
ExAC
gnomAD
rs760129038
CA8654581
605 F>L No ClinGen
ExAC
gnomAD
TCGA novel 606 L>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs11568608
CA8654582
607 S>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA400260743
rs11568608
607 S>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1338511013
CA400260766
609 E>K No ClinGen
gnomAD
CA291612740
rs376969333
612 D>E No ClinGen
ESP
CA291612741
rs926664992
613 P>T No ClinGen
TOPMed
gnomAD
rs756758336
CA8654584
614 Q>K No ClinGen
ExAC
gnomAD
CA8654585
rs533472614
614 Q>R No ClinGen
1000Genomes
ExAC
gnomAD
CA8654586
rs750024226
615 S>R No ClinGen
ExAC
TOPMed
rs779935623
CA8654588
616 V>A No ClinGen
ExAC
gnomAD
CA8654587
rs202201028
616 V>M No ClinGen
1000Genomes
ExAC
gnomAD
rs1176321866
CA400260863
617 E>Q No ClinGen
TOPMed
rs373582948
CA291612757
618 R>G No ClinGen
Ensembl
rs1254638509
CA400260893
619 K>Q No ClinGen
gnomAD
CA400260914
rs1456726182
620 T>I No ClinGen
TOPMed
CA400260911
rs1456726182
620 T>N No ClinGen
TOPMed
rs1214932580
CA400260948
623 P>R No ClinGen
TOPMed
CA400261043
rs1397860351
626 A>T No ClinGen
gnomAD
rs1482380572
CA400261067
627 I>V No ClinGen
TOPMed
CA291612945
rs959691251
628 T>S No ClinGen
Ensembl
rs746250571
CA8654617
629 I>L No ClinGen
ExAC
gnomAD
CA400261111
rs1221068133
629 I>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA8654618
rs772368658
631 S>G No ClinGen
ExAC
gnomAD
rs992229942
CA291612964
631 S>I No ClinGen
TOPMed
gnomAD
rs1241478172
CA400261160
632 G>S No ClinGen
gnomAD
CA8654619
rs776003048
635 T>I No ClinGen
ExAC
gnomAD
CA400261250
rs1487530052
636 W>* No ClinGen
gnomAD
rs761134270
CA400261263
637 A>S No ClinGen
ExAC
gnomAD
CA8654620
rs761134270
637 A>T No ClinGen
ExAC
gnomAD
CA291612968
rs966719223
638 Q>H No ClinGen
Ensembl
CA291612965
rs917896781
638 Q>K No ClinGen
Ensembl
CA400261297
rs1597854200
639 D>A No ClinGen
Ensembl
rs1204984267
CA400261327
642 P>S No ClinGen
TOPMed
CA8654622
rs772762605
643 T>I No ClinGen
ExAC
rs1488595636
CA400261333
643 T>P No ClinGen
TOPMed
gnomAD
rs762361686
CA8654623
645 H>P No ClinGen
ExAC
TOPMed
gnomAD
rs1195248888
CA400261430
648 D>N No ClinGen
TOPMed
rs772460475
CA8654636
651 V>F No ClinGen
ExAC
TOPMed
gnomAD
COSM1181340
CA8654637
rs144530573
652 P>L large_intestine [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
rs769214555
CA8654639
654 G>A No ClinGen
ExAC
TOPMed
gnomAD
CA400261520
rs769214555
654 G>E No ClinGen
ExAC
TOPMed
gnomAD
rs1351036576
CA400261534
655 A>G No ClinGen
TOPMed
rs1226927375
CA400261525
655 A>T No ClinGen
gnomAD
CA400261552
rs1333684851
657 V>L No ClinGen
gnomAD
CA291613095
rs866391335
658 A>V No ClinGen
Ensembl
rs762536067
CA8654641
COSM141510
659 V>M upper_aerodigestive_tract Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs765756800
CA8654642
660 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs1179841818
CA400261611
662 P>T No ClinGen
gnomAD
CA8654643
rs142343463
663 V>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA400261637
rs759301256
664 G>C No ClinGen
ExAC
TOPMed
gnomAD
CA400261642
rs1398179974
664 G>D No ClinGen
gnomAD
CA8654645
rs759301256
664 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs759301256
CA400261634
664 G>S No ClinGen
ExAC
TOPMed
gnomAD
CA400261640
rs1398179974
664 G>V No ClinGen
gnomAD
CA400261654
rs1362108049
665 C>S No ClinGen
gnomAD
rs752597501
CA8654647
667 K>N No ClinGen
ExAC
gnomAD
rs755969555
CA8654648
669 S>F No ClinGen
ExAC
gnomAD
rs757382887
CA8654651
672 S>P No ClinGen
ExAC
gnomAD
CA400261746
rs1218835250
673 A>S No ClinGen
gnomAD
rs978476558
CA291613137
673 A>V No ClinGen
TOPMed
rs1279643729
CA400261753
674 L>P No ClinGen
gnomAD
CA400261762
rs1567833577
COSM981282
676 G>E Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
Ensembl
NCI-TCGA
CA291613140
rs370839895
677 E>K No ClinGen
ESP
TOPMed
CA8654654
rs758673110
679 E>D No ClinGen
ExAC
TOPMed
gnomAD
CA8654653
rs750488954
679 E>Q No ClinGen
ExAC
gnomAD
rs747374991
CA8654656
681 L>I No ClinGen
ExAC
gnomAD
CA291613154
rs781732795
683 G>D No ClinGen
ExAC
TOPMed
gnomAD
rs781732795
CA8654658
683 G>V No ClinGen
ExAC
TOPMed
gnomAD
rs1430236878
CA400261837
685 V>M No ClinGen
TOPMed
CA8654659
rs748573725
686 H>P No ClinGen
ExAC
gnomAD
CA8654660
rs770297091
687 M>T No ClinGen
ExAC
TOPMed
gnomAD
rs771693783
CA8654682
691 V>G No ClinGen
ExAC
gnomAD
rs138840926
CA8654681
691 V>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA400261985
rs1199104559
692 A>S No ClinGen
TOPMed
rs1320125366
CA400262006
693 Y>C No ClinGen
gnomAD
rs1320362406
CA400262025
695 P>T No ClinGen
TOPMed
rs760370500
CA8654684
697 Q>* No ClinGen
ExAC
TOPMed
gnomAD
rs768311563
CA8654685
699 W>R No ClinGen
ExAC
gnomAD
CA291613276
rs112733744
701 Q>R No ClinGen
Ensembl
rs1302593014
CA400262129
702 N>S No ClinGen
gnomAD
CA291613278
rs965286496
706 Q>R No ClinGen
TOPMed
CA400262195
rs1283576523
707 E>G Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs531898935
CA8654687
707 E>K No ClinGen
1000Genomes
ExAC
gnomAD
CA8654688
rs188344711
708 N>K No ClinGen
1000Genomes
ExAC
gnomAD
CA8654689
COSM1640734
rs750350038
709 V>M stomach [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
TCGA novel 711 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs763071887
CA8654692
712 G>S No ClinGen
ExAC
TOPMed
gnomAD
CA400262267
rs1567833686
713 K>Q No ClinGen
Ensembl
rs929554071
CA291613297
715 L>P No ClinGen
TOPMed
CA8654693
rs148975560
715 L>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs11568584
CA8654695
718 K>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8654696
rs767722164
719 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs767722164
CA400262315
719 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA8654698
rs143749403
719 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8654697
rs143749403
719 R>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA400262314
rs767722164
719 R>S No ClinGen
ExAC
TOPMed
gnomAD
rs1458690598
CA400262318
720 Y>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA291613328
rs898188238
720 Y>S No ClinGen
Ensembl
rs931536937
CA291613329
723 T>I No ClinGen
Ensembl
rs778199640
CA8654699
723 T>P No ClinGen
ExAC
gnomAD
rs1055418411
CA291613330
724 L>P No ClinGen
TOPMed
rs749788424
CA8654700
724 L>V No ClinGen
ExAC
gnomAD
rs138429197
CA8654702
725 E>D No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA291613344
rs1013671132
728 A>T No ClinGen
gnomAD
CA8654703
rs746464986
729 L>F No ClinGen
ExAC
gnomAD
CA8654705
rs143021201
736 L>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA291613360
rs200076202
738 G>S No ClinGen
Ensembl
CA8654706
rs747954471
740 D>N No ClinGen
ExAC
TOPMed
gnomAD
CA8654707
rs747954471
740 D>Y No ClinGen
ExAC
TOPMed
gnomAD
CA8654709
rs773176266
743 E>A No ClinGen
ExAC
gnomAD
TCGA novel 743 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs766257330
CA8654711
744 I>M No ClinGen
ExAC
TOPMed
gnomAD
CA8654710
rs762912128
744 I>V No ClinGen
ExAC
gnomAD
TCGA novel 745 G>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA400262479
rs1250386812
746 E>K No ClinGen
gnomAD
rs762198229
CA8654737
748 G>D No ClinGen
ExAC
CA291615680
rs868547349
748 G>S No ClinGen
Ensembl
CA8654738
rs765906864
749 I>L No ClinGen
ExAC
TOPMed
gnomAD
rs1342548916
CA400264129
752 S>P No ClinGen
gnomAD
rs1241617679
CA400264160
753 G>E No ClinGen
gnomAD
rs750923752
CA8654739
753 G>R No ClinGen
ExAC
gnomAD
rs373490478
CA8654741
756 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA8654740
rs754489613
756 R>W No ClinGen
ExAC
gnomAD
CA400264242
rs755779050
758 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA8654743
rs755779050
COSM3819968
758 R>Q breast [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA8654742
rs376756717
758 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1347610432
CA400264253
759 V>D No ClinGen
gnomAD
rs1347610432
CA400264263
759 V>G No ClinGen
gnomAD
CA291615715
rs989703658
760 S>C No ClinGen
TOPMed
rs777341750
CA291615721
760 S>I No ClinGen
ExAC
TOPMed
gnomAD
rs777341750
CA8654744
760 S>N No ClinGen
ExAC
TOPMed
gnomAD
rs749148541
CA8654745
761 L>V No ClinGen
ExAC
gnomAD
CA400264301
rs1184297842
762 A>G No ClinGen
gnomAD
rs1486639793
CA400264298
762 A>S No ClinGen
gnomAD
CA8654746
rs770699096
763 R>* No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 763 R>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1433214320
CA400264315
764 A>T No ClinGen
gnomAD
CA8654747
rs778763729
764 A>V No ClinGen
ExAC
gnomAD
CA8654750
rs34291385
765 V>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs34291385
CA8654749
765 V>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1030146977
CA291615755
767 S>G No ClinGen
TOPMed
CA8654751
rs375780424
767 S>R No ClinGen
ESP
ExAC
gnomAD
CA8654753
rs535710725
769 A>D No ClinGen
1000Genomes
ExAC
gnomAD
CA8654754
rs34696691
770 D>N No ClinGen
ESP
ExAC
gnomAD
rs373386354
CA8654756
771 I>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8654755
rs762320996
771 I>N No ClinGen
ExAC
gnomAD
rs1298327098
CA400264519
774 L>P No ClinGen
TOPMed
CA400264542
rs1227559381
775 D>E No ClinGen
TOPMed
CA400264523
rs1370887901
775 D>N No ClinGen
gnomAD
rs1362873929
CA400264553
776 D>G No ClinGen
TOPMed
rs1213242201
CA400264611
780 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs766740692
CA8654759
780 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA8654761
rs755617796
781 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs1194898644
CA400264661
782 D>G No ClinGen
TOPMed
gnomAD
CA8654764
rs757081537
783 S>F No ClinGen
ExAC
TOPMed
gnomAD
rs141577167
CA8654763
783 S>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs373747748
CA8654767
784 H>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA400264689
rs1198269586
784 H>R No ClinGen
gnomAD
COSM349372
rs1015932184
CA8654765
784 H>Y lung [Cosmic] No ClinGen
cosmic curated
TOPMed
CA400264694
rs1398694533
785 V>M No ClinGen
gnomAD
CA8654769
rs376760018
786 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA400264729
rs1350623568
COSM349373
787 K>N lung [Cosmic] No ClinGen
cosmic curated
gnomAD
rs1034006668
CA291615862
789 I>N No ClinGen
gnomAD
CA8654770
rs779784976
790 F>S No ClinGen
ExAC
TOPMed
gnomAD
CA8654771
rs370579530
791 D>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1394444232
CA400264786
791 D>G No ClinGen
gnomAD
rs762159761
CA8654774
793 V>A No ClinGen
ExAC
gnomAD
rs139106724
CA8654773
793 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1305871584
CA400264818
794 I>V No ClinGen
TOPMed
gnomAD
CA291615950
rs377343451
795 G>E No ClinGen
ESP
TOPMed
CA8654776
rs773640405
795 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs766976446
CA8654778
798 G>V No ClinGen
ExAC
gnomAD
COSM1610471
rs144001322
CA8654781
799 V>L liver [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
rs144001322
CA8654780
799 V>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1176395882
CA400264893
801 A>T No ClinGen
gnomAD
CA8654782
rs753303819
801 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA8654815
rs200429903
804 T>M No ClinGen
ExAC
TOPMed
gnomAD
CA8654816
rs746171655
805 R>* No ClinGen
ExAC
TOPMed
gnomAD
rs746171655
CA400265008
805 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs772570072
CA8654817
806 V>A No ClinGen
ExAC
TOPMed
gnomAD
rs1212920186
COSM1679916
CA400265016
806 V>M large_intestine [Cosmic] No ClinGen
cosmic curated
TOPMed
rs775970205
CA8654818
808 V>M No ClinGen
ExAC
gnomAD
rs34675700
COSM3691691
CA8654819
809 T>M large_intestine [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs766002271
CA8654823
811 G>D No ClinGen
ExAC
TOPMed
gnomAD
CA8654822
rs138307902
811 G>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA400265103
rs1430113952
814 F>V No ClinGen
TOPMed
rs554045968
CA8654826
819 D>E No ClinGen
ExAC
TOPMed
gnomAD
CA400265214
rs1166607831
822 I>T No ClinGen
TOPMed
TCGA novel 822 I>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs767621528
CA8654828
823 V>M No ClinGen
ExAC
gnomAD
CA8654829
rs752660566
824 L>P No ClinGen
ExAC
gnomAD
rs201948613
CA291616493
827 G>E No ClinGen
gnomAD
rs1275388616
CA400265264
827 G>R No ClinGen
gnomAD
rs777746452
CA8654831
828 Q>H No ClinGen
ExAC
gnomAD
CA400265278
rs1231856673
828 Q>L No ClinGen
TOPMed
gnomAD
rs753903498
CA8654832
829 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs753903498
CA400265285
829 V>M No ClinGen
ExAC
TOPMed
gnomAD
CA8654834
rs779037082
830 S>T No ClinGen
ExAC
gnomAD
rs1199648966
CA400265330
833 G>V No ClinGen
gnomAD
rs1255491352
CA400265333
834 P>A No ClinGen
TOPMed
gnomAD
CA8654837
rs369718940
COSM1243981
834 P>L Variant assessed as Somatic; 0.0 impact. oesophagus [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
gnomAD
rs1255491352
CA400265334
834 P>S No ClinGen
TOPMed
gnomAD
CA400265351
rs1159971993
837 A>T No ClinGen
gnomAD
TCGA novel 838 L>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA291616522
rs975586555
839 L>M No ClinGen
Ensembl
CA400265364
rs1399663095
839 L>P No ClinGen
gnomAD
rs200941858
CA8654843
841 R>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs770775971
CA8654844
841 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA400265388
rs1336129052
843 G>D No ClinGen
gnomAD
CA8654846
rs759454160
843 G>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs373431767
CA8654847
845 F>C No ClinGen
ESP
ExAC
gnomAD
rs1278056912
CA400265407
846 A>V No ClinGen
gnomAD
CA400265410
rs1597856479
847 N>H No ClinGen
Ensembl
CA400265416
rs1597856488
847 N>K No ClinGen
Ensembl
rs1567835219
CA400265415
847 N>S No ClinGen
Ensembl
rs868489247
CA291616547
848 F>Y No ClinGen
Ensembl
CA400265443
rs1350194239
851 N>S No ClinGen
gnomAD
rs755617550
CA291616552
852 Y>C No ClinGen
TOPMed
gnomAD
CA8654848
rs200413276
853 A>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1213623313
CA400265463
854 P>R No ClinGen
gnomAD
CA400265461
rs1467149156
854 P>S No ClinGen
gnomAD
CA8654851
rs753866926
855 D>N No ClinGen
ExAC
TOPMed
gnomAD
CA400265482
rs1361744148
857 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs779162111
CA8654853
859 G>R No ClinGen
ExAC
TCGA novel 859 G>W Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1037618676
CA291616564
862 E>Q No ClinGen
Ensembl
CA8654854
rs750617359
863 D>Y No ClinGen
ExAC
gnomAD
CA291616567
rs1018761611
864 S>R No ClinGen
TOPMed
gnomAD
CA400265533
rs1411709732
864 S>T No ClinGen
TOPMed
rs758799663
CA8654855
865 W>C No ClinGen
ExAC
gnomAD
rs747342723
CA8654857
867 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA8654866
rs760451698
867 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs373307851
CA8654868
870 G>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8654869
rs761927231
871 A>T No ClinGen
ExAC
gnomAD
rs1225894969
CA400266414
872 E>* No ClinGen
gnomAD
rs750456363
CA8654871
872 E>A No ClinGen
ExAC
gnomAD
rs750456363
CA400266417
872 E>V No ClinGen
ExAC
gnomAD
CA400266424
rs1219937528
873 D>V No ClinGen
gnomAD
rs758636064
CA8654872
873 D>Y No ClinGen
ExAC
gnomAD
CA400266442
rs1424827778
875 E>Q No ClinGen
TOPMed
rs766561182
CA8654873
876 A>T No ClinGen
ExAC
gnomAD
rs190850373
CA8654876
879 I>F No ClinGen
1000Genomes
ExAC
gnomAD
CA291619537
rs942407959
879 I>M No ClinGen
TOPMed
gnomAD
CA8654877
rs147862569
881 D>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs971018001
CA291619554
883 L>F No ClinGen
TOPMed
rs971018001
CA400266556
883 L>V No ClinGen
TOPMed
CA8654878
rs756650872
885 N>S No ClinGen
ExAC
TOPMed
gnomAD
CA400266603
rs1318810089
886 H>D No ClinGen
TOPMed
CA8654881
rs35892518
887 T>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs775202118
CA8654885
891 D>E No ClinGen
ExAC
gnomAD
CA400266675
rs1364174330
891 D>G No ClinGen
gnomAD
CA291619585
rs377587600
892 N>S No ClinGen
ESP
TOPMed
CA400266708
rs1295523271
893 D>Y No ClinGen
gnomAD
rs1372330448
CA400266720
894 P>T No ClinGen
gnomAD
rs1338197166
CA400266747
895 V>A No ClinGen
TOPMed
CA400266741
rs1278620731
895 V>F No ClinGen
gnomAD
rs1170775282
CA400266783
897 Y>* No ClinGen
TOPMed
gnomAD
rs1004898794
CA291619590
897 Y>C No ClinGen
TOPMed
gnomAD
TCGA novel 900 Q>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1486575719
CA400266846
901 K>R No ClinGen
gnomAD
CA400266844
rs1486575719
901 K>T No ClinGen
gnomAD
rs768471141
CA8654887
902 Q>E No ClinGen
ExAC
gnomAD
CA8654888
rs776471472
902 Q>R No ClinGen
ExAC
gnomAD
rs142337287
CA8654891
904 M>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA8654890
rs765104874
904 M>T No ClinGen
ExAC
gnomAD
rs761767586
CA8654889
904 M>V No ClinGen
ExAC
gnomAD
rs142288129
CA8654892
905 R>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA400266994
rs1234533476
906 Q>* No ClinGen
gnomAD
rs1352357236
CA400267022
907 L>V No ClinGen
TOPMed
CA291619672
rs922331962
908 S>C No ClinGen
TOPMed
rs1322026804
CA400267051
909 A>T No ClinGen
gnomAD
CA291619677
rs745939718
COSM1710480
909 A>V skin [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
rs563258849
CA291619680
910 L>M No ClinGen
1000Genomes
gnomAD
rs1181771194
CA400267075
910 L>P No ClinGen
gnomAD
CA291619684
rs563258849
910 L>V No ClinGen
1000Genomes
gnomAD
rs1476257444
CA400267090
911 S>F No ClinGen
gnomAD
CA291619707
rs556776765
912 S>P No ClinGen
Ensembl
CA291619708
rs866031652
915 E>G No ClinGen
Ensembl
CA8654916
rs774257178
916 G>E No ClinGen
ExAC
TOPMed
gnomAD
CA400267149
rs1413789551
916 G>R No ClinGen
gnomAD
CA400267160
rs1173092566
917 Q>* No ClinGen
gnomAD
rs759827958
CA8654917
917 Q>H No ClinGen
ExAC
gnomAD
rs767575877
CA8654918
918 G>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA400267174
rs1307048456
918 G>D No ClinGen
TOPMed
gnomAD
CA400267173
rs767575877
918 G>R No ClinGen
ExAC
gnomAD
rs1307048456
CA400267177
918 G>V No ClinGen
TOPMed
gnomAD
rs1012299385
CA291619730
919 R>Q No ClinGen
TOPMed
gnomAD
rs753114408
CA8654919
919 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs764755029
CA8654921
920 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs35999272
CA8654920
920 P>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA291619742
rs1003840355
921 V>I No ClinGen
Ensembl
rs757883341
CA8654924
922 P>S No ClinGen
ExAC
gnomAD
RCV000973749
rs34502058
CA8654925
923 R>Q No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs371874263
CA291619746
923 R>W No ClinGen
ESP
TOPMed
gnomAD
CA400267228
rs750981656
925 H>P No ClinGen
ExAC
TOPMed
gnomAD
CA8654926
rs750981656
925 H>R No ClinGen
ExAC
TOPMed
gnomAD
rs754666400
CA8654927
927 G>D No ClinGen
ExAC
TOPMed
gnomAD
CA400267243
rs1486774452
927 G>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA291619761
rs899196420
928 P>S No ClinGen
TOPMed
rs1188831806
CA400267268
929 S>L No ClinGen
gnomAD
rs138376401
CA8654928
930 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA400267295
rs1283314398
931 K>N No ClinGen
TOPMed
rs1597858032
CA400267296
932 V>M No ClinGen
Ensembl
rs867421933
CA291619768
933 Q>* No ClinGen
Ensembl
CA291619777
rs915303963
934 V>M No ClinGen
gnomAD
rs1331719537
CA400267343
936 E>G No ClinGen
gnomAD
rs141375140
CA8654931
937 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1359745351
CA400267359
938 K>E No ClinGen
TOPMed
gnomAD
rs1227478469
CA400267380
939 A>E No ClinGen
gnomAD
CA291619800
rs200829308
940 D>G No ClinGen
1000Genomes
CA291619791
rs543103216
940 D>N No ClinGen
gnomAD
CA291619805
rs1034422305
941 G>A No ClinGen
TOPMed
rs1567836453
CA400267416
943 L>V No ClinGen
Ensembl
rs986524232
CA400267442
945 Q>L No ClinGen
gnomAD
rs986524232
CA291619818
945 Q>P No ClinGen
gnomAD
CA291619823
rs911919939
946 E>K No ClinGen
gnomAD
CA400267462
rs1365946495
947 E>K No ClinGen
TOPMed
rs1218008195
CA400267489
949 A>P No ClinGen
gnomAD
rs1218008195
CA400267488
949 A>T No ClinGen
gnomAD
rs1240902204
CA400267493
949 A>V No ClinGen
gnomAD
CA8654933
rs375763222
951 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA400267601
rs1597858217
954 V>G No ClinGen
Ensembl
rs947854755
CA291619972
954 V>M No ClinGen
Ensembl
rs1333332630
CA400267667
960 W>R No ClinGen
gnomAD
rs201630957
CA8654958
961 D>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1251708759
CA400267712
963 A>V No ClinGen
gnomAD
CA8654960
rs151090128
966 V>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA8654961
rs773574170
967 G>R No ClinGen
ExAC
gnomAD
CA400267759
rs1472006894
968 L>F No ClinGen
gnomAD
rs145158901
CA291619999
968 L>P No ClinGen
ESP
TOPMed
rs908077210
CA291620002
970 T>I No ClinGen
TOPMed
CA8654962
rs759129594
971 T>M No ClinGen
ExAC
TOPMed
gnomAD
CA8654966
rs763668442
973 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
CA400267809
rs1209227862
974 I>V No ClinGen
gnomAD
CA400267848
rs1411403659
978 Y>* No ClinGen
gnomAD
CA400267889
rs1415548547
982 S>R No ClinGen
gnomAD
rs756988794
COSM3717462
CA8654969
983 A>V Variant assessed as Somatic; 0.0 impact. liver [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs745757614
CA400267915
984 A>P No ClinGen
ExAC
TOPMed
gnomAD
rs745757614
CA8654971
984 A>S No ClinGen
ExAC
TOPMed
gnomAD
rs758367574
CA8654972
986 I>T No ClinGen
ExAC
TOPMed
gnomAD
CA291620032
rs899398665
987 G>E No ClinGen
TOPMed
TCGA novel 988 A>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8654973
rs375947911
988 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8654974
rs369704766
989 N>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs769068962
CA8654975
990 V>M No ClinGen
ExAC
TOPMed
gnomAD
CA291620064
rs200676222
991 W>* No ClinGen
Ensembl
CA400268029
rs1379483312
993 S>G No ClinGen
TOPMed
CA291620068
rs1011048507
993 S>I No ClinGen
TOPMed
rs1011048507
CA400268033
993 S>N No ClinGen
TOPMed
rs776708112
CA8654976
994 A>D No ClinGen
ExAC
gnomAD
rs1446250425
CA400268046
994 A>T No ClinGen
TOPMed
CA400268050
rs776708112
994 A>V No ClinGen
ExAC
gnomAD
rs748599112
CA8654977
995 W>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1421472021
CA400268100
998 D>G No ClinGen
gnomAD
CA400268134
rs1373552855
1000 M>I No ClinGen
gnomAD
CA400268128
rs1186782722
1000 M>T No ClinGen
gnomAD
rs563422330
CA400268164
1003 S>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA8654978
rs563422330
1003 S>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1295030148
CA400268189
1004 R>S No ClinGen
TOPMed
CA400268195
rs1458383933
1005 Q>E No ClinGen
TOPMed
rs773586959
CA8654979
1005 Q>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA8654981
rs766815731
1007 N>D No ClinGen
ExAC
gnomAD
CA8654986
rs750087743
1014 V>F No ClinGen
ExAC
TOPMed
gnomAD
rs750087743
CA8654985
1014 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA8654987
rs376814354
1015 Y>C No ClinGen
ESP
ExAC
gnomAD
CA400268954
rs1248896033
1016 A>T No ClinGen
TOPMed
CA8654989
rs750179426
1019 G>R No ClinGen
ExAC
gnomAD
rs372833974
CA8654990
1020 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1597858374
CA400269081
1023 G>R No ClinGen
Ensembl
TCGA novel 1027 M>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8655011
rs781154401
1027 M>L No ClinGen
ExAC
TOPMed
gnomAD
CA291620234
rs866685558
1027 M>T No ClinGen
TOPMed
CA400269243
rs781154401
1027 M>V No ClinGen
ExAC
TOPMed
gnomAD
rs1443659184
CA400269290
1030 A>G No ClinGen
gnomAD
rs1465190672
CA400269307
1031 M>K No ClinGen
TOPMed
CA400269348
rs1597858518
1033 M>R No ClinGen
Ensembl
CA400269366
rs1292137788
1034 A>G No ClinGen
gnomAD
CA8655013
rs558924597
1035 A>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA400269424
rs1330634016
1037 G>D No ClinGen
gnomAD
CA291620244
rs951298957
1042 R>C No ClinGen
TOPMed
gnomAD
CA291620245
rs903248542
1042 R>H No ClinGen
TOPMed
gnomAD
rs951298957
CA400269511
1042 R>S No ClinGen
TOPMed
gnomAD
rs1597858540
CA400269540
1043 V>G No ClinGen
Ensembl
CA400269572
rs202227738
1045 H>P No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs202227738
CA8655015
1045 H>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs984039546
CA291620254
1047 A>V No ClinGen
Ensembl
rs1201954518
CA400269615
1048 L>P No ClinGen
gnomAD
rs1201265564
CA400269655
1051 N>D No ClinGen
TOPMed
rs141068276
CA8655017
1054 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1254184775
CA400269732
1054 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA400269730
rs1254184775
1054 R>L No ClinGen
TOPMed
gnomAD
COSM349374
rs1220211975
CA400269741
1055 S>L lung [Cosmic] No ClinGen
cosmic curated
TOPMed
CA8655019
rs371167653
1057 Q>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA291620261
rs371167653
1057 Q>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs776014498
CA8655020
1059 F>L No ClinGen
ExAC
gnomAD
CA8655021
rs761316699
1059 F>S No ClinGen
ExAC
gnomAD
rs769397443
CA8655022
1061 D>N No ClinGen
ExAC
TOPMed
gnomAD
rs374171279
CA400269861
1062 T>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
NCI-TCGA
TOPMed
CA291620279
rs374171279
1062 T>N No ClinGen
ESP
TOPMed
rs1407532300
CA400269870
1063 T>A No ClinGen
gnomAD
CA8655023
rs772980326
1065 S>* No ClinGen
ExAC
gnomAD
rs762885036
CA8655024
1066 G>C No ClinGen
ExAC
TOPMed
gnomAD
CA8655025
rs766311637
1067 R>C Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA400269926
rs766311637
1067 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA8655026
rs751354684
1067 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs927704544
CA291620307
1068 I>V No ClinGen
Ensembl
CA400270006
rs1277124682
CA400270008
1070 N>K No ClinGen
TOPMed
gnomAD
rs767423739
CA8655029
1073 S>F No ClinGen
ExAC
gnomAD
CA8655030
rs752787969
1074 K>E No ClinGen
ExAC
gnomAD
rs937505514
CA291620333
1075 D>V No ClinGen
TOPMed
rs764271392
CA8655032
1077 Y>C No ClinGen
ExAC
gnomAD
rs1318354542
CA400270159
1078 V>I No ClinGen
TOPMed
CA8655035
rs779268222
1079 V>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA400270181
rs779268222
1079 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs79053210
CA291620340
1080 D>N No ClinGen
Ensembl
rs79053210
CA291620345
1080 D>Y No ClinGen
Ensembl
CA400270213
rs1372083874
1081 E>* No ClinGen
TOPMed
gnomAD
rs1449519009
CA400270313
1087 I>T No ClinGen
gnomAD
rs917485829
CA291620360
1092 N>H No ClinGen
TOPMed
gnomAD
rs141660105
CA8655040
1092 N>S No ClinGen
1000Genomes
ExAC
gnomAD
CA8655039
rs141660105
1092 N>T No ClinGen
1000Genomes
ExAC
gnomAD
CA400270435
rs1243417686
1094 F>L No ClinGen
TOPMed
TCGA novel 1095 F>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1380206473
CA400270469
1096 N>D No ClinGen
TOPMed
rs368347928
CA8655042
1097 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1204744261
CA400270517
1098 I>V No ClinGen
gnomAD
rs1172721178
CA400270606
1102 V>A No ClinGen
gnomAD
CA400270600
rs1444248548
1102 V>L No ClinGen
TOPMed
gnomAD
CA400270660
COSM1303037
rs774293390
1104 I>M Variant assessed as Somatic; impact. urinary_tract [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs759372967
CA8655046
1105 M>V No ClinGen
ExAC
gnomAD
CA8655047
rs767414256
1106 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA8655048
rs775474167
1106 A>V No ClinGen
ExAC
gnomAD
CA400270706
rs1383403640
1107 S>N Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs760707428
CA8655049
1107 S>R No ClinGen
ExAC
TOPMed
gnomAD
rs199698625
CA8655050
1108 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs200200001
CA291620400
1108 T>P No ClinGen
1000Genomes
gnomAD
CA8655052
rs564256468
1109 P>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA400270725
rs564256468
1109 P>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs758774339
CA8655055
1112 T>I No ClinGen
ExAC
gnomAD
TCGA novel 1113 V>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA400270783
rs1304500940
1115 I>L No ClinGen
TOPMed
gnomAD
CA8655058
rs140501798
1117 P>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
gnomAD
rs1440448028
CA400270817
1118 L>P No ClinGen
TOPMed
CA400270880
rs1424532321
1124 L>S Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA8655060
rs748745615
1125 V>A No ClinGen
ExAC
gnomAD
rs1363827918
CA400270902
1126 Q>H No ClinGen
TOPMed
CA8655082
rs201622126
1127 R>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA400271006
rs1205639443
1127 R>H No ClinGen
TOPMed
rs1409744358
CA400271061
1132 T>I No ClinGen
gnomAD
CA8655085
rs200903266
1134 R>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA400271069
rs1163700000
1134 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA291621342
rs983704326
1136 L>P No ClinGen
gnomAD
rs983704326
CA291621343
1136 L>R No ClinGen
gnomAD
rs371480718
CA8655087
1138 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8655086
rs200753673
1138 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs1360519835
CA400271095
1139 L>M No ClinGen
TOPMed
CA400271097
rs1411815249
1139 L>P No ClinGen
gnomAD
CA400271104
rs1243993273
1140 E>D No ClinGen
TOPMed
CA8655088
rs776534290
1140 E>G No ClinGen
ExAC
gnomAD
rs1286549736
CA400271100
1140 E>Q No ClinGen
gnomAD
CA400271114
rs1307403371
1142 V>D No ClinGen
TOPMed
rs1307403371
CA400271116
1142 V>G No ClinGen
TOPMed
CA8655089
rs761927302
1142 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA8655090
rs769895458
1144 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA8655091
rs773118008
1144 R>H No ClinGen
ExAC
gnomAD
CA400271128
rs773118008
1144 R>L No ClinGen
ExAC
gnomAD
rs1304503815
CA400271139
1146 P>R No ClinGen
TOPMed
rs763250253
CA8655092
1147 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA400271151
rs1364342363
1148 Y>C No ClinGen
TOPMed
rs766445651
CA8655093
1149 S>P No ClinGen
ExAC
gnomAD
CA400271173
rs1248986992
1151 F>C No ClinGen
gnomAD
TCGA novel 1151 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8655095
rs759969886
COSM3356938
1152 S>L haematopoietic_and_lymphoid_tissue [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
CA8655094
rs752032243
1152 S>T No ClinGen
ExAC
TOPMed
gnomAD
rs756646865
CA8655098
1157 G>D No ClinGen
ExAC
gnomAD
CA291621406
rs778504540
1159 S>I No ClinGen
ExAC
gnomAD
CA8655099
rs778504540
1159 S>T No ClinGen
ExAC
gnomAD
CA8655100
rs376718291
1162 R>G No ClinGen
ESP
ExAC
gnomAD
CA400271237
rs1370054312
1162 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs376718291
CA291621417
1162 R>W No ClinGen
ESP
ExAC
gnomAD
CA400271254
rs1419062685
1165 N>H No ClinGen
TOPMed
CA400271260
rs1250241706
1165 N>K No ClinGen
TOPMed
rs34620384
CA8655101
1166 R>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA8655104
rs746878168
1166 R>H No ClinGen
ExAC
gnomAD
CA8655103
rs746878168
1166 R>L No ClinGen
ExAC
gnomAD
CA8655102
rs34620384
1166 R>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1244595927
CA400271269
1167 S>N No ClinGen
TOPMed
gnomAD
rs200005286
CA8655107
1168 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs748107210
CA8655106
1168 R>W No ClinGen
ExAC
gnomAD
rs139738090
CA8655108
1169 D>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs749327914
CA8655109
1171 E>Q No ClinGen
ExAC
gnomAD
rs1266125910
CA400271306
1173 I>F No ClinGen
Ensembl
CA400271341
rs1210976336
1178 V>M No ClinGen
gnomAD
CA400271365
rs1597859377
1181 N>S No ClinGen
Ensembl
rs774416690
CA8655112
1183 R>S No ClinGen
ExAC
TOPMed
gnomAD
rs768022704
CA8655114
1185 C>R No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 1186 Y>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1597859390
CA400271403
1186 Y>S No ClinGen
Ensembl
rs775945263
CA8655115
1187 P>T No ClinGen
ExAC
TOPMed
gnomAD
CA8655116
rs761274380
1188 Y>* No ClinGen
ExAC
gnomAD
CA8655117
rs764437327
1189 I>F No ClinGen
ExAC
TOPMed
gnomAD
CA400271418
rs764437327
1189 I>L No ClinGen
ExAC
TOPMed
gnomAD
rs750015866
CA8655118
1190 I>F No ClinGen
ExAC
gnomAD
rs757832571
CA8655119
1192 N>D No ClinGen
ExAC
TOPMed
gnomAD
CA8655120
rs766103116
1192 N>S No ClinGen
ExAC
gnomAD
rs199994657
CA8655124
1193 R>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs199994657
CA400271443
1193 R>P No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs199994657
CA8655123
1193 R>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs754578762
CA8655122
1193 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs770270819
CA8655156
1194 W>C No ClinGen
ExAC
gnomAD
CA291621757
rs145688585
1194 W>G No ClinGen
ESP
TOPMed
gnomAD
rs369764327
CA8655158
1198 G>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs767210200
CA8655159
1199 V>A No ClinGen
ExAC
TOPMed
gnomAD
rs890019735
CA291621766
1199 V>M No ClinGen
TOPMed
CA400271738
rs1254073242
1200 E>D No ClinGen
gnomAD
rs752318961
CA8655160
1201 F>I No ClinGen
ExAC
gnomAD
CA291621776
rs752318961
1201 F>V No ClinGen
ExAC
gnomAD
CA291621777
rs886208245
1202 V>A No ClinGen
gnomAD
CA8655162
rs763821248
1202 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs1163110030
CA400271752
1203 G>E No ClinGen
gnomAD
rs1368204183
CA400271756
1204 N>D No ClinGen
gnomAD
TCGA novel 1204 N>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1423612785
CA400271762
1204 N>K No ClinGen
gnomAD
rs373502746
CA400271764
1205 C>G No ClinGen
ESP
TOPMed
gnomAD
rs373502746
CA291621779
1205 C>R No ClinGen
ESP
TOPMed
gnomAD
rs1020000343
CA291621780
1205 C>W No ClinGen
TOPMed
gnomAD
CA8655163
rs753608845
1206 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs757144043
CA8655164
1207 V>L No ClinGen
ExAC
TOPMed
gnomAD
CA400271782
rs1397349300
1208 L>H No ClinGen
TOPMed
CA400271797
rs1379795260
1210 A>G No ClinGen
gnomAD
rs1379795260
CA400271798
1210 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA400271811
rs1229449773
1213 F>L No ClinGen
gnomAD
rs1277013024
CA400271818
1214 A>T No ClinGen
gnomAD
rs1567837537
CA400271826
1215 V>D No ClinGen
Ensembl
rs202122194
CA8655167
1215 V>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs370832587
CA8655168
1216 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8655170
CA8655171
rs768867306
1217 G>R No ClinGen
ExAC
gnomAD
CA8655173
COSM1189507
rs748542035
1219 S>R lung [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA8655175
rs531699413
1223 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs531699413
CA400271877
1223 P>Q No ClinGen
ExAC
TOPMed
gnomAD
rs771604476
CA8655177
1224 G>R No ClinGen
ExAC
gnomAD
rs1300967530
CA400271893
1226 V>A No ClinGen
gnomAD
rs1300967530
CA400271894
1226 V>G No ClinGen
gnomAD
rs1435508873
CA400271895
1227 G>S No ClinGen
gnomAD
CA400271927
rs1340286467
1232 Y>H No ClinGen
gnomAD
CA8655180
rs763733488
1232 Y>S No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 1236 V>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA291622892
rs146589964
1239 A>D Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
NCI-TCGA
TOPMed
CA8655200
rs183386954
1239 A>S No ClinGen
1000Genomes
ExAC
gnomAD
CA400272068
rs1323005839
1244 I>M No ClinGen
gnomAD
CA400272061
rs1196635253
COSM1742608
1244 I>V urinary_tract [Cosmic] No ClinGen
cosmic curated
gnomAD
CA8655202
rs141342899
1245 R>* No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA8655203
rs766417583
1245 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA8655204
rs201446969
1246 M>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1382541859
CA400272114
1248 S>L No ClinGen
gnomAD
CA8655205
rs148031832
1249 D>V No ClinGen
1000Genomes
ExAC
gnomAD
TCGA novel 1250 L>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs767675983
CA8655206
1251 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA400272179
rs1282737884
1253 N>I No ClinGen
gnomAD
CA8655209
rs778127283
1255 V>M No ClinGen
ExAC
gnomAD
CA8655210
rs190695170
1256 A>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA400272209
rs1567837934
1256 A>S No ClinGen
Ensembl
TCGA novel 1256 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8655211
rs757825269
1257 V>A No ClinGen
ExAC
gnomAD
rs1290220058
CA400272230
1258 E>G No ClinGen
gnomAD
CA8655212
rs779457161
1260 V>D No ClinGen
ExAC
gnomAD
TCGA novel 1260 V>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1219717105
CA400272307
1264 S>F No ClinGen
gnomAD
CA400272317
rs1195407776
1265 K>R No ClinGen
TOPMed
gnomAD
rs746546036
CA8655213
1268 T>I No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 1268 T>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 1268 T>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8655232
rs145122306
1270 A>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA400273664
rs145122306
1270 A>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs145122306
CA8655233
1270 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA400273690
rs371532369
1272 W>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA400273691
CA8655236
rs371532369
1272 W>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1385875114
CA400273689
1272 W>L No ClinGen
TOPMed
rs374143344
CA400273692
1273 V>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs374143344
CA8655237
1273 V>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs777545379
CA8655238
1275 E>G No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 1275 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA400273734
rs1338130118
1276 G>C No ClinGen
gnomAD
CA400273726
rs1338130118
1276 G>S No ClinGen
gnomAD
rs770794110
CA8655240
1277 S>N No ClinGen
ExAC
TOPMed
gnomAD
CA8655241
rs773972809
1278 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs759534433
CA8655242
1278 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA8655243
rs759534433
1278 R>L No ClinGen
ExAC
gnomAD
CA8655244
rs775610684
1279 P>L No ClinGen
ExAC
gnomAD
CA400273787
rs1248521884
1280 P>R No ClinGen
TOPMed
CA8655248
rs761899620
1281 E>G No ClinGen
ExAC
gnomAD
CA8655247
rs754026312
1281 E>K No ClinGen
ExAC
gnomAD
CA400273816
rs750695373
1282 G>D No ClinGen
ExAC
gnomAD
rs750695373
CA8655250
1282 G>V No ClinGen
ExAC
gnomAD
rs539388070
CA8655251
1284 P>T No ClinGen
1000Genomes
ExAC
gnomAD
CA291625647
rs371476240
1285 P>L No ClinGen
TOPMed
gnomAD
CA291625650
rs371476240
1285 P>R No ClinGen
TOPMed
gnomAD
CA8655253
rs11568593
1286 R>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs11568593
CA8655252
VAR_029120
1286 R>G No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA8655255
rs572541933
1286 R>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA8655254
rs572541933
1286 R>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA400273856
rs11568593
1286 R>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA8655256
rs200686449
1287 G>W No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA291625707
rs745695336
1288 E>G No ClinGen
Ensembl
CA400273884
rs1292934429
1288 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA400273885
rs1292934429
1288 E>Q No ClinGen
gnomAD
rs561696182
CA8655258
1289 V>A No ClinGen
1000Genomes
ExAC
gnomAD
CA8655257
rs770435677
1289 V>M No ClinGen
ExAC
gnomAD
TCGA novel 1290 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs745649249
CA8655259
1290 E>G No ClinGen
ExAC
TOPMed
gnomAD
rs998857582
CA291625737
1290 E>K No ClinGen
TOPMed
gnomAD
CA8655261
rs140585197
1292 R>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA8655260
rs772101927
1292 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs1016344586
CA291625751
1294 Y>C No ClinGen
Ensembl
COSM354838
CA8655262
rs150484971
1297 R>C lung [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
rs11568591
VAR_020237
CA8655263
1297 R>H does not affect subcellular localizattion; does not affect the transport of monoglucuronosyl bilirubin, bisglucuronosyl bilirubin, leukotriene C4, dehydroepiandrosterone-3-sulfate and 17-beta-glucuronosyl oestradiol [UniProt] No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs762106846
CA8655266
1299 R>L No ClinGen
ExAC
gnomAD
CA8655265
rs762106846
1299 R>Q No ClinGen
ExAC
gnomAD
CA8655264
rs183576378
1299 R>W No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA8655268
rs41280128
1300 P>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA400274047
rs41280128
1300 P>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs752145361
CA8655270
1301 G>D No ClinGen
ExAC
TOPMed
gnomAD
rs752145361
CA400274055
1301 G>V No ClinGen
ExAC
TOPMed
gnomAD
CA8655271
rs755496703
1302 L>P No ClinGen
ExAC
gnomAD
CA400274070
rs1383784366
1303 D>H No ClinGen
gnomAD
CA291625816
rs954030232
1304 L>R No ClinGen
TOPMed
rs199473685
CA400274102
1305 V>A No ClinGen
ExAC
TOPMed
gnomAD
CA8655272
rs199473685
1305 V>E No ClinGen
ExAC
TOPMed
gnomAD
CA400274128
rs1284649308
1307 R>S No ClinGen
gnomAD
TCGA novel 1308 D>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA291625832
rs917838847
1312 H>Q No ClinGen
TOPMed
CA8655274
rs757004358
1312 H>R No ClinGen
ExAC
TOPMed
gnomAD
rs1197143519
CA400274212
1314 H>Y No ClinGen
gnomAD
rs370860497
CA8655277
1315 G>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs370860497
CA8655278
1315 G>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA291625856
rs191359602
1317 E>K No ClinGen
1000Genomes
gnomAD
CA8655281
rs764228555
1318 K>E No ClinGen
ExAC
gnomAD
CA400274390
rs1026887461
1321 I>M No ClinGen
TOPMed
gnomAD
COSM1303038
rs142763506
CA8655316
1322 V>M Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA8655317
rs754738133
1323 G>D No ClinGen
ExAC
gnomAD
rs781001572
CA8655318
1324 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA8655319
rs141856639
1324 R>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA8655320
rs756023369
1325 T>A No ClinGen
ExAC
gnomAD
CA400274432
rs1169702121
1325 T>I No ClinGen
gnomAD
rs749376598
CA8655322
1326 G>E No ClinGen
ExAC
TOPMed
gnomAD
rs1188723457
CA400274455
1327 A>G No ClinGen
gnomAD
CA400274447
rs1334460494
1327 A>T No ClinGen
gnomAD
CA8655323
rs771342063
1328 G>A No ClinGen
ExAC
gnomAD
CA400274474
rs1436118137
1329 K>E No ClinGen
TOPMed
gnomAD
rs779259172
CA291626195
1330 S>A No ClinGen
ExAC
TOPMed
gnomAD
CA8655324
rs779259172
1330 S>T No ClinGen
ExAC
TOPMed
gnomAD
CA291626230
rs866575899
1332 M>T No ClinGen
TOPMed
CA291626225
rs963450991
1332 M>V No ClinGen
gnomAD
rs1159050116
CA400274539
1333 T>I No ClinGen
TOPMed
rs1326302648
CA400274581
1336 L>P No ClinGen
TOPMed
gnomAD
rs141762939
CA8655326
1338 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs775872878
CA8655327
1338 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs1216120620
CA400274623
1339 I>T No ClinGen
gnomAD
CA291626249
rs778493891
1342 A>E No ClinGen
ExAC
gnomAD
CA8655328
rs761096441
1342 A>S No ClinGen
ExAC
gnomAD
CA8655329
rs778493891
1342 A>V No ClinGen
ExAC
gnomAD
rs867858605
CA291626263
1343 A>T No ClinGen
Ensembl
CA8655330
RCV000893717
rs150601692
1344 K>E No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs376990348
CA400274687
CA8655331
1344 K>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA400274681
rs1567839162
1344 K>R No ClinGen
Ensembl
CA400274690
rs1597861850
1345 G>S No ClinGen
Ensembl
rs11568588
CA8655333
1348 R>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1405143543
CA400274731
1348 R>H No ClinGen
gnomAD
rs759141288
CA8655334
1349 I>T No ClinGen
ExAC
gnomAD
CA291626290
rs893358698
1349 I>V No ClinGen
TOPMed
CA8655335
rs767230399
1351 G>D Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1567839186
CA400274760
1351 G>S No ClinGen
Ensembl
CA8655336
rs114877000
RCV000903808
1352 L>F No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1294195102
CA400274791
1353 N>S No ClinGen
TOPMed
gnomAD
CA400274809
rs1222250716
1354 V>A No ClinGen
gnomAD
CA400274814
rs1402974832
1355 A>T No ClinGen
TOPMed
CA400274823
rs1283183522
1355 A>V No ClinGen
gnomAD
rs1597861909
CA400274852
1357 I>T No ClinGen
Ensembl
rs187814086
CA8655339
1358 G>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
gnomAD
rs1418860776
CA400274881
1359 L>P No ClinGen
TOPMed
rs373969806
CA8655341
1360 H>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA291626342
rs369815202
1360 H>R No ClinGen
ESP
TOPMed
gnomAD
rs1051625
CA291626347
1362 L>V No ClinGen
Ensembl
CA8655342
rs746112608
1363 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs370830587
CA8655343
1363 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
gnomAD
rs1423802491
CA400274949
1364 S>C No ClinGen
TOPMed
rs11568590
VAR_020239
CA8655345
1365 Q>R No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA291626364
rs769100902
1370 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs769100902
CA8655347
1370 P>Q No ClinGen
ExAC
TOPMed
gnomAD
CA400275511
rs1597862204
1372 D>A No ClinGen
Ensembl
rs771674549
CA8655374
1373 P>S No ClinGen
ExAC
gnomAD
CA8655375
rs542368509
1377 S>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs760201402
CA400275550
1378 G>A No ClinGen
ExAC
TOPMed
gnomAD
rs760201402
CA400275549
1378 G>E Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs760201402
CA8655376
1378 G>V No ClinGen
ExAC
TOPMed
gnomAD
CA8655377
rs373550035
1379 T>S No ClinGen
ESP
ExAC
gnomAD
rs45461799
CA8655378
1381 R>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA291626877
rs45461799
1381 R>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA8655380
rs182137402
COSM981295
1381 R>H Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs182137402
CA400275561
1381 R>P No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
VAR_020240
rs45461799
CA8655379
1381 R>S No ClinGen
UniProt
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
rs750587507
CA400275569
CA8655381
1382 M>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1259470530
CA400275563
1382 M>V No ClinGen
TOPMed
rs1476414792
CA400275577
1383 N>K No ClinGen
gnomAD
CA8655382
rs758481577
1383 N>S No ClinGen
ExAC
TOPMed
gnomAD
CA400275605
rs751830191
1388 G>C No ClinGen
ExAC
TOPMed
gnomAD
CA8655385
rs751830191
1388 G>S No ClinGen
ExAC
TOPMed
gnomAD
CA400275640
rs1597862249
1393 E>K No ClinGen
Ensembl
TCGA novel 1394 D>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8655387
rs781543371
1394 D>N No ClinGen
ExAC
gnomAD
CA291626951
rs11549764
1398 A>V No ClinGen
Ensembl
CA8655389
rs756674865
1400 E>* No ClinGen
ExAC
gnomAD
rs1268406396
CA400275695
1400 E>G No ClinGen
gnomAD
rs1597862265
CA400275713
1403 H>P No ClinGen
Ensembl
CA400275719
rs1317237681
1404 L>M No ClinGen
TOPMed
gnomAD
rs1204148889
CA400275720
1404 L>Q No ClinGen
gnomAD
rs1045001506
CA291626965
1405 H>Y No ClinGen
TOPMed
gnomAD
rs778233657
CA8655390
1406 T>A No ClinGen
ExAC
TOPMed
gnomAD
rs140060241
CA8655391
1406 T>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs778233657
CA400275731
1406 T>S Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1410401804
CA400275751
1409 S>N No ClinGen
TOPMed
rs774809835
CA8655393
1409 S>R No ClinGen
ExAC
gnomAD
rs768353981
CA8655395
1412 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA8655394
rs143710549
1412 P>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1427696019
CA400275782
1414 G>V No ClinGen
gnomAD
CA8655398
rs769900238
1416 D>N No ClinGen
ExAC
gnomAD
rs1383501101
CA400275803
1417 F>L No ClinGen
gnomAD
rs1385211987
CA400275802
1417 F>S No ClinGen
TOPMed
gnomAD
CA400275810
rs1567839475
1418 Q>H No ClinGen
Ensembl
CA400275809
rs920842139
1418 Q>L No ClinGen
TOPMed
rs920842139
CA291627045
1418 Q>P No ClinGen
TOPMed
rs773169618
CA8655399
1419 C>F No ClinGen
ExAC
gnomAD
rs1339230106
CA400275820
1420 S>P No ClinGen
gnomAD
COSM106608
rs143491192
CA291627059
1422 G>D skin [Cosmic] No ClinGen
cosmic curated
Ensembl
rs762759422
CA8655400
1422 G>S No ClinGen
ExAC
gnomAD
CA8655402
rs148982238
1423 G>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA400275845
rs1232241353
1424 E>A No ClinGen
gnomAD
CA400275852
rs1597862305
1425 N>Y No ClinGen
Ensembl
rs764451902
CA291629092
1427 S>R No ClinGen
ExAC
TOPMed
gnomAD
rs1344101626
CA400275889
1428 V>G No ClinGen
TOPMed
rs532140025
CA8655426
1428 V>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA400275907
rs1164938257
1431 R>T No ClinGen
gnomAD
CA8655427
rs757847097
1433 L>I No ClinGen
ExAC
gnomAD
CA291629158
rs559149910
1434 V>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA8655430
rs559149910
1434 V>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA8655431
rs369148795
1437 A>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8655432
rs747825449
1438 R>* No ClinGen
ExAC
TOPMed
gnomAD
rs769504392
CA400275948
1438 R>L No ClinGen
ExAC
gnomAD
rs769504392
CA400275947
1438 R>P No ClinGen
ExAC
gnomAD
CA8655433
rs769504392
1438 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA400275956
rs1383822842
1440 L>V No ClinGen
gnomAD
CA8655434
rs201242155
1442 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs527762615
CA8655435
1442 R>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs527762615
CA400275969
1442 R>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs527762615
CA400275968
1442 R>P No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs547523159
CA8655438
1445 R>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA8655439
rs143817593
1445 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA400275991
rs775486053
1446 I>F No ClinGen
ExAC
TOPMed
gnomAD
CA400275990
rs775486053
1446 I>L No ClinGen
ExAC
TOPMed
gnomAD
rs775486053
CA8655440
1446 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA400275996
rs1359582966
1447 L>V No ClinGen
TOPMed
gnomAD
rs1244056050
CA400276009
1449 L>V No ClinGen
gnomAD
rs1567840125
CA400276028
1451 E>D No ClinGen
Ensembl
rs151127594
CA8655442
1451 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8655443
rs777114534
1454 A>V No ClinGen
ExAC
TOPMed
gnomAD
COSM3983545
rs762064825
CA8655444
1455 A>T ovary [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA8655447
rs750999404
1457 D>H No ClinGen
ExAC
TOPMed
gnomAD
CA8655446
rs750999404
1457 D>N No ClinGen
ExAC
TOPMed
gnomAD
CA400276069
rs1460353868
1458 L>P No ClinGen
gnomAD
CA8655448
rs767139560
1459 E>G No ClinGen
ExAC
gnomAD
CA400276083
rs1406497194
1460 T>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs755887561
CA8655450
1463 L>V No ClinGen
ExAC
gnomAD
rs144430887
CA8655451
1465 Q>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs937268502
CA291629320
1465 Q>K No ClinGen
TOPMed
gnomAD
rs749145917
CA8655452
1466 A>G No ClinGen
ExAC
gnomAD
CA291629321
rs968583811
1466 A>T No ClinGen
gnomAD
rs1306273512
CA400276166
1468 I>T No ClinGen
gnomAD
rs1320636262
CA400276160
1468 I>V No ClinGen
TOPMed
rs757031551
CA8655453
1469 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1264167287
CA400276179
1469 R>H No ClinGen
gnomAD
rs757031551
CA400276172
1469 R>S No ClinGen
ExAC
TOPMed
gnomAD
CA8655455
rs140690263
1470 T>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8655456
rs570269563
1470 T>N No ClinGen
1000Genomes
ExAC
gnomAD
CA8655457
rs775617023
1471 Q>* No ClinGen
ExAC
gnomAD
rs768973954
CA8655459
1474 T>I No ClinGen
ExAC
TOPMed
gnomAD
rs768973954
CA400276244
1474 T>S No ClinGen
ExAC
TOPMed
gnomAD
CA8655461
rs776687984
1477 V>I No ClinGen
ExAC
rs539211035
CA8655463
1481 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1458443071
CA400276336
1482 H>Q No ClinGen
TOPMed
rs1295551823
CA400276331
1482 H>R No ClinGen
TOPMed
rs773653634
CA8655465
1482 H>Y No ClinGen
ExAC
TOPMed
gnomAD
CA8655467
COSM1165722
rs145738704
1483 R>Q large_intestine [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
COSM1710482
CA8655466
rs763621949
1483 R>W skin [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs1567840188
CA400276350
1484 L>F No ClinGen
Ensembl
rs755545854
CA8655469
1485 N>D No ClinGen
ExAC
TOPMed
gnomAD
CA8655470
rs763617056
1487 I>V No ClinGen
ExAC
gnomAD
rs1567840192
CA400276406
1488 M>I Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
CA8655471
rs753452061
1488 M>T No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 1488 M>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 1497 D>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 1501 V>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1285878786
CA400258042
1502 A>D No ClinGen
gnomAD
rs1567841115
CA400258064
1504 F>L No ClinGen
Ensembl
CA400258067
rs1166512440
1504 F>S No ClinGen
gnomAD
rs1378260943
CA400258081
1506 S>A No ClinGen
TOPMed
CA8655497
rs373017068
1506 S>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA400258086
rs1215244518
1507 P>A No ClinGen
TOPMed
gnomAD
rs1215244518
CA400258085
1507 P>S No ClinGen
TOPMed
gnomAD
CA8655499
rs779787382
1511 I>T No ClinGen
ExAC
TOPMed
gnomAD
CA291589724
rs11656685
1513 A>D No ClinGen
Ensembl
CA400258130
rs1470371545
1514 R>T No ClinGen
gnomAD
CA8655502
rs141186118
1515 G>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8655501
rs141186118
1515 G>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1419264277
CA400258138
1516 I>V No ClinGen
gnomAD
CA291589743
rs781289518
1519 G>R No ClinGen
TOPMed
gnomAD
rs749478863
CA8655506
1523 D>N No ClinGen
ExAC
gnomAD
rs917330486
CA291589755
1525 G>R No ClinGen
TOPMed
gnomAD
CA291589757
rs950099105
1527 A>V No ClinGen
Ensembl

No associated diseases with O15438

10 regional properties for O15438

Type Name Position InterPro Accession
domain B-box-type zinc finger 19 - 61 IPR000315
domain B30.2/SPRY domain 249 - 442 IPR001870
domain SPRY domain 319 - 442 IPR003877
domain Butyrophylin-like, SPRY domain 265 - 282 IPR003879-1
domain Butyrophylin-like, SPRY domain 304 - 328 IPR003879-2
domain Butyrophylin-like, SPRY domain 335 - 348 IPR003879-3
domain Butyrophylin-like, SPRY domain 382 - 406 IPR003879-4
domain Butyrophylin-like, SPRY domain 413 - 431 IPR003879-5
domain SPRY-associated 266 - 318 IPR006574
domain TRIM14, PRY/SPRY domain 269 - 441 IPR044116

Functions

Description
EC Number
Subcellular Localization
  • Basolateral cell membrane ; Multi-pass membrane protein
  • Basal cell membrane ; Multi-pass membrane protein
  • Localized to the basolateral membrane of enterocytes (PubMed:28408210)
  • Localized to the basal membrane of Sertoli cells (PubMed:35307651)
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

4 GO annotations of cellular component

Name Definition
basolateral plasma membrane The region of the plasma membrane that includes the basal end and sides of the cell. Often used in reference to animal polarized epithelial membranes, where the basal membrane is the part attached to the extracellular matrix, or in plant cells, where the basal membrane is defined with respect to the zygotic axis.
integral component of plasma membrane The component of the plasma membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.
membrane A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.
plasma membrane The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

10 GO annotations of molecular function

Name Definition
ABC-type bile acid transporter activity Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: bile acid(in) + ATP + H2O -> bile acid(out) + ADP + phosphate.
ABC-type glutathione S-conjugate transporter activity Catalysis of the reaction: ATP + H2O + glutathione S-conjugate(in) -> ADP + phosphate + glutathione S-conjugate(out).
ABC-type transporter activity Primary active transporter characterized by two nucleotide-binding domains and two transmembrane domains. Uses the energy generated from ATP hydrolysis to drive the transport of a substance across a membrane.
ABC-type xenobiotic transporter activity Catalysis of the reaction: ATP + H2O + xenobiotic(in) = ADP + phosphate + xenobiotic(out).
ATP binding Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
ATPase-coupled inorganic anion transmembrane transporter activity Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: ATP + H2O + inorganic anion(out) = ADP + phosphate + inorganic anion(in).
ATPase-coupled transmembrane transporter activity Primary active transporter of a solute across a membrane, via the reaction: ATP + H2O = ADP + phosphate, to directly drive the transport of a substance across a membrane. The transport protein may be transiently phosphorylated (P-type transporters), or not (ABC-type transporters and other families of transporters). Primary active transport occurs up the solute's concentration gradient and is driven by a primary energy source.
glucuronoside transmembrane transporter activity Enables the transfer of a glucuronosides from one side of a membrane to the other. Glucuronosides are any compound formed by combination of glycosidic linkage of a hydroxy compound (e.g. an alcohol or a saccharide) with the anomeric carbon atom of glucuronate.
icosanoid transmembrane transporter activity Enables the transfer of icosanoids from one side of a membrane to the other.
xenobiotic transmembrane transporter activity Enables the directed movement of a xenobiotic from one side of a membrane to the other. A xenobiotic is a compound foreign to the organim exposed to it. It may be synthesized by another organism (like ampicilin) or it can be a synthetic chemical.

7 GO annotations of biological process

Name Definition
bile acid and bile salt transport The directed movement of bile acid and bile salts into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.
leukotriene transport The directed movement of leukotrienes into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Leukotrienes are linear C20 endogenous metabolites of arachidonic acid (icosa-5,8,11,14-tetraenoic acid) containing a terminal carboxy function and four or more double bonds (three or more of which are conjugated) as well as other functional groups.
transmembrane transport The process in which a solute is transported across a lipid bilayer, from one side of a membrane to the other.
transport across blood-brain barrier The directed movement of substances (e.g. macromolecules, small molecules, ions) through the blood-brain barrier.
xenobiotic metabolic process The chemical reactions and pathways involving a xenobiotic compound, a compound foreign to the organim exposed to it. It may be synthesized by another organism (like ampicilin) or it can be a synthetic chemical.
xenobiotic transmembrane transport The process in which a xenobiotic, a compound foreign to the organim exposed to it, is transported across a membrane. It may be synthesized by another organism (like ampicilin) or it can be a synthetic chemical.
xenobiotic transport The directed movement of a xenobiotic into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. A xenobiotic is a compound foreign to the organim exposed to it. It may be synthesized by another organism (like ampicilin) or it can be a synthetic chemical.

25 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
P14772 BPT1 Bile pigment transporter 1 Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) PR
Q8HXQ5 ABCC1 Multidrug resistance-associated protein 1 Bos taurus (Bovine) PR
Q2QLE5 CFTR Cystic fibrosis transmembrane conductance regulator Pan troglodytes (Chimpanzee) PR
P91660 Rh5 Probable multidrug resistance-associated protein lethal(2)03659 Drosophila melanogaster (Fruit fly) PR
O95255 ABCC6 ATP-binding cassette sub-family C member 6 Homo sapiens (Human) PR
Q92887 ABCC2 ATP-binding cassette sub-family C member 2 Homo sapiens (Human) SS
P33527 ABCC1 Multidrug resistance-associated protein 1 Homo sapiens (Human) PR
Q96J66 ABCC11 ATP-binding cassette sub-family C member 11 Homo sapiens (Human) PR
P13569 CFTR Cystic fibrosis transmembrane conductance regulator Homo sapiens (Human) PR
O15439 ABCC4 ATP-binding cassette sub-family C member 4 Homo sapiens (Human) PR
P26361 Cftr Cystic fibrosis transmembrane conductance regulator Mus musculus (Mouse) PR
Q80WJ6 Abcc12 ATP-binding cassette sub-family C member 12 Mus musculus (Mouse) PR
O35379 Abcc1 Multidrug resistance-associated protein 1 Mus musculus (Mouse) PR
Q8VI47 Abcc2 ATP-binding cassette sub-family C member 2 Mus musculus (Mouse) SS
B2RX12 Abcc3 ATP-binding cassette sub-family C member 3 Mus musculus (Mouse) PR
Q6PQZ2 CFTR Cystic fibrosis transmembrane conductance regulator Sus scrofa (Pig) PR
Q6Y306 Abcc12 ATP-binding cassette sub-family C member 12 Rattus norvegicus (Rat) PR
Q8CG09 Abcc1 Multidrug resistance-associated protein 1 Rattus norvegicus (Rat) PR
Q63120 Abcc2 ATP-binding cassette sub-family C member 2 Rattus norvegicus (Rat) EV
Q00553 CFTR Cystic fibrosis transmembrane conductance regulator Macaca mulatta (Rhesus macaque) PR
Q9SKX0 ABCC13 ABC transporter C family member 13 Arabidopsis thaliana (Mouse-ear cress) PR
Q8VZZ4 ABCC6 ABC transporter C family member 6 Arabidopsis thaliana (Mouse-ear cress) PR
Q9M1C7 ABCC9 ABC transporter C family member 9 Arabidopsis thaliana (Mouse-ear cress) PR
Q9C8G9 ABCC1 ABC transporter C family member 1 Arabidopsis thaliana (Mouse-ear cress) PR
Q9C8H0 ABCC12 ABC transporter C family member 12 Arabidopsis thaliana (Mouse-ear cress) PR
10 20 30 40 50 60
MDALCGSGEL GSKFWDSNLS VHTENPDLTP CFQNSLLAWV PCIYLWVALP CYLLYLRHHC
70 80 90 100 110 120
RGYIILSHLS KLKMVLGVLL WCVSWADLFY SFHGLVHGRA PAPVFFVTPL VVGVTMLLAT
130 140 150 160 170 180
LLIQYERLQG VQSSGVLIIF WFLCVVCAIV PFRSKILLAK AEGEISDPFR FTTFYIHFAL
190 200 210 220 230 240
VLSALILACF REKPPFFSAK NVDPNPYPET SAGFLSRLFF WWFTKMAIYG YRHPLEEKDL
250 260 270 280 290 300
WSLKEEDRSQ MVVQQLLEAW RKQEKQTARH KASAAPGKNA SGEDEVLLGA RPRPRKPSFL
310 320 330 340 350 360
KALLATFGSS FLISACFKLI QDLLSFINPQ LLSILIRFIS NPMAPSWWGF LVAGLMFLCS
370 380 390 400 410 420
MMQSLILQHY YHYIFVTGVK FRTGIMGVIY RKALVITNSV KRASTVGEIV NLMSVDAQRF
430 440 450 460 470 480
MDLAPFLNLL WSAPLQIILA IYFLWQNLGP SVLAGVAFMV LLIPLNGAVA VKMRAFQVKQ
490 500 510 520 530 540
MKLKDSRIKL MSEILNGIKV LKLYAWEPSF LKQVEGIRQG ELQLLRTAAY LHTTTTFTWM
550 560 570 580 590 600
CSPFLVTLIT LWVYVYVDPN NVLDAEKAFV SVSLFNILRL PLNMLPQLIS NLTQASVSLK
610 620 630 640 650 660
RIQQFLSQEE LDPQSVERKT ISPGYAITIH SGTFTWAQDL PPTLHSLDIQ VPKGALVAVV
670 680 690 700 710 720
GPVGCGKSSL VSALLGEMEK LEGKVHMKGS VAYVPQQAWI QNCTLQENVL FGKALNPKRY
730 740 750 760 770 780
QQTLEACALL ADLEMLPGGD QTEIGEKGIN LSGGQRQRVS LARAVYSDAD IFLLDDPLSA
790 800 810 820 830 840
VDSHVAKHIF DHVIGPEGVL AGKTRVLVTH GISFLPQTDF IIVLADGQVS EMGPYPALLQ
850 860 870 880 890 900
RNGSFANFLC NYAPDEDQGH LEDSWTALEG AEDKEALLIE DTLSNHTDLT DNDPVTYVVQ
910 920 930 940 950 960
KQFMRQLSAL SSDGEGQGRP VPRRHLGPSE KVQVTEAKAD GALTQEEKAA IGTVELSVFW
970 980 990 1000 1010 1020
DYAKAVGLCT TLAICLLYVG QSAAAIGANV WLSAWTNDAM ADSRQNNTSL RLGVYAALGI
1030 1040 1050 1060 1070 1080
LQGFLVMLAA MAMAAGGIQA ARVLHQALLH NKIRSPQSFF DTTPSGRILN CFSKDIYVVD
1090 1100 1110 1120 1130 1140
EVLAPVILML LNSFFNAIST LVVIMASTPL FTVVILPLAV LYTLVQRFYA ATSRQLKRLE
1150 1160 1170 1180 1190 1200
SVSRSPIYSH FSETVTGASV IRAYNRSRDF EIISDTKVDA NQRSCYPYII SNRWLSIGVE
1210 1220 1230 1240 1250 1260
FVGNCVVLFA ALFAVIGRSS LNPGLVGLSV SYSLQVTFAL NWMIRMMSDL ESNIVAVERV
1270 1280 1290 1300 1310 1320
KEYSKTETEA PWVVEGSRPP EGWPPRGEVE FRNYSVRYRP GLDLVLRDLS LHVHGGEKVG
1330 1340 1350 1360 1370 1380
IVGRTGAGKS SMTLCLFRIL EAAKGEIRID GLNVADIGLH DLRSQLTIIP QDPILFSGTL
1390 1400 1410 1420 1430 1440
RMNLDPFGSY SEEDIWWALE LSHLHTFVSS QPAGLDFQCS EGGENLSVGQ RQLVCLARAL
1450 1460 1470 1480 1490 1500
LRKSRILVLD EATAAIDLET DNLIQATIRT QFDTCTVLTI AHRLNTIMDY TRVLVLDKGV
1510 1520
VAEFDSPANL IAARGIFYGM ARDAGLA