Q15334
Gene name |
LLGL1 (DLG4, HUGL, HUGL1) |
Protein name |
Lethal(2) giant larvae protein homolog 1 |
Names |
LLGL, DLG4, Hugl-1, Human homolog to the D-lgl gene protein |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:3996 |
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 Q15334
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q15334-F1 | Predicted | AlphaFoldDB |
932 variants for Q15334
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA398588353 rs1489396501 |
2 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
CA398588366 rs1203200603 |
3 | K>R | No |
gnomAD ClinGen |
|
|
rs1201637677 CA398588379 |
5 | R>W | No |
TOPMed ClinGen |
|
|
rs1322957849 CA398588383 |
6 | F>V | No |
TOPMed ClinGen |
|
|
rs1263874188 CA398588392 |
7 | R>W | No |
TOPMed ClinGen |
|
|
CA398588398 rs1240319536 |
8 | R>Q | No |
Ensembl ClinGen |
|
|
rs1260702126 CA398588397 |
8 | R>W | No |
gnomAD ClinGen |
|
|
CA8426336 rs200829360 |
11 | A>T | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs1383002095 CA398588423 |
12 | D>G | No |
ClinGen gnomAD |
|
|
CA398588431 rs1443526113 |
13 | P>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs779701944 CA398588464 |
18 | L>I | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA8426337 rs779701944 |
18 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1335359921 CA398588475 |
19 | K>N | No |
TOPMed ClinGen |
|
|
rs1288659546 CA398588510 |
22 | L>P | No |
gnomAD ClinGen |
|
|
CA398588525 rs1056821372 |
23 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1386053897 CA398588517 |
23 | F>V | No |
gnomAD ClinGen |
|
|
rs751173255 CA8426338 |
24 | A>S | No |
ExAC gnomAD ClinGen |
|
|
CA398588560 rs1302983559 |
25 | F>L | No |
ClinGen TOPMed |
|
|
CA288427491 rs896304706 |
27 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA398588781 rs1375589655 |
28 | T>A | No |
TOPMed ClinGen |
|
|
rs1335087294 CA398588784 |
28 | T>I | No |
ClinGen gnomAD |
|
|
rs1335087294 CA398588782 |
28 | T>N | No |
gnomAD ClinGen |
|
| TCGA novel | 32 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs115967277 RCV000957558 CA8426347 |
35 | N>S | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs115967277 CA8426348 |
35 | N>T | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA398588855 rs772520170 |
38 | S>R | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs376398557 CA8426350 COSM1213449 |
39 | A>T | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC gnomAD |
|
CA398588865 rs1371355472 |
40 | L>P | No |
ClinGen gnomAD |
|
|
CA8426351 rs760918366 |
41 | A>S | No |
ExAC gnomAD ClinGen |
|
|
CA398588867 rs760918366 |
41 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1597859284 CA398588880 |
43 | D>N | No |
Ensembl ClinGen |
|
|
rs1317423015 CA398588889 |
44 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs141705015 CA8426353 |
44 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs141705015 CA398588892 |
44 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA398588906 rs1322407439 |
46 | L>H | No |
gnomAD ClinGen |
|
|
rs540140275 CA8426355 |
47 | R>C | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
CA8426356 rs368206803 |
47 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ESP ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
CA8426357 rs368206803 |
47 | R>L | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA398588910 rs1479408293 |
48 | I>V | No |
TOPMed gnomAD ClinGen |
|
|
CA8426358 rs766097233 |
49 | M>T | No |
ExAC gnomAD ClinGen |
|
|
CA398588918 rs1180516758 |
49 | M>V | No |
TOPMed ClinGen |
|
|
CA8426360 rs751226368 |
51 | I>F | No |
ExAC gnomAD ClinGen |
|
|
CA398588935 rs145857913 |
51 | I>M | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs751226368 CA8426359 |
51 | I>V | No |
ExAC gnomAD ClinGen |
|
|
CA8426362 rs752191168 |
52 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA398588957 rs755632435 |
54 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 56 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs746307176 CA8426365 |
59 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA8426385 rs759038245 |
61 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA398589530 rs1364849320 |
61 | Y>N | No |
gnomAD ClinGen |
|
|
rs780673566 CA8426386 |
63 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs918284262 CA398589575 |
64 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs747380008 CA8426387 |
64 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA398589580 rs747380008 |
64 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs918284262 CA288429173 |
64 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs374850782 CA288429175 |
66 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed |
|
CA398589655 rs1183168383 |
68 | F>L | No |
Ensembl ClinGen |
|
|
rs1219582722 CA398589661 |
69 | T>A | No |
ClinGen gnomAD |
|
| TCGA novel | 69 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1490642915 CA398589689 |
70 | G>D | No |
ClinGen gnomAD |
|
|
CA398589695 rs139741665 |
71 | L>V | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
CA8426393 COSM3402647 rs369006714 |
73 | R>Q | central_nervous_system Variant assessed as Somatic; 4.627e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA288429178 rs1024725728 |
73 | R>W | No |
TOPMed ClinGen |
|
|
CA8426395 rs774253367 |
74 | D>E | No |
ExAC gnomAD ClinGen |
|
|
CA8426394 rs576744666 |
74 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759275617 CA8426396 |
77 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs767307584 CA8426397 |
79 | T>A | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA8426398 rs767307584 |
79 | T>S | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA398589764 rs1325298231 |
81 | M>T | No |
gnomAD ClinGen |
|
|
rs1431722178 CA398589772 |
82 | H>R | No |
ClinGen TOPMed |
|
|
rs753436865 CA8426401 |
85 | T>I | No |
ClinGen ExAC |
|
|
rs940190734 CA288429190 |
86 | G>S | No |
ClinGen gnomAD |
|
|
CA8426403 rs767014581 |
87 | Q>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 88 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA288429208 rs779949594 |
88 | G>S | No |
ClinGen Ensembl |
|
|
COSM1381311 rs775418941 CA8426417 |
89 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs775418941 CA398589826 |
89 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8426418 rs749131027 |
89 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs71367436 CA288429211 |
90 | L>F | No |
Ensembl ClinGen |
|
| TCGA novel | 92 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 96 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1597863482 CA398589873 |
97 | S>G | No |
Ensembl ClinGen |
|
|
rs761438520 CA8426421 |
98 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs998383327 CA288429215 |
98 | S>N | No |
ClinGen TOPMed |
|
| TCGA novel | 100 | H>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1479734964 CA398589895 |
100 | H>R | No |
TOPMed ClinGen |
|
|
rs1179723273 CA398589909 |
102 | W>S | No |
ClinGen gnomAD |
|
|
rs1266211375 CA398589927 |
104 | I>T | No |
ClinGen TOPMed |
|
|
rs1231129089 CA398589931 |
105 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
CA398589929 rs1231129089 |
105 | V>I | No |
TOPMed gnomAD ClinGen |
|
|
rs1025290378 CA398589938 |
106 | H>P | No |
ClinGen TOPMed gnomAD |
|
|
rs767907165 CA8426425 |
106 | H>Q | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1025290378 CA288429218 |
106 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs760147317 CA8426424 |
106 | H>Y | No |
ExAC gnomAD ClinGen |
|
|
rs373799486 CA8426428 |
107 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8426427 rs558854973 |
107 | H>Y | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
rs754022666 CA8426429 |
110 | C>Y | No |
ExAC gnomAD ClinGen |
|
|
CA398589978 rs1597863619 |
112 | H>P | No |
Ensembl ClinGen |
|
|
rs1326223817 CA398589987 |
114 | E>Q | No |
gnomAD ClinGen |
|
|
rs1335717718 CA398589991 |
114 | E>V | No |
ClinGen gnomAD |
|
|
CA288429227 rs1017100617 |
115 | E>Q | No |
ClinGen TOPMed |
|
|
rs1282519481 CA398590001 |
116 | A>T | No |
TOPMed ClinGen |
|
|
rs1410905624 CA398590007 |
117 | L>F | No |
gnomAD ClinGen |
|
|
rs1290741505 CA398590012 |
117 | L>R | No |
gnomAD ClinGen |
|
|
CA8426430 rs757338252 |
118 | S>G | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1567687678 CA398590025 |
119 | F>S | No |
Ensembl ClinGen |
|
|
COSM110168 rs140543375 CA288429230 |
120 | Q>* | skin [Cosmic] | No |
Ensembl ClinGen cosmic curated |
|
rs772083796 CA8426433 |
124 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745927303 CA8426432 |
124 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8426434 rs779831824 |
125 | P>L | No |
ExAC gnomAD ClinGen |
|
|
CA8426436 rs768529419 |
126 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
CA288429235 rs924730992 |
128 | D>N | No |
TOPMed ClinGen |
|
|
CA8426461 rs770309166 |
133 | P>A | No |
ExAC gnomAD ClinGen |
|
|
rs149627877 CA8426462 |
133 | P>L | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs1597865184 CA398590910 |
137 | T>P | No |
Ensembl ClinGen |
|
|
CA8426465 rs777016863 |
138 | R>G | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs532188095 CA8426466 |
138 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs758508072 CA8426469 |
139 | V>A | No |
ExAC ClinGen |
|
|
CA8426468 rs750569469 |
139 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA398590923 rs1597865223 |
140 | T>P | No |
Ensembl ClinGen |
|
|
rs1468685547 CA398590933 |
141 | V>A | No |
ClinGen TOPMed |
|
|
rs1389700764 CA398590937 |
142 | V>F | No |
gnomAD ClinGen |
|
|
CA398590955 rs1478042049 |
145 | V>A | No |
TOPMed ClinGen |
|
|
rs148767669 CA288430680 |
147 | A>V | No |
ESP gnomAD ClinGen |
|
|
rs2290505 CA398590969 |
148 | S>C | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
VAR_058710 rs2290505 CA8426476 |
148 | S>G | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs2290505 CA398590968 |
148 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8426478 rs777515946 |
149 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1260858294 CA398590988 |
150 | I>M | No |
ClinGen gnomAD |
|
|
CA8426479 rs139586754 |
151 | A>V | No |
ESP ExAC gnomAD ClinGen |
|
|
CA398590994 rs1258898048 |
152 | A>T | No |
gnomAD ClinGen |
|
|
rs779012833 CA8426480 COSM321407 |
152 | A>V | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1413085163 CA398591031 |
158 | S>G | No |
ClinGen gnomAD |
|
|
CA8426483 rs769212595 |
160 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA398591063 rs1597865403 |
162 | F>S | No |
Ensembl ClinGen |
|
|
rs1219905152 CA398591073 |
164 | D>H | No |
TOPMed ClinGen |
|
|
CA398591080 rs1304620114 |
165 | V>I | No |
ClinGen gnomAD |
|
|
rs1597865428 CA398591086 |
166 | T>P | No |
ClinGen Ensembl |
|
|
CA398591094 rs1597865435 |
167 | T>P | No |
ClinGen Ensembl |
|
|
CA398591103 rs1597865445 |
169 | T>P | No |
ClinGen Ensembl |
|
|
rs140418988 CA8426489 |
172 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1446512968 CA398591128 CA398591129 |
173 | G>R | No |
TOPMed ClinGen |
|
|
CA8426490 rs751755671 |
175 | T>M | No |
ClinGen ExAC gnomAD |
|
|
CA398591160 rs1179042246 |
178 | P>S | No |
Ensembl ClinGen |
|
|
CA398591169 rs1479951682 |
179 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA8426492 COSM240495 rs767574625 |
180 | E>K | prostate [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs752613461 CA398591177 |
181 | V>F | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1597865533 CA398591181 |
181 | V>G | No |
ClinGen Ensembl |
|
|
rs752613461 CA8426493 |
181 | V>I | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs752613461 CA398591178 |
181 | V>L | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1036846915 COSM472383 CA288430700 |
183 | R>C | kidney [Cosmic] | No |
TOPMed gnomAD ClinGen cosmic curated |
|
rs755966163 CA8426494 |
183 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA398591214 rs1321356951 |
185 | V>A | No |
ClinGen gnomAD |
|
|
RCV000894275 rs115399906 CA8426511 |
185 | V>M | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs372427725 CA8426512 |
187 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA398591223 rs1436923796 |
187 | D>N | No |
ClinGen gnomAD |
|
|
CA8426514 rs756991504 |
188 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8426516 rs750040535 |
190 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1679628 rs757927589 CA8426517 |
190 | R>H | Variant assessed as Somatic; 0.0 impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] | No |
ExAC gnomAD ClinGen cosmic curated NCI-TCGA |
| TCGA novel | 191 | C>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1249765972 CA398591251 |
191 | C>Y | No |
TOPMed ClinGen |
|
|
rs1322742767 CA398591260 |
192 | G>A | No |
gnomAD ClinGen |
|
|
rs1322742767 CA398591259 |
192 | G>E | No |
ClinGen gnomAD |
|
|
CA398591257 rs1181590424 |
192 | G>R | No |
TOPMed ClinGen |
|
|
CA398591285 rs1277040400 |
196 | G>A | No |
ClinGen TOPMed |
|
|
CA8426518 rs779589017 |
197 | P>S | No |
ExAC gnomAD ClinGen |
|
|
CA8426520 rs770272015 |
198 | V>M | No |
ExAC gnomAD ClinGen |
|
|
CA8426521 rs778330511 |
202 | Q>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 202 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1166600948 CA398591328 |
203 | G>A | No |
gnomAD ClinGen |
|
|
rs1386002613 CA398591332 |
204 | H>Y | No |
gnomAD ClinGen |
|
|
rs1253880646 CA398591340 |
205 | L>P | No |
ClinGen gnomAD |
|
|
rs1433828535 CA398591339 |
205 | L>V | No |
ClinGen gnomAD |
|
|
rs759780470 CA8426525 |
206 | R>Q | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs774743121 CA8426524 |
206 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1284180579 CA398591346 |
207 | D>H | No |
TOPMed gnomAD ClinGen |
|
|
rs1284180579 CA398591348 |
207 | D>N | No |
TOPMed gnomAD ClinGen |
|
|
rs775468676 CA8426527 |
210 | K>T | No |
ExAC gnomAD ClinGen |
|
|
CA398591373 rs1266550940 |
211 | I>L | No |
ClinGen gnomAD |
|
|
rs1328766677 CA398591382 |
212 | L>F | No |
gnomAD ClinGen |
|
|
CA8426528 rs760800353 |
215 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA398591409 rs984797366 |
216 | S>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs753745117 CA8426531 |
216 | S>R | No |
ExAC gnomAD ClinGen |
|
|
rs984797366 CA288430737 |
216 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
CA398591413 rs1183392423 |
217 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA288430739 rs866315621 |
217 | R>W | No |
gnomAD ClinGen |
|
|
CA398591432 rs1159502964 |
221 | V>I | No |
gnomAD ClinGen |
|
|
CA398591444 rs1412285420 |
222 | I>M | No |
ClinGen gnomAD |
|
|
CA8426534 rs758087102 |
224 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs373843544 CA8426535 |
227 | S>L | No |
ExAC gnomAD ClinGen |
|
|
CA8426538 rs149080712 |
228 | Q>K | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs145917490 CA288430746 |
228 | Q>R | No |
ESP TOPMed gnomAD ClinGen |
|
|
rs1462783940 CA398591487 |
229 | C>R | No |
TOPMed ClinGen |
|
|
CA8426539 rs749760771 |
230 | V>M | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1472997591 CA398591502 |
231 | D>G | No |
TOPMed ClinGen |
|
|
rs779466517 CA398591499 |
231 | D>H | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA8426541 rs779466517 |
231 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1444188863 CA398591510 |
232 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA8426542 rs746200923 |
232 | H>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 234 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs138737182 CA8426543 |
236 | G>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8426544 rs775727708 |
237 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8426565 rs757876816 |
242 | S>N | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA398591617 rs1324515627 |
242 | S>R | No |
ClinGen gnomAD |
|
|
CA398591635 rs1296878887 |
245 | W>* | No |
ClinGen gnomAD |
|
|
CA398591637 rs1341380896 |
245 | W>* | No |
ClinGen gnomAD |
|
|
rs1239878261 CA398591633 |
245 | W>G | No |
ClinGen TOPMed gnomAD |
|
|
CA288430794 rs1034438992 |
246 | G>A | No |
ClinGen Ensembl |
|
|
rs1229124114 CA398591641 |
246 | G>R | No |
ClinGen gnomAD |
|
|
CA8426568 rs376301967 |
247 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1208994454 CA398591665 |
249 | S>I | No |
ClinGen gnomAD |
|
|
rs1208994454 CA398591669 |
249 | S>N | No |
gnomAD ClinGen |
|
|
CA398591674 rs780174211 |
249 | S>R | No |
ExAC gnomAD ClinGen |
|
|
rs1230466743 CA398591679 |
250 | S>G | No |
TOPMed ClinGen |
|
|
CA398591702 rs1311043672 |
252 | V>M | No |
TOPMed ClinGen |
|
|
rs1186139535 CA398591730 |
254 | S>T | No |
TOPMed gnomAD ClinGen |
|
|
CA398591747 rs1449541989 COSM1302475 |
255 | S>L | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs768739480 CA8426571 |
256 | H>D | No |
ClinGen ExAC gnomAD |
|
|
CA398591764 rs776813488 |
257 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8426572 rs776813488 |
257 | S>G | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA398591776 rs550170712 |
258 | D>N | No |
gnomAD ClinGen |
|
|
rs550170712 CA288430809 |
258 | D>Y | No |
ClinGen gnomAD |
|
|
rs748223416 CA8426573 |
260 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs769781235 CA8426574 |
262 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA398591844 rs1300947465 |
263 | V>A | No |
TOPMed ClinGen |
|
|
rs1597866498 CA398591869 |
265 | S>A | No |
Ensembl ClinGen |
|
|
rs773075939 CA8426575 |
266 | V>A | No |
ExAC gnomAD ClinGen |
|
|
rs142729015 CA8426576 |
267 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA398591911 rs773895330 |
268 | A>G | No |
ExAC gnomAD ClinGen |
|
|
CA8426578 rs773895330 |
268 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1039273683 CA288430818 |
269 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1189647686 CA398591951 |
272 | P>R | No |
ClinGen TOPMed |
|
|
rs933462750 CA288430822 |
273 | T>A | No |
TOPMed gnomAD ClinGen |
|
|
CA8426581 rs572067853 |
273 | T>M | Variant assessed as Somatic; 4.834e-05 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA398591956 rs572067853 |
273 | T>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs765847950 CA8426583 |
275 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA398591969 rs1423678439 |
276 | P>T | No |
gnomAD ClinGen |
|
|
rs541724642 CA288430830 |
277 | T>K | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
CA8426584 rs541724642 |
277 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA398591975 rs1597866598 |
277 | T>P | No |
ClinGen Ensembl |
|
|
CA398591979 rs1158754832 |
278 | V>I | No |
ClinGen gnomAD |
|
|
rs1158754832 CA398591981 |
278 | V>L | No |
gnomAD ClinGen |
|
|
CA8426587 rs751840897 |
280 | T>A | No |
ExAC gnomAD ClinGen |
|
|
CA398591995 rs1301123851 |
280 | T>I | No |
ClinGen gnomAD |
|
|
rs1567689191 CA398591997 |
281 | T>A | No |
ClinGen Ensembl |
|
|
rs781379755 CA8426589 |
282 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1296351196 CA398592006 |
282 | P>L | No |
TOPMed ClinGen |
|
|
CA8426590 rs767559015 |
283 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA8426617 rs760456293 |
285 | P>H | No |
ExAC gnomAD ClinGen |
|
|
CA398592035 rs1259794786 |
285 | P>T | No |
ClinGen gnomAD |
|
|
rs1366405617 CA398592045 |
286 | F>L | No |
ClinGen gnomAD |
|
|
CA8426618 rs768394902 |
287 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs776347706 CA8426619 |
290 | A>P | No |
ExAC gnomAD ClinGen |
|
| TCGA novel | 292 | N>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA398592099 rs1397132164 |
294 | I>T | No |
TOPMed ClinGen |
|
|
rs1275935937 CA398592108 |
296 | W>R | No |
gnomAD ClinGen |
|
|
CA8426620 rs761217001 |
297 | R>Q | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA288430978 rs914359986 |
297 | R>W | No |
TOPMed ClinGen |
|
|
CA625315992 rs1219764329 |
299 | C>* | No |
gnomAD ClinGen |
|
|
CA398592130 rs1246381038 |
299 | C>Y | No |
ClinGen gnomAD |
|
|
rs766923153 CA8426621 |
300 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1021368688 CA288431071 |
303 | G>D | No |
TOPMed ClinGen |
|
|
CA8426649 rs575031000 |
303 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8426650 rs750487037 |
307 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA398592200 rs1264405374 |
308 | F>V | No |
ClinGen gnomAD |
|
|
rs1045480644 CA288431084 |
309 | S>G | No |
ClinGen TOPMed |
|
|
CA8426652 CA398592231 rs372476783 |
312 | M>I | No |
ClinGen ESP ExAC gnomAD |
|
|
CA8426654 rs754753711 |
314 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA398592241 rs1286359996 |
314 | R>H | No |
TOPMed gnomAD ClinGen |
|
|
CA8426655 rs780930152 |
317 | Y>C | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA398592281 rs1471753872 |
320 | R>C | No |
TOPMed ClinGen |
|
|
rs1236793920 CA398592282 |
320 | R>H | No |
TOPMed ClinGen |
|
|
rs769466162 CA398592292 |
321 | H>Q | No |
ExAC gnomAD ClinGen |
|
|
CA398592294 rs1188777529 |
322 | C>R | No |
ClinGen TOPMed |
|
| TCGA novel | 323 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1485889954 CA398592301 |
323 | V>I | No |
TOPMed gnomAD ClinGen |
|
|
rs748791635 CA398592327 |
327 | R>* | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs748791635 CA8426659 |
327 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8426660 COSM269498 rs150688696 |
327 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ESP ExAC TOPMed gnomAD ClinGen cosmic curated NCI-TCGA |
|
CA8426662 rs761027899 |
329 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC TOPMed gnomAD ClinGen NCI-TCGA |
| TCGA novel | 332 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA398592367 rs1334135770 |
333 | T>M | No |
ClinGen gnomAD |
|
|
rs761985510 CA8426665 |
339 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC gnomAD ClinGen NCI-TCGA |
|
rs1417041190 CA398592401 |
339 | R>S | No |
ClinGen gnomAD |
|
|
CA398592414 rs1240100045 |
341 | I>V | No |
gnomAD ClinGen |
|
|
rs763070749 CA8426669 |
342 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA398592420 rs1343021624 |
342 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA8426670 rs751503572 |
343 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA8426671 rs754841562 |
345 | T>A | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA398592462 rs1212774836 |
347 | H>R | No |
gnomAD ClinGen |
|
|
rs780898751 CA8426672 |
348 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs752504126 CA8426673 |
349 | T>A | No |
ExAC gnomAD ClinGen |
|
|
CA8426676 rs142159009 |
350 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8426675 rs374862629 |
350 | R>W | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs780566991 CA8426678 |
352 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA8426679 rs747567402 |
354 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
CA8426700 CA8426701 rs572830833 |
357 | D>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 359 | Q>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8426702 rs146350733 |
362 | A>T | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs1419688034 CA398592719 |
366 | E>K | No |
TOPMed ClinGen |
|
|
rs769051014 CA8426706 |
370 | V>L | No |
ExAC TOPMed gnomAD ClinGen |
|
| TCGA novel | 373 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1253991128 CA398592818 |
374 | L>M | No |
ClinGen TOPMed |
|
|
CA398592867 rs1216138391 |
378 | G>D | No |
TOPMed ClinGen |
|
|
CA398592894 rs1597868320 |
380 | P>A | No |
ClinGen Ensembl |
|
|
rs1319899736 CA398592930 |
383 | P>L | No |
gnomAD ClinGen |
|
|
CA288431232 rs1045071932 |
385 | P>A | No |
ClinGen TOPMed |
|
|
CA398592953 rs1384184580 |
385 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs201923491 CA288431235 |
386 | Y>H | No |
ClinGen TOPMed |
|
|
CA398592988 rs1338527373 |
388 | A>V | No |
gnomAD ClinGen |
|
|
CA288431238 rs557754934 |
389 | P>L | No |
ClinGen gnomAD |
|
|
CA398593007 rs1597868396 |
391 | H>P | No |
Ensembl ClinGen |
|
|
rs1370044522 CA398593016 |
392 | S>C | No |
ClinGen TOPMed |
|
| TCGA novel | 392 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA398593023 rs1226054204 |
393 | S>F | No |
TOPMed gnomAD ClinGen |
|
|
CA8426711 rs372720962 |
394 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8426713 rs144290841 |
395 | I>V | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA398593048 rs1254657194 |
397 | C>* | No |
gnomAD ClinGen |
|
|
rs1207449138 CA398593046 |
397 | C>F | No |
gnomAD ClinGen |
|
|
rs1207449138 CA398593044 |
397 | C>Y | No |
gnomAD ClinGen |
|
|
rs370740868 CA8426714 |
398 | S>L | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA398593058 rs1238461177 |
399 | A>V | No |
gnomAD ClinGen |
|
|
CA398593067 rs145217563 |
400 | H>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1597868483 CA398593071 |
401 | V>G | No |
Ensembl ClinGen |
|
|
rs756557977 CA398593069 |
401 | V>L | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs756557977 CA8426717 |
401 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
rs1158643631 CA398593077 |
402 | A>S | No |
ClinGen gnomAD |
|
|
rs1597868504 CA398593108 |
404 | V>A | No |
Ensembl ClinGen |
|
|
rs778321001 CA8426718 |
405 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA8426720 rs142722516 |
406 | A>T | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA288431280 rs943348595 |
406 | A>V | No |
ClinGen Ensembl |
|
|
CA8426721 rs774656989 |
407 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1357116437 CA398593166 |
409 | W>* | No |
gnomAD ClinGen |
|
|
CA8426722 rs745937164 |
410 | A>T | No |
ExAC gnomAD ClinGen |
|
|
CA398593186 rs1305809175 |
410 | A>V | No |
gnomAD ClinGen |
|
|
CA398593192 rs1317036340 |
411 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA8426723 rs772147066 COSM3818970 |
411 | R>H | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA398593199 rs1597868600 |
412 | I>L | No |
Ensembl ClinGen |
|
|
rs1212066757 CA398593211 |
413 | V>M | No |
ClinGen gnomAD |
|
|
CA398593232 rs1260130755 |
414 | S>N | No |
gnomAD ClinGen |
|
|
CA398593236 rs760713823 |
414 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs764017987 CA8426726 |
415 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8426728 rs761542780 |
417 | E>K | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA8426730 rs151016611 |
418 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373996132 CA288431305 |
418 | Q>R | No |
ClinGen ESP |
|
|
rs1393210408 CA398593302 |
419 | Q>H | No |
TOPMed gnomAD ClinGen |
|
|
CA398593314 rs1294840890 |
420 | S>I | No |
TOPMed ClinGen |
|
|
rs184038029 CA8426731 |
420 | S>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1174179332 CA398593347 |
423 | P>S | No |
gnomAD ClinGen |
|
|
rs751001689 CA398593376 |
425 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA398593373 rs1297270815 |
425 | S>T | No |
ClinGen gnomAD |
|
|
rs751001689 CA8426733 |
425 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1292938743 CA398593524 |
430 | W>* | No |
ClinGen gnomAD |
|
|
rs770630309 CA288431415 |
430 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs770630309 CA8426772 |
430 | W>C | No |
ExAC gnomAD ClinGen |
|
|
CA398593562 rs1446500828 |
433 | T>I | No |
ClinGen gnomAD |
|
|
CA8426774 rs201308585 |
433 | T>S | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA398593561 rs1446500828 |
433 | T>S | No |
ClinGen gnomAD |
|
|
CA398593573 rs1242612680 |
435 | G>A | No |
gnomAD ClinGen |
|
|
rs752229503 CA8426776 |
436 | R>* | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs376382164 CA8426777 |
436 | R>Q | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA398593582 rs1416722210 |
437 | N>S | No |
gnomAD ClinGen |
|
|
rs186995213 CA8426778 |
439 | A>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1405214472 CA398593600 |
440 | Q>R | No |
ClinGen gnomAD |
|
|
rs890214481 CA288431437 |
441 | E>G | No |
TOPMed ClinGen |
|
|
CA8426779 rs371262121 |
442 | P>L | No |
1000Genomes ESP ExAC gnomAD ClinGen |
|
|
rs1042985836 CA398593642 |
443 | S>* | No |
gnomAD ClinGen |
|
|
rs1042985836 CA288431445 |
443 | S>L | No |
gnomAD ClinGen |
|
|
rs1182080597 CA398593645 |
444 | Q>K | No |
TOPMed ClinGen |
|
|
CA398593661 rs1413321606 |
445 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs376148449 CA8426782 |
445 | R>L | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs376148449 CA8426781 |
445 | R>Q | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs147811258 CA8426783 |
446 | G>E | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA398593679 rs1416932184 |
447 | L>M | No |
gnomAD ClinGen |
|
|
rs1350111873 CA398593698 |
449 | L>M | No |
gnomAD ClinGen |
|
|
CA8426787 rs141275484 |
450 | T>M | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1455880387 CA398594043 |
452 | H>Y | No |
ClinGen gnomAD |
|
|
rs1396060229 CA398594055 |
453 | E>D | No |
gnomAD ClinGen |
|
|
CA8426810 rs771867490 |
453 | E>Q | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA8426812 rs746563628 |
455 | G>S | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA8426814 rs529354628 |
457 | V>M | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA8426816 rs368131949 |
458 | R>K | No |
ESP ExAC gnomAD ClinGen |
|
| TCGA novel | 458 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763411085 CA8426815 |
458 | R>W | No |
ExAC gnomAD ClinGen |
|
|
rs1334728254 CA398594103 |
461 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
CA398594119 rs1338497657 |
463 | S>* | No |
gnomAD ClinGen |
|
|
CA398594121 rs1338497657 |
463 | S>L | Variant assessed as Somatic; 9.311e-05 impact. [NCI-TCGA] | No |
gnomAD ClinGen NCI-TCGA |
|
rs776966875 CA8426819 |
466 | A>V | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA8426822 rs764124548 |
468 | R>Q | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA8426823 rs544675510 |
469 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs761575582 CA8426825 |
470 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs149027239 CA8426827 |
471 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA398594185 rs1415904646 |
474 | S>R | No |
TOPMed gnomAD ClinGen |
|
|
CA8426828 rs779878241 |
475 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746693280 CA8426829 |
477 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs200589712 CA8426830 |
478 | L>F | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
rs549478417 CA288431762 |
483 | C>R | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs549478417 CA8426831 |
483 | C>S | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA8426832 rs747682790 |
484 | E>G | No |
ExAC gnomAD ClinGen |
|
|
CA398594278 rs1325693797 |
485 | H>P | No |
ClinGen gnomAD |
|
|
rs1063682 CA288431766 |
486 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1063682 CA8426834 |
486 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA398594339 rs772373097 |
490 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759924065 CA8426835 |
490 | A>T | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA8426836 rs772373097 |
490 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA398594355 rs1597871252 |
491 | Q>H | No |
Ensembl ClinGen |
|
|
CA8426838 rs148379302 |
493 | A>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA398594391 rs1567691558 |
494 | E>D | No |
Ensembl ClinGen |
|
|
rs761888691 CA8426841 |
494 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs750340360 CA8426843 |
496 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1400878692 CA398594448 |
498 | P>L | No |
TOPMed ClinGen |
|
|
CA8426845 rs780035374 |
499 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8426846 COSM3937277 rs751365881 |
501 | R>C | oesophagus [Cosmic] | No |
ExAC TOPMed gnomAD ClinGen cosmic curated |
|
rs371648907 CA8426847 |
501 | R>H | No |
ESP ExAC gnomAD ClinGen |
|
|
rs371648907 CA398594481 |
501 | R>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1597871501 CA398594596 |
507 | D>E | No |
Ensembl ClinGen |
|
|
rs1567691664 CA398594584 |
507 | D>N | No |
Ensembl ClinGen |
|
|
rs1420293004 CA398594610 |
508 | P>L | No |
gnomAD ClinGen |
|
|
CA8426861 rs202012728 |
511 | D>E | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
rs766407468 CA8426862 |
512 | D>E | No |
ExAC gnomAD ClinGen |
|
|
CA398594656 rs1373442315 |
512 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
gnomAD ClinGen NCI-TCGA |
|
rs751327252 CA398594674 |
513 | P>S | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA8426863 rs751327252 |
513 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs372430699 CA398594686 |
514 | R>P | No |
ESP TOPMed gnomAD ClinGen |
|
|
CA288431793 rs372430699 |
514 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed gnomAD |
|
CA288431794 rs952086581 |
515 | L>F | No |
TOPMed gnomAD ClinGen |
|
|
CA398594708 rs1389190696 |
516 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA8426866 rs145135032 |
517 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8426865 rs145135032 |
517 | V>M | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
| TCGA novel | 518 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA288431804 rs1001456408 |
518 | Q>R | No |
ClinGen TOPMed |
|
|
rs1395698871 CA398594729 |
519 | K>M | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 520 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs200183472 CA8426869 |
521 | A>G | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA8426868 rs200183472 |
521 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1347642646 CA398594744 |
522 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA398594743 rs1347642646 |
522 | L>V | No |
TOPMed gnomAD ClinGen |
|
|
rs758961125 CA8426870 |
524 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1466779777 CA398594785 |
526 | T>A | No |
TOPMed ClinGen |
|
|
CA8426871 rs146378867 |
527 | A>T | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs1441589377 CA398594820 |
529 | M>V | No |
ClinGen gnomAD |
|
|
CA398594858 rs1393148003 |
532 | A>T | No |
gnomAD ClinGen |
|
|
CA398594881 rs1323159739 |
534 | T>A | No |
TOPMed ClinGen |
|
|
CA398594996 rs1320196496 |
538 | V>L | No |
gnomAD ClinGen |
|
|
rs1320196496 CA398594992 |
538 | V>M | No |
ClinGen gnomAD |
|
|
rs138406543 CA288431990 |
539 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA398595004 rs1269813675 |
540 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA8426890 rs755410073 |
542 | E>Q | No |
ClinGen ExAC |
|
|
CA8426891 rs781669092 |
543 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs748514739 CA398595047 |
544 | S>N | No |
ExAC gnomAD ClinGen |
|
|
rs748514739 CA8426892 |
544 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1263478058 CA398595090 |
547 | P>L | No |
ClinGen gnomAD |
|
|
rs1416579219 CA398595124 |
550 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1416579219 CA398595123 |
550 | Q>E | No |
TOPMed gnomAD ClinGen |
|
|
rs1063683 VAR_058711 |
550 | Q>H | No |
UniProt dbSNP |
|
|
rs749413165 CA8426895 |
551 | A>V | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA398595152 rs1343877721 |
552 | V>I | No |
ClinGen gnomAD |
|
|
CA8426898 rs759554948 |
554 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs373780909 CA8426899 |
555 | A>V | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs1230059297 CA398595220 |
557 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1048417132 CA288432021 |
557 | I>V | No |
TOPMed gnomAD ClinGen |
|
| TCGA novel | 558 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA398595246 rs1359446937 |
559 | L>H | No |
TOPMed ClinGen |
|
|
CA398595256 rs1214972176 |
560 | L>F | No |
gnomAD ClinGen |
|
|
CA398595252 rs1214972176 |
560 | L>I | No |
ClinGen gnomAD |
|
|
rs1597872642 CA398595262 |
561 | Q>K | No |
ClinGen Ensembl |
|
|
CA8426902 rs760402511 |
562 | D>E | No |
ExAC gnomAD ClinGen |
|
|
rs763738289 CA8426903 |
563 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8426905 rs377512205 |
563 | R>H | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA8426904 rs377512205 |
563 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs764843900 CA8426906 |
564 | E>K | No |
ExAC gnomAD ClinGen |
|
|
CA8426907 rs749897947 |
567 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1400705772 CA398595354 |
568 | W>* | No |
gnomAD ClinGen |
|
|
rs753120323 CA398595409 |
572 | E>* | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs753120323 CA8426910 |
572 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA8426912 rs531770044 |
573 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
1000Genomes ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
CA8426911 rs756510000 |
573 | R>W | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA8426914 rs771024336 |
575 | S>T | No |
ExAC gnomAD ClinGen |
|
|
CA8426916 rs377198347 |
577 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA288432054 rs1006575220 |
577 | R>H | No |
TOPMed gnomAD ClinGen |
|
|
rs1006575220 CA398595470 |
577 | R>L | No |
TOPMed gnomAD ClinGen |
|
|
CA8426917 rs772059315 |
578 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1279174501 CA398595483 |
579 | G>R | No |
gnomAD ClinGen |
|
|
CA8426920 rs1063685 |
580 | P>L | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA398595498 rs1063685 |
580 | P>Q | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA398595533 rs1278439187 |
583 | W>* | No |
ClinGen TOPMed |
|
|
rs1246242094 CA398595553 |
585 | A>T | No |
gnomAD ClinGen |
|
|
rs764784217 CA8426923 |
587 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA8426924 rs749966761 |
587 | F>L | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA398595576 rs1567692502 |
588 | Q>* | No |
ClinGen Ensembl |
|
|
rs1063686 CA288432071 |
590 | R>C | No |
TOPMed gnomAD ClinGen |
|
|
CA8426925 rs776809019 |
590 | R>H | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs571000675 CA288432082 |
597 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes NCI-TCGA TOPMed |
|
CA8426931 rs757553068 |
598 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs139750751 CA398595760 |
603 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs139750751 CA8426933 |
603 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs780087503 CA8426935 |
604 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1220640932 CA398595833 |
609 | E>K | No |
ClinGen gnomAD |
|
|
CA8426938 rs776468893 |
613 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA398595933 rs1240585109 |
615 | F>Y | No |
gnomAD ClinGen |
|
|
CA398595943 rs1467572089 |
616 | G>S | No |
ClinGen gnomAD |
|
|
CA8426939 rs747843543 |
617 | T>N | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs547373553 CA8426940 |
618 | S>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA8426941 rs772703554 |
619 | H>R | No |
ExAC gnomAD ClinGen |
|
|
rs536563008 CA8426944 |
625 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1392367069 CA398596104 |
626 | Y>C | No |
TOPMed gnomAD ClinGen |
|
|
rs1392367069 CA398596102 |
626 | Y>S | No |
ClinGen TOPMed gnomAD |
|
|
CA8426945 rs374938197 |
627 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8426946 rs764681199 |
628 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs144655159 CA8426947 |
628 | R>H | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs144655159 CA398596136 |
628 | R>L | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs757496603 CA8426948 |
629 | K>E | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1381742172 CA398596176 |
630 | S>R | No |
TOPMed gnomAD ClinGen |
|
|
CA8426949 rs765526913 |
631 | P>S | No |
ExAC gnomAD ClinGen |
|
|
CA8426950 rs140611231 |
633 | L>P | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA398596203 rs1316852425 |
633 | L>V | No |
gnomAD ClinGen |
|
|
CA398596216 rs1164212159 |
634 | A>S | No |
ClinGen TOPMed |
|
|
rs758589415 CA8426951 |
635 | R>G | No |
ExAC gnomAD ClinGen |
|
|
rs1420033864 CA398597372 |
639 | H>D | No |
TOPMed gnomAD ClinGen |
|
|
CA398597385 rs1597873710 |
639 | H>P | No |
ClinGen Ensembl |
|
|
CA398597376 rs1420033864 |
639 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1050330292 CA288433475 |
640 | P>R | No |
Ensembl ClinGen |
|
|
CA8426981 rs377588818 |
641 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8426979 rs369658890 |
641 | N>S | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA398597504 rs1339260331 |
645 | A>V | No |
TOPMed ClinGen |
|
|
rs771657062 CA8426982 |
646 | M>I | No |
ExAC ClinGen |
|
|
rs1454153481 CA398597520 |
646 | M>R | No |
ClinGen TOPMed |
|
|
rs1397470665 CA398597560 |
648 | G>D | No |
ClinGen TOPMed |
|
|
rs775042224 CA8426983 |
648 | G>S | No |
ExAC gnomAD ClinGen |
|
|
CA8426985 rs770323651 |
649 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA8426987 rs763236973 |
651 | S>F | No |
ExAC gnomAD ClinGen |
|
|
CA8426988 rs766623464 |
652 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA8426989 rs751735771 |
652 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751735771 CA8426991 |
652 | R>P | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA8426990 COSM1679629 rs751735771 |
652 | R>Q | Variant assessed as Somatic; 0.0 impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] | No |
ExAC TOPMed gnomAD ClinGen cosmic curated NCI-TCGA |
|
CA398597622 rs766623464 |
652 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs752814889 CA8426992 |
653 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1436132822 CA398597673 |
655 | S>T | No |
gnomAD ClinGen |
|
|
rs777704176 CA8426995 |
656 | L>V | No |
ExAC gnomAD ClinGen |
|
|
rs1379571928 CA398597779 |
661 | R>C | No |
TOPMed gnomAD ClinGen |
|
|
CA8426996 COSM976242 rs138562673 |
661 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs200739800 CA8426997 |
662 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs778729916 CA8426998 |
663 | S>F | No |
ExAC ClinGen |
|
|
CA8427000 rs771752705 |
664 | F>L | No |
ExAC gnomAD ClinGen |
|
|
rs376194405 CA8427001 |
665 | R>Q | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA288433525 rs182677018 |
665 | R>W | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA8427002 rs746469588 |
666 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8427003 rs770208654 |
666 | R>H | Variant assessed as Somatic; 4.761e-05 impact. [NCI-TCGA] | No |
ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
CA398597852 rs746469588 |
666 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA398597861 rs1301778941 |
667 | I>M | No |
gnomAD ClinGen |
|
|
CA8427004 rs147834323 |
667 | I>V | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA398597864 rs1311945895 |
668 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA8427006 rs531828914 |
668 | R>H | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
CA8427005 rs531828914 |
668 | R>P | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
rs1479716864 CA398597874 |
669 | K>E | No |
ClinGen gnomAD |
|
|
CA398597883 rs759817745 |
669 | K>N | No |
ExAC gnomAD ClinGen |
|
|
rs370235992 CA8427009 |
670 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA398597912 rs1458206874 |
671 | R>C | No |
gnomAD ClinGen |
|
|
rs374663368 CA8427010 |
671 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ESP ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
CA8427011 rs374663368 |
671 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8427012 rs763968580 |
674 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA398598012 rs1176366997 |
676 | K>E | No |
gnomAD ClinGen |
|
|
rs757236980 CA8427014 |
677 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA8427013 rs377439323 |
677 | R>W | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1169411774 CA398598098 |
681 | A>T | No |
ClinGen gnomAD |
|
|
CA398598111 rs1400383134 |
681 | A>V | No |
ClinGen gnomAD |
|
|
rs1449701375 CA398598119 |
682 | S>C | No |
ClinGen gnomAD |
|
|
rs1324448024 CA398598122 |
682 | S>N | No |
gnomAD ClinGen |
|
|
CA8427015 rs778891148 |
682 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1387668413 CA398598145 |
683 | S>N | No |
gnomAD ClinGen |
|
|
rs750231815 CA8427017 |
684 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs750231815 CA8427016 |
684 | K>T | No |
ExAC gnomAD ClinGen |
|
| TCGA novel | 685 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs765210628 CA398598268 |
686 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8427033 rs765210628 |
686 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA398598333 rs1567693533 |
689 | N>H | No |
Ensembl ClinGen |
|
|
rs140298639 CA8427034 |
689 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8427035 rs371605062 |
690 | A>T | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs765973200 CA8427036 |
693 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1379946062 CA398598430 |
694 | E>V | No |
ClinGen gnomAD |
|
|
CA8427037 rs751277985 |
696 | A>D | No |
ExAC gnomAD ClinGen |
|
|
CA288433724 rs751277985 |
696 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs111836247 CA398598498 |
697 | C>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs111836247 RCV000955519 CA8427038 |
697 | C>Y | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs529634225 CA288433728 |
698 | P>L | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
rs529634225 CA8427039 |
698 | P>R | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
rs1286305114 CA398598518 |
699 | H>N | No |
ClinGen TOPMed gnomAD |
|
|
CA398598525 rs1172079015 |
699 | H>P | No |
TOPMed ClinGen |
|
|
CA8427041 rs150963270 |
699 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1286305114 CA398598523 |
699 | H>Y | No |
TOPMed gnomAD ClinGen |
|
|
rs746245675 CA8427043 |
700 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374576025 CA8427045 |
701 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 702 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs747293622 CA8427046 |
703 | M>V | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs367727740 CA398598612 |
704 | T>K | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs367727740 CA8427047 |
704 | T>M | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs1184140144 CA398598607 |
704 | T>S | No |
gnomAD ClinGen |
|
|
CA8427049 rs761920223 |
706 | V>M | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1323584704 CA398598644 |
707 | Q>R | No |
ClinGen TOPMed |
|
|
rs1427717726 CA398598655 |
708 | R>C | No |
TOPMed gnomAD ClinGen |
|
|
rs145768685 CA8427051 |
708 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8427052 rs762781844 |
709 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8427053 rs766240619 |
709 | R>H | Variant assessed as Somatic; 4.746e-05 impact. [NCI-TCGA] | No |
ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
CA398598670 rs766240619 |
709 | R>L | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA8427055 rs754721408 |
713 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767095694 CA8427056 |
713 | R>H | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA8427057 rs767095694 |
713 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs186632359 CA8427058 |
715 | A>V | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs779411587 CA8427059 |
716 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1235811122 CA398598726 |
717 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
CA398598735 rs1420423222 |
718 | S>F | No |
ClinGen TOPMed |
|
|
rs1179779082 CA398598738 |
719 | L>S | No |
gnomAD ClinGen |
|
|
CA8427061 rs150088817 |
720 | S>L | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs747320752 CA8427063 |
721 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA288433799 rs1054009589 |
723 | V>M | No |
ClinGen TOPMed |
|
|
rs138380942 CA8427065 |
724 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ESP ExAC gnomAD ClinGen NCI-TCGA |
|
COSM976244 CA398598766 rs1168692993 |
724 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs773136651 CA8427068 |
727 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1337336803 CA398598790 |
728 | F>V | No |
gnomAD ClinGen |
|
|
rs553954291 CA8427071 |
730 | D>E | No |
1000Genomes ExAC gnomAD ClinGen |
|
|
CA8427070 rs770764753 |
730 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA8427074 rs752294347 |
732 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA398598828 rs760297874 |
734 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC gnomAD ClinGen NCI-TCGA |
|
CA8427075 rs760297874 |
734 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs763698681 CA8427076 |
735 | D>V | No |
ExAC gnomAD ClinGen |
|
|
rs749412345 CA8427110 |
737 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs745844805 CA8427113 |
738 | H>Q | No |
ExAC gnomAD ClinGen |
|
|
rs779025594 CA8427112 |
738 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA398599725 rs771990753 |
739 | H>D | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs771990753 CA8427115 |
739 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752464459 CA8427117 |
739 | H>Q | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs771990753 CA8427114 |
739 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776098319 CA8427118 |
740 | G>R | No |
ExAC gnomAD ClinGen |
|
|
CA8427119 rs761506647 |
741 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1426633626 CA398599781 |
742 | T>P | No |
gnomAD ClinGen |
|
|
CA398599803 rs1351145641 |
743 | M>I | No |
ClinGen TOPMed |
|
|
CA398599793 rs1254226083 |
743 | M>V | No |
gnomAD ClinGen |
|
| TCGA novel | 745 | A>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8427121 rs772847310 |
745 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1385714475 CA398599843 |
746 | G>S | No |
gnomAD ClinGen |
|
|
CA288435050 rs943949485 |
748 | N>S | No |
ClinGen Ensembl |
|
|
CA8427123 rs373022414 |
749 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1419975310 CA398599952 |
752 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA8427124 rs753120501 |
752 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 753 | F>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs899664455 CA288435060 |
754 | A>T | No |
ClinGen Ensembl |
|
|
rs376499580 CA288435064 |
754 | A>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1044239600 CA288435078 |
759 | V>G | No |
TOPMed ClinGen |
|
|
rs754054096 CA8427128 CA8427127 |
759 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs779030616 CA8427129 |
760 | P>L | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs138439781 CA288435082 |
762 | A>T | No |
ESP TOPMed ClinGen |
|
|
rs1597878326 CA398600135 |
762 | A>V | No |
ClinGen Ensembl |
|
|
rs371026248 CA8427133 |
764 | V>L | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs371026248 CA398600158 |
764 | V>M | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA8427134 rs779899852 |
767 | E>K | No |
ExAC gnomAD ClinGen |
|
|
CA398600271 rs746829631 |
769 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA288435101 rs762237113 |
769 | R>Q | No |
ClinGen Ensembl |
|
|
CA8427135 rs746829631 |
769 | R>W | No |
ExAC gnomAD ClinGen |
|
|
rs1201050179 CA398600282 |
770 | P>R | No |
gnomAD ClinGen |
|
|
rs1344405027 CA398600277 |
770 | P>S | No |
gnomAD ClinGen |
|
|
rs1311993467 CA398600321 |
772 | Q>R | No |
TOPMed ClinGen |
|
|
CA8427136 rs768385606 |
773 | A>V | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA398600352 rs1313348836 |
774 | V>M | No |
gnomAD ClinGen |
|
|
rs1176668823 CA398600393 |
776 | A>T | No |
ClinGen gnomAD |
|
|
rs200044915 CA8427139 |
777 | V>L | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs200044915 CA8427140 COSM1381314 |
777 | V>M | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs1160882932 CA398600442 |
779 | G>S | No |
ClinGen gnomAD |
|
|
CA288435131 rs71367438 |
781 | E>K | No |
ClinGen Ensembl |
|
|
rs1597878483 CA398600491 |
782 | V>G | No |
ClinGen Ensembl |
|
|
CA398600502 rs1176607445 |
783 | Q>* | No |
ClinGen gnomAD |
|
|
rs1354016846 CA398600510 |
783 | Q>R | No |
TOPMed gnomAD ClinGen |
|
|
CA398600577 rs776086566 |
786 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1010301473 CA288435139 |
786 | H>R | No |
TOPMed ClinGen |
|
|
CA398600564 rs1331204481 |
786 | H>Y | No |
gnomAD ClinGen |
|
|
rs1013140459 CA288435166 |
787 | R>Q | No |
gnomAD ClinGen |
|
|
rs761220197 CA8427145 |
787 | R>W | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA398600599 rs1330800868 |
788 | A>T | No |
ClinGen gnomAD |
|
|
CA8427146 rs764402601 |
788 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA398600653 rs1416165320 |
791 | V>M | No |
ClinGen TOPMed |
|
|
rs765385109 CA8427149 |
793 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA398600719 rs1257304921 |
794 | A>V | No |
gnomAD ClinGen |
|
|
CA8427151 rs371253354 |
795 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8427152 rs780085591 |
796 | L>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8427154 rs754941025 |
798 | G>R | No |
ExAC gnomAD ClinGen |
|
|
rs973507004 CA288435246 |
799 | R>C | No |
gnomAD ClinGen |
|
|
rs780909473 CA8427155 |
799 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
rs747922114 CA8427156 |
800 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769578330 CA8427157 |
801 | R>C | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs777531176 CA8427158 |
801 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs148326696 CA288435293 |
805 | E>K | No |
ClinGen ESP gnomAD |
|
|
CA8427160 rs770610597 |
806 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs761149558 CA8427162 |
807 | Y>H | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs962174759 CA288435312 |
808 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA398600934 rs1307362627 |
809 | A>G | No |
TOPMed ClinGen |
|
|
CA8427164 rs776872146 |
809 | A>S | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs751648322 CA8427170 |
811 | R>Q | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs368288709 CA8427169 |
811 | R>W | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs1184013270 CA398600995 |
812 | D>V | No |
ClinGen TOPMed |
|
|
CA8427173 rs575121495 |
814 | A>E | No |
1000Genomes ExAC gnomAD ClinGen |
|
|
CA288435363 rs575121495 |
814 | A>V | No |
1000Genomes ExAC gnomAD ClinGen |
|
|
CA8427175 rs777686147 |
816 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1399620566 CA398601070 |
816 | A>V | No |
ClinGen gnomAD |
|
|
CA288435374 rs1063688 |
818 | D>H | No |
ClinGen TOPMed |
|
|
CA398601098 rs1063688 |
818 | D>N | No |
TOPMed ClinGen |
|
|
rs1063688 CA398601100 |
818 | D>Y | No |
ClinGen TOPMed |
|
|
CA398601135 rs902971774 CA288435397 |
819 | M>I | No |
gnomAD ClinGen |
|
|
rs1289558675 CA398601122 CA398601118 |
819 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1320791785 CA398601155 |
820 | Q>R | No |
ClinGen TOPMed |
|
|
rs1364140346 CA398601169 |
821 | G>S | No |
ClinGen gnomAD |
|
|
CA288435413 rs998576964 |
822 | G>S | No |
gnomAD ClinGen |
|
|
rs1310435977 CA398601206 |
823 | H>Y | No |
gnomAD ClinGen |
|
|
CA398601228 rs1246363175 |
824 | A>T | No |
gnomAD ClinGen |
|
| TCGA novel | 824 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8427177 rs770700565 |
825 | V>A | No |
ExAC gnomAD ClinGen |
|
|
CA398601261 rs1242245617 |
826 | L>F | No |
ClinGen gnomAD |
|
|
CA288435436 rs927210820 |
827 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
COSM976246 rs769047769 CA8427180 |
828 | A>T | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA8427181 rs777155560 |
828 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA398601371 rs1160037993 |
831 | E>K | No |
gnomAD ClinGen |
|
|
rs1445826394 CA398601388 |
832 | Q>E | No |
gnomAD ClinGen |
|
|
rs1301025525 CA398601418 |
833 | F>L | No |
ClinGen gnomAD |
|
|
rs1382016360 CA398601428 |
834 | K>R | No |
TOPMed gnomAD ClinGen |
|
|
CA8427201 rs770273813 |
837 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA8427202 rs773581655 |
839 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA398601580 rs1433873177 |
842 | S>N | No |
ClinGen gnomAD |
|
|
rs774588509 CA8427205 |
843 | A>T | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA8427206 rs202238913 |
843 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8427208 rs147425213 |
845 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs753689203 CA398601634 |
850 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753689203 CA8427211 |
850 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC TOPMed gnomAD ClinGen NCI-TCGA |
| TCGA novel | 851 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8427213 rs764819010 |
852 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs757983633 CA8427215 |
853 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA398601655 rs56406965 |
853 | E>D | No |
ClinGen gnomAD |
|
|
rs773392427 CA8427217 |
855 | C>Y | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA8427218 rs370606765 |
856 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8427219 rs778217024 |
856 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
CA398601672 rs778217024 |
856 | R>L | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1302175961 CA398601677 |
857 | V>A | No |
gnomAD ClinGen |
|
|
CA8427220 rs139736306 |
858 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8427221 rs374323156 |
858 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8427222 rs201514093 |
861 | A>T | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA8427223 rs746164885 |
861 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA8427225 rs149935184 |
864 | T>K | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs149935184 CA8427226 |
864 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA288436091 rs56367302 |
867 | S>N | No |
ClinGen Ensembl |
|
|
rs761633860 CA8427229 |
871 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA398601757 rs1261196043 |
871 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
gnomAD ClinGen NCI-TCGA |
|
rs1243730400 CA398601770 |
872 | D>E | No |
TOPMed gnomAD ClinGen |
|
|
CA8427230 rs544061480 |
872 | D>G | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
CA398601775 rs1471758694 |
873 | Y>C | No |
ClinGen gnomAD |
|
|
CA398601772 rs1399853987 |
873 | Y>H | No |
gnomAD ClinGen |
|
|
rs1385631206 CA398601796 |
876 | T>I | No |
ClinGen gnomAD |
|
|
rs1597880191 CA398601793 |
876 | T>P | No |
ClinGen Ensembl |
|
|
rs1156396016 CA398601802 |
877 | C>Y | No |
TOPMed gnomAD ClinGen |
|
|
CA8427233 rs765883586 |
879 | A>V | No |
ClinGen ExAC |
|
|
rs1320876946 CA398601829 |
881 | L>P | No |
ClinGen gnomAD |
|
|
CA398601835 rs1452507148 |
882 | T>S | No |
ClinGen gnomAD |
|
|
CA8427236 rs780662788 |
884 | L>V | No |
ExAC gnomAD ClinGen |
|
|
rs1376913641 CA398601866 |
887 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA8427238 rs368324953 |
887 | V>I | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA8427240 rs746158258 |
889 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA8427241 rs772341281 |
890 | F>C | No |
ClinGen ExAC |
|
|
rs1182899552 CA398601893 |
891 | S>L | No |
TOPMed gnomAD ClinGen |
|
|
rs1446160158 CA398601895 |
892 | V>L | No |
ClinGen gnomAD |
|
|
CA398601902 rs1179261251 |
893 | P>S | No |
gnomAD ClinGen |
|
|
rs148650631 CA8427243 |
894 | G>A | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs1035106704 CA288436210 |
896 | R>Q | No |
TOPMed gnomAD ClinGen |
|
|
CA8427245 rs776846353 |
896 | R>W | No |
ExAC gnomAD ClinGen |
|
|
rs372321860 CA8427246 |
897 | P>R | No |
ESP ExAC gnomAD ClinGen |
|
|
rs1063691 CA288436228 |
898 | Q>E | No |
ClinGen Ensembl |
|
|
rs1349461957 CA398601927 |
898 | Q>R | No |
TOPMed ClinGen |
|
|
CA398601931 rs1337894246 |
899 | V>M | No |
TOPMed gnomAD ClinGen |
|
|
rs200261115 CA8427248 |
900 | H>R | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA8427250 rs766039892 |
902 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA398601973 rs1445509696 |
904 | I>M | No |
TOPMed ClinGen |
|
|
rs372721254 CA8427251 |
904 | I>V | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs374728959 CA8427252 |
905 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA398601977 rs1241448295 COSM1381315 |
905 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
gnomAD ClinGen cosmic curated NCI-TCGA |
|
rs1313438656 CA398601991 |
906 | K>* | No |
TOPMed ClinGen |
|
|
CA288436299 rs920246553 |
908 | D>N | No |
ClinGen Ensembl |
|
|
rs767085574 CA8427253 |
909 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8427255 rs752194023 |
910 | S>R | No |
ExAC gnomAD ClinGen |
|
|
rs368834647 CA8427256 |
911 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs750833588 CA8427257 |
912 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA8427259 COSM976248 rs546007050 |
913 | A>T | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1419371061 CA398602087 |
914 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
CA398602099 rs1426603015 |
915 | C>Y | No |
gnomAD ClinGen |
|
|
CA8427262 rs781433997 |
916 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA398602156 rs1298034286 |
918 | T>M | No |
ClinGen gnomAD |
|
|
rs146676364 CA8427266 |
919 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM976254 CA8427267 rs749223309 |
919 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA398602181 rs1258609297 |
920 | H>R | No |
ClinGen TOPMed |
|
|
rs770749833 CA8427268 |
920 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA8427296 rs546417717 |
924 | F>L | No |
1000Genomes ExAC gnomAD ClinGen |
|
|
CA398603499 rs1425596468 |
929 | P>A | No |
TOPMed gnomAD ClinGen |
|
| TCGA novel | 929 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 930 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 931 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8427297 rs566558385 |
931 | E>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA8427300 rs767898770 |
932 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs752002417 CA8427298 |
932 | F>L | No |
ExAC gnomAD ClinGen |
|
|
rs755343498 CA8427299 |
932 | F>S | No |
ExAC gnomAD ClinGen |
|
|
CA8427301 rs765248170 |
934 | R>C | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA8427302 rs756351159 |
934 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs983088433 CA288437232 |
936 | S>T | No |
Ensembl ClinGen |
|
|
CA8427304 rs753901245 |
937 | L>V | No |
ExAC gnomAD ClinGen |
|
|
rs907559516 CA288437248 |
938 | S>N | No |
TOPMed gnomAD ClinGen |
|
|
rs367698200 CA8427306 |
940 | R>Q | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs757193789 CA8427305 |
940 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1260770571 CA398603622 |
942 | I>V | No |
ClinGen gnomAD |
|
|
rs140224169 CA8427308 |
943 | T>I | No |
ESP ExAC gnomAD ClinGen |
|
|
CA8427310 rs746707281 |
945 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776008239 CA8427312 |
946 | L>F | No |
ExAC gnomAD ClinGen |
|
|
CA8427313 rs756544370 |
947 | C>* | No |
ClinGen ExAC |
|
|
CA8427316 rs771585541 |
948 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1347029868 CA398603715 |
950 | D>N | No |
gnomAD ClinGen |
|
| TCGA novel | 950 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1597881140 CA398603732 |
951 | I>V | No |
ClinGen Ensembl |
|
|
rs760086303 CA8427318 |
952 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767833603 CA8427319 |
953 | W>* | No |
ExAC gnomAD ClinGen |
|
|
rs1370777305 CA398603782 |
954 | P>R | No |
gnomAD ClinGen |
|
|
rs753088713 CA8427320 |
954 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753088713 CA398603775 |
954 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760825714 COSM96804 CA8427321 |
955 | R>C | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ExAC TOPMed gnomAD ClinGen cosmic curated |
|
rs145213300 CA8427322 |
955 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs145213300 CA288437308 |
955 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8427325 rs200133079 |
956 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
rs1263015990 CA398603821 |
957 | A>V | No |
gnomAD ClinGen |
|
|
rs1462060257 CA398603860 |
959 | Q>H | No |
gnomAD ClinGen |
|
|
rs758352284 CA8427328 |
960 | A>D | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs750401231 CA8427326 |
960 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs758352284 CA8427327 |
960 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs146640740 CA8427329 |
961 | S>T | No |
ClinGen ESP ExAC TOPMed |
|
|
rs1463146391 CA398604037 |
964 | I>V | No |
ClinGen TOPMed |
|
|
CA8427347 rs537626619 |
965 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA288437494 rs537626619 |
965 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA398604055 rs758272132 |
965 | R>P | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs758272132 CA8427348 |
965 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1007327686 CA398604062 |
966 | E>* | No |
TOPMed gnomAD ClinGen |
|
|
CA288437516 rs1007327686 |
966 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA8427350 rs751331580 |
968 | P>R | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs766299600 CA8427349 |
968 | P>S | No |
ExAC gnomAD ClinGen |
|
|
rs1402718142 CA398604111 |
969 | K>R | No |
ClinGen gnomAD |
|
|
CA288437520 rs113789104 |
970 | L>P | No |
ClinGen Ensembl |
|
|
CA8427352 rs781100746 |
971 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs747874447 CA8427353 |
972 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA8427354 rs755811344 |
974 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
CA8427356 rs780960319 |
975 | G>R | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs772491096 CA8427357 |
977 | P>A | No |
ExAC gnomAD ClinGen |
|
|
CA8427358 rs150245335 |
977 | P>L | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs368197421 CA8427359 |
978 | S>G | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs762080475 CA8427362 |
982 | A>V | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs773311507 CA8427364 |
983 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1287036922 CA398604320 |
984 | Q>E | No |
ClinGen TOPMed |
|
|
CA8427365 rs763039590 |
985 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs149387516 CA8427366 |
985 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1406553043 CA398604395 |
988 | G>A | No |
gnomAD ClinGen |
|
| TCGA novel | 988 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA398604421 rs1448658070 |
990 | P>R | No |
ClinGen gnomAD |
|
| TCGA novel | 991 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1391788447 CA398604459 |
992 | P>L | No |
TOPMed ClinGen |
|
|
CA398604466 rs1326400002 |
993 | A>S | No |
gnomAD ClinGen |
|
|
CA398604472 rs1164008398 |
993 | A>V | No |
TOPMed ClinGen |
|
|
rs1597881916 CA398604496 |
995 | S>R | No |
Ensembl ClinGen |
|
|
CA8427371 rs755829668 |
996 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777531029 CA8427372 |
997 | G>R | No |
ExAC gnomAD ClinGen |
|
|
CA8427374 rs756844509 |
998 | P>L | No |
ExAC gnomAD ClinGen |
|
|
CA398604563 rs1203519133 |
999 | D>H | No |
TOPMed gnomAD ClinGen |
|
|
rs1203519133 CA398604559 |
999 | D>N | No |
TOPMed gnomAD ClinGen |
|
|
CA288437951 rs978312386 |
1000 | T>I | No |
TOPMed ClinGen |
|
|
CA398604632 rs1597882367 |
1000 | T>P | No |
Ensembl ClinGen |
|
|
rs143856264 CA8427389 |
1001 | P>A | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA8427390 rs548640506 |
1001 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs778545274 CA8427392 |
1004 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA8427394 rs755481281 |
1005 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC gnomAD ClinGen NCI-TCGA |
|
rs781626874 CA8427395 |
1007 | A>T | No |
ExAC gnomAD ClinGen |
|
|
rs748632290 CA8427396 |
1008 | L>F | No |
ExAC gnomAD ClinGen |
|
|
rs377496629 CA8427397 |
1010 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1230363788 CA398604779 |
1011 | M>T | No |
gnomAD ClinGen |
|
|
CA398604795 rs1213554926 |
1012 | S>T | No |
TOPMed ClinGen |
|
|
CA8427400 rs2290510 |
1013 | I>M | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs777994495 CA8427398 |
1013 | I>V | No |
ExAC gnomAD ClinGen |
|
|
CA398604825 rs1256379537 |
1014 | D>G | No |
ClinGen gnomAD |
|
|
CA8427401 rs774490299 |
1014 | D>N | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA398604821 rs774490299 |
1014 | D>Y | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1313608479 CA398604844 |
1015 | S>L | No |
TOPMed ClinGen |
|
|
rs1245605334 CA398604855 |
1016 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 1017 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs147236233 CA288438016 |
1021 | T>A | No |
ESP TOPMed gnomAD ClinGen |
|
|
CA398604930 rs1193747098 |
1021 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA8427402 rs139770091 |
1022 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA288438025 rs975803890 |
1024 | D>Y | No |
ClinGen Ensembl |
|
|
CA8427403 rs141785202 |
1025 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA398604982 rs1475191155 |
1025 | T>M | No |
TOPMed ClinGen |
|
|
CA288438026 rs181243082 |
1026 | T>I | No |
ClinGen 1000Genomes |
|
| TCGA novel | 1028 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8427408 rs764049583 |
1028 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8427407 rs764049583 |
1028 | D>N | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs145328108 CA8427412 |
1029 | V>A | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA8427410 rs374758088 |
1029 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ESP ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
CA8427411 rs374758088 |
1029 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 1030 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1411894053 CA398605041 |
1034 | V>M | No |
gnomAD ClinGen |
|
|
TCGA novel CA398605051 rs1344900825 |
1035 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen gnomAD NCI-TCGA |
| TCGA novel | 1037 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs12944747 CA288438254 |
1040 | S>F | No |
ClinGen Ensembl |
|
|
rs12944748 CA398605105 |
1041 | S>C | No |
gnomAD ClinGen |
|
|
rs12944748 CA288438257 |
1041 | S>F | No |
ClinGen gnomAD |
|
|
rs776480787 CA8427446 |
1042 | E>A | No |
ExAC gnomAD ClinGen |
|
|
rs1269264604 CA398605128 |
1043 | E>G | No |
TOPMed gnomAD ClinGen |
|
|
CA288438289 rs868564294 |
1046 | K>N | No |
ClinGen gnomAD |
|
|
CA398605178 rs1597883125 |
1047 | N>D | No |
Ensembl ClinGen |
|
|
CA288438293 rs979703198 |
1047 | N>I | No |
Ensembl ClinGen |
|
|
CA398605208 rs1483732508 |
1049 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1183754896 CA398605214 |
1050 | N>D | No |
gnomAD ClinGen |
|
|
rs139560669 CA288438306 |
1050 | N>K | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1384645713 CA398605240 |
1052 | A>S | No |
TOPMed ClinGen |
|
|
rs1159977138 CA398605245 |
1052 | A>V | No |
ClinGen gnomAD |
|
|
rs149699735 CA8427450 |
1055 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA398605288 rs1358302873 |
1056 | A>T | No |
gnomAD ClinGen |
|
|
rs866303561 CA288438308 |
1057 | H>N | No |
TOPMed ClinGen |
|
|
rs866303561 CA398605294 |
1057 | H>Y | No |
TOPMed ClinGen |
|
|
CA398605309 rs146701026 |
1058 | A>P | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA8427451 rs146701026 COSM976258 |
1058 | A>T | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA8427452 rs564274000 |
1058 | A>V | No |
1000Genomes ExAC gnomAD ClinGen |
|
|
CA288438340 rs573168513 |
1059 | C>R | No |
gnomAD ClinGen |
|
|
CA288438343 rs918103135 |
1060 | A>D | No |
ClinGen gnomAD |
|
|
CA398605342 rs918103135 |
1060 | A>V | No |
gnomAD ClinGen |
|
|
rs1222204199 CA398605348 |
1061 | I>F | No |
ClinGen gnomAD |
|
|
rs1262920068 CA398605358 |
1062 | L>M | No |
gnomAD ClinGen |
|
|
rs1212547463 CA398605369 |
1063 | I>L | No |
ClinGen gnomAD |
No associated diseases with Q15334
6 regional properties for Q15334
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| repeat | WD40 repeat | 18 - 62 | IPR001680-1 |
| repeat | WD40 repeat | 64 - 103 | IPR001680-2 |
| repeat | WD40 repeat | 188 - 224 | IPR001680-3 |
| repeat | WD40 repeat | 227 - 265 | IPR001680-4 |
| repeat | WD40 repeat | 425 - 461 | IPR001680-5 |
| domain | Lethal giant larvae homologue 2 | 280 - 380 | IPR013577 |
Functions
10 GO annotations of cellular component
| Name | Definition |
|---|---|
| adherens junction | A cell-cell junction composed of the epithelial cadherin-catenin complex. The epithelial cadherins, or E-cadherins, of each interacting cell extend through the plasma membrane into the extracellular space and bind to each other. The E-cadherins bind to catenins on the cytoplasmic side of the membrane, where the E-cadherin-catenin complex binds to cytoskeletal components and regulatory and signaling molecules. |
| axon | The long process of a neuron that conducts nerve impulses, usually away from the cell body to the terminals and varicosities, which are sites of storage and release of neurotransmitter. |
| cortical actin cytoskeleton | The portion of the actin cytoskeleton, comprising filamentous actin and associated proteins, that lies just beneath the plasma membrane. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytoskeleton | A cellular structure that forms the internal framework of eukaryotic and prokaryotic cells. The cytoskeleton includes intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles. |
| early endosome membrane | The lipid bilayer surrounding an early endosome. |
| Golgi cis cisterna | The Golgi cisterna closest to the endoplasmic reticulum; the first processing compartment through which proteins pass after export from the ER. |
| Golgi membrane | The lipid bilayer surrounding any of the compartments of the Golgi apparatus. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| trans-Golgi network membrane | The lipid bilayer surrounding any of the compartments that make up the trans-Golgi network. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| GTPase activator activity | Binds to and increases the activity of a GTPase, an enzyme that catalyzes the hydrolysis of GTP. |
| myosin II binding | Binding to a class II myosin, any member of the class of 'conventional' double-headed myosins that includes muscle myosin. |
| protein kinase binding | Binding to a protein kinase, any enzyme that catalyzes the transfer of a phosphate group, usually from ATP, to a protein substrate. |
| structural molecule activity | The action of a molecule that contributes to the structural integrity of a complex or its assembly within or outside a cell. |
10 GO annotations of biological process
| Name | Definition |
|---|---|
| axonogenesis | De novo generation of a long process of a neuron, including the terminal branched region. Refers to the morphogenesis or creation of shape or form of the developing axon, which carries efferent (outgoing) action potentials from the cell body towards target cells. |
| cortical actin cytoskeleton organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of actin-based cytoskeletal structures in the cell cortex, i.e. just beneath the plasma membrane. |
| establishment of spindle orientation | Any process that set the alignment of spindle relative to other cellular structures. |
| establishment or maintenance of epithelial cell apical/basal polarity | Any cellular process that results in the specification, formation or maintenance of the apicobasal polarity of an epithelial cell. |
| exocytosis | A process of secretion by a cell that results in the release of intracellular molecules (e.g. hormones, matrix proteins) contained within a membrane-bounded vesicle. Exocytosis can occur either by full fusion, when the vesicle collapses into the plasma membrane, or by a kiss-and-run mechanism that involves the formation of a transient contact, a pore, between a granule (for exemple of chromaffin cells) and the plasma membrane. The latter process most of the time leads to only partial secretion of the granule content. Exocytosis begins with steps that prepare vesicles for fusion with the membrane (tethering and docking) and ends when molecules are secreted from the cell. |
| Golgi to plasma membrane transport | The directed movement of substances from the Golgi to the plasma membrane in transport vesicles that move from the trans-Golgi network to the plasma membrane, where they fuse and release their contents by exocytosis. |
| protein-containing complex assembly | The aggregation, arrangement and bonding together of a set of macromolecules to form a protein-containing complex. |
| regulation of establishment or maintenance of cell polarity | Any process that modulates the frequency, rate or extent of the specification, formation or maintenance of anisotropic intracellular organization or cell growth patterns. |
| regulation of Notch signaling pathway | Any process that modulates the frequency, rate or extent of the Notch signaling pathway. |
| regulation of protein secretion | Any process that modulates the frequency, rate or extent of the controlled release of a protein from a cell. |
13 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P38163 | SRO77 | Lethal(2) giant larvae protein homolog SRO77 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | PR |
| Q12038 | SRO7 | Lethal(2) giant larvae protein homolog SRO7 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | PR |
| Q8MKF0 | LLGL1 | Lethal(2) giant larvae protein homolog 1 | Bos taurus (Bovine) | PR |
| Q6P1M3 | LLGL2 | LLGL scribble cell polarity complex component 2 | Homo sapiens (Human) | PR |
| Q9Y2K9 | STXBP5L | Syntaxin-binding protein 5-like | Homo sapiens (Human) | PR |
| Q5T5C0 | STXBP5 | Syntaxin-binding protein 5 | Homo sapiens (Human) | PR |
| Q8K400 | Stxbp5 | Syntaxin-binding protein 5 | Mus musculus (Mouse) | PR |
| Q5DQR4 | Stxbp5l | Syntaxin-binding protein 5-like | Mus musculus (Mouse) | PR |
| Q80Y17 | Llgl1 | Lethal(2) giant larvae protein homolog 1 | Mus musculus (Mouse) | PR |
| Q9WU70 | Stxbp5 | Syntaxin-binding protein 5 | Rattus norvegicus (Rat) | PR |
| Q8K4K5 | Llgl1 | Lethal(2) giant larvae protein homolog 1 | Rattus norvegicus (Rat) | PR |
| Q5SQE2 | stxbp5l | Syntaxin-binding protein 5-like | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| Q7SZE3 | llgl2 | LLGL scribble cell polarity complex component 2 | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MMKFRFRRQG | ADPQREKLKQ | ELFAFNKTVE | HGFPNQPSAL | AFDPELRIMA | IGTRSGAVKI |
| 70 | 80 | 90 | 100 | 110 | 120 |
| YGAPGVEFTG | LHRDAATVTQ | MHFLTGQGRL | LSLLDDSSLH | LWEIVHHNGC | AHLEEALSFQ |
| 130 | 140 | 150 | 160 | 170 | 180 |
| LPSRPGFDGA | SAPLSLTRVT | VVLLVAASDI | AALGTEGSSV | FFLDVTTLTL | LEGQTLAPGE |
| 190 | 200 | 210 | 220 | 230 | 240 |
| VLRSVPDDYR | CGKALGPVES | LQGHLRDPTK | ILIGYSRGLL | VIWNQASQCV | DHIFLGNQQL |
| 250 | 260 | 270 | 280 | 290 | 300 |
| ESLCWGRDSS | TVVSSHSDGS | YAVWSVDAGS | FPTLQPTVAT | TPYGPFPCKA | INKILWRNCE |
| 310 | 320 | 330 | 340 | 350 | 360 |
| SGGHFIIFSG | GMPRASYGDR | HCVSVLRAET | LVTLDFTSRI | IDFFTVHSTR | PEDEFDDPQA |
| 370 | 380 | 390 | 400 | 410 | 420 |
| LAVLLEEELV | VLDLQTPGWP | AVPAPYLAPL | HSSAITCSAH | VASVPAKLWA | RIVSAGEQQS |
| 430 | 440 | 450 | 460 | 470 | 480 |
| PQPVSSALSW | PITGGRNLAQ | EPSQRGLLLT | GHEDGTVRFW | DASGVALRPL | YKLSTAGLFQ |
| 490 | 500 | 510 | 520 | 530 | 540 |
| TDCEHADSLA | QAAEDDWPPF | RKVGCFDPYS | DDPRLGVQKV | ALCKYTAQMV | VAGTAGQVLV |
| 550 | 560 | 570 | 580 | 590 | 600 |
| LELSDVPVEQ | AVSVAIIDLL | QDREGFTWKG | HERLSPRTGP | LPWPAGFQPR | VLVQCLPPAA |
| 610 | 620 | 630 | 640 | 650 | 660 |
| VTAVTLHTEW | SLVAFGTSHG | FGLFDYQRKS | PVLARCTLHP | NDSLAMEGPL | SRVKSLKKSL |
| 670 | 680 | 690 | 700 | 710 | 720 |
| RQSFRRIRKS | RVSGKKRAAN | ASSKLQEANA | QLAEQACPHD | VEMTPVQRRI | EPRSADDSLS |
| 730 | 740 | 750 | 760 | 770 | 780 |
| GVVRCLYFAD | TFLRDGAHHG | PTMWAGTNSG | SVFAYALEVP | AAAVGGEKRP | EQAVEAVLGK |
| 790 | 800 | 810 | 820 | 830 | 840 |
| EVQLMHRAPV | VAIAVLDGRG | RPLPEPYEAS | RDLAQAPDMQ | GGHAVLIASE | EQFKVFTLPK |
| 850 | 860 | 870 | 880 | 890 | 900 |
| VSAKTKFKLT | AHEGCRVRKV | ALATFASVAC | EDYAETCLAC | LTNLGDVHVF | SVPGLRPQVH |
| 910 | 920 | 930 | 940 | 950 | 960 |
| YSCIRKEDIS | GIASCVFTRH | GQGFYLISPS | EFERFSLSAR | NITEPLCSLD | INWPRDATQA |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| SYRIRESPKL | SQANGTPSIL | LAPQSLDGSP | DPAHSMGPDT | PEPPEAALSP | MSIDSATSAD |
| 1030 | 1040 | 1050 | 1060 | ||
| TTLDTTGDVT | VEDVKDFLGS | SEESEKNLRN | LAEDEAHACA | ILIK |