Q5T1M5
PR
Gene name |
FKBP15 (KIAA0674) |
Protein name |
FK506-binding protein 15 |
Names |
FKBP-15, 133 kDa FK506-binding protein, 133 kDa FKBP, FKBP-133, WASP- and FKBP-like protein, WAFL |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:23307 |
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 Q5T1M5
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q5T1M5-F1 | Predicted | AlphaFoldDB |
902 variants for Q5T1M5
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA374549893 rs1474400816 |
2 | F>S | No |
ClinGen TOPMed |
|
|
CA374549878 rs957007520 |
3 | G>C | No |
ClinGen TOPMed |
|
|
CA198543360 rs957007520 |
3 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1255019837 CA374549860 |
4 | A>E | No |
ClinGen gnomAD |
|
|
rs1239263660 CA374549846 |
5 | G>E | No |
ClinGen gnomAD |
|
|
CA374549849 rs1364812936 |
5 | G>R | No |
ClinGen TOPMed |
|
|
CA198543357 rs781248130 |
6 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA374549815 rs1408695515 |
7 | E>K | No |
ClinGen gnomAD |
|
|
CA374549774 rs1435004402 |
9 | D>H | No |
ClinGen TOPMed |
|
|
CA374549775 rs1435004402 |
9 | D>N | No |
ClinGen TOPMed |
|
|
rs1311849301 CA374549761 |
10 | T>A | No |
ClinGen TOPMed |
|
|
CA374549756 rs1353364582 |
10 | T>I | No |
ClinGen TOPMed |
|
|
rs1394050222 CA374549754 |
11 | D>N | No |
ClinGen gnomAD |
|
|
CA5194450 rs769214308 |
13 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs750701587 CA5194446 |
18 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA5194426 rs755887841 |
22 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA374547649 rs1270755047 |
24 | L>P | No |
ClinGen gnomAD |
|
|
rs780953565 CA5194424 |
24 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA5194422 rs533354533 |
30 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs560358430 CA198538612 |
32 | A>V | No |
ClinGen Ensembl |
|
|
CA198538609 rs762876028 |
33 | G>S | No |
ClinGen Ensembl |
|
|
CA374547531 rs1434582192 |
34 | H>P | No |
ClinGen gnomAD |
|
|
rs766346838 CA5194421 |
35 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA5194420 rs758267717 |
36 | N>K | No |
ClinGen ExAC |
|
|
CA374547487 rs151187548 |
38 | F>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs151187548 CA5194419 |
38 | F>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5194418 rs764998733 |
40 | Q>* | No |
ClinGen ExAC |
|
| TCGA novel | 40 | Q>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 43 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA374547400 rs1451684570 |
44 | P>L | No |
ClinGen gnomAD |
|
|
rs762057982 CA374547375 |
46 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5194417 rs762057982 |
46 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA374547351 rs1248159601 |
48 | K>E | No |
ClinGen gnomAD |
|
| TCGA novel | 48 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1246253693 CA374547315 |
50 | G>V | No |
ClinGen TOPMed |
|
|
CA198538562 rs202182771 |
51 | Q>E | No |
ClinGen Ensembl |
|
|
CA5194413 rs143131480 |
53 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs746347565 CA5194411 |
54 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5194410 rs774827820 |
55 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs181387854 CA5194409 |
55 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs749622604 CA5194408 |
56 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA374546886 rs1169048706 |
58 | N>S | No |
ClinGen TOPMed |
|
|
CA374546877 rs1250961728 |
59 | Q>* | No |
ClinGen gnomAD |
|
|
CA5194394 rs767471703 |
59 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs759620589 CA5194393 |
60 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775021081 CA5194392 |
62 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA374546847 rs1235476182 |
62 | P>S | No |
ClinGen gnomAD |
|
|
rs1269087177 CA374546818 |
65 | A>P | No |
ClinGen gnomAD |
|
|
CA374546820 rs1269087177 |
65 | A>T | No |
ClinGen gnomAD |
|
|
CA374546790 rs1327209486 |
67 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA5194390 rs749676043 |
68 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773710640 CA5194389 |
70 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs768484598 CA5194388 |
71 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA5194386 rs779659702 |
74 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5194387 rs746623567 |
74 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA374546711 rs1322194048 |
75 | L>Q | No |
ClinGen gnomAD |
|
|
rs551093760 CA5194381 |
77 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5194380 rs777529522 |
78 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA5194379 rs368633371 |
79 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5194378 rs752830906 |
81 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 81 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA374546662 rs1587973737 |
82 | A>S | No |
ClinGen Ensembl |
|
|
CA5194376 rs759549349 |
82 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751624766 CA5194375 |
84 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs201633439 CA5194374 |
84 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA5194373 rs763543063 |
85 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs145552990 CA5194356 |
87 | N>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 90 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763591385 CA5194355 |
90 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA198533032 rs968808514 |
92 | K>N | No |
ClinGen Ensembl |
|
|
CA374546509 rs1364823548 |
93 | Q>R | No |
ClinGen gnomAD |
|
|
CA5194352 rs762101834 |
95 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs373253996 CA5194351 |
97 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA374546435 rs1257479672 |
98 | A>S | No |
ClinGen TOPMed |
|
|
rs1428937060 CA374546354 |
103 | N>T | No |
ClinGen gnomAD |
|
|
rs1288891437 CA374546313 |
105 | T>R | No |
ClinGen gnomAD |
|
|
rs1133618 CA5194350 |
106 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM4163229 rs1133618 VAR_034851 CA5194349 |
106 | A>T | thyroid [Cosmic] | No |
ClinGen cosmic curated UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA5194348 rs773900562 |
106 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1435162403 CA374546258 |
108 | E>G | No |
ClinGen gnomAD |
|
|
rs369443598 CA198530929 |
109 | Y>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed gnomAD |
|
CA374544761 rs762454724 |
110 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA5194324 rs762454724 |
110 | R>M | No |
ClinGen ExAC gnomAD |
|
|
rs1410841900 CA374544747 |
111 | I>T | No |
ClinGen gnomAD |
|
|
CA5194323 rs772773891 |
112 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1335864405 CA374544694 |
114 | Y>S | No |
ClinGen gnomAD |
|
|
rs1394144908 CA374544681 |
115 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA5194322 rs377055926 |
116 | S>R | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
CA198530913 rs76264003 CA374544616 |
118 | Q>H | No |
ClinGen gnomAD |
|
|
rs1457809512 CA374544607 |
119 | Q>* | No |
ClinGen gnomAD |
|
|
CA374544597 rs1390861156 |
119 | Q>H | No |
ClinGen gnomAD |
|
|
CA374544584 rs1157045818 |
120 | P>Q | No |
ClinGen gnomAD |
|
|
CA5194321 rs748094312 |
122 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA5194319 rs768598938 |
124 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs746747011 CA5194318 |
125 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1255009291 CA374544473 |
128 | V>M | No |
ClinGen gnomAD |
|
|
CA374544397 rs936617068 CA198530904 |
131 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA374544411 rs1224973474 |
131 | E>K | No |
ClinGen TOPMed |
|
|
CA374544389 rs1356990965 |
132 | L>P | No |
ClinGen TOPMed |
|
|
CA374544297 rs1331712094 |
134 | V>L | No |
ClinGen gnomAD |
|
|
COSM1104202 rs775424290 CA5194300 |
135 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA5194301 rs746809953 |
135 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5194299 rs370425199 |
137 | N>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368181190 CA5194298 |
138 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA374544217 rs1167007916 |
139 | Y>C | No |
ClinGen gnomAD |
|
|
rs1410381661 CA374544183 |
141 | T>I | No |
ClinGen TOPMed |
|
|
rs1490163786 CA374544163 |
143 | Y>C | No |
ClinGen gnomAD |
|
|
rs374222379 CA198530692 |
143 | Y>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM455172 rs374222379 CA5194297 |
143 | Y>H | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs370840067 CA5194296 |
146 | Q>H | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1214153734 CA374544089 |
148 | Q>K | No |
ClinGen gnomAD |
|
|
CA374544078 rs1345993823 |
148 | Q>P | No |
ClinGen gnomAD |
|
|
CA374544039 rs778256296 |
150 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs778256296 CA5194294 |
150 | W>C | No |
ClinGen ExAC gnomAD |
|
|
CA5194293 rs756607730 |
152 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1049476653 CA198530684 |
152 | I>V | No |
ClinGen gnomAD |
|
|
CA5194291 rs781512587 |
153 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs560659600 CA5194292 |
153 | M>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs112644670 CA198530673 |
154 | F>C | No |
ClinGen Ensembl |
|
|
rs1414613048 CA374543956 |
155 | E>D | No |
ClinGen gnomAD |
|
|
CA5194289 rs750118103 |
156 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA198530663 rs922121983 |
161 | V>M | No |
ClinGen gnomAD |
|
|
CA198530658 rs867042919 |
162 | E>* | No |
ClinGen Ensembl |
|
|
CA374543849 rs753225138 |
162 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA5194286 rs753225138 |
162 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA374543859 rs867042919 |
162 | E>K | No |
ClinGen Ensembl |
|
|
CA5194285 rs764197136 |
163 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA5194284 rs760679255 |
164 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5194282 rs771963703 |
166 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA5194277 rs199677910 |
167 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA374543613 rs1160761047 |
167 | V>L | No |
ClinGen gnomAD |
|
|
CA374543590 rs770333133 |
169 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770333133 CA5194276 |
169 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1182220792 CA374543577 |
170 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1236139464 CA374543552 |
172 | C>G | No |
ClinGen gnomAD |
|
|
CA374543524 rs1358123288 |
174 | S>G | No |
ClinGen TOPMed |
|
|
rs1029893833 CA198529538 |
174 | S>N | No |
ClinGen Ensembl |
|
|
rs1239402529 CA374543510 |
175 | T>A | No |
ClinGen gnomAD |
|
|
rs755389015 CA5194273 |
176 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA5194272 rs751808474 |
177 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA5194270 rs756859815 |
179 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA374543406 rs1257355965 |
182 | L>F | No |
ClinGen gnomAD |
|
|
rs1365489076 CA374543323 |
187 | I>M | No |
ClinGen gnomAD |
|
|
rs142639501 CA5194269 |
187 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA198529519 rs776185653 |
187 | I>V | No |
ClinGen Ensembl |
|
|
CA374543298 rs1311082449 |
190 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1455248116 CA374543282 |
191 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1311748299 CA374543249 |
192 | P>L | No |
ClinGen TOPMed |
|
|
rs1208735901 CA374543229 |
194 | V>L | No |
ClinGen TOPMed |
|
| TCGA novel | 195 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs752713915 CA5194266 |
195 | E>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 198 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1444170766 CA374543131 |
199 | S>C | No |
ClinGen gnomAD |
|
| TCGA novel | 199 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5194263 rs774011808 |
201 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1484964000 CA374543073 |
203 | A>G | No |
ClinGen gnomAD |
|
|
CA5194262 rs771241869 |
203 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA374543028 rs564050310 |
206 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs564050310 CA5194260 |
206 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200552704 CA5194259 |
207 | W>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1289974023 CA374542976 |
208 | L>P | No |
ClinGen gnomAD |
|
|
CA374542947 rs1173737084 |
210 | Q>R | No |
ClinGen TOPMed |
|
|
rs1245773960 CA374542926 |
211 | N>K | No |
ClinGen gnomAD |
|
|
rs748174595 CA5194258 |
212 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777133203 CA5194257 |
214 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA198529482 rs768974299 |
216 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5194256 rs768974299 |
216 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA198529142 rs550666306 |
217 | V>F | No |
ClinGen Ensembl |
|
| TCGA novel | 218 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs369177721 CA5194240 |
219 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1410384462 CA374542784 |
221 | T>S | No |
ClinGen gnomAD |
|
|
rs377588392 CA5194238 |
223 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA374542758 rs1372781870 |
225 | D>G | No |
ClinGen gnomAD |
|
|
rs1460607370 CA374542760 |
225 | D>N | No |
ClinGen gnomAD |
|
|
rs374097177 CA5194237 |
228 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA374542733 COSM3847410 rs772357114 |
229 | R>C | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs369857780 CA5194235 |
229 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5194236 rs772357114 |
229 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5194230 rs754981943 |
234 | S>* | No |
ClinGen ExAC gnomAD |
|
|
CA374542681 rs372832505 |
237 | V>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5194229 rs372832505 |
237 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5194228 rs766287534 |
238 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA5194216 rs371909349 |
240 | G>D | No |
ClinGen ESP ExAC gnomAD |
|
|
CA374542643 rs1257333950 |
241 | W>* | No |
ClinGen gnomAD |
|
|
rs1461915809 CA374542640 |
241 | W>* | No |
ClinGen TOPMed |
|
|
CA5194215 CA374542608 rs200426044 |
245 | M>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA374542611 rs1183201621 |
245 | M>T | No |
ClinGen gnomAD |
|
|
CA374542596 rs1261907595 |
248 | M>V | No |
ClinGen gnomAD |
|
|
rs774853147 CA5194214 |
250 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1258934545 CA374542555 |
253 | K>T | No |
ClinGen gnomAD |
|
|
CA5194212 rs374443474 COSM1104196 |
254 | R>* | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs747772216 CA5194211 |
254 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1587966833 CA374542536 |
257 | I>L | No |
ClinGen Ensembl |
|
|
rs746467241 CA5194207 |
259 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1327222682 CA374542512 COSM1195994 |
261 | A>T | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs779858527 CA5194206 |
264 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs754609515 CA198528171 |
266 | S>L | No |
ClinGen Ensembl |
|
| TCGA novel | 267 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1157294334 CA374542465 |
268 | G>E | No |
ClinGen gnomAD |
|
|
CA374542467 rs1387756177 |
268 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA5194205 rs758323926 |
270 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1234449257 CA858862230 |
271 | G>* | No |
ClinGen TOPMed |
|
|
rs1165879350 CA374542446 |
271 | G>A | No |
ClinGen gnomAD |
|
|
CA374542447 rs1165879350 |
271 | G>D | No |
ClinGen gnomAD |
|
|
rs892193085 CA198528149 |
272 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
CA374542425 rs1442382013 |
274 | Q>* | No |
ClinGen gnomAD |
|
|
CA5194204 rs201292469 |
276 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs778660881 CA5194203 |
278 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1465900892 CA374542381 |
278 | S>P | No |
ClinGen gnomAD |
|
|
rs1013119181 CA198528093 |
281 | V>L | No |
ClinGen gnomAD |
|
|
CA374542356 rs1013119181 |
281 | V>M | No |
ClinGen gnomAD |
|
|
CA374542347 rs1564174784 |
282 | F>L | No |
ClinGen Ensembl |
|
|
rs1289545082 CA374542342 |
282 | F>Y | No |
ClinGen gnomAD |
|
|
rs764332192 CA5194200 |
283 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1436123069 CA374542295 |
286 | V>I | No |
ClinGen gnomAD |
|
|
CA5194197 rs760108764 |
288 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760108764 CA5194196 |
288 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752757761 CA5194198 |
288 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 289 | V>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1430147688 CA374541580 |
293 | R>K | No |
ClinGen TOPMed |
|
|
rs149222255 CA5194181 |
293 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA374541574 rs1335019612 |
294 | D>Y | No |
ClinGen TOPMed |
|
|
CA374541563 rs1166801883 |
295 | S>C | No |
ClinGen gnomAD |
|
|
CA5194179 rs752777873 |
297 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
CA5194178 rs767672880 |
299 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA374541543 rs1431318736 |
299 | G>S | No |
ClinGen gnomAD |
|
|
rs374760090 CA5194176 |
302 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs763228107 CA5194174 |
303 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA5194175 rs114054992 |
303 | S>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1002138276 CA198526261 |
305 | R>C | No |
ClinGen gnomAD |
|
|
CA5194173 rs62636616 |
305 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5194171 COSM201761 rs760349713 |
306 | D>N | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs775023697 CA5194170 |
308 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1487007379 CA374541476 |
310 | P>A | No |
ClinGen gnomAD |
|
|
rs1289358201 CA374541468 |
311 | S>F | No |
ClinGen gnomAD |
|
|
CA374541422 rs1414717371 |
318 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA5194166 rs774288357 |
325 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1564172017 CA374541351 |
326 | S>L | No |
ClinGen Ensembl |
|
|
rs770835089 CA5194165 |
327 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA374541348 rs1216510438 |
327 | P>T | No |
ClinGen gnomAD |
|
|
rs749104199 CA5194164 |
328 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5194163 rs777612372 |
328 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 328 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs756341357 CA5194162 |
331 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5194161 rs574831502 |
332 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA5194160 rs781513743 |
333 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA374541259 rs1321381809 |
334 | K>T | No |
ClinGen gnomAD |
|
|
CA5194158 rs751618881 |
336 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs755122421 CA5194159 |
336 | G>W | No |
ClinGen ExAC gnomAD |
|
|
rs1460120357 CA374541162 |
337 | E>G | No |
ClinGen TOPMed |
|
|
CA374541167 rs1242729099 |
337 | E>Q | No |
ClinGen TOPMed |
|
|
rs1283996763 CA374541148 |
338 | P>S | No |
ClinGen gnomAD |
|
|
CA374541136 rs1361113214 |
339 | A>P | No |
ClinGen gnomAD |
|
|
rs375529706 CA5194145 |
341 | R>C | No |
ClinGen ESP ExAC gnomAD |
|
|
CA5194144 rs747893207 |
341 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA374541108 rs747893207 |
341 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA374541067 rs1428481589 |
345 | N>D | No |
ClinGen gnomAD |
|
|
CA374541002 rs1323963894 |
349 | E>D | No |
ClinGen gnomAD |
|
|
CA5194142 rs781568788 |
350 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA5194141 rs755243191 |
350 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs747139318 CA5194140 |
353 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs998657875 CA198523705 |
356 | S>R | No |
ClinGen Ensembl |
|
|
CA5194124 rs776549920 |
356 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5194122 rs375150301 |
358 | D>N | Variant assessed as Somatic; 4.76e-05 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA5194120 rs781171508 |
360 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA198523678 rs772701390 |
362 | A>V | No |
ClinGen gnomAD |
|
|
rs372070177 CA198523671 |
363 | K>R | No |
ClinGen ESP TOPMed |
|
|
rs772483115 CA198523665 |
366 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
CA5194118 rs779483326 |
367 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs745882177 CA5194119 |
367 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA5194116 rs199602544 |
368 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5194115 rs778090579 |
369 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA374539660 rs1232367958 |
371 | M>V | No |
ClinGen TOPMed |
|
|
CA5194114 rs754666771 |
372 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA5194113 rs751234192 |
373 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs1205091403 CA374539524 |
380 | P>S | No |
ClinGen gnomAD |
|
|
rs1262489244 CA374539492 |
382 | Q>R | No |
ClinGen gnomAD |
|
|
CA374539481 rs940154281 |
383 | L>V | No |
ClinGen gnomAD |
|
|
rs1318463331 CA374539466 |
384 | D>G | No |
ClinGen gnomAD |
|
|
CA198523602 rs908756785 |
384 | D>N | No |
ClinGen TOPMed |
|
|
rs765887886 CA5194110 |
386 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs981654001 CA198523594 |
388 | S>* | No |
ClinGen TOPMed gnomAD |
|
|
rs749896055 CA5194108 |
390 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA374539361 rs376172887 |
391 | E>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370128921 CA198523589 |
391 | E>A | No |
ClinGen ESP TOPMed |
|
|
rs376172887 CA5194107 |
391 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1384411641 CA374539199 |
393 | V>A | No |
ClinGen TOPMed |
|
|
rs1490438308 CA374539208 |
393 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA5194085 rs775147154 |
395 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1587961065 CA374539177 |
395 | T>P | No |
ClinGen Ensembl |
|
|
CA5194082 rs774531533 |
398 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs535624710 CA5194083 |
398 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA5194081 rs771031978 |
399 | G>C | No |
ClinGen ExAC gnomAD |
|
|
rs1325373275 CA374539133 |
400 | G>R | No |
ClinGen TOPMed |
|
|
COSM752004 CA374539098 rs1294001865 |
402 | P>L | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1399969321 CA374539082 |
404 | V>L | No |
ClinGen gnomAD |
|
|
CA198522232 rs867091098 |
405 | T>I | No |
ClinGen Ensembl |
|
|
CA5194080 rs749306160 |
405 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs773712216 CA5194079 |
406 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5194076 rs376379491 |
408 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA374539025 rs1476135813 |
409 | Q>R | No |
ClinGen gnomAD |
|
|
CA5194075 rs758106688 |
410 | P>H | No |
ClinGen ExAC gnomAD |
|
|
rs1192801411 CA374538989 |
412 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
VAR_034852 CA5194073 rs10435864 |
413 | H>Q | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs369298588 CA5194072 |
414 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1196629656 CA374538923 |
416 | H>Y | No |
ClinGen gnomAD |
|
|
rs979162947 CA198522170 |
418 | A>V | No |
ClinGen Ensembl |
|
|
CA5194068 rs372714242 |
420 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA374538860 rs1456631623 |
420 | P>S | No |
ClinGen gnomAD |
|
|
CA5194067 rs752586161 |
425 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA374538735 rs1285580998 |
426 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA5194042 rs200525617 |
427 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5194043 rs200525617 |
427 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA374538552 rs1245074780 |
431 | V>D | No |
ClinGen gnomAD |
|
|
CA5194040 rs765260782 |
431 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA5194039 rs10465129 VAR_034853 |
434 | L>F | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs377178302 CA5194037 |
436 | A>E | No |
ClinGen ESP ExAC gnomAD |
|
|
CA374538452 rs377178302 |
436 | A>G | No |
ClinGen ESP ExAC gnomAD |
|
|
CA5194038 rs777015277 |
436 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA374538439 rs1351008488 |
437 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs761014531 CA5194036 |
438 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs748917722 CA5194033 |
439 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA5194035 rs73655816 |
439 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5194034 rs73655816 |
439 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA374538396 rs1334142632 |
440 | A>T | No |
ClinGen gnomAD |
|
|
CA374538351 rs1564166115 |
442 | M>I | No |
ClinGen Ensembl |
|
|
CA5194032 rs777528782 |
444 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs374843923 CA198521781 |
446 | S>C | No |
ClinGen Ensembl |
|
|
rs1381423381 CA374538283 |
446 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
CA374538231 rs1379478319 |
448 | D>E | No |
ClinGen gnomAD |
|
|
rs45559933 CA5194028 |
448 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs45559933 CA5194029 |
448 | D>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs751404100 CA374538216 |
449 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751404100 CA5194027 |
449 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5194026 rs779793622 |
450 | H>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA374538209 rs779793622 |
450 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1387104546 CA374538174 |
451 | S>L | No |
ClinGen gnomAD |
|
|
rs758145997 CA5194025 |
452 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA5194024 rs750661846 |
453 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs113219248 CA5194023 |
458 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA374538030 rs1564166000 |
459 | S>Y | No |
ClinGen Ensembl |
|
|
CA374536959 rs1277425500 |
462 | P>S | No |
ClinGen TOPMed |
|
|
CA374536942 rs1291951275 |
463 | Y>C | No |
ClinGen gnomAD |
|
|
CA198520866 rs868855426 |
465 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1457600285 CA374536918 |
465 | G>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA374536905 rs1355131232 |
466 | M>T | No |
ClinGen gnomAD |
|
|
rs548851321 CA5194000 |
467 | Q>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1021283286 CA374536871 |
468 | A>G | No |
ClinGen TOPMed |
|
|
CA198520865 rs1021283286 |
468 | A>V | No |
ClinGen TOPMed |
|
|
CA198520859 rs1056655020 |
470 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1231224411 CA374536843 |
470 | A>V | No |
ClinGen TOPMed |
|
|
CA374536818 rs1177577568 |
472 | P>R | No |
ClinGen gnomAD |
|
|
rs939530074 CA198520855 |
472 | P>T | No |
ClinGen Ensembl |
|
|
rs1481596604 CA374536805 |
473 | Q>L | No |
ClinGen gnomAD |
|
|
CA5193998 rs774762546 |
475 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA5193996 rs748316719 |
477 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1587959500 CA374536751 |
478 | T>P | No |
ClinGen Ensembl |
|
|
CA374536723 rs1424656628 |
480 | Q>* | No |
ClinGen TOPMed |
|
|
CA198520809 rs374357809 |
482 | Q>R | No |
ClinGen TOPMed |
|
|
CA374536700 rs1310151981 |
483 | P>L | No |
ClinGen gnomAD |
|
|
rs1225295160 CA374536704 |
483 | P>T | No |
ClinGen gnomAD |
|
|
rs1587959461 CA374536694 |
484 | V>G | No |
ClinGen Ensembl |
|
|
CA5193994 rs768173501 |
484 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs373020760 CA5193993 |
485 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5193992 rs369035153 |
485 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5193991 rs369035153 |
485 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA374536693 rs373020760 |
485 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1444722820 CA374536691 |
486 | P>S | No |
ClinGen gnomAD |
|
|
rs1399679249 CA374536673 |
488 | Y>C | No |
ClinGen gnomAD |
|
|
CA374536670 rs1337922268 |
489 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA198520805 rs866017215 |
489 | P>Q | No |
ClinGen gnomAD |
|
|
CA374536668 rs1337922268 |
489 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1376222597 CA374536665 |
490 | A>T | No |
ClinGen gnomAD |
|
|
rs201838091 CA5193989 |
491 | P>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs372900474 CA5193988 |
491 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5193986 rs777810004 |
493 | S>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 497 | H>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA198520776 rs866525366 |
497 | H>N | No |
ClinGen Ensembl |
|
|
rs1243252279 CA374536621 |
497 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA198520769 rs866551823 |
500 | G>* | No |
ClinGen Ensembl |
|
|
rs1282596809 CA374536581 |
501 | S>* | No |
ClinGen Ensembl |
|
|
rs563841333 CA5193972 |
502 | G>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA374536575 rs563841333 |
502 | G>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5193970 rs748982348 |
506 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA5193968 rs78562042 |
508 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA374536537 rs78562042 |
508 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs75895733 CA198520000 |
509 | M>I | No |
ClinGen Ensembl |
|
|
CA5193966 rs781386903 |
509 | M>L | No |
ClinGen ExAC |
|
|
rs1365851860 CA374536510 |
512 | A>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 512 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755065375 CA5193965 |
512 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs543431557 CA374536506 |
513 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs543431557 CA5193963 |
513 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs543431557 CA5193962 |
513 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5193964 rs752125897 |
513 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368493451 CA5193960 |
515 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375902693 CA5193959 |
520 | R>* | No |
ClinGen ESP ExAC gnomAD |
|
|
CA5193958 rs752245222 |
520 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA374536449 rs1383044869 |
521 | M>I | No |
ClinGen TOPMed |
|
|
rs1211881110 CA374536442 |
522 | A>S | No |
ClinGen gnomAD |
|
| TCGA novel | 522 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA374536406 rs570275470 |
525 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA198519941 rs570275470 |
525 | K>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1383978193 CA374536389 |
527 | A>T | No |
ClinGen TOPMed |
|
|
rs74772846 CA198519940 |
528 | D>G | No |
ClinGen gnomAD |
|
|
rs1264941451 CA374536379 |
528 | D>N | No |
ClinGen gnomAD |
|
|
CA374536361 rs1276665607 |
529 | K>R | No |
ClinGen gnomAD |
|
|
CA5193957 rs767046571 |
530 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1346568756 CA374536339 |
531 | D>N | No |
ClinGen gnomAD |
|
| TCGA novel | 533 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5193956 rs758925223 |
534 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1336153046 CA374536300 |
534 | M>V | No |
ClinGen TOPMed |
|
|
rs1168046238 CA374536276 |
536 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA198519746 rs961857898 |
537 | V>L | No |
ClinGen TOPMed |
|
|
CA374536220 rs1564162532 |
538 | E>K | No |
ClinGen Ensembl |
|
|
CA374536186 rs1470257291 |
540 | L>F | No |
ClinGen gnomAD |
|
|
CA5193947 rs555652034 |
541 | Q>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1477146143 CA374536137 |
544 | S>G | No |
ClinGen gnomAD |
|
|
CA374536140 rs1477146143 |
544 | S>R | No |
ClinGen gnomAD |
|
|
rs371594370 CA5193946 |
544 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5193945 rs758815871 |
545 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1459117204 CA374536090 |
548 | S>C | No |
ClinGen gnomAD |
|
|
CA198519710 rs753596738 |
549 | M>T | No |
ClinGen Ensembl |
|
|
CA198519713 rs878911527 |
549 | M>V | No |
ClinGen gnomAD |
|
|
CA374536068 rs1443559822 |
551 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1443559822 CA374536069 |
551 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1346554329 CA374536060 |
552 | P>L | No |
ClinGen TOPMed |
|
|
rs765742723 CA5193944 |
553 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779219290 CA5193943 |
554 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA374536041 rs1279717445 COSM1459397 |
555 | S>P | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA374536027 rs1241911499 |
557 | T>K | No |
ClinGen gnomAD |
|
|
CA374536020 rs1307912075 |
558 | M>R | No |
ClinGen gnomAD |
|
|
rs1307912075 CA374536021 |
558 | M>T | No |
ClinGen gnomAD |
|
|
rs757578109 CA5193942 |
558 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs944199667 CA198519703 |
559 | E>A | No |
ClinGen Ensembl |
|
|
rs752369685 CA5193941 |
559 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs767103824 CA5193940 |
564 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA374535958 rs1331927356 |
566 | N>S | No |
ClinGen gnomAD |
|
|
CA374535948 rs536060397 |
567 | I>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA374535947 rs1385443234 |
568 | Q>* | No |
ClinGen gnomAD |
|
|
rs751029239 CA5193938 |
569 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM275176 CA5193937 rs532818858 |
569 | R>Q | Variant assessed as Somatic; 4.951e-05 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 573 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1287151299 CA374535888 |
575 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1287151299 CA374535887 |
575 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA374535865 rs1318610123 |
578 | K>E | No |
ClinGen gnomAD |
|
|
rs370833180 CA5193920 |
578 | K>M | No |
ClinGen ESP ExAC gnomAD |
|
|
rs370833180 CA374535862 |
578 | K>R | No |
ClinGen ESP ExAC gnomAD |
|
|
CA5193919 rs751118437 |
582 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1339617718 CA374535833 |
582 | L>P | No |
ClinGen gnomAD |
|
|
rs765834768 CA5193918 |
586 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749402432 CA5193916 |
587 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs757872024 CA5193917 |
587 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA198519493 rs1040517961 |
588 | I>M | No |
ClinGen Ensembl |
|
|
CA374535778 rs1405286518 |
590 | E>G | No |
ClinGen gnomAD |
|
|
CA374535775 rs1478833916 |
591 | Q>* | No |
ClinGen Ensembl |
|
|
CA5193915 rs765198710 |
594 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1481586401 CA374535721 |
598 | L>I | No |
ClinGen TOPMed |
|
|
rs867587335 CA198519485 |
599 | I>T | No |
ClinGen gnomAD |
|
| TCGA novel | 599 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761765331 CA5193914 COSM302240 |
601 | R>* | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA5193913 rs199849054 COSM1104192 |
601 | R>Q | Variant assessed as Somatic; 4.655e-05 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA374535687 rs1244475486 |
603 | Q>R | No |
ClinGen gnomAD |
|
|
CA374535658 rs1256362862 |
605 | Y>C | No |
ClinGen gnomAD |
|
|
rs1212022978 CA374535631 |
609 | S>G | No |
ClinGen gnomAD |
|
|
rs1587957341 CA374535621 |
610 | N>T | No |
ClinGen Ensembl |
|
|
CA5193891 rs759682758 |
613 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774404513 CA5193890 |
614 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1233855023 CA374535580 |
615 | K>N | No |
ClinGen gnomAD |
|
|
rs1377668941 CA374535577 |
616 | R>K | No |
ClinGen gnomAD |
|
|
CA5193889 rs771479841 |
616 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA198518984 rs940195212 |
617 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
CA374535571 rs1445211639 |
617 | N>Y | No |
ClinGen gnomAD |
|
|
CA374535565 rs1319485281 |
618 | N>D | No |
ClinGen gnomAD |
|
|
CA5193888 rs763479197 |
618 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5193887 rs773717864 |
622 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs79847489 CA198518982 |
622 | T>P | No |
ClinGen Ensembl |
|
|
CA5193886 rs770063744 |
624 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA374535482 rs1275779980 |
629 | A>V | No |
ClinGen gnomAD |
|
|
CA198518973 rs887330931 |
630 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
CA374535466 rs1176311858 |
631 | V>I | No |
ClinGen gnomAD |
|
|
rs749927173 CA5193883 |
632 | L>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA374535447 rs1292270714 |
633 | H>P | No |
ClinGen TOPMed |
|
|
CA374535449 rs1224188090 |
633 | H>Y | No |
ClinGen TOPMed |
|
|
rs756789847 CA5193880 |
637 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs756789847 CA5193881 |
637 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1210426213 CA374535409 |
638 | K>M | No |
ClinGen gnomAD |
|
|
CA374535374 rs1488729566 |
641 | V>G | No |
ClinGen gnomAD |
|
|
rs373476772 CA5193868 |
643 | E>G | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
CA198516560 rs1028211483 |
646 | A>T | No |
ClinGen Ensembl |
|
|
CA198516559 rs993676365 |
647 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA5193865 rs777030929 |
650 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1236979329 CA374535307 |
652 | V>D | No |
ClinGen TOPMed |
|
|
rs1236979329 CA374535305 |
652 | V>G | No |
ClinGen TOPMed |
|
|
CA198516545 rs1021336265 |
652 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA374535300 rs1476959808 |
653 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1476959808 CA374535301 |
653 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA374535298 rs1208580860 |
654 | H>N | No |
ClinGen TOPMed |
|
|
rs905230065 CA198516529 |
654 | H>R | No |
ClinGen TOPMed |
|
|
CA374535291 rs1295891874 |
655 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
CA5193862 rs778660528 |
655 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA374535285 rs1164565588 |
656 | Q>* | No |
ClinGen gnomAD |
|
|
CA198516513 rs1031232801 |
659 | M>V | No |
ClinGen TOPMed |
|
|
rs752487229 CA5193857 |
662 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA198516497 rs946814941 |
663 | Q>H | No |
ClinGen TOPMed |
|
|
CA374535225 rs1421209660 |
664 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA5193856 rs780936963 |
665 | K>E | No |
ClinGen ExAC gnomAD |
|
| rs774060142 | 665 | K>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 666 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA198516458 rs915347103 |
668 | E>K | No |
ClinGen Ensembl |
|
|
CA5193851 rs766517438 |
670 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1273051371 CA374535144 |
676 | S>T | No |
ClinGen gnomAD |
|
|
CA374535126 rs1443329474 |
679 | E>Q | No |
ClinGen TOPMed |
|
|
CA374535109 rs1304658517 |
681 | D>G | No |
ClinGen TOPMed |
|
|
rs750502986 CA5193849 |
682 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs200512984 CA5193847 |
685 | G>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA374535083 rs200512984 |
685 | G>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs764577153 CA198516412 |
688 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5193845 rs764577153 |
688 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA198516410 rs757852701 |
689 | K>E | No |
ClinGen TOPMed |
|
|
CA5193843 rs774151809 |
691 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1378475478 CA374535041 |
692 | A>E | No |
ClinGen gnomAD |
|
|
CA374535018 rs1452614033 |
696 | E>K | No |
ClinGen gnomAD |
|
|
CA5193827 rs75723379 |
697 | L>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs75723379 CA5193828 |
697 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA374534990 rs1220756832 |
698 | Q>R | No |
ClinGen TOPMed |
|
|
rs796461951 CA198515405 |
699 | E>K | No |
ClinGen Ensembl |
|
|
CA5193826 rs761188783 |
700 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1443291104 CA374534971 |
701 | S>Y | No |
ClinGen gnomAD |
|
|
rs1281178907 CA374534947 |
704 | A>V | No |
ClinGen gnomAD |
|
|
CA5193825 rs775984381 |
705 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs932646514 CA198515394 |
707 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs142775124 CA5193824 |
709 | K>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 710 | S>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1241745542 CA374534881 |
713 | Q>H | No |
ClinGen gnomAD |
|
|
rs368368096 CA5193823 |
713 | Q>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375357374 CA5193821 |
715 | R>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
CA198515386 rs961188094 |
715 | R>W | No |
ClinGen gnomAD |
|
|
CA374534859 rs1332024542 |
717 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA5193818 rs768564377 |
719 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1159499873 CA374534839 |
720 | L>F | No |
ClinGen gnomAD |
|
| TCGA novel | 722 | V>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 724 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1564155551 CA374534798 |
726 | E>D | No |
ClinGen Ensembl |
|
|
rs971268848 CA198515382 |
726 | E>K | No |
ClinGen Ensembl |
|
|
rs779793605 CA5193815 |
728 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs1473443234 CA374534787 |
728 | E>A | No |
ClinGen gnomAD |
|
|
CA198515375 rs374806948 |
733 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374806948 CA5193814 |
733 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs746122121 CA5193813 |
733 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA374534700 rs1485126536 |
741 | K>T | No |
ClinGen TOPMed gnomAD |
|
|
CA374550344 rs1195323453 |
742 | N>I | No |
ClinGen gnomAD |
|
| TCGA novel | 743 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761367003 CA5193802 |
743 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA374550196 rs1271148765 |
750 | S>T | No |
ClinGen gnomAD |
|
|
CA5193800 rs768619664 |
753 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA5193799 rs376721902 |
754 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA374550084 rs1216550555 |
754 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs373758414 CA5193797 |
758 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA374550001 rs1437225715 |
758 | E>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1469437743 CA374549989 |
759 | E>Q | No |
ClinGen TOPMed |
|
|
CA374549925 rs1401477132 |
761 | I>T | No |
ClinGen gnomAD |
|
|
rs1426345142 CA374549869 |
763 | E>G | No |
ClinGen gnomAD |
|
|
rs1587952433 CA374549877 |
763 | E>K | No |
ClinGen Ensembl |
|
|
rs1418288662 CA374549833 |
765 | R>C | No |
ClinGen gnomAD |
|
|
CA5193796 rs745583940 |
765 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1564153986 CA374549617 |
773 | D>G | No |
ClinGen Ensembl |
|
|
rs369828107 CA198548304 |
774 | K>R | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs771046698 CA5193794 |
775 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1017089139 CA198548299 |
776 | R>* | No |
ClinGen TOPMed |
|
|
rs1017089139 CA198548302 |
776 | R>G | No |
ClinGen TOPMed |
|
|
rs554615016 CA5193793 |
776 | R>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 779 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5193791 rs200063335 |
780 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs753282209 CA5193790 |
781 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA374549490 rs1344533678 |
781 | K>N | No |
ClinGen TOPMed |
|
|
rs781482365 CA5193789 |
782 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA5193788 rs199542319 |
783 | R>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs751853496 CA5193787 COSM3432784 |
783 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs951575928 CA198548264 |
787 | D>N | No |
ClinGen Ensembl |
|
|
rs764987314 CA5193786 |
787 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA5193785 rs371204130 |
789 | A>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1440777519 CA374549357 |
789 | A>T | No |
ClinGen gnomAD |
|
|
CA374549348 rs371204130 |
789 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA374549320 rs1249545885 |
790 | A>V | No |
ClinGen TOPMed |
|
|
CA374549252 rs1460748969 |
793 | Q>H | No |
ClinGen gnomAD |
|
|
rs780312351 CA374549070 |
796 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1293388239 CA374549056 |
797 | V>I | No |
ClinGen TOPMed |
|
|
CA5193766 rs187714009 |
798 | Q>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA198547876 rs996084809 |
801 | L>P | No |
ClinGen Ensembl |
|
|
rs755689212 CA5193763 |
802 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA5193764 rs763668682 |
802 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs752135771 CA5193762 |
803 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs767542264 CA5193761 |
805 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368175201 CA5193758 |
811 | H>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5193759 rs371648872 |
811 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs759361494 CA5193760 |
811 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1237511860 CA374548812 |
815 | S>F | No |
ClinGen gnomAD |
|
|
rs375493635 CA5193755 |
816 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs768740675 CA5193752 |
819 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs202242406 CA5193753 |
819 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1257506102 CA374548668 |
826 | E>G | No |
ClinGen gnomAD |
|
|
rs200419662 CA5193750 |
827 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs200419662 CA5193749 |
827 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA198547778 rs368555848 |
829 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed gnomAD |
|
rs1047546366 CA198547762 |
830 | Q>* | No |
ClinGen Ensembl |
|
|
rs777460182 CA5193747 |
831 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs755744330 CA5193746 |
831 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs766970582 CA5193744 |
832 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA5193745 rs752293633 |
832 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA374548548 rs1317779378 |
835 | Q>H | No |
ClinGen TOPMed |
|
|
rs754464444 CA5193743 |
838 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA374548512 rs1263146138 |
839 | V>A | No |
ClinGen TOPMed |
|
|
CA5193742 rs376220172 |
839 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA198547712 rs546154262 |
843 | E>Q | No |
ClinGen Ensembl |
|
|
rs766356416 CA5193741 |
844 | K>M | No |
ClinGen ExAC gnomAD |
|
|
rs367726295 CA5193716 |
845 | C>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1305075104 CA374548458 |
845 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1438579858 CA374548453 |
846 | L>V | No |
ClinGen gnomAD |
|
|
CA5193715 rs1128116 VAR_061543 |
847 | A>S | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA198546803 rs386737766 |
847 | A>S | No |
ClinGen Ensembl |
|
|
rs1128116 CA374548447 |
847 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA198546799 rs377220809 |
848 | L>F | No |
ClinGen ESP TOPMed gnomAD |
|
| TCGA novel | 852 | I>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs750342391 CA5193713 |
853 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1195621104 CA374548386 |
856 | T>I | No |
ClinGen gnomAD |
|
|
rs1453094849 CA374548379 |
857 | K>N | No |
ClinGen gnomAD |
|
|
rs761608841 CA5193711 |
858 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA374548373 rs1192702942 |
858 | Q>H | No |
ClinGen Ensembl |
|
|
rs1025366290 CA198546759 |
858 | Q>L | No |
ClinGen TOPMed |
|
| TCGA novel | 859 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs967721081 CA374548363 |
860 | E>* | No |
ClinGen gnomAD |
|
|
rs967721081 CA198546752 |
860 | E>Q | No |
ClinGen gnomAD |
|
|
CA198546751 rs994086845 |
862 | H>P | No |
ClinGen TOPMed |
|
|
CA5193710 rs754011108 |
863 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA374548339 rs754011108 |
863 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA198546744 rs1021987318 |
863 | I>V | No |
ClinGen Ensembl |
|
|
rs796764788 CA198546742 |
864 | K>R | No |
ClinGen gnomAD |
|
|
rs764371388 CA374548329 |
865 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764371388 CA5193709 |
865 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5193708 rs542844568 |
868 | K>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA374548203 rs1444313752 |
873 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs775526609 CA5193707 |
878 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA198546720 rs1007797044 |
878 | A>V | No |
ClinGen TOPMed |
|
|
rs201372747 CA5193705 |
879 | A>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA374548126 rs1376345434 |
879 | A>V | No |
ClinGen gnomAD |
|
|
rs956501792 CA198546707 |
880 | A>P | No |
ClinGen gnomAD |
|
|
rs956501792 CA374548122 |
880 | A>T | No |
ClinGen gnomAD |
|
|
CA374548080 rs1351287058 |
883 | P>L | No |
ClinGen TOPMed |
|
|
rs771216513 CA5193703 |
884 | S>* | No |
ClinGen ExAC gnomAD |
|
|
CA5193702 rs376372214 |
885 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1165289831 CA374547055 |
888 | K>E | No |
ClinGen TOPMed |
|
|
rs1416912533 CA374547053 |
888 | K>T | No |
ClinGen TOPMed |
|
|
CA5193683 rs766908734 |
889 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5193682 rs763289391 |
890 | I>S | No |
ClinGen ExAC gnomAD |
|
|
CA5193681 rs773591286 |
893 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs773591286 CA374547018 |
893 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs985156030 CA198546205 |
893 | Q>L | No |
ClinGen TOPMed |
|
|
rs1336657427 CA374547012 |
894 | V>M | No |
ClinGen gnomAD |
|
|
CA374547002 rs1291277643 |
895 | F>Y | No |
ClinGen gnomAD |
|
|
rs374739151 CA5193679 |
896 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1288333069 CA374546989 |
897 | S>A | No |
ClinGen TOPMed |
|
|
CA5193678 rs775223337 |
898 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745366625 CA5193676 |
899 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771712098 CA5193677 |
899 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5193675 rs191147161 |
900 | R>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs757196846 CA5193674 |
903 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs373153727 CA5193672 |
904 | L>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
CA5193671 rs755855631 |
905 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA5193669 rs767663853 |
909 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA374546912 rs1419732571 |
909 | N>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 910 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1587949418 CA374546905 |
910 | G>S | No |
ClinGen Ensembl |
|
|
rs751650276 CA5193667 |
912 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5193666 rs551071475 |
913 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs200208600 CA5193665 |
915 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA374546816 rs1483912597 |
916 | T>A | No |
ClinGen TOPMed |
|
|
rs371912906 CA374546738 |
920 | T>M | No |
ClinGen ESP gnomAD |
|
|
rs371912906 CA198546135 |
920 | T>R | No |
ClinGen ESP gnomAD |
|
|
CA5193663 rs765645920 |
922 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1364174705 CA374546706 |
922 | K>R | No |
ClinGen Ensembl |
|
|
rs1021089274 CA198545785 |
923 | M>I | No |
ClinGen Ensembl |
|
|
CA198545789 rs757981753 |
923 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA198545781 rs1014206193 |
924 | V>L | No |
ClinGen Ensembl |
|
|
CA198545773 rs11558691 |
925 | T>N | No |
ClinGen Ensembl |
|
|
CA374546609 rs1564149130 |
926 | L>F | No |
ClinGen Ensembl |
|
|
CA374546585 rs1386763350 |
927 | Q>H | No |
ClinGen gnomAD |
|
| TCGA novel | 930 | N>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1467667303 CA374546525 |
931 | Q>L | No |
ClinGen gnomAD |
|
|
rs1046679688 CA198545756 |
936 | K>T | No |
ClinGen TOPMed |
|
|
rs1313141649 CA374546340 |
939 | S>I | No |
ClinGen gnomAD |
|
|
CA198545750 rs896905696 |
940 | S>C | No |
ClinGen Ensembl |
|
|
rs1435965899 CA374546317 |
940 | S>N | No |
ClinGen gnomAD |
|
|
CA198545747 rs916794934 |
943 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA198545744 rs1036493600 |
946 | E>* | No |
ClinGen gnomAD |
|
|
CA374546151 rs1282800696 |
946 | E>A | No |
ClinGen TOPMed |
|
|
CA374546160 rs1036493600 |
946 | E>K | No |
ClinGen gnomAD |
|
|
rs62620695 CA198545730 |
947 | K>E | No |
ClinGen Ensembl |
|
|
CA374546118 rs1175317916 |
947 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA198545728 rs920031972 |
950 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs754592745 CA198545716 |
951 | R>Q | No |
ClinGen gnomAD |
|
|
rs766499990 CA5193644 |
951 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1486661882 CA374546028 |
953 | R>* | No |
ClinGen gnomAD |
|
|
CA5193643 rs758349654 |
953 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs940896589 CA198545715 |
955 | P>S | No |
ClinGen gnomAD |
|
|
rs1587948825 CA374545978 |
956 | S>P | No |
ClinGen Ensembl |
|
|
CA198545710 rs867503010 |
958 | E>K | No |
ClinGen TOPMed |
|
|
CA198545708 rs867503010 |
958 | E>Q | No |
ClinGen TOPMed |
|
|
rs1318101653 CA374545897 |
960 | S>P | No |
ClinGen gnomAD |
|
|
CA5193642 rs750942276 |
964 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA374545815 rs750942276 |
964 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA5193641 rs765833731 |
964 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1416309020 CA374545757 |
967 | Q>* | No |
ClinGen gnomAD |
|
|
rs1019861634 CA198545688 |
967 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1257222088 CA374545686 |
970 | A>E | No |
ClinGen gnomAD |
|
|
CA374545628 rs754232517 CA5193639 |
973 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA374545635 rs1454231341 |
973 | N>S | No |
ClinGen gnomAD |
|
|
CA5193638 rs767319161 |
974 | R>T | No |
ClinGen ExAC gnomAD |
|
|
rs1418325852 CA374545571 |
976 | R>K | No |
ClinGen gnomAD |
|
|
CA374545570 rs1418325852 |
976 | R>T | No |
ClinGen gnomAD |
|
|
rs773827761 CA198545655 |
977 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5193636 rs773827761 |
977 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA198545647 rs948041474 |
979 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA374545527 rs1210438725 |
980 | P>S | No |
ClinGen TOPMed |
|
|
rs1278407448 CA374545509 |
981 | M>T | No |
ClinGen TOPMed |
|
|
CA374545514 rs1564148721 |
981 | M>V | No |
ClinGen Ensembl |
|
|
CA5193634 rs770489669 |
983 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA374545475 rs1214290985 |
984 | S>L | No |
ClinGen gnomAD |
|
| TCGA novel | 984 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA374545465 rs1328889284 |
985 | E>G | No |
ClinGen gnomAD |
|
|
rs1564148695 CA374545434 |
987 | V>G | No |
ClinGen Ensembl |
|
|
rs773270691 CA5193632 |
989 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 990 | E>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA374545383 rs769709985 COSM266542 |
992 | V>I | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA5193631 rs769709985 |
992 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs183259040 CA5193629 |
993 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5193630 VAR_061544 rs57348436 |
993 | P>T | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1456696270 CA374545351 |
994 | L>W | No |
ClinGen gnomAD |
|
|
rs747265230 CA5193627 |
995 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1166888567 CA374545331 |
996 | P>S | No |
ClinGen gnomAD |
|
|
COSM1489583 CA5193626 rs780071271 |
997 | Q>* | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1047005603 CA198545578 |
997 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA198545574 rs370599862 |
998 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs370599862 CA5193625 |
998 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs565626232 CA5193624 |
999 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA374545280 rs1274179128 |
1001 | T>A | No |
ClinGen gnomAD |
|
|
rs757807532 CA5193621 |
1003 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs754357294 CA5193620 |
1009 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA198545528 rs374835167 |
1010 | G>E | No |
ClinGen ESP TOPMed |
|
|
CA198545538 rs895413967 |
1010 | G>R | No |
ClinGen TOPMed |
|
|
rs1308738465 CA374545086 |
1016 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
CA5193614 rs762585277 |
1020 | I>K | No |
ClinGen ExAC gnomAD |
|
|
CA374545019 rs1564148451 |
1021 | K>N | No |
ClinGen Ensembl |
|
|
rs772690840 CA5193613 |
1024 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA374544988 rs1389760912 |
1024 | S>P | No |
ClinGen gnomAD |
|
|
CA374544975 rs1462745415 |
1025 | L>F | No |
ClinGen gnomAD |
|
|
CA198545487 rs972880334 |
1027 | P>H | No |
ClinGen TOPMed |
|
|
rs769767013 CA5193612 |
1027 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA5193609 COSM3170463 rs768441449 |
1028 | E>K | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA5193610 rs768441449 |
1028 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs376236887 CA5193608 |
1031 | C>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1228696356 CA374544931 |
1032 | I>M | No |
ClinGen TOPMed |
|
|
rs1479828962 CA374544905 |
1036 | R>S | No |
ClinGen TOPMed |
|
|
CA374544897 rs1450176116 |
1038 | L>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA5193606 rs772161019 |
1040 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs370970009 CA5193604 |
1041 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5193605 rs746000522 |
1041 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA374544872 rs1226975857 |
1042 | T>I | No |
ClinGen gnomAD |
|
|
rs569646070 CA5193602 |
1044 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA198545450 rs977942399 |
1046 | P>L | No |
ClinGen Ensembl |
|
|
rs778359853 CA5193601 |
1048 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA374544782 rs1371130266 |
1050 | G>D | No |
ClinGen TOPMed |
|
|
CA374544762 rs1587948368 |
1051 | P>L | No |
ClinGen Ensembl |
|
|
rs1326520185 CA374544723 |
1053 | S>C | No |
ClinGen TOPMed |
|
|
CA5193600 rs780454081 |
1053 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA374544709 rs1392161011 |
1054 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs766107320 CA5193598 |
1055 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766107320 CA5193599 |
1055 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1429112908 CA374544654 |
1056 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
rs757961097 CA5193597 |
1058 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA5193596 rs750024466 |
1059 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1477366165 CA374544591 |
1060 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1477366165 CA374544588 |
1060 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs764737398 CA5193595 |
1066 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs543834605 CA5193594 |
1067 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA374544398 rs1235474273 |
1068 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs61748833 CA5193592 |
1069 | A>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs61748833 CA5193593 |
1069 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs760566242 CA374544366 |
1070 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5193591 rs760566242 |
1070 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5193589 rs771860786 |
1072 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774647096 CA5193587 |
1078 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs148550803 CA5193586 |
1081 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA374544122 rs1280092532 |
1082 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA198545357 rs995174390 |
1085 | P>Q | No |
ClinGen Ensembl |
|
|
CA374544019 rs778488499 |
1087 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs778488499 CA5193584 |
1087 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA5193583 rs756543848 |
1088 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA374543997 rs1476091996 |
1088 | P>S | No |
ClinGen TOPMed |
|
|
rs1376142160 CA374543923 |
1092 | S>G | No |
ClinGen gnomAD |
|
|
CA374543894 rs1314888960 |
1093 | S>A | No |
ClinGen gnomAD |
|
|
CA374543816 rs1459796561 |
1098 | L>V | No |
ClinGen TOPMed |
|
|
rs764858932 CA5193578 |
1099 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1587948217 CA374543753 |
1101 | D>A | No |
ClinGen Ensembl |
|
|
CA5193575 rs764142393 |
1101 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA374543766 rs1454340698 |
1101 | D>H | No |
ClinGen TOPMed |
|
| TCGA novel | 1102 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs572313532 COSM201760 CA5193573 |
1103 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs759345947 CA374543718 |
1104 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5193571 rs759345947 |
1104 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5193572 rs767220150 |
1104 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771270962 CA5193569 |
1105 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5193570 rs771270962 |
1105 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs916831500 CA198545275 |
1106 | D>N | No |
ClinGen TOPMed |
|
|
CA5193567 rs773140343 |
1107 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs773140343 CA374543685 |
1107 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA374543692 rs1214426041 |
1107 | P>S | No |
ClinGen TOPMed |
|
| TCGA novel | 1109 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA198545254 rs1037445074 |
1111 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA5193565 rs748612293 |
1113 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA374543603 rs755397372 |
1117 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs755397372 CA5193563 |
1117 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1188475309 CA374543578 |
1118 | P>L | No |
ClinGen TOPMed |
|
| TCGA novel | 1118 | P>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA374543531 rs1587948103 |
1121 | P>L | No |
ClinGen Ensembl |
|
|
CA5193562 rs747372702 |
1122 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA374543500 rs1564147746 |
1123 | L>R | No |
ClinGen Ensembl |
|
|
rs543080319 CA5193561 |
1126 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
rs756882821 CA5193560 |
1127 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753439653 CA5193559 |
1129 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5193558 rs376981807 |
1131 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs376981807 CA5193557 |
1131 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1419523938 CA374543332 |
1131 | S>P | No |
ClinGen gnomAD |
|
|
rs377071576 CA5193556 COSM1104186 |
1132 | T>I | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA5193554 rs759468795 |
1133 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1133 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751366639 CA5193553 |
1134 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA374543247 rs1214045936 |
1135 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1336675905 CA374543235 |
1136 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1292217630 CA374543221 |
1136 | K>T | No |
ClinGen gnomAD |
|
|
CA374543165 rs564017427 |
1139 | S>* | No |
ClinGen 1000Genomes TOPMed |
|
|
CA198545208 rs564017427 |
1139 | S>L | No |
ClinGen 1000Genomes TOPMed |
|
|
rs774686895 CA5193552 |
1140 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA5193551 rs763286544 |
1141 | T>K | No |
ClinGen ExAC gnomAD |
|
|
CA198545204 rs867750686 |
1141 | T>S | No |
ClinGen Ensembl |
|
|
rs1437872334 CA374543107 |
1142 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1270885268 CA374543115 |
1142 | E>K | No |
ClinGen gnomAD |
|
|
rs369862149 CA198545197 |
1147 | V>A | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1442015621 CA374542987 |
1148 | A>G | No |
ClinGen gnomAD |
|
|
rs985298760 CA198545186 |
1151 | A>T | No |
ClinGen Ensembl |
|
|
rs1397160918 CA374542894 |
1154 | P>L | No |
ClinGen gnomAD |
|
|
rs376767852 CA5193550 |
1155 | S>G | No |
ClinGen ESP ExAC TOPMed |
|
|
CA198545177 rs957287550 |
1155 | S>N | No |
ClinGen TOPMed |
|
|
CA5193549 rs769780882 |
1158 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA374542850 rs769780882 |
1158 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
rs181587098 CA5193548 |
1159 | Q>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1404472484 CA374542845 |
1159 | Q>R | No |
ClinGen gnomAD |
|
|
CA5193547 rs578095023 |
1160 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs375508657 CA5193546 COSM1207165 |
1160 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA5193545 rs747424042 |
1162 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA374542829 rs1194196971 |
1162 | S>N | No |
ClinGen gnomAD |
|
|
CA198544759 rs1021246323 |
1163 | L>I | No |
ClinGen Ensembl |
|
|
CA5193527 rs761203356 |
1166 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs753347033 CA374542370 |
1166 | D>N | No |
ClinGen gnomAD |
|
|
CA198544749 rs753347033 |
1166 | D>Y | No |
ClinGen gnomAD |
|
|
rs376382548 CA5193526 |
1167 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs184762226 CA5193525 |
1169 | D>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5193523 rs777354686 |
1170 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA374542201 rs1260785775 |
1176 | T>A | No |
ClinGen TOPMed |
|
|
CA5193519 rs754494163 |
1179 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA5193518 rs746943184 |
1182 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1412940454 CA374542122 |
1183 | K>* | No |
ClinGen TOPMed |
|
|
rs1385334199 CA374542099 |
1185 | Q>E | No |
ClinGen gnomAD |
|
|
CA374542077 rs1251147101 |
1186 | P>R | No |
ClinGen gnomAD |
|
|
rs891160201 CA198544682 |
1187 | E>K | No |
ClinGen gnomAD |
|
|
rs891160201 CA374542072 |
1187 | E>Q | No |
ClinGen gnomAD |
|
|
rs1162440042 CA374542031 |
1189 | E>D | No |
ClinGen gnomAD |
|
|
rs189472163 CA374541991 |
1192 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs765429463 CA5193513 |
1193 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs757524285 CA5193512 |
1194 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1587947213 CA374541971 |
1194 | V>L | No |
ClinGen Ensembl |
|
|
rs1289525768 CA374541775 |
1196 | M>I | No |
ClinGen gnomAD |
|
|
CA374541779 rs1382694025 |
1196 | M>T | No |
ClinGen gnomAD |
|
|
rs200575573 CA5193502 |
1198 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs372719818 CA5193501 COSM1459389 |
1199 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA5193500 rs746517705 |
1199 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780183295 CA5193499 |
1200 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs531828583 CA5193495 |
1203 | T>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs369118111 CA198543992 |
1203 | T>M | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA374541729 rs1587945823 |
1205 | L>F | No |
ClinGen Ensembl |
|
|
rs75624182 CA5193493 |
1208 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA198543988 rs938913750 |
1211 | D>N | No |
ClinGen TOPMed |
|
|
rs113480944 CA5193492 |
1212 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
CA5193488 rs754073510 |
1213 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1214 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs375705786 CA374541652 |
1215 | I>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5193486 rs375705786 |
1215 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1254095253 CA374541646 |
1216 | D>G | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 1216 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1264519188 CA374541627 |
1218 | L>P | No |
ClinGen gnomAD |
|
|
CA5193483 rs767956533 |
1219 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA5193482 rs767956533 |
1219 | G>V | No |
ClinGen ExAC gnomAD |
No associated diseases with Q5T1M5
1 regional properties for Q5T1M5
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | FKBP-type peptidyl-prolyl cis-trans isomerase domain | 130 - 254 | IPR001179 |
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| actin cytoskeleton | The part of the cytoskeleton (the internal framework of a cell) composed of actin and associated proteins. Includes actin cytoskeleton-associated complexes. |
| early endosome | A membrane-bounded organelle that receives incoming material from primary endocytic vesicles that have been generated by clathrin-dependent and clathrin-independent endocytosis; vesicles fuse with the early endosome to deliver cargo for sorting into recycling or degradation pathways. |
| growth cone | The migrating motile tip of a growing neuron projection, where actin accumulates, and the actin cytoskeleton is the most dynamic. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| actin binding | Binding to monomeric or multimeric forms of actin, including actin filaments. |
| peptidyl-prolyl cis-trans isomerase activity | Catalysis of the reaction: peptidyl-proline (omega=180) = peptidyl-proline (omega=0). |
1 GO annotations of biological process
| Name | Definition |
|---|---|
| endocytosis | A vesicle-mediated transport process in which cells take up external materials or membrane constituents by the invagination of a small region of the plasma membrane to form a new membrane-bounded vesicle. |
2 homologous proteins in AiPD
| 10 | 20 | 30 | 40 | 50 | 60 |
| MFGAGDEDDT | DFLSPSGGAR | LASLFGLDQA | AAGHGNEFFQ | YTAPKQPKKG | QGTAATGNQA |
| 70 | 80 | 90 | 100 | 110 | 120 |
| TPKTAPATMS | TPTILVATAV | HAYRYTNGQY | VKQGKFGAAV | LGNHTAREYR | ILLYISQQQP |
| 130 | 140 | 150 | 160 | 170 | 180 |
| VTVARIHVNF | ELMVRPNNYS | TFYDDQRQNW | SIMFESEKAA | VEFNKQVCIA | KCNSTSSLDA |
| 190 | 200 | 210 | 220 | 230 | 240 |
| VLSQDLIVAD | GPAVEVGDSL | EVAYTGWLFQ | NHVLGQVFDS | TANKDKLLRL | KLGSGKVIKG |
| 250 | 260 | 270 | 280 | 290 | 300 |
| WEDGMLGMKK | GGKRLLIVPP | ACAVGSEGVI | GWTQATDSIL | VFEVEVRRVK | FARDSGSDGH |
| 310 | 320 | 330 | 340 | 350 | 360 |
| SVSSRDSAAP | SPIPGADNLS | ADPVVSPPTS | IPFKSGEPAL | RTKSNSLSEQ | LAINTSPDAV |
| 370 | 380 | 390 | 400 | 410 | 420 |
| KAKLISRMAK | MGQPMLPILP | PQLDSNDSEI | EDVNTLQGGG | QPVVTPSVQP | SLHPAHPALP |
| 430 | 440 | 450 | 460 | 470 | 480 |
| QMTSQAPQPS | VTGLQAPSAA | LMQVSSLDSH | SAVSGNAQSF | QPYAGMQAYA | YPQASAVTSQ |
| 490 | 500 | 510 | 520 | 530 | 540 |
| LQPVRPLYPA | PLSQPPHFQG | SGDMASFLMT | EARQHNTEIR | MAVSKVADKM | DHLMTKVEEL |
| 550 | 560 | 570 | 580 | 590 | 600 |
| QKHSAGNSML | IPSMSVTMET | SMIMSNIQRI | IQENERLKQE | ILEKSNRIEE | QNDKISELIE |
| 610 | 620 | 630 | 640 | 650 | 660 |
| RNQRYVEQSN | LMMEKRNNSL | QTATENTQAR | VLHAEQEKAK | VTEELAAATA | QVSHLQLKMT |
| 670 | 680 | 690 | 700 | 710 | 720 |
| AHQKKETELQ | MQLTESLKET | DLLRGQLTKV | QAKLSELQET | SEQAQSKFKS | EKQNRKQLEL |
| 730 | 740 | 750 | 760 | 770 | 780 |
| KVTSLEEELT | DLRVEKESLE | KNLSERKKKS | AQERSQAEEE | IDEIRKSYQE | ELDKLRQLLK |
| 790 | 800 | 810 | 820 | 830 | 840 |
| KTRVSTDQAA | AEQLSLVQAE | LQTQWEAKCE | HLLASAKDEH | LQQYQEVCAQ | RDAYQQKLVQ |
| 850 | 860 | 870 | 880 | 890 | 900 |
| LQEKCLALQA | QITALTKQNE | QHIKELEKNK | SQMSGVEAAA | SDPSEKVKKI | MNQVFQSLRR |
| 910 | 920 | 930 | 940 | 950 | 960 |
| EFELEESYNG | RTILGTIMNT | IKMVTLQLLN | QQEQEKEESS | SEEEEEKAEE | RPRRPSQEQS |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| ASASSGQPQA | PLNRERPESP | MVPSEQVVEE | AVPLPPQALT | TSQDGHRRKG | DSEAEALSEI |
| 1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
| KDGSLPPELS | CIPSHRVLGP | PTSIPPEPLG | PVSMDSECEE | SLAASPMAAK | PDNPSGKVCV |
| 1090 | 1100 | 1110 | 1120 | 1130 | 1140 |
| REVAPDGPLQ | ESSTRLSLTS | DPEEGDPLAL | GPESPGEPQP | PQLKKDDVTS | STGPHKELSS |
| 1150 | 1160 | 1170 | 1180 | 1190 | 1200 |
| TEAGSTVAGA | ALRPSHHSQR | SSLSGDEEDE | LFKGATLKAL | RPKAQPEEED | EDEVSMKGRP |
| 1210 | |||||
| PPTPLFGDDD | DDDDIDWLG |