Q8IWA5
PR
Gene name |
SLC44A2 (CTL2, PSEC0210) |
Protein name |
Choline transporter-like protein 2 |
Names |
Solute carrier family 44 member 2 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:57153 |
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 Q8IWA5
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q8IWA5-F1 | Predicted | AlphaFoldDB |
559 variants for Q8IWA5
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs766735149 CA9198167 |
2 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374362783 CA404010826 |
2 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374362783 CA9198166 |
2 | G>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA404010889 rs1441712208 |
4 | E>G | No |
ClinGen TOPMed |
|
|
CA305234984 rs983439002 |
4 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1204977068 CA404010924 |
5 | R>Q | No |
ClinGen TOPMed |
|
|
rs1417098127 CA404010915 |
5 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1254201175 CA404010990 |
7 | H>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1226156492 CA404011107 |
10 | G>E | No |
ClinGen TOPMed |
|
|
CA9198169 rs201831788 CA404011211 |
13 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM180674 rs763675490 CA404011447 |
14 | T>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA9198182 rs763675490 |
14 | T>R | No |
ClinGen ExAC gnomAD |
|
|
rs1371695918 CA404011509 |
16 | Q>L | No |
ClinGen TOPMed gnomAD |
|
|
CA9198183 rs768355723 |
20 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs761524816 CA9198184 |
21 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA404011678 rs1234440283 |
21 | T>I | No |
ClinGen gnomAD |
|
|
CA404011814 rs1276765715 |
24 | G>A | No |
ClinGen gnomAD |
|
|
COSM3712722 CA9198187 rs755270940 |
28 | N>K | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs762619529 CA9198206 |
30 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404013578 rs1217990112 |
31 | C>F | No |
ClinGen TOPMed |
|
|
rs753124039 CA9198208 |
32 | T>M | No |
ClinGen ExAC gnomAD |
|
|
CA404013597 rs753124039 |
32 | T>R | No |
ClinGen ExAC gnomAD |
|
|
CA404013627 rs1230124666 |
33 | D>E | No |
ClinGen TOPMed |
|
|
CA9198210 rs199988453 |
33 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1490332026 CA404013605 |
33 | D>N | No |
ClinGen TOPMed |
|
|
CA9198211 rs754372516 |
34 | I>S | No |
ClinGen ExAC gnomAD |
|
|
CA404013638 rs1461259948 |
34 | I>V | No |
ClinGen gnomAD |
|
|
rs1380587806 CA404013705 |
35 | I>M | No |
ClinGen gnomAD |
|
|
rs145954566 CA9198212 |
35 | I>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs750651094 CA9198214 |
39 | F>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404013917 rs1332339359 |
41 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA305236027 rs1022519396 |
45 | V>A | No |
ClinGen gnomAD |
|
|
CA9198216 rs779992345 |
47 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768511828 CA9198218 |
48 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9198217 rs746859449 |
48 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404014223 rs1416338289 |
51 | G>C | No |
ClinGen gnomAD |
|
|
CA305236046 rs978233133 |
53 | I>T | No |
ClinGen gnomAD |
|
|
CA9198235 rs754691833 |
54 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA305236049 rs1003415550 |
54 | A>P | No |
ClinGen TOPMed |
|
|
rs1378431805 CA404014563 |
56 | T>I | No |
ClinGen gnomAD |
|
|
rs1467645628 CA404014597 |
57 | H>L | No |
ClinGen gnomAD |
|
|
rs1308582393 CA404014689 |
60 | P>L | No |
ClinGen gnomAD |
|
|
CA9198238 rs769814820 |
60 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA9198239 rs777247984 |
61 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777247984 CA404014690 |
61 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9198240 rs370647260 |
61 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs919817886 CA305236158 |
63 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA9198242 rs773951328 |
64 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs143126713 CA404014824 |
64 | I>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA404014836 rs143126713 |
64 | I>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9198243 rs143126713 |
64 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs773951328 CA305236165 |
64 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404014983 CA9198246 rs3087969 |
68 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9198248 rs773870276 |
70 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9198247 rs200290054 |
70 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1177061824 CA404015082 |
71 | G>D | No |
ClinGen gnomAD |
|
|
CA404015064 rs1479825587 |
71 | G>S | No |
ClinGen gnomAD |
|
|
rs370967005 COSM1711814 CA9198249 |
72 | E>K | skin [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA404015210 rs1394515741 |
75 | G>A | No |
ClinGen gnomAD |
|
|
rs751786145 CA9198251 |
75 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404015241 rs1266394023 |
77 | K>R | No |
ClinGen Ensembl |
|
|
CA404015388 rs142740069 |
81 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs150981195 CA9198253 |
82 | E>K | No |
ClinGen ESP ExAC gnomAD |
|
|
CA9198273 rs774533587 |
83 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1314096757 CA404017742 |
83 | N>K | No |
ClinGen gnomAD |
|
| TCGA novel | 85 | P>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
TCGA novel rs759678017 CA9198274 |
86 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC gnomAD NCI-TCGA |
|
CA404017894 rs1212281228 |
91 | N>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1394367548 CA404017914 |
92 | I>T | No |
ClinGen TOPMed |
|
|
CA404017919 rs1272768607 |
93 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs767716475 CA9198275 |
94 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA9198276 rs752863591 |
96 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs11544830 CA9198278 |
98 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA305238376 rs11544830 |
98 | P>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9198279 rs753751620 |
100 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA9198280 rs757224537 |
103 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA404018209 rs1162604454 |
106 | C>* | No |
ClinGen gnomAD |
|
|
CA9198281 rs778389228 |
106 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745441708 CA9198282 |
108 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA305238401 rs757860968 |
109 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1711815 CA9198283 rs757860968 |
109 | P>L | skin [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs200300263 CA305238396 |
109 | P>T | No |
ClinGen Ensembl |
|
|
rs570912877 CA9198306 |
111 | I>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs140808248 CA9198308 |
113 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9198309 rs140808248 |
113 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA404018493 rs1469344909 |
116 | C>* | No |
ClinGen gnomAD |
|
|
rs772163270 CA9198310 |
116 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA404018498 rs1173908719 |
117 | P>S | No |
ClinGen gnomAD |
|
|
CA9198313 rs768934304 |
119 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA9198314 rs776843143 COSM180676 |
119 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA404018530 rs1568450149 |
120 | Y>H | No |
ClinGen Ensembl |
|
|
rs138368308 CA9198315 |
121 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs764962192 CA9198316 |
121 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA9198317 rs374925984 |
122 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9198319 rs765887508 |
123 | Y>C | No |
ClinGen ExAC |
|
|
rs751168758 CA9198320 |
127 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754669678 CA9198321 |
127 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9198322 rs780939206 |
130 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs780939206 CA9198323 |
130 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1197300849 CA404018758 |
130 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA9198324 rs757605844 |
131 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs746365243 CA9198326 |
134 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1254495607 CA404018878 |
134 | Y>H | No |
ClinGen gnomAD |
|
|
rs1374122614 CA404018919 |
135 | Y>C | No |
ClinGen gnomAD |
|
|
rs1192528269 CA404018912 |
135 | Y>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs758888463 CA305238533 |
136 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA305238540 rs1033229243 |
137 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs780178159 CA9198328 |
137 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404018989 rs1396165506 |
138 | F>L | No |
ClinGen gnomAD |
|
|
rs1328096326 CA404019034 |
140 | V>I | No |
ClinGen gnomAD |
|
|
rs267605277 CA305238544 |
141 | P>S | No |
ClinGen Ensembl |
|
|
CA404019056 rs1483714290 |
142 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1251928133 CA404019066 |
142 | G>V | No |
ClinGen TOPMed |
|
|
rs776783598 CA9198331 |
144 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1440369405 CA404019140 |
146 | N>D | No |
ClinGen TOPMed |
|
|
CA9198348 rs781288207 |
148 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs755009235 CA9198347 |
148 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1486524041 CA404019290 |
151 | E>G | No |
ClinGen gnomAD |
|
|
CA9198349 rs748376597 |
151 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA404019295 rs1263070458 |
152 | V>G | No |
ClinGen gnomAD |
|
|
rs769965009 CA9198350 |
152 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA9198351 rs147820753 |
153 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9198352 rs748964300 |
154 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs748964300 CA9198353 |
154 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs2288904 CA404019315 |
154 | Q>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs2288904 VAR_023404 CA9198354 |
154 | Q>R | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1475090752 CA404019344 |
156 | G>A | No |
ClinGen gnomAD |
|
|
rs373481388 CA9198355 |
157 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1054210036 CA305238627 |
157 | D>Y | No |
ClinGen TOPMed |
|
|
rs1456680051 CA404019401 |
165 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA9198358 rs377482215 |
167 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9198373 rs745789435 |
168 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs962833193 CA305238703 |
168 | L>S | No |
ClinGen TOPMed |
|
|
CA404019441 rs1312169458 |
169 | A>V | No |
ClinGen gnomAD |
|
|
CA9198374 rs377075783 |
170 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA305238713 rs971446075 |
170 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA404019455 rs1198189806 |
172 | C>Y | No |
ClinGen gnomAD |
|
|
CA404019465 rs1253872880 |
173 | F>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1253872880 CA404019464 |
173 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
rs760046078 CA305238725 |
175 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760046078 CA9198376 |
175 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9198377 rs768234084 |
176 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs768234084 CA404019479 |
176 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs577326622 CA9198381 |
178 | A>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9198379 rs149430874 |
178 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs577326622 CA9198380 |
178 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA404019505 rs1330257805 |
180 | K>Q | No |
ClinGen gnomAD |
|
|
CA9198383 rs767942361 |
182 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs760028444 CA9198382 |
182 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA404019544 rs1292804450 |
186 | G>D | No |
ClinGen TOPMed |
|
| TCGA novel | 187 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA404019572 rs1298396510 |
189 | T>M | No |
ClinGen gnomAD |
|
|
CA305238754 rs955964179 |
191 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1274028032 CA404019607 |
192 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs757613456 CA9198388 |
194 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs778848388 CA9198389 |
195 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA305238774 rs1006158294 |
197 | S>F | No |
ClinGen Ensembl |
|
|
rs779807584 CA9198392 |
198 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA305238778 rs370188486 |
198 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1169756075 CA404019748 |
199 | K>N | No |
ClinGen gnomAD |
|
| TCGA novel | 200 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs200958259 CA9198394 CA305238786 |
203 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs761440190 CA9198396 |
206 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs772852528 CA9198398 |
208 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs772852528 CA404019895 |
208 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA404020210 rs1464855791 |
212 | N>S | No |
ClinGen TOPMed |
|
|
rs1213409014 CA404020235 |
213 | G>E | No |
ClinGen gnomAD |
|
|
rs747342512 CA9198436 |
213 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs55731129 CA305238888 |
215 | L>I | No |
ClinGen Ensembl |
|
|
rs1177710894 CA404020308 |
216 | E>G | No |
ClinGen TOPMed |
|
|
CA9198437 rs768927085 |
216 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA305238896 rs889184401 |
217 | A>S | No |
ClinGen gnomAD |
|
|
rs188705216 CA9198438 |
217 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA9198441 rs773481815 |
218 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9198440 rs769971868 |
218 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404020418 rs766553222 |
221 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9198443 rs766553222 |
221 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751740936 CA9198444 |
221 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs759322106 CA9198445 |
222 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA9198446 rs547104429 |
223 | R>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs752612876 CA9198447 |
223 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA9198448 rs756106602 |
224 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs777262436 CA9198449 |
227 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 227 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs753281442 CA9198450 |
228 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs1207993110 CA404020623 |
229 | T>I | No |
ClinGen TOPMed |
|
|
CA9198455 rs781723278 |
230 | V>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9198454 rs141928916 |
230 | V>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs141928916 CA9198452 |
230 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs141928916 CA9198453 |
230 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9198457 rs770487964 |
234 | W>C | No |
ClinGen ExAC gnomAD |
|
|
rs1329453535 CA404020830 |
237 | I>T | No |
ClinGen gnomAD |
|
|
CA9198459 rs773858163 |
237 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1383289048 CA404021011 |
238 | G>V | No |
ClinGen TOPMed |
|
|
CA404021036 rs1568451019 |
239 | L>R | No |
ClinGen Ensembl |
|
|
CA305239049 rs114324572 |
240 | V>A | No |
ClinGen 1000Genomes gnomAD |
|
|
rs945029791 CA305239053 |
244 | A>S | No |
ClinGen Ensembl |
|
|
CA9198487 rs199914042 CA9198488 |
245 | M>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs766071200 CA9198492 |
250 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9198494 rs756502072 |
251 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404021347 rs1168272292 |
251 | I>V | No |
ClinGen TOPMed |
|
|
rs1355261894 CA404021426 |
254 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
COSM990654 rs749777162 CA9198496 |
254 | R>H | large_intestine endometrium Variant assessed as Somatic; 4.619e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs779481509 CA9198498 |
256 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9198499 rs371866409 |
258 | G>A | No |
ClinGen ESP ExAC TOPMed |
|
|
CA404021516 rs1184009353 |
259 | I>V | No |
ClinGen gnomAD |
|
|
rs1182828269 CA404021553 |
260 | M>I | No |
ClinGen gnomAD |
|
|
rs1423424047 CA404021543 |
260 | M>T | No |
ClinGen gnomAD |
|
|
rs1254298388 CA404021537 |
260 | M>V | No |
ClinGen gnomAD |
|
|
rs772164609 CA9198500 |
262 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs375554750 CA305239104 |
263 | V>M | No |
ClinGen ESP TOPMed |
|
|
rs1156771149 CA404021673 |
264 | M>I | No |
ClinGen gnomAD |
|
|
rs1417943025 CA404021646 |
264 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1030583663 CA305239109 |
266 | I>N | No |
ClinGen TOPMed |
|
|
CA9198501 rs775651328 |
266 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA404021853 rs1304415662 |
270 | L>P | No |
ClinGen gnomAD |
|
|
CA305239113 rs1038240829 |
271 | V>M | No |
ClinGen gnomAD |
|
|
rs776349046 CA9198504 |
275 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA305240190 rs909462510 |
281 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1220044736 CA404023318 |
283 | Y>N | No |
ClinGen TOPMed |
|
|
CA9198531 rs767021990 |
285 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA9198532 rs369805313 |
285 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs938209803 CA305240200 |
286 | L>M | No |
ClinGen TOPMed |
|
|
CA9198534 rs200371616 |
287 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
COSM990656 CA9198535 rs750908680 |
287 | R>H | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA305240208 rs139061261 |
289 | E>K | No |
ClinGen ESP |
|
|
CA9198536 rs758963442 |
290 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1292276334 CA404023356 |
290 | A>T | No |
ClinGen gnomAD |
|
|
CA9198537 rs758963442 |
290 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201334199 CA9198539 |
291 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs902543104 CA305240217 |
292 | S>A | No |
ClinGen TOPMed |
|
|
CA305240225 rs760446259 |
298 | D>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1052859979 CA305240227 |
299 | L>P | No |
ClinGen Ensembl |
|
|
CA9198544 rs769440423 |
300 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs1244876720 CA404023426 |
300 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA305240236 rs373081626 |
301 | F>L | No |
ClinGen Ensembl |
|
|
rs149933893 CA9198547 |
303 | T>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9198546 rs149933893 |
303 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs868013997 CA305240244 |
304 | D>N | No |
ClinGen Ensembl |
|
| TCGA novel | 305 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs148696491 CA9198551 |
306 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9198550 rs771646513 |
306 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760425157 CA9198552 |
307 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA404023470 rs1162137584 |
307 | V>L | No |
ClinGen gnomAD |
|
|
CA404023477 rs1300606308 COSM180679 |
308 | Y>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA9198555 rs529075008 |
310 | H>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9198554 rs750855658 |
310 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs766811790 CA9198557 |
312 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA305240263 rs370138418 |
312 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9198558 rs370138418 |
312 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs766811790 CA9198556 |
312 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404023501 rs781369225 |
313 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA9198559 rs781369225 |
313 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA9198560 rs372851588 |
313 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA305240270 rs1027681501 |
314 | T>N | No |
ClinGen Ensembl |
|
|
rs1329322993 CA404023519 |
315 | W>C | No |
ClinGen TOPMed |
|
|
rs1599253676 CA404023521 |
316 | L>V | No |
ClinGen Ensembl |
|
|
CA9198583 rs754148624 |
320 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA305240315 rs918098128 |
321 | I>N | No |
ClinGen TOPMed gnomAD |
|
|
CA9198585 rs778901409 |
322 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs376045718 CA9198586 |
323 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9198587 rs758430158 |
323 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404023587 rs1449062073 |
324 | I>N | No |
ClinGen TOPMed |
|
|
CA404023585 rs1307790314 |
324 | I>V | No |
ClinGen TOPMed |
|
|
rs746467496 CA9198589 |
325 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA404023625 rs1376282972 |
330 | I>V | No |
ClinGen gnomAD |
|
|
rs1238173249 CA404023657 |
335 | F>L | No |
ClinGen gnomAD |
|
|
rs768175708 CA9198590 |
337 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs376093595 CA305240318 |
337 | R>W | No |
ClinGen ESP TOPMed |
|
|
CA404023685 rs1446027142 |
339 | R>I | No |
ClinGen TOPMed |
|
|
CA404023690 rs1217323835 |
340 | I>F | No |
ClinGen gnomAD |
|
|
CA9198591 rs776225036 |
340 | I>S | No |
ClinGen ExAC gnomAD |
|
|
CA404023695 rs1361127322 |
341 | L>V | No |
ClinGen TOPMed |
|
|
CA9198595 rs371447462 |
343 | A>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs774833782 CA9198594 |
343 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774833782 CA404023715 |
343 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9198596 rs371447462 |
343 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1249025201 CA404023734 |
344 | I>T | No |
ClinGen gnomAD |
|
|
CA9198599 rs764313413 |
348 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs754095294 CA9198600 |
349 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA404023829 rs757611152 |
351 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404023834 rs1168816611 |
351 | S>N | No |
ClinGen gnomAD |
|
|
CA9198601 rs757611152 |
351 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1399558015 CA404023842 |
351 | S>R | No |
ClinGen gnomAD |
|
|
CA404023923 rs1401674427 |
353 | A>T | No |
ClinGen gnomAD |
|
|
CA9198622 rs146657864 |
354 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs766127020 CA9198625 |
357 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9198624 rs766127020 |
357 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766127020 CA404023988 |
357 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9198626 rs754962174 |
358 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1353663308 CA404024059 |
360 | S>F | No |
ClinGen gnomAD |
|
|
CA404024168 rs1599254280 |
367 | T>P | No |
ClinGen Ensembl |
|
| rs768707304 | 369 | F>missing | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs958586685 CA404024244 |
370 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA404024242 rs1424578483 |
370 | L>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1242678384 CA404024261 |
373 | L>F | No |
ClinGen TOPMed |
|
|
CA9198634 rs772464051 |
376 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404024289 rs780345107 |
377 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA9198635 rs780345107 |
377 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
CA9198636 rs747513584 |
379 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA305240357 rs372802231 |
380 | S>N | No |
ClinGen Ensembl |
|
|
rs979719604 CA305240358 |
381 | T>I | No |
ClinGen TOPMed |
|
|
rs1254450587 CA404024505 |
387 | T>A | No |
ClinGen gnomAD |
|
|
rs527263725 CA9198661 |
388 | S>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
COSM72699 CA9198662 rs759275912 |
389 | N>S | ovary Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
COSM126268 rs150407692 CA9198664 |
390 | E>K | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA404024561 rs760591742 |
391 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9198665 rs760591742 |
391 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9198667 rs753221090 |
392 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1400472748 CA404024565 |
392 | V>F | No |
ClinGen gnomAD |
|
|
rs1158615998 CA404024577 |
394 | K>E | No |
ClinGen TOPMed |
|
|
rs1178017830 CA404024581 |
394 | K>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA305240392 rs199672670 |
394 | K>T | No |
ClinGen TOPMed |
|
|
rs764935100 CA404024620 |
399 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1401833882 CA404024622 |
400 | P>T | No |
ClinGen gnomAD |
|
| TCGA novel | 401 | C>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1444006302 CA404024629 |
401 | C>R | No |
ClinGen gnomAD |
|
|
CA404024637 rs1298081422 |
402 | P>A | No |
ClinGen gnomAD |
|
|
rs750133710 CA9198670 |
402 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs149648869 CA9198671 |
403 | F>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9198672 rs781723158 |
404 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs146776109 CA9198674 |
405 | A>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs146776109 CA9198673 |
405 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs749268492 CA9198676 |
407 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA9198677 rs771063737 |
409 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9198692 rs778091244 |
412 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA305240621 rs974798166 |
412 | T>P | No |
ClinGen Ensembl |
|
|
CA305240629 rs116819166 |
413 | F>L | No |
ClinGen 1000Genomes TOPMed |
|
|
rs920305938 CA305240625 |
413 | F>S | No |
ClinGen Ensembl |
|
|
CA305240631 rs930384876 |
415 | S>P | No |
ClinGen gnomAD |
|
|
CA404024738 rs1599255494 |
417 | N>H | No |
ClinGen Ensembl |
|
|
CA404024742 rs1568453698 |
417 | N>S | No |
ClinGen Ensembl |
|
|
CA305240634 rs961873464 |
418 | E>V | No |
ClinGen Ensembl |
|
|
rs1047470771 CA305240638 |
419 | S>P | No |
ClinGen Ensembl |
|
|
rs1398192414 CA404024759 |
420 | R>C | No |
ClinGen TOPMed |
|
|
CA9198693 rs754398847 |
420 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404024761 rs754398847 |
420 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404024796 rs1425098675 |
422 | C>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 423 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9198695 rs138987068 |
424 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs746087021 CA9198696 |
426 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA404024864 rs1300382285 |
426 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA404024890 rs1343831487 |
428 | Q>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1381430201 CA404024967 |
432 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
CA404024977 rs746736096 |
433 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404024974 rs746736096 |
433 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746736096 CA9198699 |
433 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 435 | E>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA404025034 rs1395706959 |
436 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA404025057 rs1358586146 |
437 | G>V | No |
ClinGen gnomAD |
|
|
CA404025075 rs1161881968 |
439 | H>Y | No |
ClinGen gnomAD |
|
|
rs776404174 CA9198701 |
440 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs376838278 CA9198703 |
440 | R>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
rs776404174 CA9198702 |
440 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA404025108 rs1253000543 |
441 | A>P | No |
ClinGen TOPMed |
|
|
CA404025110 rs1253000543 |
441 | A>S | No |
ClinGen TOPMed |
|
|
rs866068899 CA305240659 |
442 | L>P | No |
ClinGen Ensembl |
|
|
rs980774061 CA305240666 |
447 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA9198706 rs766071342 |
447 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA9198707 rs751245384 |
448 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1181268521 CA404025258 |
449 | N>S | No |
ClinGen gnomAD |
|
|
CA305240673 rs934391660 |
450 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA9198708 rs141626156 |
450 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA404025280 rs934391660 |
450 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA404025305 rs764571362 |
452 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9198709 rs764571362 |
452 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9198710 rs754289047 |
455 | W>S | No |
ClinGen ExAC gnomAD |
|
|
rs146200895 CA9198712 |
456 | L>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs146200895 CA305240682 |
456 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9198713 rs750449869 |
460 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA9198714 rs78300465 |
462 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 465 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1337147031 CA404025465 |
465 | Q>R | No |
ClinGen TOPMed |
|
|
rs757261250 CA305240689 |
466 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs757261250 CA305240692 |
466 | V>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1336119913 CA404025512 |
467 | T>M | No |
ClinGen gnomAD |
|
|
rs1311446726 CA404025554 |
470 | G>E | No |
ClinGen gnomAD |
|
|
CA9198716 rs11544831 CA404025550 |
470 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA404025573 rs1223040546 |
471 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1223040546 CA404025574 |
471 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs748027899 CA9198719 |
473 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA305240703 rs1011586010 |
474 | S>F | No |
ClinGen TOPMed |
|
| TCGA novel | 476 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1457830034 CA404025669 |
478 | A>S | No |
ClinGen gnomAD |
|
| TCGA novel | 478 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA305240704 rs900025022 |
479 | L>P | No |
ClinGen TOPMed |
|
|
rs773295872 CA9198721 |
480 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA404025696 rs199917631 |
480 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9198722 rs199917631 |
480 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs773842214 CA9198725 |
486 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1175997043 CA404025778 |
486 | P>L | No |
ClinGen gnomAD |
|
| TCGA novel | 487 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA404025781 rs1467308689 |
487 | A>T | No |
ClinGen gnomAD |
|
|
rs1333957235 CA404025820 |
489 | P>L | No |
ClinGen gnomAD |
|
|
CA404025817 rs1333957235 |
489 | P>Q | No |
ClinGen gnomAD |
|
|
rs997524800 CA305240706 |
489 | P>S | No |
ClinGen gnomAD |
|
|
rs759293419 CA9198726 |
490 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9198728 rs776988048 |
492 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA9198729 rs762179162 |
493 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA404025876 rs1200041015 |
494 | F>I | No |
ClinGen gnomAD |
|
|
rs765688160 CA9198730 |
495 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA404025908 rs1202831048 |
496 | R>Q | No |
ClinGen TOPMed |
|
|
rs750963982 CA9198731 |
496 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1479695192 CA404025927 |
498 | L>P | No |
ClinGen gnomAD |
|
|
CA404026783 rs1599256059 |
500 | Y>D | No |
ClinGen Ensembl |
|
|
CA9198744 rs745375690 |
502 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9198746 rs781300737 |
503 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762129734 CA9198747 |
505 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1599256099 CA404026820 |
506 | A>G | No |
ClinGen Ensembl |
|
|
rs1315857582 CA404026823 |
507 | F>I | No |
ClinGen gnomAD |
|
|
CA404026841 rs760459876 |
509 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA404026837 rs1244933848 |
509 | A>T | No |
ClinGen gnomAD |
|
|
CA305240713 rs760459876 |
509 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA9198752 rs751587084 |
511 | I>M | No |
ClinGen ExAC |
|
|
rs755022042 CA9198753 |
513 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374284751 CA9198754 |
513 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9198757 rs777757978 |
516 | Q>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1328709638 CA404026878 |
516 | Q>P | No |
ClinGen TOPMed |
|
|
rs778730687 CA9198760 |
519 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs778730687 CA404026920 |
519 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA9198764 rs571971748 |
528 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs773630712 CA9198766 |
529 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404027230 rs1249483153 |
531 | A>V | No |
ClinGen gnomAD |
|
|
CA404027288 rs1214830630 |
533 | E>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs749613364 CA9198786 |
535 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404027405 rs1201125482 |
538 | K>Q | No |
ClinGen gnomAD |
|
|
rs771230764 CA9198787 |
540 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA9198788 rs774891025 |
541 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA305240838 rs367628212 |
541 | M>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA9198789 rs760009102 |
544 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA9198790 rs772264206 |
546 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9198792 rs560744975 |
548 | F>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1298167353 CA404027692 |
548 | F>S | No |
ClinGen gnomAD |
|
|
rs560744975 CA9198791 |
548 | F>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 549 | W>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1391902888 CA404027739 |
550 | C>G | No |
ClinGen gnomAD |
|
|
rs764362676 CA9198793 |
550 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs142741358 CA9198794 |
552 | E>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA404027800 rs1224202062 |
553 | K>E | No |
ClinGen TOPMed |
|
|
CA9198796 rs371805689 CA9198797 |
553 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9198798 rs758337344 |
554 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1272763846 CA404027837 |
554 | F>L | No |
ClinGen TOPMed |
|
|
CA9198802 rs374709380 |
556 | K>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9198800 rs751010599 |
556 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs374709380 CA9198801 |
556 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA404027866 rs374709380 |
556 | K>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA404027876 rs553168547 |
557 | F>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9198803 rs553168547 |
557 | F>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA404027890 rs1568454790 |
557 | F>L | No |
ClinGen Ensembl |
|
|
rs779201438 CA9198805 |
560 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404027985 rs1186760122 |
563 | Y>H | No |
ClinGen gnomAD |
|
|
rs1437485602 CA404028003 |
564 | I>L | No |
ClinGen TOPMed |
|
|
CA404028155 rs1360329836 |
567 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1454501659 CA404028161 |
568 | I>V | No |
ClinGen gnomAD |
|
|
rs1381735853 CA404028193 |
570 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA404028233 rs1157366043 |
572 | N>S | No |
ClinGen TOPMed |
|
|
rs1157366043 CA404028230 |
572 | N>T | No |
ClinGen TOPMed |
|
|
rs372726473 CA9198831 |
572 | N>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1286112294 CA404028274 |
574 | C>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1286112294 CA404028272 |
574 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA404028288 rs1253026360 |
575 | T>A | No |
ClinGen TOPMed |
|
|
CA9198833 rs762692921 |
575 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762692921 CA9198832 |
575 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs974372782 CA305240848 |
576 | S>A | No |
ClinGen TOPMed |
|
|
CA9198834 rs774249334 |
576 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1462311158 CA404028319 |
578 | R>G | No |
ClinGen gnomAD |
|
|
rs139709421 CA9198835 |
581 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA404028386 rs1243110984 |
581 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1182282289 CA404028380 |
581 | F>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 585 | M>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs111694382 CA9198837 |
589 | I>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs111694382 CA9198838 |
589 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9198853 rs759329283 |
592 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9198854 rs74606707 |
593 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs1200376808 CA404028649 |
593 | V>I | No |
ClinGen gnomAD |
|
| TCGA novel | 594 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA404028683 rs1599257928 |
595 | D>G | No |
ClinGen Ensembl |
|
|
rs994267610 CA305240851 |
597 | V>A | No |
ClinGen gnomAD |
|
|
rs994267610 CA404028723 |
597 | V>G | No |
ClinGen gnomAD |
|
|
rs1175751153 CA404028829 |
598 | T>I | No |
ClinGen gnomAD |
|
|
CA404028836 rs1410407367 |
599 | D>E | No |
ClinGen gnomAD |
|
|
rs1464470734 CA404028857 |
602 | F>S | No |
ClinGen TOPMed |
|
|
CA305240853 rs369601312 |
608 | L>P | No |
ClinGen ESP |
|
|
CA305240852 rs989273778 |
608 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA404028914 rs537022440 |
609 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs541056166 CA9198857 |
610 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA404028917 rs541056166 |
610 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1221332452 CA404028943 |
612 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1273659650 CA404028945 |
612 | S>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1273659650 CA404028949 |
612 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1221332452 CA404028939 |
612 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1339492234 CA404028953 |
612 | S>R | No |
ClinGen gnomAD |
|
|
rs761629968 CA404028967 |
614 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761629968 CA9198859 |
614 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404029031 rs1170543302 |
615 | I>V | No |
ClinGen TOPMed |
|
|
CA404029079 rs1385168936 |
618 | F>C | No |
ClinGen TOPMed gnomAD |
|
|
CA9198881 rs145745328 |
619 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA305240866 rs1050053288 |
620 | F>S | No |
ClinGen Ensembl |
|
|
rs759786095 CA9198882 |
622 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA9198884 rs753129411 |
624 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA9198885 rs767907543 |
624 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1244578167 CA404029225 |
626 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA305240867 rs980299310 |
626 | R>S | No |
ClinGen TOPMed |
|
|
CA9198887 rs753856028 |
628 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9198889 rs779075954 |
629 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1267517455 CA404029276 |
629 | Q>R | No |
ClinGen gnomAD |
|
|
CA9198890 rs746140603 |
633 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404029323 rs1184099874 |
633 | P>S | No |
ClinGen gnomAD |
|
|
CA404029379 rs1599258314 |
636 | N>S | No |
ClinGen Ensembl |
|
| TCGA novel | 640 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs758116568 CA9198891 |
643 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA404029501 rs1308818812 |
643 | L>V | No |
ClinGen Ensembl |
|
|
rs764490981 CA9198929 COSM1390174 |
644 | T>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed |
|
CA9198931 rs762375251 |
645 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA305245341 rs148958474 |
647 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP NCI-TCGA TOPMed gnomAD |
| TCGA novel | 653 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA404030440 rs550685298 |
654 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1223992851 CA404030443 |
655 | G>R | No |
ClinGen gnomAD |
|
|
rs1223992851 CA404030442 |
655 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1207501416 CA404030468 |
658 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA9198937 rs754794499 |
659 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1023184660 CA404030493 |
660 | Y>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1023184660 CA305245356 |
660 | Y>F | No |
ClinGen TOPMed gnomAD |
|
|
CA9198938 rs577834746 |
661 | G>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA404030523 rs1599262508 |
662 | M>I | No |
ClinGen Ensembl |
|
|
COSM3718047 rs971181236 CA305245363 |
666 | T>M | liver [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA404030581 rs1395684323 |
667 | L>Q | No |
ClinGen TOPMed |
|
|
CA404030622 rs1331241030 |
670 | C>* | No |
ClinGen TOPMed |
|
|
rs1393491697 CA404032024 |
675 | L>P | No |
ClinGen Ensembl |
|
|
CA404032061 rs1342813612 |
677 | R>K | No |
ClinGen gnomAD |
|
|
CA305246336 rs965867474 |
678 | N>H | No |
ClinGen Ensembl |
|
|
rs768714484 CA9199014 |
678 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9199016 rs761484693 |
680 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA9199017 rs571972029 |
681 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA404032164 rs751010600 |
682 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9199020 rs766306131 |
682 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA9199021 rs751010600 |
682 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9199024 rs752432975 |
683 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752432975 COSM710168 CA9199025 |
683 | E>K | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 685 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA305246441 rs17403917 |
685 | P>L | No |
ClinGen Ensembl |
|
|
CA9199026 rs779487116 |
686 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA9199027 rs367922699 |
687 | F>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs758919216 CA404032281 CA9199028 |
688 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs780730911 CA9199029 |
691 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA9199030 rs747022354 |
693 | K>* | No |
ClinGen ExAC gnomAD |
|
|
rs1599263790 CA404032388 |
694 | K>N | No |
ClinGen Ensembl |
|
|
rs575923698 CA9199031 |
694 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9199032 rs781252886 |
695 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs17854044 CA305246502 |
695 | L>P | No |
ClinGen Ensembl |
|
|
CA9199033 rs748464396 |
696 | L>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 700 | N>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1568457631 CA404032497 |
700 | N>T | No |
ClinGen Ensembl |
|
|
rs115110577 CA404032587 |
704 | A>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs115110577 CA9199036 |
704 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs949152877 CA305246531 |
705 | E>D | No |
ClinGen Ensembl |
|
| rs1488613842 | 707 | S>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA404032645 rs1488613842 |
707 | S>L | No |
ClinGen gnomAD |
|
|
CA404032654 rs1192388557 |
707 | S>W | No |
ClinGen gnomAD |
No associated diseases with Q8IWA5
No regional properties for Q8IWA5
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q8IWA5 | |||
Functions
7 GO annotations of cellular component
| Name | Definition |
|---|---|
| extracellular exosome | A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm. |
| 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. |
| lysosomal membrane | The lipid bilayer surrounding the lysosome and separating its contents from the cell cytoplasm. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
| mitochondrion | A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| specific granule membrane | The lipid bilayer surrounding a specific granule, a granule with a membranous, tubular internal structure, found primarily in mature neutrophil cells. Most are released into the extracellular fluid. Specific granules contain lactoferrin, lysozyme, vitamin B12 binding protein and elastase. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| choline transmembrane transporter activity | Enables the transfer of choline from one side of a membrane to the other. Choline (2-hydroxyethyltrimethylammonium) is an amino alcohol that occurs widely in living organisms as a constituent of certain types of phospholipids and in the neurotransmitter acetylcholine. |
| 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. |
4 GO annotations of biological process
| Name | Definition |
|---|---|
| choline transport | The directed movement of choline into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Choline (2-hydroxyethyltrimethylammonium) is an amino alcohol that occurs widely in living organisms as a constituent of certain types of phospholipids and in the neurotransmitter acetylcholine. |
| phosphatidylcholine biosynthetic process | The chemical reactions and pathways resulting in the formation of phosphatidylcholines, any of a class of glycerophospholipids in which the phosphatidyl group is esterified to the hydroxyl group of choline. |
| positive regulation of I-kappaB kinase/NF-kappaB signaling | Any process that activates or increases the frequency, rate or extent of I-kappaB kinase/NF-kappaB signaling. |
| transmembrane transport | The process in which a solute is transported across a lipid bilayer, from one side of a membrane to the other. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MGDERPHYYG | KHGTPQKYDP | TFKGPIYNRG | CTDIICCVFL | LLAIVGYVAV | GIIAWTHGDP |
| 70 | 80 | 90 | 100 | 110 | 120 |
| RKVIYPTDSR | GEFCGQKGTK | NENKPYLFYF | NIVKCASPLV | LLEFQCPTPQ | ICVEKCPDRY |
| 130 | 140 | 150 | 160 | 170 | 180 |
| LTYLNARSSR | DFEYYKQFCV | PGFKNNKGVA | EVLQDGDCPA | VLIPSKPLAR | RCFPAIHAYK |
| 190 | 200 | 210 | 220 | 230 | 240 |
| GVLMVGNETT | YEDGHGSRKN | ITDLVEGAKK | ANGVLEARQL | AMRIFEDYTV | SWYWIIIGLV |
| 250 | 260 | 270 | 280 | 290 | 300 |
| IAMAMSLLFI | ILLRFLAGIM | VWVMIIMVIL | VLGYGIFHCY | MEYSRLRGEA | GSDVSLVDLG |
| 310 | 320 | 330 | 340 | 350 | 360 |
| FQTDFRVYLH | LRQTWLAFMI | ILSILEVIII | LLLIFLRKRI | LIAIALIKEA | SRAVGYVMCS |
| 370 | 380 | 390 | 400 | 410 | 420 |
| LLYPLVTFFL | LCLCIAYWAS | TAVFLSTSNE | AVYKIFDDSP | CPFTAKTCNP | ETFPSSNESR |
| 430 | 440 | 450 | 460 | 470 | 480 |
| QCPNARCQFA | FYGGESGYHR | ALLGLQIFNA | FMFFWLANFV | LALGQVTLAG | AFASYYWALR |
| 490 | 500 | 510 | 520 | 530 | 540 |
| KPDDLPAFPL | FSAFGRALRY | HTGSLAFGAL | ILAIVQIIRV | ILEYLDQRLK | AAENKFAKCL |
| 550 | 560 | 570 | 580 | 590 | 600 |
| MTCLKCCFWC | LEKFIKFLNR | NAYIMIAIYG | TNFCTSARNA | FFLLMRNIIR | VAVLDKVTDF |
| 610 | 620 | 630 | 640 | 650 | 660 |
| LFLLGKLLIV | GSVGILAFFF | FTHRIRIVQD | TAPPLNYYWV | PILTVIVGSY | LIAHGFFSVY |
| 670 | 680 | 690 | 700 | ||
| GMCVDTLFLC | FLEDLERNDG | SAERPYFMSS | TLKKLLNKTN | KKAAES |