Q8IYL2
PR
Gene name |
TRMT44 (C4orf23, METTL19) |
Protein name |
Probable tRNA (uracil-O(2)-)-methyltransferase |
Names |
Methyltransferase-like protein 19 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:152992 |
EC number |
2.1.1.211: Methyltransferases |
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 Q8IYL2
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q8IYL2-F1 | Predicted | AlphaFoldDB |
749 variants for Q8IYL2
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs987026826 CA92101726 |
2 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA92101733 rs942663981 |
4 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA92101731 rs942663981 |
4 | V>E | No |
ClinGen TOPMed gnomAD |
|
|
rs911238388 CA92101727 |
4 | V>L | No |
ClinGen Ensembl |
|
|
CA92101736 rs974207302 |
5 | G>V | No |
ClinGen Ensembl |
|
|
rs1291006318 CA356250706 |
6 | R>C | No |
ClinGen gnomAD |
|
|
rs766147645 CA2851859 |
7 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1161344336 CA356250715 |
8 | G>R | No |
ClinGen TOPMed |
|
|
rs1362540215 CA356250722 |
9 | I>F | No |
ClinGen gnomAD |
|
|
CA92101751 rs920000715 |
10 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
CA356250740 rs1312785099 |
11 | Y>* | No |
ClinGen gnomAD |
|
|
rs778957821 CA92101761 |
11 | Y>D | No |
ClinGen TOPMed gnomAD |
|
|
rs778957821 CA356250736 |
11 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
CA356250747 rs1478960336 |
12 | P>L | No |
ClinGen TOPMed |
|
|
rs929858516 CA92101762 |
13 | G>S | No |
ClinGen TOPMed |
|
|
rs754040852 CA2851860 |
14 | A>E | No |
ClinGen ExAC gnomAD |
|
|
rs1452509256 CA356250754 |
14 | A>P | No |
ClinGen TOPMed |
|
|
rs1208514661 CA356250760 |
15 | L>F | No |
ClinGen TOPMed |
|
|
CA356250771 rs755237936 |
17 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs755237936 CA2851861 |
17 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1484354650 CA356250781 |
18 | Q>H | No |
ClinGen gnomAD |
|
|
rs995116528 CA92101790 |
18 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1027805819 CA92101797 |
19 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA356250786 rs1027805819 |
19 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1560214457 CA356250789 |
20 | F>I | No |
ClinGen Ensembl |
|
|
CA92101844 rs1055625929 |
26 | V>M | No |
ClinGen Ensembl |
|
|
CA356250841 rs1255478712 |
27 | W>* | No |
ClinGen gnomAD |
|
|
rs1404763662 CA356250853 |
29 | E>G | No |
ClinGen TOPMed |
|
|
CA356250857 rs1161854650 |
30 | R>G | No |
ClinGen gnomAD |
|
|
CA356250863 rs1413197296 |
30 | R>S | No |
ClinGen gnomAD |
|
|
CA92101845 rs894171272 |
31 | P>T | No |
ClinGen Ensembl |
|
|
rs1579022456 CA356250882 |
33 | V>G | No |
ClinGen Ensembl |
|
|
CA356250883 rs1401231683 |
34 | A>T | No |
ClinGen Ensembl |
|
|
CA92101857 rs1011657696 |
35 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
rs778924433 CA2851862 |
36 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs758445075 CA92101881 |
36 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1421796048 CA356250902 |
37 | R>G | No |
ClinGen TOPMed |
|
|
CA356250904 rs1449759347 |
37 | R>Q | No |
ClinGen gnomAD |
|
|
rs902940185 CA92101892 |
38 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA2851864 rs758774873 |
39 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs955495737 CA356250918 |
39 | C>W | No |
ClinGen TOPMed |
|
|
rs1008512865 CA92101920 |
40 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1490584294 CA356250929 |
41 | A>G | No |
ClinGen gnomAD |
|
|
rs1329753853 CA356250926 |
41 | A>S | No |
ClinGen gnomAD |
|
|
CA92101926 rs547899288 |
42 | R>L | No |
ClinGen 1000Genomes gnomAD |
|
|
CA356250945 rs1314170271 |
44 | E>G | No |
ClinGen gnomAD |
|
|
rs778350913 CA2851865 |
45 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356250955 rs1482293811 |
46 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs560407049 CA92101951 |
47 | W>* | No |
ClinGen 1000Genomes |
|
|
CA2851866 rs533050698 |
48 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA92101967 rs974714975 |
51 | L>P | No |
ClinGen TOPMed |
|
|
rs1472543406 CA356250995 |
52 | P>L | No |
ClinGen gnomAD |
|
|
rs1427614556 CA356251010 |
55 | E>K | No |
ClinGen gnomAD |
|
|
rs1415830644 CA356251026 |
57 | R>C | No |
ClinGen gnomAD |
|
|
rs1415830644 CA356251025 |
57 | R>G | No |
ClinGen gnomAD |
|
|
CA356251029 rs1333236290 |
57 | R>L | No |
ClinGen TOPMed |
|
|
CA356251035 rs1176270858 |
58 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs527445129 CA92101981 |
60 | G>E | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA356251043 rs1309306106 |
60 | G>R | No |
ClinGen gnomAD |
|
|
CA356251054 rs1286241751 |
62 | S>G | No |
ClinGen gnomAD |
|
|
CA356251057 rs1369404669 |
62 | S>I | No |
ClinGen gnomAD |
|
|
rs919901636 CA92101984 |
64 | G>C | No |
ClinGen TOPMed |
|
|
rs1220067855 CA356251069 |
64 | G>D | No |
ClinGen gnomAD |
|
|
rs919901636 CA356251067 |
64 | G>S | No |
ClinGen TOPMed |
|
|
CA2851867 rs771312952 |
65 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs781458066 CA2851868 |
67 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356251104 rs1237109471 |
69 | E>G | No |
ClinGen TOPMed |
|
|
rs1203553501 CA356251100 |
69 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA356251121 rs1248839719 |
72 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA2851869 rs748917670 |
73 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1276035757 CA356251129 |
73 | G>V | No |
ClinGen TOPMed |
|
|
rs1424104674 CA356251135 |
74 | P>L | No |
ClinGen gnomAD |
|
| TCGA novel | 75 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2851870 rs768450088 |
76 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA356251146 rs1169947887 |
76 | Q>L | No |
ClinGen gnomAD |
|
|
CA356251145 rs1169947887 |
76 | Q>R | No |
ClinGen gnomAD |
|
|
CA356251151 rs1218456947 |
77 | G>S | No |
ClinGen TOPMed |
|
|
CA2851871 rs564114043 |
78 | S>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1429056603 CA356251168 |
80 | G>* | No |
ClinGen TOPMed gnomAD |
|
|
CA2851872 rs184964039 |
80 | G>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1351514117 CA356251174 |
81 | G>E | No |
ClinGen gnomAD |
|
|
CA356251171 CA356251173 rs1471802709 |
81 | G>R | No |
ClinGen TOPMed |
|
|
rs1351514117 CA356251176 |
81 | G>V | No |
ClinGen gnomAD |
|
|
CA356251182 rs1436990972 |
82 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1365838861 CA356251187 |
83 | P>L | No |
ClinGen gnomAD |
|
|
CA2851873 rs771835830 |
84 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA356251196 rs1298436546 |
85 | P>S | No |
ClinGen gnomAD |
|
|
rs773190135 CA2851874 |
86 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA356251225 rs1443822080 |
90 | G>* | No |
ClinGen gnomAD |
|
|
rs760581652 CA2851875 |
90 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA356251231 rs1483921579 |
91 | P>L | No |
ClinGen TOPMed |
|
|
CA92102109 rs927738808 |
91 | P>S | No |
ClinGen TOPMed |
|
|
rs939131288 CA92102121 |
93 | Q>E | No |
ClinGen TOPMed |
|
|
rs766169556 CA2851876 |
93 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1214160375 CA356251250 |
94 | G>D | No |
ClinGen TOPMed |
|
|
CA356251256 rs1390288174 |
95 | T>M | No |
ClinGen gnomAD |
|
|
CA356251258 rs1390288174 |
95 | T>R | No |
ClinGen gnomAD |
|
|
rs866002811 CA92102125 |
96 | A>E | No |
ClinGen Ensembl |
|
|
rs759257986 CA2851877 |
98 | C>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759705526 CA2851878 |
102 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759705526 CA356251305 |
102 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356251308 rs1415945464 |
103 | A>T | No |
ClinGen gnomAD |
|
|
CA356251315 rs1579023396 |
104 | Q>E | No |
ClinGen Ensembl |
|
|
rs1322657309 CA356251320 |
104 | Q>H | No |
ClinGen gnomAD |
|
|
CA356251319 rs1405877688 |
104 | Q>R | No |
ClinGen gnomAD |
|
|
rs915822512 CA92102132 |
105 | G>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA356251322 rs1391936627 |
105 | G>S | No |
ClinGen gnomAD |
|
|
rs751244950 CA356251341 |
107 | C>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1414469595 CA356251338 |
107 | C>Y | No |
ClinGen TOPMed |
|
|
rs1321415668 CA356251361 |
110 | E>K | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 111 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1560215084 CA356251375 |
112 | A>S | No |
ClinGen Ensembl |
|
|
rs1364687103 CA356251389 |
114 | R>G | No |
ClinGen gnomAD |
|
|
rs1288072440 CA356251396 |
115 | E>K | No |
ClinGen gnomAD |
|
|
rs1433066097 CA356251404 |
116 | A>T | No |
ClinGen gnomAD |
|
|
rs1357679322 CA356251430 |
120 | P>S | No |
ClinGen gnomAD |
|
|
CA356251437 rs930858483 |
121 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA92102155 rs930858483 |
121 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1186598537 CA356251454 |
124 | S>P | No |
ClinGen TOPMed |
|
|
rs752709091 CA2851880 |
124 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1248308624 CA356251458 |
125 | G>R | No |
ClinGen gnomAD |
|
|
CA356251474 rs1464149360 |
127 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1190478271 CA356251479 |
128 | G>R | No |
ClinGen gnomAD |
|
|
CA92102175 rs999023017 |
131 | E>G | No |
ClinGen Ensembl |
|
|
rs777771310 CA2851882 |
132 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777771310 CA356251509 |
132 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356251541 rs1388269659 |
137 | F>I | No |
ClinGen gnomAD |
|
|
CA92102201 rs866086316 |
137 | F>L | No |
ClinGen Ensembl |
|
|
CA356251549 rs1232730120 |
138 | P>L | No |
ClinGen TOPMed |
|
|
rs549393245 CA2851884 |
138 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2851883 rs549393245 |
138 | P>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1051497382 CA92102216 |
139 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1005052780 CA92102245 |
139 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA92102259 rs754561186 |
140 | A>G | No |
ClinGen Ensembl |
|
|
rs1341095708 CA356251556 |
140 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA356251554 rs1341095708 |
140 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA356251573 rs1445055405 |
141 | D>E | No |
ClinGen gnomAD |
|
|
rs1447988053 CA356251566 |
141 | D>Y | No |
ClinGen gnomAD |
|
|
CA356251585 rs1352848243 |
143 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA356251618 rs1229456326 |
145 | L>R | No |
ClinGen gnomAD |
|
|
rs1267883989 CA356251656 |
148 | D>V | No |
ClinGen gnomAD |
|
|
CA2851885 CA92102286 rs576055525 |
149 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs376568530 CA2851886 |
150 | S>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs199687961 CA92102307 |
151 | Q>H | No |
ClinGen Ensembl |
|
|
rs1328986981 CA356251698 |
152 | S>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 153 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1442454037 CA356251713 |
154 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1427710340 CA356251719 |
154 | A>V | No |
ClinGen TOPMed |
|
|
CA2851887 rs768364225 |
155 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA92102317 rs768364225 |
155 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356251727 rs1255377522 |
155 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs778711332 CA2851888 |
156 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1579024039 CA356251749 |
157 | N>K | No |
ClinGen Ensembl |
|
|
CA92102340 rs1027415410 |
157 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA356251759 rs1339313839 |
158 | S>* | No |
ClinGen gnomAD |
|
|
rs951402177 CA92102355 |
159 | E>D | No |
ClinGen Ensembl |
|
|
rs61733546 CA2851889 |
162 | A>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA356251795 rs1384177456 |
162 | A>T | No |
ClinGen gnomAD |
|
|
CA356251826 rs1414029824 |
164 | L>P | No |
ClinGen gnomAD |
|
|
rs747503983 CA92102381 |
165 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA356251863 rs1288126823 CA356251861 |
168 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1334300928 CA356251883 |
170 | G>R | No |
ClinGen gnomAD |
|
|
CA356251901 rs1236468167 |
171 | S>L | No |
ClinGen gnomAD |
|
|
CA356251906 rs1366163093 |
172 | Q>* | No |
ClinGen TOPMed |
|
|
rs1345253686 CA356251928 |
173 | P>Q | No |
ClinGen gnomAD |
|
|
CA356251922 rs1276288545 |
173 | P>S | No |
ClinGen gnomAD |
|
|
rs1325773468 CA356251933 |
174 | E>Q | No |
ClinGen TOPMed |
|
|
rs770799842 CA2851893 |
175 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA92102398 rs142307616 |
177 | R>C | No |
ClinGen 1000Genomes |
|
|
rs189371199 CA2851894 |
179 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA356251995 rs189371199 |
179 | L>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1417128294 CA356252008 |
180 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA356252039 rs1579024382 |
182 | V>G | No |
ClinGen Ensembl |
|
|
rs759333475 CA2851895 |
183 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA356252056 rs1171849511 |
184 | R>K | No |
ClinGen gnomAD |
|
|
rs947310830 CA92102413 |
185 | T>I | No |
ClinGen Ensembl |
|
|
CA356252078 rs1392034836 |
186 | V>F | No |
ClinGen gnomAD |
|
|
CA2851896 rs553499901 |
187 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356252102 rs1431195750 |
188 | P>R | No |
ClinGen TOPMed |
|
|
rs924299813 CA92102415 |
189 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1579024490 CA356252155 |
191 | S>R | No |
ClinGen Ensembl |
|
|
CA356252183 rs1179109673 |
193 | H>Y | No |
ClinGen TOPMed |
|
|
CA356252252 rs1186589143 |
196 | L>F | No |
ClinGen gnomAD |
|
|
rs775673983 CA2851898 |
197 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs112997829 CA2851899 |
197 | T>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1233038793 CA356252283 |
198 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA356252281 rs1233038793 |
198 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1300654267 CA356252304 |
199 | P>H | No |
ClinGen TOPMed gnomAD |
|
|
rs960425824 CA92102434 |
199 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA356252349 rs1228460636 |
201 | R>T | No |
ClinGen gnomAD |
|
|
CA2851901 rs751618154 |
203 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356252397 rs1250742355 |
203 | I>V | No |
ClinGen gnomAD |
|
|
rs1579024667 CA356252435 |
205 | V>L | No |
ClinGen Ensembl |
|
|
CA356253793 rs1560219233 |
207 | D>G | No |
ClinGen Ensembl |
|
|
CA356252474 rs1338601528 |
207 | D>N | No |
ClinGen Ensembl |
|
|
rs774524929 CA92107293 |
209 | L>F | No |
ClinGen TOPMed |
|
|
CA2851909 rs193044092 |
210 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1182567777 CA356253845 |
211 | G>* | No |
ClinGen TOPMed |
|
|
CA356253848 rs1324233227 |
211 | G>E | No |
ClinGen gnomAD |
|
|
CA356253861 rs1426100305 |
212 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1426100305 CA356253863 |
212 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA356253870 rs1253972741 |
213 | I>V | No |
ClinGen gnomAD |
|
|
CA92107304 rs982649491 |
214 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1460254850 CA356253919 |
217 | P>S | No |
ClinGen gnomAD |
|
|
rs1161814943 CA356253942 |
220 | E>G | No |
ClinGen gnomAD |
|
|
rs1193628191 CA356253957 |
222 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA2851911 rs746519271 |
222 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA92107356 rs183531811 |
224 | G>V | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA356253988 rs1313399420 |
227 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA356254001 rs1476602760 |
229 | K>Q | No |
ClinGen gnomAD |
|
|
CA356254015 rs1354716533 |
230 | M>I | No |
ClinGen gnomAD |
|
|
rs1200963148 CA356254014 |
230 | M>R | No |
ClinGen gnomAD |
|
|
rs1231286324 CA356254023 |
231 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
CA92107366 rs894228972 |
232 | N>D | No |
ClinGen Ensembl |
|
|
rs1240493879 CA356254035 |
233 | V>L | No |
ClinGen TOPMed |
|
|
CA356254047 rs1269780267 |
234 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA356254069 rs1215273765 |
236 | I>M | No |
ClinGen gnomAD |
|
|
CA356254080 rs1259071364 |
238 | L>V | No |
ClinGen gnomAD |
|
|
CA2851914 rs200663012 |
239 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs191714565 CA356254090 |
239 | S>I | No |
ClinGen 1000Genomes gnomAD |
|
|
rs191714565 CA92107398 |
239 | S>T | No |
ClinGen 1000Genomes gnomAD |
|
|
rs61737649 CA356254106 |
241 | S>N | No |
ClinGen gnomAD |
|
|
CA92107419 rs61737649 |
241 | S>T | No |
ClinGen gnomAD |
|
|
rs977584561 CA92115870 |
245 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
CA92115877 rs977584561 |
245 | W>C | No |
ClinGen TOPMed gnomAD |
|
|
rs769552646 CA2851915 |
245 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA356254392 rs1432822128 |
246 | F>Y | No |
ClinGen gnomAD |
|
|
CA356254395 rs761801656 |
247 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356254399 rs1406670796 |
247 | I>T | No |
ClinGen Ensembl |
|
|
CA2851920 rs761801656 |
247 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356254405 rs944588280 |
248 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA92115906 rs944588280 |
248 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA92115922 rs923522812 |
250 | L>I | No |
ClinGen TOPMed |
|
|
CA92115944 rs1038955250 |
251 | I>T | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 252 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1370008412 CA356254437 |
253 | C>F | No |
ClinGen gnomAD |
|
|
CA356254469 rs1487121172 |
257 | W>L | No |
ClinGen gnomAD |
|
|
CA356254487 rs1273717835 |
260 | D>N | No |
ClinGen TOPMed |
|
|
rs1302791596 CA356254509 |
263 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs767770866 CA2851921 |
265 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA92115966 rs900461639 |
266 | K>R | No |
ClinGen TOPMed |
|
|
rs61739067 CA2851922 |
267 | P>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs756727228 CA2851923 |
268 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA356254575 rs1054321106 |
268 | T>K | No |
ClinGen TOPMed gnomAD |
|
|
CA92115996 COSM3768036 COSM3768037 rs1054321106 |
268 | T>M | liver [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA356254589 rs1248749999 |
269 | W>* | No |
ClinGen gnomAD |
|
|
CA356254597 rs1489264899 |
270 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
CA92115997 rs891536436 |
272 | E>V | No |
ClinGen TOPMed |
|
|
rs61737659 CA2851924 |
276 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs778337144 CA92116009 |
280 | K>E | No |
ClinGen Ensembl |
|
|
rs971087936 CA92116032 |
280 | K>N | No |
ClinGen TOPMed |
|
|
CA92116022 rs575452079 |
280 | K>R | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA356254748 rs1001646332 |
281 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1001646332 CA92116036 |
281 | W>S | No |
ClinGen TOPMed gnomAD |
|
|
CA92116037 rs545541153 |
285 | N>S | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA356254826 rs1358972434 CA356254827 |
286 | K>N | No |
ClinGen gnomAD |
|
|
rs1426925540 CA356254889 |
291 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs754176871 CA2851926 |
292 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2851925 rs754176871 |
292 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1351358146 CA356254896 |
292 | S>R | No |
ClinGen gnomAD |
|
|
rs962959963 CA92116043 |
294 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA356254917 rs1325525494 |
295 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1325525494 CA356254918 |
295 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1337468420 CA356254920 |
296 | L>V | No |
ClinGen gnomAD |
|
|
CA92116051 rs1025786702 |
299 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1308288429 CA356254977 |
300 | M>I | No |
ClinGen gnomAD |
|
|
rs73211375 CA2851928 VAR_066601 |
300 | M>L | No |
ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
CA356254989 rs1339310011 |
301 | K>* | No |
ClinGen gnomAD |
|
|
CA2851929 rs756750049 |
302 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA356255058 rs1322742531 |
305 | A>G | No |
ClinGen gnomAD |
|
|
rs540935559 CA92116088 |
305 | A>P | No |
ClinGen 1000Genomes gnomAD |
|
|
CA356255050 rs540935559 |
305 | A>T | No |
ClinGen 1000Genomes gnomAD |
|
|
CA356255106 rs1272218351 |
307 | Q>H | No |
ClinGen gnomAD |
|
|
rs1466858490 CA356255172 |
311 | E>G | No |
ClinGen gnomAD |
|
|
CA2851930 rs780728114 |
313 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA356255237 rs1475057718 |
315 | E>K | No |
ClinGen gnomAD |
|
|
CA92117973 rs1008254314 |
319 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA92117985 rs1018089343 |
320 | W>* | No |
ClinGen TOPMed |
|
|
rs888334446 CA356255992 |
320 | W>G | No |
ClinGen TOPMed gnomAD |
|
|
rs888334446 CA92117975 |
320 | W>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1399091456 CA356256016 |
322 | E>K | No |
ClinGen gnomAD |
|
|
rs772249791 CA2851947 |
326 | P>T | No |
ClinGen ExAC |
|
|
rs746235503 CA92118023 |
328 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1560223580 CA356256097 |
328 | K>Q | No |
ClinGen Ensembl |
|
|
CA356256122 rs1027326258 CA356256123 |
330 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA92118033 rs1027326258 |
330 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA92118034 rs201122467 |
331 | Y>C | No |
ClinGen gnomAD |
|
|
rs1252681668 CA356256157 |
332 | E>D | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 332 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA356256159 rs1349485411 |
333 | D>N | No |
ClinGen gnomAD |
|
|
rs1221639446 CA356256199 |
335 | A>G | No |
ClinGen gnomAD |
|
|
CA92118035 rs146119368 |
337 | A>T | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1255175851 CA356256231 |
338 | A>G | No |
ClinGen gnomAD |
|
|
rs1209433380 CA356256228 |
338 | A>T | No |
ClinGen TOPMed |
|
|
CA356256242 rs1277982107 |
339 | Y>S | No |
ClinGen TOPMed |
|
|
CA356256262 rs1238808267 |
340 | L>P | No |
ClinGen TOPMed |
|
|
CA356256272 rs1560223679 |
341 | L>P | No |
ClinGen Ensembl |
|
|
CA356256738 rs1232900807 |
342 | I>V | No |
ClinGen gnomAD |
|
|
CA356256745 rs1338209200 |
343 | L>V | No |
ClinGen TOPMed |
|
|
CA356256749 rs1344224909 |
344 | W>R | No |
ClinGen gnomAD |
|
|
rs1196166472 CA356256778 |
347 | E>G | No |
ClinGen gnomAD |
|
|
CA2851952 rs759818756 |
349 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA2851953 rs765695023 |
350 | E>* | No |
ClinGen ExAC |
|
| TCGA novel | 350 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1880024 VAR_027515 CA2851954 |
352 | R>G | No |
ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
CA356256810 rs1455179504 |
352 | R>I | No |
ClinGen TOPMed |
|
|
CA2851955 rs756940464 |
352 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs1253836589 CA356256826 |
355 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1453915319 CA356256835 |
356 | R>S | No |
ClinGen gnomAD |
|
|
rs952750721 CA92118784 |
356 | R>T | No |
ClinGen Ensembl |
|
|
COSM1744625 CA356256838 rs1378237848 COSM1744624 |
357 | Q>* | biliary_tract [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs751817339 CA2851956 |
358 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356256865 rs1462882590 |
361 | D>Y | No |
ClinGen gnomAD |
|
|
CA92118792 rs923688313 |
362 | L>M | No |
ClinGen TOPMed |
|
|
CA356256890 rs1217497726 |
365 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1205894598 CA356256927 |
371 | H>Y | No |
ClinGen TOPMed |
|
|
rs1389352214 CA356256935 |
372 | I>V | No |
ClinGen gnomAD |
|
|
rs1371262492 CA356256962 |
373 | L>R | No |
ClinGen gnomAD |
|
|
CA2851961 rs768320433 |
374 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA92118836 rs917071135 |
377 | G>E | No |
ClinGen gnomAD |
|
|
rs992687965 CA92118831 |
377 | G>R | No |
ClinGen Ensembl |
|
|
rs765484797 CA2851973 |
378 | H>L | No |
ClinGen ExAC gnomAD |
|
|
CA2851975 rs761403100 |
380 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1191598571 CA356257204 |
380 | G>S | No |
ClinGen gnomAD |
|
|
rs761403100 CA2851976 |
380 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1189112665 CA356257260 |
384 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs755615820 CA356257258 |
384 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs755615820 CA2851978 |
384 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs756357112 CA2851979 |
385 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs754976088 CA2851981 |
386 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2851982 rs527965244 |
386 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA356257510 rs1287772512 |
390 | I>M | No |
ClinGen gnomAD |
|
|
rs1453923892 CA356257508 |
390 | I>S | No |
ClinGen gnomAD |
|
|
rs747971205 CA356257538 |
392 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747971205 CA356257533 |
392 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747971205 CA2851984 |
392 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2851985 rs377438967 |
393 | M>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs778141191 CA2851986 |
393 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA356257562 rs377438967 |
393 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs747296714 CA2851987 |
394 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA356257629 rs1340749003 |
396 | P>L | No |
ClinGen gnomAD |
|
|
rs890303001 CA92120613 |
396 | P>S | No |
ClinGen TOPMed |
|
|
CA356257631 rs1238429325 |
397 | Q>E | No |
ClinGen gnomAD |
|
|
CA92120623 rs944556321 |
397 | Q>H | No |
ClinGen TOPMed |
|
|
CA356257634 rs1258981158 |
397 | Q>R | No |
ClinGen gnomAD |
|
|
rs776815435 CA2851989 |
398 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA2851990 rs746318968 |
399 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA2851991 rs369182242 |
401 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs141371666 CA356258196 |
403 | D>E | No |
ClinGen ESP ExAC |
|
|
rs79184768 CA2852017 |
405 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2852018 rs764902038 |
406 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs752662925 CA2852019 |
407 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1478437113 CA356258215 |
407 | P>S | No |
ClinGen gnomAD |
|
|
CA356258223 rs1216781942 |
408 | N>S | No |
ClinGen gnomAD |
|
|
rs138834659 CA2852021 |
410 | K>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs763943742 CA2852022 |
410 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs751419803 CA2852023 |
411 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs149369819 CA2852024 |
411 | T>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA356258245 rs1560233108 |
412 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA356258257 rs1193728427 |
413 | F>L | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 413 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1469530225 CA356258254 |
413 | F>Y | No |
ClinGen gnomAD |
|
|
CA356258264 rs1169402110 |
414 | P>L | No |
ClinGen TOPMed |
|
|
CA2852026 rs781477347 |
415 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2852027 rs756204105 |
416 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1188252883 CA356258278 |
417 | D>H | No |
ClinGen gnomAD |
|
|
CA2852028 rs780155008 |
418 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780155008 CA92130193 |
418 | W>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1025711396 CA92130228 |
421 | G>S | No |
ClinGen TOPMed |
|
| TCGA novel | 424 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs769175487 CA2852030 |
425 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA92130234 rs971444315 |
426 | E>* | No |
ClinGen TOPMed |
|
|
CA2852031 rs779192782 |
427 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA92130252 rs779192782 |
427 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs371365719 CA2852033 |
428 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759164680 CA2852035 |
429 | P>L | No |
ClinGen ExAC |
|
|
CA2852036 rs769400020 |
430 | W>C | No |
ClinGen ExAC gnomAD |
|
|
rs937164062 CA92130302 |
430 | W>R | No |
ClinGen TOPMed |
|
|
rs1579067149 CA356258372 |
431 | I>T | No |
ClinGen Ensembl |
|
|
rs1435365026 CA356258369 |
431 | I>V | No |
ClinGen TOPMed |
|
|
rs775174371 CA2852037 |
433 | V>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA92130342 rs990493973 |
435 | A>T | No |
ClinGen Ensembl |
|
|
CA92131845 rs990726640 |
438 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA356259059 rs1259492359 |
438 | S>P | No |
ClinGen gnomAD |
|
|
CA356259064 rs1175575079 |
439 | S>P | No |
ClinGen TOPMed |
|
|
CA356259091 rs376449317 |
442 | C>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs143660619 CA2852065 |
443 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs112944169 CA2852067 |
443 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs143660619 CA2852066 |
443 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 444 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1407297036 CA356259101 |
444 | F>Y | No |
ClinGen gnomAD |
|
|
rs758862638 CA356259115 |
446 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs758862638 CA2852068 |
446 | V>D | No |
ClinGen ExAC gnomAD |
|
|
CA2852069 rs778153091 |
447 | L>I | No |
ClinGen ExAC |
|
|
CA356259121 rs1229319701 |
447 | L>R | No |
ClinGen TOPMed |
|
|
CA92131902 rs913286508 |
448 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1176129918 CA356259126 |
448 | P>L | No |
ClinGen gnomAD |
|
|
rs913286508 CA356259123 |
448 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1414619836 CA356259132 |
449 | C>F | No |
ClinGen gnomAD |
|
|
CA356259131 rs1414619836 |
449 | C>S | No |
ClinGen gnomAD |
|
|
CA2852072 rs540245491 |
451 | F>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 451 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 454 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA356259175 rs34873641 |
455 | I>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA356259177 rs1380806945 |
455 | I>T | No |
ClinGen gnomAD |
|
|
VAR_066602 rs34873641 CA2852074 |
455 | I>V | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA92131930 rs907187961 |
457 | R>K | No |
ClinGen TOPMed |
|
|
rs748076141 CA2852076 |
458 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2852075 rs773774398 |
458 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA356259204 rs370035059 |
460 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs760461331 CA356259205 |
460 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2852079 rs760461331 |
460 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs370035059 CA2852078 |
460 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1439807965 CA356259210 |
461 | R>K | No |
ClinGen gnomAD |
|
|
rs1182848786 CA356259216 |
462 | Q>* | No |
ClinGen gnomAD |
|
|
rs1055027798 CA92131982 |
463 | S>R | No |
ClinGen TOPMed |
|
|
CA356259224 rs1437965543 |
463 | S>T | No |
ClinGen gnomAD |
|
|
CA2852081 rs769007400 |
464 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs994644599 CA92132022 |
465 | K>T | No |
ClinGen TOPMed |
|
|
rs759797431 CA2852083 |
466 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs759797431 CA2852084 |
466 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs147229355 CA2852085 |
467 | Q>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA356259277 rs147229355 |
467 | Q>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs764510664 CA2852087 |
469 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356259319 rs764510664 |
469 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2852086 rs373816157 |
469 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs757680636 CA2852089 |
470 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA2852088 rs752174247 |
470 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA356259323 rs1375681864 |
470 | E>K | No |
ClinGen gnomAD |
|
|
rs1239022778 CA356259383 |
473 | D>H | No |
ClinGen TOPMed |
|
|
CA356259448 rs1232379856 |
476 | K>T | No |
ClinGen gnomAD |
|
|
CA356259464 rs1254140827 |
477 | E>G | No |
ClinGen gnomAD |
|
|
rs552465552 CA2852092 |
478 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2852091 rs552465552 |
478 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2852093 rs375930997 |
479 | G>D | No |
ClinGen ESP ExAC |
|
|
rs1017550880 CA92132098 |
480 | F>L | No |
ClinGen gnomAD |
|
|
CA356259491 rs1017550880 |
480 | F>V | No |
ClinGen gnomAD |
|
|
CA356259513 rs1253645512 |
482 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs773011837 CA2852096 |
483 | G>R | No |
ClinGen ExAC |
|
|
CA356259547 rs1197426545 |
484 | F>V | No |
ClinGen gnomAD |
|
|
rs746998971 CA2852097 |
485 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA2852099 rs376641486 |
486 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2852102 rs375168963 |
487 | D>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs375168963 CA356259606 |
487 | D>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2852101 rs765395676 |
487 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA356259620 rs1385711127 |
488 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
CA356259634 rs1299174951 |
488 | E>D | No |
ClinGen gnomAD |
|
|
rs1385711127 CA356259615 |
488 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA356259660 rs113553358 |
490 | C>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2852105 rs113553358 |
490 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356259656 rs113553358 |
490 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs538212481 CA92132191 |
490 | C>Y | No |
ClinGen Ensembl |
|
|
CA356259681 rs1277268381 |
491 | L>H | No |
ClinGen gnomAD |
|
|
CA356259700 rs1316317308 |
492 | R>S | No |
ClinGen gnomAD |
|
|
CA2852106 rs528136148 COSM1694147 COSM1694145 |
494 | P>S | Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs767951418 CA2852107 |
496 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA2852109 rs750840713 |
497 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766614097 CA2852147 |
499 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356260277 rs766614097 |
499 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1579074088 CA356260285 |
500 | C>Y | No |
ClinGen Ensembl |
|
|
CA2852151 rs369164973 |
502 | V>A | No |
ClinGen ESP ExAC gnomAD |
|
|
CA2852149 rs140592000 |
502 | V>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs140592000 CA2852150 |
502 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA356260301 rs1351978718 |
503 | G>R | No |
ClinGen TOPMed |
|
|
rs756743925 CA2852152 |
503 | G>V | No |
ClinGen ExAC |
|
|
CA356260316 rs1174054286 |
505 | S>C | No |
ClinGen gnomAD |
|
|
rs767059061 CA2852153 |
507 | T>I | No |
ClinGen ExAC |
|
|
CA356260331 rs1464330030 |
508 | Y>H | No |
ClinGen gnomAD |
|
|
CA356260340 rs1342767921 |
509 | P>H | No |
ClinGen TOPMed |
|
|
rs756105701 CA2852155 |
509 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1341498299 CA356260354 |
511 | S>C | No |
ClinGen gnomAD |
|
|
CA356260375 rs1360551526 |
514 | A>V | No |
ClinGen TOPMed |
|
|
rs779273311 CA2852160 |
516 | V>E | No |
ClinGen ExAC gnomAD |
|
|
CA2852159 rs749119568 |
516 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2852158 rs749119568 |
516 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356260388 rs1282708398 |
517 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs748431087 CA2852161 |
517 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1252775878 CA356260394 |
518 | E>* | No |
ClinGen gnomAD |
|
|
rs985259089 CA92135681 |
519 | K>E | No |
ClinGen Ensembl |
|
|
rs1364334163 CA356260405 |
519 | K>N | No |
ClinGen gnomAD |
|
|
CA356260409 rs1187083675 |
520 | R>K | No |
ClinGen TOPMed |
|
|
rs1366611086 CA356260408 |
520 | R>W | No |
ClinGen TOPMed |
|
|
rs1235775994 CA356260431 |
523 | Y>C | No |
ClinGen gnomAD |
|
|
CA2852163 rs772249698 |
523 | Y>D | No |
ClinGen ExAC gnomAD |
|
|
rs747428817 CA2852165 |
524 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747428817 CA356260435 |
524 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2852166 rs771484841 |
525 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1579074368 CA356260454 |
526 | S>R | No |
ClinGen Ensembl |
|
|
rs776798194 CA356260458 |
527 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs776798194 CA2852167 |
527 | R>T | No |
ClinGen ExAC gnomAD |
|
|
rs765644915 CA2852169 |
528 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2852168 rs373670199 |
528 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs141272791 CA92135749 |
529 | G>A | No |
ClinGen ESP ExAC gnomAD |
|
|
rs896829920 CA92135745 |
529 | G>S | No |
ClinGen Ensembl |
|
|
rs141272791 CA2852170 |
529 | G>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA2852172 rs766971175 |
531 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs556068441 CA2852171 |
531 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA356260487 rs369953073 |
532 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2852174 rs369953073 |
532 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA356260511 rs1366112120 |
533 | S>R | No |
ClinGen gnomAD |
|
|
rs753785110 CA2852176 |
534 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2852175 rs150763499 |
534 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs776190534 CA2852178 |
535 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs748343108 CA2852179 |
536 | G>V | No |
ClinGen ExAC gnomAD |
|
|
COSM1310330 rs35357682 CA2852180 |
537 | W>C | urinary_tract [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA2852181 rs777660597 |
538 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA2852183 rs770987620 |
543 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA2852184 rs149894820 |
544 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2852185 rs746418782 |
544 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA2852186 rs770110030 |
548 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs1420270441 CA356260687 |
549 | G>S | No |
ClinGen gnomAD |
|
|
rs116520581 CA92135946 |
550 | S>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1235400767 CA356260716 |
550 | S>N | No |
ClinGen gnomAD |
|
|
rs116520581 CA2852188 |
550 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA356260722 rs1579074591 |
550 | S>R | No |
ClinGen Ensembl |
|
|
rs572067146 CA2852190 |
551 | A>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs771767081 CA2852189 |
551 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs572067146 CA2852191 |
551 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1274696789 CA356260754 |
553 | H>R | No |
ClinGen Ensembl |
|
|
rs542708703 CA2852192 |
553 | H>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 554 | C>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs74762812 CA356260796 |
555 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs372502016 CA356260801 |
556 | G>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2852194 rs372502016 |
556 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA2852195 rs143157011 |
557 | Q>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1560236924 CA356260840 |
559 | A>T | No |
ClinGen Ensembl |
|
|
CA2852196 rs752556439 |
559 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356260873 rs146646171 |
562 | A>S | No |
ClinGen ESP TOPMed |
|
|
CA2852198 rs146646171 |
562 | A>T | No |
ClinGen ESP TOPMed |
|
|
CA356260896 rs778056581 |
564 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA2852200 rs778056581 |
564 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA2852201 rs141406474 |
565 | G>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1487870915 CA356260906 CA356260904 |
565 | G>R | No |
ClinGen gnomAD |
|
|
CA2852203 rs757333808 |
569 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs373859052 CA2852204 |
571 | W>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA356261005 rs1560236997 |
572 | A>D | No |
ClinGen Ensembl |
|
|
rs532797174 CA2852207 |
573 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA92136068 rs976772291 |
574 | E>G | No |
ClinGen gnomAD |
|
|
rs1159838156 CA356261022 |
574 | E>K | No |
ClinGen gnomAD |
|
|
rs1046556434 CA356261040 |
575 | H>P | No |
ClinGen TOPMed gnomAD |
|
|
CA92136079 rs1046556434 |
575 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs749656805 CA2852209 |
575 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA356261056 rs1341917046 |
576 | G>R | No |
ClinGen gnomAD |
|
|
rs1400790543 CA356261109 |
580 | Q>H | No |
ClinGen gnomAD |
|
|
CA356261114 rs1224951482 |
581 | A>P | No |
ClinGen gnomAD |
|
|
rs768968072 CA2852212 |
581 | A>V | No |
ClinGen ExAC |
|
|
rs375774216 CA356261138 |
582 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2852214 rs541072801 |
582 | E>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2852216 rs559673729 |
583 | G>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs765272271 CA2852218 |
584 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs759491092 CA2852217 |
584 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA356261167 rs752752419 |
585 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752752419 CA2852219 |
585 | W>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356261162 rs1579074945 |
585 | W>G | No |
ClinGen Ensembl |
|
|
CA356261208 rs1179334197 |
588 | G>V | No |
ClinGen gnomAD |
|
|
rs565699312 CA2852221 |
590 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751769169 CA2852222 |
590 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA92136161 rs565699312 |
590 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199651886 CA2852223 |
591 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2852225 rs530154260 |
593 | E>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2852226 rs376046428 |
595 | A>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1448354416 CA356261288 |
595 | A>P | No |
ClinGen gnomAD |
|
|
rs1025484007 CA92136224 |
596 | E>G | No |
ClinGen TOPMed |
|
|
CA2852227 COSM1753861 rs151291552 COSM1753859 |
597 | R>C | urinary_tract [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs201920958 COSM1198841 CA2852228 |
597 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs201920958 CA92136246 |
597 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 601 | C>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2852229 rs571460571 |
601 | C>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA92136261 rs964231931 |
603 | A>D | No |
ClinGen TOPMed |
|
|
CA92136252 rs374840681 |
603 | A>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs374840681 CA92136251 |
603 | A>T | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA2852231 rs779176903 |
605 | P>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
COSM448251 rs746624652 CA2852232 |
606 | R>* | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA2852233 rs367552135 |
606 | R>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
CA2852234 rs371817333 |
608 | F>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371817333 CA2852235 |
608 | F>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2852236 rs538896665 |
610 | D>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA356261400 rs1343270708 |
611 | Q>H | No |
ClinGen Ensembl |
|
|
rs1196104556 CA356261420 |
614 | L>F | No |
ClinGen gnomAD |
|
|
CA356261423 rs1378701267 |
615 | Q>* | No |
ClinGen gnomAD |
|
|
rs1171113445 CA356261436 |
617 | A>P | No |
ClinGen gnomAD |
|
|
CA2852238 rs762833789 |
617 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1296398669 CA356261445 |
618 | N>I | No |
ClinGen TOPMed |
|
|
rs1441308445 CA356261452 |
619 | L>S | No |
ClinGen TOPMed |
|
|
rs774035564 CA2852240 |
620 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2852242 rs767729387 |
624 | K>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs750708824 CA2852243 |
625 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2852246 rs754331368 |
626 | L>* | No |
ClinGen ExAC gnomAD |
|
|
CA356261507 rs1456543846 |
628 | T>A | No |
ClinGen gnomAD |
|
|
CA2852248 rs369514598 |
628 | T>K | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs779280245 CA2852250 |
629 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356261518 rs1268670474 |
630 | S>G | No |
ClinGen gnomAD |
|
|
CA92136458 rs1052092927 |
632 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
rs748467498 CA356261532 |
632 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2852251 COSM1431453 rs748467498 |
632 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA2852252 rs758866424 |
634 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2852253 rs780982245 |
635 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs913597472 CA92136512 |
640 | N>D | No |
ClinGen TOPMed |
|
|
VAR_066603 CA2852258 rs150441746 |
641 | G>A | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs769401976 CA2852256 CA356261591 |
641 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769401976 CA2852257 |
641 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1579080037 CA356261724 |
644 | S>G | No |
ClinGen Ensembl |
|
|
rs138383736 CA2852303 |
645 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA356261743 rs1467372987 |
646 | S>F | No |
ClinGen gnomAD |
|
|
CA356261738 rs1358436774 |
646 | S>P | No |
ClinGen gnomAD |
|
|
rs1303706271 CA356261753 |
648 | A>T | No |
ClinGen gnomAD |
|
|
CA356261780 rs1311482809 |
650 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs778526774 CA2852306 |
650 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs559920426 CA92139993 |
651 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA2852307 rs559920426 |
651 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs1240111471 CA356261796 |
652 | N>S | No |
ClinGen gnomAD |
|
|
CA2852309 rs753717677 |
653 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs753717677 CA356261802 |
653 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA92140034 rs373296548 |
654 | L>P | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA356261821 rs1229835682 |
655 | D>A | No |
ClinGen TOPMed |
|
|
CA2852310 rs375450341 |
655 | D>Y | No |
ClinGen ESP ExAC gnomAD |
|
|
rs146322919 CA2852311 |
656 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 657 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1457798532 CA356261855 |
658 | T>A | No |
ClinGen gnomAD |
|
|
rs769717448 CA2852314 |
658 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA2852317 rs764705950 |
660 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs138949000 CA2852315 |
660 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2852318 rs149314248 |
662 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 663 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs144554065 CA92140127 |
664 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1242072 CA2852321 rs144554065 |
664 | R>Q | oesophagus [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA92140096 rs934529402 |
664 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA356261922 rs1579080278 |
665 | E>G | No |
ClinGen Ensembl |
|
|
rs753402957 CA356261928 |
666 | C>G | No |
ClinGen ExAC gnomAD |
|
|
CA2852322 rs753402957 |
666 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA2852323 rs754690892 |
666 | C>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2852324 CA92140165 rs148022470 |
667 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs148022470 CA356261938 |
667 | G>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2852325 rs752206584 |
668 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1207539527 CA356262207 |
670 | Q>* | No |
ClinGen gnomAD |
|
|
rs1579080323 CA356262211 |
670 | Q>P | No |
ClinGen Ensembl |
|
|
CA2852326 rs201840371 |
671 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA356262225 rs201840371 |
671 | T>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs746994879 CA2852328 |
673 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA356262253 rs746024605 |
674 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA2852331 rs746024605 |
674 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA2852330 rs371628364 |
674 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1197458743 CA356262257 |
675 | N>D | No |
ClinGen gnomAD |
|
|
CA2852332 rs770072439 |
675 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs775648793 CA2852333 |
676 | S>R | No |
ClinGen ExAC |
|
|
rs141733917 CA2852334 |
678 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2852335 rs768917574 |
680 | F>L | No |
ClinGen ExAC TOPMed |
|
|
CA2852336 rs774978191 |
681 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2852371 rs754075003 |
682 | V>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA2852372 rs755273982 |
683 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs371865161 CA2852374 |
690 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA92145064 rs989786284 |
690 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs989786284 CA356262594 |
690 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA356262596 rs772101499 |
691 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA2852376 rs772101499 |
691 | D>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA2852377 rs778320412 |
692 | W>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747508783 CA2852378 |
693 | R>* | No |
ClinGen ExAC TOPMed |
|
|
CA2852381 rs145982044 |
693 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2852380 rs145982044 |
693 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA356262635 rs1313675034 |
695 | E>K | No |
ClinGen gnomAD |
|
|
CA2852382 rs762530826 |
696 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA356262661 rs1242277599 |
697 | L>P | No |
ClinGen gnomAD |
|
|
rs768451950 CA2852384 |
698 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2852383 rs768306299 |
698 | W>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA92145111 rs922351404 |
699 | K>N | No |
ClinGen Ensembl |
|
|
rs1410933433 CA356262694 |
701 | K>E | No |
ClinGen TOPMed |
|
|
CA2852385 rs761375759 |
702 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs139858049 CA2852386 |
703 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs139858049 CA92145132 |
703 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2852388 rs571853951 |
705 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA92145144 rs897864307 |
707 | Q>* | No |
ClinGen TOPMed |
|
|
CA356262755 rs897864307 |
707 | Q>E | No |
ClinGen TOPMed |
|
|
CA356262764 rs1174614081 |
708 | R>T | No |
ClinGen gnomAD |
|
|
rs993908291 CA92145151 |
709 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
rs754886677 CA2852393 |
710 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs143197253 CA2852394 |
710 | L>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 711 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA356262793 rs1439772076 |
712 | E>K | No |
ClinGen gnomAD |
|
|
rs1276345547 CA356262807 |
713 | A>S | No |
ClinGen gnomAD |
|
|
CA356262828 rs1256779583 |
715 | K>E | No |
ClinGen TOPMed |
|
|
CA356262839 rs777744376 |
716 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs777744376 CA2852397 |
716 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA2852398 rs368618888 |
717 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2852399 rs372924806 |
717 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1278278874 CA356262854 |
718 | L>P | No |
ClinGen TOPMed |
|
|
CA2852401 rs746230757 |
719 | C>F | No |
ClinGen ExAC gnomAD |
|
|
CA356262876 rs1201505430 |
720 | W>* | No |
ClinGen gnomAD |
|
|
CA356262869 rs1436524676 |
720 | W>G | No |
ClinGen gnomAD |
|
|
rs770206294 CA2852402 |
721 | F>V | No |
ClinGen ExAC gnomAD |
|
|
rs554381265 CA2852403 |
721 | F>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs772621814 CA2852406 |
723 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs761415220 CA2852404 |
723 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1285983483 CA356262902 |
723 | M>T | No |
ClinGen TOPMed |
|
|
rs761415220 CA2852405 |
723 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356262910 rs1170705080 |
724 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA356262907 rs1466738532 |
724 | H>Y | No |
ClinGen gnomAD |
|
|
CA2852407 rs140189596 |
726 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA356262933 rs1019851119 |
727 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA356262927 rs1560244162 |
727 | D>N | No |
ClinGen Ensembl |
|
|
rs766424110 CA2852409 |
727 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs1331521146 CA356262938 |
728 | G>D | No |
ClinGen gnomAD |
|
|
CA356262935 rs1358370150 |
728 | G>S | No |
ClinGen TOPMed |
|
|
CA356262942 rs1281616587 |
729 | C>R | No |
ClinGen gnomAD |
|
|
CA356262947 rs149839043 |
729 | C>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2852411 rs145864385 |
730 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2852413 rs144590076 |
731 | L>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs957854308 CA92145240 |
732 | S>F | No |
ClinGen Ensembl |
|
|
rs758569191 CA2852414 |
733 | T>M | No |
ClinGen ExAC gnomAD |
|
|
CA92145252 rs975544986 |
735 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs375862185 CA356262992 |
737 | P>A | No |
ClinGen ESP ExAC gnomAD |
|
|
rs576421639 CA2852416 |
737 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs576421639 CA2852417 |
737 | P>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs375862185 CA2852415 |
737 | P>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA2852419 rs746426692 |
739 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA356263010 rs780314671 |
740 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA2852421 rs780314671 |
740 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1391277656 CA356263020 |
741 | G>E | No |
ClinGen gnomAD |
|
|
rs565382886 CA2852422 |
742 | P>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs565382886 CA2852423 |
742 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA92145301 rs976833653 |
742 | P>S | No |
ClinGen TOPMed |
|
|
CA2852426 rs34867053 |
743 | A>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs772712761 CA2852424 |
743 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2852425 COSM1642533 rs34867053 |
743 | A>V | stomach [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA2852428 rs147700349 |
744 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA92145326 rs142914666 |
744 | E>K | No |
ClinGen ESP TOPMed |
|
|
rs527463713 CA2852431 |
746 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs764214430 CA2852432 |
746 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs527463713 CA2852430 |
746 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs751841823 CA2852434 |
747 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA356263068 rs1386424343 |
748 | P>R | No |
ClinGen TOPMed |
|
|
rs1220749591 CA356263066 |
748 | P>S | No |
ClinGen gnomAD |
|
|
CA2852436 rs549307102 |
749 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 749 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2852437 rs750892554 COSM368866 |
749 | R>Q | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs549307102 CA2852435 |
749 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1369140649 CA356263078 |
750 | T>A | No |
ClinGen TOPMed |
|
|
CA356263084 rs1205410394 |
750 | T>I | No |
ClinGen gnomAD |
|
|
rs1426291965 CA356263090 |
751 | T>I | No |
ClinGen gnomAD |
|
|
rs756638090 CA2852439 |
752 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356263109 rs1189664370 |
753 | R>S | No |
ClinGen TOPMed |
|
|
CA356263103 rs1422349904 |
753 | R>T | No |
ClinGen TOPMed |
|
|
rs749619567 CA2852442 |
754 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA2852444 rs777268692 |
755 | K>N | No |
ClinGen ExAC gnomAD |
|
| rs759526283 | 755 | K>missing | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA356263123 rs1466545515 |
755 | K>E | No |
ClinGen TOPMed |
|
|
CA2852443 rs755437954 |
755 | K>M | No |
ClinGen ExAC gnomAD |
|
|
rs1288577065 CA356263132 |
756 | I>V | No |
ClinGen gnomAD |
|
|
CA356263143 rs1382979507 |
757 | S>A | No |
ClinGen gnomAD |
|
|
rs1176556107 CA356263150 |
758 | S>R | No |
ClinGen gnomAD |
No associated diseases with Q8IYL2
1 regional properties for Q8IYL2
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Zinc finger, CCCH-type | 713 - 743 | IPR000571 |
Functions
| Description | ||
|---|---|---|
| EC Number | 2.1.1.211 | Methyltransferases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
1 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| metal ion binding | Binding to a metal ion. |
| tRNA (uracil) methyltransferase activity | Catalysis of the transfer of a methyl group from a donor to a uracil residue in a tRNA molecule. |
| tRNA (uracil-2'-O-)-methyltransferase activity | Catalysis of the reaction: S-adenosyl-L-methionine + tRNA = S-adenosyl-L-homocysteine + tRNA containing 2'-O-methyluracil. |
1 GO annotations of biological process
| Name | Definition |
|---|---|
| tRNA methylation | The posttranscriptional addition of methyl groups to specific residues in a tRNA molecule. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q9D2Q2 | Trmt44 | Probable tRNA (uracil-O(2)-)-methyltransferase | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAEVGRTGIS | YPGALLPQGF | WAAVEVWLER | PQVANKRLCG | ARLEARWSAA | LPCAEARGPG |
| 70 | 80 | 90 | 100 | 110 | 120 |
| TSAGSEQKER | GPGPGQGSPG | GGPGPRSLSG | PEQGTACCEL | EEAQGQCQQE | EAQREAASVP |
| 130 | 140 | 150 | 160 | 170 | 180 |
| LRDSGHPGHA | EGREGDFPAA | DLDSLWEDFS | QSLARGNSEL | LAFLTSSGAG | SQPEAQRELD |
| 190 | 200 | 210 | 220 | 230 | 240 |
| VVLRTVIPKT | SPHCPLTTPR | REIVVQDVLN | GTITFLPLEE | DDEGNLKVKM | SNVYQIQLSH |
| 250 | 260 | 270 | 280 | 290 | 300 |
| SKEEWFISVL | IFCPERWHSD | GIVYPKPTWL | GEELLAKLAK | WSVENKKSDF | KSTLSLISIM |
| 310 | 320 | 330 | 340 | 350 | 360 |
| KYSKAYQELK | EKYKEMVKVW | PEVTDPEKFV | YEDVAIAAYL | LILWEEERAE | RRLTARQSFV |
| 370 | 380 | 390 | 400 | 410 | 420 |
| DLGCGNGLLV | HILSSEGHPG | RGIDVRRRKI | WDMYGPQTQL | EEDAITPNDK | TLFPDVDWLI |
| 430 | 440 | 450 | 460 | 470 | 480 |
| GNHSDELTPW | IPVIAARSSY | NCRFFVLPCC | FFDFIGRYSR | RQSKKTQYRE | YLDFIKEVGF |
| 490 | 500 | 510 | 520 | 530 | 540 |
| TCGFHVDEDC | LRIPSTKRVC | LVGKSRTYPS | SREASVDEKR | TQYIKSRRGC | PVSPPGWELS |
| 550 | 560 | 570 | 580 | 590 | 600 |
| PSPRWVAAGS | AGHCDGQQAL | DARVGCVTRA | WAAEHGAGPQ | AEGPWLPGFH | PREKAERVRN |
| 610 | 620 | 630 | 640 | 650 | 660 |
| CAALPRDFID | QVVLQVANLL | LGGKQLNTRS | SRNGSLKTWN | GGESLSLAEV | ANELDTETLR |
| 670 | 680 | 690 | 700 | 710 | 720 |
| RLKRECGGLQ | TLLRNSHQVF | QVVNGRVHIR | DWREETLWKT | KQPEAKQRLL | SEACKTRLCW |
| 730 | 740 | 750 | |||
| FFMHHPDGCA | LSTDCCPFAH | GPAELRPPRT | TPRKKIS |