Q9BQK8
PR
Gene name |
LPIN3 |
Protein name |
Phosphatidate phosphatase LPIN3 |
Names |
Lipin-3, Lipin-3-like |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:64900 |
EC number |
3.1.3.4: Phosphoric monoester hydrolases |
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 Q9BQK8
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9BQK8-F1 | Predicted | AlphaFoldDB |
741 variants for Q9BQK8
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA9860197 rs772358991 |
3 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA409037635 rs146667115 |
4 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs146667115 CA9860199 |
4 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs772847019 CA9860201 |
8 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9860204 rs766319923 |
10 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs144051050 CA9860205 |
10 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM443828 CA9860208 rs140565889 |
14 | T>M | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1287233397 CA409037761 |
14 | T>P | No |
ClinGen TOPMed |
|
|
CA9860212 rs75620173 RCV000963206 |
20 | R>Q | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs150453522 CA9860211 |
20 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9860213 rs779438805 |
23 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1600711017 CA409037821 |
23 | N>T | No |
ClinGen Ensembl |
|
|
CA9860214 rs201526389 |
24 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 28 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9860215 rs772509983 |
29 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1477945241 CA409037890 |
30 | G>S | No |
ClinGen gnomAD |
|
|
rs1416385344 CA409037909 |
31 | I>T | No |
ClinGen TOPMed |
|
|
CA409037935 rs767734329 |
33 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767734329 CA9860218 |
33 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199630486 CA9860219 |
34 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765836868 CA9860222 |
36 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA9860223 rs545382844 |
39 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs545382844 CA314516885 |
39 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs377187175 CA9860224 |
40 | D>G | No |
ClinGen ESP ExAC gnomAD |
|
|
rs188502586 CA9860226 |
41 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA409038041 rs1452005192 |
41 | G>V | No |
ClinGen TOPMed |
|
|
rs1274805529 COSM1751457 CA409038054 |
42 | S>L | Variant assessed as Somatic; impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs201841300 CA9860230 |
44 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9860229 rs138855546 |
44 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9860232 rs142640782 |
46 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9860231 rs778876096 |
46 | S>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 47 | P>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1437422984 CA409038141 |
49 | H>R | No |
ClinGen TOPMed |
|
|
CA9860236 rs373805814 |
50 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373805814 CA9860237 |
50 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs748896618 CA9860238 |
51 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs770415979 CA9860239 |
51 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773719321 CA9860240 |
52 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1410318299 CA409038223 |
56 | G>D | No |
ClinGen gnomAD |
|
|
rs201955942 CA9860244 |
57 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs760410304 CA9860246 |
58 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
CA9860248 rs139051268 |
59 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9860247 rs763885142 |
59 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765565818 COSM175257 CA9860250 |
60 | S>L | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA409038274 rs780659323 |
61 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780659323 CA9860253 |
61 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs41277016 CA9860252 |
61 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9860255 rs755326841 |
64 | V>L | No |
ClinGen ExAC TOPMed |
|
|
CA409038557 rs1448479094 |
66 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA314521133 rs377246516 |
67 | I>F | No |
ClinGen ESP TOPMed |
|
|
CA9860277 rs752971859 |
67 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA314521130 rs377246516 |
67 | I>V | No |
ClinGen ESP TOPMed |
|
|
rs778377055 CA409038583 |
70 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409038584 rs1302203160 |
70 | N>K | No |
ClinGen gnomAD |
|
|
CA9860279 rs778377055 |
70 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9860280 rs368535082 |
71 | G>R | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 72 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA314521153 rs1036731544 |
73 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA314521151 rs944846925 |
73 | P>T | No |
ClinGen Ensembl |
|
|
rs757849742 CA9860281 |
77 | H>N | No |
ClinGen ExAC gnomAD |
|
|
CA409038626 rs1175927262 |
77 | H>P | No |
ClinGen TOPMed |
|
|
rs779529691 CA9860282 |
78 | M>K | No |
ClinGen ExAC TOPMed |
|
|
CA9860283 rs746590635 |
80 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1295619422 CA409038663 |
82 | D>V | No |
ClinGen gnomAD |
|
|
CA9860284 rs768449216 |
83 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409038669 rs1228526878 |
83 | S>I | No |
ClinGen gnomAD |
|
|
CA409038668 rs1228526878 |
83 | S>N | No |
ClinGen gnomAD |
|
|
rs372754428 CA9860286 |
84 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1263197542 CA409038693 |
87 | F>L | No |
ClinGen TOPMed |
|
|
CA409038699 rs1480191639 |
87 | F>L | No |
ClinGen gnomAD |
|
|
rs769662512 CA9860287 |
92 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA9860289 rs141757517 |
95 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1027546511 CA314521168 |
95 | D>G | No |
ClinGen Ensembl |
|
|
CA409038763 rs1186302765 |
95 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs766766076 CA9860290 |
96 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1019731039 CA314521651 |
97 | E>K | No |
ClinGen Ensembl |
|
|
CA409038943 rs1172198927 |
98 | H>D | No |
ClinGen TOPMed |
|
|
CA9860318 rs765968571 |
98 | H>L | No |
ClinGen ExAC gnomAD |
|
|
CA314521658 rs756682096 |
101 | P>T | No |
ClinGen TOPMed |
|
|
rs780768723 CA9860322 |
102 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780768723 CA9860321 |
102 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409040219 rs1180156090 |
105 | T>I | No |
ClinGen gnomAD |
|
|
rs1452902487 CA409040209 |
105 | T>P | No |
ClinGen TOPMed |
|
|
CA314521673 rs905101589 |
106 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
CA409040242 rs756072581 |
107 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs756072581 CA9860323 |
107 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA314521691 rs1026413207 |
107 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA409040265 rs777896999 |
109 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9860324 rs777896999 |
109 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9860329 rs150562240 |
110 | W>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9860328 CA409040279 rs150562240 |
110 | W>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs546459459 CA9860327 |
110 | W>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9860330 rs746104657 |
111 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA314521717 rs749698852 |
112 | G>C | No |
ClinGen Ensembl |
|
|
rs775637798 CA9860332 COSM3939351 |
112 | G>D | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
| rs756955559 | 112 | G>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs775637798 CA9860333 |
112 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs756955559 | 113 | L>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9860334 rs769132928 |
117 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA9860335 rs139894820 |
118 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA409040404 rs1600718516 |
119 | D>A | No |
ClinGen Ensembl |
|
|
CA409040418 rs1209737817 |
119 | D>E | No |
ClinGen gnomAD |
|
|
CA409040457 rs141862610 |
121 | Q>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs141862610 CA9860336 |
121 | Q>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA314521734 rs748126114 |
124 | T>S | No |
ClinGen Ensembl |
|
|
rs1481927603 CA409040515 |
125 | A>T | No |
ClinGen gnomAD |
|
|
rs1192324127 CA409040530 |
126 | S>G | No |
ClinGen TOPMed |
|
|
CA9860338 rs376286443 |
127 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1185336037 CA409040587 |
128 | P>A | No |
ClinGen TOPMed |
|
|
CA314521738 rs6102365 |
128 | P>L | No |
ClinGen Ensembl |
|
|
rs751116885 CA9860339 |
131 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs146262637 CA9860341 |
132 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA409040664 rs1446643407 |
133 | M>V | No |
ClinGen gnomAD |
|
|
rs755733851 CA9860343 |
135 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752218215 CA9860342 |
135 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9860345 rs199764930 |
136 | T>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9860344 rs199764930 |
136 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9860347 rs143977683 |
137 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs561807012 CA314521772 |
137 | A>V | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1414387761 CA409040776 |
138 | S>F | No |
ClinGen TOPMed |
|
|
CA9860349 rs144966596 |
141 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs745720559 CA9860348 |
141 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA314521783 rs943822507 |
144 | R>K | No |
ClinGen Ensembl |
|
|
COSM1582450 CA9860351 rs200695615 |
145 | R>C | stomach [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs201236014 CA9860352 |
145 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201236014 CA409040928 |
145 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201395513 CA9860353 |
146 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201395513 CA314521797 |
146 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1209564201 CA409041000 |
150 | P>T | No |
ClinGen gnomAD |
|
|
rs1026506516 CA314521807 |
154 | E>D | No |
ClinGen Ensembl |
|
|
rs770345254 CA9860357 |
155 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA409041130 rs1389713877 |
155 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA9860358 rs773619982 |
156 | A>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 157 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763265001 CA9860359 |
157 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs200713042 CA9860360 |
158 | A>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9860361 rs775026698 |
159 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1360411872 CA409041235 |
160 | D>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1452652993 CA409041276 |
161 | S>C | No |
ClinGen gnomAD |
|
|
rs760219305 CA9860362 |
162 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs888059975 CA314521826 |
162 | S>T | No |
ClinGen Ensembl |
|
|
CA9860364 rs753767202 |
164 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA409041357 rs1437079089 |
164 | E>K | No |
ClinGen gnomAD |
|
|
rs1034304300 CA314521852 |
166 | L>P | No |
ClinGen Ensembl |
|
|
CA409041402 rs1600719111 |
166 | L>V | No |
ClinGen Ensembl |
|
|
CA409041461 rs1217431589 |
168 | A>E | No |
ClinGen gnomAD |
|
|
CA409041476 rs1325767734 |
169 | G>D | No |
ClinGen gnomAD |
|
|
rs1280582244 CA409041466 |
169 | G>S | No |
ClinGen gnomAD |
|
|
rs750213752 CA314521862 |
170 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9860367 rs750213752 |
170 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA409041511 rs1320170286 |
171 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA409041548 rs1195832836 |
172 | S>G | No |
ClinGen gnomAD |
|
|
CA409041555 rs1243087116 |
172 | S>N | No |
ClinGen gnomAD |
|
|
rs1600719233 CA409041566 |
172 | S>R | No |
ClinGen Ensembl |
|
|
rs780286417 CA9860369 |
173 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA409041617 rs747237851 COSM3405079 |
175 | S>F | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs747237851 CA9860370 |
175 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
rs199523729 CA9860371 |
177 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs199523729 CA409041652 |
177 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9860373 rs748295240 |
178 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA9860374 rs770253392 |
180 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs77544371 CA9860375 |
181 | R>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1276617816 CA409041734 |
182 | P>L | No |
ClinGen gnomAD |
|
|
CA9860376 rs565848877 |
182 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs771230776 CA9860377 |
183 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA409041761 rs1224256540 |
184 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA9860378 rs775138391 |
184 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA409041757 rs1224256540 |
184 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs760413482 CA9860379 COSM222399 |
185 | P>S | skin [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs763894638 CA9860380 |
186 | G>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 187 | V>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs143795072 CA9860393 |
190 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9860394 rs771265914 |
191 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1379238523 CA409041933 |
191 | E>K | No |
ClinGen TOPMed |
|
|
rs1568996649 CA409041948 |
192 | K>* | No |
ClinGen Ensembl |
|
|
rs917816841 CA314522060 |
193 | S>P | No |
ClinGen TOPMed |
|
|
CA409041997 rs1265656101 |
194 | S>L | No |
ClinGen gnomAD |
|
|
CA9860395 rs146829341 |
196 | Q>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9860396 rs75823020 |
199 | D>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA409042116 rs1382401085 |
200 | I>T | No |
ClinGen gnomAD |
|
|
rs768404861 CA9860397 |
202 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA409042157 rs1329593460 |
202 | P>S | No |
ClinGen gnomAD |
|
|
rs776447845 CA9860398 |
203 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761370837 CA9860399 |
204 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs769195274 CA9860400 |
204 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs200900634 CA314522090 |
207 | E>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9860403 rs200900634 |
207 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs751326435 CA9860406 |
209 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA9860409 rs759374029 |
209 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759374029 CA9860408 |
209 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759374029 CA9860407 |
209 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409042498 rs1276113797 |
213 | S>C | No |
ClinGen TOPMed |
|
|
rs1456944847 CA409042724 |
215 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
CA9860431 rs779525857 |
217 | G>D | No |
ClinGen ExAC |
|
|
rs1199634107 CA409042761 |
217 | G>S | No |
ClinGen gnomAD |
|
|
CA9860433 rs758781896 |
221 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA314522493 rs147950317 |
221 | S>T | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs41277018 CA9860434 |
222 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9860435 rs542110634 |
225 | D>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs542110634 CA9860436 |
225 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs141578154 CA9860437 |
226 | S>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA409043011 rs1263183697 |
226 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
CA409043066 rs1262061283 |
227 | E>D | No |
ClinGen gnomAD |
|
|
rs1414543176 CA409043062 |
227 | E>G | No |
ClinGen gnomAD |
|
|
rs770457732 CA9860439 |
228 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9860440 rs774206487 |
229 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA9860442 rs772051812 |
231 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1533301 rs367858032 CA9860441 |
231 | R>W | lung [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs775139211 CA9860443 |
233 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1200015453 CA409043208 |
233 | P>S | No |
ClinGen gnomAD |
|
|
CA9860445 rs764197987 |
235 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1568998029 CA409043357 |
237 | P>A | No |
ClinGen Ensembl |
|
|
CA9860446 rs776946682 |
237 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs893919782 CA409043373 |
238 | L>P | No |
ClinGen gnomAD |
|
|
rs893919782 CA314522584 |
238 | L>Q | No |
ClinGen gnomAD |
|
|
rs1407330968 CA409043410 |
240 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs767034959 CA9860451 |
241 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs758970785 CA9860450 |
241 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA314522616 rs901047757 |
244 | M>K | No |
ClinGen gnomAD |
|
|
CA409043538 rs901047757 |
244 | M>T | No |
ClinGen gnomAD |
|
| TCGA novel | 245 | Q>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1320309118 CA409043563 |
245 | Q>L | No |
ClinGen TOPMed |
|
|
rs1282610150 CA409043608 |
246 | W>C | No |
ClinGen TOPMed |
|
|
CA409043639 rs1317120122 |
247 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
CA409043620 rs1402218873 |
247 | A>P | No |
ClinGen gnomAD |
|
|
CA409043644 rs1317120122 |
247 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1457245300 CA409043681 |
248 | W>C | No |
ClinGen Ensembl |
|
|
CA409043689 rs1336789487 |
249 | G>R | No |
ClinGen TOPMed |
|
|
CA409043698 rs1243849862 |
249 | G>V | No |
ClinGen gnomAD |
|
|
CA9860452 rs751849275 |
250 | R>M | No |
ClinGen ExAC gnomAD |
|
|
CA9860475 rs548482610 |
254 | V>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA409043966 rs1354625968 |
255 | A>T | No |
ClinGen gnomAD |
|
|
CA409043980 rs1220872536 |
255 | A>V | No |
ClinGen TOPMed |
|
|
rs745357001 CA9860476 |
256 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409043986 rs1334364718 |
256 | R>K | No |
ClinGen gnomAD |
|
|
rs1294185750 CA409044002 |
257 | A>T | No |
ClinGen TOPMed |
|
|
rs779791289 CA409044062 |
259 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9860478 rs779791289 |
259 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9860477 rs151029601 |
259 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs768537112 CA9860480 |
261 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781036502 CA9860481 |
261 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9860482 rs373067875 |
263 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9860483 rs770119965 |
264 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA409044240 rs1462801310 |
266 | L>R | No |
ClinGen gnomAD |
|
|
rs763084982 CA9860485 |
268 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1241920226 CA409044326 |
270 | A>T | No |
ClinGen gnomAD |
|
|
rs771045572 CA9860486 |
270 | A>V | No |
ClinGen ExAC TOPMed |
|
|
rs1304556565 CA409044351 |
271 | G>E | No |
ClinGen TOPMed |
|
|
rs1359656261 CA409044370 |
273 | T>A | No |
ClinGen TOPMed |
|
|
CA409044381 rs1420844665 |
273 | T>I | No |
ClinGen gnomAD |
|
|
rs1568998989 CA409044394 |
274 | S>A | No |
ClinGen Ensembl |
|
|
CA9860488 rs760073894 |
275 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs761074521 CA9860491 |
277 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA9860490 rs368976336 |
277 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9860493 rs750083927 |
278 | G>* | No |
ClinGen ExAC gnomAD |
|
|
CA409044504 rs1432551279 |
278 | G>E | No |
ClinGen gnomAD |
|
|
CA409044496 rs750083927 |
278 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1432551279 CA409044502 |
278 | G>V | No |
ClinGen gnomAD |
|
|
rs757849647 CA9860494 |
279 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757849647 CA9860495 |
279 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409044506 rs1270766412 |
279 | G>R | No |
ClinGen gnomAD |
|
|
rs1310493408 CA409044520 |
280 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA314522944 rs902248629 |
280 | P>R | No |
ClinGen TOPMed |
|
|
rs376040914 CA9860496 |
282 | T>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9860500 rs769744968 |
288 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs201799956 CA9860503 |
290 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9860506 rs772608582 |
291 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA409044745 rs1157638481 |
292 | D>G | No |
ClinGen gnomAD |
|
|
rs775997179 CA9860507 |
297 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1209021128 CA409044903 |
299 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1364691763 CA409044929 |
300 | Q>* | No |
ClinGen gnomAD |
|
|
CA9860509 rs764458000 |
301 | T>R | No |
ClinGen ExAC |
|
|
CA409045019 rs1304818834 |
303 | A>S | No |
ClinGen gnomAD |
|
|
CA409045021 rs1304818834 |
303 | A>T | No |
ClinGen gnomAD |
|
|
CA409045053 rs1347473302 |
304 | G>D | No |
ClinGen gnomAD |
|
|
CA9860511 rs762663037 |
305 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs1012674718 CA314523040 |
306 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs138688638 CA9860514 |
306 | D>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9860516 rs752683342 |
309 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs555614679 CA9860518 |
312 | E>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1180448663 CA409045301 |
313 | D>E | No |
ClinGen gnomAD |
|
|
rs1432604645 CA409045297 |
313 | D>V | No |
ClinGen TOPMed |
|
|
rs777694469 CA9860519 |
314 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA314523069 rs971104418 |
315 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA409045352 rs971104418 |
315 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
CA314523070 rs971104418 |
315 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs749157884 CA9860520 |
316 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9860521 rs757470494 |
319 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs772074840 CA9860524 |
320 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745911223 CA9860523 |
320 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs775921131 CA9860525 |
321 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs769218750 CA9860527 |
322 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1176741626 CA409045582 |
326 | T>A | No |
ClinGen Ensembl |
|
|
rs1280297785 CA409045595 |
327 | E>K | No |
ClinGen gnomAD |
|
|
rs113148371 CA9860529 |
328 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs575550193 CA9860530 |
330 | K>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs773909516 CA9860531 CA409045710 |
330 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9860532 rs759021294 |
331 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9860533 rs370993870 |
332 | Q>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1568999738 CA409045862 |
335 | G>A | No |
ClinGen Ensembl |
|
|
CA9860534 rs141715302 |
337 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1247834249 CA409045946 |
337 | M>V | No |
ClinGen gnomAD |
|
|
CA9860535 rs756113271 |
338 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409046038 rs1442613460 |
340 | P>S | No |
ClinGen gnomAD |
|
|
CA9860537 rs753645325 |
341 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1461451056 CA409046110 |
342 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA409046117 rs1264470851 |
343 | S>P | No |
ClinGen TOPMed |
|
|
CA314523177 rs961749759 |
344 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1411661322 CA409046224 |
347 | S>G | No |
ClinGen gnomAD |
|
|
rs544350479 CA9860540 |
348 | W>G | No |
ClinGen 1000Genomes ExAC |
|
|
rs1332370875 CA409046336 |
349 | A>D | No |
ClinGen gnomAD |
|
|
rs1382292627 CA409046343 |
350 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA9860542 rs61730990 |
355 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1381930058 CA409046523 |
357 | T>S | No |
ClinGen Ensembl |
|
|
CA9860544 rs141654128 |
358 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA314523211 rs1039810266 |
361 | E>G | No |
ClinGen Ensembl |
|
|
CA9860546 rs748509051 |
362 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA409046660 rs1448689007 |
362 | R>S | No |
ClinGen TOPMed |
|
|
CA409046738 rs1243549621 |
366 | G>A | No |
ClinGen gnomAD |
|
| rs1185012518 | 368 | G>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs771824484 CA9860571 |
378 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1393817187 CA409048097 COSM1411814 |
380 | D>G | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA409048094 rs1488465667 |
380 | D>H | No |
ClinGen gnomAD |
|
| TCGA novel | 381 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA409048161 rs1167161940 |
383 | L>P | No |
ClinGen TOPMed |
|
|
CA314523914 rs955977822 |
383 | L>V | No |
ClinGen gnomAD |
|
| TCGA novel | 384 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 384 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9860572 rs775303757 |
385 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs572385840 CA314523939 |
389 | L>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1268373811 CA409048239 |
389 | L>V | No |
ClinGen gnomAD |
|
|
rs776572000 CA9860575 |
390 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs765261416 CA9860577 |
391 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA409048312 rs1364234771 |
392 | E>D | No |
ClinGen gnomAD |
|
|
rs750163513 CA9860578 |
392 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA409048325 rs1406290794 |
393 | N>D | No |
ClinGen gnomAD |
|
|
rs762760386 CA9860579 |
394 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762760386 CA9860580 |
394 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9860583 rs754995106 |
395 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9860582 rs754995106 |
395 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA409048357 rs971748478 |
396 | L>F | No |
ClinGen TOPMed |
|
|
CA314523975 rs971748478 |
396 | L>I | No |
ClinGen TOPMed |
|
|
rs1354235365 CA409048421 |
399 | P>L | No |
ClinGen gnomAD |
|
|
CA9860601 rs752693711 |
402 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409048623 rs1278386713 |
408 | R>G | No |
ClinGen TOPMed |
|
|
CA314524018 rs1051411887 |
411 | S>N | No |
ClinGen Ensembl |
|
|
rs756236672 CA9860603 |
414 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA409048767 rs1458357287 |
415 | S>N | No |
ClinGen gnomAD |
|
|
rs764467717 CA9860604 |
418 | S>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 418 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9860605 COSM443829 rs754400245 |
420 | R>K | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA314524029 rs867375183 |
421 | D>V | No |
ClinGen Ensembl |
|
|
CA409048865 rs1473944947 |
421 | D>Y | No |
ClinGen gnomAD |
|
|
CA409048922 rs1419412142 |
424 | P>L | No |
ClinGen gnomAD |
|
|
rs1569002694 CA409048950 |
426 | H>P | No |
ClinGen Ensembl |
|
|
rs146167352 CA409048959 |
426 | H>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA314524036 rs1004429821 |
427 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA9860607 rs147370764 |
428 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9860608 rs746276602 |
432 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA409049108 rs1439138619 |
435 | V>A | No |
ClinGen gnomAD |
|
|
CA9860610 rs780919986 |
437 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA9860611 rs747572020 |
438 | I>T | No |
ClinGen ExAC TOPMed |
|
|
rs773080097 CA9860613 |
441 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs770919569 CA9860615 |
443 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs201412342 CA314524057 |
444 | G>D | No |
ClinGen TOPMed |
|
|
rs774098335 CA409049357 |
448 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1318638564 CA409049352 |
448 | D>G | No |
ClinGen gnomAD |
|
|
CA409049367 rs1199206399 |
449 | S>R | No |
ClinGen TOPMed |
|
|
rs1440142878 CA409049368 |
450 | R>G | No |
ClinGen TOPMed |
|
|
rs759371988 CA9860617 |
450 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1440142878 CA409049369 |
450 | R>W | No |
ClinGen TOPMed |
|
|
rs200958946 CA9860619 |
451 | D>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA409049376 rs1569002976 |
451 | D>N | No |
ClinGen Ensembl |
|
|
CA409049402 rs1211239337 |
453 | S>F | No |
ClinGen gnomAD |
|
|
rs1282986535 CA409049397 |
453 | S>T | No |
ClinGen TOPMed |
|
|
rs1469821401 CA409049413 |
455 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1264530444 CA409049466 |
455 | E>D | No |
ClinGen gnomAD |
|
| TCGA novel | 456 | K>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs771903986 CA9860637 |
458 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA9860638 rs775517450 |
460 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs147966988 CA409049567 |
461 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs141857505 CA9860640 |
462 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs200870645 CA9860641 |
463 | S>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9860643 rs201441091 |
465 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765799191 CA9860644 |
466 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs988127379 CA314524313 COSM1026826 |
467 | L>I | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA409049692 rs1364865541 |
468 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1364865541 CA409049685 |
468 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
rs907652825 CA314524326 |
469 | K>Q | No |
ClinGen gnomAD |
|
|
CA314524330 rs914023695 |
469 | K>T | No |
ClinGen TOPMed gnomAD |
|
| rs1412227875 | 470 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs750971260 CA9860645 |
470 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
rs766757455 CA9860647 |
472 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1242754947 CA409049759 |
473 | L>F | No |
ClinGen gnomAD |
|
| TCGA novel | 474 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA409049799 rs151288462 |
476 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs151288462 CA9860648 |
476 | D>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs140918301 CA9860649 |
477 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1489392536 CA409049825 |
477 | P>S | No |
ClinGen TOPMed |
|
|
rs1335461052 CA409049878 |
480 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA314524346 rs943508997 |
480 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA9860650 rs370221648 |
481 | V>A | No |
ClinGen ESP ExAC gnomAD |
|
|
rs931583780 CA314524357 |
482 | K>N | No |
ClinGen Ensembl |
|
|
rs1451620913 CA409049947 |
484 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs756787191 CA9860652 |
486 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1197118083 CA409050728 |
488 | Y>C | No |
ClinGen gnomAD |
|
|
rs1167372442 CA409050749 |
490 | W>G | No |
ClinGen gnomAD |
|
|
rs763692970 CA9860668 |
492 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs753490390 CA409050790 |
494 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753490390 CA9860669 |
494 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409050796 rs756697672 |
495 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9860670 rs756697672 |
495 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1600730670 CA409050795 |
495 | P>S | No |
ClinGen Ensembl |
|
|
rs1394647992 CA409050809 CA409050811 |
496 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
CA409050801 rs1600730718 |
496 | M>L | No |
ClinGen Ensembl |
|
|
CA9860671 rs573472022 |
498 | L>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA409050841 rs1227293425 |
499 | S>Y | No |
ClinGen gnomAD |
|
|
rs1436929498 CA409050873 |
502 | A>V | No |
ClinGen gnomAD |
|
|
CA9860672 rs749965781 |
507 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409050926 rs1600730812 |
507 | L>M | No |
ClinGen Ensembl |
|
|
CA9860673 rs150225334 |
508 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9860697 rs777624273 |
510 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409051076 rs1400126943 |
512 | M>I | No |
ClinGen gnomAD |
|
|
CA409051082 rs1302017795 |
513 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1388163304 CA409051104 |
514 | K>M | No |
ClinGen gnomAD |
|
|
CA9860700 rs770918056 |
517 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9860703 rs746359500 |
520 | M>I | No |
ClinGen ExAC |
|
|
rs772631633 CA9860704 |
521 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA9860706 rs148237195 |
522 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs138855677 CA9860705 |
522 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1487509333 CA409051199 |
523 | K>R | No |
ClinGen gnomAD |
|
|
CA314525225 rs185518545 |
524 | G>S | No |
ClinGen 1000Genomes |
|
|
CA409051215 rs1193212744 |
525 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 525 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA314525227 rs972053091 |
526 | R>* | No |
ClinGen gnomAD |
|
|
rs200365376 CA9860707 |
526 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9860708 rs772744520 |
529 | F>S | No |
ClinGen ExAC |
|
| TCGA novel | 531 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs140359632 CA9860709 |
532 | R>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs552504831 CA9860710 |
532 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs926588748 CA314525242 |
533 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA409051275 rs1181138503 |
533 | R>H | No |
ClinGen TOPMed |
|
|
rs926588748 CA314525239 |
533 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA314525247 rs775742659 |
534 | R>K | No |
ClinGen Ensembl |
|
|
CA314525256 rs879537168 |
535 | D>N | No |
ClinGen Ensembl |
|
|
CA9860714 rs752495105 |
537 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1179956128 CA409051311 |
539 | E>G | No |
ClinGen TOPMed |
|
|
rs74573862 RCV000959302 CA9860716 |
539 | E>K | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA9860719 rs757556828 |
540 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA9860717 rs749482291 |
540 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs753732508 CA9860735 |
541 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs757388272 CA9860736 |
541 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409051466 rs757388272 |
541 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779154154 CA9860737 |
542 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409051486 rs1260229378 |
543 | A>V | No |
ClinGen gnomAD |
|
|
CA409051520 rs1182901845 |
546 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
CA409051524 rs1422296359 |
546 | E>G | No |
ClinGen gnomAD |
|
|
CA409051517 rs1182901845 |
546 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA409051531 rs1472256347 |
547 | K>E | No |
ClinGen TOPMed |
|
|
CA9860739 rs374830738 |
549 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs758478082 CA9860740 |
552 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA9860742 rs780481241 |
553 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409051612 rs1434165117 |
554 | Q>* | No |
ClinGen gnomAD |
|
| TCGA novel | 554 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1173736183 CA409051616 |
554 | Q>R | No |
ClinGen gnomAD |
|
|
CA409051626 rs1360637261 |
555 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1234500526 CA409051712 |
558 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA409051710 rs1234500526 |
558 | T>K | No |
ClinGen TOPMed gnomAD |
|
|
CA9860759 rs765377061 |
562 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs776448156 CA314528167 |
566 | D>G | No |
ClinGen Ensembl |
|
|
CA9860760 rs750657532 |
566 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs137973895 CA409051776 |
568 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9860761 rs137973895 |
568 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 570 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1450466506 CA409051791 |
570 | S>N | No |
ClinGen gnomAD |
|
|
rs780104100 CA9860762 |
571 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 572 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9860763 rs751703541 |
572 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1177745517 CA409051831 |
576 | I>S | No |
ClinGen TOPMed gnomAD |
|
|
CA409051830 rs1177745517 |
576 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs76471793 CA314528175 |
578 | S>P | No |
ClinGen Ensembl |
|
|
rs781735860 CA9860766 |
580 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA314528183 rs929581882 |
581 | P>L | No |
ClinGen Ensembl |
|
|
rs923477257 CA314528177 |
581 | P>S | No |
ClinGen Ensembl |
|
|
rs756548672 CA9860768 |
583 | T>P | No |
ClinGen ExAC |
|
|
CA9860769 rs778646139 |
584 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775107074 CA409051876 |
585 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA9860772 rs775107074 |
585 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1391824841 CA409051884 |
586 | S>Y | No |
ClinGen TOPMed |
|
|
CA314528203 rs746575898 |
587 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA9860773 rs746575898 |
587 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs1441863121 CA409051890 |
587 | T>S | No |
ClinGen gnomAD |
|
|
rs149538893 CA9860774 |
588 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1375064590 CA409051897 |
589 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1375064590 CA409051896 |
589 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA314528213 rs768306356 |
589 | T>S | No |
ClinGen Ensembl |
|
|
rs1242952795 CA409051908 |
590 | Y>* | No |
ClinGen gnomAD |
|
|
CA409051906 rs1569008755 |
590 | Y>S | No |
ClinGen Ensembl |
|
|
CA409051927 rs1355113414 |
593 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA9860775 rs776661639 |
593 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA409051934 rs1396336402 |
594 | L>P | No |
ClinGen TOPMed |
|
|
CA9860776 rs376571239 |
595 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1418396808 CA409051938 |
595 | R>H | No |
ClinGen TOPMed |
|
|
CA9860778 rs745500799 |
598 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751547953 CA9860781 |
599 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409051959 rs751547953 |
599 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs148198959 CA409051979 |
601 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA409051975 rs1393492735 |
601 | I>V | No |
ClinGen gnomAD |
|
|
rs770777608 CA9860818 |
602 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749018950 CA9860817 |
602 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs201671223 CA9860819 |
603 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9860820 rs376739657 |
603 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA409052113 rs1233134863 |
607 | Q>H | No |
ClinGen gnomAD |
|
|
rs1376560544 CA409052114 |
608 | E>K | No |
ClinGen gnomAD |
|
|
CA409052140 rs1164165804 |
611 | N>K | No |
ClinGen TOPMed |
|
|
rs775615218 CA9860823 |
611 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760857300 CA9860824 |
612 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764655015 CA409052148 |
613 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764655015 CA9860825 |
613 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 614 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762468320 CA9860827 |
617 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA9860829 rs750795339 |
618 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA9860828 rs765631672 |
618 | T>P | No |
ClinGen ExAC |
|
|
rs780733377 CA9860831 |
621 | Y>S | No |
ClinGen ExAC |
|
|
rs752165637 CA9860832 |
622 | Q>R | No |
ClinGen ExAC |
|
|
CA9860833 rs755629910 |
623 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs200872050 CA9860836 |
624 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA9860835 rs200872050 |
624 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs554970750 CA314528735 |
625 | C>* | No |
ClinGen Ensembl |
|
|
rs745696409 CA9860838 |
625 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs772286289 CA9860839 |
626 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775885873 CA9860840 |
626 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 629 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 630 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA409052265 rs1260632347 |
631 | I>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1439635791 CA409052270 |
632 | Y>S | No |
ClinGen gnomAD |
|
|
CA409052286 rs1361975984 |
634 | W>* | No |
ClinGen gnomAD |
|
|
rs760769336 CA9860841 |
635 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1292631982 CA409052298 |
636 | W>G | No |
ClinGen gnomAD |
|
|
CA9860843 rs776917907 |
638 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762352124 CA9860844 |
639 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9860845 rs765714191 |
639 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA9860846 rs750752297 |
640 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409052326 rs750752297 |
640 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9860847 rs763260872 |
644 | D>A | No |
ClinGen ExAC gnomAD |
|
|
CA9860848 rs540639290 |
645 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1264897419 CA409052380 |
646 | D>H | No |
ClinGen gnomAD |
|
|
rs1264897419 CA409052379 |
646 | D>N | No |
ClinGen gnomAD |
|
|
COSM1213634 CA9860851 rs374501980 |
647 | G>D | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs111519678 CA9860850 |
647 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs577023252 CA9860852 |
650 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs956789921 CA314528768 |
651 | K>R | No |
ClinGen Ensembl |
|
|
CA9860880 rs755204251 |
654 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs1275570008 CA409052500 |
654 | A>V | No |
ClinGen gnomAD |
|
|
rs773403140 CA9860886 |
660 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9860885 rs769780618 |
660 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1235713960 CA409052565 |
662 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1303676229 CA409052572 |
663 | G>E | No |
ClinGen TOPMed |
|
|
rs749758366 CA9860887 |
666 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA409052604 rs1261774433 |
667 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA409052611 rs1476643245 |
668 | H>Q | No |
ClinGen gnomAD |
|
|
CA409052613 rs771463560 |
669 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771463560 CA9860888 |
669 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774672133 CA9860891 |
669 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA9860889 rs1012586655 |
669 | Q>R | No |
ClinGen Ensembl |
|
|
CA409052621 rs1413683898 |
670 | G>D | No |
ClinGen gnomAD |
|
|
CA409052629 rs1360791096 |
671 | I>T | No |
ClinGen gnomAD |
|
| TCGA novel | 673 | S>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1313587635 CA409052655 |
674 | L>P | No |
ClinGen gnomAD |
|
|
rs776151215 CA9860895 |
676 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA409052692 rs1234813356 |
677 | K>N | No |
ClinGen gnomAD |
|
|
CA314528982 rs1008281959 |
677 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs761330628 CA9860896 |
678 | I>S | No |
ClinGen ExAC gnomAD |
|
|
CA9860897 rs12625565 CA409052716 VAR_053489 |
679 | Q>H | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA9860899 rs749989327 |
680 | L>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA314529174 rs748997687 |
682 | G>R | No |
ClinGen TOPMed |
|
|
CA9860922 rs766350363 |
683 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs762582110 CA9860921 |
683 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA314529214 rs1029772906 CA409052809 |
684 | K>N | No |
ClinGen TOPMed |
|
|
rs767207908 COSM1683114 CA9860925 |
689 | S>L | kidney [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs756271958 CA9860927 |
690 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs370184878 CA9860930 |
691 | R>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
rs753824321 CA9860929 |
691 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1444928499 CA409052879 |
692 | A>T | No |
ClinGen gnomAD |
|
|
rs1279647359 CA409052891 |
693 | I>F | No |
ClinGen gnomAD |
|
|
rs747504026 CA9860931 |
693 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772635374 CA9860933 |
694 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1411791892 CA409052911 |
695 | M>V | No |
ClinGen TOPMed |
|
|
rs1274653562 CA409052923 |
696 | A>T | No |
ClinGen gnomAD |
|
|
rs150066356 CA9860934 |
696 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 698 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA409052951 rs1600744440 |
699 | T>P | No |
ClinGen Ensembl |
|
|
CA9860936 rs769289260 |
700 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs377243327 CA409052987 |
702 | Y>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9860939 rs377243327 |
702 | Y>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1163112314 CA409053006 |
704 | Q>* | No |
ClinGen gnomAD |
|
|
CA9860940 rs774068041 |
706 | V>L | No |
ClinGen ExAC |
|
|
rs775102312 CA9860944 |
708 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs368424400 CA9860942 |
708 | E>K | No |
ClinGen ESP ExAC gnomAD |
|
|
rs760552215 CA9860945 |
709 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 710 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA409053077 rs1227374464 |
710 | G>D | No |
ClinGen TOPMed |
|
|
rs1330144315 CA409053075 |
710 | G>S | No |
ClinGen gnomAD |
|
|
rs1339430969 CA409053084 |
711 | C>S | No |
ClinGen gnomAD |
|
|
rs1339430969 CA409053087 |
711 | C>Y | No |
ClinGen gnomAD |
|
|
rs1412365125 CA409053100 |
712 | S>R | No |
ClinGen gnomAD |
|
|
CA9860946 rs372267020 |
713 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA314529286 rs915761749 |
714 | P>S | No |
ClinGen gnomAD |
|
|
rs12481055 CA314529289 |
715 | K>Q | No |
ClinGen Ensembl |
|
| TCGA novel | 715 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9860947 rs142264713 |
716 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1600744688 CA409053151 |
717 | P>L | No |
ClinGen Ensembl |
|
|
CA9860949 rs765297193 |
717 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1196370623 CA409053162 |
718 | I>M | No |
ClinGen gnomAD |
|
|
CA409053192 rs1441952729 |
721 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA409053183 rs1569012590 |
721 | S>P | No |
ClinGen Ensembl |
|
|
rs981174237 CA314529306 |
723 | S>G | No |
ClinGen Ensembl |
|
|
rs36001533 CA314529307 |
726 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA409053311 rs1300528683 |
732 | E>K | No |
ClinGen TOPMed |
|
|
CA409053321 rs1569013131 |
733 | V>L | No |
ClinGen Ensembl |
|
|
CA9860972 rs200532675 |
735 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409053370 rs1258998246 |
738 | P>A | No |
ClinGen gnomAD |
|
|
CA9860974 rs781659803 |
739 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA9860973 rs781659803 |
739 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1399610251 CA409053396 |
740 | V>A | No |
ClinGen TOPMed |
|
|
rs1205882967 CA409053393 |
740 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA409053391 rs1205882967 |
740 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs745310504 CA9860977 |
742 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9860979 rs146829513 |
744 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA409053452 rs1156340021 |
745 | C>F | No |
ClinGen gnomAD |
|
|
rs768516518 CA9860981 |
746 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs918612418 CA314529445 |
747 | S>C | No |
ClinGen TOPMed |
|
|
rs1162276612 CA409053479 |
748 | D>N | No |
ClinGen gnomAD |
|
|
CA409053513 rs1375747263 |
749 | I>M | No |
ClinGen gnomAD |
|
|
CA409053504 rs1392097014 |
749 | I>V | No |
ClinGen gnomAD |
|
|
rs1477272529 CA409053521 |
750 | Q>* | No |
ClinGen TOPMed |
|
|
rs776388793 CA9860982 |
754 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409053607 rs1436042204 |
756 | H>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1436042204 CA409053609 |
756 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA9860985 rs773434462 |
757 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA9860984 rs769935976 |
757 | G>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 758 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9860986 rs763140777 |
759 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409053676 rs1325647983 |
760 | F>L | No |
ClinGen TOPMed |
|
|
rs751628260 CA9860988 |
761 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs766473959 CA9860987 |
761 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1318741234 CA409053692 |
761 | Y>N | No |
ClinGen gnomAD |
|
|
CA409053718 rs1569013506 |
762 | A>G | No |
ClinGen Ensembl |
|
|
CA409053744 rs1215975433 |
764 | F>S | No |
ClinGen gnomAD |
|
|
CA9860989 rs760063326 |
765 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409053803 rs1175920710 |
768 | P>S | No |
ClinGen gnomAD |
|
|
CA9860991 rs753075617 |
769 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA314529463 rs753075617 |
769 | N>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409053914 rs1569013714 |
770 | D>G | No |
ClinGen Ensembl |
|
|
CA409053930 rs1252924611 |
771 | V>D | No |
ClinGen TOPMed |
|
|
CA409053947 rs1366359616 |
772 | F>S | No |
ClinGen Ensembl |
|
|
CA409053998 rs1350407533 |
775 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
CA409053997 rs1350407533 COSM3693688 |
775 | R>Q | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs774436094 CA9861005 |
775 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9861006 rs759569886 |
776 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA9861008 rs200830801 |
777 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs200924989 CA9861007 |
777 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA409054066 rs146490125 |
781 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9861012 rs146490125 |
781 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs140814287 CA9861013 |
783 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs751013423 CA9861014 |
783 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751013423 CA409054117 |
783 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9861015 rs754496881 |
784 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409054193 rs1241124989 |
788 | N>K | No |
ClinGen gnomAD |
|
|
CA9861016 rs780736528 |
788 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs972028549 CA314529533 |
789 | P>H | No |
ClinGen TOPMed |
|
|
CA9861019 rs78539031 |
790 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9861020 rs78539031 |
790 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9861018 rs78539031 COSM1411818 |
790 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs748072259 COSM1681675 CA9861017 |
790 | R>W | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs771141248 CA9861021 |
791 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774444939 CA9861022 |
792 | E>A | No |
ClinGen ExAC |
|
|
rs951444852 CA314529538 |
792 | E>D | No |
ClinGen TOPMed |
|
|
CA409054236 rs1458204905 |
792 | E>Q | No |
ClinGen TOPMed |
|
|
rs1453725337 CA409054249 |
793 | L>F | No |
ClinGen gnomAD |
|
|
CA409054355 rs1207882427 |
797 | L>P | No |
ClinGen TOPMed |
|
|
CA409054352 rs1171675280 |
797 | L>V | No |
ClinGen gnomAD |
|
|
CA9861024 rs534265670 |
798 | I>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA409054376 rs1393408397 |
798 | I>V | No |
ClinGen gnomAD |
|
|
CA409054474 rs1401730112 |
801 | H>L | No |
ClinGen gnomAD |
|
|
CA409054481 rs1428836256 |
801 | H>Q | No |
ClinGen gnomAD |
|
|
rs758627224 CA9861027 |
802 | K>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 802 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9861026 rs758627224 |
802 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1363009667 CA409054518 |
803 | S>P | No |
ClinGen gnomAD |
|
|
rs1351600555 CA409054521 |
803 | S>Y | No |
ClinGen TOPMed |
|
|
rs201841413 CA9861029 |
804 | T>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9861028 rs201841413 COSM459748 |
804 | T>M | cervix Variant assessed as Somatic; 0.0 impact. central_nervous_system [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs769167782 CA9861046 |
805 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA409054668 rs1600747907 |
805 | Y>D | No |
ClinGen Ensembl |
|
|
CA314529635 rs901711089 |
806 | E>G | No |
ClinGen TOPMed |
|
|
rs371258106 CA9861048 |
807 | R>Q | Variant assessed as Somatic; 4.624e-05 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
COSM1213631 CA9861047 rs777017220 |
807 | R>W | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA409054729 rs1274763889 |
808 | L>F | No |
ClinGen gnomAD |
|
|
CA9861050 rs773664725 |
809 | G>R | No |
ClinGen ExAC |
|
|
rs759163633 CA9861052 |
811 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs767177501 CA9861053 |
812 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA9861055 rs149254843 |
813 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9861057 rs764038949 |
815 | L>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9861056 rs764038949 |
815 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9861058 rs202035187 |
816 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1600748066 CA409054904 |
816 | F>S | No |
ClinGen Ensembl |
|
|
CA409054929 rs1397050985 |
817 | P>L | No |
ClinGen gnomAD |
|
|
CA409054916 rs1569014395 |
817 | P>S | No |
ClinGen Ensembl |
|
|
CA9861059 rs375233397 |
818 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369541922 CA314529692 |
820 | A>T | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA9861060 rs745707617 |
821 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9861061 rs146929537 |
821 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA314529701 rs137859481 |
822 | G>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA409055000 rs1231014747 |
825 | T>A | No |
ClinGen gnomAD |
|
|
CA9861062 rs780454973 |
825 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9861063 rs780454973 |
825 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409055004 rs1600748240 |
826 | D>A | No |
ClinGen Ensembl |
|
|
CA9861064 rs768604417 |
826 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs568281614 CA9861065 |
827 | L>P | No |
ClinGen ExAC |
|
|
rs1600748282 CA409055028 |
829 | N>T | No |
ClinGen Ensembl |
|
|
CA9861067 rs770381002 |
830 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs564301706 CA9861068 |
830 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA409055036 rs770381002 |
830 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA9861069 rs532985828 |
831 | E>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9861070 rs771641416 |
832 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1420548786 CA409055073 |
833 | S>R | No |
ClinGen gnomAD |
|
|
rs539922458 CA9861074 |
839 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs575986671 CA9861073 |
839 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9861075 rs761635695 |
840 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA9861076 rs761635695 |
840 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs750203300 CA9861077 |
841 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA9861079 rs758273451 |
843 | P>S | No |
ClinGen ExAC |
|
|
rs1314321780 CA409055221 |
845 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA9861081 rs751827107 |
847 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780051788 CA9861080 |
847 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA409055259 rs1277194095 |
848 | D>H | No |
ClinGen TOPMed |
|
|
rs1268160097 CA409055272 |
849 | T>A | No |
ClinGen gnomAD |
|
|
rs559828888 CA9861082 |
849 | T>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA409055290 rs1275522975 |
850 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA9861085 rs200186178 |
851 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
No associated diseases with Q9BQK8
Functions
| Description | ||
|---|---|---|
| EC Number | 3.1.3.4 | Phosphoric monoester hydrolases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
2 GO annotations of cellular component
| Name | Definition |
|---|---|
| endoplasmic reticulum membrane | The lipid bilayer surrounding the endoplasmic reticulum. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| phosphatidate phosphatase activity | Catalysis of the reaction: a 1,2-diacylglycerol 3-phosphate + H2O = a 1,2-diacyl-sn-glycerol + phosphate. |
| transcription coactivator activity | A transcription coregulator activity that activates or increases the transcription of specific gene sets via binding to a DNA-bound DNA-binding transcription factor, either on its own or as part of a complex. Coactivators often act by altering chromatin structure and modifications. For example, one class of transcription coactivators modifies chromatin structure through covalent modification of histones. A second class remodels the conformation of chromatin in an ATP-dependent fashion. A third class modulates interactions of DNA-bound DNA-binding transcription factors with other transcription coregulators. A fourth class of coactivator activity is the bridging of a DNA-binding transcription factor to the general (basal) transcription machinery. The Mediator complex, which bridges sequence-specific DNA binding transcription factors and RNA polymerase, is also a transcription coactivator. |
5 GO annotations of biological process
| Name | Definition |
|---|---|
| cellular lipid metabolic process | The chemical reactions and pathways involving lipids, as carried out by individual cells. |
| cellular response to insulin stimulus | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an insulin stimulus. Insulin is a polypeptide hormone produced by the islets of Langerhans of the pancreas in mammals, and by the homologous organs of other organisms. |
| fatty acid catabolic process | The chemical reactions and pathways resulting in the breakdown of a fatty acid, any of the aliphatic monocarboxylic acids that can be liberated by hydrolysis from naturally occurring fats and oils. Fatty acids are predominantly straight-chain acids of 4 to 24 carbon atoms, which may be saturated or unsaturated; branched fatty acids and hydroxy fatty acids also occur, and very long chain acids of over 30 carbons are found in waxes. |
| positive regulation of transcription by RNA polymerase II | Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter. |
| triglyceride biosynthetic process | The chemical reactions and pathways resulting in the formation of a triglyceride, any triester of glycerol. |
5 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q92539 | LPIN2 | Phosphatidate phosphatase LPIN2 | Homo sapiens (Human) | PR |
| Q14693 | LPIN1 | Phosphatidate phosphatase LPIN1 | Homo sapiens (Human) | PR |
| Q91ZP3 | Lpin1 | Phosphatidate phosphatase LPIN1 | Mus musculus (Mouse) | PR |
| Q99PI5 | Lpin2 | Phosphatidate phosphatase LPIN2 | Mus musculus (Mouse) | PR |
| Q9FMN2 | PAH2 | Phosphatidate phosphatase PAH2 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MNYVGQLAET | VFGTVKELYR | GLNPATLSGG | IDVLVVKQVD | GSFRCSPFHV | RFGKLGVLRS |
| 70 | 80 | 90 | 100 | 110 | 120 |
| REKVVDIELN | GEPVDLHMKL | GDSGEAFFVQ | ELESDDEHVP | PGLCTSPIPW | GGLSGFPSDS |
| 130 | 140 | 150 | 160 | 170 | 180 |
| QLGTASEPEG | LVMAGTASTG | RRKRRRRRKP | KQKEDAVATD | SSPEELEAGA | ESELSLPEKL |
| 190 | 200 | 210 | 220 | 230 | 240 |
| RPEPPGVQLE | EKSSLQPKDI | YPYSDGEWPP | QASLSAGELT | SPKSDSELEV | RTPEPSPLRA |
| 250 | 260 | 270 | 280 | 290 | 300 |
| ESHMQWAWGR | LPKVARAERP | ESSVVLEGRA | GATSPPRGGP | STPSTSVAGG | VDPLGLPIQQ |
| 310 | 320 | 330 | 340 | 350 | 360 |
| TEAGADLQPD | TEDPTLVGPP | LHTPETEESK | TQSSGDMGLP | PASKSWSWAT | LEVPVPTGQP |
| 370 | 380 | 390 | 400 | 410 | 420 |
| ERVSRGKGSP | KRSQHLGPSD | IYLDDLPSLD | SENAALYFPQ | SDSGLGARRW | SEPSSQKSLR |
| 430 | 440 | 450 | 460 | 470 | 480 |
| DPNPEHEPEP | TLDTVDTIAL | SLCGGLADSR | DISLEKFNQH | SVSYQDLTKN | PGLLDDPNLV |
| 490 | 500 | 510 | 520 | 530 | 540 |
| VKINGKHYNW | AVAAPMILSL | QAFQKNLPKS | TMDKLEREKM | PRKGGRWWFS | WRRRDFLAEE |
| 550 | 560 | 570 | 580 | 590 | 600 |
| RSAQKEKTAA | KEQQGEKTEV | LSSDDDAPDS | PVILEIPSLP | PSTPPSTPTY | KKSLRLSSDQ |
| 610 | 620 | 630 | 640 | 650 | 660 |
| IRRLNLQEGA | NDVVFSVTTQ | YQGTCRCKAT | IYLWKWDDKV | VISDIDGTIT | KSDALGHILP |
| 670 | 680 | 690 | 700 | 710 | 720 |
| QLGKDWTHQG | ITSLYHKIQL | NGYKFLYCSA | RAIGMADLTK | GYLQWVSEGG | CSLPKGPILL |
| 730 | 740 | 750 | 760 | 770 | 780 |
| SPSSLFSALH | REVIEKKPEV | FKVACLSDIQ | QLFLPHGQPF | YAAFGNRPND | VFAYRQVGLP |
| 790 | 800 | 810 | 820 | 830 | 840 |
| ESRIFTVNPR | GELIQELIKN | HKSTYERLGE | VVELLFPPVA | RGPSTDLANP | EYSNFCYWRE |
| 850 | |||||
| PLPAVDLDTL | D |