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

1 structures for Q8N6C5

Entry ID Method Resolution Chain Position Source
AF-Q8N6C5-F1 Predicted AlphaFoldDB

762 variants for Q8N6C5

Variant ID(s) Position Change Description Diseaes Association Provenance
VAR_054960
CA10518062
RCV002479006
RCV000884351
rs6637826
381 N>H X-linked central congenital hypothyroidism with late-onset testicular enlargement [ClinVar] Yes ClinGen
ClinVar
UniProt
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
RCV000033076
rs1556181091
708 A>missing X-linked central congenital hypothyroidism with late-onset testicular enlargement [ClinVar] Yes ClinVar
dbSNP
VAR_069268 708 A>del CHTE; impairs IGSF1 trafficking to the plasma membrane [UniProt] Yes UniProt
RCV000033078
rs398122920
745 E>missing X-linked central congenital hypothyroidism with late-onset testicular enlargement [ClinVar] Yes ClinVar
dbSNP
rs1603404421
RCV000850405
757 R>missing X-linked central congenital hypothyroidism with late-onset testicular enlargement [ClinVar] Yes ClinVar
dbSNP
VAR_069269 765 S>N CHTE; impairs IGSF1 trafficking to the plasma membrane [UniProt] Yes UniProt
rs1603404413
CA414563078
RCV000850406
768 L>P X-linked central congenital hypothyroidism with late-onset testicular enlargement [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
rs1603404297
RCV000995567
803 H>missing X-linked central congenital hypothyroidism with late-onset testicular enlargement [ClinVar] Yes ClinVar
dbSNP
VAR_069270
CA130644
rs397514622
RCV000033079
858 S>F X-linked central congenital hypothyroidism with late-onset testicular enlargement CHTE; impairs IGSF1 trafficking to the plasma membrane [ClinVar, UniProt] Yes ClinGen
ClinVar
UniProt
dbSNP
gnomAD
VAR_069271 942 C>R CHTE; impairs IGSF1 trafficking to the plasma membrane [UniProt] Yes UniProt
rs398122919
CA130641
RCV000033077
972 W>* X-linked central congenital hypothyroidism with late-onset testicular enlargement [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
RCV001751656
rs1220996970
RCV001335742
CA414556934
1184 R>* X-linked central congenital hypothyroidism with late-onset testicular enlargement [ClinVar] Yes ClinGen
ClinVar
TOPMed
dbSNP
rs398122921
RCV000033080
1195 E>missing X-linked central congenital hypothyroidism with late-onset testicular enlargement [ClinVar] Yes ClinVar
dbSNP
CA10518296
COSM1145550
rs745905665
2 T>N lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
TCGA novel 3 L>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1293470884
CA414587985
3 L>P No ClinGen
gnomAD
CA10518294
rs757400547
4 D>E No ClinGen
ExAC
gnomAD
CA10518295
rs781464475
4 D>H No ClinGen
ExAC
TOPMed
gnomAD
CA414587881
rs1439882679
8 E>* No ClinGen
TOPMed
gnomAD
COSM3720253
COSM3720254
rs1439882679
CA414587887
8 E>K haematopoietic_and_lymphoid_tissue [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
rs758722982
CA10518291
10 A>T No ClinGen
ExAC
gnomAD
rs753072958
CA10518290
10 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs765682114
CA10518289
11 T>I No ClinGen
ExAC
TOPMed
gnomAD
CA10518288
rs755509233
17 T>I No ClinGen
ExAC
gnomAD
rs1395304061
CA414587672
18 V>G No ClinGen
gnomAD
CA10518286
rs765959488
20 L>R No ClinGen
ExAC
gnomAD
CA335116593
rs760227945
21 F>L No ClinGen
ExAC
TOPMed
gnomAD
CA10518284
rs772979754
22 C>S No ClinGen
ExAC
gnomAD
TCGA novel 22 C>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA335116581
rs929412430
23 I>V No ClinGen
TOPMed
gnomAD
rs1182900802 24 R>= Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
rs767093474
COSM1465660
COSM1465661
CA10518283
24 R>W large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs1419075113
CA414587415
25 M>I No ClinGen
gnomAD
CA414587392
rs1249022422
27 L>R No ClinGen
TOPMed
gnomAD
rs1190218407
CA414587379
28 G>D No ClinGen
gnomAD
CA10518268
rs765797989
30 T>I No ClinGen
ExAC
TOPMed
gnomAD
rs369648621
CA10518267
31 S>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs369648621
CA335116401
31 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA335116010
rs375472462
33 V>A No ClinGen
ESP
TOPMed
CA414587090
rs1349637754
36 P>S No ClinGen
TOPMed
gnomAD
CA414587087
rs1349637754
36 P>T No ClinGen
TOPMed
gnomAD
CA10518249
rs200514048
38 P>L Variant assessed as Somatic; 0.0007149 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs780619043
CA10518247
43 E>K No ClinGen
ExAC
gnomAD
rs183437257
CA335115975
45 N>S No ClinGen
1000Genomes
rs756957769
CA10518246
48 Q>H No ClinGen
ExAC
gnomAD
CA10518245
rs371848902
50 P>T No ClinGen
ESP
ExAC
gnomAD
CA10518244
rs143455309
51 W>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA414586711
rs1469708154
51 W>L No ClinGen
TOPMed
CA10518243
rs375352320
53 N>S No ClinGen
ExAC
gnomAD
CA10518242
rs752456761
54 I>S No ClinGen
ExAC
gnomAD
CA10518241
rs141414558
55 T>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1297768369
CA414586544
59 R>Q No ClinGen
TOPMed
CA335115907
rs1003272470
60 S>R No ClinGen
TOPMed
gnomAD
CA414586502
rs773319089
61 P>H No ClinGen
ExAC
TOPMed
gnomAD
rs773319089
CA10518239
61 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs751377228
CA414586477
63 R>G No ClinGen
1000Genomes
ExAC
gnomAD
rs768875327
CA10518235
63 R>L No ClinGen
ExAC
TOPMed
rs768875327
CA414586471
63 R>Q No ClinGen
ExAC
TOPMed
CA10518236
rs751377228
63 R>W No ClinGen
1000Genomes
ExAC
gnomAD
CA10518234
rs749629305
64 I>T No ClinGen
ExAC
gnomAD
rs373968818
CA10518233
66 S>N No ClinGen
ESP
ExAC
gnomAD
CA414586397
rs373968818
66 S>T No ClinGen
ESP
ExAC
gnomAD
CA414586346
rs1192783121
70 L>R No ClinGen
gnomAD
rs780847353
CA10518229
81 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA10518228
rs756761325
81 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA10518227
rs751129489
82 P>S No ClinGen
ExAC
gnomAD
rs763878337
CA10518226
83 S>F No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA414586025
rs1201838011
86 T>P No ClinGen
TOPMed
CA335115833
rs762688728
88 Q>H No ClinGen
1000Genomes
CA414585964
rs1480751754
89 V>L No ClinGen
TOPMed
CA414585884
rs1427607014
92 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA10518221
rs754926935
92 L>R No ClinGen
ExAC
gnomAD
CA10518220
rs753783718
95 A>T No ClinGen
ExAC
gnomAD
rs866336304
CA335115822
97 T>I No ClinGen
Ensembl
rs766304273
CA10518219
99 S>A No ClinGen
ExAC
gnomAD
CA335115819
rs1005228089
99 S>F No ClinGen
TOPMed
rs766304273
CA414585713
99 S>P No ClinGen
ExAC
gnomAD
CA10518218
rs190917856
100 N>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA414585607
rs1381739219
102 G>V No ClinGen
gnomAD
CA10518217
rs199926984
103 L>I Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs146648451
CA10518214
COSM1743549
COSM1743550
105 R>Q biliary_tract [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
rs763136637
CA10518215
105 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs779673932
CA335115804
109 W>C No ClinGen
Ensembl
CA335115803
rs769371548
110 K>N No ClinGen
gnomAD
CA10518213
rs770125038
115 S>A No ClinGen
ExAC
gnomAD
CA414585213
rs1439434639
118 S>N No ClinGen
gnomAD
rs746250601
CA10518212
119 K>E No ClinGen
ExAC
TOPMed
gnomAD
rs777220457
CA10518211
120 V>F No ClinGen
ExAC
gnomAD
rs200156640
CA10518209
122 E>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA335115754
rs923537326
125 A>S No ClinGen
TOPMed
gnomAD
rs1445006479
CA414585070
126 P>R No ClinGen
gnomAD
CA414585065
rs1283781974
127 G>R No ClinGen
TOPMed
rs915465798
CA335115584
130 P>A No ClinGen
TOPMed
gnomAD
rs1279456745
CA414584759
138 A>S No ClinGen
gnomAD
rs763233730
CA10518197
139 E>D No ClinGen
ExAC
gnomAD
rs1181812278
CA414584674
141 P>T No ClinGen
TOPMed
CA10518195
rs765510592
142 A>T No ClinGen
ExAC
gnomAD
COSM1715554
CA10518193
COSM1715553
rs777165320
143 L>F skin [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs1402207892
CA414584493
148 V>G No ClinGen
gnomAD
CA10518191
rs747566394
148 V>I No ClinGen
ExAC
gnomAD
TCGA novel 148 V>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA335115541
rs1050418303
150 I>V No ClinGen
Ensembl
rs1158369766
CA414584401
151 L>F No ClinGen
TOPMed
gnomAD
rs771545719
CA10518189
153 H>R No ClinGen
ExAC
gnomAD
CA414584135
rs778853861
162 M>L No ClinGen
gnomAD
rs778853861
CA335115496
162 M>V No ClinGen
gnomAD
rs201255931
CA10518185
166 E>D No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA414584044
rs1343972357
167 G>R No ClinGen
gnomAD
CA335115481
rs928177508
167 G>V No ClinGen
TOPMed
gnomAD
rs779056528
CA414583981
170 E>D No ClinGen
1000Genomes
ExAC
gnomAD
rs750429785
CA10518181
172 V>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA10518179
rs758353807
177 P>L No ClinGen
ExAC
rs752845463
CA10518178
178 T>N No ClinGen
ExAC
gnomAD
TCGA novel 180 T>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1381471947
CA414583813
182 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA414583802
rs1227057524
182 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA414583780
rs1377310406
184 F>L No ClinGen
gnomAD
rs765338440
CA10518177
186 I>F No ClinGen
ExAC
gnomAD
CA414583745
rs1431699831
186 I>T No ClinGen
gnomAD
CA10518174
rs766906335
193 D>Y No ClinGen
ExAC
gnomAD
rs761258246
CA10518173
194 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA10518172
rs745841814
195 G>A No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA10518171
rs772643100
196 V>F No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 197 Y>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs969511654
CA335115405
198 I>M No ClinGen
TOPMed
CA414583485
rs1247807769
200 R>C No ClinGen
gnomAD
COSM3424467
CA10518169
rs149790689
COSM3424466
200 R>H Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 203 I>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1569406632
CA414583390
204 Q>L No ClinGen
Ensembl
rs749000372
CA10518167
212 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1320029504
CA414583174
213 P>S No ClinGen
TOPMed
gnomAD
rs1215390600
CA414583118
215 N>H No ClinGen
gnomAD
CA10518164
rs745677211
215 N>I No ClinGen
ExAC
rs1296683553
CA414583062
218 K>T No ClinGen
gnomAD
CA414583015
rs1432617923
220 V>A No ClinGen
TOPMed
gnomAD
rs751466837
CA335115348
222 A>E No ClinGen
1000Genomes
rs1196700319
CA414580436
224 L>P No ClinGen
TOPMed
CA10518129
rs764840232
226 P>R No ClinGen
ExAC
gnomAD
CA414580377
rs1376537341
226 P>S No ClinGen
TOPMed
TCGA novel 227 K>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA414580285
rs776274590
229 T>I No ClinGen
ExAC
gnomAD
rs776274590
CA10518127
229 T>S No ClinGen
ExAC
gnomAD
rs770826537
CA10518126
233 H>L No ClinGen
ExAC
gnomAD
COSM320951
CA414580223
rs1478073941
233 H>Y lung [Cosmic] No ClinGen
cosmic curated
TOPMed
CA10518125
rs772153736
237 I>M No ClinGen
ExAC
gnomAD
TCGA novel 237 I>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA414580115
rs1375670087
238 M>T No ClinGen
gnomAD
TCGA novel 240 P>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs749338883
CA10518122
241 G>A No ClinGen
ExAC
TOPMed
gnomAD
CA414579917
rs1464839286
244 L>M No ClinGen
gnomAD
rs1160500683
CA414579886
245 N>T No ClinGen
gnomAD
TCGA novel 246 L>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs943994517
CA335114365
247 R>M No ClinGen
TOPMed
gnomAD
rs746170859
CA414579759
250 G>A No ClinGen
ExAC
gnomAD
rs746170859
CA10518119
250 G>E No ClinGen
ExAC
gnomAD
CA414579775
rs1190149101
250 G>R No ClinGen
gnomAD
CA414579750
rs1255713666
251 P>L No ClinGen
gnomAD
CA335114362
rs758967962
252 I>N No ClinGen
TOPMed
rs201801732
CA10518118
253 Y>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1262217637
CA414579529
260 M>R No ClinGen
gnomAD
CA335114349
rs868522864
261 R>K No ClinGen
Ensembl
CA10518116
rs751892734
261 R>S No ClinGen
ExAC
gnomAD
CA10518115
rs764545853
265 L>F No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 266 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs202066467
CA10518114
266 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs202066467
CA414579372
266 E>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1341685207
CA414579224
270 Y>C No ClinGen
TOPMed
CA414579254
rs1268563550
270 Y>H No ClinGen
TOPMed
CA414579208
rs1333058167
271 H>Y No ClinGen
gnomAD
CA10518113
rs752182033
272 K>R No ClinGen
ExAC
TOPMed
gnomAD
CA414579094
rs1289751010
273 K>N No ClinGen
gnomAD
rs764784530
CA10518112
273 K>T No ClinGen
ExAC
gnomAD
TCGA novel 277 N>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA414578974
rs1270674855
COSM1715546
278 E>K Variant assessed as Somatic; impact. skin [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
TCGA novel 279 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10518109
rs776279784
290 D>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1185721929
CA414578582
291 T>S No ClinGen
gnomAD
rs138781536
CA10518108
292 G>R No ClinGen
ESP
ExAC
gnomAD
rs113622982
CA335114307
294 Y>C No ClinGen
Ensembl
CA10518107
rs369311333
295 L>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA10518106
rs773168536
298 Y>H No ClinGen
ExAC
TOPMed
gnomAD
rs1215064968
CA414578135
COSM203884
301 A>T Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
CA414578082
rs1356474070
303 Y>H No ClinGen
gnomAD
CA10518103
rs775710400
304 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA335114291
rs867919349
306 S>* No ClinGen
Ensembl
CA10518102
rs769930908
307 L>F No ClinGen
ExAC
TOPMed
gnomAD
rs144062892
CA335114288
310 D>N No ClinGen
ESP
CA10518101
rs149475767
310 D>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 310 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10518100
rs754603948
311 V>A No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA414577786
rs1392369264
311 V>L No ClinGen
TOPMed
rs771089863
CA10518099
312 L>P No ClinGen
ExAC
gnomAD
rs1293370051
CA414577740
313 K>Q No ClinGen
TOPMed
CA10518098
rs747371029
316 V>M No ClinGen
ExAC
gnomAD
CA10518096
rs758891811
318 D>H No ClinGen
ExAC
gnomAD
CA414577392
rs1322716100
319 T>S No ClinGen
TOPMed
CA414577303
rs1274876991
322 K>E No ClinGen
gnomAD
COSM3424465
rs1395708564
CA414577282
322 K>N large_intestine [Cosmic] No ClinGen
cosmic curated
TOPMed
rs181816563
CA10518086
323 T>S No ClinGen
1000Genomes
ExAC
gnomAD
CA335114121
rs1008082168
CA414577236
324 W>C No ClinGen
gnomAD
CA414577253
rs1306013049
324 W>R No ClinGen
gnomAD
rs892393996
CA335114117
325 L>V No ClinGen
Ensembl
rs1331024134
CA414577226
326 L>V No ClinGen
gnomAD
rs140255239
CA10518084
328 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA10518085
rs761707873
328 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA10518082
rs759622314
COSM755340
329 P>L lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
COSM3735799
CA10518083
rs759622314
329 P>R skin [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs776614400
CA10518081
331 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs771164082
CA10518080
332 V>M No ClinGen
ExAC
gnomAD
rs747255088
CA10518079
335 M>I No ClinGen
ExAC
gnomAD
CA414577005
rs1478349545
335 M>V No ClinGen
gnomAD
rs767952076
CA10518078
336 G>D No ClinGen
1000Genomes
ExAC
gnomAD
rs1327800070
CA414576941
338 N>S No ClinGen
TOPMed
CA335114090
rs762377015
339 V>A No ClinGen
1000Genomes
rs1439079344
CA414576922
339 V>M No ClinGen
gnomAD
CA10518076
rs748526007
342 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA10518077
rs751927434
342 R>W No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA10518075
rs779343891
343 C>R No ClinGen
ExAC
gnomAD
CA414576830
COSM3405971
rs1412267674
344 R>* Variant assessed as Somatic; impact. central_nervous_system [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
CA335114071
rs755467440
344 R>P No ClinGen
ExAC
TOPMed
gnomAD
rs755467440
CA10518074
344 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA414576817
rs1334483462
345 G>E No ClinGen
TOPMed
gnomAD
rs914468962
CA335114069
345 G>R No ClinGen
TOPMed
gnomAD
CA10518073
rs767443066
347 V>M No ClinGen
ExAC
gnomAD
TCGA novel 348 D>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA335114068
rs764461220
350 V>M No ClinGen
1000Genomes
rs1328632181
CA414576653
353 A>T No ClinGen
gnomAD
rs369062707
CA10518072
355 Y>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA414576610
rs1351208091
355 Y>H No ClinGen
gnomAD
rs1408307982
CA414576571
356 K>N No ClinGen
gnomAD
CA414576532
rs1377489634
358 G>A No ClinGen
gnomAD
rs1180581218
CA414576542
358 G>R No ClinGen
TOPMed
TCGA novel 359 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA414576432
rs1414794386
362 P>Q No ClinGen
gnomAD
CA335114067
rs762906079
362 P>S No ClinGen
gnomAD
rs1411859861
CA414576414
363 L>F No ClinGen
TOPMed
TCGA novel 366 L>W Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs904570078
CA335114054
369 T>S No ClinGen
TOPMed
CA10518069
rs767294541
370 S>N No ClinGen
ExAC
gnomAD
rs751436069
COSM1115258
CA10518067
372 D>N Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 376 S>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs770981515
CA10518063
377 F>I No ClinGen
ExAC
gnomAD
rs773364771
CA10518061
382 V>A No ClinGen
ExAC
TOPMed
gnomAD
CA10518060
rs772303572
383 T>S No ClinGen
ExAC
gnomAD
CA414575685
rs1357647356
388 G>R No ClinGen
gnomAD
rs1349767206
CA414575625
390 Y>C No ClinGen
TOPMed
CA10518059
rs774615733
391 S>I No ClinGen
ExAC
gnomAD
CA10518058
rs774615733
391 S>T No ClinGen
ExAC
gnomAD
CA414575569
rs1358380900
392 C>R No ClinGen
gnomAD
CA10518057
rs769182040
393 H>Y No ClinGen
ExAC
gnomAD
CA10518055
rs780617557
COSM1490492
394 Y>C Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
RCV001701274
RCV000971987
CA10518054
rs139140137
395 L>R No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA10518053
rs369509121
397 T>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 399 K>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 400 T>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1182106275
CA414575301
401 S>P No ClinGen
gnomAD
rs771966629
CA10518052
403 R>K No ClinGen
1000Genomes
ExAC
gnomAD
TCGA novel 404 M>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA414575231
rs1309967132
404 M>T No ClinGen
TOPMed
rs757010783
CA10518051
404 M>V No ClinGen
ExAC
gnomAD
rs1210956732
CA414575208
405 P>S No ClinGen
TOPMed
gnomAD
rs1210956732
CA414575215
405 P>T No ClinGen
TOPMed
gnomAD
rs868840173
CA335113958
406 S>P No ClinGen
gnomAD
rs1207343480
CA414574936
413 M>T No ClinGen
gnomAD
rs1203453414
CA414574909
414 V>A No ClinGen
TOPMed
rs113833695
CA335113670
416 D>V No ClinGen
Ensembl
TCGA novel 416 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs770459163
CA414574636
418 P>S No ClinGen
ExAC
gnomAD
CA10518035
rs770459163
418 P>T No ClinGen
ExAC
gnomAD
rs745344236
CA10518034
420 K>N No ClinGen
ExAC
gnomAD
CA335113665
rs894576605
421 P>R No ClinGen
Ensembl
rs201278195
CA335113655
425 A>V No ClinGen
Ensembl
rs372021690
CA10518033
427 P>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs201861108
CA10518032
428 S>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs192621234
CA335113638
436 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
NCI-TCGA
TOPMed
gnomAD
CA10518030
rs200121799
437 I>L No ClinGen
1000Genomes
ExAC
gnomAD
TCGA novel 437 I>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA335113620
rs908754045
439 L>I No ClinGen
Ensembl
CA414574246
rs1369636839
441 C>G No ClinGen
gnomAD
rs1293658262
RCV000578855
CA414574233
442 R>* No ClinGen
ClinVar
dbSNP
gnomAD
CA10518027
rs765044401
442 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA10518028
rs765044401
442 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA414574227
rs1347572763
443 V>I No ClinGen
gnomAD
rs754943880
CA10518026
445 H>Q No ClinGen
ExAC
gnomAD
rs1128617
CA414574130
CA414574135
449 E>D No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 451 S>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 453 E>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10518022
rs774381576
457 R>G No ClinGen
ExAC
TOPMed
CA414573968
rs1487562637
457 R>I No ClinGen
TOPMed
gnomAD
CA414573976
rs1487562637
457 R>K No ClinGen
TOPMed
gnomAD
rs1254005767
CA414573892
460 F>L No ClinGen
TOPMed
gnomAD
CA335113559
rs1128618
462 K>R No ClinGen
Ensembl
rs371729575
CA10518021
464 S>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs367797060
CA10518020
465 V>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 466 N>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 467 G>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10518019
rs775966979
467 G>R No ClinGen
ExAC
TOPMed
rs1313920613
CA414573751
468 D>E No ClinGen
gnomAD
rs770402126
CA10518018
468 D>H No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 468 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA414573665
rs1386098698
474 V>I No ClinGen
gnomAD
CA10518015
rs376073918
477 K>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA10518013
rs777240453
487 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs1603405214
CA414573453
487 R>S No ClinGen
Ensembl
CA10518010
rs778724410
COSM1210383
488 V>I large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs778724410
CA10518011
488 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs754893577
CA10518009
490 T>A No ClinGen
ExAC
gnomAD
CA414573388
rs1176000558
491 H>Y No ClinGen
gnomAD
TCGA novel 492 P>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1431884253
CA414573361
493 N>S No ClinGen
gnomAD
rs1128619
CA335113484
494 I>M No ClinGen
Ensembl
rs1443269466
CA414573346
494 I>T No ClinGen
TOPMed
rs1438315337
CA414573312
496 S>A No ClinGen
gnomAD
TCGA novel 496 S>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs200210980
CA10518006
498 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA10518007
rs200210980
498 R>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA10518004
rs751695248
498 R>H No ClinGen
ExAC
gnomAD
rs200210980
CA10518005
498 R>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 499 S>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1159295558
CA414573265
499 S>N No ClinGen
TOPMed
gnomAD
CA414573248
rs1181405322
500 E>K No ClinGen
TOPMed
CA414573222
rs1249853563
501 P>L No ClinGen
gnomAD
rs1401870775
CA414573209
503 K>R No ClinGen
TOPMed
gnomAD
rs1202356678
CA414573142
507 P>L No ClinGen
gnomAD
rs764195808
COSM1115246
CA10518003
508 A>T Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA10517988
rs779930437
510 Y>* No ClinGen
ExAC
gnomAD
CA10517989
rs749105735
510 Y>C No ClinGen
ExAC
gnomAD
CA10517987
rs756120260
511 L>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA10517985
rs370349619
516 V>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA414572889
rs370349619
516 V>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA414572875
rs1340693049
517 L>P No ClinGen
gnomAD
rs758546152
CA10517984
520 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA10517983
rs752901848
520 A>V No ClinGen
ExAC
gnomAD
rs145291097
CA10517982
522 R>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1208016936
CA414572562
527 M>T No ClinGen
TOPMed
CA10517979
rs375801342
527 M>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 534 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA414572221
rs1283637501
540 R>K Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs139821381
CA414572108
544 R>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA10517974
rs773933133
544 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA10517975
rs139821381
COSM1465656
544 R>W large_intestine [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
rs1569404440
CA414572050
546 L>V No ClinGen
Ensembl
rs1442573761 548 I>= Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
rs1249608280
CA414571998
549 R>G No ClinGen
gnomAD
rs766824998
CA10517959
552 W>R No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 556 T>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10517958
rs200369168
556 T>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA10517957
rs750874639
560 V>F No ClinGen
ExAC
gnomAD
rs1286076796
CA414568991
561 T>I No ClinGen
TOPMed
CA414568955
rs1348743504
563 L>F No ClinGen
TOPMed
TCGA novel 565 I>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
COSM1115242
CA414568852
rs1223457139
567 T>M Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
rs1354161692
CA414568820
568 A>G No ClinGen
TOPMed
rs761349007
CA10517955
COSM3939790
568 A>T oesophagus [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
CA414568804
rs1277147662
COSM3424464
569 L>R Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
CA335111166
rs904759676
571 C>R No ClinGen
TOPMed
CA10517926
rs139829301
574 L>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs746222242
CA10517922
579 L>S No ClinGen
ExAC
gnomAD
rs757757701
CA10517920
580 I>R No ClinGen
ExAC
gnomAD
CA414568077
rs757757701
580 I>T No ClinGen
ExAC
gnomAD
CA10517921
rs781468304
580 I>V No ClinGen
ExAC
gnomAD
CA335110917
rs371669632
581 E>G No ClinGen
ESP
TOPMed
rs1394884588
CA414568059
581 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs752001266
CA10517919
582 E>D No ClinGen
ExAC
TOPMed
gnomAD
rs1174838554
CA414567978
582 E>Q No ClinGen
TOPMed
CA414567927
rs1409450649
583 T>I No ClinGen
TOPMed
TCGA novel 584 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA414567631
rs1288779468
586 V>I No ClinGen
TOPMed
CA10517898
rs374714621
587 M>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA10517897
rs778342386
591 K>N No ClinGen
ExAC
TOPMed
gnomAD
CA10517894
rs766142659
593 E>D No ClinGen
ExAC
TOPMed
gnomAD
rs754650052
CA10517896
593 E>V No ClinGen
ExAC
TOPMed
gnomAD
CA10517893
rs755922399
596 A>P No ClinGen
ExAC
gnomAD
TCGA novel 599 N>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10517892
rs146462069
599 N>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA10517891
RCV000959993
RCV001700952
rs146462069
599 N>T No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
TCGA novel 601 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA335110667
rs370590879
602 L>R No ClinGen
ESP
TOPMed
CA414566975
rs1418858818
603 A>S No ClinGen
TOPMed
TCGA novel 606 K>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA414566743
rs970911777
610 L>I No ClinGen
TOPMed
CA335110655
rs970911777
610 L>V No ClinGen
TOPMed
rs759679565
CA10517887
615 P>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs776789329
CA10517886
616 S>F Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 619 T>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 620 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 621 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA414566171
rs1165068859
624 L>F No ClinGen
gnomAD
CA10517885
rs771177124
629 T>I No ClinGen
ExAC
gnomAD
rs747346183
CA10517884
630 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs773612303
CA10517883
632 I>L No ClinGen
ExAC
gnomAD
rs1026938508
CA335110632
633 A>T No ClinGen
TOPMed
TCGA novel 635 R>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1484266981
CA414565748
635 R>G No ClinGen
TOPMed
rs748665765
CA10517881
635 R>H No ClinGen
ExAC
gnomAD
rs1489517476
CA414565723
636 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1185245635
CA414565735
636 P>T No ClinGen
gnomAD
rs1182523055
CA414565686
637 A>V No ClinGen
TOPMed
gnomAD
CA10517879
rs753648014
638 S>L No ClinGen
1000Genomes
ExAC
rs748852584
CA10517878
639 E>Q No ClinGen
ExAC
TOPMed
gnomAD
rs755869313
CA10517876
640 Q>R No ClinGen
ExAC
gnomAD
rs767488797
CA10517874
641 V>A No ClinGen
ExAC
gnomAD
CA10517875
rs766222070
641 V>I No ClinGen
1000Genomes
ExAC
gnomAD
CA414565519
rs1452430983
642 R>Q No ClinGen
TOPMed
rs1294812060
CA414565533
642 R>W No ClinGen
gnomAD
rs757080190
CA10517873
643 A>T No ClinGen
ExAC
gnomAD
TCGA novel 647 L>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1293600466
CA414565305
649 A>T No ClinGen
TOPMed
gnomAD
CA10517870
rs759498373
651 T>I No ClinGen
ExAC
gnomAD
CA414565219
rs1310281983
652 Q>H No ClinGen
gnomAD
CA10517869
rs372420485
652 Q>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA414564862
rs1435353920
666 M>I No ClinGen
gnomAD
rs1426048283
CA414564808
668 V>A No ClinGen
TOPMed
gnomAD
rs906064488
CA335110562
670 E>D No ClinGen
TOPMed
rs1015854997
CA414564678
676 E>K No ClinGen
TOPMed
rs1015854997
CA335110557
676 E>Q No ClinGen
TOPMed
CA10517864
rs748558414
679 G>R No ClinGen
ExAC
TOPMed
TCGA novel 681 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10517852
rs758413837
685 K>T No ClinGen
ExAC
gnomAD
CA10517851
rs753898757
690 A>V No ClinGen
ExAC
gnomAD
rs760743858
CA10517849
693 T>I No ClinGen
ExAC
gnomAD
rs1263711428
CA414564317
695 R>W No ClinGen
gnomAD
CA10517847
rs372128043
702 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs750582498
CA10517848
702 R>W No ClinGen
ExAC
gnomAD
CA414564137
rs1269403296
705 G>A No ClinGen
gnomAD
CA414564084
rs1158466408
708 A>V No ClinGen
TOPMed
rs997427363
CA335110376
709 G>D No ClinGen
TOPMed
gnomAD
CA10517846
rs762042750
710 M>V No ClinGen
ExAC
TOPMed
gnomAD
CA10517844
rs146715796
711 G>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA414564045
CA10517845
rs774817393
711 G>R No ClinGen
ExAC
gnomAD
rs146715796
CA414564041
711 G>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1398125590
CA414564004
713 A>V No ClinGen
gnomAD
CA10517843
rs763623896
714 L>P No ClinGen
ExAC
gnomAD
rs1371501317
CA414563921
717 E>D No ClinGen
TOPMed
CA10517841
rs769371368
718 G>R No ClinGen
ExAC
gnomAD
CA414563864
rs1390931621
721 E>K No ClinGen
gnomAD
CA414563834
rs1159996291
722 P>S No ClinGen
gnomAD
CA10517840
rs745394994
724 Q>R No ClinGen
ExAC
gnomAD
CA10517839
rs780672123
727 G>A No ClinGen
ExAC
TOPMed
gnomAD
rs780672123
CA414563744
727 G>V Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1460243890
CA414563706
731 R>G No ClinGen
TOPMed
gnomAD
TCGA novel 736 T>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA414563616
rs1167129179
737 I>M No ClinGen
gnomAD
rs746760627
CA10517837
738 Q>* No ClinGen
ExAC
gnomAD
CA10517836
rs750305360
738 Q>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs758261526
CA10517835
740 M>I No ClinGen
ExAC
TOPMed
gnomAD
CA414563543
rs373713899
741 E>D No ClinGen
ExAC
TOPMed
gnomAD
rs778830663
CA10517833
745 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1205186348
CA414563383
749 S>R No ClinGen
gnomAD
CA414563346
rs1349561128
751 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1349561128
CA414563350
751 R>L No ClinGen
gnomAD
TCGA novel 752 T>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs756135266
CA10517832
755 E>K No ClinGen
ExAC
gnomAD
TCGA novel 756 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs750533250
CA10517831
757 R>C Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
rs1128620
CA335110328
757 R>H No ClinGen
Ensembl
rs1128620
CA335110326
757 R>L No ClinGen
Ensembl
rs767602109
CA10517830
759 F>S No ClinGen
ExAC
gnomAD
CA414563188
rs1473217673
763 E>K No ClinGen
TOPMed
gnomAD
rs762143558
CA10517829
767 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA414563086
rs1451184857
768 L>M No ClinGen
gnomAD
VAR_076256 774 E>G No UniProt
TCGA novel 774 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 775 M>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA414562833
rs1271307306
777 P>L No ClinGen
gnomAD
CA414562793
rs1227263678
780 F>C No ClinGen
gnomAD
TCGA novel 782 K>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA414562754
rs1324764715
783 T>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA335110113
rs12393480
786 S>N No ClinGen
Ensembl
TCGA novel 787 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10517806
rs751748646
788 V>A No ClinGen
ExAC
TOPMed
gnomAD
rs1365161816
CA414562685
790 T>N No ClinGen
gnomAD
rs1419054927
CA414562664
792 G>A No ClinGen
TOPMed
TCGA novel 794 R>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1298201857
CA414562646
794 R>Q No ClinGen
TOPMed
rs764245106
CA10517805
795 V>L No ClinGen
ExAC
gnomAD
CA414562560
rs1302357666
803 H>N No ClinGen
gnomAD
CA10517804
rs758796307
803 H>Q No ClinGen
ExAC
gnomAD
rs753155514
CA10517803
805 H>D No ClinGen
ExAC
gnomAD
CA10517802
rs369042210
805 H>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA10517801
rs781166601
806 M>I No ClinGen
1000Genomes
ExAC
gnomAD
TCGA novel 810 L>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 818 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1311567632
CA414562348
821 D>N No ClinGen
TOPMed
rs1274068517
CA414562341
822 R>W No ClinGen
gnomAD
TCGA novel 823 S>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA414562316
rs1340742330
825 A>G No ClinGen
TOPMed
rs1195791420
CA414562320
825 A>S No ClinGen
gnomAD
rs376887010
CA10517798
827 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs771739503
CA10517796
828 G>E No ClinGen
ExAC
gnomAD
TCGA novel 829 A>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs747906302
CA10517795
829 A>P No ClinGen
ExAC
TOPMed
gnomAD
rs1603404281
CA414562287
830 S>T No ClinGen
Ensembl
rs751345380
CA10517793
832 A>T No ClinGen
1000Genomes
ExAC
gnomAD
rs1337317370
CA414562241
835 L>P No ClinGen
gnomAD
rs267606355
COSM1115228
CA335110073
838 S>L Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
CA414562194
rs1288186108
839 V>M No ClinGen
TOPMed
rs1469887000
CA414562158
841 I>T No ClinGen
TOPMed
gnomAD
rs923034176
CA335110067
841 I>V No ClinGen
TOPMed
gnomAD
CA10517791
rs779870876
845 G>E No ClinGen
ExAC
gnomAD
rs747091505
TCGA novel
CA10517789
848 S>R Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
rs778114359
CA10517788
848 S>T No ClinGen
ExAC
gnomAD
rs374589007
CA335110065
850 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA10517786
rs753100283
852 Y>D No ClinGen
ExAC
TOPMed
gnomAD
CA414561929
rs1164339199
852 Y>F No ClinGen
gnomAD
rs755298160
CA10517784
853 D>G No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 854 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10517782
rs766815289
856 I>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs754309168
CA10517783
856 I>V No ClinGen
ExAC
gnomAD
CA414561786
rs1438942639
857 W>C No ClinGen
TOPMed
CA414561762
rs397514622
858 S>C No ClinGen
gnomAD
CA10517780
rs772636261
862 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA414561602
rs1441246420
864 V>L No ClinGen
gnomAD
rs1338637254
CA414561550
867 V>M No ClinGen
gnomAD
rs761511959
CA10517778
869 T>A No ClinGen
ExAC
gnomAD
CA414561333
rs1409444644
873 P>S No ClinGen
TOPMed
TCGA novel 877 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 882 G>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA414561145
rs1432321471
883 P>R No ClinGen
gnomAD
CA10517766
rs755317132
888 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs1398531035
CA414561063
890 S>C No ClinGen
gnomAD
rs1387551405
CA414561055
890 S>R No ClinGen
gnomAD
rs780576446
CA10517764
893 L>V No ClinGen
ExAC
gnomAD
CA10517763
rs756627364
894 R>C No ClinGen
ExAC
gnomAD
rs140707734
CA10517762
COSM1254670
894 R>H oesophagus [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
CA10517760
rs187480172
903 R>T No ClinGen
1000Genomes
ExAC
gnomAD
rs1213997860
CA414560864
904 F>I No ClinGen
gnomAD
COSM1115226
rs763768928
CA10517758
905 A>T Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA10517757
rs762779514
906 L>F No ClinGen
ExAC
gnomAD
rs866816579
CA335109791
910 G>E No ClinGen
Ensembl
rs1312865529
CA414560774
COSM1176704
911 A>V endometrium [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
CA414560755
rs1362052740
913 V>I No ClinGen
gnomAD
TCGA novel 914 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 915 L>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10517753
rs758619704
918 R>Q No ClinGen
ExAC
TOPMed
gnomAD
COSM3843578
CA10517754
rs201712796
918 R>W Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 923 N>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA335109771
rs1006199157
COSM1490491
925 A>T Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
CA414560611
rs1311184044
926 D>N No ClinGen
TOPMed
rs748257227
CA10517751
929 L>F No ClinGen
ExAC
gnomAD
rs866415492
CA335109758
930 H>Y No ClinGen
Ensembl
CA414560528
rs1203919457
931 T>I No ClinGen
TOPMed
TCGA novel 931 T>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
COSM1715540
CA10517749
rs745979788
933 G>E skin [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA335109751
rs1029188801
934 A>T No ClinGen
TOPMed
rs780338952
CA10517747
944 Y>C No ClinGen
ExAC
gnomAD
CA10517745
rs750861873
949 M>R No ClinGen
ExAC
gnomAD
CA414560314
rs750861873
949 M>T No ClinGen
ExAC
gnomAD
rs1405651466
CA414560299
950 S>* No ClinGen
Ensembl
rs201754584
CA10517743
956 L>I Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
gnomAD
CA414560213
rs1603404074
958 M>I No ClinGen
Ensembl
CA414560205
rs1346805502
959 P>S No ClinGen
gnomAD
CA10517741
rs201109191
961 M>V No ClinGen
ExAC
gnomAD
rs752534920
CA10517739
965 T>A No ClinGen
ExAC
gnomAD
CA414559996
rs1344852527
967 T>I No ClinGen
TOPMed
rs1453737391
CA414559980
968 F>L No ClinGen
gnomAD
rs757935035
CA10517723
969 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs1603404024
CA414559943
971 P>T No ClinGen
Ensembl
rs764960641
CA10517721
977 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA414559832
rs1217645183
978 S>G No ClinGen
TOPMed
CA10517720
rs147496468
RCV000970028
980 V>A No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
TCGA novel 980 V>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA335109634
rs909251856
981 V>I No ClinGen
TOPMed
CA10517719
rs753723939
983 M>I No ClinGen
ExAC
gnomAD
rs1569401438
CA414559780
983 M>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
CA10517718
rs766393352
985 Q>H No ClinGen
ExAC
gnomAD
CA414559750
rs1208470763
985 Q>R No ClinGen
TOPMed
CA414559730
rs1289763335
987 V>I No ClinGen
TOPMed
rs200267796
CA10517716
994 P>L Variant assessed as Somatic; 0.0007497 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA414559601
rs1394841302
997 G>R Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs763164584
CA10517714
998 V>I No ClinGen
1000Genomes
ExAC
gnomAD
TCGA novel 999 G>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10517712
CA10517713
rs770044215
1003 H>Q No ClinGen
ExAC
gnomAD
rs1192692070
CA414559518
1003 H>Y No ClinGen
gnomAD
rs746212087
CA10517711
1004 K>R No ClinGen
ExAC
TOPMed
gnomAD
CA10517710
rs777039530
1006 G>E Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs775706281
CA10517708
1007 E>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs150244250
CA10517706
1008 A>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1485520018
CA414559406
1011 M>V No ClinGen
gnomAD
rs182687001
CA10517704
1015 G>E No ClinGen
1000Genomes
ExAC
gnomAD
rs778395460
CA10517703
1016 S>P No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 1017 T>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 1020 D>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10517701
rs753669090
1025 I>V No ClinGen
ExAC
gnomAD
rs1289682949
CA414559142
1030 G>S No ClinGen
gnomAD
CA10517699
rs755975632
1033 M>K No ClinGen
ExAC
gnomAD
CA10517698
rs750269789
COSM203882
1035 R>C Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA10517697
COSM487963
rs141065877
1035 R>H kidney [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA414558977
rs1385817442
1041 H>Y No ClinGen
gnomAD
CA414558938
rs1182855463
1043 D>E No ClinGen
gnomAD
CA10517696
rs762911152
1048 I>M No ClinGen
ExAC
TOPMed
gnomAD
rs1440206550
CA414558871
1048 I>V No ClinGen
gnomAD
rs1243002984
CA414558774
1054 N>S No ClinGen
TOPMed
CA10517694
rs369663225
1055 T>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA414558694
rs1360710987
1060 V>A No ClinGen
TOPMed
CA414558701
rs1225151436
COSM3722148
1060 V>I upper_aerodigestive_tract [Cosmic] No ClinGen
cosmic curated
gnomAD
rs1248821027
CA414558687
1061 T>A No ClinGen
TOPMed
rs776847089
CA10517692
1061 T>I No ClinGen
ExAC
TOPMed
gnomAD
rs1322638814
CA414558581
1064 L>F No ClinGen
gnomAD
rs773671009
CA10517671
1066 K>R No ClinGen
ExAC
gnomAD
CA335109450
rs773671009
1066 K>T No ClinGen
ExAC
gnomAD
CA10517670
rs772442264
1068 S>R No ClinGen
ExAC
gnomAD
CA414558518
rs1168386155
1069 L>V No ClinGen
gnomAD
CA10517669
rs368781680
1073 P>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs151092429
CA10517668
1075 P>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
RCV000881834
CA10517667
rs145402054
RCV001700331
1076 M>I No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1480558695
CA414558473
1076 M>T No ClinGen
gnomAD
rs1197157665
CA414558463
1078 A>T No ClinGen
gnomAD
rs748829433
CA10517666
1079 P>S No ClinGen
ExAC
gnomAD
COSM1719122
CA10517664
rs769535778
1081 E>K NS [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA10517663
rs745638955
1089 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs866536788
CA335109414
1090 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
TCGA novel 1093 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA414557550
rs1224417790
1095 T>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs1274069411
CA414557539
1097 V>F No ClinGen
gnomAD
CA10517660
rs751459717
1103 A>T No ClinGen
ExAC
gnomAD
CA414557476
rs1462195294
1106 P>L No ClinGen
TOPMed
gnomAD
CA10517659
rs375099908
1106 P>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs372604390
CA335109383
1108 E>A No ClinGen
Ensembl
CA10517658
rs755015246
1111 R>S No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 1114 G>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA414557411
rs1397586052
1116 R>G No ClinGen
gnomAD
TCGA novel 1116 R>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs753954641
CA10517657
1123 A>T No ClinGen
ExAC
gnomAD
CA335109370
rs909743754
1126 G>D No ClinGen
TOPMed
gnomAD
rs143211470
RCV000958371
CA10517656
1126 G>S No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA414557337
rs909743754
1126 G>V No ClinGen
TOPMed
gnomAD
rs1471368746
CA414557324
1128 D>G No ClinGen
gnomAD
TCGA novel 1128 D>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 1128 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs762232691
CA335109366
1135 V>A No ClinGen
Ensembl
rs750746517
CA10517654
1139 D>V No ClinGen
ExAC
gnomAD
rs767853834
CA414557238
1140 S>C No ClinGen
ExAC
gnomAD
CA10517653
rs767853834
1140 S>F No ClinGen
ExAC
gnomAD
TCGA novel 1141 T>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 1142 P>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA414557224
rs1204353538
1143 F>L No ClinGen
gnomAD
CA10517652
rs762097558
1145 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs1276800895
CA414557195
1147 N>I No ClinGen
gnomAD
CA335109349
rs267606354
1148 H>Y Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
rs1225628087
CA414557159
1152 L>R No ClinGen
gnomAD
rs774949449
CA10517651
1153 E>D No ClinGen
ExAC
TOPMed
gnomAD
CA414557133
rs1279922428
1156 V>M No ClinGen
gnomAD
rs1215664752
CA414557104
1158 D>E No ClinGen
gnomAD
CA335109266
rs267606353
1167 A>P No ClinGen
Ensembl
CA335109259
rs201123183
1167 A>V No ClinGen
Ensembl
TCGA novel 1169 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs764685434
CA10517630
1172 M>T No ClinGen
ExAC
gnomAD
TCGA novel 1176 G>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10517628
CA414556988
rs776147631
1176 G>R No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 1178 D>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1249769905
CA414556974
1178 D>H No ClinGen
TOPMed
gnomAD
rs1432519366
CA414556970
1178 D>V No ClinGen
TOPMed
gnomAD
rs200127298
CA10517626
1180 T>I No ClinGen
1000Genomes
ExAC
gnomAD
rs200127298
CA10517625
1180 T>N No ClinGen
1000Genomes
ExAC
gnomAD
rs200127298
CA10517627
1180 T>S No ClinGen
1000Genomes
ExAC
gnomAD
CA414556943
rs1418279305
1183 C>R No ClinGen
gnomAD
rs146525641
CA10517624
1184 R>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA10517623
rs746780456
1185 G>R No ClinGen
ExAC
gnomAD
TCGA novel 1188 P>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 1195 E>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs745964986
CA10517617
1196 H>L No ClinGen
ExAC
TOPMed
gnomAD
CA10517618
rs745964986
1196 H>R No ClinGen
ExAC
TOPMed
gnomAD
CA10517616
rs376897895
1197 D>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs376260455
CA10517615
1200 E>A No ClinGen
ESP
ExAC
gnomAD
CA414556766
rs1330005520
1201 A>E No ClinGen
TOPMed
gnomAD
rs758849300
CA10517613
1202 P>A No ClinGen
ExAC
gnomAD
rs753208618
CA10517611
1202 P>L No ClinGen
ExAC
gnomAD
rs758849300
CA10517614
1202 P>S No ClinGen
ExAC
gnomAD
rs758849300
CA10517612
1202 P>T No ClinGen
ExAC
gnomAD
CA10517610
rs765697743
1206 S>A No ClinGen
ExAC
gnomAD
TCGA novel 1210 D>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA414556640
rs1424622487
1213 I>F No ClinGen
TOPMed
rs989494756
CA335109194
1214 N>K No ClinGen
Ensembl
CA10517608
rs753341895
1216 V>A No ClinGen
ExAC
TOPMed
gnomAD
rs759059710
CA10517609
1216 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA10517607
rs766037546
1220 G>S No ClinGen
ExAC
CA16621200
rs1064796725
RCV000484945
1221 I>T No ClinGen
ClinVar
Ensembl
dbSNP
rs868050867
CA335109167
1222 G>R No ClinGen
Ensembl
CA414556531
rs1347860037
1225 S>N No ClinGen
gnomAD
rs1398271819
CA414556515
1227 S>N No ClinGen
TOPMed
CA10517606
rs760383828
1229 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs772852471
CA10517605
1229 R>H No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 1230 L>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA414556492
rs1362988617
1231 Q>K No ClinGen
TOPMed
TCGA novel 1234 P>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1173099609
CA414556464
1235 D>H No ClinGen
gnomAD
rs1214880801
CA414556424
1240 P>S No ClinGen
TOPMed
CA335109155
rs771794539
1243 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA10517604
rs771794539
1243 P>T No ClinGen
ExAC
TOPMed
gnomAD
CA414556382
rs1270840963
1247 V>M No ClinGen
gnomAD
CA10517601
rs148685541
1249 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs745938115
CA10517600
1250 A>V No ClinGen
ExAC
gnomAD
CA414556340
rs1237089742
1252 P>S No ClinGen
gnomAD
rs767189919
CA10517585
1254 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs1256237348
CA414556314
1256 E>A No ClinGen
gnomAD
CA335109014
rs982190685
1258 T>A No ClinGen
TOPMed
CA414556298
rs1197383002
1258 T>S No ClinGen
TOPMed
CA10517583
rs751440159
1259 V>I No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 1262 I>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1176829403
CA414556274
1262 I>T No ClinGen
TOPMed
rs1309588455
CA414556263
COSM327449
1264 R>* haematopoietic_and_lymphoid_tissue [Cosmic] No ClinGen
cosmic curated
gnomAD
CA414556260
rs1408040076
1264 R>L No ClinGen
TOPMed
CA414556262
rs1408040076
COSM1115210
1264 R>Q Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
rs775509128
CA10517580
COSM1115206
1269 V>M large_intestine endometrium [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA414556201
rs1454670635
1271 V>F No ClinGen
gnomAD
CA414556193
rs1302490525
1272 V>I No ClinGen
gnomAD
TCGA novel 1274 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs747114674
CA10517578
CA414556158
1275 L>F No ClinGen
ExAC
TOPMed
gnomAD
CA335108986
rs989058478
1275 L>S No ClinGen
gnomAD
CA10517576
rs772469320
CA414556154
1276 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs772469320
CA10517577
1276 G>W No ClinGen
ExAC
TOPMed
gnomAD
CA10517575
rs748527825
1277 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs1274259755
CA414556131
1278 V>A No ClinGen
TOPMed
CA414556103
rs1440068412
1281 I>T No ClinGen
TOPMed
CA10517572
rs149959109
1282 E>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA414556040
rs1490548625
1286 W>R No ClinGen
TOPMed
TCGA novel 1287 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10517571
rs749703068
1288 R>G No ClinGen
ExAC
gnomAD
CA10517570
rs780562961
1288 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA10517569
rs757697792
1289 L>M No ClinGen
1000Genomes
ExAC
gnomAD
rs749977306
CA10517568
1290 R>* Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
rs749977306
CA414555998
1290 R>G No ClinGen
ExAC
TOPMed
rs139121215
CA10517567
1290 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA10517554
rs749695524
1292 R>S No ClinGen
ExAC
gnomAD
TCGA novel 1293 G>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1263435618
CA414555935
1293 G>S No ClinGen
gnomAD
rs1161560765
CA414555912
1295 E>K No ClinGen
TOPMed
RCV000479275
rs1064796795
1296 T>missing No ClinVar
dbSNP
TCGA novel 1297 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA335108876
rs1040347431
1298 G>R No ClinGen
TOPMed
rs375807261
CA10517551
1299 R>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA10517550
rs780613870
1300 D>G No ClinGen
ExAC
gnomAD
TCGA novel 1301 Q>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs756803963
CA10517549
1302 T>I No ClinGen
ExAC
TOPMed
gnomAD
CA10517547
rs763836774
1304 A>T No ClinGen
ExAC
gnomAD
TCGA novel 1305 L>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10517546
rs758094225
1306 E>* No ClinGen
ExAC
gnomAD
rs144820701
CA10517545
1306 E>D No ClinGen
1000Genomes
ExAC
gnomAD
CA10517544
rs765249623
1308 C>R No ClinGen
ExAC
gnomAD
rs1367757195
CA414555730
1309 N>D No ClinGen
TOPMed
rs1339656009
TCGA novel
CA414555693
1311 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
ClinGen
TOPMed
gnomAD
rs1327370623
CA414555703
1311 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs753343235
CA335108836
1312 G>E No ClinGen
TOPMed
CA335108841
rs1004053259
1312 G>R No ClinGen
Ensembl
rs776718991
CA10517541
1314 P>L No ClinGen
ExAC
gnomAD
CA414555648
rs1259071166
1315 G>D No ClinGen
TOPMed
CA414555653
rs1391402441
1315 G>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs141597908
CA10517540
1316 T>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs373560620
CA335108821
1317 P>S No ClinGen
ESP
TOPMed
rs1159139035
CA414555618
1318 A>V No ClinGen
gnomAD
rs774399890
CA10517538
1325 S>P No ClinGen
ExAC
gnomAD
rs369521240
CA10517537
1327 R>G No ClinGen
ESP
ExAC
gnomAD
rs765250706
CA10517536
1330 V>A No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA10517535
rs775890919
1331 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs764629677
CA335108805
1332 L>M No ClinGen
TOPMed
gnomAD
CA414555490
rs1452512686
1333 P>R No ClinGen
TOPMed
gnomAD
rs1361539588
CA414555485
1334 V>A No ClinGen
TOPMed
COSM487962
CA10517533
rs200440710
1334 V>I kidney large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs1481695060
CA414555478
1335 P>L No ClinGen
gnomAD
rs139882934
CA414555477
1336 I>L No ClinGen
ESP
TOPMed
gnomAD
rs139882934
CA335108791
1336 I>V No ClinGen
ESP
TOPMed
gnomAD

No associated diseases with Q8N6C5

4 regional properties for Q8N6C5

Type Name Position InterPro Accession
domain ABC transporter-like, ATP-binding domain 40 - 267 IPR003439
domain AAA+ ATPase domain 69 - 244 IPR003593
domain ABC transporter, CbiO/EcfA subunit 41 - 244 IPR015856
conserved_site ABC transporter-like, conserved site 166 - 180 IPR017871

Functions

Description
EC Number
Subcellular Localization
  • [Isoform 1]: Membrane ; Multi-pass membrane protein
  • ;
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

3 GO annotations of cellular component

Name Definition
extracellular region The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite.
integral component of membrane The component of a 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.

3 GO annotations of molecular function

Name Definition
activin receptor antagonist activity Interacting with an activin receptor complex to reduce the action of another ligand, the agonist. A receptor antagonist does not initiate signaling upon binding to a receptor, but instead blocks an agonist from binding to the receptor.
coreceptor activity Combining with an extracellular or intracellular messenger, and in cooperation with a nearby primary receptor, initiating a change in cell activity.
inhibin binding Binding to an inhibin monomer, any of the polypeptides that combine to form activin and inhibin dimers.

2 GO annotations of biological process

Name Definition
negative regulation of activin receptor signaling pathway Any process that stops, prevents, or reduces the frequency, rate or extent of the activity of any activin receptor signaling pathway.
regulation of DNA-templated transcription Any process that modulates the frequency, rate or extent of cellular DNA-templated transcription.

1 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q9EPH1 A1bg Alpha-1B-glycoprotein Rattus norvegicus (Rat) PR
10 20 30 40 50 60
MTLDRPGEGA TMLKTFTVLL FCIRMSLGMT SIVMDPQPEL WIESNYPQAP WENITLWCRS
70 80 90 100 110 120
PSRISSKFLL LKDKTQMTWI RPSHKTFQVS FLIGALTESN AGLYRCCYWK ETGWSKPSKV
130 140 150 160 170 180
LELEAPGQLP KPIFWIQAET PALPGCNVNI LCHGWLQDLV FMLFKEGYAE PVDYQVPTGT
190 200 210 220 230 240
MAIFSIDNLT PEDEGVYICR THIQMLPTLW SEPSNPLKLV VAGLYPKPTL TAHPGPIMAP
250 260 270 280 290 300
GESLNLRCQG PIYGMTFALM RVEDLEKSFY HKKTIKNEAN FFFQSLKIQD TGHYLCFYYD
310 320 330 340 350 360
ASYRGSLLSD VLKIWVTDTF PKTWLLARPS AVVQMGQNVS LRCRGPVDGV GLALYKKGED
370 380 390 400 410 420
KPLQFLDATS IDDNTSFFLN NVTYSDTGIY SCHYLLTWKT SIRMPSHNTV ELMVVDKPPK
430 440 450 460 470 480
PSLSAWPSTV FKLGKAITLQ CRVSHPVLEF SLEWEERETF QKFSVNGDFI ISNVDGKGTG
490 500 510 520 530 540
TYSCSYRVET HPNIWSHRSE PLKLMGPAGY LTWNYVLNEA IRLSLIMQLV ALLLVVLWIR
550 560 570 580 590 600
WKCRRLRIRE AWLLGTAQGV TMLFIVTALL CCGLCNGVLI EETEIVMPTP KPELWAETNF
610 620 630 640 650 660
PLAPWKNLTL WCRSPSGSTK EFVLLKDGTG WIATRPASEQ VRAAFPLGAL TQSHTGSYHC
670 680 690 700 710 720
HSWEEMAVSE PSEALELVGT DILPKPVISA SPTIRGQELQ LRCKGWLAGM GFALYKEGEQ
730 740 750 760 770 780
EPVQQLGAVG REAFFTIQRM EDKDEGNYSC RTHTEKRPFK WSEPSEPLEL VIKEMYPKPF
790 800 810 820 830 840
FKTWASPVVT PGARVTFNCS TPHQHMSFIL YKDGSEIASS DRSWASPGAS AAHFLIISVG
850 860 870 880 890 900
IGDGGNYSCR YYDFSIWSEP SDPVELVVTE FYPKPTLLAQ PGPVVFPGKS VILRCQGTFQ
910 920 930 940 950 960
GMRFALLQEG AHVPLQFRSV SGNSADFLLH TVGAEDSGNY SCIYYETTMS NRGSYLSMPL
970 980 990 1000 1010 1020
MIWVTDTFPK PWLFAEPSSV VPMGQNVTLW CRGPVHGVGY ILHKEGEATS MQLWGSTSND
1030 1040 1050 1060 1070 1080
GAFPITNISG TSMGRYSCCY HPDWTSSIKI QPSNTLELLV TGLLPKPSLL AQPGPMVAPG
1090 1100 1110 1120 1130 1140
ENMTLQCQGE LPDSTFVLLK EGAQEPLEQQ RPSGYRADFW MPAVRGEDSG IYSCVYYLDS
1150 1160 1170 1180 1190 1200
TPFAASNHSD SLEIWVTDKP PKPSLSAWPS TMFKLGKDIT LQCRGPLPGV EFVLEHDGEE
1210 1220 1230 1240 1250 1260
APQQFSEDGD FVINNVEGKG IGNYSCSYRL QAYPDIWSEP SDPLELVGAA GPVAQECTVG
1270 1280 1290 1300 1310 1320
NIVRSSLIVV VVVALGVVLA IEWKKWPRLR TRGSETDGRD QTIALEECNQ EGEPGTPANS
1330
PSSTSQRISV ELPVPI