Q7Z7L1
PR
Gene name |
SLFN11 |
Protein name |
Schlafen family member 11 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:91607 |
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
4 structures for Q7Z7L1
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 7ZEL | EM | 280 A | A/B | 1-901 | PDB |
| 7ZEP | EM | 320 A | A/B | 1-901 | PDB |
| 7ZES | EM | 310 A | A/B | 1-901 | PDB |
| AF-Q7Z7L1-F1 | Predicted | AlphaFoldDB |
806 variants for Q7Z7L1
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1196081010 CA399102399 |
3 | A>E | No |
ClinGen gnomAD |
|
|
rs1196081010 CA399102397 |
3 | A>G | No |
ClinGen gnomAD |
|
|
rs375529130 CA8503091 |
6 | C>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs765675350 CA8503093 |
6 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA8503090 rs375529130 |
6 | C>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8503092 rs759930377 |
6 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA399102307 rs1389165128 |
7 | P>H | No |
ClinGen TOPMed gnomAD |
|
|
CA399102304 rs1389165128 |
7 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA399102315 rs1382833702 |
7 | P>T | No |
ClinGen gnomAD |
|
|
rs142329405 CA8503088 |
8 | L>P | No |
ClinGen 1000Genomes ESP ExAC |
|
| TCGA novel | 10 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA399102247 rs1450741086 |
11 | E>G | No |
ClinGen gnomAD |
|
| TCGA novel | 12 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 14 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8503085 rs774335910 |
15 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA290002983 rs563663405 |
16 | D>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA8503083 rs147987308 |
19 | I>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs992583359 CA290002972 |
20 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
CA290002967 rs938528013 |
20 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs755922925 CA8503081 |
23 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA399102034 rs1463637303 |
24 | V>A | No |
ClinGen TOPMed |
|
|
rs1187467037 CA399102049 |
24 | V>L | No |
ClinGen gnomAD |
|
| TCGA novel | 25 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA290002965 rs571224112 |
26 | L>F | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 27 | G>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1247578943 CA399102005 |
27 | G>R | No |
ClinGen TOPMed |
|
|
rs777971720 CA8503079 |
29 | E>* | No |
ClinGen ExAC TOPMed |
|
|
rs1439232908 CA399101942 |
30 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
rs750592221 CA290002946 |
31 | R>I | No |
ClinGen ExAC gnomAD |
|
|
rs750592221 CA8503078 |
31 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA8503076 rs765768730 |
33 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA8503077 rs148853374 |
33 | K>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA399101866 rs1450866256 |
34 | L>Q | No |
ClinGen gnomAD |
|
|
CA399101864 rs1293315603 |
35 | Q>K | No |
ClinGen gnomAD |
|
|
rs1409105703 CA399101845 |
36 | K>E | No |
ClinGen TOPMed |
|
|
rs755488091 CA8503075 |
37 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs754420565 CA8503074 |
38 | Q>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 38 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 41 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA399101724 rs1301542926 |
43 | K>R | No |
ClinGen gnomAD |
|
|
CA8503070 rs200715746 |
45 | R>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA290002900 rs1028970423 |
47 | M>T | No |
ClinGen gnomAD |
|
|
CA8503067 rs773776714 |
48 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA8503068 rs773776714 |
48 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs192676350 CA8503069 |
48 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs768612211 CA8503066 |
49 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA8503065 rs749172838 |
51 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1473464018 CA399101586 |
52 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1473464018 CA399101588 |
52 | A>T | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 53 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA399101547 rs1490407555 |
55 | N>D | No |
ClinGen gnomAD |
|
| TCGA novel | 57 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs745675257 CA8503062 |
58 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs969523902 CA290002836 |
59 | G>R | No |
ClinGen TOPMed |
|
| TCGA novel | 60 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs758613276 CA8503060 COSM1382464 |
62 | R>* | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1224767096 CA399101404 |
62 | R>P | No |
ClinGen gnomAD |
|
|
rs1224767096 CA399101405 |
62 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs375903711 CA290002819 |
64 | A>V | No |
ClinGen gnomAD |
|
|
rs1327171621 CA399101370 |
65 | K>E | No |
ClinGen TOPMed |
|
|
CA8503059 rs748227145 |
66 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1364344991 CA399101354 |
67 | V>I | No |
ClinGen gnomAD |
|
|
rs755119059 CA8503057 |
68 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA8503055 rs780720822 |
69 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs72825958 CA8503054 |
70 | P>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs761425162 CA8503051 |
71 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399101296 rs1245941951 |
73 | M>V | No |
ClinGen TOPMed |
|
|
rs751243341 CA8503050 |
74 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1329731795 CA399101278 |
74 | G>R | No |
ClinGen gnomAD |
|
|
rs1480581774 CA399101241 |
77 | L>S | No |
ClinGen gnomAD |
|
|
CA399101223 rs1426864423 |
78 | E>D | No |
ClinGen gnomAD |
|
|
rs201777179 CA8503048 |
79 | Q>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA399101219 rs201777179 |
79 | Q>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs775345070 CA8503047 |
83 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA290002760 rs1009034901 |
84 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1209970411 CA399101138 |
85 | I>S | No |
ClinGen gnomAD |
|
|
CA290002759 rs373479964 |
87 | S>P | No |
ClinGen Ensembl |
|
|
rs769781027 CA8503046 |
91 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA8503045 rs151310744 |
92 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs776329575 CA8503044 |
93 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA8503042 rs748281123 |
94 | F>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 95 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8503040 rs768799094 |
96 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8503041 rs370330318 |
96 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 98 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8503039 rs201236984 |
101 | R>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 102 | C>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA399100934 rs1163576477 |
104 | Y>H | No |
ClinGen TOPMed |
|
|
rs756728457 CA8503036 |
108 | K>* | No |
ClinGen ExAC gnomAD |
|
|
CA399100900 rs1349681003 |
108 | K>N | No |
ClinGen TOPMed |
|
|
rs750798058 CA8503035 |
110 | W>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 110 | W>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA399100893 rs750798058 |
110 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs996308204 CA290002613 |
112 | S>R | No |
ClinGen TOPMed |
|
|
CA290002607 rs898941876 |
113 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs898941876 CA399100867 |
113 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1421171076 CA399100865 |
114 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs781359832 CA8503032 |
115 | F>L | No |
ClinGen ExAC TOPMed |
|
|
rs1342609160 CA399100845 |
116 | P>S | No |
ClinGen TOPMed |
|
|
CA8503031 rs757669425 |
118 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs751102443 CA290002558 COSM300635 |
119 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
COSM977912 CA8503029 rs577664302 |
119 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs751102443 CA8503030 |
119 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1044004482 CA290002550 |
120 | S>C | No |
ClinGen Ensembl |
|
|
CA8503028 rs762436434 |
120 | S>P | No |
ClinGen ExAC gnomAD |
|
|
VAR_031492 CA8503027 rs12453150 |
121 | V>F | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs140675117 CA8503024 |
124 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs770564755 CA8503023 COSM1382463 |
124 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs770564755 CA399100765 |
124 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1314307811 CA399100762 |
125 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA399100763 rs1314307811 |
125 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs760533787 CA8503022 |
127 | S>I | No |
ClinGen ExAC gnomAD |
|
|
CA8503021 rs371457747 |
128 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA290002515 rs886325880 |
129 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs867433878 CA290002505 |
131 | S>L | No |
ClinGen Ensembl |
|
|
rs372989047 CA8503020 |
131 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs151038553 CA8503018 CA8503019 |
133 | Y>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 133 | Y>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs369259962 CA290002489 |
134 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed gnomAD |
|
CA8503016 rs376084054 |
134 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA399100666 rs1366265599 |
135 | R>S | No |
ClinGen TOPMed |
|
|
rs757503049 CA8503014 |
138 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747460886 CA8503012 |
140 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8503011 rs777285142 |
141 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752179914 CA8503009 |
143 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs369066058 CA8503010 |
143 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA399100559 rs1466005462 |
144 | D>V | No |
ClinGen TOPMed |
|
|
rs933367686 CA290002425 |
148 | A>T | No |
ClinGen Ensembl |
|
|
CA8503007 rs754490295 |
148 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8503006 rs753662354 |
149 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1304655943 CA399100454 |
152 | L>P | No |
ClinGen gnomAD |
|
|
rs142844647 CA8503005 |
154 | T>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA290002411 rs963363648 |
155 | K>* | No |
ClinGen TOPMed |
|
|
rs963363648 CA290002412 |
155 | K>E | No |
ClinGen TOPMed |
|
|
rs1350833472 CA399100408 |
156 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs773102148 CA8503004 |
157 | K>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773102148 CA8503003 |
157 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399100384 rs1402643511 |
157 | K>N | No |
ClinGen gnomAD |
|
|
rs764393288 CA8503002 |
158 | P>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 159 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs375803821 CA8502999 |
164 | G>E | No |
ClinGen ESP TOPMed |
|
|
rs775882262 CA8502998 |
165 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA290002359 rs866283600 |
167 | H>R | No |
ClinGen Ensembl |
|
| TCGA novel | 167 | H>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA399100143 rs1418874099 |
171 | K>* | No |
ClinGen gnomAD |
|
|
rs372354211 CA8502996 |
171 | K>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA290002353 rs372354211 |
171 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA399100117 rs771533951 |
172 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA8502994 rs771533951 |
172 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs1268327298 CA399100102 |
173 | V>I | No |
ClinGen gnomAD |
|
|
rs778159998 CA8502992 |
175 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA8502993 rs778159998 |
175 | Q>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1258916838 CA399100046 |
176 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 177 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs996391802 CA290002311 |
179 | N>D | No |
ClinGen TOPMed |
|
|
rs369831357 CA8502991 |
180 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
rs200295893 CA8502989 |
181 | D>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA399099902 rs1344453238 |
182 | P>H | No |
ClinGen TOPMed gnomAD |
|
|
CA8502988 rs754434472 |
182 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA399099844 rs1323760882 |
185 | P>T | No |
ClinGen gnomAD |
|
|
CA8502986 rs766198633 |
186 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA8502985 rs756128320 |
187 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1453664678 CA399099768 |
188 | D>E | No |
ClinGen gnomAD |
|
|
CA8502983 rs767384532 |
189 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399099711 rs1479604278 |
191 | D>E | No |
ClinGen gnomAD |
|
|
rs1285595901 CA399099732 |
191 | D>Y | No |
ClinGen gnomAD |
|
|
CA399099696 rs1567824074 |
192 | L>P | No |
ClinGen Ensembl |
|
|
CA399099681 rs1199793710 |
193 | I>F | No |
ClinGen gnomAD |
|
|
CA290002272 rs1052808847 CA399099588 |
196 | K>N | No |
ClinGen gnomAD |
|
|
rs144754469 CA8502979 |
196 | K>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs999152198 CA399099585 |
197 | D>H | No |
ClinGen gnomAD |
|
|
rs999152198 CA290002270 |
197 | D>N | No |
ClinGen gnomAD |
|
|
CA290002268 rs759530032 |
198 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs759530032 CA399099558 |
198 | Y>S | No |
ClinGen TOPMed gnomAD |
|
|
CA399099540 rs1306765986 |
199 | L>F | No |
ClinGen gnomAD |
|
|
CA290002267 rs932468650 |
199 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA8502976 rs550054913 |
201 | Y>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs759526992 CA8502977 |
201 | Y>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8502975 rs771318674 |
202 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA8502974 rs747501472 |
207 | F>C | No |
ClinGen ExAC gnomAD |
|
|
rs1458829699 CA399099340 |
208 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA399099349 rs1294214601 |
208 | P>T | No |
ClinGen gnomAD |
|
|
CA8502973 rs773714294 |
209 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs748571314 CA8502971 |
210 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs533472058 CA399099223 |
213 | V>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs533472058 CA8502969 |
213 | V>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1567823880 CA399099207 |
214 | E>A | No |
ClinGen Ensembl |
|
|
CA399099188 rs1329096194 |
214 | E>D | No |
ClinGen TOPMed |
|
|
CA290002212 rs921131288 |
214 | E>K | No |
ClinGen Ensembl |
|
| TCGA novel | 218 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA399098392 rs1352894549 |
219 | S>F | No |
ClinGen Ensembl |
|
|
rs564100410 CA8502964 |
220 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA8502963 rs781283477 |
222 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1249843272 CA399098364 |
222 | H>Y | No |
ClinGen gnomAD |
|
|
rs146144618 CA8502961 |
223 | F>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs765523930 CA8502960 |
223 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA290002188 rs909181994 |
223 | F>Y | No |
ClinGen Ensembl |
|
|
CA8502959 rs143078459 |
225 | E>D | No |
ClinGen ESP ExAC TOPMed |
|
|
CA290002183 rs983484263 |
225 | E>V | No |
ClinGen TOPMed gnomAD |
|
|
rs754029463 CA8502958 |
226 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA399098261 rs1199337923 |
230 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA290002179 rs866978404 |
232 | P>S | No |
ClinGen Ensembl |
|
|
CA8502956 rs760685634 |
235 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1366686110 CA399098172 |
236 | P>L | No |
ClinGen gnomAD |
|
|
CA399098107 rs1300466976 |
241 | T>I | No |
ClinGen gnomAD |
|
|
rs1300466976 CA399098108 |
241 | T>S | No |
ClinGen gnomAD |
|
|
rs773696041 CA8502955 |
242 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1416429714 CA399098077 |
244 | G>A | No |
ClinGen gnomAD |
|
| TCGA novel | 244 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8502953 rs762136029 |
244 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1168142674 CA399098049 |
246 | L>F | No |
ClinGen gnomAD |
|
|
rs748934544 CA8502950 |
247 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA8502949 rs779581965 |
248 | I>N | No |
ClinGen ExAC gnomAD |
|
|
CA399097977 rs1480662877 |
251 | D>E | No |
ClinGen gnomAD |
|
|
CA399097980 rs1237888711 |
251 | D>V | No |
ClinGen gnomAD |
|
|
rs745425672 CA8502947 |
251 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs137864864 CA8502946 |
253 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1249413182 CA399097923 |
255 | R>K | No |
ClinGen gnomAD |
|
|
CA8502943 COSM3356906 rs777573505 |
259 | G>R | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs758159321 CA8502942 |
260 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA290002081 rs928904234 |
265 | V>L | No |
ClinGen Ensembl |
|
|
rs754024910 CA8502941 |
266 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs766568781 CA8502940 |
267 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs150720174 CA8502938 |
269 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 271 | R>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8502937 rs767993482 |
271 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs762260970 CA8502936 |
272 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs970188752 CA290002062 |
273 | K>E | No |
ClinGen Ensembl |
|
|
CA8502934 rs764456847 |
274 | I>K | No |
ClinGen ExAC gnomAD |
|
|
CA399097503 rs1305716604 |
275 | E>D | No |
ClinGen TOPMed |
|
|
rs1440893778 CA399097512 |
275 | E>G | No |
ClinGen gnomAD |
|
|
rs577650137 CA8502933 |
275 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs775191412 CA8502932 |
276 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA8502930 rs769397338 |
277 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA399097484 rs1597717237 |
277 | A>T | No |
ClinGen Ensembl |
|
|
rs1340499203 CA399097475 |
278 | I>V | No |
ClinGen TOPMed |
|
|
CA8502929 rs141176380 |
282 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs148218481 CA8502927 |
283 | C>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA399097392 rs148218481 |
283 | C>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs770585980 CA8502926 |
284 | V>D | No |
ClinGen ExAC gnomAD |
|
|
rs1230460166 CA399097355 |
285 | H>N | No |
ClinGen TOPMed gnomAD |
|
|
CA399097243 rs1349064657 |
289 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs114962374 COSM185112 CA8502925 |
291 | R>C | large_intestine central_nervous_system [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1229291682 CA399097199 COSM436398 |
291 | R>H | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA399097201 rs114962374 |
291 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8502923 COSM977908 rs142137401 |
292 | P>L | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA399097167 rs1444219668 |
293 | I>K | No |
ClinGen TOPMed |
|
|
CA399097164 rs1444219668 |
293 | I>T | No |
ClinGen TOPMed |
|
|
rs1350487082 CA399097150 |
294 | T>A | No |
ClinGen gnomAD |
|
|
rs375728855 CA399097140 |
294 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8502921 rs375728855 |
294 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399097135 rs1372140210 |
295 | F>V | No |
ClinGen TOPMed |
|
|
CA290001990 rs998536390 |
296 | T>A | No |
ClinGen Ensembl |
|
|
CA290001986 rs998536390 |
296 | T>S | No |
ClinGen Ensembl |
|
|
rs756378814 CA8502920 |
299 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750667963 CA8502919 |
300 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs4796077 VAR_031493 CA8502918 |
301 | N>D | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA399097017 rs4796077 |
301 | N>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs4796077 CA399097012 |
301 | N>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 302 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8502916 rs752050667 |
306 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs757338088 CA8502917 |
306 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA8502915 rs201730769 |
308 | L>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8502913 rs775754773 |
313 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA8502912 rs764957586 |
316 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399096815 rs764957586 |
316 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 316 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8502911 rs772760907 |
319 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 320 | F>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA399096751 rs1298841345 |
321 | C>S | No |
ClinGen TOPMed |
|
|
rs1597716903 CA399096702 |
325 | F>S | No |
ClinGen Ensembl |
|
|
rs1567823227 CA399096709 |
325 | F>V | No |
ClinGen Ensembl |
|
|
CA8502910 rs141439855 |
326 | S>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA290001929 rs996793785 |
327 | E>D | No |
ClinGen gnomAD |
|
|
CA8502909 rs770498065 |
327 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA399096689 rs1251178027 |
327 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1276679512 CA399096666 |
329 | P>A | No |
ClinGen gnomAD |
|
|
rs746530312 CA8502908 |
329 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA290001900 rs145672391 |
333 | I>R | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA399096609 rs145672391 |
333 | I>T | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA399096600 rs1597716806 |
334 | V>M | No |
ClinGen Ensembl |
|
|
rs899647403 CA290001872 |
335 | E>K | No |
ClinGen Ensembl |
|
|
rs747955310 CA8502905 |
337 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8502903 rs149980802 |
339 | V>I | No |
ClinGen ESP ExAC gnomAD |
|
|
CA290001859 rs748515718 |
341 | S>N | No |
ClinGen Ensembl |
|
|
rs1391802098 CA399096480 |
344 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA399096477 rs1448303774 |
344 | T>I | No |
ClinGen gnomAD |
|
|
CA8502901 rs541053267 |
345 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs140463634 CA8502900 |
346 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA290001846 rs751653143 |
347 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA8502899 rs751653143 |
347 | W>C | No |
ClinGen ExAC gnomAD |
|
|
rs1597716632 CA399096423 |
348 | V>G | No |
ClinGen Ensembl |
|
|
CA399096415 rs764628698 |
349 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764628698 CA8502898 |
349 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758875135 CA8502897 |
350 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1226315328 CA399096378 |
352 | T>K | No |
ClinGen gnomAD |
|
|
CA8502896 rs753268608 |
353 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1364486638 CA399096374 |
353 | D>N | No |
ClinGen gnomAD |
|
|
CA399096356 rs1567823064 |
354 | T>R | No |
ClinGen Ensembl |
|
| TCGA novel | 355 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1442895068 CA399096334 |
356 | P>L | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 357 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs977290720 CA290000016 |
358 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA8502874 rs766108180 |
358 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs867563653 CA290000009 |
361 | L>S | No |
ClinGen Ensembl |
|
|
CA399095840 rs1370701165 |
362 | S>F | No |
ClinGen gnomAD |
|
|
rs760199201 CA8502873 |
364 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA399095820 rs1432219044 |
365 | F>S | No |
ClinGen gnomAD |
|
|
CA399095809 rs750124007 |
366 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8502870 rs761402558 |
368 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA399095788 rs1255824213 |
370 | S>R | No |
ClinGen TOPMed |
|
|
rs1018415887 CA289999975 |
370 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1482837909 CA399095778 |
371 | L>P | No |
ClinGen gnomAD |
|
|
CA289999959 rs151268612 |
372 | S>P | No |
ClinGen ESP TOPMed gnomAD |
|
| TCGA novel | 373 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8502866 rs775310158 |
373 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA399095764 rs1455212248 |
374 | G>R | No |
ClinGen gnomAD |
|
| TCGA novel | 375 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA399095749 rs1264804436 |
376 | P>H | No |
ClinGen gnomAD |
|
|
CA289999941 rs267604808 |
377 | L>F | No |
ClinGen gnomAD |
|
|
CA8502864 rs747157199 |
378 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA289999910 rs778058988 |
382 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA8502863 rs778058988 |
382 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
CA399095708 rs1180554724 |
383 | S>P | No |
ClinGen TOPMed |
|
|
CA8502862 rs369970622 |
384 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1429258254 CA399095696 |
385 | K>Q | No |
ClinGen TOPMed |
|
|
rs201835215 CA8502859 |
386 | G>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs779531929 CA8502860 |
386 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA8502861 COSM126296 rs779531929 |
386 | G>S | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1013264563 CA289999895 |
387 | L>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA399095683 rs1013264563 |
387 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
rs754420408 CA8502858 |
388 | E>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 388 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs780528484 CA8502857 |
389 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1597711694 CA399095666 |
390 | K>E | No |
ClinGen Ensembl |
|
|
rs1157355529 CA399095654 |
391 | K>M | No |
ClinGen gnomAD |
|
|
CA289999877 rs1026606463 |
391 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1422771729 CA399095646 |
392 | E>D | No |
ClinGen gnomAD |
|
| TCGA novel | 393 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 396 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA399095611 rs1337168337 |
397 | L>F | No |
ClinGen TOPMed |
|
|
rs1184539189 CA399095604 |
398 | F>C | No |
ClinGen gnomAD |
|
|
rs756508445 CA8502856 |
399 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399118771 rs1269782833 |
400 | V>D | No |
ClinGen gnomAD |
|
|
rs1188654982 CA399118758 |
401 | P>L | No |
ClinGen gnomAD |
|
|
rs780627601 CA8502840 |
402 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1343812498 CA399118752 |
402 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA399118741 rs1234810749 |
403 | G>E | No |
ClinGen gnomAD |
|
|
rs200518229 CA8502839 |
406 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780673919 CA8502838 |
406 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780673919 CA8502837 |
406 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756979596 CA8502836 |
407 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1159848067 CA399118709 |
407 | Y>H | No |
ClinGen TOPMed |
|
|
rs1157422213 CA399118689 |
409 | P>S | No |
ClinGen TOPMed |
|
|
CA399118693 rs1157422213 |
409 | P>T | No |
ClinGen TOPMed |
|
| TCGA novel | 410 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751232265 CA8502835 |
411 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA8502834 rs763558497 |
412 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs1401810658 CA399118624 |
415 | D>N | No |
ClinGen gnomAD |
|
|
CA399118586 rs1436676029 |
418 | S>A | No |
ClinGen gnomAD |
|
|
CA399118581 rs1390807182 |
418 | S>L | No |
ClinGen TOPMed |
|
| TCGA novel | 421 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA290040036 rs901071190 |
422 | G>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA399118536 rs1388332650 |
422 | G>E | No |
ClinGen gnomAD |
|
|
rs542078013 CA8502832 |
423 | L>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs143719018 CA8502831 |
424 | E>* | No |
ClinGen ESP ExAC gnomAD |
|
|
CA8502830 rs759246639 |
425 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8502829 rs776538931 |
428 | N>H | No |
ClinGen ExAC gnomAD |
|
|
CA8502826 rs774718215 |
430 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA399118444 rs1567817551 |
430 | Q>R | No |
ClinGen Ensembl |
|
|
rs1018167366 CA290040008 |
431 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
CA290040004 rs1007244989 |
431 | M>T | No |
ClinGen TOPMed |
|
|
rs768795177 CA8502825 |
432 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8502822 rs140112516 |
433 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs140112516 CA8502823 |
433 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs746200561 CA8502821 |
435 | F>I | No |
ClinGen ExAC gnomAD |
|
|
CA8502820 rs781575425 |
435 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs146126445 CA8502815 |
436 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs146126445 CA8502817 |
436 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs146126445 CA8502816 |
436 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM977906 rs746600587 CA8502818 |
436 | R>W | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs369676057 CA8502814 |
437 | G>R | No |
ClinGen ESP ExAC gnomAD |
|
|
CA8502812 rs562715364 |
439 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA8502813 rs200730458 |
439 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371752176 CA290039959 |
440 | I>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs199673490 CA8502811 |
441 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1567817377 CA399118325 |
441 | F>S | No |
ClinGen Ensembl |
|
|
CA290039957 rs760558446 |
442 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8502810 rs760558446 |
442 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA290039941 rs148585532 |
445 | W>* | No |
ClinGen ESP TOPMed |
|
|
CA8502808 rs144863903 |
446 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 448 | D>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA399118232 rs1189694655 |
450 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs763090826 CA8502806 |
452 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs979339858 CA290039930 |
452 | Q>R | No |
ClinGen TOPMed |
|
|
CA399118195 rs1483724013 |
453 | E>D | No |
ClinGen gnomAD |
|
|
rs1205296236 CA399118204 |
453 | E>K | No |
ClinGen gnomAD |
|
|
rs1341167823 CA399118171 |
456 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs777011294 CA8502802 |
462 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1348896425 CA399118095 |
463 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA399118085 rs1252921825 |
464 | I>T | No |
ClinGen TOPMed |
|
|
CA290039917 rs976366013 |
466 | Q>* | No |
ClinGen TOPMed |
|
|
rs771230250 CA8502801 |
466 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1410531191 CA399118052 |
467 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
rs747433951 CA8502800 |
469 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA8502798 rs771753421 |
470 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA8502799 rs777399612 |
470 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA399118037 rs777399612 |
470 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA399118034 rs1425068943 |
471 | I>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA8502797 rs747778080 |
472 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374964852 CA8502795 |
473 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA399118015 rs1403036105 |
474 | T>P | No |
ClinGen gnomAD |
|
|
CA399118008 rs1182383970 |
475 | I>V | No |
ClinGen gnomAD |
|
|
rs1597699471 CA399117985 |
478 | E>G | No |
ClinGen Ensembl |
|
|
rs1244471490 CA399117989 |
478 | E>K | No |
ClinGen gnomAD |
|
|
CA399117977 rs1451518270 |
479 | Q>P | No |
ClinGen gnomAD |
|
|
CA399117951 rs1327444481 |
483 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA8502790 rs149238570 |
485 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1273130790 CA399117923 |
486 | Y>* | No |
ClinGen gnomAD |
|
|
rs1375692124 CA399117930 |
486 | Y>N | No |
ClinGen TOPMed gnomAD |
|
|
CA8502789 rs138392474 |
487 | C>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8502788 rs763222809 |
488 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs139588310 CA8502787 |
489 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8502786 rs9898983 |
489 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
VAR_062186 CA8502785 rs9898983 |
489 | R>L | No |
ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
CA8502781 rs773616224 |
492 | F>C | No |
ClinGen ExAC |
|
|
CA8502782 rs200387434 |
492 | F>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs772456437 CA8502780 |
493 | T>A | No |
ClinGen ExAC |
|
|
rs747768874 CA8502779 |
493 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1462549971 CA399117881 |
494 | L>W | No |
ClinGen TOPMed |
|
|
rs1187928202 CA399117801 |
501 | M>T | No |
ClinGen TOPMed |
|
|
rs748813058 CA8502776 |
502 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748813058 CA399117784 |
502 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs1006801410 | 503 | G>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA399117776 rs1222540634 |
503 | G>D | No |
ClinGen gnomAD |
|
|
CA8502775 rs780105341 |
503 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1463871369 CA399117752 |
505 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1463871369 CA399117749 |
505 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs570453246 CA8502772 |
506 | G>R | No |
ClinGen 1000Genomes ExAC |
|
|
COSM1177571 CA8502770 rs200274296 |
507 | K>E | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs547424777 CA8502768 |
508 | V>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs765437686 CA8502769 |
508 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1290882251 CA399117690 |
511 | R>K | No |
ClinGen TOPMed |
|
|
rs527404230 CA8502767 |
511 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1305542660 CA399117661 |
513 | K>R | No |
ClinGen gnomAD |
|
|
rs1432806181 CA399117654 |
514 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
rs761130060 CA8502764 |
516 | C>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399117612 rs1174843707 |
517 | L>P | No |
ClinGen gnomAD |
|
|
CA399117527 rs1396352508 |
521 | S>R | No |
ClinGen gnomAD |
|
|
rs1176143218 CA399117518 |
522 | S>G | No |
ClinGen gnomAD |
|
|
rs202115057 CA290039717 |
523 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs202115057 CA8502762 |
523 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA399117490 rs1389989567 |
523 | A>V | No |
ClinGen gnomAD |
|
|
CA8502761 rs762140615 |
524 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399117353 rs768230284 |
530 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8502759 rs768230284 |
530 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 530 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1014376729 CA290039699 |
531 | S>F | No |
ClinGen TOPMed |
|
|
rs1341337844 CA399117219 |
537 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA8502757 rs775088187 |
538 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399117189 rs1376609740 |
539 | Y>F | No |
ClinGen gnomAD |
|
|
CA399117153 rs1448276792 |
541 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA399117083 rs1305607740 |
545 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA399117076 rs1428494576 |
546 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1294320792 CA399117059 |
547 | M>L | No |
ClinGen TOPMed |
|
|
rs926203838 CA290039681 |
549 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
rs926203838 CA399117010 |
549 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA399116931 rs1300044143 |
554 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA399116906 rs1412073813 |
555 | V>M | No |
ClinGen gnomAD |
|
|
CA8502754 rs531866797 |
556 | I>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA8502753 rs757064007 |
557 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1221911165 CA399116863 |
558 | L>S | No |
ClinGen TOPMed |
|
|
rs779165888 CA8502751 |
560 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399116825 rs779165888 |
560 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1251818860 CA399116782 |
562 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1597698571 CA399116729 |
563 | S>T | No |
ClinGen Ensembl |
|
|
rs201829415 CA8502750 |
564 | L>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA399116707 rs201829415 |
564 | L>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA399116670 rs1311719466 |
566 | S>R | No |
ClinGen gnomAD |
|
|
CA399116628 rs1357006557 CA399116631 |
568 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA8502747 rs756198891 |
570 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs756198891 CA399116603 |
570 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs750915132 CA8502746 |
571 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA399116563 rs1597698476 |
571 | C>W | No |
ClinGen Ensembl |
|
|
rs767974667 CA8502745 |
571 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA399116540 rs1463967591 |
572 | E>D | No |
ClinGen gnomAD |
|
|
rs1597698469 CA399116545 |
572 | E>G | No |
ClinGen Ensembl |
|
|
rs762204975 CA8502744 |
573 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA399116535 rs1348557829 |
573 | V>I | No |
ClinGen gnomAD |
|
|
rs1367612175 CA399116490 |
574 | L>F | No |
ClinGen TOPMed |
|
|
CA399116477 rs1197126228 |
575 | N>Y | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 577 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8502742 rs774625714 |
581 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1444341112 CA399116285 |
582 | Y>C | No |
ClinGen TOPMed |
|
| TCGA novel | 583 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1372009248 CA399116266 |
583 | E>G | No |
ClinGen TOPMed |
|
|
CA399116246 rs1480749284 |
584 | I>K | No |
ClinGen gnomAD |
|
|
CA399116184 rs1251316793 |
586 | S>F | No |
ClinGen gnomAD |
|
|
CA399116174 rs1316719827 |
587 | R>K | No |
ClinGen TOPMed |
|
|
CA8502741 rs560527012 |
589 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA8502740 rs762477778 |
590 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8502739 RCV000968963 rs146981586 |
590 | R>H | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA399116099 rs146981586 |
590 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA399116051 rs1567816395 |
592 | N>K | No |
ClinGen Ensembl |
|
|
rs745432136 CA8502737 |
593 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA399116029 rs1335894505 |
594 | E>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs985533355 CA290039596 |
594 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA399116010 rs1308492630 |
594 | E>V | No |
ClinGen TOPMed gnomAD |
|
|
CA399115973 rs1283795226 |
595 | L>S | No |
ClinGen TOPMed gnomAD |
|
|
rs770815975 CA8502734 |
597 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs776706857 CA8502735 |
597 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA399115904 rs545992592 |
598 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399115886 rs1411400130 |
599 | G>S | No |
ClinGen TOPMed |
|
|
rs1597698180 CA399115870 |
600 | L>I | No |
ClinGen Ensembl |
|
|
CA8502732 rs777383424 |
603 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399115785 rs1161414687 |
605 | K>E | No |
ClinGen gnomAD |
|
|
rs749454545 CA8502730 |
607 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1338196431 CA399115652 |
609 | A>V | No |
ClinGen TOPMed |
|
|
rs1567816304 CA399115617 |
611 | K>E | No |
ClinGen Ensembl |
|
|
rs1194112591 CA399115576 |
612 | I>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs780311198 CA8502729 |
612 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA8502728 rs756180435 |
614 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399115479 rs1340542512 |
617 | R>G | No |
ClinGen TOPMed |
|
|
rs1401724044 CA399115448 |
618 | N>S | No |
ClinGen gnomAD |
|
|
CA399115423 rs1350908562 |
619 | V>A | No |
ClinGen gnomAD |
|
|
rs1216629314 CA399115387 |
621 | H>P | No |
ClinGen TOPMed |
|
|
CA8502725 rs781707234 |
622 | C>G | No |
ClinGen ExAC gnomAD |
|
|
rs752134511 CA8502723 |
626 | R>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 626 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764302302 CA8502722 |
627 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764302302 CA399115220 |
627 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8502721 rs763428339 |
628 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs148267366 CA290039535 |
629 | Y>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs765053182 CA8502719 |
630 | V>I | Variant assessed as Somatic; 4.642e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA399115094 rs1567816149 |
633 | N>K | No |
ClinGen Ensembl |
|
|
CA8502718 rs148920066 |
633 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8502717 rs148920066 |
633 | N>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1464612733 CA399115077 |
634 | Q>* | No |
ClinGen gnomAD |
|
|
rs1377136496 CA399115058 |
635 | P>T | No |
ClinGen gnomAD |
|
|
rs1183244314 CA399115024 |
637 | R>K | No |
ClinGen TOPMed |
|
|
CA399114980 rs1174251089 |
639 | F>L | No |
ClinGen gnomAD |
|
|
rs770497477 CA399114960 |
640 | I>L | No |
ClinGen ExAC TOPMed |
|
|
rs770497477 CA8502716 |
640 | I>V | No |
ClinGen ExAC TOPMed |
|
|
CA399114801 rs371572826 |
642 | D>G | No |
ClinGen ESP ExAC gnomAD |
|
|
rs371572826 CA8502691 |
642 | D>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs768467754 CA8502692 |
642 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs776928711 CA8502690 |
643 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8502689 rs770906124 |
645 | I>S | No |
ClinGen ExAC gnomAD |
|
|
CA8502688 rs80209975 |
647 | R>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA399114743 rs80209975 |
647 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8502687 rs201150761 |
647 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8502684 rs779381719 |
648 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA8502685 rs146793614 |
648 | A>T | No |
ClinGen ESP ExAC gnomAD |
|
|
rs755400415 CA8502683 |
650 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs1386743088 CA399114692 |
650 | T>P | No |
ClinGen TOPMed |
|
|
COSM1520638 CA8502681 rs766121622 |
651 | R>Q | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA8502682 rs753419308 |
651 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs143643982 CA8502680 |
652 | K>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 652 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA399114561 rs1382152200 |
654 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1308823321 CA399114595 |
654 | F>L | No |
ClinGen TOPMed |
|
|
CA399114523 rs1289375616 |
656 | R>G | No |
ClinGen TOPMed |
|
|
rs749997351 CA8502678 |
656 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8502677 rs3744370 |
658 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761696206 CA8502676 |
660 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs774271993 CA8502675 |
661 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1208457719 CA399114424 |
661 | H>Y | No |
ClinGen gnomAD |
|
|
rs763815671 CA8502674 |
662 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771227424 CA8502671 |
666 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8502670 rs141302419 |
667 | I>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA399114256 rs1161243873 |
667 | I>V | No |
ClinGen TOPMed |
|
|
CA399114224 rs377115038 |
668 | D>E | No |
ClinGen ESP TOPMed gnomAD |
|
|
COSM277360 rs1321441845 CA399114215 |
669 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs372849197 CA8502666 |
672 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8502665 rs201406101 |
674 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA8502664 rs202123744 |
674 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8502663 rs202123744 |
674 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8502662 rs779549428 |
675 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8502661 rs779549428 |
675 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 676 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8502660 rs755740719 |
677 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA399113983 rs1320928600 |
678 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs532707581 CA8502658 |
680 | W>C | No |
ClinGen 1000Genomes ExAC |
|
|
rs1192236967 CA399113916 |
680 | W>L | No |
ClinGen gnomAD |
|
|
CA8502659 rs750071513 |
680 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA399113887 rs1468373802 |
681 | Y>C | No |
ClinGen gnomAD |
|
|
rs756770381 COSM1128756 CA8502657 |
682 | G>R | prostate [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA8502655 rs764089655 |
686 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs747823410 | 686 | S>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8502653 COSM1382460 rs146588899 |
687 | I>V | large_intestine Variant assessed as Somatic; 4.619e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA gnomAD |
|
rs143096498 CA8502651 |
689 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8502650 rs143096498 |
689 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs775406951 CA8502652 |
689 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399113707 rs1233456763 |
690 | R>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs773573701 CA8502649 |
691 | A>E | No |
ClinGen ExAC gnomAD |
|
|
CA399113619 rs370460575 |
693 | G>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs774130077 CA290039132 |
693 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs370460575 CA8502646 |
693 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA290039119 rs770781799 |
694 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
CA399113547 rs1172385741 |
695 | P>Q | No |
ClinGen gnomAD |
|
|
rs769253715 CA8502644 |
696 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1406955554 CA399113527 |
696 | G>R | No |
ClinGen TOPMed |
|
|
CA399113509 rs1597696604 |
697 | I>V | No |
ClinGen Ensembl |
|
|
rs749780647 CA8502643 |
698 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs749780647 CA399113458 |
698 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs1485062516 CA399113329 |
703 | D>V | No |
ClinGen gnomAD |
|
|
CA399113314 rs1597696537 |
704 | Y>S | No |
ClinGen Ensembl |
|
|
CA8502639 rs780877481 |
705 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs1297535881 CA399113238 |
707 | T>N | No |
ClinGen TOPMed |
|
|
CA8502638 rs756758369 |
707 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA399113224 rs1567815306 |
708 | S>G | No |
ClinGen Ensembl |
|
|
CA8502636 rs777668696 |
709 | H>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA399113136 rs1270481181 |
710 | L>F | No |
ClinGen gnomAD |
|
|
rs752608049 CA8502634 |
710 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 711 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA399113128 rs1263628490 |
711 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs765018127 CA8502633 |
712 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs759265116 CA8502632 |
712 | C>Y | No |
ClinGen ExAC TOPMed |
|
|
rs79638520 CA8502631 |
713 | S>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1597696364 CA399112203 |
713 | S>R | No |
ClinGen Ensembl |
|
|
CA399112196 rs1597696350 |
714 | G>A | No |
ClinGen Ensembl |
|
|
CA399112174 rs761961517 |
716 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA8502629 rs761961517 |
716 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA8502628 rs774522465 |
717 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1187873613 CA399112172 |
717 | P>T | No |
ClinGen TOPMed |
|
|
CA8502627 rs768645411 |
718 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1205676518 COSM1479450 CA399112138 |
719 | S>* | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA399112130 rs1471003376 |
720 | D>A | No |
ClinGen TOPMed |
|
|
rs1174437755 CA399112122 |
720 | D>E | No |
ClinGen TOPMed |
|
|
rs1430529061 CA399112134 |
720 | D>N | No |
ClinGen TOPMed |
|
|
CA8502626 rs763447130 |
721 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1290831310 CA399112101 |
721 | Q>H | No |
ClinGen TOPMed |
|
|
CA399112097 rs1399121008 |
722 | Y>H | No |
ClinGen TOPMed |
|
|
rs1399121008 CA399112100 |
722 | Y>N | No |
ClinGen TOPMed |
|
|
CA8502625 rs775871508 |
723 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399112075 rs1248342353 |
723 | P>L | No |
ClinGen gnomAD |
|
|
CA290039030 rs775871508 |
723 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 728 | T>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1486008012 CA399111956 |
729 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1202354299 CA399111938 |
730 | I>R | No |
ClinGen TOPMed gnomAD |
|
|
rs746302054 CA8502623 |
730 | I>V | No |
ClinGen ExAC gnomAD |
|
|
COSM168650 rs200734680 CA8502622 |
732 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs200734680 CA290038971 |
732 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA399111906 rs746690453 |
732 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs746690453 CA8502620 |
732 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA8502621 rs200734680 |
732 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs777298355 CA8502619 |
733 | N>S | No |
ClinGen ExAC |
|
|
CA8502618 rs757850935 |
739 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs752624807 CA8502617 |
742 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs1597696074 CA399111654 |
742 | Q>H | No |
ClinGen Ensembl |
|
|
CA399111647 rs1269872090 |
743 | K>E | No |
ClinGen gnomAD |
|
|
rs867798310 CA290038936 |
746 | Q>* | No |
ClinGen Ensembl |
|
|
rs750860430 CA290038931 |
747 | V>A | No |
ClinGen Ensembl |
|
|
rs1356809100 CA399111501 |
749 | R>G | No |
ClinGen gnomAD |
|
|
rs778775642 CA8502616 |
750 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs541299834 CA290038923 |
752 | P>S | No |
ClinGen gnomAD |
|
|
rs1354357753 CA399111402 |
753 | S>L | No |
ClinGen gnomAD |
|
|
rs754770413 CA8502615 |
755 | N>I | No |
ClinGen ExAC gnomAD |
|
|
CA290038922 rs1041163796 |
756 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1041163796 CA399111325 |
756 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs766299208 CA8502613 |
757 | P>L | No |
ClinGen ExAC gnomAD |
|
|
COSM977898 rs762086056 CA399111269 |
758 | T>I | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs762086056 CA8502612 |
758 | T>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA290038892 rs1049928797 |
762 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
| TCGA novel | 765 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs199939770 CA290038864 |
765 | P>L | No |
ClinGen 1000Genomes gnomAD |
|
|
rs150521243 COSM109181 CA290038879 |
765 | P>S | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA399111077 rs1206372096 |
766 | E>G | No |
ClinGen gnomAD |
|
|
CA399111012 rs1272224376 |
768 | E>G | No |
ClinGen gnomAD |
|
|
rs546044791 COSM1382459 CA8502608 |
768 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes NCI-TCGA TOPMed |
|
CA399111002 rs1419316722 |
769 | W>R | No |
ClinGen TOPMed |
|
|
CA290038847 rs150899761 |
774 | Q>* | No |
ClinGen ESP TOPMed |
|
|
CA399110801 rs1304192980 |
777 | L>S | No |
ClinGen gnomAD |
|
|
CA8502605 rs199944678 |
778 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs541914273 CA8502603 |
778 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs541914273 CA8502604 COSM185107 |
778 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA399110770 rs1224905204 |
779 | I>S | No |
ClinGen TOPMed |
|
|
CA399110758 rs1364314959 |
780 | K>N | No |
ClinGen gnomAD |
|
|
CA8502600 rs746598523 |
783 | L>W | No |
ClinGen ExAC gnomAD |
|
|
CA8502599 rs574471246 |
784 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs747649998 COSM126295 CA8502597 |
785 | V>A | upper_aerodigestive_tract Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA8502598 rs142470821 |
785 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1178872830 CA399110620 |
789 | M>I | No |
ClinGen gnomAD |
|
|
CA399110636 rs778886502 |
789 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA399110627 rs1251157412 |
789 | M>T | No |
ClinGen gnomAD |
|
|
CA8502596 rs778886502 |
789 | M>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 790 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8502595 rs148600188 |
790 | T>N | No |
ClinGen ESP ExAC gnomAD |
|
|
rs749269422 CA8502594 |
791 | C>W | No |
ClinGen ExAC TOPMed |
|
|
CA8502592 rs192840240 |
793 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs143462796 CA8502590 |
794 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs147143249 CA8502591 |
794 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8502589 rs201730196 |
795 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8502587 rs371750493 |
796 | C>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs371750493 CA399110512 |
796 | C>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs765384210 CA8502586 |
796 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1369308727 CA399110482 |
797 | R>K | No |
ClinGen gnomAD |
|
|
CA399110459 rs766672845 |
798 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA8502584 rs766672845 |
798 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA8502582 rs761087261 |
798 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8502583 rs766672845 |
798 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA290038740 rs968871089 |
799 | F>L | No |
ClinGen TOPMed |
|
|
rs772914339 CA8502580 |
799 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs1364439950 CA399110420 |
800 | F>L | No |
ClinGen gnomAD |
|
|
CA399110379 rs1394359792 |
801 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA8502578 rs747856887 |
801 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA8502579 rs771670301 |
801 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs773694816 COSM341741 CA8502577 |
802 | R>K | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA8502576 rs768284676 |
804 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399110314 rs1259242479 |
805 | S>P | No |
ClinGen gnomAD |
|
|
CA8502575 rs567083866 |
810 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1224783779 CA399110204 |
811 | V>L | No |
ClinGen gnomAD |
|
| TCGA novel | 814 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8502574 rs780194683 |
814 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1322820152 CA399110133 |
815 | T>A | No |
ClinGen TOPMed |
|
|
CA8502572 rs200608504 |
815 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA399110131 rs200608504 |
815 | T>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA8502571 rs147085136 |
816 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
RCV000890196 rs147085136 CA8502570 |
816 | A>T | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA8502569 rs752999020 |
816 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8502567 rs755064299 |
817 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766940314 CA8502565 |
818 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA8502566 rs754331270 |
818 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA8502562 rs531042478 |
821 | H>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs750701711 CA8502563 |
821 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8502561 rs3803860 VAR_031494 |
822 | Y>C | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA8502559 rs768263984 |
823 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs545102309 CA290038667 |
824 | Y>* | No |
ClinGen 1000Genomes TOPMed |
|
|
CA8502558 rs762616771 |
824 | Y>D | No |
ClinGen ExAC gnomAD |
|
|
CA8502557 rs775534496 |
824 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8502556 rs769904378 |
825 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399109835 rs1185195857 |
829 | A>E | No |
ClinGen gnomAD |
|
|
rs1485017945 CA399109790 |
831 | R>S | No |
ClinGen gnomAD |
|
| TCGA novel | 832 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA399109719 rs1162497340 |
834 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA399109708 rs780813397 CA8502554 |
835 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780813397 CA399109711 |
835 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8502553 rs376285868 |
841 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs755048082 CA8502550 |
842 | C>F | No |
ClinGen ExAC gnomAD |
|
|
CA399109566 rs1413018350 |
842 | C>R | No |
ClinGen gnomAD |
|
|
rs755048082 CA8502551 |
842 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA399109542 rs1313472289 |
843 | D>N | No |
ClinGen gnomAD |
|
|
rs1567814235 CA399109522 |
844 | M>I | No |
ClinGen Ensembl |
|
|
CA8502548 rs560233202 |
844 | M>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201024518 CA8502549 |
844 | M>V | No |
ClinGen 1000Genomes ExAC |
|
|
CA399109512 rs1167143724 |
845 | L>F | No |
ClinGen gnomAD |
|
|
rs756537370 CA8502547 |
846 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs767716513 CA8502545 |
847 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8502546 rs750944259 |
847 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399109491 rs995622325 |
848 | H>D | No |
ClinGen TOPMed gnomAD |
|
|
rs995622325 CA290038607 |
848 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA399109459 rs1189319387 |
850 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1480012906 CA399109440 |
851 | L>F | No |
ClinGen gnomAD |
|
|
rs751248320 CA8502543 |
852 | D>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1444664765 CA399109438 |
852 | D>N | No |
ClinGen gnomAD |
|
|
CA8502541 rs762527459 |
853 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA399109398 rs1201532341 |
853 | S>N | No |
ClinGen gnomAD |
|
|
rs775094329 CA8502540 |
853 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8502537 rs776647622 |
855 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA8502538 rs138598063 |
855 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA290038557 rs150159511 |
856 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed gnomAD |
|
CA399109359 rs150159511 |
856 | R>G | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs939685161 CA290038552 |
856 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs939685161 CA399109358 COSM3421433 |
856 | R>Q | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
| TCGA novel | 857 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1440972148 CA399109323 |
858 | S>* | No |
ClinGen TOPMed |
|
| TCGA novel | 859 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA399109307 rs1328037924 |
859 | G>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs746890335 CA8502535 |
859 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs780041133 CA8502531 |
860 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA399109300 rs367798201 |
860 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA399109282 rs1418072586 |
861 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA8502530 rs756232278 |
861 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA399109249 rs1164517180 |
863 | S>I | No |
ClinGen gnomAD |
|
|
rs781754776 CA8502528 |
864 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs746343678 CA8502529 |
864 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757527921 CA8502527 |
865 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs937979082 CA290038515 |
866 | F>S | No |
ClinGen TOPMed |
|
|
CA399109195 rs1469878291 |
866 | F>V | No |
ClinGen TOPMed |
|
|
CA290038511 CA8502526 rs752016794 |
867 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV001261797 rs1203408796 CA399109164 |
868 | I>T | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA399109124 rs1240392186 |
870 | P>L | No |
ClinGen gnomAD |
|
|
rs1285699168 CA399109051 |
875 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1273995360 CA399109045 |
876 | A>T | No |
ClinGen gnomAD |
|
|
rs1318516077 CA399109021 |
877 | I>N | No |
ClinGen TOPMed |
|
|
rs979292682 CA290038507 |
879 | P>T | No |
ClinGen TOPMed |
|
|
rs141788369 CA8502524 |
880 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8502523 rs62079540 |
881 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8502522 rs764598613 |
884 | C>F | No |
ClinGen ExAC gnomAD |
|
|
CA290038490 rs541847558 |
886 | A>V | No |
ClinGen gnomAD |
|
|
CA290038488 rs867945382 |
887 | S>A | No |
ClinGen Ensembl |
|
|
CA8502520 rs776428899 |
888 | R>T | No |
ClinGen ExAC gnomAD |
|
|
rs1278435784 CA399108748 |
891 | Q>* | No |
ClinGen gnomAD |
|
|
rs766381391 CA8502517 |
891 | Q>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA8502516 rs760443007 |
892 | H>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1355893738 CA399108718 |
892 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs956026505 CA290038451 |
895 | I>T | No |
ClinGen TOPMed |
|
|
rs772949390 CA8502515 |
897 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA399108620 rs1224048511 |
898 | W>C | No |
ClinGen gnomAD |
|
|
rs775747386 CA8502512 |
898 | W>S | No |
ClinGen ExAC gnomAD |
|
|
rs1445394399 CA399108591 |
900 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1567813722 CA399108593 |
900 | G>S | No |
ClinGen Ensembl |
|
|
CA8502510 COSM1288075 rs745996688 |
901 | H>R | Variant assessed as Somatic; 0.0 impact. autonomic_ganglia [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs769754119 CA8502511 |
901 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1355809161 CA399108560 |
902 | H>Q | No |
ClinGen gnomAD |
|
|
CA8502509 rs781525572 |
902 | H>W | No |
ClinGen ExAC gnomAD |
No associated diseases with Q7Z7L1
Functions
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
| site of DNA damage | A region of a chromosome at which DNA damage has occurred. DNA damage signaling and repair proteins accumulate at the lesion to respond to the damage and repair the DNA to form a continuous DNA helix. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| ATP hydrolysis activity | Catalysis of the reaction: ATP + H2O = ADP + H+ phosphate. ATP hydrolysis is used in some reactions as an energy source, for example to catalyze a reaction or drive transport against a concentration gradient. |
| helicase activity | Catalysis of the reaction: ATP + H2O = ADP + phosphate, to drive the unwinding of a DNA or RNA helix. |
| tRNA binding | Binding to a transfer RNA. |
7 GO annotations of biological process
| Name | Definition |
|---|---|
| cellular response to DNA damage stimulus | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating damage to its DNA from environmental insults or errors during metabolism. |
| defense response to virus | Reactions triggered in response to the presence of a virus that act to protect the cell or organism. |
| immune system process | Any process involved in the development or functioning of the immune system, an organismal system for calibrated responses to potential internal or invasive threats. |
| negative regulation of DNA replication | Any process that stops, prevents, or reduces the frequency, rate or extent of DNA replication. |
| negative regulation of G1/S transition of mitotic cell cycle | 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 mitotic cell cycle. |
| positive regulation of cell death | Any process that increases the rate or frequency of cell death. Cell death is the specific activation or halting of processes within a cell so that its vital functions markedly cease, rather than simply deteriorating gradually over time, which culminates in cell death. |
| replication fork arrest | Any process that stops, prevents, or reduces the frequency, rate or extent of DNA replication by impeding the progress of the DNA replication fork. Replication fork arrest is one of the 'quality control' processes ensuring that DNA-dependent DNA replication occurs correctly. DNA replication fork arrest during DNA-dependent DNA replication is not known to occur outside of cases where a replication error needs to be prevented or corrected. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P0C7P3 | SLFN14 | Protein SLFN14 | Homo sapiens (Human) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MEANQCPLVV | EPSYPDLVIN | VGEVTLGEEN | RKKLQKIQRD | QEKERVMRAA | CALLNSGGGV |
| 70 | 80 | 90 | 100 | 110 | 120 |
| IRMAKKVEHP | VEMGLDLEQS | LRELIQSSDL | QAFFETKQQG | RCFYIFVKSW | SSGPFPEDRS |
| 130 | 140 | 150 | 160 | 170 | 180 |
| VKPRLCSLSS | SLYRRSETSV | RSMDSREAFC | FLKTKRKPKI | LEEGPFHKIH | KGVYQELPNS |
| 190 | 200 | 210 | 220 | 230 | 240 |
| DPADPNSDPA | DLIFQKDYLE | YGEILPFPES | QLVEFKQFST | KHFQEYVKRT | IPEYVPAFAN |
| 250 | 260 | 270 | 280 | 290 | 300 |
| TGGGYLFIGV | DDKSREVLGC | AKENVDPDSL | RRKIEQAIYK | LPCVHFCQPQ | RPITFTLKIV |
| 310 | 320 | 330 | 340 | 350 | 360 |
| NVLKRGELYG | YACMIRVNPF | CCAVFSEAPN | SWIVEDKYVC | SLTTEKWVGM | MTDTDPDLLQ |
| 370 | 380 | 390 | 400 | 410 | 420 |
| LSEDFECQLS | LSSGPPLSRP | VYSKKGLEHK | KELQQLLFSV | PPGYLRYTPE | SLWRDLISEH |
| 430 | 440 | 450 | 460 | 470 | 480 |
| RGLEELINKQ | MQPFFRGILI | FSRSWAVDLN | LQEKPGVICD | ALLIAQNSTP | ILYTILREQD |
| 490 | 500 | 510 | 520 | 530 | 540 |
| AEGQDYCTRT | AFTLKQKLVN | MGGYTGKVCV | RAKVLCLSPE | SSAEALEAAV | SPMDYPASYS |
| 550 | 560 | 570 | 580 | 590 | 600 |
| LAGTQHMEAL | LQSLVIVLLG | FRSLLSDQLG | CEVLNLLTAQ | QYEIFSRSLR | KNRELFVHGL |
| 610 | 620 | 630 | 640 | 650 | 660 |
| PGSGKTIMAM | KIMEKIRNVF | HCEAHRILYV | CENQPLRNFI | SDRNICRAET | RKTFLRENFE |
| 670 | 680 | 690 | 700 | 710 | 720 |
| HIQHIVIDEA | QNFRTEDGDW | YGKAKSITRR | AKGGPGILWI | FLDYFQTSHL | DCSGLPPLSD |
| 730 | 740 | 750 | 760 | 770 | 780 |
| QYPREELTRI | VRNADPIAKY | LQKEMQVIRS | NPSFNIPTGC | LEVFPEAEWS | QGVQGTLRIK |
| 790 | 800 | 810 | 820 | 830 | 840 |
| KYLTVEQIMT | CVADTCRRFF | DRGYSPKDVA | VLVSTAKEVE | HYKYELLKAM | RKKRVVQLSD |
| 850 | 860 | 870 | 880 | 890 | 900 |
| ACDMLGDHIV | LDSVRRFSGL | ERSIVFGIHP | RTADPAILPN | VLICLASRAK | QHLYIFPWGG |
| H |