Q8N6R0
PR
Gene name |
METTL13 |
Protein name |
eEF1A lysine and N-terminal methyltransferase |
Names |
Human neutrophil alloantigen 2a, HNA-2a, NB1 glycoprotein, NB1 GP, Polycythemia rubra vera protein 1, PRV-1, eEF1A-KNMT, Methyltransferase-like protein 13 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:51603 |
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
2 structures for Q8N6R0
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 5WCJ | X-ray | 170 A | A | 470-699 | PDB |
| AF-Q8N6R0-F1 | Predicted | AlphaFoldDB |
562 variants for Q8N6R0
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
VAR_080810 CA1244930 rs145666727 RCV000678256 |
544 | R>Q | Deafness, autosomal recessive 26, modifier of acts as suppressor of deafness and is associated with normal hearing in individuals homozygous for a deafness-associated mutation in the GAB1 gene [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA343717707 rs1571161562 |
2 | N>S | No |
ClinGen Ensembl |
|
|
rs745539182 CA1244526 |
3 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA343717742 rs1442027133 |
5 | P>L | No |
ClinGen TOPMed |
|
|
CA1244528 rs775446520 |
7 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1364119809 CA343717785 |
9 | R>G | No |
ClinGen gnomAD |
|
|
rs1404180286 CA343717840 |
13 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1404180286 CA343717841 |
13 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs955535992 CA32668301 |
14 | V>F | No |
ClinGen TOPMed |
|
|
rs764164360 CA1244530 |
15 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA1244531 VAR_064730 rs774565178 COSM51861 |
16 | Y>C | kidney found in a renal cell carcinoma sample; somatic mutation [Cosmic, UniProt] | No |
ClinGen cosmic curated UniProt ExAC dbSNP gnomAD |
| TCGA novel | 18 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA32668316 rs11557141 |
18 | E>G | No |
ClinGen Ensembl |
|
|
CA1244532 rs762038902 |
22 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA343717989 rs1317840033 |
24 | R>* | No |
ClinGen gnomAD |
|
| TCGA novel | 24 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1244534 rs767644590 |
25 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1352752414 CA343718014 |
26 | K>E | No |
ClinGen TOPMed |
|
|
rs751437782 CA32668349 |
26 | K>R | No |
ClinGen gnomAD |
|
|
rs750027664 CA1244536 |
28 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA32668376 rs750027664 |
28 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA1244535 rs750027664 |
28 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs368751643 CA1244537 |
28 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs754243251 CA343718066 |
29 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343718059 rs1479634806 |
29 | F>S | No |
ClinGen gnomAD |
|
|
CA343718096 rs1250988189 |
31 | W>C | No |
ClinGen gnomAD |
|
|
CA1244539 rs1553264586 |
32 | Y>C | No |
ClinGen Ensembl |
|
|
rs1345561277 CA343718132 |
34 | T>A | No |
ClinGen TOPMed |
|
|
rs755473663 CA1244541 |
34 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA1244543 rs753216256 |
37 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA343718202 rs1440669133 |
40 | G>R | No |
ClinGen gnomAD |
|
|
rs1440669133 CA343718205 |
40 | G>W | No |
ClinGen gnomAD |
|
|
rs1386903658 CA343718217 |
41 | V>L | No |
ClinGen TOPMed |
|
|
rs182276184 CA1244546 |
43 | H>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs779961798 CA1244548 |
44 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749159712 CA1244549 |
45 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1305197678 CA343718290 |
46 | I>M | No |
ClinGen gnomAD |
|
|
CA1244552 rs761845889 |
48 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs1433886958 CA343718318 |
49 | R>G | No |
ClinGen TOPMed |
|
|
rs1267868985 CA343718340 |
50 | E>G | No |
ClinGen gnomAD |
|
|
CA1244554 rs771999658 |
50 | E>K | No |
ClinGen ExAC |
|
|
CA1244555 rs773393140 |
51 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1191936299 CA343718359 |
51 | K>N | No |
ClinGen gnomAD |
|
|
CA343718353 rs1185017732 |
51 | K>R | No |
ClinGen TOPMed |
|
|
CA1244571 rs748017579 |
56 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773162988 CA1244573 |
57 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1288946786 CA343719278 |
60 | S>L | No |
ClinGen gnomAD |
|
|
rs374932248 CA1244574 |
62 | L>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1341171502 CA343719409 |
67 | Y>D | No |
ClinGen TOPMed |
|
|
COSM899610 CA343719444 rs1243125495 |
69 | V>M | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA343719493 rs771013492 |
71 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1244575 rs771013492 |
71 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343719491 rs771013492 |
71 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776767189 CA343719501 |
72 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA32669963 rs369341707 |
72 | R>Q | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA1244576 rs776767189 |
72 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs555556562 CA32669986 |
74 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs555556562 CA1244577 |
74 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1244578 rs765536663 |
77 | I>V | No |
ClinGen ExAC gnomAD |
|
|
COSM207971 CA1244580 rs763335545 |
78 | D>N | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1181820632 CA343719623 |
80 | S>G | No |
ClinGen gnomAD |
|
|
CA32670020 rs974917866 |
83 | V>A | No |
ClinGen TOPMed |
|
|
rs764725974 CA1244581 |
83 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA343719671 rs1422038949 |
84 | I>F | No |
ClinGen TOPMed |
|
|
rs749884051 CA1244582 |
85 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
TCGA novel rs1406157281 CA343719716 |
87 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen gnomAD NCI-TCGA |
|
CA32670034 rs899185289 |
89 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA32670046 rs755589575 |
90 | C>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755589575 CA1244583 |
90 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1244584 rs765988287 |
92 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753496251 CA1244585 |
93 | T>A | No |
ClinGen ExAC gnomAD |
|
|
COSM1286166 rs778822022 CA1244588 |
94 | R>* | Variant assessed as Somatic; 0.0 impact. autonomic_ganglia [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA1244587 rs778822022 |
94 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1045158754 CA32670077 |
94 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA1244590 rs201725895 |
95 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1244589 rs150575910 |
95 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA32670122 rs1057388566 |
98 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs564128406 CA1244593 |
102 | K>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA343719927 rs1558129017 |
103 | M>I | No |
ClinGen Ensembl |
|
|
rs1201878548 CA343719918 |
103 | M>V | No |
ClinGen gnomAD |
|
|
CA1244595 rs2232816 VAR_034040 |
105 | M>V | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA1244596 rs372467785 |
106 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs764377663 CA1244598 |
107 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
rs774852088 CA1244599 |
111 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM3789092 rs774852088 CA343720018 |
111 | P>S | Variant assessed as Somatic; impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA32670187 rs948807389 |
112 | D>E | No |
ClinGen TOPMed |
|
|
COSM899612 CA1244600 rs762437555 |
114 | S>L | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA32670206 rs968379221 |
116 | Q>R | No |
ClinGen TOPMed |
|
|
CA343720083 rs1175121773 |
117 | V>L | No |
ClinGen gnomAD |
|
| TCGA novel | 118 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA343720117 rs1402209615 |
120 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs754676208 CA1244603 |
124 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1000228900 CA343720173 |
125 | D>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1000228900 CA32670251 |
125 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1221842532 CA343720199 |
127 | V>A | No |
ClinGen gnomAD |
|
|
rs746915040 CA1244608 |
129 | T>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 132 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 134 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1437739843 CA343720294 |
135 | T>N | No |
ClinGen gnomAD |
|
|
rs781215535 CA1244610 |
137 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1244612 rs201975819 |
139 | V>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 141 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs376246493 CA343720355 |
144 | A>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1244614 rs548168240 |
144 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs376246493 CA1244615 |
144 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA343720360 rs774631938 |
145 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1244616 rs774631938 |
145 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA32670405 rs371404027 |
146 | V>A | No |
ClinGen ESP TOPMed |
|
|
CA343720367 rs371404027 |
146 | V>D | No |
ClinGen ESP TOPMed |
|
|
CA1244617 rs530716487 |
148 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA1244618 rs772025024 |
148 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA343720378 rs772025024 |
148 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA32670437 rs912065783 |
149 | V>I | No |
ClinGen Ensembl |
|
|
CA343720388 rs1300933607 |
150 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
rs764660019 CA1244621 |
151 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs1342110346 CA343720409 |
154 | G>S | No |
ClinGen gnomAD |
|
|
CA1244623 rs373455201 |
155 | R>C | No |
ClinGen ESP ExAC |
|
|
rs1206408488 CA343720416 |
155 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA343720427 rs1196286869 |
157 | L>I | No |
ClinGen Ensembl |
|
|
rs1489977787 CA343720443 |
159 | I>F | No |
ClinGen gnomAD |
|
|
CA343720444 rs1420932280 |
159 | I>N | No |
ClinGen TOPMed |
|
| TCGA novel | 161 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA343720491 rs1480651914 |
166 | I>T | No |
ClinGen TOPMed |
|
|
rs1198916058 CA343720488 |
166 | I>V | No |
ClinGen TOPMed |
|
|
CA343720512 rs1191419167 |
169 | K>N | No |
ClinGen TOPMed |
|
|
CA1244626 rs757179661 |
169 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA343720516 rs1450019832 |
170 | A>T | No |
ClinGen gnomAD |
|
|
CA343720525 rs1485543673 |
171 | V>G | No |
ClinGen TOPMed |
|
|
CA1244627 rs61733148 |
172 | G>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA343720535 rs1309904691 |
173 | H>R | No |
ClinGen TOPMed |
|
|
CA1244628 rs750370447 |
174 | F>C | No |
ClinGen ExAC gnomAD |
|
|
rs756117113 CA1244629 |
174 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs780024228 CA1244630 |
175 | S>P | No |
ClinGen ExAC gnomAD |
|
|
COSM1336252 rs749473716 CA1244631 |
176 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs900150189 CA32670506 |
176 | R>W | No |
ClinGen TOPMed |
|
|
CA1244632 rs768804578 |
177 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1316312402 CA343720562 |
178 | G>R | No |
ClinGen gnomAD |
|
|
CA1244633 rs531115808 |
179 | W>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 179 | W>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1244634 rs142277500 |
181 | V>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1571163406 CA343720604 |
184 | H>P | No |
ClinGen Ensembl |
|
|
CA1244637 rs761295249 |
185 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA343720618 rs1202941358 |
186 | V>A | No |
ClinGen gnomAD |
|
|
rs774911920 CA1244639 CA32670595 |
186 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA1244640 rs762636137 |
187 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs917531333 CA32670601 |
187 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1189907216 CA343720630 |
188 | N>K | No |
ClinGen gnomAD |
|
|
CA1244641 rs763718769 |
188 | N>T | No |
ClinGen ExAC gnomAD |
|
|
rs1431717986 CA343720636 |
189 | S>I | No |
ClinGen TOPMed |
|
|
rs1383363827 CA343720637 |
189 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA343720657 rs1262395402 |
192 | Q>* | No |
ClinGen TOPMed |
|
|
CA1244643 rs150628966 |
192 | Q>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1165262244 CA343720659 |
192 | Q>R | No |
ClinGen gnomAD |
|
|
CA1244645 rs767302217 |
193 | V>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 196 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1244646 rs150322704 |
199 | Q>* | No |
ClinGen ESP ExAC gnomAD |
|
|
CA1244648 rs756024172 |
201 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1244649 rs756024172 |
201 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1244651 rs755217222 |
203 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778304662 CA1244655 |
208 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1244654 rs772528089 |
208 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA32670684 rs563829048 |
209 | M>V | No |
ClinGen TOPMed |
|
|
CA32670699 rs930723027 |
210 | T>A | No |
ClinGen TOPMed |
|
|
CA32670705 rs895662667 |
210 | T>N | No |
ClinGen gnomAD |
|
|
CA343720931 rs895662667 |
210 | T>S | No |
ClinGen gnomAD |
|
|
rs768046418 CA32670719 |
211 | K>M | No |
ClinGen Ensembl |
|
|
CA1244658 rs775060911 |
213 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1296945112 CA343720953 |
213 | R>S | No |
ClinGen TOPMed |
|
|
rs1041658283 CA32670753 |
214 | P>L | No |
ClinGen Ensembl |
|
|
CA1244659 rs748804851 |
216 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs768223875 CA1244660 |
216 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA343720972 rs1258163113 |
217 | G>D | No |
ClinGen gnomAD |
|
|
rs773923048 CA343720982 |
219 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1244661 rs773923048 |
219 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1244662 rs761481739 |
219 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs773037113 CA1244664 |
221 | Q>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA343720994 rs1408642153 |
221 | Q>R | No |
ClinGen TOPMed |
|
|
rs1161503150 CA343720999 |
222 | I>V | No |
ClinGen gnomAD |
|
|
rs1403928640 CA343721011 |
223 | F>L | No |
ClinGen gnomAD |
|
|
rs1040684477 CA32670842 |
223 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
rs138897333 CA32670875 |
226 | C>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1244665 rs138897333 |
226 | C>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA32670877 rs900449066 |
227 | A>V | No |
ClinGen TOPMed |
|
|
CA1244666 rs766288742 |
228 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs766288742 CA343721037 |
228 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA343721047 rs1172464941 |
229 | E>A | No |
ClinGen TOPMed |
|
|
CA1244667 rs376893557 |
230 | Q>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA32670904 rs2232817 |
230 | Q>R | No |
ClinGen TOPMed |
|
|
rs761239304 CA1244668 |
231 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1244669 rs765441059 |
231 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA1244671 rs370263614 |
233 | P>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA32670928 rs370263614 |
233 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs757767470 CA1244674 |
234 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs778251374 CA1244673 |
234 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1244672 rs778251374 |
234 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs138113758 CA1244676 |
235 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
COSM1165181 rs535480986 CA1244675 |
235 | R>W | Variant assessed as Somatic; 0.0 impact. liver large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs1252223537 CA343721082 |
236 | L>P | No |
ClinGen gnomAD |
|
|
CA343721088 rs1480517059 |
237 | E>A | No |
ClinGen TOPMed |
|
|
CA1244677 rs768009336 |
238 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773869569 CA1244679 |
239 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA343721105 rs760332211 |
240 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760332211 COSM1336253 CA1244683 |
240 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA32670968 rs759542643 |
241 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA1244686 rs759542643 |
241 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs377601885 CA1244685 |
241 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA343721119 rs1281053132 |
243 | A>T | No |
ClinGen gnomAD |
|
|
rs920757130 CA32670977 |
244 | E>D | No |
ClinGen TOPMed |
|
|
rs138801618 CA1244688 |
244 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs150630686 CA1244689 |
245 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs751818120 CA1244691 |
247 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs981030591 CA32671039 |
249 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs781641502 CA1244693 |
249 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA343721162 rs1245252411 |
250 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1245252411 CA343721161 |
250 | Q>E | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 252 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1244695 rs370974380 |
253 | A>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1448223764 CA343721192 |
254 | W>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1190146204 CA343721207 |
256 | C>F | No |
ClinGen TOPMed gnomAD |
|
|
rs747718273 CA1244698 |
256 | C>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 257 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs771588127 CA1244699 |
259 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs777226189 CA1244700 |
260 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1436699357 CA343721232 |
260 | R>H | No |
ClinGen gnomAD |
|
|
CA1244701 rs746708716 |
261 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1244702 rs200794655 |
261 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1244703 rs200794655 |
261 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs769918452 CA1244705 |
262 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA32671176 rs529325033 |
263 | A>T | No |
ClinGen Ensembl |
|
|
CA343721250 rs1243530527 |
264 | R>G | No |
ClinGen gnomAD |
|
|
CA32671199 rs878939583 |
265 | L>R | No |
ClinGen Ensembl |
|
|
CA343721264 rs1309381197 |
266 | G>E | No |
ClinGen TOPMed |
|
|
rs764272823 CA1244708 |
267 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs900376340 CA32671215 |
268 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1050334094 CA32671232 |
269 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs751687945 CA1244709 |
269 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs750837677 CA343721311 |
274 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1244713 rs750837677 |
274 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1161859966 CA343721314 |
274 | D>V | No |
ClinGen gnomAD |
|
|
rs750837677 CA1244712 |
274 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1413438447 CA343721320 |
275 | G>E | No |
ClinGen gnomAD |
|
|
CA1244714 rs780483296 |
276 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343721328 rs1453831472 |
276 | D>V | No |
ClinGen TOPMed |
|
|
CA343721324 rs1157542086 |
276 | D>Y | No |
ClinGen TOPMed |
|
|
rs754351572 CA343721333 |
277 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754351572 CA1244715 |
277 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777365654 CA1244717 |
278 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343721344 rs1571163896 |
279 | E>G | No |
ClinGen Ensembl |
|
|
CA343721349 rs1571163903 |
280 | P>T | No |
ClinGen Ensembl |
|
|
CA1244718 rs746619769 |
281 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs371406091 CA1244719 |
281 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
rs761268418 CA32671315 |
283 | T>I | No |
ClinGen gnomAD |
|
|
rs1450278419 CA343721366 |
283 | T>P | No |
ClinGen gnomAD |
|
|
rs903545860 CA32671325 |
284 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA1244721 rs780845986 |
285 | H>R | No |
ClinGen ExAC |
|
|
CA1244724 rs367632340 |
290 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA343721424 rs1221850335 |
292 | V>M | No |
ClinGen TOPMed |
|
|
CA1244726 rs768565654 |
295 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs61733149 CA1244729 |
296 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM261981 CA1244728 rs202234390 |
296 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA1244730 rs750626931 |
298 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1409339622 CA343721466 |
299 | H>Y | No |
ClinGen gnomAD |
|
|
CA1244731 rs760964626 |
301 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1244732 rs766764881 |
304 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA343721523 rs1571165047 |
305 | I>N | No |
ClinGen Ensembl |
|
|
CA1244733 rs754298266 |
305 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA343721530 rs1558130135 |
306 | P>S | No |
ClinGen Ensembl |
|
|
rs756717714 CA1244756 |
309 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1244755 rs377563868 |
309 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1558130149 CA343721595 |
311 | T>I | No |
ClinGen Ensembl |
|
|
rs766966787 CA1244757 |
311 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs750047637 CA1244758 |
312 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343721621 rs1322985354 |
313 | W>* | No |
ClinGen gnomAD |
|
|
CA343721716 rs1054416569 |
321 | R>G | No |
ClinGen TOPMed |
|
|
rs370155581 CA1244760 |
321 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA32672714 rs1054416569 |
321 | R>W | No |
ClinGen TOPMed |
|
|
CA1244762 rs754855347 |
325 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343721770 rs1253408629 |
326 | A>T | No |
ClinGen gnomAD |
|
|
rs1309790624 CA343721782 |
327 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1353829560 CA343721810 |
329 | G>V | No |
ClinGen gnomAD |
|
|
CA1244765 rs772146884 |
333 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA343721857 rs1571165134 |
333 | L>V | No |
ClinGen Ensembl |
|
|
rs140787689 CA1244766 |
334 | I>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA343721877 rs1484029832 |
334 | I>M | No |
ClinGen TOPMed |
|
| TCGA novel | 335 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1266644045 CA343721899 |
336 | V>A | No |
ClinGen TOPMed |
|
| TCGA novel | 337 | A>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1244769 rs776969720 |
340 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1244770 rs759889502 |
340 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA343721988 rs1162954615 |
344 | Y>C | No |
ClinGen gnomAD |
|
|
CA343721999 rs1328038614 |
345 | E>K | No |
ClinGen TOPMed |
|
|
CA343722012 rs1391680546 |
346 | S>G | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 346 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA343722027 rs1443255608 |
347 | M>V | No |
ClinGen gnomAD |
|
|
rs776024289 CA1244773 |
349 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343722083 rs1436380241 |
351 | Q>* | No |
ClinGen gnomAD |
|
|
rs200343786 CA32672803 |
355 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA32672821 rs923452637 COSM530524 |
357 | R>G | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA1244777 VAR_034041 rs2232819 CA1244778 |
359 | M>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD UniProt dbSNP |
|
|
CA1244776 rs201618453 |
359 | M>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA343722194 rs1465300285 |
361 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA1244779 rs149501332 |
365 | G>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1244780 rs149501332 |
365 | G>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA1244781 rs778599856 |
367 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs752661645 CA1244782 |
368 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs758308732 CA32672901 |
369 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA1244783 rs758308732 |
369 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs758308732 CA343722271 |
369 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA32672907 rs761905234 |
370 | Q>* | No |
ClinGen Ensembl |
|
|
CA32672908 rs917575202 |
370 | Q>H | No |
ClinGen Ensembl |
|
|
CA1244784 rs191078913 |
371 | Q>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA32674429 rs1050713037 |
372 | V>I | No |
ClinGen gnomAD |
|
|
rs765054734 CA1244798 |
377 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343722847 rs1307066832 |
378 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA1244799 rs752501644 |
378 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA343722908 rs1224987813 |
381 | I>T | No |
ClinGen gnomAD |
|
|
rs758319784 CA1244800 |
382 | G>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 383 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA343722943 rs1311542225 |
383 | V>F | No |
ClinGen gnomAD |
|
|
rs751504272 CA1244802 |
384 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA1244801 rs182855103 |
384 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs375233550 CA1244805 |
386 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA343723068 rs1481054497 |
389 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1339673407 CA343723099 |
391 | C>Y | No |
ClinGen TOPMed |
|
|
CA343723141 rs1423080285 |
393 | P>S | No |
ClinGen gnomAD |
|
|
rs769152897 CA1244809 |
396 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA1244808 rs201780730 |
396 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1025726967 CA32674509 |
397 | D>A | No |
ClinGen TOPMed |
|
|
rs994612616 CA32674505 |
397 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs201682767 CA1244811 |
398 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs770547118 CA1244812 |
400 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776049176 CA1244814 |
406 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs776049176 CA1244813 |
406 | D>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 407 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA343723417 rs1366364865 |
407 | D>N | No |
ClinGen gnomAD |
|
|
CA343723446 rs1304442218 |
408 | K>E | No |
ClinGen gnomAD |
|
|
CA1244816 rs775222517 |
408 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs762670834 CA1244817 |
409 | R>* | No |
ClinGen ExAC TOPMed |
|
|
rs145061447 CA1244818 |
409 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1018077867 CA32674561 |
410 | Y>F | No |
ClinGen TOPMed |
|
|
CA343723518 rs1274999532 |
412 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA1244820 rs375442520 |
412 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs963906263 CA32674581 |
413 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA1244821 rs767603573 |
413 | R>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 413 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1558131067 CA343723579 |
415 | I>V | No |
ClinGen Ensembl |
|
|
CA343723616 rs1308639529 |
417 | L>F | No |
ClinGen gnomAD |
|
|
CA32674623 rs971392904 |
419 | N>I | No |
ClinGen Ensembl |
|
|
CA343723738 rs1212429401 |
421 | N>S | No |
ClinGen TOPMed |
|
|
CA32674625 rs867562362 |
423 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA1244824 rs756342821 |
425 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs749526856 CA1244826 |
426 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA32674636 rs1031670881 |
426 | E>K | No |
ClinGen TOPMed |
|
|
rs1489679727 CA343723856 |
427 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs748637645 CA1244829 |
430 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA343723935 rs1362983562 |
432 | D>N | No |
ClinGen gnomAD |
|
|
rs139999454 CA1244830 |
435 | H>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1231813300 CA343723989 |
435 | H>Q | No |
ClinGen TOPMed |
|
|
rs139999454 CA32674663 |
435 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs776191727 CA1244831 |
436 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA343723995 rs1355422826 |
436 | K>Q | No |
ClinGen TOPMed |
|
|
rs370994642 CA32676628 |
438 | Q>P | No |
ClinGen ESP |
|
|
CA1244854 rs557534983 |
440 | K>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1244855 rs774116266 |
441 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1244857 rs771902051 |
441 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774116266 CA1244856 |
441 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772981009 CA1244859 |
443 | K>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 443 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766341647 CA1244860 |
444 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs979510875 CA32676668 |
448 | Q>R | No |
ClinGen TOPMed |
|
|
CA1244862 rs78779259 |
449 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs199675966 CA32676678 |
449 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA1244861 rs78779259 |
449 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs541143010 CA343725742 |
450 | P>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1244863 rs541143010 |
450 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1366046691 CA343725752 |
451 | A>V | No |
ClinGen TOPMed |
|
|
rs752973393 COSM899613 CA1244864 |
453 | A>V | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1410105847 CA343725819 |
457 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA32676691 rs527969903 |
458 | A>V | No |
ClinGen Ensembl |
|
|
CA32676697 rs985782557 |
459 | A>V | No |
ClinGen Ensembl |
|
|
CA1244867 rs144305462 COSM207973 |
460 | P>L | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA gnomAD |
|
CA1244868 rs757820923 |
461 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1416389188 CA343725874 |
462 | Q>R | No |
ClinGen gnomAD |
|
|
rs553027189 CA32676723 |
463 | S>A | No |
ClinGen 1000Genomes TOPMed |
|
|
rs574527250 CA32676724 |
463 | S>C | No |
ClinGen 1000Genomes TOPMed |
|
|
rs748855096 CA1244872 |
464 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs563872953 CA1244871 |
464 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
CA1244873 rs768165218 |
465 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343725902 rs1227887246 |
465 | D>H | No |
ClinGen gnomAD |
|
|
CA32676743 rs1049541024 |
466 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA343725970 rs1241571007 |
470 | C>S | No |
ClinGen TOPMed |
|
|
rs1301258174 CA343725982 |
471 | C>Y | No |
ClinGen TOPMed |
|
| TCGA novel | 472 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1214437752 CA343726030 |
474 | H>Q | No |
ClinGen gnomAD |
|
|
rs1249188474 CA343726025 |
474 | H>R | No |
ClinGen gnomAD |
|
|
CA1244876 rs771743998 |
477 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs773102210 CA1244877 |
477 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771743998 CA343726060 |
477 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1234053031 CA343726075 |
478 | I>V | No |
ClinGen gnomAD |
|
|
rs776723120 CA1244880 |
479 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA1244879 rs768437267 |
479 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768437267 CA1244878 |
479 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1244881 rs201490521 |
481 | L>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA343726178 rs1390973043 |
487 | P>R | No |
ClinGen gnomAD |
|
|
rs1368981053 CA343726173 |
487 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 488 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA32677595 rs936089349 |
493 | I>M | No |
ClinGen gnomAD |
|
|
CA343726353 rs1273194738 |
497 | L>F | No |
ClinGen gnomAD |
|
|
rs1206810098 CA343726358 |
498 | L>S | No |
ClinGen gnomAD |
|
|
CA343726356 rs1469778094 |
498 | L>V | No |
ClinGen gnomAD |
|
|
rs889895737 CA32677597 |
501 | G>D | No |
ClinGen gnomAD |
|
|
CA343726390 rs1558132684 |
504 | G>R | No |
ClinGen Ensembl |
|
|
CA32677606 rs1039298815 |
507 | L>F | No |
ClinGen Ensembl |
|
|
rs756656558 CA1244908 |
508 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA343726416 rs1395384655 |
508 | P>S | No |
ClinGen gnomAD |
|
|
CA343726420 rs752310306 |
509 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1244911 rs752310306 |
509 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343726443 rs1391522773 |
512 | H>R | No |
ClinGen TOPMed |
|
|
rs746675028 CA343726447 |
513 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746675028 CA1244914 |
513 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA343726450 rs1338341746 |
513 | D>V | No |
ClinGen gnomAD |
|
|
rs746675028 CA1244915 COSM321669 |
513 | D>Y | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1232240497 CA343726459 |
514 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1385033137 CA343726462 |
515 | F>L | No |
ClinGen TOPMed |
|
|
rs781185043 CA1244916 COSM3689132 |
516 | P>T | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC |
|
rs368816625 CA1244918 |
519 | C>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs371883088 CA1244919 |
520 | I>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA343726495 rs371883088 |
520 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 522 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs749327456 CA1244920 |
522 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1486130415 CA343726514 |
523 | V>L | No |
ClinGen gnomAD |
|
|
CA1244921 rs768622741 |
525 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762043608 CA1244924 |
526 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1244923 rs762043608 |
526 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343726542 rs773634739 |
527 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA1244925 rs773634739 |
527 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA343726543 rs773634739 |
527 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA32677661 rs865948011 |
527 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs747849367 CA343726547 |
528 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs747849367 CA1244927 |
528 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs375223887 CA1244926 |
528 | S>P | No |
ClinGen ESP ExAC gnomAD |
|
|
rs754305608 CA1244928 |
529 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA343726563 rs1558132780 |
531 | E>K | No |
ClinGen Ensembl |
|
|
CA343726574 rs1363762536 |
532 | V>E | No |
ClinGen gnomAD |
|
|
rs959134993 CA32677681 |
533 | A>D | No |
ClinGen gnomAD |
|
|
CA343726586 rs1358934934 |
534 | T>I | No |
ClinGen TOPMed |
|
|
rs757890010 CA1244929 |
535 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
CA343726636 rs1571170316 |
541 | Q>P | No |
ClinGen Ensembl |
|
|
CA343726648 rs1571170321 |
542 | S>R | No |
ClinGen Ensembl |
|
|
rs1313162096 CA343726657 |
544 | R>G | No |
ClinGen gnomAD |
|
|
CA1244931 rs751204481 |
545 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 547 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1571170340 CA343726681 |
547 | V>G | No |
ClinGen Ensembl |
|
|
rs757012796 CA1244932 |
548 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA32677723 rs990538098 |
549 | I>V | No |
ClinGen Ensembl |
|
|
CA343726701 rs1287582605 |
550 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA343726713 rs1254167364 |
552 | G>D | No |
ClinGen gnomAD |
|
|
CA1244933 rs369140926 |
554 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA343726732 rs1258517935 |
555 | Y>C | No |
ClinGen gnomAD |
|
|
CA1244936 rs772705665 |
557 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1244935 rs772705665 |
557 | A>T | Variant assessed as Somatic; 4.621e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA343726751 rs1249834990 |
558 | S>I | No |
ClinGen gnomAD |
|
|
CA343726794 rs1376398989 |
565 | A>T | No |
ClinGen gnomAD |
|
|
rs1293125538 CA343726811 |
565 | A>V | No |
ClinGen TOPMed |
|
|
CA32678858 rs200264969 |
566 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes NCI-TCGA gnomAD |
|
rs138325418 CA1244955 |
566 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs199795563 CA343726815 |
567 | P>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1186940740 CA343726817 |
567 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA1244956 rs199795563 |
567 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1244957 rs199795563 |
567 | P>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs2232825 CA343726833 |
569 | Y>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1244961 rs536300094 |
570 | D>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 570 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs374565649 CA1244959 |
570 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs747258439 CA1244962 |
572 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343726858 rs1558133444 |
573 | M>I | No |
ClinGen Ensembl |
|
|
rs1160474582 CA343726868 |
574 | F>L | No |
ClinGen gnomAD |
|
|
CA32678896 rs748244395 |
575 | D>H | No |
ClinGen Ensembl |
|
|
CA32678887 rs748244395 |
575 | D>N | No |
ClinGen Ensembl |
|
|
rs1467221388 CA343727168 |
579 | K>E | No |
ClinGen TOPMed |
|
|
CA32678903 COSM1257642 rs975096734 |
580 | D>N | oesophagus [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs377482696 CA1244964 |
582 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA343727190 rs1295190657 |
582 | T>I | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 583 | L>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1244967 rs201545508 |
585 | M>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1244968 rs761337698 |
585 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767163651 COSM1689193 CA1244969 |
588 | P>L | skin [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA343727228 rs1214928887 |
588 | P>S | No |
ClinGen gnomAD |
|
|
CA32678964 rs770876100 |
591 | A>T | No |
ClinGen Ensembl |
|
|
CA1244972 rs766166240 |
594 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs575960836 CA1244971 |
594 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA343727281 rs1484318829 |
596 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs940261723 CA32678973 |
597 | F>V | No |
ClinGen gnomAD |
|
|
CA1244975 rs371081946 |
600 | K>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 600 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA343727337 rs1327893445 |
602 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1571172155 COSM367984 CA343727354 |
603 | S>N | lung [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs758428566 CA1244977 |
606 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs200909388 CA1244978 |
607 | P>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1042589914 CA32678992 |
608 | E>V | No |
ClinGen TOPMed |
|
|
rs746128208 CA1245000 |
610 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs139335641 CA1245001 |
611 | F>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 613 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs749780365 CA343727609 |
614 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1245004 rs147369596 |
615 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA343727614 rs1256398158 |
615 | L>R | No |
ClinGen gnomAD |
|
|
CA1245005 rs147369596 |
615 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1558134145 CA343727616 |
616 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1230731537 CA343727630 |
618 | R>* | No |
ClinGen gnomAD |
|
|
rs369407003 CA1245008 |
618 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1558134177 CA343727680 |
625 | S>L | No |
ClinGen Ensembl |
|
|
rs775332888 CA343727695 |
628 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1245011 rs775332888 |
628 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1454780232 CA343727694 |
628 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA1245012 rs762867463 |
629 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1245013 rs763958945 |
630 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1441532945 CA343727711 |
631 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA1245015 rs368473341 |
632 | A>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA343727732 rs1376109373 |
634 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA1245016 rs767654844 |
635 | P>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 635 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 636 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA343727746 rs1164920659 |
637 | L>V | No |
ClinGen Ensembl |
|
|
rs754311962 CA1245020 |
640 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA1245019 rs371747669 |
640 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs749858967 CA1245021 |
641 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA1245022 rs779523959 COSM1214944 |
641 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1395520914 CA343727772 |
642 | I>N | No |
ClinGen gnomAD |
|
|
CA1245023 rs748711666 |
642 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1455418178 CA343727780 |
643 | E>V | No |
ClinGen gnomAD |
|
|
rs199956905 CA1245025 |
646 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1329580787 CA343727807 |
647 | N>S | No |
ClinGen gnomAD |
|
|
rs1403100024 CA343727838 |
651 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs745506285 CA1245026 |
653 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343727868 rs1372227478 |
656 | P>A | No |
ClinGen gnomAD |
|
|
CA32680703 rs199878964 |
656 | P>R | No |
ClinGen 1000Genomes gnomAD |
|
|
CA343727869 rs1372227478 |
656 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 661 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1338295886 CA343727934 |
666 | L>V | No |
ClinGen gnomAD |
|
|
CA1245027 rs187657008 |
668 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA343727951 rs187657008 |
668 | T>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA32680707 rs927228486 |
669 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs775140045 CA1245028 |
669 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs149043143 CA1245030 |
672 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1245032 rs761855934 |
674 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs140318455 CA1245031 |
674 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA32680731 rs199608968 |
676 | L>P | No |
ClinGen Ensembl |
|
|
rs767463259 CA1245033 |
678 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343728012 rs1168694817 |
679 | P>A | No |
ClinGen gnomAD |
|
|
rs750582911 CA1245034 |
681 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA343728031 rs1256455729 |
682 | G>C | No |
ClinGen TOPMed |
|
|
rs760963545 CA1245035 |
684 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs201514759 CA1245036 |
686 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs190345648 CA1245039 |
687 | Y>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1316594385 CA343728076 |
688 | V>A | No |
ClinGen gnomAD |
|
|
rs753117030 CA1245040 |
692 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343728121 rs1279695966 |
695 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA1245041 rs575314244 COSM162458 |
695 | T>M | Variant assessed as Somatic; 4.655e-05 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1571173971 CA343728130 |
696 | V>G | No |
ClinGen Ensembl |
|
|
rs1353959628 CA343728125 |
696 | V>M | No |
ClinGen TOPMed |
|
|
CA1245042 rs780555842 |
697 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA343728139 rs1273764704 |
698 | I>F | No |
ClinGen gnomAD |
1 associated diseases with Q8N6R0
Without disease ID
1 regional properties for Q8N6R0
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Methyltransferase type 11 | 53 - 157 | IPR013216 |
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| mitochondrion | A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration. |
| 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. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| methyltransferase activity | Catalysis of the transfer of a methyl group to an acceptor molecule. |
3 GO annotations of biological process
| Name | Definition |
|---|---|
| methylation | The process in which a methyl group is covalently attached to a molecule. |
| negative regulation of cell cycle G1/S phase transition | Any signalling pathway that decreases or inhibits the activity of a cell cycle cyclin-dependent protein kinase to modulate the switch from G1 phase to S phase of the cell cycle. |
| 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. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MNLLPKSSRE | FGSVDYWEKF | FQQRGKKAFE | WYGTYLELCG | VLHKYIKPRE | KVLVIGCGNS |
| 70 | 80 | 90 | 100 | 110 | 120 |
| ELSEQLYDVG | YRDIVNIDIS | EVVIKQMKEC | NATRRPQMSF | LKMDMTQMEF | PDASFQVVLD |
| 130 | 140 | 150 | 160 | 170 | 180 |
| KGTLDAVLTD | EEEKTLQQVD | RMLAEVGRVL | QVGGRYLCIS | LAQAHILKKA | VGHFSREGWM |
| 190 | 200 | 210 | 220 | 230 | 240 |
| VRVHQVANSQ | DQVLEAEPQF | SLPVFAFIMT | KFRPVPGSAL | QIFELCAQEQ | RKPVRLESAE |
| 250 | 260 | 270 | 280 | 290 | 300 |
| RLAEAVQERQ | QYAWLCSQLR | RKARLGSVSL | DLCDGDTGEP | RYTLHVVDSP | TVKPSRDNHF |
| 310 | 320 | 330 | 340 | 350 | 360 |
| AIFIIPQGRE | TEWLFGMDEG | RKQLAASAGF | RRLITVALHR | GQQYESMDHI | QAELSARVME |
| 370 | 380 | 390 | 400 | 410 | 420 |
| LAPAGMPTQQ | QVPFLSVGGD | IGVRTVQHQD | CSPLSGDYVI | EDVQGDDKRY | FRRLIFLSNR |
| 430 | 440 | 450 | 460 | 470 | 480 |
| NVVQSEARLL | KDVSHKAQKK | RKKDRKKQRP | ADAEDLPAAP | GQSIDKSYLC | CEHHKAMIAG |
| 490 | 500 | 510 | 520 | 530 | 540 |
| LALLRNPELL | LEIPLALLVV | GLGGGSLPLF | VHDHFPKSCI | DAVEIDPSML | EVATQWFGFS |
| 550 | 560 | 570 | 580 | 590 | 600 |
| QSDRMKVHIA | DGLDYIASLA | GGGEARPCYD | VIMFDVDSKD | PTLGMSCPPP | AFVEQSFLQK |
| 610 | 620 | 630 | 640 | 650 | 660 |
| VKSILTPEGV | FILNLVCRDL | GLKDSVLAGL | KAVFPLLYVR | RIEGEVNEIL | FCQLHPEQKL |
| 670 | 680 | 690 | |||
| ATPELLETAQ | ALERTLRKPG | RGWDDTYVLS | DMLKTVKIV |