Q8TD90
PR
Gene name |
MAGEE2 (HCA3) |
Protein name |
Melanoma-associated antigen E2 |
Names |
Hepatocellular carcinoma-associated protein 3, MAGE-E2 antigen |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:139599 |
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 Q8TD90
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q8TD90-F1 | Predicted | AlphaFoldDB |
453 variants for Q8TD90
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs942292399 CA331401799 |
3 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA10456677 rs761781381 |
5 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA413687215 rs1449563243 |
9 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 10 | H>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA331401798 rs955599105 |
11 | C>G | No |
ClinGen TOPMed gnomAD |
|
|
CA10456675 rs768245539 |
12 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747754758 CA10456674 |
13 | A>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs747754758 CA10456673 |
13 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA331401797 rs373465322 |
18 | D>G | No |
ClinGen ESP |
|
|
rs747332819 CA10456671 |
18 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs778404110 CA413687148 |
19 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA413687152 rs1275561009 |
19 | Y>H | No |
ClinGen gnomAD |
|
|
rs758920405 CA413687146 |
20 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758920405 CA10456669 |
20 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1284261484 CA413687140 |
21 | D>H | No |
ClinGen gnomAD |
|
|
rs778985990 CA10456667 |
22 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA331401796 rs999191089 |
22 | G>S | No |
ClinGen TOPMed |
|
|
rs755027690 CA10456666 |
23 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA413687128 rs1369782169 |
23 | R>K | No |
ClinGen gnomAD |
|
|
rs754129141 CA10456665 |
24 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766503730 CA10456664 |
24 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs754129141 CA413687123 |
24 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10456662 rs760574333 |
27 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs750196049 CA10456661 |
28 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA331401795 rs149685382 |
28 | A>V | No |
ClinGen ESP |
|
|
rs761869322 CA10456660 |
30 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1413722342 CA413687084 |
30 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA413687077 rs774387133 |
31 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA413687080 rs1472054555 |
31 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs774387133 CA10456658 |
31 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA413687070 rs1187392122 |
32 | S>F | No |
ClinGen TOPMed |
|
|
CA331401794 rs1011885885 |
33 | G>R | No |
ClinGen TOPMed |
|
|
CA413687055 rs1279901486 |
35 | P>H | No |
ClinGen gnomAD |
|
|
rs1444688012 CA413687056 |
35 | P>S | No |
ClinGen gnomAD |
|
|
CA10456657 rs768335330 |
36 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs769319854 CA10456654 |
38 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs762523637 CA10456656 |
38 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10456655 rs775282179 |
38 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA10456653 rs139464739 |
40 | V>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA413687028 rs1322768130 |
40 | V>F | No |
ClinGen gnomAD |
|
|
rs186007802 CA10456652 |
41 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1333353316 CA413687009 |
43 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs772386710 CA10456651 |
44 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs61732441 CA10456650 |
45 | Q>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1159257962 | 45 | Q>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10456647 rs749311713 |
46 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749311713 CA10456648 |
46 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1175875471 CA413686982 |
48 | Q>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs780120980 CA10456646 |
49 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10456645 rs756290423 |
49 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs750615534 CA10456644 |
50 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA10456643 rs767446094 |
51 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA331401793 rs767446094 |
51 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA413686954 rs1270136470 |
52 | N>K | No |
ClinGen gnomAD |
|
|
rs1341913848 CA413686956 |
52 | N>S | No |
ClinGen TOPMed |
|
|
CA10456642 rs757100252 |
53 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751590110 CA10456641 |
54 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs143985538 CA331401792 |
55 | C>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1229825689 CA413686915 |
58 | T>S | No |
ClinGen gnomAD |
|
|
CA10456640 rs140206798 |
59 | S>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs146147161 CA10456639 |
60 | Q>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed |
|
|
CA10456638 rs774877536 |
61 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1047598873 CA331401788 |
62 | V>D | No |
ClinGen TOPMed |
|
|
rs142989384 CA331401789 |
62 | V>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed gnomAD |
|
rs142989384 CA331401790 |
62 | V>I | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs142989384 CA413686896 |
62 | V>L | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA413686891 rs1241822276 |
63 | Q>* | No |
ClinGen gnomAD |
|
|
CA10456636 rs759144063 |
64 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs139659113 COSM382623 CA413686875 |
65 | P>L | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs139659113 CA10456635 |
65 | P>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs139659113 CA10456634 |
65 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs748505707 CA10456633 |
67 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA413686859 rs774894886 COSM1315695 |
68 | L>M | urinary_tract [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA413686828 rs1415059199 |
73 | D>H | No |
ClinGen gnomAD |
|
|
CA413686827 COSM236153 rs1415059199 |
73 | D>Y | kidney Variant assessed as Somatic; 0.0 impact. autonomic_ganglia [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs199826807 CA10456629 |
74 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs199826807 CA413686820 |
74 | E>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs149363892 CA10456628 |
76 | S>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs781538202 CA10456626 |
78 | R>C | No |
ClinGen ExAC |
|
|
rs1220163818 CA413686782 |
79 | L>F | No |
ClinGen TOPMed |
|
|
CA413686778 rs1362779534 |
80 | G>A | No |
ClinGen gnomAD |
|
|
CA413686781 rs200420972 CA10456625 |
80 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 81 | A>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA413686759 rs1224133180 |
83 | R>S | No |
ClinGen gnomAD |
|
|
rs752641035 CA10456621 |
84 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA10456622 rs752641035 |
84 | V>D | No |
ClinGen ExAC gnomAD |
|
|
rs763925188 CA10456623 |
84 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763925188 CA413686757 |
84 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1243474651 CA413686748 |
85 | H>Q | No |
ClinGen gnomAD |
|
|
rs1344261096 CA413686740 |
86 | D>E | No |
ClinGen gnomAD |
|
|
CA413686732 rs1489299738 |
88 | L>I | No |
ClinGen TOPMed |
|
|
CA413686715 rs1298197105 |
90 | D>G | No |
ClinGen gnomAD |
|
|
CA413686689 rs1359321602 |
94 | A>S | No |
ClinGen gnomAD |
|
|
CA10456619 rs370056993 |
98 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10456620 rs764675969 |
98 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA413686658 rs1348916755 |
99 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
CA413686657 rs1348916755 |
99 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA10456618 rs753553372 |
100 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1453669105 CA413686637 |
101 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA10456617 rs375685152 |
101 | M>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1392571807 CA413686620 |
103 | S>R | No |
ClinGen gnomAD |
|
|
COSM249033 rs774700498 CA10456615 |
105 | T>M | Variant assessed as Somatic; 0.0 impact. pancreas large_intestine breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA10456613 rs138726496 |
107 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10456612 rs776046588 |
108 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA331401786 rs770889934 |
113 | E>D | No |
ClinGen TOPMed |
|
|
CA10456610 rs373571440 |
116 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10456609 rs781624242 |
116 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs1219253692 CA413686532 |
117 | F>I | No |
ClinGen gnomAD |
|
|
CA10456606 rs1343879 |
120 | E>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10456607 rs1343879 |
120 | E>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs752616233 CA10456604 |
123 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs758164214 CA10456605 |
123 | D>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 125 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs866032674 CA331401785 |
126 | P>S | No |
ClinGen Ensembl |
|
|
rs1310592310 CA413686458 |
127 | E>D | No |
ClinGen TOPMed |
|
|
rs753359432 CA10456602 |
131 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs753359432 CA10456601 |
131 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs765806534 CA10456600 |
131 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1390242563 CA413686432 |
132 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1390242563 CA413686433 |
132 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA413686424 rs1283673206 |
133 | S>* | No |
ClinGen TOPMed |
|
|
CA413686427 rs1222133726 |
133 | S>P | No |
ClinGen TOPMed |
|
|
CA331401783 rs866379547 |
134 | A>T | No |
ClinGen Ensembl |
|
|
rs760349174 CA10456599 |
135 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs750024518 CA10456598 |
139 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs12392546 CA413686355 |
144 | L>M | No |
ClinGen gnomAD |
|
|
rs1473690853 CA413686352 |
144 | L>P | No |
ClinGen gnomAD |
|
|
rs764412419 CA10456597 |
146 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA10456595 rs763349256 |
147 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs777715056 CA331401779 |
148 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA10456594 rs143829521 |
151 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1179089922 CA413686293 |
153 | T>I | No |
ClinGen TOPMed |
|
|
CA413686280 rs1157413652 |
155 | N>S | No |
ClinGen TOPMed |
|
|
rs770323852 CA10456593 |
158 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1022023157 CA331401777 |
158 | S>R | No |
ClinGen TOPMed |
|
|
rs776856584 CA10456591 |
160 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA413686248 rs776856584 |
160 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760065979 CA10456592 |
160 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA413686244 rs1461249317 |
161 | G>C | No |
ClinGen TOPMed |
|
|
CA413686246 rs1461249317 |
161 | G>S | No |
ClinGen TOPMed |
|
|
CA413686241 rs1391135924 |
161 | G>V | No |
ClinGen gnomAD |
|
|
CA413686221 rs1337994057 |
164 | I>T | No |
ClinGen TOPMed |
|
|
CA10456588 rs778034521 |
166 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1405521136 CA413686202 |
167 | R>K | No |
ClinGen gnomAD |
|
| TCGA novel | 167 | R>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1236300557 CA413686197 |
168 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA331401775 rs138220717 |
169 | A>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1174324223 CA413686190 |
169 | A>T | No |
ClinGen gnomAD |
|
|
rs138220717 CA10456587 |
169 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10456585 rs147001440 |
170 | E>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10456583 rs141357882 |
170 | E>D | No |
ClinGen ESP ExAC gnomAD |
|
|
CA10456584 rs147001440 |
170 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs779558072 CA10456582 |
173 | D>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1258199084 CA413686153 |
175 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs755595332 CA10456581 |
177 | A>T | No |
ClinGen ExAC |
|
|
rs1238031529 CA413686137 |
177 | A>V | No |
ClinGen TOPMed |
|
|
CA413686135 rs1473476416 |
178 | S>R | No |
ClinGen TOPMed |
|
|
rs1182434087 CA413686129 |
178 | S>R | No |
ClinGen gnomAD |
|
|
CA10456579 rs376903192 |
183 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA413686090 rs1267057894 |
185 | G>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1329463408 CA413686095 |
185 | G>S | No |
ClinGen gnomAD |
|
|
rs1465832934 CA413686087 |
186 | H>Y | No |
ClinGen TOPMed |
|
|
CA413686073 rs201684443 |
188 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10456577 rs201684443 |
188 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10456575 rs765454276 |
190 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
rs760153859 COSM304369 CA10456574 |
193 | R>* | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs771953470 CA10456573 |
193 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 196 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1569454754 CA413686017 |
197 | A>T | No |
ClinGen Ensembl |
|
|
rs766615255 CA10456572 |
197 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA10456570 rs773363908 |
200 | W>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 200 | W>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM673994 rs201501360 CA413685985 |
201 | D>E | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs1451878404 CA413685990 |
201 | D>H | No |
ClinGen gnomAD |
|
|
rs1165179422 CA413685979 |
202 | L>W | No |
ClinGen gnomAD |
|
|
CA413685957 rs1189978108 |
206 | V>L | No |
ClinGen gnomAD |
|
|
rs1464906395 CA413685951 |
207 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1464906395 CA413685950 |
207 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA413685931 rs1219510828 |
209 | W>S | No |
ClinGen TOPMed |
|
| TCGA novel | 210 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1271664515 CA413685906 |
212 | P>L | No |
ClinGen TOPMed |
|
|
rs774229610 CA10456566 |
212 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA413685895 rs1569454736 |
214 | R>K | No |
ClinGen Ensembl |
|
|
CA413685866 rs1203075112 |
218 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs202016493 CA10456565 |
220 | G>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs202016493 CA413685849 |
220 | G>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 220 | G>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA413685836 rs1359391180 |
222 | T>R | No |
ClinGen gnomAD |
|
|
CA413685832 rs1603109334 |
223 | R>K | No |
ClinGen Ensembl |
|
|
rs749268964 CA331401772 |
224 | N>I | No |
ClinGen ExAC gnomAD |
|
|
rs769823078 CA10456563 |
224 | N>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs749268964 CA10456564 |
224 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA413685808 rs1256204154 |
227 | T>S | No |
ClinGen TOPMed |
|
|
CA10456561 rs748005266 |
228 | T>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA413685798 rs1195365011 |
229 | D>N | No |
ClinGen TOPMed |
|
| rs750349188 | 230 | F>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 230 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10456558 rs143084438 |
231 | V>L | No |
ClinGen ESP ExAC TOPMed |
|
|
CA10456560 rs143084438 |
231 | V>M | No |
ClinGen ESP ExAC TOPMed |
|
|
CA413685776 rs756942637 |
232 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs756942637 CA10456557 |
232 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs368595966 CA10456556 |
234 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA413685762 rs765658489 |
234 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10456555 COSM1125336 rs765658489 |
234 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs755372198 CA10456554 |
235 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 238 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10456552 rs768233465 |
240 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA413685714 rs1452990054 CA413685715 |
241 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA413685716 rs1452990054 |
241 | V>M | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 242 | Y>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1006183717 CA331401770 |
242 | Y>S | No |
ClinGen TOPMed gnomAD |
|
|
CA10456549 rs767452893 |
243 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA413685683 rs1340673154 |
246 | P>T | No |
ClinGen gnomAD |
|
| TCGA novel | 249 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs768476320 CA10456546 |
249 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 251 | F>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA413685631 rs1404130292 |
253 | W>* | No |
ClinGen gnomAD |
|
|
CA331401768 rs866664899 |
253 | W>* | No |
ClinGen Ensembl |
|
|
CA413685622 rs1488311952 |
254 | G>D | No |
ClinGen TOPMed |
|
|
CA413685626 rs1363533755 |
254 | G>S | No |
ClinGen gnomAD |
|
|
CA10456544 COSM458058 rs775467404 |
256 | R>T | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs745729102 CA10456542 |
258 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745729102 CA413685601 |
258 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1165657235 CA413685595 |
259 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs267606512 CA331401766 |
260 | E>K | No |
ClinGen TOPMed |
|
|
CA10456541 rs200633627 |
262 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM1176800 CA10456539 rs746726747 |
263 | K>N | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs368765811 CA10456538 |
264 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs61732440 CA10456537 |
265 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1267293021 CA413685529 |
268 | K>N | No |
ClinGen gnomAD |
|
|
rs1395055246 CA413685462 |
278 | P>A | No |
ClinGen TOPMed |
|
|
rs780499777 CA10456535 |
278 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
TCGA novel CA10456534 rs756674679 |
279 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC TOPMed gnomAD NCI-TCGA |
|
CA413685449 rs1382993742 |
280 | S>C | No |
ClinGen TOPMed |
|
|
rs750842598 CA10456533 |
280 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs189642713 CA413685436 |
281 | W>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs189642713 CA10456532 |
281 | W>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA413685431 rs1372943814 |
282 | P>R | No |
ClinGen TOPMed |
|
|
rs1351082014 CA413685433 |
282 | P>T | No |
ClinGen gnomAD |
|
|
rs1290099184 CA413685418 |
284 | E>* | No |
ClinGen gnomAD |
|
|
CA331401764 rs866808264 |
284 | E>A | No |
ClinGen Ensembl |
|
|
rs1389245713 CA413685402 |
286 | N>T | No |
ClinGen gnomAD |
|
|
rs1302578063 CA413685384 |
288 | A>V | No |
ClinGen TOPMed |
|
|
rs761764824 CA10456531 |
290 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs12688600 CA10456530 VAR_053509 |
291 | G>C | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1290001196 CA413685367 |
291 | G>D | No |
ClinGen gnomAD |
|
|
rs1290001196 CA413685369 |
291 | G>V | No |
ClinGen gnomAD |
|
|
rs1258436856 CA413685358 |
293 | K>Q | No |
ClinGen TOPMed |
|
|
rs763106807 CA10456528 |
294 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1038886352 CA331401763 |
294 | T>I | No |
ClinGen TOPMed |
|
| TCGA novel | 295 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA331401762 rs753383015 |
298 | S>N | No |
ClinGen Ensembl |
|
|
CA331401761 rs912955298 |
298 | S>R | No |
ClinGen gnomAD |
|
|
rs1054529779 CA331401760 |
302 | G>D | No |
ClinGen TOPMed |
|
|
CA10456527 rs775273153 |
304 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA413685281 rs1175082777 |
305 | F>I | No |
ClinGen gnomAD |
|
|
rs769541561 CA10456526 |
307 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1467961012 CA413685262 |
307 | S>P | No |
ClinGen gnomAD |
|
|
CA413685233 rs1180346280 COSM1715172 |
311 | M>I | skin [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs199885644 CA10456522 |
311 | M>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA10456523 rs199885644 |
311 | M>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs777359656 CA10456521 |
312 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 313 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs747762301 CA10456519 CA331401758 |
314 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs771853311 CA10456520 |
314 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA413685205 rs1362172712 |
315 | A>G | No |
ClinGen TOPMed |
|
| TCGA novel | 316 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1224152849 CA413685202 |
316 | N>T | No |
ClinGen gnomAD |
|
|
CA10456518 rs780587675 |
316 | N>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 317 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 317 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA413685170 rs1383422897 |
320 | Q>H | No |
ClinGen gnomAD |
|
|
CA331401757 rs910877503 |
322 | A>V | No |
ClinGen Ensembl |
|
|
CA10456514 rs757419442 |
323 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1397039691 CA413685120 |
328 | E>* | No |
ClinGen TOPMed |
|
|
CA10456513 rs146639449 |
329 | M>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA413685113 rs1159315507 |
329 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA10456512 rs374379484 |
331 | P>A | No |
ClinGen ESP ExAC gnomAD |
|
|
CA10456511 rs374379484 |
331 | P>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA413685096 rs1569454593 |
332 | I>V | No |
ClinGen Ensembl |
|
|
CA10456509 rs368263606 |
333 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371255467 CA10456510 |
333 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA331401753 rs972562718 |
334 | Q>* | No |
ClinGen Ensembl |
|
|
rs776699084 CA10456507 |
335 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1249958207 CA413685074 |
335 | D>G | No |
ClinGen gnomAD |
|
| TCGA novel | 337 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA331401752 rs374021537 |
337 | L>V | No |
ClinGen ESP TOPMed |
|
|
rs760592706 CA10456505 |
339 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs772879834 CA10456504 |
340 | H>D | No |
ClinGen ExAC gnomAD |
|
|
COSM1715171 rs772879834 CA413685046 |
340 | H>Y | Variant assessed as Somatic; impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs144474508 CA10456502 |
341 | T>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs778674370 CA10456501 |
341 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA10456503 rs144474508 |
341 | T>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1366797216 CA413685035 |
342 | G>S | No |
ClinGen gnomAD |
|
|
COSM1125333 CA10456499 rs746202577 |
344 | E>* | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs375796118 CA10456498 |
345 | F>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA413685000 rs1316691138 |
347 | D>N | No |
ClinGen gnomAD |
|
|
CA413684977 rs1603108823 |
350 | P>T | No |
ClinGen Ensembl |
|
|
CA413684964 rs1163566239 |
352 | I>V | No |
ClinGen gnomAD |
|
|
rs777856551 CA10456495 |
353 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA413684951 rs1418569300 |
354 | N>D | No |
ClinGen TOPMed |
|
|
rs1392176167 CA413684947 |
354 | N>S | No |
ClinGen gnomAD |
|
|
rs765375303 CA10456492 |
356 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 356 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1420211652 CA413684920 |
359 | I>V | No |
ClinGen TOPMed |
|
| TCGA novel | 360 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA331401750 rs879063889 |
361 | D>A | No |
ClinGen Ensembl |
|
|
rs1223533518 CA413684898 |
362 | M>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1223533518 CA413684897 |
362 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
COSM1125331 CA413684885 CA413684886 COSM1125330 rs1290727502 |
363 | F>L | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs1490437871 CA413684888 |
363 | F>Y | No |
ClinGen gnomAD |
|
|
CA10456490 rs753579206 |
365 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10456491 rs373056677 |
365 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs79952348 CA331401748 |
367 | S>A | No |
ClinGen Ensembl |
|
| TCGA novel | 369 | I>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA413684837 rs1396095711 |
371 | V>D | No |
ClinGen TOPMed |
|
|
rs760710532 CA413684822 |
373 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10456488 rs760710532 |
373 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1232336885 CA413684805 |
376 | H>N | No |
ClinGen TOPMed |
|
|
CA10456486 rs767172179 |
380 | L>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 380 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM422489 rs1405159038 CA413684773 |
380 | L>P | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs761401636 CA10456485 |
383 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs1556355901 CA10456483 |
383 | Q>P | No |
ClinGen Ensembl |
|
|
rs774201047 CA10456482 |
384 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1302921519 CA413684751 |
384 | P>T | No |
ClinGen gnomAD |
|
|
CA10456481 rs768209919 |
385 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs150866998 CA10456480 |
388 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA413684718 rs1211599147 |
389 | E>K | No |
ClinGen TOPMed |
|
|
CA10456479 rs776894935 |
392 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747565227 CA10456477 COSM1125329 |
394 | E>D | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs771282247 CA10456478 |
394 | E>Q | No |
ClinGen ExAC |
|
|
rs1196996499 CA413684662 |
397 | G>E | No |
ClinGen gnomAD |
|
|
CA10456474 rs41310679 |
397 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 398 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA413684647 rs1251781974 |
399 | P>L | No |
ClinGen gnomAD |
|
|
CA413684641 rs1203238678 |
400 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA413684630 rs1280090175 |
402 | E>* | No |
ClinGen gnomAD |
|
|
CA413684631 rs1280090175 |
402 | E>Q | No |
ClinGen gnomAD |
|
|
CA413684606 rs1344461477 |
405 | M>T | No |
ClinGen gnomAD |
|
|
rs1283057883 CA413684601 |
406 | P>T | No |
ClinGen gnomAD |
|
|
rs187850026 CA10456470 |
407 | I>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10456469 rs187850026 |
407 | I>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10456471 rs755185304 |
407 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA413684591 rs1352874832 |
408 | L>I | No |
ClinGen gnomAD |
|
|
CA331401747 rs191968460 |
409 | G>V | No |
ClinGen 1000Genomes |
|
|
CA413684573 rs1470456422 |
411 | I>V | No |
ClinGen gnomAD |
|
|
CA331401746 COSM1257127 rs1010362746 |
414 | M>I | oesophagus [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA413684553 rs1428783183 |
414 | M>V | No |
ClinGen gnomAD |
|
|
CA10456465 rs143850427 |
415 | G>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA413684546 rs1250948191 |
415 | G>D | No |
ClinGen gnomAD |
|
|
CA10456464 rs143850427 |
415 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA331401745 COSM107162 rs143850427 |
415 | G>S | skin [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA331401744 rs891545844 |
416 | N>S | No |
ClinGen TOPMed |
|
|
CA331401743 rs867972521 |
417 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs762539411 COSM1125328 CA10456462 |
417 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1244508921 CA413684532 |
418 | V>I | No |
ClinGen gnomAD |
|
|
CA413684524 rs1345776495 |
419 | K>* | No |
ClinGen TOPMed |
|
|
CA10456460 rs771241138 |
422 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA413684497 rs1222090333 |
423 | V>I | No |
ClinGen gnomAD |
|
|
CA413684472 rs1486980183 |
426 | L>* | No |
ClinGen TOPMed |
|
|
rs776654052 CA331401741 |
427 | L>F | No |
ClinGen 1000Genomes |
|
|
rs773767518 CA10456458 |
428 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs772582645 CA10456457 |
428 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs748612026 CA10456456 |
429 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 429 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs778879991 CA10456455 |
430 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768757343 CA10456454 |
431 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1453423510 CA413684422 |
434 | V>E | No |
ClinGen gnomAD |
|
|
rs1405659827 CA413684414 |
435 | G>E | No |
ClinGen gnomAD |
|
| TCGA novel | 438 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs933999638 CA331401740 |
440 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs750254417 CA10456450 |
441 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs781070212 CA10456449 |
442 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA10456448 rs147432059 |
442 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs781070212 CA413684373 |
442 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs751469786 CA10456447 |
444 | L>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA413684358 rs751469786 |
444 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10456446 rs763566292 |
446 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1485986885 CA413684331 |
448 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA10456445 rs145296701 |
448 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs145296701 CA331401739 |
448 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1346414108 CA413684310 |
451 | E>D | No |
ClinGen TOPMed |
|
|
CA331401738 rs915508354 |
452 | C>* | No |
ClinGen TOPMed |
|
|
CA413684301 rs1603108292 |
453 | R>G | No |
ClinGen Ensembl |
|
|
COSM488613 CA413684292 rs1431475863 |
454 | P>S | kidney Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA10456444 rs764858630 |
455 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764858630 CA10456443 |
455 | L>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10456441 rs773595919 |
457 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10456442 rs773595919 |
457 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1453725384 CA413684270 |
458 | S>C | No |
ClinGen TOPMed |
|
|
rs938203276 CA331401737 |
458 | S>P | No |
ClinGen TOPMed |
|
|
rs1317721525 CA413684260 |
460 | P>T | No |
ClinGen gnomAD |
|
|
CA413684252 rs1247326812 |
461 | V>F | No |
ClinGen gnomAD |
|
|
CA413684243 rs1334785374 |
462 | E>D | No |
ClinGen gnomAD |
|
|
CA10456440 rs779696225 |
462 | E>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA413684237 rs1384194626 |
463 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1394847402 CA413684207 |
467 | W>C | No |
ClinGen TOPMed |
|
|
rs939904793 CA331401736 |
467 | W>L | No |
ClinGen TOPMed |
|
|
rs909704089 CA331401735 |
469 | P>L | No |
ClinGen Ensembl |
|
|
rs762148191 CA10456439 |
470 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762148191 CA413684195 |
470 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1367396016 CA413684187 |
471 | A>G | No |
ClinGen gnomAD |
|
|
CA10456438 rs774891013 |
473 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1436434967 CA413684145 |
477 | K>R | No |
ClinGen TOPMed |
|
|
rs1382921750 CA413684138 |
478 | M>K | No |
ClinGen gnomAD |
|
|
CA10456437 rs768681832 |
479 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA413684115 rs1260520137 |
481 | L>W | No |
ClinGen gnomAD |
|
| TCGA novel | 482 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs771805725 CA10456435 |
484 | M>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 485 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770142494 CA413684088 |
485 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA10456434 rs770142494 |
485 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1294366051 CA413684084 |
485 | A>V | No |
ClinGen gnomAD |
|
|
rs1375598558 CA413684083 |
486 | R>G | No |
ClinGen TOPMed |
|
|
CA413684076 rs1282516313 |
487 | L>I | No |
ClinGen gnomAD |
|
| TCGA novel | 490 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA331401733 rs183548379 |
491 | R>* | No |
ClinGen 1000Genomes gnomAD |
|
|
CA10456431 rs757100041 |
491 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA413684041 rs1287963635 |
492 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA10456430 rs751495178 |
493 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs1367254437 COSM1469391 CA413684033 |
493 | Q>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA331401732 rs757904195 |
495 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA10456428 rs757904195 |
495 | W>C | No |
ClinGen ExAC gnomAD |
|
|
CA10456429 rs191965351 |
495 | W>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10456427 rs752265310 |
496 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA10456426 rs369594828 |
498 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376992842 CA10456423 |
501 | E>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs775654237 CA331401731 |
502 | A>S | No |
ClinGen Ensembl |
|
|
COSM1715169 rs1467936780 CA413683971 |
502 | A>V | skin [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA413683951 rs1200526026 |
505 | D>E | No |
ClinGen gnomAD |
|
|
rs769215196 CA413683956 |
505 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769215196 CA10456420 COSM1715167 |
505 | D>N | skin [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
| TCGA novel | 508 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA331401729 rs1010895374 |
508 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA10456418 rs561857390 |
508 | A>V | No |
ClinGen 1000Genomes ExAC |
|
| TCGA novel | 511 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs746145375 CA10456416 COSM1257128 |
514 | A>T | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs182523407 CA10456414 |
515 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10456415 rs182523407 |
515 | T>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10456412 rs777375011 |
516 | I>T | No |
ClinGen ExAC |
|
|
rs369188603 CA10456411 |
517 | M>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs747984934 CA10456410 |
517 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369188603 CA331401728 |
517 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs867016415 CA331401727 |
519 | F>I | No |
ClinGen Ensembl |
|
| TCGA novel | 519 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10456409 rs778442085 |
520 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1603108029 CA413683854 |
520 | L>H | No |
ClinGen Ensembl |
|
|
CA413683849 rs1569454407 |
521 | D>V | No |
ClinGen Ensembl |
|
|
CA10456408 rs754451933 |
521 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA10456407 rs753554749 |
522 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1356861482 CA413683836 |
523 | T>M | No |
ClinGen TOPMed |
|
|
CA413683835 rs1381985773 |
524 | T>R | No |
ClinGen gnomAD |
No associated diseases with Q8TD90
2 regional properties for Q8TD90
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | MAGE homology domain | 88 - 288 | IPR002190-1 |
| domain | MAGE homology domain | 311 - 502 | IPR002190-2 |
1 GO annotations of cellular component
| Name | Definition |
|---|---|
| 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. |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
1 GO annotations of biological process
| Name | Definition |
|---|---|
| negative regulation of transcription by RNA polymerase II | Any process that stops, prevents, or reduces the frequency, rate or extent of transcription mediated by RNA polymerase II. |
17 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P43356 | MAGEA2B | Melanoma-associated antigen 2 | Homo sapiens (Human) | PR |
| O15479 | MAGEB2 | Melanoma-associated antigen B2 | Homo sapiens (Human) | PR |
| O15480 | MAGEB3 | Melanoma-associated antigen B3 | Homo sapiens (Human) | PR |
| P43355 | MAGEA1 | Melanoma-associated antigen 1 | Homo sapiens (Human) | PR |
| P43357 | MAGEA3 | Melanoma-associated antigen 3 | Homo sapiens (Human) | PR |
| P43358 | MAGEA4 | Melanoma-associated antigen 4 | Homo sapiens (Human) | PR |
| P43360 | MAGEA6 | Melanoma-associated antigen 6 | Homo sapiens (Human) | PR |
| P43361 | MAGEA8 | Melanoma-associated antigen 8 | Homo sapiens (Human) | PR |
| P43363 | MAGEA10 | Melanoma-associated antigen 10 | Homo sapiens (Human) | PR |
| P43365 | MAGEA12 | Melanoma-associated antigen 12 | Homo sapiens (Human) | PR |
| Q96MG7 | NSMCE3 | Non-structural maintenance of chromosomes element 3 homolog | Homo sapiens (Human) | PR |
| Q9BZ81 | MAGEB5 | Melanoma-associated antigen B5 | Homo sapiens (Human) | PR |
| Q9HAY2 | MAGEF1 | Melanoma-associated antigen F1 | Homo sapiens (Human) | PR |
| P43364 | MAGEA11 | Melanoma-associated antigen 11 | Homo sapiens (Human) | PR |
| Q9UNF1 | MAGED2 | Melanoma-associated antigen D2 | Homo sapiens (Human) | PR |
| Q9Y5V3 | MAGED1 | Melanoma-associated antigen D1 | Homo sapiens (Human) | PR |
| Q96JG8 | MAGED4B | Melanoma-associated antigen D4 | Homo sapiens (Human) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSLVSQNARH | CSAEITADYG | DGRGEIQATN | ASGSPTSMLV | VDAPQCPQAP | INSQCVNTSQ |
| 70 | 80 | 90 | 100 | 110 | 120 |
| AVQDPNDLEV | LIDEQSRRLG | ALRVHDPLED | RSIALVNFMR | MKSQTEGSIQ | QSEMLEFLRE |
| 130 | 140 | 150 | 160 | 170 | 180 |
| YSDQFPEILR | RASAHLDQVF | GLNLRVIDPQ | ADTYNLVSKR | GFQITDRIAE | SLDMPKASLL |
| 190 | 200 | 210 | 220 | 230 | 240 |
| ALVLGHILLN | GNRAREASIW | DLLLKVDMWD | KPQRINNLFG | NTRNLLTTDF | VCMRFLEYWP |
| 250 | 260 | 270 | 280 | 290 | 300 |
| VYGTNPLEFE | FLWGSRAHRE | ITKMEALKFV | SDAHDEEPWS | WPEEYNKALE | GDKTKERSLT |
| 310 | 320 | 330 | 340 | 350 | 360 |
| AGLEFWSEDT | MNDKANDLVQ | LAISVTEEML | PIHQDELLAH | TGKEFEDVFP | NILNRATLIL |
| 370 | 380 | 390 | 400 | 410 | 420 |
| DMFYGLSLIE | VDTSEHIYLL | VQQPESEEEQ | VMLESLGRPT | QEYVMPILGL | IFLMGNRVKE |
| 430 | 440 | 450 | 460 | 470 | 480 |
| ANVWNLLRRF | SVDVGRKHSI | TRKLMRQRYL | ECRPLSYSNP | VEYELLWGPR | AHHETIKMKV |
| 490 | 500 | 510 | 520 | ||
| LEYMARLYRK | RPQNWPEQYR | EAVEDEEARA | KSEATIMFFL | DPT |