Q8TC27
PR
Gene name |
ADAM32 (UNQ5982/PRO21340) |
Protein name |
Disintegrin and metalloproteinase domain-containing protein 32 |
Names |
ADAM 32 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:203102 |
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 Q8TC27
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q8TC27-F1 | Predicted | AlphaFoldDB |
655 variants for Q8TC27
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA370741145 rs1308776934 |
3 | R>H | No |
ClinGen gnomAD |
|
|
rs960074316 CA175181447 |
5 | W>L | No |
ClinGen gnomAD |
|
|
CA175181452 rs892274949 |
7 | L>P | No |
ClinGen TOPMed |
|
|
rs1407329389 CA370741193 |
7 | L>V | No |
TOPMed gnomAD ClinGen |
|
|
CA370741230 rs1259857406 |
9 | A>T | No |
ClinGen gnomAD |
|
|
rs1186152120 CA370741247 CA370741249 |
10 | G>R | No |
TOPMed gnomAD ClinGen |
|
|
rs1186152120 CA370741251 |
10 | G>W | No |
TOPMed gnomAD ClinGen |
|
|
CA370741265 rs1345287633 |
11 | L>F | No |
gnomAD ClinGen |
|
|
CA370741297 rs1430407583 |
13 | G>S | No |
ClinGen gnomAD |
|
|
CA370741314 rs1588449236 |
14 | L>F | No |
ClinGen Ensembl |
|
|
CA175181461 rs969701859 |
17 | S>P | No |
TOPMed ClinGen |
|
| TCGA novel | 18 | R>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA370741397 rs1309362328 |
19 | P>L | No |
ClinGen TOPMed |
|
|
rs1433245663 CA370741391 |
19 | P>S | No |
TOPMed gnomAD ClinGen |
|
|
rs779478441 CA4722044 |
20 | G>D | No |
ExAC TOPMed ClinGen |
|
|
CA370743225 rs746529332 |
28 | I>F | No |
ExAC gnomAD ClinGen |
|
|
CA4722046 rs746529332 |
28 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA4722047 rs372433561 |
29 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1305133068 CA370743288 |
32 | E>D | No |
ClinGen gnomAD |
|
|
CA175187886 rs1050018768 |
34 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA175187888 rs891250354 |
36 | T>I | No |
TOPMed ClinGen |
|
|
CA175187890 rs1054781834 |
38 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA370743370 rs1272578879 |
38 | T>I | No |
ClinGen gnomAD |
|
|
CA370743462 rs1335092543 |
44 | I>M | No |
TOPMed ClinGen |
|
|
CA175187893 rs1008391440 |
45 | E>A | No |
TOPMed gnomAD ClinGen |
|
|
CA370743470 rs1008391440 |
45 | E>G | No |
TOPMed gnomAD ClinGen |
|
|
CA4722077 rs554935919 |
49 | I>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1180896577 CA370745621 |
49 | I>M | No |
gnomAD ClinGen |
|
|
rs201616533 CA4722078 |
50 | S>C | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs908826839 CA175200286 |
51 | Y>C | No |
Ensembl ClinGen |
|
|
CA4722081 rs761749640 |
52 | I>V | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA370745681 rs1461021466 |
54 | P>A | No |
TOPMed gnomAD ClinGen |
|
|
CA4722082 rs765162076 |
55 | I>K | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA4722083 rs750182100 |
55 | I>M | No |
ExAC gnomAD ClinGen |
|
|
CA370745695 rs765162076 |
55 | I>R | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA4722086 rs762762523 |
59 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1333546797 CA370745769 |
60 | Y>C | No |
ClinGen gnomAD |
|
|
CA4722088 rs751269626 |
61 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA370745918 rs1259759829 |
62 | V>M | No |
ClinGen TOPMed |
|
|
CA370745927 rs1486333430 |
63 | H>P | No |
ClinGen TOPMed |
|
|
CA175207353 rs1029555016 |
69 | F>I | No |
Ensembl ClinGen |
|
|
CA175207354 rs894233257 |
69 | F>L | No |
TOPMed gnomAD ClinGen |
|
| TCGA novel | 70 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs779269419 CA4722102 |
71 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA370746888 rs1275825756 |
72 | D>H | No |
ClinGen gnomAD |
|
|
rs1024008173 CA175207368 |
75 | M>K | No |
TOPMed ClinGen |
|
|
rs867975921 CA175207363 |
75 | M>L | No |
ClinGen TOPMed |
|
|
rs867975921 CA175207360 |
75 | M>V | No |
ClinGen TOPMed |
|
|
CA370746958 rs1564482697 |
76 | I>M | No |
ClinGen Ensembl |
|
|
CA370746998 rs1418854238 |
79 | Y>C | No |
ClinGen TOPMed |
|
|
rs1204686140 CA370747018 |
80 | N>S | No |
TOPMed gnomAD ClinGen |
|
|
CA370747042 rs1341200228 |
82 | G>* | No |
gnomAD ClinGen |
|
|
rs1205674806 CA370747043 |
82 | G>E | No |
gnomAD ClinGen |
|
|
CA370747040 rs1341200228 |
82 | G>R | No |
ClinGen gnomAD |
|
|
CA4722104 rs374929738 |
84 | M>V | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
| TCGA novel | 87 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA370747153 rs1425082688 |
90 | D>E | No |
ClinGen TOPMed |
|
|
CA370747149 rs1184734462 |
90 | D>G | No |
TOPMed ClinGen |
|
|
CA370747157 rs1180437107 |
91 | I>V | No |
gnomAD ClinGen |
|
|
CA370747181 rs1258291242 |
92 | Q>H | No |
TOPMed gnomAD ClinGen |
|
|
CA175207377 rs868138060 |
92 | Q>R | No |
ClinGen Ensembl |
|
|
rs1259761596 CA370747998 |
94 | Q>* | No |
TOPMed gnomAD ClinGen |
|
| TCGA novel | 94 | Q>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA175208771 rs17856744 |
98 | Q>L | No |
ClinGen TOPMed |
|
|
VAR_055241 rs17856744 CA175208768 |
98 | Q>R | No |
ClinGen UniProt TOPMed dbSNP |
|
|
CA370748067 rs1189812499 |
100 | N>S | No |
gnomAD ClinGen |
|
|
rs1394810030 CA370748080 |
101 | I>T | No |
gnomAD ClinGen |
|
|
rs1351919448 CA370748075 |
101 | I>V | No |
ClinGen TOPMed |
|
|
CA370748089 rs1585404119 |
102 | E>A | No |
ClinGen Ensembl |
|
|
CA175208774 rs201059205 |
103 | G>A | No |
Ensembl ClinGen |
|
|
rs1453021623 CA370748106 |
104 | Y>H | No |
ClinGen gnomAD |
|
|
CA4722120 rs752201542 |
106 | D>Y | No |
ExAC gnomAD ClinGen |
|
|
CA175208821 rs935469892 |
108 | M>T | No |
TOPMed gnomAD ClinGen |
|
|
CA4722121 rs755733672 |
108 | M>V | No |
ExAC TOPMed gnomAD ClinGen |
|
|
COSM268487 CA4722122 rs764664916 |
113 | T>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA15572322 rs764664916 |
113 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1004189119 CA175208822 |
113 | T>S | No |
ClinGen TOPMed |
|
|
CA4722124 rs757678647 |
114 | C>R | No |
ExAC gnomAD ClinGen |
|
|
rs371182952 CA175208827 |
115 | S>F | No |
ESP TOPMed gnomAD ClinGen |
|
|
CA4722133 rs373477448 |
119 | G>R | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
| TCGA novel | 119 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4722134 rs774129995 |
120 | I>V | No |
ExAC gnomAD ClinGen |
|
|
CA370748311 rs1564490760 |
121 | L>P | No |
Ensembl ClinGen |
|
|
rs759283557 CA4722135 |
124 | E>A | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA370748408 rs537620944 |
129 | G>E | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
rs537620944 CA4722137 |
129 | G>V | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
rs760256356 CA4722138 |
130 | I>V | No |
ExAC gnomAD ClinGen |
|
|
CA4722139 rs763754922 |
131 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs997522392 CA175209505 |
132 | P>H | No |
TOPMed ClinGen |
|
|
CA175209509 rs990210881 |
134 | E>* | No |
ClinGen Ensembl |
|
|
CA370748485 rs1341109526 |
136 | A>S | No |
gnomAD ClinGen |
|
|
rs557580470 CA4722141 |
137 | V>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs577458983 CA4722142 |
138 | E>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA370748691 rs1415037560 |
151 | N>H | No |
gnomAD ClinGen |
|
|
CA4722143 rs750753913 |
151 | N>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 152 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs758741966 CA4722144 |
153 | I>T | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs780294746 CA4722145 |
154 | A>V | No |
ExAC gnomAD ClinGen |
|
|
CA370748762 rs1460315424 |
156 | F>L | No |
ClinGen gnomAD |
|
|
rs1306387120 CA370748766 |
157 | I>F | No |
ClinGen gnomAD |
|
|
CA4722146 rs751850221 |
157 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1410685793 CA370748785 |
158 | D>E | No |
ClinGen gnomAD |
|
|
CA370748788 rs1292701542 |
159 | R>G | No |
gnomAD ClinGen |
|
|
VAR_055242 rs17852343 CA175209526 |
160 | S>G | No |
ClinGen UniProt Ensembl dbSNP |
|
|
rs755037795 CA4722147 |
160 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA370748814 CA4722148 rs781190970 |
160 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs945830028 CA175209544 |
161 | L>P | No |
ClinGen Ensembl |
|
|
CA370748826 rs1585407318 |
162 | K>E | No |
ClinGen Ensembl |
|
|
CA4722150 rs770863510 |
163 | E>K | No |
ExAC gnomAD ClinGen |
|
|
CA370748854 rs1307271040 |
164 | Q>K | No |
gnomAD ClinGen |
|
|
rs1354659601 CA370748861 |
164 | Q>P | No |
TOPMed ClinGen |
|
|
CA4722151 rs778763345 |
166 | M>L | No |
ExAC gnomAD ClinGen |
|
|
CA4722152 rs200716726 |
168 | D>N | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1426765540 CA4722154 |
169 | N>K | No |
TOPMed ClinGen |
|
|
rs745643524 CA4722157 |
171 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370748921 rs1483145345 |
171 | F>V | No |
gnomAD ClinGen |
|
|
CA370748943 rs1235199220 |
174 | E>* | No |
ClinGen gnomAD |
|
|
rs771827902 CA4722158 |
175 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA175213471 rs1055057859 |
177 | E>* | No |
TOPMed gnomAD ClinGen |
|
|
CA4722173 rs752727462 |
178 | P>A | No |
ExAC gnomAD ClinGen |
|
|
rs756186164 CA4722174 |
179 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs756186164 CA175213479 |
179 | A>G | No |
ExAC gnomAD ClinGen |
|
|
CA370750384 rs1423408467 |
179 | A>T | No |
gnomAD ClinGen |
|
|
rs756186164 CA370750390 |
179 | A>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 180 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1334850257 CA370750398 |
180 | V>D | No |
gnomAD ClinGen |
|
|
CA370750423 rs1344708715 |
182 | D>G | No |
gnomAD ClinGen |
|
|
rs1010573444 CA175213481 |
182 | D>H | No |
TOPMed gnomAD ClinGen |
|
|
CA370750417 rs1010573444 |
182 | D>Y | No |
TOPMed gnomAD ClinGen |
|
|
rs921674359 CA175213485 |
184 | F>L | No |
ClinGen TOPMed |
|
|
rs1479601923 CA370750463 |
185 | P>L | No |
TOPMed ClinGen |
|
|
CA370750493 rs1271293177 |
187 | Y>* | No |
ClinGen TOPMed |
|
|
rs1585426700 CA370750498 |
188 | L>V | No |
ClinGen Ensembl |
|
|
CA4722175 rs762785311 |
189 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA175213492 rs953140398 |
189 | E>K | No |
TOPMed ClinGen |
|
|
CA4722179 rs200851034 |
190 | M>I | No |
1000Genomes ExAC gnomAD ClinGen |
|
|
CA4722177 rs772059462 |
190 | M>L | No |
ExAC gnomAD ClinGen |
|
|
CA4722178 rs772059462 |
190 | M>V | No |
ExAC gnomAD ClinGen |
|
|
CA370750539 rs1234089706 |
191 | H>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA370750535 rs1304887190 |
191 | H>Y | No |
ClinGen gnomAD |
|
|
CA370750578 rs1585426806 |
194 | V>A | No |
Ensembl ClinGen |
|
|
rs201473947 CA4722180 |
194 | V>M | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs866183919 CA175213511 |
195 | D>G | No |
Ensembl ClinGen |
|
|
rs1346598199 CA370750599 |
196 | K>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1346598199 CA370750596 |
196 | K>Q | No |
TOPMed gnomAD ClinGen |
|
| TCGA novel | 197 | T>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs769256281 | 198 | L>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs370655802 CA4722182 |
198 | L>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200075407 CA4722197 |
199 | Y>C | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA4722198 rs375780370 |
200 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA370744467 rs1321938141 |
200 | D>G | No |
ClinGen gnomAD |
|
|
CA370744474 rs1436716529 |
201 | Y>S | No |
gnomAD ClinGen |
|
|
rs746777257 CA4722199 |
203 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1326448932 CA370744492 |
203 | G>V | No |
TOPMed gnomAD ClinGen |
|
|
CA370744495 rs1293705115 |
204 | S>P | No |
ClinGen TOPMed |
|
|
CA175181267 rs367626948 |
206 | S>G | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA4722202 rs190911675 |
208 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1208011977 CA370744528 |
208 | I>R | No |
ClinGen TOPMed gnomAD |
|
|
CA370744526 rs1208011977 |
208 | I>T | No |
TOPMed gnomAD ClinGen |
|
|
CA370744529 rs1452004914 |
209 | V>I | No |
ClinGen gnomAD |
|
|
CA370744536 rs1382701406 |
210 | T>A | No |
ClinGen TOPMed |
|
|
CA4722203 rs375823664 |
213 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4722205 COSM1099716 rs567675296 |
215 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed |
|
rs1412807773 CA370744592 |
217 | V>F | No |
gnomAD ClinGen |
|
|
rs1412807773 CA370744594 |
217 | V>I | No |
gnomAD ClinGen |
|
|
rs1457811666 CA370744609 |
218 | G>A | No |
ClinGen gnomAD |
|
|
CA370744613 rs1162023223 |
219 | L>F | No |
gnomAD ClinGen |
|
|
rs1394712361 CA370744624 |
220 | A>P | No |
ClinGen TOPMed |
|
|
rs1393302973 CA370744654 |
222 | S>L | No |
TOPMed gnomAD ClinGen |
|
|
rs1236386240 CA370744761 |
227 | F>L | No |
TOPMed ClinGen |
|
|
CA370744788 rs1348056971 |
229 | V>I | No |
ClinGen TOPMed |
|
| TCGA novel | 230 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754808674 CA4722219 |
231 | I>V | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA4722221 rs781076419 |
233 | L>P | No |
ExAC gnomAD ClinGen |
|
|
rs1275694890 CA370744847 |
234 | S>P | No |
gnomAD ClinGen |
|
|
rs199554191 CA4722223 |
235 | S>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4722224 rs542286585 |
237 | E>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4722225 rs748728799 |
238 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 238 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4722226 rs770492562 |
239 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA370744908 rs770492562 |
239 | W>L | No |
ExAC gnomAD ClinGen |
|
|
rs1451772653 CA370744940 |
241 | D>E | No |
ClinGen gnomAD |
|
|
CA370744935 rs1172380281 |
241 | D>G | No |
TOPMed ClinGen |
|
|
rs774823269 CA4722227 |
243 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 244 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1376777898 CA370744981 |
245 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1050338220 CA175181569 |
248 | V>D | No |
Ensembl ClinGen |
|
|
rs1304014668 CA370745041 |
250 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 252 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs775677164 CA4722230 |
253 | E>D | No |
ExAC gnomAD ClinGen |
|
| TCGA novel | 254 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761122496 CA4722231 |
254 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs761981921 CA175181613 |
261 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761981921 CA4722234 |
261 | W>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765472860 CA4722235 |
262 | K>E | No |
ExAC gnomAD ClinGen |
|
|
CA4722236 rs750544835 |
264 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs774099109 CA4722238 |
268 | L>I | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs752389361 CA175181640 |
270 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752389361 CA4722239 |
270 | P>T | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA4722240 rs755988953 |
271 | H>L | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA371027915 rs755988953 |
271 | H>R | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA4722241 rs562241437 |
272 | D>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA371027922 rs562241437 |
272 | D>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs753582503 CA4722242 |
273 | I>F | No |
ClinGen ExAC |
|
|
rs1177827082 CA371027929 |
273 | I>T | No |
ClinGen gnomAD |
|
|
rs575775814 CA371027932 |
274 | A>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs575775814 CA4722243 |
274 | A>T | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
CA4722245 rs745409956 |
275 | Y>C | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs373210270 CA175181664 |
276 | L>I | No |
ESP TOPMed gnomAD ClinGen |
|
|
rs373210270 CA175181669 |
276 | L>V | No |
ESP TOPMed gnomAD ClinGen |
|
|
rs1435744950 CA371027956 |
278 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs753631843 CA4722260 |
284 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA4722261 rs373931512 |
284 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 284 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 285 | Y>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4722263 rs749911964 |
286 | L>V | No |
ExAC gnomAD ClinGen |
|
|
rs1180762711 CA371028029 |
287 | G>R | No |
ClinGen TOPMed |
|
|
CA4722264 rs757941937 |
288 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA371028050 rs1481770888 |
290 | F>S | No |
TOPMed ClinGen |
|
|
rs1224158416 CA371028057 |
291 | P>L | No |
ClinGen gnomAD |
|
| TCGA novel | 291 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA371028067 rs1482496448 |
293 | T>A | No |
gnomAD ClinGen |
|
|
rs769058176 CA371028075 |
294 | M>K | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs769058176 CA4722267 |
294 | M>T | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA371028083 rs1253308081 |
295 | C>Y | No |
TOPMed gnomAD ClinGen |
|
|
rs781554912 CA4722268 |
296 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1181194357 CA371028094 |
297 | T>P | No |
gnomAD ClinGen |
|
|
rs748555532 CA4722269 |
298 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC gnomAD ClinGen NCI-TCGA |
|
rs199865553 CA4722270 |
298 | R>H | Variant assessed as Somatic; 4.659e-05 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA175184394 rs199865553 |
298 | R>L | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
| TCGA novel | 299 | Y>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA175184402 rs533992931 |
301 | A>V | No |
ClinGen gnomAD |
|
|
CA371028124 rs773620953 |
302 | G>E | No |
ExAC gnomAD ClinGen |
|
|
CA175184410 rs1026729548 |
302 | G>R | No |
Ensembl ClinGen |
|
|
CA4722271 rs773620953 |
302 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs201056250 CA4722272 |
303 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 304 | A>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1306445621 CA371028133 |
304 | A>S | No |
gnomAD ClinGen |
|
|
rs1585488951 CA371028164 |
306 | Y>* | No |
ClinGen Ensembl |
|
|
CA4722288 rs778140916 |
306 | Y>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1338015285 CA371028176 |
308 | K>R | No |
gnomAD ClinGen |
|
|
CA371028182 rs1300273119 |
309 | E>A | No |
gnomAD ClinGen |
|
|
rs1339591371 COSM3395330 CA371028186 |
309 | E>D | pancreas [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs771061077 CA4722290 |
309 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 313 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs774445935 CA4722291 |
313 | E>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC gnomAD ClinGen NCI-TCGA |
|
rs745952927 CA4722292 |
314 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1204193409 CA371028218 |
315 | F>L | No |
TOPMed gnomAD ClinGen |
|
|
CA371028246 rs1385849494 |
319 | V>F | No |
TOPMed ClinGen |
|
|
CA4722293 rs562842223 |
321 | Q>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA371028269 rs1426883676 |
322 | M>I | No |
ClinGen TOPMed |
|
|
rs776591029 CA4722294 |
322 | M>L | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs761589914 CA4722295 |
325 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA175195396 rs9643859 VAR_055243 |
327 | L>V | No |
gnomAD ClinGen UniProt dbSNP |
|
|
CA371028307 rs1423129549 |
329 | I>L | No |
ClinGen gnomAD |
|
|
CA4722296 rs201567035 |
329 | I>M | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA371028318 rs1177781032 |
331 | Y>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
gnomAD ClinGen NCI-TCGA |
|
CA4722298 rs762601690 |
333 | D>G | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs762601690 CA175195415 |
333 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA175195435 rs990896838 |
334 | P>T | No |
ClinGen TOPMed |
|
| TCGA novel | 335 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4722299 rs765979175 |
337 | C>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1327416789 CA371028371 |
338 | Q>R | No |
ClinGen gnomAD |
|
|
rs1369079431 CA371028386 |
340 | S>* | No |
gnomAD ClinGen |
|
|
rs1585489326 CA371028398 |
342 | S>A | No |
Ensembl ClinGen |
|
|
CA371028404 rs1194212532 |
343 | T>A | No |
ClinGen TOPMed |
|
|
rs768110785 CA4722302 |
343 | T>I | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs753326244 CA4722303 |
345 | I>T | No |
ExAC gnomAD ClinGen |
|
| TCGA novel | 348 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA371028445 rs1326937666 |
349 | E>K | No |
gnomAD ClinGen |
|
|
rs1490432790 CA371028459 |
351 | V>M | No |
TOPMed ClinGen |
|
|
rs769729827 CA4722315 |
352 | Q>K | No |
ExAC gnomAD ClinGen |
|
|
CA4722316 rs772951550 |
353 | S>A | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1175210130 CA371028517 |
353 | S>Y | No |
ClinGen TOPMed |
|
|
CA4722317 rs762679792 |
354 | N>H | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA4722318 rs148451555 |
354 | N>S | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA371028533 rs1223539744 |
356 | V>L | No |
ClinGen gnomAD |
|
|
CA4722320 rs773919746 |
358 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA4722319 rs773919746 |
358 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA371028565 rs761221427 COSM1457008 |
360 | S>R | large_intestine [Cosmic] | No |
ExAC gnomAD ClinGen cosmic curated |
|
rs370709858 CA4722324 |
361 | S>G | No |
ClinGen ESP ExAC TOPMed |
|
|
CA371028572 rs754204935 |
361 | S>R | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA4722326 rs757601611 |
362 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371028583 rs1387511292 |
363 | S>N | No |
gnomAD ClinGen |
|
|
rs779192042 CA371028589 |
364 | L>V | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs930173222 CA175210993 |
365 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
rs750666831 CA371028607 |
366 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1585550187 COSM25637 COSM1457009 CA371028609 |
367 | F>L | kidney large_intestine [Cosmic] | No |
Ensembl ClinGen cosmic curated |
|
CA371028643 rs1368149513 |
371 | I>F | No |
gnomAD ClinGen |
|
|
rs1368149513 CA371028642 |
371 | I>V | No |
gnomAD ClinGen |
|
|
CA371028658 rs1392695663 |
373 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA371028662 rs1328955376 |
374 | V>M | No |
gnomAD ClinGen |
|
|
rs758631961 CA4722330 |
375 | G>D | No |
ExAC gnomAD ClinGen |
|
|
rs758631961 CA4722329 |
375 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA371028675 rs1242542597 |
376 | V>D | No |
gnomAD ClinGen |
|
|
rs747125299 CA371028681 |
377 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA4722331 rs747125299 |
377 | K>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs375367242 CA4722333 |
378 | C>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4722334 rs749082564 |
378 | C>S | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA371028693 rs1302225465 |
379 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA4722335 rs376342451 |
383 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA371028740 CA4722338 rs189184451 |
385 | M>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs561970638 CA4722337 |
385 | M>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4722339 rs192316990 |
386 | Q>E | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
COSM1099722 CA371028755 rs1186103636 |
387 | K>N | endometrium [Cosmic] | No |
gnomAD ClinGen cosmic curated |
|
rs947493642 CA175211027 |
388 | K>* | No |
Ensembl ClinGen |
|
|
COSM1457012 rs202074832 CA4722343 |
390 | P>L | large_intestine [Cosmic] | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen cosmic curated |
|
CA175211034 rs997357718 |
392 | P>A | No |
ClinGen Ensembl |
|
|
CA371028792 rs1387867453 |
393 | V>A | No |
ClinGen gnomAD |
|
|
CA175211041 rs373595012 |
394 | C>F | No |
ESP TOPMed ClinGen |
|
|
CA4722346 rs754369001 |
394 | C>G | No |
ExAC gnomAD ClinGen |
|
|
CA4722345 rs754369001 |
394 | C>R | No |
ExAC gnomAD ClinGen |
|
|
rs750803198 CA4722348 |
396 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758580977 CA4722349 |
400 | E>* | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs758580977 CA371028831 |
400 | E>K | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1238849722 CA371028840 |
401 | G>R | No |
TOPMed ClinGen |
|
|
rs1383237291 CA371028872 |
405 | C>F | No |
ClinGen gnomAD |
|
|
CA371028869 rs1203348504 |
405 | C>R | No |
ClinGen TOPMed |
|
|
CA371028890 rs1280931243 |
407 | C>W | No |
ClinGen TOPMed |
|
|
CA371028894 rs1295132760 |
408 | G>D | No |
gnomAD ClinGen |
|
|
rs1305938401 CA371028914 |
411 | A>D | No |
ClinGen gnomAD |
|
|
CA371028939 rs1208976072 |
413 | C>R | No |
TOPMed ClinGen |
|
|
CA4722369 rs766558207 |
415 | P>S | No |
ExAC gnomAD ClinGen |
|
|
CA371028962 rs1200883389 |
416 | A>V | No |
gnomAD ClinGen |
|
|
rs898110858 CA175215106 |
418 | C>G | No |
ClinGen TOPMed |
|
|
rs755041801 CA4722371 |
422 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs141457355 COSM1099724 CA4722372 |
422 | R>Q | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs562794804 CA175215113 |
423 | T>I | No |
1000Genomes ClinGen |
|
|
rs1024937060 CA175215119 |
424 | C>W | No |
ClinGen TOPMed |
|
|
CA4722373 rs752829449 |
425 | V>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 428 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs778956195 CA4722375 |
429 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371029072 rs548625516 |
433 | Y>C | No |
gnomAD ClinGen |
|
|
rs367956626 CA4722376 |
433 | Y>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA175215130 rs548625516 |
433 | Y>S | No |
gnomAD ClinGen |
|
|
rs1297740470 CA371029093 |
436 | L>P | No |
ClinGen gnomAD |
|
|
CA4722377 rs758332508 |
437 | C>R | No |
ExAC gnomAD ClinGen |
|
|
rs964811865 CA175215134 |
438 | C>F | No |
TOPMed ClinGen |
|
|
rs1305568172 CA371029110 |
439 | K>E | No |
gnomAD ClinGen |
|
|
rs369153366 CA4722379 |
439 | K>R | No |
ExAC gnomAD ClinGen |
|
|
rs761150358 CA4722380 |
440 | D>H | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA371029133 rs1585574377 |
442 | Q>E | No |
Ensembl ClinGen |
|
|
CA371029299 rs1292137920 |
443 | I>V | No |
ClinGen gnomAD |
|
|
rs915530379 CA175215543 |
445 | Q>E | No |
Ensembl ClinGen |
|
|
rs375403838 CA175215551 |
447 | G>D | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs747582335 CA4722402 |
447 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1241010296 CA371029337 |
448 | V>D | No |
gnomAD ClinGen |
|
|
CA4722405 rs143711220 |
448 | V>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4722404 rs143711220 |
448 | V>I | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA4722407 rs377360149 COSM1181813 |
452 | P>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA371029378 rs1429361732 |
454 | A>T | No |
gnomAD ClinGen |
|
|
rs370420091 CA4722409 |
455 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA371029393 rs1356397177 |
456 | P>L | No |
gnomAD ClinGen |
|
|
CA371029394 rs1356397177 |
456 | P>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
gnomAD ClinGen NCI-TCGA |
|
rs775846112 CA4722410 |
457 | E>K | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA371029402 rs1381034020 |
458 | C>S | No |
ClinGen gnomAD |
|
|
rs1454858168 CA371029407 |
458 | C>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA371029413 rs1585578043 |
459 | D>A | No |
Ensembl ClinGen |
|
|
CA4722412 rs764211109 |
460 | I>V | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs553737738 CA4722414 |
461 | A>T | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
CA4722415 rs766440394 |
463 | N>I | No |
ExAC gnomAD ClinGen |
|
|
rs7845771 CA371029470 |
467 | T>I | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA371029469 rs7845771 |
467 | T>N | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
VAR_051591 CA4722416 rs7845771 |
467 | T>S | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs7845771 | 467 | T>T | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA371029479 rs1261248934 |
469 | P>S | No |
gnomAD ClinGen |
|
|
rs754842229 CA4722417 |
471 | C>Y | No |
ExAC gnomAD ClinGen |
|
|
rs1046471476 CA175215582 |
472 | G>R | No |
TOPMed ClinGen |
|
|
CA371029517 rs1247207999 |
475 | I>L | No |
ClinGen gnomAD |
|
|
CA371029518 rs1247207999 |
475 | I>V | No |
ClinGen gnomAD |
|
|
CA371029538 rs1564630434 |
478 | I>V | No |
ClinGen Ensembl |
|
|
rs1312411053 CA371029552 |
480 | G>R | No |
ClinGen TOPMed |
|
|
rs1421726511 CA371029567 |
482 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
gnomAD ClinGen NCI-TCGA |
|
rs780706629 CA4722419 |
482 | S>P | No |
ExAC gnomAD ClinGen |
|
|
CA371029574 rs1404474326 |
483 | C>Y | No |
TOPMed gnomAD ClinGen |
|
|
rs755737546 CA4722421 |
484 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs370289826 CA4722422 |
485 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA175215594 rs769085754 |
486 | N>I | No |
ClinGen Ensembl |
|
|
CA4722423 rs541401129 |
487 | K>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4722424 rs771402109 |
487 | K>M | No |
ExAC gnomAD ClinGen |
|
|
CA4722426 rs746212636 |
488 | F>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371029604 rs1362030426 |
488 | F>I | No |
gnomAD ClinGen |
|
|
CA371029623 rs1280823564 |
490 | C>F | No |
ClinGen gnomAD |
|
|
CA4722427 rs772542905 |
492 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 492 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA371029642 rs777143871 |
493 | G>* | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA4722429 rs777143871 |
493 | G>R | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs374870426 CA4722430 |
494 | D>E | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs368430470 CA4722431 |
495 | C>Y | No |
ClinGen ESP ExAC gnomAD |
|
|
rs762034708 CA4722432 |
496 | H>R | No |
ExAC gnomAD ClinGen |
|
|
rs371557197 CA175215612 |
496 | H>Y | No |
ClinGen ESP TOPMed |
|
|
CA4722433 rs766387368 |
497 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1475874348 CA371029666 |
497 | D>N | No |
gnomAD ClinGen |
|
|
CA371029676 rs1427330582 |
498 | L>P | No |
gnomAD ClinGen |
|
|
rs751583001 CA371029691 |
500 | A>E | No |
ClinGen ExAC gnomAD |
|
|
rs751583001 CA4722434 |
500 | A>V | No |
ExAC gnomAD ClinGen |
|
|
rs767287185 CA4722436 |
501 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
rs762485084 COSM2152039 CA4722437 |
501 | R>H | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA175215627 rs1005413061 |
506 | F>S | No |
Ensembl ClinGen |
|
| TCGA novel | 507 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA175803292 rs760126672 |
509 | G>A | No |
ClinGen TOPMed |
|
|
CA371029749 rs1345356198 |
509 | G>C | No |
ClinGen gnomAD |
|
|
rs1333862291 CA371140212 |
510 | S>L | No |
ClinGen gnomAD |
|
|
CA371140198 rs1585600104 |
510 | S>T | No |
Ensembl ClinGen |
|
|
rs773179484 CA4722451 |
511 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs201876332 CA4722452 |
512 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1245498260 CA371140272 |
513 | A>G | No |
gnomAD ClinGen |
|
|
CA175803293 rs890124603 |
513 | A>T | No |
gnomAD ClinGen |
|
|
rs1289948477 CA371140291 |
514 | P>L | No |
TOPMed gnomAD ClinGen |
|
| TCGA novel | 516 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA371140315 rs1361862452 |
516 | A>S | No |
TOPMed gnomAD ClinGen |
|
|
rs1361862452 CA371140318 |
516 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
TOPMed gnomAD ClinGen NCI-TCGA |
|
rs1313877555 CA371140324 |
516 | A>V | No |
ClinGen TOPMed |
|
|
CA4722455 rs760500167 |
517 | C>F | No |
ClinGen ExAC gnomAD |
|
|
rs775310529 CA4722454 |
517 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763727780 CA4722456 |
518 | Y>C | No |
ExAC gnomAD ClinGen |
|
|
CA371140401 rs753543777 |
520 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA4722457 rs753543777 |
520 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs764736141 CA371140514 |
524 | Q>H | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA175803294 rs1017275890 |
524 | Q>P | No |
ClinGen TOPMed |
|
|
CA175803295 COSM1635786 rs372106289 |
525 | S>* | liver [Cosmic] | No |
ESP ExAC TOPMed gnomAD ClinGen cosmic curated |
|
rs372106289 CA4722460 |
525 | S>L | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs1424928708 CA371140593 |
528 | F>S | No |
gnomAD ClinGen |
|
|
CA371140656 rs1449677012 |
532 | G>D | No |
ClinGen TOPMed |
|
|
COSM1635787 CA371140665 rs1361378320 |
533 | R>G | liver [Cosmic] | No |
TOPMed ClinGen cosmic curated |
|
CA371140680 rs1393044548 COSM1099730 |
534 | D>N | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1393044548 CA371140682 |
534 | D>Y | No |
ClinGen gnomAD |
|
|
rs1329530874 CA371140694 |
535 | R>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
gnomAD ClinGen NCI-TCGA |
|
rs1381759565 CA371140700 |
535 | R>T | No |
gnomAD ClinGen |
|
|
CA371140720 rs1385196152 |
536 | N>K | No |
gnomAD ClinGen |
|
|
CA371140716 rs1316904852 |
536 | N>S | No |
gnomAD ClinGen |
|
|
CA4722463 rs780473901 |
537 | N>D | No |
ExAC gnomAD ClinGen |
|
|
CA371140730 rs1177491876 |
537 | N>S | No |
TOPMed ClinGen |
|
|
rs1585600516 CA371140737 |
538 | K>Q | No |
ClinGen Ensembl |
|
|
CA371140767 rs1337587203 |
539 | Y>* | No |
TOPMed gnomAD ClinGen |
|
|
rs1198074424 CA371140779 |
540 | V>L | No |
ClinGen gnomAD |
|
|
rs1198074424 CA371140773 |
540 | V>M | No |
gnomAD ClinGen |
|
|
CA4722465 rs755461733 |
542 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs953022194 CA175803296 |
544 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
gnomAD ClinGen NCI-TCGA |
|
rs371168174 CA4722494 |
548 | I>T | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs1313297826 CA371141164 |
548 | I>V | No |
gnomAD ClinGen |
|
|
rs1354365463 CA371141181 |
549 | C>R | No |
ClinGen TOPMed |
|
|
rs777910677 CA4722495 |
549 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA371141212 rs1486618832 |
550 | G>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 551 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA371141256 rs1293764996 |
552 | L>F | No |
TOPMed ClinGen |
|
|
rs749379276 CA4722496 |
554 | C>Y | No |
ExAC gnomAD ClinGen |
|
|
CA175803484 rs994584677 |
555 | T>I | No |
TOPMed gnomAD ClinGen |
|
|
CA371141325 rs1429842833 |
558 | T>I | No |
ClinGen gnomAD |
|
|
rs1156619455 CA371141326 |
559 | R>* | No |
gnomAD ClinGen |
|
|
rs199669397 COSM259318 CA4722497 |
559 | R>Q | large_intestine small_intestine [Cosmic] | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen cosmic curated |
|
rs1585605502 CA371141358 |
561 | P>R | No |
Ensembl ClinGen |
|
|
rs779060463 CA4722498 |
561 | P>T | No |
ExAC gnomAD ClinGen |
|
|
CA371141391 rs1365034599 |
562 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs746880485 CA4722499 |
563 | H>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 565 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs768609584 CA4722500 |
566 | N>S | No |
ExAC ClinGen |
|
|
rs201584915 CA4722502 |
567 | G>S | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA4722504 rs375936377 |
574 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs544708309 CA4722505 |
575 | R>* | Variant assessed as Somatic; 0.0007921 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs536001133 COSM278629 CA4722506 |
575 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs751121452 CA4722507 |
576 | D>H | No |
ExAC TOPMed gnomAD ClinGen |
|
| TCGA novel | 576 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA371141685 rs1246818213 |
577 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA4722508 rs760082509 |
578 | V>E | No |
ClinGen ExAC |
|
|
rs768163907 CA4722510 |
579 | C>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768163907 CA371141716 |
579 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4722509 rs768163907 |
579 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4722512 rs778038493 |
580 | I>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761273070 CA4722511 |
580 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753945207 CA4722513 |
581 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs754055561 CA175803487 |
581 | T>S | No |
ClinGen Ensembl |
|
|
CA371141765 rs569444981 |
582 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs569444981 CA4722515 |
582 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1422995200 CA371141796 |
583 | D>E | No |
gnomAD ClinGen |
|
|
rs745966778 CA4722516 |
583 | D>G | No |
ClinGen ExAC |
|
|
CA371141836 rs1165502083 |
585 | K>R | No |
ClinGen gnomAD |
|
|
CA371141861 rs1350578418 |
586 | L>F | No |
ClinGen gnomAD |
|
|
rs768556542 CA4722517 |
588 | R>* | No |
ExAC gnomAD ClinGen |
|
|
CA4722518 rs114068623 COSM3432420 |
588 | R>Q | large_intestine [Cosmic] | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen cosmic curated |
|
CA371141895 rs1314821691 |
590 | V>L | No |
gnomAD ClinGen |
|
|
CA371141909 rs1380071454 |
591 | P>T | No |
ClinGen gnomAD |
|
| TCGA novel | 592 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4722520 rs769536164 |
592 | D>V | No |
ExAC gnomAD ClinGen |
|
|
CA4722521 rs377483296 |
593 | P>L | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs1202354217 CA371141949 |
594 | L>P | No |
ClinGen gnomAD |
|
|
CA175803488 rs923272090 |
595 | A>P | No |
ClinGen TOPMed |
|
|
CA371141953 rs923272090 |
595 | A>T | No |
TOPMed ClinGen |
|
|
rs762447443 CA4722522 |
595 | A>V | No |
ExAC gnomAD ClinGen |
|
|
CA175803490 rs200605539 |
596 | V>G | No |
Ensembl ClinGen |
|
|
CA175803491 rs772829278 |
598 | N>S | No |
ClinGen Ensembl |
|
|
rs1458172005 CA371142014 |
600 | S>P | No |
ClinGen gnomAD |
|
|
CA371142036 rs1230632071 |
601 | Q>H | No |
ClinGen TOPMed |
|
|
rs1182694587 CA371142032 |
601 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1241069855 CA371142076 |
604 | I>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1241069855 CA371142077 |
604 | I>T | No |
TOPMed gnomAD ClinGen |
|
|
CA4722533 rs757370149 |
608 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1308342915 CA371144790 |
610 | N>I | No |
gnomAD ClinGen |
|
|
rs957652162 CA175804870 COSM3648994 |
611 | R>C | Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] | No |
TOPMed gnomAD ClinGen cosmic curated NCI-TCGA |
|
CA4722534 rs199914358 |
611 | R>H | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
CA4722535 rs199914358 |
611 | R>P | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
rs957652162 CA371144798 |
611 | R>S | No |
TOPMed gnomAD ClinGen |
|
| TCGA novel | 617 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA371144903 CA4722536 rs758539385 |
618 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs1478423460 CA371144917 |
618 | I>M | No |
ClinGen gnomAD |
|
|
rs758539385 CA371144904 |
618 | I>V | No |
ExAC gnomAD ClinGen |
|
|
CA4722538 rs142346085 |
621 | A>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA175804872 rs762334521 |
621 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA371144967 rs762334521 |
621 | A>T | No |
TOPMed gnomAD ClinGen |
|
|
CA4722537 COSM3779222 rs142346085 |
621 | A>V | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen cosmic curated NCI-TCGA |
|
rs1335295431 CA371145013 |
624 | H>Y | No |
ClinGen gnomAD |
|
|
rs370296973 CA4722539 |
625 | V>D | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA371145045 rs1290079613 COSM1644365 |
626 | C>F | salivary_gland [Cosmic] | No |
gnomAD ClinGen cosmic curated |
|
rs1290079613 CA371145041 |
626 | C>Y | No |
gnomAD ClinGen |
|
|
CA371145051 rs1340647781 |
627 | S>P | No |
gnomAD ClinGen |
|
|
rs1445851968 CA371145065 |
628 | Q>* | No |
ClinGen TOPMed |
|
| TCGA novel | 629 | Q>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4722543 rs774190637 |
631 | S>F | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs774190637 CA175804875 |
631 | S>Y | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs940377883 CA175804876 |
632 | G>A | No |
ClinGen TOPMed |
|
|
rs1446608693 CA371145137 |
633 | H>R | No |
ClinGen gnomAD |
|
|
CA4722544 rs745370857 |
633 | H>Y | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs150114293 CA4722545 |
634 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4722559 rs755958581 |
635 | V>E | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA371147107 rs1161088426 |
635 | V>L | No |
gnomAD ClinGen |
|
|
CA371147124 rs1328178468 |
636 | C>R | No |
gnomAD ClinGen |
|
|
CA371147131 rs1333915519 |
636 | C>Y | No |
gnomAD ClinGen |
|
|
rs777818601 CA4722560 |
637 | D>E | No |
ClinGen ExAC |
|
|
rs1444038889 CA371147195 |
639 | R>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
gnomAD ClinGen NCI-TCGA |
|
CA371147234 rs1309747361 |
641 | K>N | No |
gnomAD ClinGen |
|
|
CA4722561 rs749009015 |
642 | C>Y | No |
ExAC gnomAD ClinGen |
|
|
rs757189886 CA4722562 COSM1099734 |
645 | S>L | Variant assessed as Somatic; 0.0 impact. central_nervous_system endometrium [NCI-TCGA, Cosmic] | No |
ExAC TOPMed gnomAD ClinGen cosmic curated NCI-TCGA |
|
rs771879671 CA4722565 |
646 | P>L | No |
ClinGen ExAC |
|
|
CA4722566 rs774811820 |
647 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA4722568 rs769011112 |
648 | Y>* | No |
ExAC gnomAD ClinGen |
|
|
rs746575841 CA4722567 |
648 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA371147347 rs1239204420 |
649 | K>E | No |
ClinGen gnomAD |
|
|
CA175805749 rs1021850339 |
650 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs777261468 CA4722569 |
651 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1472803470 CA371147425 |
656 | R>C | No |
ClinGen gnomAD |
|
|
CA4722570 rs199517433 |
656 | R>H | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs1472803470 CA371147424 |
656 | R>S | No |
ClinGen gnomAD |
|
|
CA175805751 CA4722573 rs13277386 VAR_055244 |
658 | K>N | No |
ClinGen ESP ExAC gnomAD UniProt dbSNP |
|
|
CA4722572 rs773571375 |
658 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs766436330 CA175805752 COSM1099736 |
659 | G>E | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
TOPMed gnomAD ClinGen cosmic curated NCI-TCGA |
|
CA4722576 rs371668554 |
662 | I>T | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA4722575 rs751571313 |
662 | I>V | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs755051358 CA4722577 |
663 | F>I | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs753874993 CA4722578 |
664 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1276012800 CA371147487 |
665 | E>K | No |
ClinGen TOPMed |
|
|
rs1331286641 CA371147507 |
667 | D>G | No |
gnomAD ClinGen |
|
|
CA371147505 rs1221045670 |
667 | D>Y | No |
ClinGen gnomAD |
|
|
rs987595081 CA175805753 |
668 | M>I | No |
ClinGen Ensembl |
|
|
CA4722580 rs77250406 |
668 | M>T | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA371148103 rs1466724520 |
669 | G>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
gnomAD ClinGen NCI-TCGA |
|
CA371148109 rs1158279069 |
670 | S>L | No |
gnomAD ClinGen |
|
|
CA371148113 rs1358867727 |
671 | I>N | No |
ClinGen gnomAD |
|
|
CA4722613 rs751157331 |
674 | R>T | No |
ExAC gnomAD ClinGen |
|
|
rs1303837599 CA371148143 |
675 | A>E | No |
ClinGen gnomAD |
|
|
rs754599948 CA4722614 |
676 | S>F | No |
ExAC gnomAD ClinGen |
|
|
CA371148152 rs1391205578 |
677 | G>R | No |
ClinGen gnomAD |
|
|
CA371148164 rs1237866711 |
678 | K>N | No |
ClinGen gnomAD |
|
|
CA175806019 rs925480713 |
679 | T>P | No |
ClinGen TOPMed |
|
|
CA371148204 rs1404327354 |
682 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
TOPMed gnomAD ClinGen NCI-TCGA |
|
rs780703397 CA4722615 |
682 | T>P | No |
ExAC gnomAD ClinGen |
|
|
CA4722616 rs747687445 |
683 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA4722617 rs770253316 |
684 | L>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 685 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4722618 rs372255184 |
687 | F>C | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
| TCGA novel | 688 | L>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA371148275 rs1435164945 |
689 | I>V | No |
ClinGen gnomAD |
|
|
CA371148293 rs1440035436 |
691 | L>F | No |
Ensembl ClinGen |
|
|
CA4722619 rs201527858 |
693 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1418223272 CA371148327 |
694 | L>V | No |
ClinGen gnomAD |
|
|
rs1179412934 CA371148349 |
696 | V>L | No |
TOPMed gnomAD ClinGen |
|
|
rs774579153 CA4722621 |
698 | T>I | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA371148379 COSM1742360 rs772218233 |
699 | A>S | urinary_tract [Cosmic] | No |
ExAC TOPMed gnomAD ClinGen cosmic curated |
|
rs772218233 CA4722623 |
699 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1456824498 CA371148393 |
700 | I>T | No |
ClinGen gnomAD |
|
|
CA371148390 rs1365085286 |
700 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 701 | V>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4722624 rs775683689 |
701 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1368926721 CA371148407 |
702 | L>M | No |
gnomAD ClinGen |
|
|
CA371148413 rs1391125530 |
702 | L>S | No |
gnomAD ClinGen |
|
|
CA371148421 rs1286248568 |
703 | A>S | No |
ClinGen gnomAD |
|
| TCGA novel | 708 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1378607561 CA371148495 |
709 | K>E | No |
ClinGen gnomAD |
|
|
COSM1181814 rs1313708198 CA371148524 |
710 | W>C | large_intestine [Cosmic] | No |
gnomAD ClinGen cosmic curated |
|
CA371148511 rs1240476654 |
710 | W>R | No |
gnomAD ClinGen |
|
|
CA4722627 rs765253891 |
711 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA371148541 rs567412717 |
712 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs567412717 CA4722629 |
712 | A>T | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
rs1287964438 CA371148555 |
713 | K>* | No |
ClinGen gnomAD |
|
| TCGA novel | 714 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1196480911 CA371148582 |
715 | E>* | No |
TOPMed gnomAD ClinGen |
|
|
rs376603490 CA4722632 |
715 | E>D | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs1196480911 CA371148581 |
715 | E>Q | No |
TOPMed gnomAD ClinGen |
|
|
CA4722633 rs369133947 |
716 | E>V | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA371148608 rs1179554611 |
717 | F>L | No |
gnomAD ClinGen |
|
|
CA4722635 rs752179563 |
717 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778245731 CA4722636 |
718 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs749724574 CA4722637 |
719 | S>G | No |
ExAC gnomAD ClinGen |
|
| rs372708183 | 720 | S>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4722638 rs757713976 |
720 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA4722640 rs372708183 |
720 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs774478038 CA175807472 |
721 | E>D | No |
TOPMed gnomAD ClinGen |
|
|
rs199764156 CA4722641 |
721 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4722663 rs758758413 |
724 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs747171895 CA4722665 |
726 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA371150654 rs1013358998 |
727 | S>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1013358998 CA175807473 |
727 | S>T | No |
ClinGen gnomAD |
|
|
CA371150685 rs1168063545 |
729 | Q>* | No |
TOPMed ClinGen |
|
|
rs1265913577 CA371150712 |
731 | Y>H | No |
gnomAD ClinGen |
|
|
rs770877824 CA4722669 |
732 | A>P | No |
ExAC gnomAD ClinGen |
|
|
rs774211989 CA4722670 |
732 | A>V | No |
ExAC gnomAD ClinGen |
|
|
rs1423566222 CA371150745 |
733 | S>G | No |
gnomAD ClinGen |
|
|
rs1415804570 CA371150755 |
733 | S>I | No |
ClinGen gnomAD |
|
| TCGA novel | 733 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA175807474 rs868793917 |
734 | Q>* | No |
ClinGen gnomAD |
|
|
CA371150767 rs868793917 |
734 | Q>E | No |
ClinGen gnomAD |
|
|
rs1311535244 CA371151800 |
740 | S>N | No |
gnomAD ClinGen |
|
|
CA4722690 COSM1099740 rs368731200 |
743 | T>A | endometrium [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs1288276135 CA371151853 |
744 | Y>H | No |
TOPMed gnomAD ClinGen |
|
|
CA371151864 rs772015248 |
745 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA4722691 rs772015248 |
745 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA4722692 rs775238266 |
745 | A>V | No |
ExAC gnomAD ClinGen |
|
|
rs200400990 CA4722693 |
746 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA175807814 rs977591892 |
747 | Q>R | No |
TOPMed gnomAD ClinGen |
|
|
CA371151976 rs575773128 |
748 | T>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs575773128 CA4722709 |
748 | T>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs78334329 CA4722710 |
753 | S>N | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs1184740702 CA371152080 |
755 | Q>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
TOPMed gnomAD ClinGen NCI-TCGA |
|
CA175807985 rs1020309518 |
756 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs758313679 CA4722711 |
757 | D>N | No |
ExAC gnomAD ClinGen |
|
|
rs183670899 CA4722712 |
758 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs183670899 CA371152126 |
758 | T>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA371152133 rs1169960987 |
759 | S>N | No |
ClinGen gnomAD |
|
|
rs369296890 CA4722713 |
759 | S>R | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs1211142677 CA371153755 |
763 | S>* | No |
TOPMed ClinGen |
|
|
rs1194082023 CA371153768 |
764 | E>V | No |
gnomAD ClinGen |
|
|
rs1465723011 CA371153786 |
765 | D>E | No |
TOPMed gnomAD ClinGen |
|
|
CA371153784 rs1376911693 |
765 | D>G | No |
gnomAD ClinGen |
|
|
CA371153795 rs1272978575 |
766 | S>N | No |
ClinGen TOPMed |
|
|
rs1404628874 CA371153811 |
767 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
CA175808571 rs764534580 |
772 | S>G | No |
ClinGen Ensembl |
|
|
CA371153955 rs1266421549 |
773 | R>S | No |
TOPMed ClinGen |
|
|
CA4722731 rs377111064 |
775 | K>I | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA4722732 rs746892922 |
777 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs28705715 CA4722733 VAR_061739 |
778 | D>E | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA175808794 rs867346535 |
779 | S>N | No |
Ensembl ClinGen |
|
|
CA4722734 rs780809307 |
782 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371154037 rs1239047277 |
785 | S>T | No |
gnomAD ClinGen |
|
|
CA371154043 rs1384985754 |
786 | S>N | No |
TOPMed ClinGen |
|
|
rs202021258 CA4722748 |
786 | S>R | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA4722749 rs765254041 |
788 | N>Q | No |
ClinGen ExAC gnomAD |
No associated diseases with Q8TC27
No regional properties for Q8TC27
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q8TC27 | |||
1 GO annotations of cellular component
| Name | Definition |
|---|---|
| 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. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| metalloendopeptidase activity | Catalysis of the hydrolysis of internal, alpha-peptide bonds in a polypeptide chain by a mechanism in which water acts as a nucleophile, one or two metal ions hold the water molecule in place, and charged amino acid side chains are ligands for the metal ions. |
3 GO annotations of biological process
| Name | Definition |
|---|---|
| binding of sperm to zona pellucida | The process in which the sperm binds to the zona pellucida glycoprotein layer of the egg. The process begins with the attachment of the sperm plasma membrane to the zona pellucida and includes attachment of the acrosome inner membrane to the zona pellucida after the acrosomal reaction takes place. |
| cell adhesion | The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules. |
| proteolysis | The hydrolysis of proteins into smaller polypeptides and/or amino acids by cleavage of their peptide bonds. |
5 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| O43506 | ADAM20 | Disintegrin and metalloproteinase domain-containing protein 20 | Homo sapiens (Human) | PR |
| Q99965 | ADAM2 | Disintegrin and metalloproteinase domain-containing protein 2 | Homo sapiens (Human) | PR |
| Q9UKF2 | ADAM30 | Disintegrin and metalloproteinase domain-containing protein 30 | Homo sapiens (Human) | PR |
| Q9H013 | ADAM19 | Disintegrin and metalloproteinase domain-containing protein 19 | Homo sapiens (Human) | PR |
| O35674 | Adam19 | Disintegrin and metalloproteinase domain-containing protein 19 | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MFRLWLLLAG | LCGLLASRPG | FQNSLLQIVI | PEKIQTNTND | SSEIEYEQIS | YIIPIDEKLY |
| 70 | 80 | 90 | 100 | 110 | 120 |
| TVHLKQRYFL | ADNFMIYLYN | QGSMNTYSSD | IQTQCYYQGN | IEGYPDSMVT | LSTCSGLRGI |
| 130 | 140 | 150 | 160 | 170 | 180 |
| LQFENVSYGI | EPLESAVEFQ | HVLYKLKNED | NDIAIFIDRS | LKEQPMDDNI | FISEKSEPAV |
| 190 | 200 | 210 | 220 | 230 | 240 |
| PDLFPLYLEM | HIVVDKTLYD | YWGSDSMIVT | NKVIEIVGLA | NSMFTQFKVT | IVLSSLELWS |
| 250 | 260 | 270 | 280 | 290 | 300 |
| DENKISTVGE | ADELLQKFLE | WKQSYLNLRP | HDIAYLLIYM | DYPRYLGAVF | PGTMCITRYS |
| 310 | 320 | 330 | 340 | 350 | 360 |
| AGVALYPKEI | TLEAFAVIVT | QMLALSLGIS | YDDPKKCQCS | ESTCIMNPEV | VQSNGVKTFS |
| 370 | 380 | 390 | 400 | 410 | 420 |
| SCSLRSFQNF | ISNVGVKCLQ | NKPQMQKKSP | KPVCGNGRLE | GNEICDCGTE | AQCGPASCCD |
| 430 | 440 | 450 | 460 | 470 | 480 |
| FRTCVLKDGA | KCYKGLCCKD | CQILQSGVEC | RPKAHPECDI | AENCNGTSPE | CGPDITLING |
| 490 | 500 | 510 | 520 | 530 | 540 |
| LSCKNNKFIC | YDGDCHDLDA | RCESVFGKGS | RNAPFACYEE | IQSQSDRFGN | CGRDRNNKYV |
| 550 | 560 | 570 | 580 | 590 | 600 |
| FCGWRNLICG | RLVCTYPTRK | PFHQENGDVI | YAFVRDSVCI | TVDYKLPRTV | PDPLAVKNGS |
| 610 | 620 | 630 | 640 | 650 | 660 |
| QCDIGRVCVN | RECVESRIIK | ASAHVCSQQC | SGHGVCDSRN | KCHCSPGYKP | PNCQIRSKGF |
| 670 | 680 | 690 | 700 | 710 | 720 |
| SIFPEEDMGS | IMERASGKTE | NTWLLGFLIA | LPILIVTTAI | VLARKQLKKW | FAKEEEFPSS |
| 730 | 740 | 750 | 760 | 770 | 780 |
| ESKSEGSTQT | YASQSSSEGS | TQTYASQTRS | ESSSQADTSK | SKSEDSAEAY | TSRSKSQDST |
| QTQSSSN |