Q9UFC0
Gene name |
LRWD1 (CENP-33) |
Protein name |
Leucine-rich repeat and WD repeat-containing protein 1 |
Names |
Centromere protein 33, CENP-33, Origin recognition complex-associated protein, ORC-associated protein, ORCA |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:222229 |
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 Q9UFC0
Entry ID | Method | Resolution | Chain | Position | Source |
---|---|---|---|---|---|
AF-Q9UFC0-F1 | Predicted | AlphaFoldDB |
685 variants for Q9UFC0
Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
---|---|---|---|---|---|
rs942139397 CA163444834 |
2 | G>D | No |
ClinGen Ensembl |
|
CA368711394 rs1272444045 |
3 | P>L | No |
ClinGen TOPMed |
|
rs1322159427 CA368711384 |
3 | P>T | No |
ClinGen TOPMed |
|
rs1454372987 CA368711402 |
4 | L>F | No |
ClinGen gnomAD |
|
rs1386701376 CA368711435 |
6 | A>V | No |
ClinGen gnomAD |
|
CA368711479 rs1218515343 |
10 | M>I | No |
ClinGen gnomAD |
|
CA368711476 rs1341821064 |
10 | M>R | No |
ClinGen TOPMed |
|
CA368711493 rs1299107006 |
11 | Q>R | No |
ClinGen gnomAD |
|
rs1278293518 CA368711507 |
12 | R>H | No |
ClinGen TOPMed |
|
rs867907415 CA163444871 |
13 | G>W | No |
ClinGen gnomAD |
|
rs1215863037 CA368711526 |
14 | R>C | No |
ClinGen gnomAD |
|
CA368711532 rs1199041286 |
14 | R>H | No |
ClinGen gnomAD |
|
CA163444888 rs1023209207 |
16 | K>R | No |
ClinGen TOPMed gnomAD |
|
CA4413384 rs765973508 |
17 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA368711589 rs1163384777 |
18 | D>E | No |
ClinGen TOPMed |
|
rs761307074 CA4413386 |
18 | D>N | No |
ClinGen ExAC |
|
rs1488364495 CA368711592 |
19 | R>W | No |
ClinGen gnomAD |
|
rs1424337076 CA368711619 |
21 | G>V | No |
ClinGen TOPMed |
|
CA368711641 rs1158483641 |
23 | I>N | No |
ClinGen gnomAD |
|
CA368711648 rs1192597769 |
24 | R>W | No |
ClinGen TOPMed |
|
CA163444932 rs1002390196 |
25 | S>C | No |
ClinGen Ensembl |
|
rs757494335 | 26 | L>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
rs1430452923 CA368711675 |
26 | L>V | No |
ClinGen TOPMed gnomAD |
|
TCGA novel | 27 | D>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA4413442 rs200711890 |
32 | E>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA368712352 rs1266459293 |
34 | L>F | No |
ClinGen gnomAD |
|
CA368712386 rs1449755963 |
35 | S>C | No |
ClinGen gnomAD |
|
CA4413444 rs778703203 |
36 | E>K | No |
ClinGen ExAC gnomAD |
|
rs778703203 CA368712398 |
36 | E>Q | No |
ClinGen ExAC gnomAD |
|
rs1471979849 CA368712446 |
38 | L>V | No |
ClinGen TOPMed gnomAD |
|
rs745574402 CA4413445 |
40 | P>S | No |
ClinGen ExAC gnomAD |
|
CA368712598 rs1393586988 |
45 | R>C | No |
ClinGen gnomAD |
|
rs773384348 CA368712605 |
45 | R>L | No |
ClinGen ExAC gnomAD |
|
CA4413451 rs773384348 |
45 | R>P | No |
ClinGen ExAC gnomAD |
|
CA368712691 rs1159129086 |
51 | E>Q | No |
ClinGen TOPMed gnomAD |
|
rs990057895 CA163445686 |
53 | D>A | No |
ClinGen TOPMed |
|
COSM744377 rs1341261798 CA368712780 |
55 | S>F | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
CA4413453 rs771346770 |
57 | N>H | No |
ClinGen ExAC gnomAD |
|
CA368712824 rs1586736446 |
57 | N>T | No |
ClinGen Ensembl |
|
CA368712854 rs1207125477 |
58 | H>P | No |
ClinGen gnomAD |
|
CA4413455 rs117376828 |
60 | E>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA4413456 rs756456696 |
61 | T>M | No |
ClinGen ExAC gnomAD |
|
rs371342787 CA4413459 COSM290324 |
63 | P>L | Variant assessed as Somatic; 0.0 impact. large_intestine central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
CA4413458 rs371342787 |
63 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1186419463 CA368712956 |
63 | P>S | No |
ClinGen gnomAD |
|
rs979789955 CA163445744 |
64 | D>H | No |
ClinGen TOPMed |
|
rs979789955 CA163445750 |
64 | D>Y | No |
ClinGen TOPMed |
|
rs1434355842 CA368713001 |
65 | N>S | No |
ClinGen TOPMed |
|
CA368713007 rs753783952 |
66 | L>M | No |
ClinGen ExAC gnomAD |
|
rs753783952 CA4413460 |
66 | L>V | No |
ClinGen ExAC gnomAD |
|
CA368713041 rs1169691082 |
68 | L>V | No |
ClinGen gnomAD |
|
rs757104289 CA4413461 |
69 | S>T | No |
ClinGen ExAC gnomAD |
|
rs1586736512 CA368713084 |
70 | H>P | No |
ClinGen Ensembl |
|
CA368713129 COSM3745437 rs1395607947 |
72 | R>H | liver [Cosmic] | No |
ClinGen cosmic curated gnomAD |
CA368713134 rs1395607947 |
72 | R>L | No |
ClinGen gnomAD |
|
CA368713165 rs1328486327 |
74 | L>F | No |
ClinGen gnomAD |
|
CA4413465 rs779659216 |
75 | R>C | No |
ClinGen ExAC gnomAD |
|
rs779659216 CA368713186 |
75 | R>G | No |
ClinGen ExAC gnomAD |
|
rs1341324971 CA368713194 |
75 | R>H | No |
ClinGen gnomAD |
|
CA4413467 rs139115115 |
77 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs139115115 CA4413468 COSM1083501 |
77 | A>T | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
rs1364274304 CA368713259 |
78 | N>S | No |
ClinGen TOPMed |
|
rs1483294553 CA368713290 |
79 | N>S | No |
ClinGen TOPMed gnomAD |
|
CA368713311 rs1199455001 |
80 | Q>* | No |
ClinGen gnomAD |
|
CA368713305 rs1199455001 |
80 | Q>K | No |
ClinGen gnomAD |
|
rs901406802 CA163445862 |
82 | G>E | No |
ClinGen TOPMed gnomAD |
|
rs201713941 CA163445870 |
84 | V>G | No |
ClinGen TOPMed gnomAD |
|
CA4413470 rs572352133 |
84 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs1389980580 CA368713419 |
85 | T>I | No |
ClinGen gnomAD |
|
CA4413471 rs774729386 |
86 | A>T | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 86 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA4413473 rs143977682 CA4413472 |
87 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA163445911 rs913040809 |
88 | C>Y | No |
ClinGen TOPMed |
|
CA4413474 rs775364198 |
89 | Q>L | No |
ClinGen ExAC gnomAD |
|
CA368713525 rs1391070066 |
91 | P>S | No |
ClinGen gnomAD |
|
CA368713556 rs146433593 |
92 | K>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA4413476 rs764136889 |
92 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs753792771 CA4413477 |
92 | K>R | No |
ClinGen ExAC gnomAD |
|
rs1303313942 CA368713580 |
94 | E>K | No |
ClinGen gnomAD |
|
rs750262596 CA4413480 |
96 | L>R | No |
ClinGen ExAC gnomAD |
|
rs758064778 CA4413481 |
97 | S>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
CA4413483 rs751231484 |
100 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA368713701 rs1208988500 |
101 | N>K | No |
ClinGen gnomAD |
|
CA368713754 rs1463823086 |
105 | T>M | No |
ClinGen gnomAD |
|
CA4413503 rs199648871 |
106 | V>L | No |
ClinGen ExAC gnomAD |
|
CA4413505 rs757696550 |
107 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
CA368713821 rs1287210530 |
107 | N>K | No |
ClinGen gnomAD |
|
rs757696550 CA4413504 |
107 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA368713827 rs1370683612 |
108 | D>Y | No |
ClinGen gnomAD |
|
CA4413506 rs746430950 |
110 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA163446110 rs367718460 |
112 | V>I | No |
ClinGen ESP |
|
rs1326543810 CA368713898 |
113 | S>C | No |
ClinGen TOPMed |
|
CA163446111 rs980198446 |
114 | F>S | No |
ClinGen TOPMed |
|
TCGA novel | 115 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1321504989 CA368713927 |
115 | L>P | No |
ClinGen gnomAD |
|
rs1321504989 CA368713928 |
115 | L>R | No |
ClinGen gnomAD |
|
CA368713938 rs1483697145 |
116 | L>Q | No |
ClinGen TOPMed gnomAD |
|
CA368713935 rs747209954 |
116 | L>V | No |
ClinGen ExAC gnomAD |
|
CA368713945 rs1249753194 |
117 | P>S | No |
ClinGen gnomAD |
|
CA4413511 rs776711578 |
118 | T>A | No |
ClinGen ExAC gnomAD |
|
rs200399227 CA4413512 |
118 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA368713964 rs1470137649 |
119 | L>I | No |
ClinGen TOPMed |
|
rs770823521 CA4413515 |
120 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs766162260 CA4413516 |
120 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs766162260 CA4413517 |
120 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
rs767082952 CA4413519 |
123 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA368714033 rs1339006507 |
124 | G>S | No |
ClinGen TOPMed |
|
CA368714056 rs1284143028 |
125 | K>R | No |
ClinGen gnomAD |
|
rs1295737558 CA368714069 |
126 | D>G | No |
ClinGen TOPMed |
|
CA368714072 rs1295737558 |
126 | D>V | No |
ClinGen TOPMed |
|
rs745680542 CA163446246 |
127 | A>T | No |
ClinGen Ensembl |
|
CA4413520 rs752415055 |
127 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA163446272 rs898147005 |
128 | S>F | No |
ClinGen Ensembl |
|
rs986641243 CA368714106 |
129 | S>* | No |
ClinGen TOPMed gnomAD |
|
CA163446281 rs986641243 |
129 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
CA4413522 rs763641989 |
130 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1330348462 CA830694079 |
131 | Y>* | No |
ClinGen TOPMed |
|
rs750898527 CA4413523 |
131 | Y>C | No |
ClinGen ExAC gnomAD |
|
rs1275510009 CA368714148 |
133 | Q>* | No |
ClinGen gnomAD |
|
rs776457074 CA163446307 |
134 | V>M | No |
ClinGen Ensembl |
|
rs911322445 CA163446315 |
135 | E>G | No |
ClinGen TOPMed |
|
rs1563653330 CA368714232 |
139 | R>Q | No |
ClinGen Ensembl |
|
rs77479583 CA4413525 |
139 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs751880306 CA4413526 COSM598050 |
140 | E>K | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
rs1181492303 CA368714279 |
143 | S>G | No |
ClinGen gnomAD |
|
rs771112724 CA4413554 |
146 | T>K | No |
ClinGen ExAC gnomAD |
|
rs1442668983 CA368715694 |
149 | W>G | No |
ClinGen TOPMed |
|
rs1249878121 CA368715702 |
150 | E>K | No |
ClinGen TOPMed |
|
rs77359539 CA163447539 |
153 | M>R | No |
ClinGen TOPMed |
|
CA368715729 rs77359539 |
153 | M>T | No |
ClinGen TOPMed |
|
rs914045179 CA163447521 |
153 | M>V | No |
ClinGen TOPMed |
|
CA4413555 rs542708497 |
154 | A>V | No |
ClinGen ExAC gnomAD |
|
CA4413557 rs202069180 |
155 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs372583053 CA4413556 |
155 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA4413558 rs143788158 |
156 | L>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA368715750 rs1330777585 |
157 | G>D | No |
ClinGen gnomAD |
|
rs746611053 CA4413559 |
159 | E>K | No |
ClinGen ExAC gnomAD |
|
rs1157150803 CA368715772 |
160 | E>D | No |
ClinGen gnomAD |
|
rs1393354817 CA368715797 |
164 | K>E | No |
ClinGen gnomAD |
|
CA4413560 rs768310536 |
164 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA4413562 rs141905334 |
166 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs375573347 CA4413564 |
167 | A>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1411716337 CA368715817 |
167 | A>P | No |
ClinGen gnomAD |
|
rs375573347 CA4413563 |
167 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs753130559 CA4413567 |
172 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA368715855 COSM1446884 rs1302284212 |
173 | A>T | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
CA368715877 rs1290924891 |
176 | D>V | No |
ClinGen gnomAD |
|
CA368715882 rs1563654506 |
177 | V>I | No |
ClinGen Ensembl |
|
CA4413570 rs570334710 |
178 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA4413571 rs757260413 |
178 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA4413572 rs757260413 |
178 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA368715898 rs200102694 |
179 | Y>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA368715892 rs1427349421 |
179 | Y>H | No |
ClinGen TOPMed |
|
rs758350510 CA4413574 CA4413575 |
180 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs768504896 CA4413577 |
182 | E>* | No |
ClinGen ExAC |
|
CA368715917 rs1586738958 |
183 | S>A | No |
ClinGen Ensembl |
|
CA163447679 rs11538920 |
183 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA4413578 rs11538920 |
183 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
CA4413580 rs560973225 |
185 | S>R | No |
ClinGen ExAC gnomAD |
|
CA368715926 rs1308666984 |
185 | S>R | No |
ClinGen gnomAD |
|
rs772802522 CA4413581 |
186 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
CA368715941 rs1315101680 |
187 | F>L | No |
ClinGen gnomAD |
|
rs760062101 CA4413583 |
189 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA368715959 rs1267794288 |
189 | Q>P | No |
ClinGen TOPMed |
|
CA4413584 rs768147449 |
191 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA368715972 rs768147449 |
191 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA368715971 rs1314161074 |
191 | R>W | No |
ClinGen TOPMed gnomAD |
|
rs1331185835 CA368715984 |
192 | V>M | No |
ClinGen TOPMed gnomAD |
|
rs966938413 CA163448063 |
193 | R>G | No |
ClinGen TOPMed gnomAD |
|
rs75691611 CA368715991 |
193 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs75691611 CA4413613 |
193 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA368715990 rs966938413 |
193 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
rs763006197 CA4413614 |
195 | I>L | No |
ClinGen ExAC gnomAD |
|
rs1358630240 CA368716012 |
196 | S>C | No |
ClinGen TOPMed |
|
rs1246490265 CA368716009 |
196 | S>P | No |
ClinGen TOPMed |
|
CA368716021 rs1485150573 |
197 | E>D | No |
ClinGen gnomAD |
|
CA163448086 rs912025356 |
198 | E>* | No |
ClinGen TOPMed |
|
CA368716027 rs1265556743 |
198 | E>D | No |
ClinGen gnomAD |
|
rs766492912 CA4413615 |
199 | L>R | No |
ClinGen ExAC |
|
rs1586739333 CA368716038 |
200 | V>G | No |
ClinGen Ensembl |
|
COSM3831479 CA368716042 rs1586739336 |
201 | A>V | breast [Cosmic] | No |
ClinGen cosmic curated Ensembl |
rs150636663 CA368716046 |
202 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs150636663 CA4413617 COSM1178977 |
202 | A>T | prostate [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
CA368716049 rs1197424828 |
202 | A>V | No |
ClinGen gnomAD |
|
CA163448120 rs1048034404 |
203 | S>N | No |
ClinGen TOPMed |
|
rs1159503607 CA368716059 |
204 | R>K | No |
ClinGen TOPMed gnomAD |
|
CA163448148 rs967791669 |
208 | Q>R | No |
ClinGen Ensembl |
|
rs1366182970 CA368716092 |
209 | K>E | No |
ClinGen gnomAD |
|
rs755933895 CA4413621 |
210 | A>S | No |
ClinGen ExAC gnomAD |
|
CA368716120 rs1280853788 |
213 | P>T | No |
ClinGen gnomAD |
|
rs1306665029 CA368716138 |
215 | K>M | No |
ClinGen TOPMed gnomAD |
|
CA4413623 rs201552506 |
215 | K>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1475749213 CA368716144 |
216 | P>R | No |
ClinGen TOPMed |
|
rs770536890 CA4413624 |
216 | P>S | No |
ClinGen ExAC gnomAD |
|
CA368716149 rs1266524918 |
217 | P>Q | No |
ClinGen gnomAD |
|
rs1490341830 CA368716152 |
218 | E>K | No |
ClinGen gnomAD |
|
CA163448209 rs986744469 |
220 | G>R | No |
ClinGen TOPMed gnomAD |
|
CA4413626 rs747466458 |
221 | A>T | No |
ClinGen ExAC |
|
rs769215241 CA4413627 |
222 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs769215241 CA368716180 |
222 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1490126942 CA368716185 |
223 | H>P | No |
ClinGen TOPMed |
|
CA368716183 rs1368040110 |
223 | H>Y | No |
ClinGen gnomAD |
|
rs35310665 CA4413628 |
224 | K>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA368716198 rs1417070845 |
225 | P>S | No |
ClinGen gnomAD |
|
CA163448264 rs529846798 |
226 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs530661786 CA163448269 |
226 | R>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA368716234 rs1385839265 |
229 | L>Q | No |
ClinGen TOPMed |
|
CA4413644 rs374518114 |
230 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs147219459 CA368716264 |
234 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs147219459 CA4413647 |
234 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
rs781715136 CA4413646 |
234 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
CA368716306 rs771146660 |
237 | D>E | No |
ClinGen ExAC TOPMed |
|
rs749456596 CA4413650 |
237 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs149295133 CA4413653 |
238 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1421915841 CA368716334 |
239 | P>L | No |
ClinGen TOPMed gnomAD |
|
CA4413655 rs555553995 |
239 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA4413657 rs368660562 |
241 | S>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1327486373 CA368716376 |
243 | S>P | No |
ClinGen gnomAD |
|
CA4413658 rs763929295 |
244 | P>S | No |
ClinGen ExAC gnomAD |
|
rs557613738 CA4413660 |
247 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs753697304 CA4413659 |
247 | R>W | Variant assessed as Somatic; 0.0002108 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
rs937924960 CA163448557 |
248 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
rs1321732122 CA368716483 |
250 | A>V | No |
ClinGen gnomAD |
|
rs750100070 CA4413662 |
252 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs750100070 CA4413663 |
252 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs575719006 CA4413665 |
253 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
CA4413667 rs778047531 |
254 | A>S | No |
ClinGen ExAC gnomAD |
|
CA4413668 rs749648883 |
254 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs774537250 CA4413670 |
256 | V>A | No |
ClinGen ExAC gnomAD |
|
rs1000515753 CA163448636 |
256 | V>M | No |
ClinGen Ensembl |
|
CA4413673 rs746121183 |
258 | G>D | No |
ClinGen ExAC gnomAD |
|
rs1586739734 CA368716605 |
260 | P>R | No |
ClinGen Ensembl |
|
CA163448669 rs902588150 |
261 | V>L | No |
ClinGen TOPMed |
|
rs772153478 CA4413674 |
262 | A>V | No |
ClinGen ExAC |
|
rs545896317 CA4413675 |
263 | G>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA368716650 rs1343820858 |
264 | S>F | No |
ClinGen gnomAD |
|
rs112002983 CA4413678 |
265 | D>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA4413677 COSM3949666 rs764127576 |
265 | D>N | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
CA163448730 rs111757318 |
268 | Q>L | No |
ClinGen Ensembl |
|
CA163448714 rs111757318 |
268 | Q>P | No |
ClinGen Ensembl |
|
rs1245369402 CA368716784 |
270 | A>D | No |
ClinGen gnomAD |
|
CA368716778 rs1180055821 |
270 | A>T | No |
ClinGen gnomAD |
|
rs1383986891 CA368716822 |
273 | L>V | No |
ClinGen gnomAD |
|
rs144573118 CA4413709 |
274 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA368716831 rs1431719397 |
274 | E>K | No |
ClinGen gnomAD |
|
CA368716851 rs750754791 |
275 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
rs758860057 CA4413712 |
275 | P>H | No |
ClinGen ExAC gnomAD |
|
rs750754791 CA368716853 |
275 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA4413711 rs750754791 |
275 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1384727909 CA368716872 |
277 | H>Y | No |
ClinGen gnomAD |
|
CA4413714 rs747282451 |
278 | F>L | No |
ClinGen ExAC gnomAD |
|
CA4413716 rs781450486 |
279 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
CA4413715 rs148425285 |
279 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1228931373 CA368716912 |
280 | Q>* | No |
ClinGen gnomAD |
|
CA368716937 rs1251416337 |
281 | C>F | No |
ClinGen gnomAD |
|
rs1193722997 CA368716956 |
282 | H>L | No |
ClinGen gnomAD |
|
CA368717067 rs769859590 |
286 | N>K | No |
ClinGen ExAC gnomAD |
|
CA4413717 rs748048714 |
286 | N>S | No |
ClinGen ExAC gnomAD |
|
rs1440763156 CA368717082 |
287 | S>N | No |
ClinGen TOPMed |
|
rs1372587872 CA368717101 |
288 | P>L | No |
ClinGen gnomAD |
|
CA163448920 rs372762588 |
288 | P>S | No |
ClinGen ESP gnomAD |
|
CA4413719 rs570902848 |
289 | Q>* | No |
ClinGen 1000Genomes ExAC |
|
rs1407185666 CA368717198 |
292 | E>D | No |
ClinGen TOPMed gnomAD |
|
rs370482367 CA4413721 |
292 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1421319554 CA368718299 |
296 | W>R | No |
ClinGen TOPMed |
|
rs1586740010 CA368718324 |
297 | A>D | No |
ClinGen Ensembl |
|
rs1335884705 CA368718351 |
299 | A>T | No |
ClinGen gnomAD |
|
rs773848190 CA368718373 |
300 | F>L | No |
ClinGen ExAC gnomAD |
|
CA163451089 rs1040788149 |
301 | E>G | No |
ClinGen TOPMed |
|
CA368718375 rs1295592224 |
301 | E>K | No |
ClinGen gnomAD |
|
COSM744376 rs766967262 CA4413725 |
302 | P>L | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
rs759222684 CA4413724 |
302 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs765655034 CA4413728 |
303 | A>G | No |
ClinGen ExAC gnomAD |
|
rs1203394041 CA368718443 |
303 | A>P | No |
ClinGen TOPMed gnomAD |
|
CA368718445 rs1203394041 |
303 | A>S | No |
ClinGen TOPMed gnomAD |
|
CA368718447 rs765655034 |
303 | A>V | No |
ClinGen ExAC gnomAD |
|
rs1206239968 CA368718460 |
304 | W>C | No |
ClinGen gnomAD |
|
rs750992768 CA4413729 |
304 | W>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1261716822 CA368718467 |
305 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
CA4413730 rs758664434 |
306 | E>K | No |
ClinGen ExAC gnomAD |
|
rs751985953 CA4413753 |
307 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
rs766806541 CA4413731 CA368718501 |
307 | G>R | No |
ClinGen ExAC gnomAD |
|
CA368718571 rs1297906013 |
308 | A>S | No |
ClinGen gnomAD |
|
CA368718568 rs1297906013 |
308 | A>T | No |
ClinGen gnomAD |
|
CA368718575 rs1375153004 |
308 | A>V | No |
ClinGen TOPMed gnomAD |
|
rs558329285 CA163451444 |
309 | T>I | No |
ClinGen 1000Genomes |
|
COSM1214038 rs1226641572 CA368718636 |
313 | V>M | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
rs756118406 CA4413757 |
315 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs1243643116 CA368718753 |
317 | G>D | No |
ClinGen gnomAD |
|
rs979331933 CA163451499 |
317 | G>S | No |
ClinGen TOPMed gnomAD |
|
rs1179557588 CA368718757 |
318 | G>R | No |
ClinGen TOPMed gnomAD |
|
CA368718763 rs1179557588 |
318 | G>W | No |
ClinGen TOPMed gnomAD |
|
rs1586740317 CA368718781 |
319 | E>G | No |
ClinGen Ensembl |
|
TCGA novel | 319 | E>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA368718804 rs1169306137 |
320 | A>V | No |
ClinGen TOPMed gnomAD |
|
rs1471142179 CA368718807 CA368718806 |
321 | V>L | No |
ClinGen gnomAD |
|
CA163451522 rs572894856 |
322 | C>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs572894856 CA4413762 |
322 | C>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA368718814 rs1382624077 |
322 | C>Y | No |
ClinGen gnomAD |
|
CA163451534 rs866298455 |
323 | V>I | No |
ClinGen TOPMed gnomAD |
|
rs866298455 CA368718830 |
323 | V>L | No |
ClinGen TOPMed gnomAD |
|
rs746712396 CA368718862 |
324 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
rs894882359 CA163451541 |
324 | I>T | No |
ClinGen TOPMed |
|
CA4413764 rs775099117 |
324 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1325977545 CA368718905 |
326 | C>Y | No |
ClinGen gnomAD |
|
CA368718933 rs1205289989 |
327 | Q>* | No |
ClinGen gnomAD |
|
CA4413766 rs539926870 |
328 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA368718979 rs539926870 |
328 | T>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs749017286 CA163451549 |
328 | T>S | No |
ClinGen TOPMed gnomAD |
|
CA163451593 rs967968057 |
329 | G>S | No |
ClinGen TOPMed |
|
rs999412968 CA163451602 |
330 | I>F | No |
ClinGen TOPMed gnomAD |
|
CA368719033 CA368719037 rs371074849 |
331 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA4413769 rs371074849 |
331 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA368719059 rs1563655684 |
332 | L>F | No |
ClinGen Ensembl |
|
CA4413770 rs375633907 |
332 | L>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
TCGA novel | 333 | H>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA4413771 rs759957740 |
333 | H>Q | No |
ClinGen ExAC |
|
rs1413182975 CA368719082 |
333 | H>Y | No |
ClinGen gnomAD |
|
CA163451699 rs143862915 |
334 | K>E | No |
ClinGen ESP TOPMed gnomAD |
|
rs1218934500 CA368719129 |
335 | Y>D | No |
ClinGen TOPMed |
|
CA4413772 rs768036912 |
336 | K>R | No |
ClinGen ExAC |
|
CA368719190 rs1296459750 |
337 | A>P | No |
ClinGen gnomAD |
|
CA368719209 rs1347567402 |
337 | A>V | No |
ClinGen gnomAD |
|
rs1283612812 CA368719232 |
338 | P>L | No |
ClinGen gnomAD |
|
CA368719223 rs1224372270 |
338 | P>S | No |
ClinGen gnomAD |
|
rs573274500 CA4413774 |
339 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA4413776 rs372295492 |
340 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1215198553 CA368719270 |
340 | E>V | No |
ClinGen TOPMed gnomAD |
|
rs751373991 CA4413801 |
341 | E>A | No |
ClinGen ExAC gnomAD |
|
rs984806972 CA368719386 |
341 | E>D | No |
ClinGen TOPMed |
|
CA368719437 rs1197188798 |
343 | F>S | No |
ClinGen gnomAD |
|
CA4413804 rs747796427 |
346 | A>P | No |
ClinGen ExAC gnomAD |
|
rs1586740634 CA368719578 |
348 | T>P | No |
ClinGen Ensembl |
|
rs777449211 CA4413806 |
349 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs746321891 CA4413807 |
349 | A>V | No |
ClinGen ExAC gnomAD |
|
CA163452130 rs1048238984 |
350 | L>V | No |
ClinGen TOPMed |
|
CA368719698 rs1316336664 |
353 | V>F | No |
ClinGen TOPMed |
|
CA368719695 rs1316336664 |
353 | V>I | No |
ClinGen TOPMed |
|
CA4413809 rs201003437 |
361 | R>C | No |
ClinGen ExAC gnomAD |
|
rs761091580 CA4413810 |
361 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA368719940 rs1586740671 |
362 | W>C | No |
ClinGen Ensembl |
|
CA368719922 rs1563655923 |
362 | W>R | No |
ClinGen Ensembl |
|
CA4413812 rs776877482 |
363 | S>C | No |
ClinGen ExAC gnomAD |
|
CA4413813 rs762049970 |
363 | S>N | No |
ClinGen ExAC gnomAD |
|
rs1292882254 CA368719986 |
364 | V>M | No |
ClinGen TOPMed |
|
CA368720024 rs1311307667 |
365 | L>V | No |
ClinGen gnomAD |
|
CA368720042 rs1229053504 |
366 | A>T | No |
ClinGen gnomAD |
|
rs888310940 CA163452191 |
366 | A>V | No |
ClinGen gnomAD |
|
rs773290868 CA4413815 |
368 | A>V | No |
ClinGen ExAC gnomAD |
|
rs762809716 CA4413816 |
370 | L>P | No |
ClinGen ExAC gnomAD |
|
rs751501194 CA163452224 |
371 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs751501194 CA4413818 |
371 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
rs751501194 CA4413819 |
371 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs151324218 CA4413817 |
371 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1434119810 CA368720182 |
372 | G>S | No |
ClinGen TOPMed |
|
rs767248735 CA4413820 |
374 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA4413822 rs372063952 |
375 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA4413821 rs752346910 |
375 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
rs777353850 CA4413823 |
376 | L>P | No |
ClinGen ExAC gnomAD |
|
rs780584773 CA4413826 |
378 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs756888389 CA4413825 |
378 | H>Y | No |
ClinGen ExAC gnomAD |
|
rs769022777 CA4413828 |
379 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA4413829 rs376560819 |
380 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
CA4413830 rs376560819 |
380 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs763006469 CA368720449 |
382 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA4413833 rs763006469 |
382 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA4413834 rs766409296 |
383 | F>L | No |
ClinGen ExAC gnomAD |
|
CA4413836 rs759416316 |
386 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA368720566 rs1233043997 |
387 | V>I | No |
ClinGen gnomAD |
|
TCGA novel | 387 | V>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs767286922 CA4413838 |
389 | R>* | No |
ClinGen ExAC gnomAD |
|
CA4413837 rs767286922 |
389 | R>G | No |
ClinGen ExAC gnomAD |
|
rs756042964 CA4413840 |
389 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
COSM1446886 rs756042964 CA4413839 |
389 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
rs199640101 CA4413841 |
390 | A>S | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
rs199640101 CA163452345 |
390 | A>T | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
rs1487394326 CA368720660 |
392 | K>E | No |
ClinGen gnomAD |
|
rs1433534747 CA368720700 CA368720698 |
393 | K>N | No |
ClinGen gnomAD |
|
CA163452362 rs947785313 |
393 | K>R | No |
ClinGen TOPMed gnomAD |
|
rs947785313 CA368720692 |
393 | K>T | No |
ClinGen TOPMed gnomAD |
|
rs1175142418 CA368720706 |
394 | A>P | No |
ClinGen gnomAD |
|
CA368720708 rs1175142418 |
394 | A>S | No |
ClinGen gnomAD |
|
CA368720722 rs1375821269 |
395 | I>F | No |
ClinGen gnomAD |
|
CA368720720 rs1375821269 |
395 | I>V | No |
ClinGen gnomAD |
|
CA368720737 rs1158653902 |
396 | A>T | No |
ClinGen gnomAD |
|
rs1345793699 CA368720846 |
401 | S>N | No |
ClinGen gnomAD |
|
CA4413843 rs778313861 |
402 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs747497615 CA368720890 |
403 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs747497615 CA4413844 |
403 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs201885983 CA368720924 |
404 | H>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs755451370 CA4413845 |
404 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs201914011 CA368720951 CA4413848 |
405 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs535806746 CA4413847 |
405 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
CA368720958 rs1488296900 |
406 | T>A | No |
ClinGen gnomAD |
|
rs1179162564 CA368720991 |
407 | H>Q | No |
ClinGen gnomAD |
|
CA4413849 rs372243462 |
407 | H>R | No |
ClinGen ESP ExAC gnomAD |
|
CA368720975 rs1265004964 |
407 | H>Y | No |
ClinGen TOPMed gnomAD |
|
rs749544550 CA4413850 |
408 | L>F | No |
ClinGen ExAC gnomAD |
|
rs140653534 | 410 | T>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
CA4413877 COSM3698013 rs760721958 |
410 | T>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
CA4413880 rs761459558 |
413 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs762347199 CA4413883 |
416 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs750146673 COSM1214040 CA4413882 |
416 | R>W | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
rs1273729005 CA368721431 |
418 | I>V | No |
ClinGen TOPMed |
|
rs1563656513 CA368721500 |
422 | I>V | No |
ClinGen Ensembl |
|
CA4413887 rs145369828 |
423 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA368721528 rs1341294266 |
424 | V>L | No |
ClinGen gnomAD |
|
CA368721540 rs1276619500 |
425 | P>L | No |
ClinGen TOPMed gnomAD |
|
rs201681487 CA368721536 |
425 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA4413889 rs201681487 |
425 | P>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA4413891 rs757701941 |
427 | Q>L | No |
ClinGen ExAC gnomAD |
|
rs746146294 CA4413893 |
428 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
CA4413896 rs142392925 |
429 | Y>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs772001352 CA4413894 |
429 | Y>C | No |
ClinGen ExAC gnomAD |
|
CA4413897 rs376949005 |
430 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs567061763 CA4413898 |
431 | F>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs1456641260 CA368721658 |
432 | Q>* | No |
ClinGen TOPMed |
|
CA4413899 rs747880474 |
432 | Q>R | No |
ClinGen ExAC gnomAD |
|
CA4413928 rs370005669 |
437 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA368721839 rs765458287 |
438 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
CA4413929 rs765458287 |
438 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA163453681 rs544990990 |
440 | D>E | No |
ClinGen 1000Genomes |
|
rs769341585 CA163453658 |
440 | D>H | No |
ClinGen ExAC gnomAD |
|
CA4413931 rs769341585 |
440 | D>N | No |
ClinGen ExAC gnomAD |
|
rs202106137 CA4413932 |
441 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs377312037 CA4413935 COSM1083504 |
447 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
rs781364822 CA4413936 |
447 | R>H | No |
ClinGen ExAC gnomAD |
|
COSM1214041 rs749067680 CA4413940 |
452 | A>T | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
rs1445956311 CA368722052 |
452 | A>V | No |
ClinGen gnomAD |
|
rs1341724854 CA368722056 |
453 | S>P | No |
ClinGen TOPMed gnomAD |
|
CA368722072 rs1244950835 |
454 | C>R | No |
ClinGen gnomAD |
|
rs778503361 CA4413943 |
455 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs778503361 CA4413942 |
455 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA4413946 rs762163297 |
457 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs770332230 CA4413947 |
458 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA4413948 rs542888497 |
458 | R>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA368722147 rs542888497 |
458 | R>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs372834127 CA163453846 |
459 | L>P | No |
ClinGen ESP TOPMed |
|
rs763389210 CA4413949 |
460 | L>P | No |
ClinGen ExAC gnomAD |
|
CA368722159 rs1366887176 |
461 | A>T | No |
ClinGen gnomAD |
|
CA368722176 rs1464957283 |
462 | G>D | No |
ClinGen gnomAD |
|
CA4413953 rs759851428 |
462 | G>S | No |
ClinGen ExAC gnomAD |
|
CA368722188 rs1484621352 |
463 | C>S | No |
ClinGen TOPMed |
|
CA163453892 rs957285968 |
463 | C>W | No |
ClinGen TOPMed gnomAD |
|
rs1404320320 CA368722191 |
463 | C>Y | No |
ClinGen gnomAD |
|
rs1332961523 CA368722199 |
464 | E>K | No |
ClinGen TOPMed gnomAD |
|
rs374902207 CA4413954 |
465 | G>D | No |
ClinGen ESP ExAC gnomAD |
|
rs1554580139 CA4413958 |
466 | G>S | No |
ClinGen Ensembl |
|
CA4413960 rs756204371 |
468 | C>Y | No |
ClinGen ExAC gnomAD |
|
rs1291804742 CA368722295 |
470 | W>* | No |
ClinGen TOPMed |
|
rs1220853858 CA368722306 |
471 | D>Y | No |
ClinGen TOPMed |
|
CA163453932 CA368722320 rs757003383 |
472 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA4413964 rs757003383 |
472 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
CA368722335 rs201589745 |
473 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA4413966 rs201589745 |
473 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA4413965 rs778697756 |
473 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs1262799064 CA368722351 |
474 | L>P | No |
ClinGen gnomAD |
|
CA4413967 rs771764805 |
474 | L>V | No |
ClinGen ExAC gnomAD |
|
rs1457579540 CA368722353 |
475 | D>H | No |
ClinGen TOPMed |
|
CA368722371 rs1379250292 |
476 | Q>E | No |
ClinGen gnomAD |
|
CA163453968 rs370868394 |
477 | P>S | No |
ClinGen gnomAD |
|
rs370868394 CA368722385 |
477 | P>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
CA4413972 rs763587231 |
478 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
CA4414013 CA368723329 rs772429333 |
481 | R>S | No |
ClinGen ExAC gnomAD |
|
rs774859657 CA4413974 |
481 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
CA4414014 rs775728037 |
482 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1426233871 CA368723346 |
483 | C>R | No |
ClinGen TOPMed gnomAD |
|
rs747185253 CA4414015 |
483 | C>Y | No |
ClinGen ExAC gnomAD |
|
CA368723363 rs1170566528 |
484 | E>K | No |
ClinGen gnomAD |
|
CA368723378 rs1450238014 |
485 | V>M | No |
ClinGen gnomAD |
|
CA368723395 rs1303510765 |
486 | E>V | No |
ClinGen gnomAD |
|
rs527362228 CA163457104 |
488 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
CA4414018 rs527362228 |
488 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1228710770 CA368723457 |
490 | S>C | No |
ClinGen TOPMed |
|
CA368723451 rs1272152174 |
490 | S>P | No |
ClinGen gnomAD |
|
CA163457149 rs879939583 |
491 | E>G | No |
ClinGen TOPMed gnomAD |
|
rs561603036 CA4414020 |
491 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA368723463 rs561603036 |
491 | E>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs376086325 CA368723482 |
492 | G>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
COSM150362 rs1237555697 CA368723475 |
492 | G>C | stomach [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
CA4414021 rs376086325 |
492 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA368723505 rs146629843 |
494 | E>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs146629843 CA4414023 |
494 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs146629843 CA368723504 |
494 | E>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs113220559 CA4414025 |
495 | A>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA4414024 rs113220559 RCV000952539 |
495 | A>S | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA4414026 rs767255596 |
495 | A>V | No |
ClinGen ExAC gnomAD |
|
rs1416657114 CA368723533 |
496 | S>F | No |
ClinGen gnomAD |
|
CA4414027 rs752435769 |
497 | G>A | No |
ClinGen ExAC gnomAD |
|
rs141553698 CA4414029 |
498 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA163457248 rs147046550 |
498 | R>P | No |
ClinGen 1000Genomes ESP TOPMed gnomAD |
|
rs147046550 CA4414030 |
498 | R>Q | No |
ClinGen 1000Genomes ESP TOPMed gnomAD |
|
rs141553698 CA4414028 |
498 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA163457269 rs1056146001 |
499 | R>G | No |
ClinGen Ensembl |
|
CA368723573 rs1300241009 |
499 | R>K | No |
ClinGen gnomAD |
|
rs1341394819 CA368723598 |
500 | V>L | No |
ClinGen gnomAD |
|
CA4414032 rs750880780 |
501 | D>G | No |
ClinGen ExAC gnomAD |
|
CA368723725 rs1269393410 |
504 | A>V | No |
ClinGen gnomAD |
|
rs758830295 CA4414033 |
505 | F>L | No |
ClinGen ExAC gnomAD |
|
rs1220869006 CA368723785 |
506 | V>G | No |
ClinGen gnomAD |
|
CA163457316 rs1005236323 |
507 | N>S | No |
ClinGen TOPMed gnomAD |
|
rs1279316690 CA368723794 |
507 | N>Y | No |
ClinGen gnomAD |
|
CA368723856 rs1198117332 |
509 | D>N | No |
ClinGen TOPMed |
|
rs780681056 CA4414034 |
510 | I>V | No |
ClinGen ExAC gnomAD |
|
CA368723921 rs1240710930 |
511 | V>A | No |
ClinGen gnomAD |
|
CA368723911 COSM1214039 rs1193308240 |
511 | V>M | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
CA368725327 rs1272954186 |
513 | S>F | No |
ClinGen TOPMed gnomAD |
|
rs775794017 CA163459045 |
514 | K>R | No |
ClinGen Ensembl |
|
rs1201059781 CA368725343 |
515 | G>E | No |
ClinGen gnomAD |
|
rs993526415 CA163459071 COSM1446889 |
516 | S>R | large_intestine [Cosmic] | No |
ClinGen cosmic curated Ensembl |
CA163459101 rs947710319 |
517 | G>S | No |
ClinGen TOPMed gnomAD |
|
CA368725403 rs1314946718 |
519 | G>A | No |
ClinGen TOPMed |
|
rs367887639 CA4414055 |
520 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs367887639 CA368725406 |
520 | T>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1209573737 CA368725428 |
521 | I>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
TCGA novel | 522 | C>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1390263579 CA368725459 |
523 | L>P | No |
ClinGen gnomAD |
|
CA368725465 rs1341822566 |
524 | W>* | No |
ClinGen TOPMed gnomAD |
|
CA368725523 rs1292360770 |
527 | R>G | No |
ClinGen gnomAD |
|
rs1333123359 CA368725533 |
527 | R>K | No |
ClinGen gnomAD |
|
rs1220891433 CA368725544 |
528 | Q>* | No |
ClinGen gnomAD |
|
rs1220891433 CA368725547 |
528 | Q>E | No |
ClinGen gnomAD |
|
CA4414058 rs368086160 |
529 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
rs774114154 CA368725584 |
530 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
CA368725588 rs200423098 |
530 | W>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA4414064 CA163459164 rs200423098 |
530 | W>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs539175596 CA4414061 |
530 | W>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs774114154 CA4414063 |
530 | W>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA368725574 rs539175596 |
530 | W>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs774114154 CA4414062 |
530 | W>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA368725606 rs1443133003 |
531 | G>E | No |
ClinGen gnomAD |
|
rs775426091 CA4414065 CA4414066 |
531 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs775426091 CA368725599 |
531 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
CA368725616 rs776399003 |
532 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1474080229 CA368725619 |
532 | G>D | No |
ClinGen gnomAD |
|
CA368725614 rs776399003 |
532 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA4414068 rs776399003 |
532 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1474080229 CA368725623 |
532 | G>V | No |
ClinGen gnomAD |
|
CA4414071 rs557391679 |
533 | R>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs557391679 CA4414070 |
533 | R>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs761200453 CA4414069 |
533 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
rs767803214 CA4414073 |
534 | G>A | No |
ClinGen ExAC gnomAD |
|
rs767803214 CA368725650 |
534 | G>D | No |
ClinGen ExAC gnomAD |
|
rs755491507 CA4414072 |
534 | G>S | No |
ClinGen ExAC gnomAD |
|
rs753056744 CA4414074 |
535 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
CA4414076 rs756549538 |
535 | S>R | No |
ClinGen ExAC gnomAD |
|
CA4414078 rs757234013 |
536 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA4414077 rs749553364 |
536 | Q>K | No |
ClinGen ExAC |
|
CA368725703 rs1279251513 |
537 | S>C | No |
ClinGen TOPMed gnomAD |
|
CA368725705 rs1279251513 |
537 | S>F | No |
ClinGen TOPMed gnomAD |
|
CA4414080 rs145790713 |
538 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs775622533 CA4414082 |
541 | V>G | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 542 | V>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1210292387 CA368725764 |
542 | V>M | No |
ClinGen gnomAD |
|
rs1563658939 CA368725781 |
543 | V>I | No |
ClinGen Ensembl |
|
CA4414084 rs372186219 |
545 | A>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA4414085 rs372186219 |
545 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA4414088 rs202055278 |
546 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA4414087 rs764596350 |
546 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
CA368725853 rs1431259829 |
548 | Q>* | No |
ClinGen TOPMed |
|
rs1391164231 CA368725857 |
548 | Q>R | No |
ClinGen TOPMed |
|
rs1172504434 CA368725864 |
549 | W>* | No |
ClinGen gnomAD |
|
CA163459372 rs375511324 |
549 | W>C | No |
ClinGen ESP |
|
CA4414090 rs554936253 |
550 | S>L | Variant assessed as Somatic; 5.328e-05 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
CA368725873 rs554936253 |
550 | S>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA4414093 rs764540681 |
552 | T>A | No |
ClinGen ExAC gnomAD |
|
rs757503363 CA4414095 |
553 | E>K | No |
ClinGen ExAC gnomAD |
|
CA368725899 rs1356027610 |
555 | A>P | No |
ClinGen gnomAD |
|
CA368725901 rs1356027610 |
555 | A>T | No |
ClinGen gnomAD |
|
CA368725920 rs1260413561 |
557 | F>L | No |
ClinGen gnomAD |
|
CA4414099 rs150762600 |
558 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA4414098 rs758603982 |
558 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
CA368725924 rs150762600 |
558 | S>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA4414105 rs747690267 |
561 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
rs747690267 CA4414104 |
561 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA163459468 rs924972310 |
562 | C>Y | No |
ClinGen TOPMed gnomAD |
|
CA4414108 rs770459556 |
563 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
CA368725951 rs770459556 |
563 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1428783000 CA368725972 |
564 | D>E | No |
ClinGen gnomAD |
|
CA4414148 rs748871732 |
565 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
rs569362171 CA4414150 |
566 | G>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs142410118 CA4414149 |
566 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA368725987 rs1413873679 |
567 | I>F | No |
ClinGen gnomAD |
|
TCGA novel | 567 | I>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA4414152 rs771519188 |
567 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA368725999 rs1215075507 |
569 | L>F | No |
ClinGen gnomAD |
|
TCGA novel | 569 | L>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA4414154 rs201275039 |
569 | L>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs557927414 CA4414156 |
570 | C>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA163459770 rs145973282 |
570 | C>R | No |
ClinGen ESP TOPMed gnomAD |
|
CA4414158 rs773720792 |
572 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
CA4414157 rs773720792 |
572 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
CA368726020 rs1563659273 |
573 | E>K | No |
ClinGen Ensembl |
|
rs1265792257 CA368726028 |
574 | E>K | No |
ClinGen gnomAD |
|
CA368726039 rs766694949 |
575 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
CA4414161 rs766694949 |
575 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA4414162 rs774487177 |
576 | N>D | No |
ClinGen ExAC gnomAD |
|
CA368726048 rs143165955 COSM1622141 |
577 | V>L | liver [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
rs143165955 CA4414163 |
577 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs752620718 CA4414165 |
578 | W>* | No |
ClinGen ExAC gnomAD |
|
CA368726056 rs1375002144 |
578 | W>* | No |
ClinGen gnomAD |
|
CA368726063 rs1300343517 |
579 | L>F | No |
ClinGen gnomAD |
|
CA4414168 rs144458335 |
580 | Y>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs10249943 CA4414172 |
581 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA4414170 rs757089708 |
581 | D>G | No |
ClinGen ExAC gnomAD |
|
CA4414169 rs753613507 |
581 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
rs767161528 CA4414174 |
582 | V>F | No |
ClinGen ExAC gnomAD |
|
CA4414173 rs767161528 COSM1330210 |
582 | V>I | ovary Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
CA4414175 rs748602816 |
583 | S>R | No |
ClinGen ExAC gnomAD |
|
rs770420634 CA4414176 |
585 | I>M | No |
ClinGen ExAC gnomAD |
|
rs774107879 CA163459911 |
585 | I>V | No |
ClinGen Ensembl |
|
rs1452325826 CA368726105 |
586 | L>Q | No |
ClinGen TOPMed |
|
CA4414177 rs773914956 |
589 | P>L | No |
ClinGen ExAC gnomAD |
|
CA368726126 rs1489755477 |
589 | P>S | No |
ClinGen gnomAD |
|
rs771241277 CA4414179 |
590 | P>R | No |
ClinGen ExAC gnomAD |
|
rs749651123 CA4414178 |
590 | P>S | No |
ClinGen ExAC gnomAD |
|
CA4414180 rs537769035 |
592 | L>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs148981077 CA4414183 |
593 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA4414182 rs201290252 |
593 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs201290252 CA4414181 |
593 | P>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA368726160 rs1586745957 |
596 | L>P | No |
ClinGen Ensembl |
|
rs1369310153 CA368726166 |
597 | Q>R | No |
ClinGen TOPMed |
|
CA4414189 rs757003570 |
598 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
CA368726170 rs1563659434 |
598 | A>T | No |
ClinGen Ensembl |
|
CA368726174 rs757003570 |
598 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA4414191 rs750036357 |
600 | T>A | No |
ClinGen ExAC gnomAD |
|
CA368726184 rs757995965 |
600 | T>I | No |
ClinGen ExAC gnomAD |
|
CA4414192 rs757995965 |
600 | T>K | No |
ClinGen ExAC gnomAD |
|
CA368726189 rs1190354754 |
601 | Q>R | No |
ClinGen TOPMed |
|
rs144678334 CA368726211 |
603 | L>M | No |
ClinGen ESP ExAC gnomAD |
|
rs144678334 CA4414238 |
603 | L>V | No |
ClinGen ESP ExAC gnomAD |
|
CA368726224 rs1586746300 |
605 | W>R | No |
ClinGen Ensembl |
|
CA4414241 rs147900518 |
607 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA830703567 rs1253473823 |
609 | W>* | No |
ClinGen TOPMed |
|
CA4414243 rs780413395 |
609 | W>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA368726254 rs1586746322 |
609 | W>L | No |
ClinGen Ensembl |
|
rs758639657 CA4414242 |
609 | W>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA163460422 rs916318558 |
610 | A>S | No |
ClinGen TOPMed gnomAD |
|
rs200710432 CA4414244 |
610 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs755193043 CA4414245 |
611 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
CA368726267 rs1247956420 |
612 | G>S | No |
ClinGen gnomAD |
|
CA368726275 rs1311955066 |
613 | Q>* | No |
ClinGen gnomAD |
|
CA4414246 rs781455530 |
613 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs369747780 CA4414247 |
614 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs979096454 CA163460435 |
617 | K>N | No |
ClinGen TOPMed |
|
TCGA novel | 618 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA4414253 rs549030610 |
619 | M>T | No |
ClinGen 1000Genomes ExAC TOPMed |
|
rs759460734 CA4414254 |
620 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs767255967 CA4414256 |
621 | N>T | No |
ClinGen ExAC gnomAD |
|
CA368726335 rs1415293052 |
622 | T>I | No |
ClinGen gnomAD |
|
rs1446362200 CA368726339 |
623 | V>A | No |
ClinGen gnomAD |
|
rs775244670 CA4414257 |
623 | V>L | No |
ClinGen ExAC gnomAD |
|
CA4414258 rs191022008 |
624 | V>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs763680178 CA4414259 |
625 | A>S | No |
ClinGen ExAC gnomAD |
|
rs763680178 CA4414260 |
625 | A>T | No |
ClinGen ExAC gnomAD |
|
rs758912423 CA4414262 |
626 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
CA4414261 rs758912423 |
626 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA4414264 rs755389275 |
628 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
CA4414265 rs781361448 |
628 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
rs748433864 CA4414266 |
629 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs756100065 CA4414267 |
630 | T>I | No |
ClinGen ExAC gnomAD |
|
CA368726379 rs1586746447 |
631 | Y>H | No |
ClinGen Ensembl |
|
CA368726388 rs1371776557 |
632 | L>F | No |
ClinGen gnomAD |
|
rs889192109 CA163460634 |
634 | A>D | No |
ClinGen TOPMed |
|
rs150396748 CA4414271 COSM199901 |
634 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
CA163460658 rs745627593 |
635 | L>P | No |
ClinGen ExAC |
|
CA4414272 rs745627593 |
635 | L>Q | No |
ClinGen ExAC |
|
CA368726403 rs1240839730 |
635 | L>V | No |
ClinGen gnomAD |
|
rs772019011 CA4414273 |
636 | T>M | No |
ClinGen ExAC gnomAD |
|
rs760386246 CA4414275 |
638 | S>A | No |
ClinGen ExAC gnomAD |
|
CA4414276 rs763448049 |
638 | S>Y | No |
ClinGen ExAC gnomAD |
|
CA368726422 rs1192494910 |
639 | N>H | No |
ClinGen gnomAD |
|
rs761375055 CA4414278 |
639 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs767947918 CA4414282 |
641 | V>A | No |
ClinGen ExAC gnomAD |
|
CA4414281 rs376230863 |
641 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
TCGA novel | 642 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA368726450 rs1307885949 |
643 | I>T | No |
ClinGen TOPMed |
|
CA368726459 rs1291863826 |
644 | W>* | No |
ClinGen gnomAD |
|
rs1586746538 CA368726455 |
644 | W>R | No |
ClinGen Ensembl |
|
rs756353133 CA4414286 |
645 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1392167880 CA368726469 |
646 | R>K | No |
ClinGen gnomAD |
|
CA368726470 rs1392167880 |
646 | R>T | No |
ClinGen gnomAD |
|
rs1277527121 CA368726480 |
647 | M>I | No |
ClinGen TOPMed |
|
rs757453164 CA4414290 |
648 | M>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA368726489 rs148895778 |
648 | M>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
No associated diseases with Q9UFC0
7 regional properties for Q9UFC0
Type | Name | Position | InterPro Accession |
---|---|---|---|
repeat | Leucine-rich repeat | 48 - 69 | IPR001611 |
repeat | WD40 repeat | 272 - 325 | IPR001680-1 |
repeat | WD40 repeat | 381 - 422 | IPR001680-2 |
repeat | WD40 repeat | 540 - 581 | IPR001680-3 |
repeat | Leucine-rich repeat, typical subtype | 46 - 69 | IPR003591 |
conserved_site | WD40 repeat, conserved site | 408 - 422 | IPR019775 |
repeat | Leucine rich repeat 4 | 47 - 87 | IPR025875 |
Functions
10 GO annotations of cellular component
Name | Definition |
---|---|
chromosome, telomeric region | The end of a linear chromosome, required for the integrity and maintenance of the end. A chromosome telomere usually includes a region of telomerase-encoded repeats the length of which rarely exceeds 20 bp each and that permits the formation of a telomeric loop (T-loop). The telomeric repeat region is usually preceded by a sub-telomeric region that is gene-poor but rich in repetitive elements. Some telomeres only consist of the latter part (for eg. D. melanogaster telomeres). |
cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
intracellular membrane-bounded organelle | Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane. |
kinetochore | A multisubunit complex that is located at the centromeric region of DNA and provides an attachment point for the spindle microtubules. |
microtubule organizing center | An intracellular structure that can catalyze gamma-tubulin-dependent microtubule nucleation and that can anchor microtubules by interacting with their minus ends, plus ends or sides. |
nuclear origin of replication recognition complex | A multisubunit complex that is located at the replication origins of a chromosome in the nucleus. |
nucleolus | A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome. |
nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
pericentric heterochromatin | Heterochromatin that is located adjacent to the CENP-A rich centromere 'central core' and characterized by methylated H3 histone at lysine 9 (H3K9me2/H3K9me3). |
3 GO annotations of molecular function
Name | Definition |
---|---|
chromatin binding | Binding to chromatin, the network of fibers of DNA, protein, and sometimes RNA, that make up the chromosomes of the eukaryotic nucleus during interphase. |
methyl-CpG binding | Binding to a methylated cytosine/guanine dinucleotide. |
methylated histone binding | Binding to a histone in which a residue has been modified by methylation. |
3 GO annotations of biological process
Name | Definition |
---|---|
chromatin organization | The assembly or remodeling of chromatin composed of DNA complexed with histones, other associated proteins, and sometimes RNA. |
DNA replication initiation | The process in which DNA-dependent DNA replication is started; this begins with the ATP dependent loading of an initiator complex onto the DNA, this is followed by DNA melting and helicase activity. In bacteria, the gene products that enable the helicase activity are loaded after the initial melting and in archaea and eukaryotes, the gene products that enable the helicase activity are inactive when they are loaded and subsequently activate. |
establishment of protein localization to chromatin | The directed movement of a protein to a part of a chromosome that is organized into chromatin. |
36 homologous proteins in AiPD
UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
---|---|---|---|---|
Q3MHH9 | ECM2 | Extracellular matrix protein 2 | Bos taurus (Bovine) | PR |
P58874 | OPTC | Opticin | Bos taurus (Bovine) | PR |
Q24K06 | LRRC10 | Leucine-rich repeat-containing protein 10 | Bos taurus (Bovine) | PR |
Q9V780 | Lap1 | Protein lap1 | Drosophila melanogaster (Fruit fly) | PR |
Q96NW7 | LRRC7 | Leucine-rich repeat-containing protein 7 | Homo sapiens (Human) | PR |
Q8IWT6 | LRRC8A | Volume-regulated anion channel subunit LRRC8A | Homo sapiens (Human) | PR |
Q9HCJ2 | LRRC4C | Leucine-rich repeat-containing protein 4C | Homo sapiens (Human) | PR |
Q96L50 | LRR1 | Leucine-rich repeat protein 1 | Homo sapiens (Human) | PR |
Q86UN2 | RTN4RL1 | Reticulon-4 receptor-like 1 | Homo sapiens (Human) | PR |
Q8IWK6 | ADGRA3 | Adhesion G protein-coupled receptor A3 | Homo sapiens (Human) | PR |
Q7L1W4 | LRRC8D | Volume-regulated anion channel subunit LRRC8D | Homo sapiens (Human) | PR |
Q96FE5 | LINGO1 | Leucine-rich repeat and immunoglobulin-like domain-containing nogo receptor-interacting protein 1 | Homo sapiens (Human) | PR |
Q8TDW0 | LRRC8C | Volume-regulated anion channel subunit LRRC8C | Homo sapiens (Human) | PR |
Q38SD2 | LRRK1 | Leucine-rich repeat serine/threonine-protein kinase 1 | Homo sapiens (Human) | EV |
A6H694 | Lrrc63 | Leucine-rich repeat-containing protein 63 | Mus musculus (Mouse) | PR |
Q9D9Q0 | Lrrc69 | Leucine-rich repeat-containing protein 69 | Mus musculus (Mouse) | PR |
Q8BGI7 | Lrrc39 | Leucine-rich repeat-containing protein 39 | Mus musculus (Mouse) | PR |
Q7TT36 | Adgra3 | Adhesion G protein-coupled receptor A3 | Mus musculus (Mouse) | PR |
P59383 | Lrrn4 | Leucine-rich repeat neuronal protein 4 | Mus musculus (Mouse) | PR |
Q9D1T0 | Lingo1 | Leucine-rich repeat and immunoglobulin-like domain-containing nogo receptor-interacting protein 1 | Mus musculus (Mouse) | PR |
Q8R502 | Lrrc8c | Volume-regulated anion channel subunit LRRC8C | Mus musculus (Mouse) | PR |
Q80WG5 | Lrrc8a | Volume-regulated anion channel subunit LRRC8A | Mus musculus (Mouse) | PR |
Q8K0S5 | Rtn4rl1 | Reticulon-4 receptor-like 1 | Mus musculus (Mouse) | PR |
Q80TE7 | Lrrc7 | Leucine-rich repeat-containing protein 7 | Mus musculus (Mouse) | PR |
Q5DU41 | Lrrc8b | Volume-regulated anion channel subunit LRRC8B | Mus musculus (Mouse) | PR |
Q5RKR3 | Islr2 | Immunoglobulin superfamily containing leucine-rich repeat protein 2 | Mus musculus (Mouse) | PR |
Q8C031 | Lrrc4c | Leucine-rich repeat-containing protein 4C | Mus musculus (Mouse) | PR |
P70587 | Lrrc7 | Leucine-rich repeat-containing protein 7 | Rattus norvegicus (Rat) | PR |
Q4V8G0 | Lrrc63 | Leucine-rich repeat-containing protein 63 | Rattus norvegicus (Rat) | PR |
Q80WD0 | Rtn4rl1 | Reticulon-4 receptor-like 1 | Rattus norvegicus (Rat) | PR |
Q9TZM3 | lrk-1 | Leucine-rich repeat serine/threonine-protein kinase 1 | Caenorhabditis elegans | SS |
Q9SHI4 | RLP3 | Receptor-like protein 3 | Arabidopsis thaliana (Mouse-ear cress) | SS |
Q5G5E0 | PIRL5 | Plant intracellular Ras-group-related LRR protein 5 | Arabidopsis thaliana (Mouse-ear cress) | PR |
Q68F79 | lrrc8e | Volume-regulated anion channel subunit LRRC8E | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | PR |
B0JZ65 | lrwd1 | Leucine-rich repeat and WD repeat-containing protein 1 | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | PR |
B0R160 | lrwd1 | Leucine-rich repeat and WD repeat-containing protein 1 | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
10 | 20 | 30 | 40 | 50 | 60 |
MGPLSARLLM | QRGRPKSDRL | GKIRSLDLSG | LELLSEHLDP | KLLCRLTQLQ | ELDLSNNHLE |
70 | 80 | 90 | 100 | 110 | 120 |
TLPDNLGLSH | LRVLRCANNQ | LGDVTALCQF | PKLEELSLEG | NPFLTVNDNL | KVSFLLPTLR |
130 | 140 | 150 | 160 | 170 | 180 |
KVNGKDASST | YSQVENLNRE | LTSRVTAHWE | KFMATLGPEE | EAEKAQADFV | KSAVRDVRYG |
190 | 200 | 210 | 220 | 230 | 240 |
PESLSEFTQW | RVRMISEELV | AASRTQVQKA | NSPEKPPEAG | AAHKPRARLA | ALKRPDDVPL |
250 | 260 | 270 | 280 | 290 | 300 |
SLSPSKRACA | SPSAQVEGSP | VAGSDGSQPA | VKLEPLHFLQ | CHSKNNSPQD | LETQLWACAF |
310 | 320 | 330 | 340 | 350 | 360 |
EPAWEEGATS | QTVATCGGEA | VCVIDCQTGI | VLHKYKAPGE | EFFSVAWTAL | MVVTQAGHKK |
370 | 380 | 390 | 400 | 410 | 420 |
RWSVLAAAGL | RGLVRLLHVR | AGFCCGVIRA | HKKAIATLCF | SPAHETHLFT | ASYDKRIILW |
430 | 440 | 450 | 460 | 470 | 480 |
DIGVPNQDYE | FQASQLLTLD | TTSIPLRLCP | VASCPDARLL | AGCEGGCCCW | DVRLDQPQKR |
490 | 500 | 510 | 520 | 530 | 540 |
RVCEVEFVFS | EGSEASGRRV | DGLAFVNEDI | VASKGSGLGT | ICLWSWRQTW | GGRGSQSTVA |
550 | 560 | 570 | 580 | 590 | 600 |
VVVLARLQWS | STELAYFSLS | ACPDKGIVLC | GDEEGNVWLY | DVSNILKQPP | LLPAALQAPT |
610 | 620 | 630 | 640 | ||
QILKWPQPWA | LGQVVTKTMV | NTVVANASFT | YLTALTDSNI | VAIWGRM |