Q6U841
Gene name |
SLC4A10 |
Protein name |
Sodium-driven chloride bicarbonate exchanger |
Names |
Solute carrier family 4 member 10 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:57282 |
EC number |
|
Protein Class |
|
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 Q6U841
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q6U841-F1 | Predicted | AlphaFoldDB |
655 variants for Q6U841
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1289717040 CA349210694 |
2 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 3 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA59593294 rs1051775487 |
3 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA1931065 rs370756267 |
6 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA59593296 rs771437643 |
9 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1573940971 CA349210755 |
10 | M>R | No |
ClinGen Ensembl |
|
|
rs1230555417 CA349210767 |
12 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1196591132 CA349210794 |
16 | T>M | No |
ClinGen Ensembl |
|
| TCGA novel | 17 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA59694707 rs749652105 |
18 | N>H | No |
ClinGen Ensembl |
|
|
CA349216321 rs1559212321 |
19 | D>Y | No |
ClinGen Ensembl |
|
|
rs1235280305 CA349216387 |
23 | V>A | No |
ClinGen TOPMed |
|
|
rs756214742 CA1931097 |
26 | R>I | No |
ClinGen ExAC gnomAD |
|
|
rs1196223525 CA349216443 |
27 | G>D | No |
ClinGen gnomAD |
|
|
rs1574880678 CA349216470 |
29 | T>N | No |
ClinGen Ensembl |
|
|
CA349216478 rs1261502891 |
30 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs764362891 CA1931098 |
30 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA349216497 rs1368523271 |
32 | I>V | No |
ClinGen gnomAD |
|
|
rs914673973 CA59694747 |
34 | K>Q | No |
ClinGen TOPMed |
|
|
CA349216517 rs1161093935 |
35 | T>A | No |
ClinGen gnomAD |
|
|
rs1574880880 CA349216520 |
35 | T>K | No |
ClinGen Ensembl |
|
|
CA349216525 rs1364498206 |
36 | H>R | No |
ClinGen gnomAD |
|
|
rs1400244361 CA349216544 |
38 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs760278871 CA349216551 |
39 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754019335 CA1931099 |
39 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA1931121 rs758894714 |
46 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
COSM1008275 rs780653423 CA1931122 COSM1590797 |
46 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA59718234 rs567151480 |
51 | G>A | No |
ClinGen Ensembl |
|
|
rs908530845 CA59718251 |
55 | P>T | No |
ClinGen Ensembl |
|
| TCGA novel | 56 | L>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA349216142 rs1424392466 |
57 | G>E | No |
ClinGen TOPMed |
|
|
rs1575047304 CA349216139 |
57 | G>R | No |
ClinGen Ensembl |
|
|
rs1026519712 CA59718261 |
59 | R>G | No |
ClinGen TOPMed |
|
|
CA59718265 rs759673660 |
59 | R>I | No |
ClinGen TOPMed |
|
|
rs770073010 CA349216167 |
61 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770073010 CA1931127 |
61 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs372550007 CA1931129 |
63 | R>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
CA1931130 rs770723696 |
64 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA59718301 rs1038439527 |
64 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs774276605 CA349216194 |
65 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 65 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 67 | H>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA349216210 rs1372967649 |
68 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
COSM1008277 CA1931132 COSM1153502 rs759420527 |
68 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs544770669 CA1931133 |
70 | H>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 71 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs775884037 CA59718319 |
72 | H>R | No |
ClinGen Ensembl |
|
|
rs776546911 CA1931134 |
73 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 73 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 77 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1931136 rs762784608 |
79 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1303812995 CA349216301 |
79 | R>K | No |
ClinGen gnomAD |
|
|
CA349216338 rs1310853653 |
82 | G>R | No |
ClinGen gnomAD |
|
|
CA349216377 rs1259341628 |
84 | E>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA349216370 rs1227805051 |
84 | E>G | No |
ClinGen TOPMed |
|
|
rs1365933953 CA349216379 |
85 | D>N | No |
ClinGen TOPMed |
|
|
rs766687720 CA349216420 |
88 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs766687720 CA1931139 |
88 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1480081907 CA349216433 |
89 | S>A | No |
ClinGen gnomAD |
|
|
CA349216431 rs1480081907 |
89 | S>P | No |
ClinGen gnomAD |
|
|
CA349216429 rs1480081907 |
89 | S>T | No |
ClinGen gnomAD |
|
|
rs1479368740 CA349216449 |
90 | P>L | No |
ClinGen gnomAD |
|
|
CA349216444 rs1426977623 |
90 | P>T | No |
ClinGen gnomAD |
|
|
rs752056848 CA1931140 |
91 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
CA349218858 rs753216065 |
93 | D>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1931162 rs753216065 |
93 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA59738115 rs556172929 |
94 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA349218864 rs556172929 |
94 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
rs770849707 CA59738136 |
96 | S>A | No |
ClinGen Ensembl |
|
|
CA59738139 rs1056251804 |
98 | R>K | No |
ClinGen Ensembl |
|
|
CA349218891 rs1489178338 |
99 | V>I | No |
ClinGen gnomAD |
|
| TCGA novel | 103 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs267598940 CA59738160 |
104 | G>E | No |
ClinGen Ensembl |
|
| TCGA novel | 105 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM263726 rs756835311 CA1931166 |
106 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA349218937 rs756835311 |
106 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1931167 rs778663790 |
107 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1183624083 CA349218953 |
108 | D>Y | No |
ClinGen gnomAD |
|
|
rs1559366385 CA349218969 |
110 | E>A | No |
ClinGen Ensembl |
|
|
CA1931169 rs758229636 |
110 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs780074330 CA1931170 |
111 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1399384677 CA349218983 |
112 | H>Y | No |
ClinGen gnomAD |
|
|
rs929159822 CA59738224 |
113 | I>F | No |
ClinGen TOPMed |
|
|
RCV000517001 CA349218990 rs929159822 |
113 | I>V | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
rs1192069505 CA349218997 |
114 | P>S | No |
ClinGen gnomAD |
|
|
rs769949115 CA1931172 |
115 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA1931171 rs746977573 |
115 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA59738232 rs368047320 |
116 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1450848104 CA349219007 |
116 | D>N | No |
ClinGen gnomAD |
|
|
CA1931175 rs771054985 |
122 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA1931176 rs774693047 |
123 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA1931177 rs372570626 |
125 | C>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA349219071 rs372570626 |
125 | C>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA349219080 rs1203096401 |
126 | W>L | No |
ClinGen gnomAD |
|
|
CA1931178 rs201440727 COSM84639 |
127 | R>H | pancreas [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA1931179 rs201440727 |
127 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs761191332 CA1931180 |
128 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA59738375 rs372141989 |
132 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs372141989 CA349219117 |
132 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs372141989 CA1931183 |
132 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs926875340 CA59738382 |
133 | E>G | No |
ClinGen TOPMed |
|
|
CA349219138 rs899870875 |
135 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
COSM3748712 CA349219141 COSM3748711 rs1382333814 COSM385342 |
135 | R>Q | lung stomach [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs76923622 CA59748572 |
141 | L>F | No |
ClinGen Ensembl |
|
|
rs200684832 CA59748577 |
144 | E>* | No |
ClinGen Ensembl |
|
| TCGA novel | 151 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1931200 rs777176613 |
152 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1253123554 CA349219286 |
154 | W>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs764837556 CA349219337 |
161 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs764837556 CA1931202 |
161 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA349219350 rs1197648540 |
163 | S>L | No |
ClinGen gnomAD |
|
|
CA349219443 rs1301577652 |
176 | N>S | No |
ClinGen TOPMed |
|
|
CA1931206 rs751395564 |
177 | G>* | No |
ClinGen ExAC gnomAD |
|
|
rs1190258769 CA349219450 |
177 | G>A | No |
ClinGen Ensembl |
|
|
rs754880370 CA1931207 |
178 | T>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 181 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs954295335 CA59748624 |
181 | L>R | No |
ClinGen Ensembl |
|
|
rs1301022818 CA349219483 |
183 | M>V | No |
ClinGen gnomAD |
|
|
CA349219499 rs1344686373 |
185 | A>T | No |
ClinGen gnomAD |
|
|
COSM1008285 COSM1590794 rs537192317 CA1931209 |
186 | N>S | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs757242243 CA1931210 |
187 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs1175522702 CA349219539 |
190 | E>D | No |
ClinGen TOPMed |
|
|
rs1575300576 CA349219532 |
190 | E>K | No |
ClinGen Ensembl |
|
|
CA1931212 rs745983686 |
192 | A>E | No |
ClinGen ExAC gnomAD |
|
|
rs779072501 CA1931211 |
192 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA349219552 rs1361807499 |
193 | D>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 194 | M>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 195 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1931226 rs547965934 |
199 | Q>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 201 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs752528225 CA1931227 |
202 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs1445996896 CA349219709 |
203 | G>D | No |
ClinGen gnomAD |
|
|
CA349219703 rs1243199230 |
203 | G>S | No |
ClinGen gnomAD |
|
|
CA349219737 rs1457584367 |
206 | N>S | No |
ClinGen TOPMed |
|
|
COSM1528611 CA1931228 COSM1528612 rs756056078 |
210 | R>C | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA59753082 rs754718619 |
210 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs763974777 CA1931229 |
211 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA349219806 rs1160967516 |
212 | R>T | No |
ClinGen gnomAD |
|
|
rs758528961 CA1931231 |
214 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs750507463 CA1931230 |
214 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1158699240 CA349219823 |
214 | H>Y | No |
ClinGen gnomAD |
|
|
CA1931232 rs780189691 |
215 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 215 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1931233 rs747266395 |
216 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA59753117 CA349219851 rs868716862 |
218 | M>I | No |
ClinGen Ensembl |
|
|
rs755289229 CA1931234 |
218 | M>K | No |
ClinGen ExAC gnomAD |
|
|
CA1931235 rs781602212 |
220 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs925077721 CA59753120 |
220 | Q>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA349219898 rs1265693143 |
222 | H>Q | No |
ClinGen TOPMed |
|
|
rs1223068536 CA349219902 |
223 | H>N | No |
ClinGen TOPMed |
|
|
CA1931237 rs770330131 |
225 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA349219949 rs1305273398 |
226 | Q>H | No |
ClinGen gnomAD |
|
|
CA1931238 rs373648693 |
227 | K>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs377627238 CA1931239 |
228 | K>N | No |
ClinGen ESP ExAC gnomAD |
|
|
CA1931240 rs770571506 |
229 | L>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 229 | L>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 232 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA349220024 rs1460376560 |
234 | P>A | No |
ClinGen gnomAD |
|
|
rs1575340706 CA349220030 |
234 | P>R | No |
ClinGen Ensembl |
|
|
CA349220022 rs1460376560 |
234 | P>T | No |
ClinGen gnomAD |
|
|
CA349220033 rs1575340733 |
235 | I>L | No |
ClinGen Ensembl |
|
|
CA349220045 rs1201172230 |
236 | V>F | No |
ClinGen gnomAD |
|
|
CA349220060 rs1219783826 |
237 | R>H | No |
ClinGen TOPMed |
|
|
rs1219783826 CA349220063 |
237 | R>L | No |
ClinGen TOPMed |
|
| TCGA novel | 240 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA349220098 rs1342999545 |
241 | D>Y | No |
ClinGen TOPMed |
|
|
rs1299615928 CA349220116 |
242 | I>N | No |
ClinGen TOPMed |
|
|
CA59753173 rs867008585 |
243 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA349220198 rs759282717 |
249 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759282717 CA1931242 |
249 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA349220569 rs1178622733 |
250 | N>H | No |
ClinGen gnomAD |
|
|
CA349220586 rs1248129326 |
252 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA349220593 rs1399636004 |
253 | D>N | No |
ClinGen TOPMed |
|
|
CA349220601 rs1559411656 |
254 | K>Q | No |
ClinGen Ensembl |
|
| TCGA novel | 255 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA349220615 rs1414105895 |
255 | N>K | No |
ClinGen gnomAD |
|
|
rs1480113881 CA348976883 |
258 | Q>H | No |
ClinGen gnomAD |
|
|
CA1931259 rs773976374 |
260 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs550963888 CA1931258 |
260 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1931261 rs745409738 |
261 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs745409738 CA1931260 |
261 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
CA1931262 rs775059170 |
262 | P>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 265 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1931263 rs535560207 |
266 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1411794285 CA348976932 |
267 | A>G | No |
ClinGen gnomAD |
|
| TCGA novel | 267 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1931264 rs763798251 |
268 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs1425561778 CA348976975 |
273 | N>S | No |
ClinGen gnomAD |
|
|
CA1931266 rs761718725 |
274 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776505084 CA1931265 |
274 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1305300252 CA348976979 |
274 | D>N | No |
ClinGen gnomAD |
|
|
rs1305300252 CA348976981 |
274 | D>Y | No |
ClinGen gnomAD |
|
|
rs765203158 CA1931267 |
279 | N>H | No |
ClinGen ExAC gnomAD |
|
|
rs1166704487 CA348977017 |
279 | N>S | No |
ClinGen TOPMed |
|
|
rs1239250106 CA348977022 |
280 | S>C | No |
ClinGen gnomAD |
|
|
CA348977024 rs1215755332 |
280 | S>N | No |
ClinGen gnomAD |
|
|
rs1215755332 CA348977025 |
280 | S>T | No |
ClinGen gnomAD |
|
|
rs1270301042 CA348977031 |
281 | T>A | No |
ClinGen gnomAD |
|
|
CA1931269 rs759670652 |
283 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751637683 CA59583757 |
283 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs751637683 CA1931268 |
283 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA1931270 rs767720568 |
285 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA348977057 rs1221650821 |
285 | S>N | No |
ClinGen gnomAD |
|
|
rs759594062 CA1931287 |
287 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs759594062 CA348977083 |
287 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA1931288 rs371563853 |
288 | L>P | No |
ClinGen ESP ExAC gnomAD |
|
|
CA348977087 rs371563853 |
288 | L>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
CA1931290 rs760783234 |
290 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs181577709 CA1931292 |
292 | Q>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA348977111 rs181577709 |
292 | Q>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA348977120 rs1279892391 |
293 | K>N | No |
ClinGen gnomAD |
|
|
rs1352642908 CA348977125 |
294 | G>E | No |
ClinGen gnomAD |
|
|
CA348977131 rs1283386085 |
295 | H>P | No |
ClinGen gnomAD |
|
|
CA1931293 rs754250799 |
296 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348977139 rs754250799 |
296 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348977140 rs754250799 |
296 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1205587768 CA348977141 |
297 | S>G | No |
ClinGen gnomAD |
|
|
CA1931294 rs757750211 |
297 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs979881588 CA59584865 |
299 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1234950167 CA348977160 |
299 | C>W | No |
ClinGen gnomAD |
|
|
rs1332160021 CA348977194 |
304 | R>K | No |
ClinGen gnomAD |
|
|
CA348977209 rs1315350331 |
306 | E>A | No |
ClinGen TOPMed |
|
|
rs867899383 CA59584878 |
306 | E>K | No |
ClinGen Ensembl |
|
|
rs145064806 CA1931296 |
308 | G>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA348977232 rs1352439192 |
309 | P>L | No |
ClinGen TOPMed |
|
|
CA1931297 rs757883905 |
310 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA1931298 rs779412073 |
311 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA1931299 rs746573378 |
312 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
CA348977260 rs1412871926 |
314 | E>K | No |
ClinGen TOPMed |
|
|
rs768193405 CA1931300 |
316 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348977298 rs1268725961 |
317 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA348977299 rs1268725961 |
317 | V>G | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 317 | V>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA348977355 rs1359446726 |
325 | I>V | No |
ClinGen TOPMed |
|
|
rs1575417532 RCV000997247 CA348977370 |
327 | P>L | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs536638756 CA1931323 |
330 | E>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs749146051 CA1931324 |
331 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA1931326 rs774405059 |
332 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs768858140 CA1931328 |
334 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 335 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA348977435 rs1363162131 |
338 | E>K | No |
ClinGen TOPMed |
|
|
CA348977444 rs776950452 |
339 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs762145468 CA1931330 |
340 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs552228145 CA1931331 |
341 | F>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA348977465 rs1162187328 |
342 | L>S | No |
ClinGen TOPMed |
|
|
CA1931334 rs763437005 |
344 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1400422 CA1931333 COSM1400423 rs763437005 |
344 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs201945239 CA1931336 |
348 | A>E | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
CA1931335 rs201945239 COSM3961358 COSM3961357 COSM3961356 |
348 | A>G | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC gnomAD |
|
CA348977501 rs201945239 COSM1226419 COSM1226418 |
348 | A>V | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC gnomAD |
|
CA348977538 rs1265256059 |
354 | P>S | No |
ClinGen gnomAD |
|
|
CA59588233 rs887353064 |
355 | A>G | No |
ClinGen TOPMed |
|
|
COSM1148339 COSM717255 rs534723058 COSM1647036 CA1931338 |
356 | V>I | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA348977557 rs755730225 CA1931340 COSM370027 |
357 | L>F | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1575417972 CA348977571 |
359 | Q>H | No |
ClinGen Ensembl |
|
| TCGA novel | 360 | G>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1553605433 CA348977597 RCV000518674 |
364 | V>I | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs369816610 CA1931342 |
366 | I>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA59588262 rs1039822470 |
368 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
| TCGA novel | 368 | T>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1170572814 CA348977648 |
370 | F>V | No |
ClinGen TOPMed |
|
|
rs778788467 CA1931362 |
371 | L>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 371 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA348977663 rs1431509828 |
372 | F>Y | No |
ClinGen TOPMed |
|
|
rs1374330321 CA348977672 |
373 | I>T | No |
ClinGen gnomAD |
|
|
CA59589822 rs867004542 |
376 | G>E | No |
ClinGen Ensembl |
|
|
CA1931364 rs562389348 |
377 | P>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs748183998 CA1931366 |
381 | G>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 383 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 384 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA348977759 rs1325144049 |
386 | E>D | No |
ClinGen gnomAD |
|
|
CA1931368 rs777818237 |
391 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs770494661 CA1931367 |
391 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1480765679 CA348977798 |
393 | T>A | No |
ClinGen gnomAD |
|
|
rs996785470 CA59589861 |
396 | T>S | No |
ClinGen Ensembl |
|
|
rs61750845 CA1931381 |
403 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348977890 rs1320143669 |
404 | A>G | No |
ClinGen gnomAD |
|
| TCGA novel | 404 | A>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs758283497 CA1931382 |
404 | A>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 404 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM3390067 COSM1157820 CA1931383 rs558073659 COSM268458 |
410 | R>C | Variant assessed as Somatic; 0.0 impact. pancreas large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs911712300 CA59595706 |
410 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA348977938 rs1443852265 |
411 | N>S | No |
ClinGen TOPMed |
|
|
rs61748241 COSM717252 CA1931387 COSM1647033 COSM1148342 |
413 | L>F | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA348977960 rs1467335624 |
414 | V>A | No |
ClinGen gnomAD |
|
|
rs1000114957 CA59595734 |
417 | I>M | No |
ClinGen Ensembl |
|
|
CA1931389 rs779161996 |
417 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348977999 rs1362110628 |
420 | F>S | No |
ClinGen gnomAD |
|
|
CA1931391 rs370972333 |
421 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs775931599 CA1931392 |
423 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA348978034 rs1450453852 |
426 | V>L | No |
ClinGen TOPMed |
|
|
rs1293712408 CA348978049 |
428 | P>L | No |
ClinGen gnomAD |
|
|
rs769090948 CA1931395 |
432 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs1242764753 CA348978112 |
437 | R>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 440 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 442 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs776173488 CA1931396 |
446 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA348978373 rs1430603894 |
449 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA348978402 rs1461922305 |
452 | I>F | No |
ClinGen gnomAD |
|
|
rs1276917826 CA348978412 |
453 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1201165419 CA348978427 |
454 | A>S | No |
ClinGen TOPMed |
|
|
rs1201165419 CA348978423 |
454 | A>T | No |
ClinGen TOPMed |
|
|
rs769200448 CA1931418 |
454 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA1931419 rs777019496 |
456 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs185463710 CA1931420 |
458 | G>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs575260520 CA1931421 |
459 | T>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1156277746 CA348978506 |
459 | T>I | No |
ClinGen gnomAD |
|
|
rs545573563 CA1931422 |
460 | A>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs545573563 CA348978518 |
460 | A>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs545573563 CA348978517 |
460 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA348978530 rs1469984993 |
461 | A>V | No |
ClinGen gnomAD |
|
|
CA59599196 rs868666111 |
462 | H>N | No |
ClinGen Ensembl |
|
|
rs1342960553 CA348978539 |
462 | H>R | No |
ClinGen gnomAD |
|
|
CA59599202 COSM3837164 rs267598941 COSM3837165 COSM3837163 |
464 | E>K | breast Variant assessed as Somatic; 5.479e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA1931423 rs762676328 |
465 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs575906578 CA1931425 |
468 | H>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA348978624 rs759310135 |
468 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755119585 CA1931427 |
469 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA348978662 rs1324443116 |
470 | G>E | No |
ClinGen gnomAD |
|
|
rs1224694586 CA348978704 |
472 | S>R | No |
ClinGen TOPMed |
|
|
rs1205614100 CA348978735 |
474 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs757317128 CA1931429 |
474 | P>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 474 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM207519 COSM1590788 rs866130595 CA59599276 |
478 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA348979186 rs1302663372 |
483 | F>L | No |
ClinGen TOPMed |
|
|
rs1466683340 TCGA novel CA348979194 |
485 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen TOPMed |
|
CA348979201 rs1326549571 |
486 | L>V | No |
ClinGen gnomAD |
|
|
rs969330890 CA59601430 |
487 | I>T | No |
ClinGen TOPMed |
|
|
rs751763132 CA1931455 |
491 | K>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 492 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755321628 CA1931456 |
494 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs755321628 CA348979255 |
494 | A>T | No |
ClinGen ExAC gnomAD |
|
|
COSM717250 COSM1148344 CA1931457 COSM1647031 rs781388732 |
498 | W>C | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA348979291 rs1439205908 |
499 | S>G | No |
ClinGen TOPMed |
|
| TCGA novel | 500 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM1148345 rs1198476375 COSM717249 CA348979340 COSM1647030 |
502 | R>K | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA348979376 rs1472866885 |
505 | F>L | No |
ClinGen gnomAD |
|
|
rs1361069977 CA348979533 |
517 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA348979551 rs370855511 |
518 | C>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1282104575 CA348979555 |
519 | A>T | No |
ClinGen TOPMed |
|
|
CA1931462 rs201661706 |
519 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1018694709 CA59601492 |
521 | M>V | No |
ClinGen TOPMed |
|
| TCGA novel | 522 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1931466 rs775116534 |
524 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs556027373 CA1931467 |
525 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA348979659 rs1313617772 |
526 | T>M | No |
ClinGen gnomAD |
|
| TCGA novel | 526 | T>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 529 | G>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1483301442 CA348979713 |
531 | L>Q | No |
ClinGen gnomAD |
|
|
CA1931471 rs766392662 |
534 | A>E | No |
ClinGen ExAC gnomAD |
|
|
rs1207023538 CA348979749 |
534 | A>T | No |
ClinGen gnomAD |
|
|
CA59601581 rs751709773 |
538 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA1931473 rs759649791 |
538 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA1931472 rs751709773 |
538 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1931484 rs199634510 RCV000713341 |
546 | F>V | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA1931485 rs768472091 |
549 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1475256454 CA348980164 |
553 | I>V | No |
ClinGen Ensembl |
|
|
CA1931488 rs769810857 |
554 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1295149066 CA348980182 |
554 | A>V | No |
ClinGen gnomAD |
|
|
rs1002777223 CA59602150 |
559 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA348980254 rs1364108320 |
560 | G>R | No |
ClinGen gnomAD |
|
|
rs1559502936 CA348980293 |
563 | L>F | No |
ClinGen Ensembl |
|
|
CA1931489 rs774293851 |
571 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
CA1931490 rs759723964 |
572 | V>I | No |
ClinGen ExAC gnomAD |
|
|
COSM1590786 CA348980463 rs534495211 COSM1008300 |
577 | K>N | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes NCI-TCGA gnomAD |
| TCGA novel | 583 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA348980661 rs1396843663 |
587 | G>E | No |
ClinGen TOPMed |
|
|
CA1931511 rs775804216 |
587 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs777130386 CA1931514 |
597 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 604 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 605 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1931518 rs757799595 |
606 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348980845 rs1346008260 |
607 | I>T | No |
ClinGen gnomAD |
|
|
CA348980880 rs1276956226 |
613 | A>T | No |
ClinGen gnomAD |
|
|
rs1442274736 CA348980898 COSM145945 COSM1317072 |
615 | S>C | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1382525548 CA348980924 |
619 | Y>C | No |
ClinGen gnomAD |
|
|
CA348980921 rs1254655168 |
619 | Y>H | No |
ClinGen gnomAD |
|
|
CA59602937 rs370148354 |
622 | R>W | No |
ClinGen ESP gnomAD |
|
|
rs572184720 CA1931521 |
634 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA348981176 rs1422612562 |
640 | A>G | No |
ClinGen gnomAD |
|
|
CA1931525 rs777534270 |
649 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA59603016 rs891892148 |
650 | A>T | No |
ClinGen Ensembl |
|
|
rs749267898 CA1931526 |
650 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs766098551 CA1931528 |
653 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs747149436 CA1931530 |
655 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348981441 rs1277163349 |
655 | M>R | No |
ClinGen gnomAD |
|
|
CA1931529 rs747149436 |
655 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1340688247 CA348981451 |
656 | H>N | No |
ClinGen gnomAD |
|
|
CA348981463 rs1330413161 |
656 | H>Q | No |
ClinGen TOPMed |
|
|
CA348981458 rs1575573169 |
656 | H>R | No |
ClinGen Ensembl |
|
|
CA1931531 rs777005850 |
658 | D>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 660 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1931533 rs61732696 |
661 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs763486116 CA1931535 |
666 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773500702 CA1931534 |
666 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA1931556 rs371135427 |
668 | N>D | No |
ClinGen ESP ExAC gnomAD |
|
|
CA348978411 rs1386707191 |
669 | C>Y | No |
ClinGen gnomAD |
|
|
rs374697376 CA1931557 |
672 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1931559 rs752195039 |
673 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA1931560 rs199725063 |
675 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1931561 rs371522013 |
676 | S>N | No |
ClinGen ESP ExAC gnomAD |
|
|
CA348978505 rs1208796708 |
677 | N>I | No |
ClinGen gnomAD |
|
|
rs1484671365 CA348978515 |
678 | G>D | No |
ClinGen gnomAD |
|
|
CA348978531 rs1204367305 |
679 | T>I | No |
ClinGen gnomAD |
|
|
CA1931563 rs757130894 |
681 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs941456216 CA59603907 |
682 | E>A | No |
ClinGen TOPMed |
|
|
CA1931564 rs376393572 |
682 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs750415816 CA1931565 |
685 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA1931566 rs755059131 |
687 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA348978663 rs1303810068 |
688 | I>N | No |
ClinGen gnomAD |
|
|
rs781303491 CA1931567 |
688 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 692 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1931568 rs367992718 |
693 | I>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs367992718 CA348978741 |
693 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA59603959 rs900050569 |
694 | I>S | No |
ClinGen TOPMed |
|
| TCGA novel | 695 | W>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 697 | N>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA348978852 rs1458349611 |
698 | L>P | No |
ClinGen TOPMed |
|
|
rs1228514450 CA348978879 |
699 | T>I | No |
ClinGen gnomAD |
|
|
rs1435419738 CA348978905 |
701 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
CA1931590 rs369971543 |
706 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1931591 rs779213440 |
708 | G>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 708 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1931594 rs199675055 |
709 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1931592 rs555576128 |
709 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1931595 rs746460208 |
710 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs768080951 CA348979443 |
711 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs768080951 CA1931596 |
711 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA59606799 rs148092998 |
713 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs148092998 CA1931599 |
713 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1931598 rs567598753 |
713 | R>W | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs762856959 CA1931601 |
717 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1452768741 CA348979517 |
717 | H>Y | No |
ClinGen gnomAD |
|
|
rs1432170017 CA348979540 |
718 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA1931602 rs766275453 |
718 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs751485004 CA1931603 |
719 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1169042017 CA348979548 |
719 | H>Y | No |
ClinGen gnomAD |
|
|
COSM1400429 CA348979563 rs1164720538 COSM1400428 |
720 | P>S | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs1416549696 CA348979572 |
721 | Y>H | No |
ClinGen TOPMed |
|
|
rs760763613 CA1931604 |
722 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA59606820 rs1040079256 |
726 | L>Q | No |
ClinGen Ensembl |
|
| TCGA novel | 729 | S>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs753956303 CA1931606 |
731 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA1931607 rs753956303 |
731 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA1931609 rs779162070 |
733 | F>I | No |
ClinGen ExAC gnomAD |
|
|
CA1931608 rs779162070 |
733 | F>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 737 | V>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1264251736 CA348979773 |
737 | V>I | No |
ClinGen TOPMed |
|
|
rs758693082 CA1931610 |
738 | T>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 740 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA348979854 rs1306818511 |
742 | T>S | No |
ClinGen gnomAD |
|
|
COSM2150957 COSM2150956 rs770016661 COSM2150958 CA59606877 |
746 | F>L | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs780100872 CA1931614 |
748 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs545143437 CA1931617 |
749 | S>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1931616 rs545143437 |
749 | S>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 750 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA348979993 rs1248874380 |
750 | R>T | No |
ClinGen gnomAD |
|
|
rs747597084 CA1931632 |
756 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA1931633 rs769463278 |
757 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs777520871 CA1931634 |
759 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1006192017 CA59607740 |
759 | I>V | No |
ClinGen gnomAD |
|
|
rs1416319749 CA348981273 |
760 | V>M | No |
ClinGen gnomAD |
|
|
CA348981395 rs1559606347 |
766 | F>C | No |
ClinGen Ensembl |
|
|
rs1163548812 CA348981416 |
768 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA1931635 rs748874179 |
771 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348981479 rs1336754143 |
772 | M>I | No |
ClinGen TOPMed |
|
|
CA348981468 rs1238896846 |
772 | M>V | No |
ClinGen TOPMed |
|
|
CA1931637 rs770661028 |
775 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA1931636 rs770661028 |
775 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs771937357 CA348981575 |
779 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs997634997 CA59607791 |
779 | I>M | No |
ClinGen Ensembl |
|
|
rs1559606606 CA348981579 |
779 | I>T | No |
ClinGen Ensembl |
|
|
rs771937357 CA1931639 |
779 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA1931640 rs775408136 |
780 | G>E | No |
ClinGen ExAC |
|
|
rs267598943 CA59607795 |
782 | P>T | No |
ClinGen Ensembl |
|
|
CA1931643 rs201351567 RCV000516937 |
790 | S>G | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA59607802 rs967086666 |
791 | V>L | No |
ClinGen TOPMed |
|
| TCGA novel | 792 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA348981695 rs1237003487 |
795 | T>P | No |
ClinGen gnomAD |
|
|
rs1278572698 CA348981708 |
797 | D>H | No |
ClinGen gnomAD |
|
|
rs371575939 CA59608687 |
799 | R>H | No |
ClinGen ESP gnomAD |
|
|
CA1931661 rs75945400 |
802 | F>V | No |
ClinGen ExAC gnomAD |
|
|
rs1038017615 CA348981760 |
804 | T>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1038017615 CA59608694 |
804 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
CA348981757 rs1575806401 |
804 | T>S | No |
ClinGen Ensembl |
|
|
CA348981783 rs1231992823 |
808 | P>S | No |
ClinGen gnomAD |
|
|
CA348981812 rs1575806580 |
812 | W>G | No |
ClinGen Ensembl |
|
|
rs1575806620 CA348981828 |
814 | V>G | No |
ClinGen Ensembl |
|
|
rs955265697 CA59608703 |
814 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs763108576 CA1931665 |
816 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1434028625 CA348981870 |
821 | A>T | No |
ClinGen gnomAD |
|
|
rs774666561 CA1931667 |
823 | L>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 823 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 829 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs932651402 CA59608723 |
837 | V>D | No |
ClinGen TOPMed |
|
|
rs759933033 CA1931668 |
837 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1174744776 CA348981982 |
838 | I>V | No |
ClinGen TOPMed |
|
|
rs1301711506 CA348982005 |
841 | R>K | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 843 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 844 | H>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs988094537 CA59608729 |
845 | K>R | No |
ClinGen Ensembl |
|
| TCGA novel | 857 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1234504928 CA348982480 |
858 | M>V | No |
ClinGen TOPMed |
|
|
rs758094896 CA1931680 |
861 | V>L | No |
ClinGen ExAC gnomAD |
|
|
TCGA novel CA348982511 rs1227259523 |
862 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen gnomAD |
|
CA348982505 rs1575837159 |
862 | M>L | No |
ClinGen Ensembl |
|
|
CA348982520 rs1334988200 |
864 | G>S | No |
ClinGen gnomAD |
|
|
CA348982526 rs1234577392 |
865 | V>I | No |
ClinGen gnomAD |
|
|
CA348982527 rs1234577392 |
865 | V>L | No |
ClinGen gnomAD |
|
|
rs1575837348 CA348982541 |
867 | S>P | No |
ClinGen Ensembl |
|
|
rs1575837386 CA348982546 |
868 | I>L | No |
ClinGen Ensembl |
|
|
rs1205528954 CA348982551 |
868 | I>M | No |
ClinGen gnomAD |
|
|
rs369582743 CA59612380 |
868 | I>T | No |
ClinGen ESP |
|
|
rs1263514300 CA348982560 |
869 | M>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1290869648 CA348982552 |
869 | M>L | No |
ClinGen TOPMed |
|
|
CA348982557 rs1575837483 |
869 | M>R | No |
ClinGen Ensembl |
|
|
rs1575837528 CA348982566 |
870 | G>A | No |
ClinGen Ensembl |
|
|
rs1445215746 CA348982584 |
873 | W>* | No |
ClinGen gnomAD |
|
|
rs768523562 CA1931683 |
877 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA348982607 rs1192467142 |
877 | A>T | No |
ClinGen gnomAD |
|
|
CA1931684 rs781194498 |
878 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs749289079 CA1931685 |
883 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA348982676 rs1397490731 |
883 | T>S | No |
ClinGen TOPMed |
|
|
rs921995823 CA59612412 |
892 | S>T | No |
ClinGen gnomAD |
|
|
CA348982834 rs1383166604 |
894 | C>R | No |
ClinGen gnomAD |
|
|
CA348982867 rs1335514018 |
895 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA59612428 rs988040254 |
896 | A>S | No |
ClinGen Ensembl |
|
|
rs1475522275 CA348982894 |
897 | P>L | No |
ClinGen TOPMed |
|
|
rs543195068 CA1931691 |
902 | K>Q | No |
ClinGen 1000Genomes ExAC |
|
|
CA1931693 rs531982750 |
905 | G>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs761176181 CA1931694 |
907 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 913 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 913 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1043263245 CA59612466 |
914 | L>I | No |
ClinGen gnomAD |
|
| TCGA novel | 919 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1931697 rs758040108 |
921 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1559627732 CA348983939 |
938 | L>R | No |
ClinGen Ensembl |
|
|
rs1042287656 CA59613337 |
939 | Y>C | No |
ClinGen Ensembl |
|
|
rs1559627796 CA348983971 |
941 | V>M | No |
ClinGen Ensembl |
|
| TCGA novel | 943 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA348984006 rs1232276631 |
944 | Y>F | No |
ClinGen TOPMed |
|
|
rs762348408 CA1931711 |
945 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA348984030 rs1300027189 |
946 | G>S | No |
ClinGen gnomAD |
|
|
rs1370425233 CA348984046 |
947 | A>V | No |
ClinGen TOPMed |
|
|
rs1446564035 CA348984052 |
948 | S>P | No |
ClinGen gnomAD |
|
| TCGA novel | 950 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs372522554 CA1931723 |
956 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1283303387 CA348984319 |
958 | R>K | No |
ClinGen TOPMed |
|
|
CA348984326 rs1453021414 CA348984324 |
959 | I>L | No |
ClinGen gnomAD |
|
|
rs1215184645 CA348984329 |
959 | I>T | No |
ClinGen TOPMed |
|
|
rs1193367978 CA348984334 |
960 | K>T | No |
ClinGen gnomAD |
|
|
rs1420884778 CA348984346 |
962 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1430760379 CA348984360 |
963 | W>C | No |
ClinGen gnomAD |
|
| TCGA novel | 964 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA348984380 rs1464645799 |
966 | A>E | No |
ClinGen gnomAD |
|
|
rs141608873 CA1931725 |
966 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs990035795 CA59616660 |
971 | D>G | No |
ClinGen TOPMed |
|
|
rs763081846 CA59616664 |
973 | I>V | No |
ClinGen Ensembl |
|
| TCGA novel | 974 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1931727 rs747209025 |
974 | Y>H | No |
ClinGen ExAC |
|
|
rs376606282 CA59616668 |
977 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA348984525 rs1438490047 |
978 | V>I | No |
ClinGen gnomAD |
|
|
CA348984547 rs1324919673 |
979 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA1931730 rs748518515 |
981 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1931731 rs770277093 |
982 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA348984574 rs1420314237 |
984 | H>P | No |
ClinGen TOPMed |
|
|
rs1420314237 CA348984575 |
984 | H>R | No |
ClinGen TOPMed |
|
|
rs762401842 CA1931733 |
987 | T>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 990 | Q>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1931735 rs773893991 |
994 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA1931736 rs759225760 |
995 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA1931738 rs767136316 |
999 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs1367646507 CA348984679 |
999 | I>T | No |
ClinGen TOPMed |
|
|
rs767136316 CA1931737 |
999 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA348984710 rs1425214729 |
1004 | R>G | No |
ClinGen TOPMed |
|
|
CA348984716 rs1575880923 |
1004 | R>S | No |
ClinGen Ensembl |
|
| TCGA novel | 1005 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1487137813 CA348984730 |
1007 | I>V | No |
ClinGen gnomAD |
|
|
rs764080216 CA1931740 |
1011 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA348984813 rs1375759363 |
1015 | A>T | No |
ClinGen gnomAD |
|
|
rs1349241951 CA348985029 |
1026 | L>* | No |
ClinGen gnomAD |
|
| rs778147754 | 1026 | L>missing | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1213730217 CA348985062 |
1028 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA348985089 rs1208782347 |
1030 | R>Q | No |
ClinGen gnomAD |
|
|
rs781426592 CA1931765 |
1030 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1233137183 CA348985109 |
1031 | E>D | No |
ClinGen gnomAD |
|
|
CA348985208 rs1470932753 |
1037 | D>Y | No |
ClinGen gnomAD |
|
|
rs756370402 CA1931767 |
1039 | M>T | No |
ClinGen ExAC |
|
|
CA348985246 rs1452909370 |
1039 | M>V | No |
ClinGen gnomAD |
|
|
rs1254693801 COSM1590875 COSM1008320 CA348985288 |
1041 | E>K | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs1373530788 CA348985385 |
1044 | K>I | No |
ClinGen gnomAD |
|
|
CA59617328 rs768286292 |
1047 | L>M | No |
ClinGen Ensembl |
|
|
rs1329575832 CA348985534 |
1053 | E>K | No |
ClinGen gnomAD |
|
|
CA348986114 rs1419729826 |
1054 | E>G | No |
ClinGen TOPMed |
|
|
rs12991239 CA59621586 |
1055 | E>* | No |
ClinGen Ensembl |
|
|
CA1931787 RCV000518166 rs142943771 |
1056 | Q>E | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs779430605 CA1931788 |
1056 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA348986142 rs1193887507 |
1057 | S>R | No |
ClinGen gnomAD |
|
|
rs1474491390 CA348986157 |
1058 | M>V | No |
ClinGen gnomAD |
|
|
CA1931790 rs539417260 |
1059 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1233292118 CA348986186 |
1060 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
CA348986181 rs1463159646 |
1060 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1463159646 CA348986178 |
1060 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
RCV000518753 rs779428686 CA1931791 |
1061 | M>I | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA348986189 rs1477639207 |
1061 | M>V | No |
ClinGen gnomAD |
|
|
CA1931792 rs574637617 |
1062 | E>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs199904335 CA59621602 |
1064 | E>D | No |
ClinGen Ensembl |
|
|
rs368433654 CA1931793 |
1064 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1931794 rs776429077 |
1065 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769688923 CA1931796 |
1068 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
CA348986276 rs1355709918 |
1069 | L>I | No |
ClinGen gnomAD |
|
|
rs773098267 CA1931797 |
1070 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
| TCGA novel | 1070 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1308315817 CA348986350 |
1075 | Y>C | No |
ClinGen TOPMed |
|
|
rs201485344 CA1931800 |
1075 | Y>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA348986360 rs182913811 |
1076 | R>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1931801 rs182913811 |
1076 | R>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs764141107 CA348986410 |
1077 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764141107 CA1931820 |
1077 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348986426 rs1184443597 |
1078 | D>E | No |
ClinGen gnomAD |
|
|
rs776736280 CA1931821 |
1080 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA1931822 rs762021266 |
1081 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1377767755 CA348986545 |
1087 | E>V | No |
ClinGen gnomAD |
|
|
CA1931823 rs765555878 |
1088 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA348986552 rs1575967475 |
1088 | M>L | No |
ClinGen Ensembl |
|
|
rs375704779 CA1931824 |
1089 | S>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA348986603 rs1391546956 |
1091 | T>N | No |
ClinGen gnomAD |
|
|
rs752130013 CA59622672 |
1092 | A>D | No |
ClinGen gnomAD |
|
|
rs766757048 CA1931826 |
1092 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1008322 CA348986623 rs1239128781 COSM1153505 |
1093 | L>S | endometrium [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA1931828 rs755581680 |
1094 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs1559672560 CA348986630 |
1094 | W>R | No |
ClinGen Ensembl |
|
|
rs945358446 CA59622697 |
1095 | R>G | No |
ClinGen gnomAD |
|
|
CA348986693 rs747717169 |
1096 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780845109 CA1931829 |
1096 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA1931831 rs763424422 |
1097 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348986712 rs1236558772 |
1098 | L>V | No |
ClinGen gnomAD |
|
|
rs1457632780 CA348986733 |
1100 | T>P | No |
ClinGen gnomAD |
|
|
CA348986740 rs1575968065 |
1100 | T>S | No |
ClinGen Ensembl |
|
|
CA1931832 rs777483594 |
1101 | A>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1101 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA348986760 COSM3391037 COSM3391039 COSM3391038 rs1393751149 |
1102 | D>N | pancreas skin [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs1376645949 CA348986801 |
1105 | K>E | No |
ClinGen gnomAD |
|
|
CA1931835 rs774176000 |
1105 | K>R | No |
ClinGen ExAC gnomAD |
|
|
COSM126270 CA348986822 rs1299573953 |
1106 | D>N | upper_aerodigestive_tract Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1397631787 CA348986843 |
1107 | K>E | No |
ClinGen gnomAD |
|
|
rs745777704 CA1931837 |
1107 | K>M | No |
ClinGen ExAC gnomAD |
|
|
rs745777704 CA1931836 |
1107 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA1931838 rs776681349 |
1108 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348986896 rs1384937691 |
1110 | S>G | No |
ClinGen gnomAD |
|
|
CA59622762 rs1051999705 |
1110 | S>N | No |
ClinGen TOPMed |
|
|
CA348986917 rs1300497563 |
1111 | F>L | No |
ClinGen gnomAD |
|
|
rs376785780 CA59622767 |
1113 | S>Y | No |
ClinGen Ensembl |
|
|
COSM717238 rs1308079048 COSM1647097 COSM1148356 CA348987150 |
1116 | S>F | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1276352355 CA537103025 |
1119 | S>Y | No |
ClinGen TOPMed gnomAD |
No associated diseases with Q6U841
8 regional properties for Q6U841
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| repeat | WD40 repeat | 436 - 517 | IPR001680-1 |
| repeat | WD40 repeat | 561 - 603 | IPR001680-2 |
| repeat | WD40 repeat | 606 - 644 | IPR001680-3 |
| repeat | WD40 repeat | 647 - 686 | IPR001680-4 |
| repeat | WD40 repeat | 690 - 729 | IPR001680-5 |
| repeat | WD40 repeat | 741 - 784 | IPR001680-6 |
| domain | BOP1, N-terminal domain | 171 - 436 | IPR012953 |
| conserved_site | WD40 repeat, conserved site | 462 - 476 | IPR019775 |
Functions
15 GO annotations of cellular component
| Name | Definition |
|---|---|
| anchoring junction | A cell junction that mechanically attaches a cell (and its cytoskeleton) to neighboring cells or to the extracellular matrix. |
| apical dendrite | A dendrite that emerges near the apical pole of a neuron. In bipolar neurons, apical dendrites are located on the opposite side of the soma from the axon. |
| apical plasma membrane | The region of the plasma membrane located at the apical end of the cell. |
| axon terminus | Terminal inflated portion of the axon, containing the specialized apparatus necessary to release neurotransmitters. The axon terminus is considered to be the whole region of thickening and the terminal button is a specialized region of it. |
| basal dendrite | A dendrite that emerges near the basal pole of a neuron. In bipolar neurons, basal dendrites are either on the same side of the soma as the axon, or project toward the axon. |
| 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. |
| CA3 pyramidal cell dendrite | A dendrite of a hippocampal CA3 pyramidal cell. |
| dendrite | A neuron projection that has a short, tapering, morphology. Dendrites receive and integrate signals from other neurons or from sensory stimuli, and conduct nerve impulses towards the axon or the cell body. In most neurons, the impulse is conveyed from dendrites to axon via the cell body, but in some types of unipolar neuron, the impulse does not travel via the cell body. |
| 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. |
| neuronal cell body | The portion of a neuron that includes the nucleus, but excludes cell projections such as axons and dendrites. |
| perikaryon | The portion of the cell soma (neuronal cell body) that excludes the nucleus. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| postsynapse | The part of a synapse that is part of the post-synaptic cell. |
| somatodendritic compartment | The region of a neuron that includes the cell body (cell soma) and dendrite(s), but excludes the axon. |
| synapse | The junction between an axon of one neuron and a dendrite of another neuron, a muscle fiber or a glial cell. As the axon approaches the synapse it enlarges into a specialized structure, the presynaptic terminal bouton, which contains mitochondria and synaptic vesicles. At the tip of the terminal bouton is the presynaptic membrane; facing it, and separated from it by a minute cleft (the synaptic cleft) is a specialized area of membrane on the receiving cell, known as the postsynaptic membrane. In response to the arrival of nerve impulses, the presynaptic terminal bouton secretes molecules of neurotransmitters into the synaptic cleft. These diffuse across the cleft and transmit the signal to the postsynaptic membrane. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| sodium:bicarbonate symporter activity | Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: Na+(out) + HCO3-(out) = Na+(in) + HCO3-(in). |
| solute:inorganic anion antiporter activity | Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: inorganic anion(out) + solute(in) = inorganic anion (in) + solute(out). |
| transmembrane transporter activity | Enables the transfer of a substance, usually a specific substance or a group of related substances, from one side of a membrane to the other. |
14 GO annotations of biological process
| Name | Definition |
|---|---|
| bicarbonate transport | The directed movement of bicarbonate into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| brain morphogenesis | The process in which the anatomical structures of the brain are generated and organized. The brain is one of the two components of the central nervous system and is the center of thought and emotion. It is responsible for the coordination and control of bodily activities and the interpretation of information from the senses (sight, hearing, smell, etc.). |
| chloride transport | The directed movement of chloride into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| ion homeostasis | Any process involved in the maintenance of an internal steady state of ions within an organism or cell. |
| locomotory exploration behavior | The specific movement from place to place of an organism in response to a novel environment. |
| multicellular organism growth | The increase in size or mass of an entire multicellular organism, as opposed to cell growth. |
| post-embryonic development | The process whose specific outcome is the progression of the organism over time, from the completion of embryonic development to the mature structure. See embryonic development. |
| proton transmembrane transport | The directed movement of a proton across a membrane. |
| pyramidal neuron development | The progression of a pyramidal neuron from its initial formation to its mature state. |
| regulation of intracellular pH | Any process that modulates the internal pH of a cell, measured by the concentration of the hydrogen ion. |
| regulation of short-term neuronal synaptic plasticity | A process that modulates short-term neuronal synaptic plasticity, the ability of neuronal synapses to change in the short-term as circumstances require. Short-term neuronal synaptic plasticity generally involves increasing or decreasing synaptic sensitivity. |
| response to light stimulus | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a light stimulus, electromagnetic radiation of wavelengths classified as infrared, visible or ultraviolet light. |
| transmembrane transport | The process in which a solute is transported across a lipid bilayer, from one side of a membrane to the other. |
| visual perception | The series of events required for an organism to receive a visual stimulus, convert it to a molecular signal, and recognize and characterize the signal. Visual stimuli are detected in the form of photons and are processed to form an image. |
24 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q9GL77 | SLC4A4 | Electrogenic sodium bicarbonate cotransporter 1 | Bos taurus (Bovine) | PR |
| Q32LP4 | SLC4A10 | Sodium-driven chloride bicarbonate exchanger | Bos taurus (Bovine) | PR |
| Q8NBS3 | SLC4A11 | Solute carrier family 4 member 11 | Homo sapiens (Human) | PR |
| Q9Y6R1 | SLC4A4 | Electrogenic sodium bicarbonate cotransporter 1 | Homo sapiens (Human) | PR |
| Q9Y6M7 | SLC4A7 | Sodium bicarbonate cotransporter 3 | Homo sapiens (Human) | PR |
| Q2Y0W8 | SLC4A8 | Electroneutral sodium bicarbonate exchanger 1 | Homo sapiens (Human) | PR |
| P02730 | SLC4A1 | Band 3 anion transport protein | Homo sapiens (Human) | PR |
| P04920 | SLC4A2 | Anion exchange protein 2 | Homo sapiens (Human) | PR |
| P04919 | Slc4a1 | Band 3 anion transport protein | Mus musculus (Mouse) | PR |
| Q8JZR6 | Slc4a8 | Electroneutral sodium bicarbonate exchanger 1 | Mus musculus (Mouse) | PR |
| Q8BTY2 | Slc4a7 | Sodium bicarbonate cotransporter 3 | Mus musculus (Mouse) | PR |
| P13808 | Slc4a2 | Anion exchange protein 2 | Mus musculus (Mouse) | PR |
| A2AJN7 | Slc4a11 | Solute carrier family 4 member 11 | Mus musculus (Mouse) | PR |
| P16283 | Slc4a3 | Anion exchange protein 3 | Mus musculus (Mouse) | PR |
| O88343 | Slc4a4 | Electrogenic sodium bicarbonate cotransporter 1 | Mus musculus (Mouse) | PR |
| Q5DTL9 | Slc4a10 | Sodium-driven chloride bicarbonate exchanger | Mus musculus (Mouse) | PR |
| Q4U116 | SLC4A4 | Electrogenic sodium bicarbonate cotransporter 1 | Sus scrofa (Pig) | PR |
| Q9JI66 | Slc4a4 | Electrogenic sodium bicarbonate cotransporter 1 | Rattus norvegicus (Rat) | PR |
| Q9R1N3 | Slc4a7 | Sodium bicarbonate cotransporter 3 | Rattus norvegicus (Rat) | PR |
| Q80ZA5 | Slc4a10 | Sodium-driven chloride bicarbonate exchanger | Rattus norvegicus (Rat) | PR |
| Q3E954 | BOR6 | Probable boron transporter 6 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9M1P7 | BOR2 | Probable boron transporter 2 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9SUU1 | BOR7 | Probable boron transporter 7 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q8VYR7 | BOR1 | Boron transporter 1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MEIKDQGAQM | EPLLPTRNDE | EAVVDRGGTR | SILKTHFEKE | DLEGHRTLFI | GVHVPLGGRK |
| 70 | 80 | 90 | 100 | 110 | 120 |
| SHRRHRHRGH | KHRKRDRERD | SGLEDGRESP | SFDTPSQRVQ | FILGTEDDDE | EHIPHDLFTE |
| 130 | 140 | 150 | 160 | 170 | 180 |
| LDEICWREGE | DAEWRETARW | LKFEEDVEDG | GERWSKPYVA | TLSLHSLFEL | RSCILNGTVL |
| 190 | 200 | 210 | 220 | 230 | 240 |
| LDMHANTLEE | IADMVLDQQV | SSGQLNEDVR | HRVHEALMKQ | HHHQNQKKLT | NRIPIVRSFA |
| 250 | 260 | 270 | 280 | 290 | 300 |
| DIGKKQSEPN | SMDKNAGQVV | SPQSAPACVE | NKNDVSRENS | TVDFSKGLGG | QQKGHTSPCG |
| 310 | 320 | 330 | 340 | 350 | 360 |
| MKQRHEKGPP | HQQEREVDLH | FMKKIPPGAE | ASNILVGELE | FLDRTVVAFV | RLSPAVLLQG |
| 370 | 380 | 390 | 400 | 410 | 420 |
| LAEVPIPTRF | LFILLGPLGK | GQQYHEIGRS | IATLMTDEVF | HDVAYKAKDR | NDLVSGIDEF |
| 430 | 440 | 450 | 460 | 470 | 480 |
| LDQVTVLPPG | EWDPSIRIEP | PKNVPSQEKR | KIPAVPNGTA | AHGEAEPHGG | HSGPELQRTG |
| 490 | 500 | 510 | 520 | 530 | 540 |
| RIFGGLILDI | KRKAPYFWSD | FRDAFSLQCL | ASFLFLYCAC | MSPVITFGGL | LGEATEGRIS |
| 550 | 560 | 570 | 580 | 590 | 600 |
| AIESLFGASM | TGIAYSLFGG | QPLTILGSTG | PVLVFEKILF | KFCKEYGLSY | LSLRASIGLW |
| 610 | 620 | 630 | 640 | 650 | 660 |
| TATLCIILVA | TDASSLVCYI | TRFTEEAFAS | LICIIFIYEA | LEKLFELSEA | YPINMHNDLE |
| 670 | 680 | 690 | 700 | 710 | 720 |
| LLTQYSCNCV | EPHNPSNGTL | KEWRESNISA | SDIIWENLTV | SECKSLHGEY | VGRACGHDHP |
| 730 | 740 | 750 | 760 | 770 | 780 |
| YVPDVLFWSV | ILFFSTVTLS | ATLKQFKTSR | YFPTKVRSIV | SDFAVFLTIL | CMVLIDYAIG |
| 790 | 800 | 810 | 820 | 830 | 840 |
| IPSPKLQVPS | VFKPTRDDRG | WFVTPLGPNP | WWTVIAAIIP | ALLCTILIFM | DQQITAVIIN |
| 850 | 860 | 870 | 880 | 890 | 900 |
| RKEHKLKKGC | GYHLDLLMVA | VMLGVCSIMG | LPWFVAATVL | SITHVNSLKL | ESECSAPGEQ |
| 910 | 920 | 930 | 940 | 950 | 960 |
| PKFLGIREQR | VTGLMIFILM | GSSVFMTSIL | KFIPMPVLYG | VFLYMGASSL | KGIQFFDRIK |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| LFWMPAKHQP | DFIYLRHVPL | RKVHLFTIIQ | MSCLGLLWII | KVSRAAIVFP | MMVLALVFVR |
| 1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
| KLMDLLFTKR | ELSWLDDLMP | ESKKKKLEDA | EKEEEQSMLA | MEDEGTVQLP | LEGHYRDDPS |
| 1090 | 1100 | 1110 | |||
| VINISDEMSK | TALWRNLLIT | ADNSKDKESS | FPSKSSPS |