Q7Z7M9
PR
Gene name |
GALNT5 |
Protein name |
Polypeptide N-acetylgalactosaminyltransferase 5 |
Names |
Polypeptide GalNAc transferase 5, GalNAc-T5, pp-GaNTase 5, Protein-UDP acetylgalactosaminyltransferase 5, UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 5 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:11227 |
EC number |
2.4.1.41: Hexosyltransferases |
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for Q7Z7M9
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q7Z7M9-F1 | Predicted | AlphaFoldDB |
829 variants for Q7Z7M9
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1361829747 CA348683696 |
2 | N>H | No |
ClinGen TOPMed |
|
|
rs376299726 CA1917242 |
3 | R>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1413569344 CA348683714 |
4 | I>T | No |
ClinGen gnomAD |
|
|
CA1917243 rs776715672 |
5 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA1917244 rs761786921 |
5 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA1917245 rs201844162 |
6 | K>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1335731640 CA348683737 |
8 | F>L | No |
ClinGen gnomAD |
|
|
CA1917247 rs754872390 |
9 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348683743 rs754872390 |
9 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs545992512 CA1917248 |
9 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1203274665 CA348683746 |
10 | G>R | No |
ClinGen gnomAD |
|
|
rs1574006052 CA348683758 |
11 | S>R | No |
ClinGen Ensembl |
|
|
CA348683763 rs1261450179 |
12 | G>E | No |
ClinGen gnomAD |
|
|
rs755722602 CA1917250 |
13 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1917252 rs571258114 |
13 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1558885857 CA348683771 |
14 | V>D | No |
ClinGen Ensembl |
|
|
rs756713064 CA1917253 |
14 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756713064 CA348683769 |
14 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348683799 rs1417315730 |
18 | I>T | No |
ClinGen gnomAD |
|
|
CA348683802 rs928987779 |
19 | F>I | No |
ClinGen gnomAD |
|
|
CA59239619 rs928987779 |
19 | F>V | No |
ClinGen gnomAD |
|
|
CA348683812 rs1486062850 |
20 | V>A | No |
ClinGen TOPMed |
|
|
rs772446293 CA1917256 |
20 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348683817 rs1402085199 |
21 | A>V | No |
ClinGen gnomAD |
|
|
rs775790487 CA1917257 |
23 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA348683832 rs1297174683 |
24 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA59239620 rs757949716 |
27 | L>F | No |
ClinGen Ensembl |
|
| TCGA novel | 30 | M>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1917260 rs776714283 |
30 | M>K | No |
ClinGen ExAC gnomAD |
|
|
CA1917259 rs768981861 |
30 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA1917261 rs761997163 |
31 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA348683885 rs1281748166 |
31 | A>V | No |
ClinGen gnomAD |
|
|
rs1219474591 CA348683890 |
32 | A>G | No |
ClinGen gnomAD |
|
|
rs1320321904 CA348683887 |
32 | A>P | No |
ClinGen gnomAD |
|
|
rs1202725703 CA348683893 |
33 | L>V | No |
ClinGen TOPMed |
|
|
CA1917263 rs201125505 |
34 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1917264 rs140376340 |
34 | R>H | No |
ClinGen ESP ExAC gnomAD |
|
|
CA1917265 rs767421561 |
35 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1917266 rs752478927 |
36 | S>* | No |
ClinGen ExAC gnomAD |
|
|
CA348683923 rs1197065657 |
38 | S>N | No |
ClinGen gnomAD |
|
|
CA1917267 rs755844851 |
40 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs763869457 CA348683956 |
43 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1169234636 CA348683959 |
43 | R>L | No |
ClinGen gnomAD |
|
|
rs1169234636 CA348683957 |
43 | R>Q | No |
ClinGen gnomAD |
|
|
rs763869457 CA1917268 COSM716237 |
43 | R>W | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1370844400 CA348683962 |
44 | V>F | No |
ClinGen gnomAD |
|
|
CA348683964 rs1574006199 |
44 | V>G | No |
ClinGen Ensembl |
|
|
CA348683960 rs1370844400 |
44 | V>I | No |
ClinGen gnomAD |
|
|
rs148067549 CA1917270 |
46 | K>N | No |
ClinGen ESP ExAC gnomAD |
|
|
rs141405869 CA1917271 |
47 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1917272 rs539112550 |
49 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA59239622 rs901689649 |
50 | V>M | No |
ClinGen Ensembl |
|
|
rs780527773 CA1917274 |
51 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200493493 CA1917276 |
54 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1917275 rs747442167 |
54 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs150999331 CA1917278 |
55 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA59239623 rs1031742238 |
55 | I>T | No |
ClinGen Ensembl |
|
|
CA348684038 rs1170865134 |
56 | G>E | No |
ClinGen TOPMed |
|
| TCGA novel | 57 | F>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 58 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs769951703 CA1917279 |
61 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs773361338 CA1917280 |
63 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA348684092 rs772190687 |
64 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1917282 rs772190687 COSM476056 |
64 | G>E | kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs759556795 CA1917281 |
64 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs775560997 CA1917283 |
66 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775560997 CA348684106 |
66 | I>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 68 | Y>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs970645458 CA59239625 |
71 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
CA1917285 rs763774113 |
71 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
rs970645458 CA348684141 |
71 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1175636571 CA348684154 |
73 | E>* | No |
ClinGen TOPMed |
|
|
CA1917286 rs753550677 |
73 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761331227 CA1917287 |
74 | M>K | No |
ClinGen ExAC gnomAD |
|
|
rs551225376 CA1917288 |
75 | K>E | No |
ClinGen 1000Genomes ExAC |
|
|
VAR_019578 CA1917289 rs3739112 COSM148960 |
77 | P>L | stomach [Cosmic] | No |
ClinGen cosmic curated UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1485841604 CA348684189 |
78 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA1917291 rs142296819 |
79 | R>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1917292 rs751992527 |
80 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA1917293 rs755395227 |
81 | H>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA1917294 rs781374233 |
82 | G>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 82 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs148596716 CA1917296 |
85 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA348684245 rs1415975237 |
87 | G>D | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 89 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1917297 rs778124776 |
89 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA1917298 rs778124776 |
89 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA348684303 rs1354172480 |
95 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA1917299 rs771100891 |
95 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA1917300 CA348684310 rs775616449 |
96 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA348684304 rs1214864945 |
96 | E>K | No |
ClinGen gnomAD |
|
|
rs760479696 CA1917301 |
97 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs1298432305 CA348684313 |
97 | S>N | No |
ClinGen TOPMed |
|
|
rs373325768 CA1917302 |
98 | V>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1182071615 CA348684318 |
98 | V>M | No |
ClinGen gnomAD |
|
|
CA348684323 rs1442198691 |
99 | L>I | No |
ClinGen gnomAD |
|
|
CA348684338 rs1392054783 |
101 | V>L | No |
ClinGen TOPMed |
|
|
rs761657627 CA1917304 |
103 | V>A | No |
ClinGen ExAC |
|
|
rs776221240 CA1917303 |
103 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA348684355 rs1401764926 |
104 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA1917307 rs750046899 |
106 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1467790031 CA348684370 |
106 | D>N | No |
ClinGen gnomAD |
|
|
rs1467790031 CA348684371 |
106 | D>Y | No |
ClinGen gnomAD |
|
|
rs765829357 CA1917308 |
107 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs1461900848 CA348684380 |
107 | Q>R | No |
ClinGen TOPMed |
|
|
rs752142670 CA59239629 |
108 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1917309 rs752142670 |
108 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA59239630 rs540174461 |
109 | Q>H | No |
ClinGen gnomAD |
|
|
rs755375721 CA1917310 |
109 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs781632410 CA1917311 |
110 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1304673237 CA348684428 |
114 | M>T | No |
ClinGen gnomAD |
|
|
CA348684434 rs1251482314 |
115 | Q>* | No |
ClinGen TOPMed |
|
|
rs938848668 CA59239631 |
115 | Q>L | No |
ClinGen Ensembl |
|
|
CA348684452 rs1313676454 |
117 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs753057746 CA1917312 |
118 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA348684458 rs756540549 CA1917313 |
119 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1456913743 CA348684472 |
121 | G>D | No |
ClinGen TOPMed |
|
|
CA1917314 rs778176124 |
123 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1917317 rs144546271 |
125 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1917316 rs757434719 |
125 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs768418395 CA1917319 |
126 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs776627268 CA1917320 |
128 | H>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1405687403 CA348684520 |
129 | P>T | No |
ClinGen gnomAD |
|
|
CA348684529 rs1468400119 |
130 | A>E | No |
ClinGen gnomAD |
|
|
CA59239632 rs919036613 |
131 | H>Q | No |
ClinGen Ensembl |
|
|
rs1333522076 CA348684534 |
131 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA348684584 rs1441406297 |
139 | P>A | No |
ClinGen gnomAD |
|
|
CA59239634 rs911358099 |
139 | P>L | No |
ClinGen TOPMed |
|
|
rs911358099 CA348684586 |
139 | P>R | No |
ClinGen TOPMed |
|
|
CA59239635 rs936169483 |
141 | K>T | No |
ClinGen TOPMed |
|
|
rs773680489 CA1917326 |
142 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs1558886208 CA348684609 |
143 | K>Q | No |
ClinGen Ensembl |
|
|
rs1273117154 CA348684627 |
145 | D>G | No |
ClinGen gnomAD |
|
|
CA1917329 rs767972937 |
145 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA348684623 rs767972937 |
145 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs112355701 COSM1325848 CA1917331 |
146 | G>R | ovary [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA1917333 rs754144547 |
147 | R>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348684652 rs1200655739 |
149 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA348684653 rs1194651761 |
150 | K>Q | No |
ClinGen TOPMed |
|
|
rs371955379 CA59239636 |
151 | P>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed gnomAD |
|
CA348684670 rs1574006713 |
152 | E>G | No |
ClinGen Ensembl |
|
|
CA348684674 rs1205083807 |
153 | A>T | No |
ClinGen TOPMed |
|
|
CA1917335 rs557180693 |
153 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM716235 rs1286119361 CA348684683 |
154 | S>C | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA1917336 rs746004165 |
155 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA348684687 rs1218270727 |
155 | S>P | No |
ClinGen TOPMed |
|
|
CA348684693 rs1351585409 |
156 | H>R | No |
ClinGen gnomAD |
|
|
rs201587440 CA1917337 |
156 | H>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA59239637 rs867546811 |
157 | Q>* | No |
ClinGen Ensembl |
|
|
CA348684704 rs1343344767 |
158 | G>R | No |
ClinGen gnomAD |
|
|
CA59239638 rs1011665451 |
158 | G>V | No |
ClinGen Ensembl |
|
|
rs1212345048 CA348684719 |
160 | P>L | No |
ClinGen gnomAD |
|
|
rs375064571 CA1917340 |
160 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA348684724 rs1574006777 |
161 | K>R | No |
ClinGen Ensembl |
|
|
rs772928823 CA1917341 |
163 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770550252 CA1917343 |
164 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA348684746 rs1381583634 |
165 | A>T | No |
ClinGen TOPMed |
|
|
CA348684764 rs1489943048 |
167 | G>A | No |
ClinGen gnomAD |
|
| TCGA novel | 168 | A>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 168 | A>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1300098154 CA348684774 |
169 | P>A | No |
ClinGen TOPMed |
|
|
CA348684790 rs1195640596 |
171 | T>I | No |
ClinGen gnomAD |
|
|
CA348684812 rs1166292463 |
174 | I>M | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 175 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA348684826 rs1416033453 |
177 | K>E | No |
ClinGen gnomAD |
|
|
rs759005432 CA1917345 |
178 | G>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1917347 rs775879673 |
178 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs759005432 CA1917346 |
178 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1917350 rs143634326 |
179 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs61748237 CA1917348 |
179 | T>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1917349 rs143634326 |
179 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs757682527 CA1917351 |
180 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA59239641 rs961784683 |
182 | V>A | No |
ClinGen TOPMed |
|
|
rs1035968461 CA59239640 |
182 | V>L | No |
ClinGen Ensembl |
|
|
rs750638166 CA1917353 |
184 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA1917352 rs570752331 |
184 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA59239643 COSM3770918 rs922632241 |
185 | S>* | pancreas [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs758430009 CA59239642 |
185 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758430009 CA1917354 |
185 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752639731 CA1917356 |
186 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA348684877 rs755990297 |
187 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348684879 rs1357896375 |
187 | H>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1357896375 CA348684881 |
187 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs755990297 CA1917357 |
187 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348684887 rs1156752633 |
188 | M>K | No |
ClinGen TOPMed gnomAD |
|
|
CA348684888 rs1156752633 |
188 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
COSM1007999 CA348684899 rs1226497432 |
190 | R>C | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs1341047438 CA348684902 |
190 | R>H | No |
ClinGen TOPMed |
|
|
CA348684903 rs1341047438 |
190 | R>P | No |
ClinGen TOPMed |
|
| TCGA novel | 191 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1917359 rs749144599 |
192 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs770726415 CA1917360 |
196 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA1917361 rs540292162 |
197 | P>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs540292162 CA1917362 |
197 | P>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 198 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs775073923 CA1917364 |
198 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1917363 rs771512905 |
198 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs985669965 CA59239644 |
199 | K>E | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 200 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA59239645 rs984564315 |
201 | H>R | No |
ClinGen Ensembl |
|
|
rs1398609750 CA348684985 |
203 | P>T | No |
ClinGen gnomAD |
|
| TCGA novel | 204 | S>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 206 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA348685008 rs1406214121 |
206 | D>H | No |
ClinGen gnomAD |
|
|
CA1917368 rs762134790 |
207 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 215 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA59239646 rs866363296 |
215 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA1917370 rs750643998 |
218 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA348685088 rs1574006978 |
218 | V>M | No |
ClinGen Ensembl |
|
|
CA1917371 rs763172003 |
220 | I>S | No |
ClinGen ExAC gnomAD |
|
|
rs1574006987 CA348685105 |
221 | S>R | No |
ClinGen Ensembl |
|
|
rs766386766 CA59239647 |
222 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1917372 rs766386766 |
222 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751698869 CA1917373 |
224 | T>I | No |
ClinGen ExAC TOPMed |
|
|
rs755049911 CA1917374 |
225 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs755049911 CA348685130 |
225 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1203162366 CA348685149 |
227 | P>L | No |
ClinGen gnomAD |
|
|
CA348685147 rs1203162366 |
227 | P>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA348685145 rs1461922425 |
227 | P>S | No |
ClinGen gnomAD |
|
|
CA1917375 rs372387793 |
229 | Q>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs372387793 CA348685161 |
229 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA348685166 rs1172507555 |
230 | R>* | No |
ClinGen gnomAD |
|
|
rs757021329 CA1917377 |
230 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745510377 CA1917379 |
232 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs375518579 CA1917381 |
232 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1917382 rs146507733 |
233 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1917385 rs150890101 |
237 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs150890101 CA348685206 |
237 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1328489432 CA348685226 |
240 | H>N | No |
ClinGen TOPMed |
|
|
CA348685229 rs1574007074 |
240 | H>P | No |
ClinGen Ensembl |
|
|
rs1328489432 CA348685227 |
240 | H>Y | No |
ClinGen TOPMed |
|
|
rs1402941615 CA348685234 |
241 | P>T | No |
ClinGen TOPMed |
|
|
CA348685246 rs1163315991 |
243 | S>G | No |
ClinGen TOPMed |
|
|
rs770059718 CA1917386 |
243 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1312016649 CA348685257 |
244 | T>R | No |
ClinGen gnomAD |
|
|
rs1335565169 CA348685265 |
246 | V>M | No |
ClinGen gnomAD |
|
|
CA1917390 rs763215911 |
247 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348685274 rs763215911 |
247 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751746012 CA1917392 |
249 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA348685285 rs1558886559 |
249 | S>T | No |
ClinGen Ensembl |
|
|
rs1574007139 CA348685298 |
251 | E>A | No |
ClinGen Ensembl |
|
|
rs1361684829 CA348685303 |
252 | A>T | No |
ClinGen TOPMed |
|
|
CA348685312 rs759658117 |
253 | M>K | No |
ClinGen ExAC gnomAD |
|
|
CA1917393 rs759658117 |
253 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1481620784 CA348685326 |
255 | L>S | No |
ClinGen gnomAD |
|
|
CA1917394 rs371803810 |
257 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs753800869 CA1917395 |
259 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs757149965 CA348685362 |
260 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs757149965 CA1917396 |
260 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs1029754320 CA59239649 |
261 | Q>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs905841042 CA59239651 |
261 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs955332621 CA59239650 |
261 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1173728076 COSM1207856 CA348685386 |
264 | E>* | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA1917397 rs764953641 COSM3425351 |
266 | N>S | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs750289797 CA1917398 |
267 | A>E | No |
ClinGen ExAC gnomAD |
|
|
CA348685422 rs1396458565 |
269 | K>R | No |
ClinGen gnomAD |
|
|
rs1290592637 CA348685427 |
270 | H>Y | No |
ClinGen TOPMed |
|
|
rs758122803 CA348685459 |
274 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758122803 CA1917399 |
274 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 275 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 279 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs143195308 CA1917401 |
279 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA1917403 rs376454596 |
280 | K>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1917404 rs748620419 |
280 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs770393243 CA1917405 |
286 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA1917406 rs530452745 |
287 | R>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1917407 rs139242828 |
287 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA348685541 rs530452745 |
287 | R>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1917409 rs774573979 |
289 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA59239652 rs1026197490 |
289 | R>K | No |
ClinGen TOPMed |
|
|
CA348685565 rs1196861859 |
291 | Q>K | No |
ClinGen gnomAD |
|
|
CA348685574 rs1263463873 |
292 | S>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA1917410 rs142592488 |
299 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 301 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1917412 rs775580572 |
303 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA348685661 rs1440216290 |
304 | D>E | No |
ClinGen gnomAD |
|
|
CA59239653 rs946224976 |
305 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA59239654 rs977787949 |
307 | A>G | No |
ClinGen TOPMed |
|
|
CA1917413 rs760655456 |
311 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs769946518 CA1917415 |
312 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758291734 CA1917416 |
314 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1223716694 CA348685747 |
317 | F>L | No |
ClinGen TOPMed |
|
|
CA1917417 rs766237680 |
319 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1382977240 CA348685778 |
322 | L>V | No |
ClinGen gnomAD |
|
|
rs1294961295 CA348685785 |
323 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA348685793 rs1353565448 |
324 | I>T | No |
ClinGen gnomAD |
|
|
CA348685790 rs1558886724 |
324 | I>V | No |
ClinGen Ensembl |
|
|
rs369761672 CA1917418 |
325 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs754620922 CA1917419 |
326 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754620922 CA1917420 |
326 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1292342436 CA348685830 |
330 | E>K | No |
ClinGen gnomAD |
|
|
CA348685846 rs1301572946 |
332 | K>Q | No |
ClinGen TOPMed |
|
|
rs140865095 CA1917422 |
333 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA348685864 rs1368778216 |
334 | D>V | No |
ClinGen TOPMed |
|
|
rs778389979 CA1917425 |
337 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348685888 rs1419855261 |
338 | V>I | No |
ClinGen TOPMed |
|
|
rs895063247 CA59239657 |
342 | K>N | No |
ClinGen TOPMed |
|
| TCGA novel | 343 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 343 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1259066267 CA348685931 |
344 | K>R | No |
ClinGen gnomAD |
|
|
CA59239658 rs1038299421 |
346 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs147858531 CA1917427 |
346 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA59239659 rs144689586 COSM106317 |
348 | P>S | Variant assessed as Somatic; impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs1425611973 CA348685961 |
349 | K>* | No |
ClinGen TOPMed |
|
|
rs552135582 CA1917428 |
349 | K>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1917429 rs746101683 |
350 | V>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348685972 rs374092725 |
351 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs896943109 CA59239660 |
352 | G>R | No |
ClinGen TOPMed |
|
| TCGA novel | 352 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1163201437 CA348685982 |
352 | G>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1369802441 CA348685995 |
354 | S>N | No |
ClinGen gnomAD |
|
|
CA1917431 rs775570741 |
355 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1454506836 CA348686010 |
356 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA348686012 rs1454506836 |
356 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
CA348686019 rs1288468392 |
357 | K>R | No |
ClinGen gnomAD |
|
| TCGA novel | 361 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1386569143 CA348686050 |
361 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA1917432 rs760847613 |
362 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs764032093 CA1917433 |
363 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs749274977 CA59239661 |
365 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
rs762919786 CA1917435 |
366 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA1917436 rs146451636 |
367 | S>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1917438 rs528216306 |
367 | S>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1917437 rs146451636 |
367 | S>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA348686091 rs1462362720 |
368 | S>P | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 369 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA348686105 rs1272470084 |
370 | S>* | No |
ClinGen gnomAD |
|
|
CA348686116 rs878875460 |
372 | A>D | No |
ClinGen gnomAD |
|
|
rs148143719 CA59239662 |
372 | A>T | No |
ClinGen ESP gnomAD |
|
|
CA59239663 rs878875460 |
372 | A>V | No |
ClinGen gnomAD |
|
|
rs1410658300 CA348686122 |
373 | P>R | No |
ClinGen gnomAD |
|
|
CA348686120 rs1180553382 |
373 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1006877452 CA59239664 |
375 | R>K | No |
ClinGen TOPMed |
|
|
rs1006877452 CA348686134 |
375 | R>T | No |
ClinGen TOPMed |
|
|
rs1410081999 CA348686141 |
376 | V>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA1917441 rs755669329 |
376 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1405373331 CA348686147 |
377 | P>L | No |
ClinGen gnomAD |
|
|
rs777103368 CA1917442 |
377 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754372381 CA1917443 |
378 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348686158 rs1373816641 |
380 | Q>K | No |
ClinGen gnomAD |
|
|
CA348686166 rs141519466 |
381 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1917445 rs141519466 |
381 | T>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs139157095 CA59239666 |
383 | H>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs139157095 CA1917446 |
383 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs116434257 CA1917447 |
386 | T>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs148659459 CA1917448 |
387 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1208668715 CA348686217 |
389 | L>P | No |
ClinGen gnomAD |
|
|
rs768785939 CA1917450 |
390 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA1917449 rs747159462 |
390 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA1917451 rs776518076 |
392 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 394 | I>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs773229806 CA59239667 |
395 | N>D | No |
ClinGen Ensembl |
|
|
CA348686255 rs1481551254 |
395 | N>S | No |
ClinGen gnomAD |
|
|
rs147848386 CA1917452 |
396 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 398 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 398 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1172595021 CA348686289 |
400 | A>D | No |
ClinGen gnomAD |
|
|
CA348686284 rs1412788028 |
400 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA348686288 rs1172595021 |
400 | A>V | No |
ClinGen gnomAD |
|
|
rs771062178 CA1917453 |
401 | P>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 401 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 402 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1221006342 CA348686296 |
402 | S>T | No |
ClinGen TOPMed |
|
|
rs201097164 CA59239668 |
403 | T>A | No |
ClinGen Ensembl |
|
|
rs1306019416 CA348686303 |
403 | T>K | No |
ClinGen gnomAD |
|
|
rs1319311250 CA348686326 |
406 | N>S | No |
ClinGen TOPMed |
|
|
CA59239669 rs905981976 |
408 | S>C | No |
ClinGen Ensembl |
|
|
CA59239670 rs1001532257 |
408 | S>N | No |
ClinGen Ensembl |
|
|
rs1057115664 CA59239671 |
409 | H>N | No |
ClinGen gnomAD |
|
|
rs1057115664 CA348686345 |
409 | H>Y | No |
ClinGen gnomAD |
|
|
rs767164780 CA1917456 |
410 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA59239672 rs770849718 |
411 | K>N | No |
ClinGen Ensembl |
|
|
rs1379402297 CA348686366 |
412 | A>S | No |
ClinGen TOPMed |
|
|
CA348686371 rs1273086190 |
413 | L>V | No |
ClinGen gnomAD |
|
| TCGA novel | 414 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA348686379 rs1308657804 |
414 | L>S | No |
ClinGen gnomAD |
|
|
CA1917458 rs760176763 |
418 | S>G | No |
ClinGen ExAC TOPMed |
|
|
CA348686409 rs1399311332 |
418 | S>I | No |
ClinGen TOPMed |
|
|
rs1204998708 CA348686418 |
420 | T>A | No |
ClinGen gnomAD |
|
|
CA1917459 rs763670213 |
420 | T>M | Variant assessed as Somatic; 5.092e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA1917462 rs756754091 |
421 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs61754575 CA59239673 |
422 | Q>L | No |
ClinGen gnomAD |
|
|
CA348686434 rs61754575 |
422 | Q>R | No |
ClinGen gnomAD |
|
| TCGA novel | 425 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1268514394 CA348686461 |
426 | I>T | No |
ClinGen gnomAD |
|
|
rs144570628 CA59239674 |
427 | D>H | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA348686485 rs1477145403 |
430 | L>F | No |
ClinGen gnomAD |
|
|
rs1574007833 CA348686487 |
430 | L>P | No |
ClinGen Ensembl |
|
|
rs779435698 CA1917463 |
433 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs939145608 CA59239676 |
434 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA348686518 rs1172420854 |
435 | P>R | No |
ClinGen gnomAD |
|
|
rs1239572808 CA348686524 |
436 | K>R | No |
ClinGen Ensembl |
|
|
rs1166596563 CA348686543 |
439 | G>E | No |
ClinGen gnomAD |
|
|
rs780216461 CA1917466 |
440 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747270993 CA1917467 |
442 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA1917468 rs140478877 |
443 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM207165 rs150434278 CA1917469 |
443 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA1917470 rs748281656 |
444 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1038669370 CA59239677 |
445 | V>I | No |
ClinGen TOPMed |
|
|
CA1917472 rs769975984 |
447 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1467520829 CA348686595 |
448 | P>R | No |
ClinGen TOPMed |
|
|
rs775087782 CA348686602 |
449 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348686600 rs1321816615 |
449 | H>R | No |
ClinGen TOPMed |
|
|
CA1917475 rs771901704 |
449 | H>Y | No |
ClinGen ExAC TOPMed |
|
|
rs1289611699 CA348686604 |
450 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 450 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1917477 rs760502803 |
451 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs763720467 CA1917478 |
451 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA348686625 rs1242807236 |
453 | K>E | No |
ClinGen gnomAD |
|
|
rs776233107 CA1917479 |
454 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs149187275 CA1917480 |
455 | A>E | No |
ClinGen ESP ExAC gnomAD |
|
|
rs764676525 CA1917482 |
456 | E>G | No |
ClinGen ExAC |
|
|
CA59239679 rs201859629 |
457 | R>I | No |
ClinGen 1000Genomes gnomAD |
|
|
rs1445159449 CA348686659 |
458 | R>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA1917483 rs750934991 |
458 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1917485 rs139013111 CA1917484 |
459 | W>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1402087379 CA348686672 |
460 | K>E | No |
ClinGen gnomAD |
|
|
CA1917486 rs751937516 |
461 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1448806382 CA348686691 |
463 | N>H | No |
ClinGen TOPMed |
|
|
CA1917487 rs137895533 |
463 | N>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA59239680 rs137895533 |
463 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA348686711 rs781617745 CA1917488 |
465 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1917490 rs756297434 |
466 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1917492 rs550649517 |
468 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA59239681 rs370474887 |
470 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1007418768 CA59239682 |
472 | I>N | No |
ClinGen TOPMed |
|
|
CA59239683 rs974474752 |
473 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA348686759 rs974474752 |
473 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA348686775 rs768475075 |
475 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA1917495 rs746818073 |
475 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761389420 CA1917498 |
477 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA1917497 rs776288093 |
477 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs764741645 CA1917499 |
478 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1488483219 CA348686788 |
478 | I>V | No |
ClinGen TOPMed |
|
|
rs772768528 CA1917500 |
481 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA348686823 rs1410823486 |
483 | P>S | No |
ClinGen gnomAD |
|
|
CA348686828 rs1455314252 |
484 | A>S | No |
ClinGen gnomAD |
|
|
rs769504678 CA1917516 |
486 | C>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769504678 CA348660776 |
486 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs139539481 CA1917517 |
488 | E>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
VAR_019579 rs6759356 CA1917518 |
489 | Q>H | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs181245010 CA1917519 |
490 | L>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA348660846 rs1222280143 |
492 | H>L | No |
ClinGen gnomAD |
|
|
rs1285378943 CA348660854 |
493 | N>I | No |
ClinGen gnomAD |
|
|
CA348660850 rs1290372377 |
493 | N>Y | No |
ClinGen TOPMed |
|
|
CA1917522 rs768002617 |
494 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA348660868 rs1574022857 |
494 | N>T | No |
ClinGen Ensembl |
|
|
CA348660902 rs1240980648 |
499 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA1917523 rs753167525 |
500 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs886477725 CA58614576 |
502 | M>T | No |
ClinGen Ensembl |
|
|
CA1917524 rs761114901 |
504 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA348660949 rs1574022892 |
505 | V>G | No |
ClinGen Ensembl |
|
| VAR_035991 | 507 | E>D | a breast cancer sample; somatic mutation [UniProt] | No | UniProt |
|
rs1481928444 CA348660970 |
508 | V>A | No |
ClinGen gnomAD |
|
|
CA348660968 rs1273658591 |
508 | V>L | No |
ClinGen gnomAD |
|
|
CA58614578 rs551076276 |
509 | W>R | No |
ClinGen Ensembl |
|
|
rs764448608 CA1917525 |
511 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1481458651 CA348660989 |
511 | T>I | No |
ClinGen TOPMed |
|
| TCGA novel | 511 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1917527 rs754067832 |
514 | R>K | No |
ClinGen ExAC |
|
|
rs757305711 CA348661006 |
514 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA58614598 rs1012498274 |
521 | N>H | No |
ClinGen TOPMed |
|
|
CA348661053 rs751466241 |
521 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779011189 CA1917529 |
521 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA1917531 rs754968130 |
522 | R>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 522 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA348661059 rs1428278232 |
522 | R>L | No |
ClinGen gnomAD |
|
|
CA348661078 rs1391816341 |
526 | H>N | No |
ClinGen gnomAD |
|
|
rs747978590 CA1917533 |
527 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1917534 rs769557092 |
528 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA348661110 TCGA novel rs1475044053 |
530 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen TOPMed gnomAD NCI-TCGA |
|
CA1917535 rs777316011 |
530 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA348661139 rs1296722247 |
535 | D>G | No |
ClinGen gnomAD |
|
|
CA1917538 rs773848921 |
538 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759099839 CA1917539 |
538 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs559962630 CA58614663 |
540 | K>E | No |
ClinGen Ensembl |
|
|
rs772769659 CA1917540 |
541 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA348661494 rs1331297933 |
542 | Y>H | No |
ClinGen TOPMed |
|
|
rs765537298 CA1917564 |
547 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA1917566 rs763045242 |
548 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1386457174 CA348661567 |
551 | M>I | No |
ClinGen gnomAD |
|
|
rs142828403 CA348661564 |
551 | M>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs142828403 CA1917567 |
551 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs752639606 CA1917568 |
552 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA348661575 rs1303304913 |
553 | Q>* | No |
ClinGen gnomAD |
|
|
CA58615448 rs936206081 |
553 | Q>R | No |
ClinGen TOPMed |
|
|
CA348661608 rs763921291 |
558 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs143760060 CA1917571 |
558 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA348661609 rs763921291 COSM441280 |
558 | R>W | large_intestine Variant assessed as Somatic; impact. skin breast [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA348661615 rs1329505359 |
559 | I>N | No |
ClinGen gnomAD |
|
|
rs1282191592 CA348661612 |
559 | I>V | No |
ClinGen gnomAD |
|
|
CA1917572 rs758078817 COSM207168 |
561 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs202106852 CA1917573 COSM1207854 |
561 | R>H | large_intestine Variant assessed as Somatic; 4.62e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs372959721 CA1917574 |
564 | E>A | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1206148221 CA348661650 |
565 | R>G | No |
ClinGen gnomAD |
|
| TCGA novel | 567 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA348661679 rs1470400534 |
569 | I>V | No |
ClinGen Ensembl |
|
|
CA1917577 rs140702775 |
570 | R>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1192636315 CA348661694 |
571 | A>G | No |
ClinGen TOPMed |
|
|
rs1052173374 CA58615501 |
571 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1218164685 CA348661712 |
574 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA348661714 rs1473043542 |
575 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1263401247 CA348661728 |
577 | Q>* | No |
ClinGen gnomAD |
|
|
CA348661730 rs1409873579 |
577 | Q>R | No |
ClinGen gnomAD |
|
|
CA1917580 rs561786109 |
579 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs916039964 CA58615517 |
581 | G>S | No |
ClinGen Ensembl |
|
|
rs1258363571 CA348662778 |
583 | V>A | No |
ClinGen TOPMed |
|
|
rs917135393 CA58620924 |
584 | L>F | No |
ClinGen gnomAD |
|
| TCGA novel | 585 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA58620927 rs992721228 |
585 | T>S | No |
ClinGen TOPMed |
|
|
rs1274204838 CA348662832 |
587 | L>S | No |
ClinGen TOPMed |
|
|
CA1917602 rs565062339 |
589 | S>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 589 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA348662913 rs1300509008 |
591 | V>G | No |
ClinGen gnomAD |
|
|
CA348662902 rs1394482450 |
591 | V>L | No |
ClinGen gnomAD |
|
|
rs1394482450 CA348662901 |
591 | V>M | No |
ClinGen gnomAD |
|
|
CA348662916 rs1336471186 |
592 | E>K | No |
ClinGen gnomAD |
|
|
CA348662939 rs1343458981 |
593 | C>Y | No |
ClinGen gnomAD |
|
|
rs138347479 CA1917603 |
595 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA348663040 rs1222500941 |
599 | E>D | No |
ClinGen gnomAD |
|
|
CA348663105 rs1339363540 |
603 | E>G | No |
ClinGen TOPMed |
|
|
rs770196970 CA1917605 |
604 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA1917607 rs778049899 |
605 | V>D | No |
ClinGen ExAC gnomAD |
|
|
CA348663162 rs1348168773 |
607 | L>F | No |
ClinGen TOPMed |
|
|
CA348663160 rs1416104787 |
607 | L>S | No |
ClinGen TOPMed |
|
|
CA348663171 rs1448790584 |
608 | S>N | No |
ClinGen gnomAD |
|
|
CA1917608 rs749636288 |
609 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348663189 rs1405623561 |
610 | K>E | No |
ClinGen gnomAD |
|
|
rs369420643 CA58620977 |
610 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA348663238 rs1161363927 |
613 | A>G | No |
ClinGen TOPMed |
|
|
rs1161363927 CA348663241 |
613 | A>V | No |
ClinGen TOPMed |
|
|
CA348663250 rs1418645124 |
614 | C>S | No |
ClinGen TOPMed |
|
|
rs774528946 CA1917611 |
614 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA1917612 rs759714334 |
615 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1366631489 CA348663265 |
616 | V>I | No |
ClinGen gnomAD |
|
|
rs771999351 CA1917613 |
618 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348663291 rs771999351 |
618 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs776663814 CA1917614 |
619 | V>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761590726 CA1917615 |
622 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA58621012 rs920664115 |
624 | D>N | No |
ClinGen TOPMed |
|
|
rs765139043 CA1917616 |
624 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1248657854 CA348663394 |
625 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA348663644 rs751226709 |
628 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1917639 rs751226709 |
628 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1415536033 CA348663663 |
629 | T>R | No |
ClinGen gnomAD |
|
|
rs79766504 CA1917641 |
630 | V>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1917640 rs184668487 |
630 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs755593513 CA1917643 |
631 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs370944719 CA1917642 |
631 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs754296522 CA1917645 |
633 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1917646 rs141207490 |
634 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1917647 rs779184456 |
636 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA348663724 rs1483886249 |
637 | I>N | No |
ClinGen gnomAD |
|
|
rs540833743 CA1917649 |
641 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs780319135 CA1917650 |
642 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA348663757 rs1471405635 |
642 | M>L | No |
ClinGen gnomAD |
|
|
rs1377642546 CA348663792 |
644 | F>L | No |
ClinGen gnomAD |
|
|
rs879195505 CA58621548 |
645 | G>S | No |
ClinGen Ensembl |
|
|
CA1917652 rs768807173 |
646 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs1374149755 CA348663812 |
646 | W>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1181008905 CA348663819 |
647 | R>T | No |
ClinGen Ensembl |
|
|
rs1432056748 CA348663850 |
650 | P>S | No |
ClinGen gnomAD |
|
|
rs143655797 CA1917653 |
652 | D>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA348663882 rs749169356 |
652 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs974764246 CA348663869 |
652 | D>N | No |
ClinGen TOPMed |
|
|
rs974764246 CA58621559 |
652 | D>Y | No |
ClinGen TOPMed |
|
|
CA1917655 rs770861717 |
653 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs774068981 CA1917657 |
655 | A>V | No |
ClinGen ExAC |
|
| TCGA novel | 657 | N>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs778901995 | 657 | N>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1917658 rs759367131 |
657 | N>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 658 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA348664026 rs1273057539 |
662 | T>I | No |
ClinGen gnomAD |
|
|
rs1344188062 CA348664033 |
663 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1249282719 CA348664419 |
668 | P>R | No |
ClinGen gnomAD |
|
|
rs1189727896 CA348664444 |
669 | V>G | No |
ClinGen gnomAD |
|
|
rs377731573 CA1917676 |
670 | M>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs774309271 CA1917677 |
671 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs371179557 CA1917678 |
672 | G>D | No |
ClinGen ESP ExAC gnomAD |
|
|
rs955410765 CA58623486 |
672 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs955410765 CA348664474 |
672 | G>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 672 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA58623493 rs79235761 |
674 | L>F | No |
ClinGen Ensembl |
|
|
rs763609378 CA1917682 |
674 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs763609378 CA348664501 |
674 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs776179160 CA348664537 |
676 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1917683 rs776179160 |
676 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1917684 rs761309663 |
677 | I>F | No |
ClinGen ExAC |
|
|
CA58623498 rs761309663 |
677 | I>V | No |
ClinGen ExAC |
|
|
rs61748238 CA1917686 |
678 | D>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs763256956 CA1917687 |
678 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA1917685 rs765703920 |
678 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348664569 rs1374443621 |
680 | S>C | No |
ClinGen gnomAD |
|
|
rs149982260 CA1917688 |
680 | S>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
TCGA novel CA348664603 rs1240138768 |
681 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen TOPMed NCI-TCGA |
|
CA1917689 rs751843466 |
681 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
rs755306501 CA1917690 |
682 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
CA58623526 rs143720767 |
683 | F>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
TCGA novel rs1574031805 CA348664659 |
684 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen Ensembl |
|
CA1917692 rs374403954 |
686 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA58623549 rs945161536 |
687 | T>I | No |
ClinGen TOPMed |
|
|
CA1917695 rs140656094 |
688 | Y>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs771770563 CA1917696 |
689 | D>V | No |
ClinGen ExAC gnomAD |
|
| VAR_035992 | 692 | L>F | a breast cancer sample; somatic mutation [UniProt] | No | UniProt |
|
CA348664807 rs370856390 |
693 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1917697 rs199661443 |
693 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1917698 rs746794841 |
693 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs765891724 CA58623563 |
694 | V>I | No |
ClinGen gnomAD |
|
|
rs1158510751 CA348664863 |
695 | W>C | No |
ClinGen gnomAD |
|
|
CA348664867 rs1343418453 |
696 | G>S | No |
ClinGen gnomAD |
|
|
CA1917700 rs151116449 |
697 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA58623566 rs879115913 |
698 | E>Q | No |
ClinGen Ensembl |
|
| TCGA novel | 700 | M>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA348664932 rs1161315343 |
700 | M>V | No |
ClinGen TOPMed |
|
|
CA1917701 rs761334325 |
702 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs141100838 CA1917702 |
702 | L>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs773594887 CA1917703 |
703 | S>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1917704 rs763457764 |
704 | F>L | No |
ClinGen ExAC |
|
|
CA348665065 rs1232626499 |
707 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
rs776116636 CA1917722 |
708 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1917723 rs771507083 |
708 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA348665097 rs1231272887 |
710 | G>C | No |
ClinGen gnomAD |
|
|
rs1199804944 CA348665148 |
713 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA1917725 rs759998391 |
714 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs760896338 CA1917728 |
717 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1452487547 CA348665234 |
720 | R>* | No |
ClinGen gnomAD |
|
|
rs372133363 CA1917729 |
720 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs372133363 CA1917730 |
720 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA58624132 rs138389029 |
723 | H>R | No |
ClinGen ESP TOPMed |
|
| TCGA novel | 724 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 726 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766353321 CA1917732 |
727 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1167824086 CA348665345 |
728 | D>G | No |
ClinGen gnomAD |
|
|
CA348665341 rs1418617008 |
728 | D>Y | No |
ClinGen TOPMed |
|
|
rs751457382 CA1917733 |
729 | N>H | No |
ClinGen ExAC gnomAD |
|
|
rs754772879 CA1917734 |
729 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780905989 CA1917735 |
730 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA1917736 rs747880412 |
731 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs755858697 CA1917737 |
732 | S>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1179228871 CA348665399 |
733 | F>L | No |
ClinGen TOPMed |
|
|
CA1917739 rs748874932 |
734 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs748874932 CA348665424 |
734 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA1917741 rs201528172 |
737 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs770512567 CA1917740 |
737 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1407073550 CA348665467 |
738 | M>L | No |
ClinGen Ensembl |
|
| TCGA novel | 739 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA348665498 rs1222481492 |
740 | T>I | No |
ClinGen gnomAD |
|
|
CA1917743 rs772581313 |
741 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs764418280 CA1917746 |
743 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201197983 CA1917745 |
743 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs761974872 CA1917748 |
746 | V>E | No |
ClinGen ExAC gnomAD |
|
|
CA1917750 rs751512187 |
747 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
COSM1192279 rs765233794 CA1917749 |
747 | R>W | ovary large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA348665549 rs1460357171 |
749 | A>V | No |
ClinGen gnomAD |
|
|
CA348665557 rs1430549199 |
750 | E>D | No |
ClinGen gnomAD |
|
|
rs1366516857 CA348665554 |
750 | E>G | No |
ClinGen gnomAD |
|
|
CA1917752 rs201227260 |
750 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA348665561 rs1225060692 |
751 | V>G | No |
ClinGen TOPMed |
|
|
rs1284506715 CA348665558 |
751 | V>I | No |
ClinGen TOPMed |
|
|
rs371953937 CA1917753 |
752 | W>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs755841445 CA1917754 |
754 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA348665596 rs1467006307 |
756 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA348665594 rs1574032611 |
756 | Y>D | No |
ClinGen Ensembl |
|
|
CA1917756 rs748849451 |
757 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1917757 rs765012525 |
758 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348665616 rs1558902919 |
759 | L>M | No |
ClinGen Ensembl |
|
|
CA1917758 rs778513075 |
759 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs908902102 CA58624273 |
760 | F>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA1917759 rs745360619 |
761 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772775726 CA1917760 |
762 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs200634661 CA1917761 |
763 | H>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1917763 rs768853895 |
764 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1389968125 CA348665682 |
764 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs183831329 CA58624329 |
765 | D>E | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA348665700 rs1400578712 |
765 | D>V | No |
ClinGen gnomAD |
|
|
CA348665716 rs1481647250 |
766 | H>R | No |
ClinGen TOPMed |
|
|
rs200303080 CA348665752 |
769 | D>E | No |
ClinGen 1000Genomes gnomAD |
|
|
CA1917765 COSM232380 rs148260459 |
769 | D>N | skin [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs769988939 CA1917767 |
770 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769988939 CA1917766 |
770 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1242125644 CA348665774 |
771 | G>E | No |
ClinGen TOPMed |
|
|
rs1242125644 CA348665775 |
771 | G>V | No |
ClinGen TOPMed |
|
|
rs1320938971 CA348665797 |
773 | D>G | No |
ClinGen TOPMed |
|
|
CA348665787 rs1288999986 |
773 | D>N | No |
ClinGen gnomAD |
|
|
rs1349874749 CA348665806 |
774 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1349874749 CA348665817 |
774 | V>G | No |
ClinGen TOPMed gnomAD |
|
|
CA348665801 rs1262160482 |
774 | V>I | No |
ClinGen TOPMed |
|
|
rs933228448 CA58624394 |
775 | G>D | No |
ClinGen Ensembl |
|
|
CA1917769 rs767488558 |
776 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1209850725 CA348665838 |
777 | L>F | No |
ClinGen gnomAD |
|
|
CA348665871 rs1362610510 |
780 | Q>K | No |
ClinGen TOPMed |
|
|
rs1255043021 CA348665903 |
782 | E>D | No |
ClinGen gnomAD |
|
|
rs150608062 CA58624436 |
782 | E>K | No |
ClinGen ESP |
|
|
rs1483825460 CA348665908 |
783 | L>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
COSM1008008 CA1917770 rs187784514 |
784 | R>* | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
COSM1207857 rs146330897 CA1917771 |
784 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA1917773 rs139651880 |
789 | C>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1427843535 CA348665996 |
790 | K>E | No |
ClinGen gnomAD |
|
|
CA348666026 rs1558903078 |
791 | S>I | No |
ClinGen Ensembl |
|
|
CA348666022 rs1415447768 |
791 | S>R | No |
ClinGen gnomAD |
|
|
rs545084191 CA1917774 |
794 | W>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1373878847 CA348666094 |
795 | Y>* | No |
ClinGen gnomAD |
|
| TCGA novel | 797 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1308743860 CA348666115 |
797 | E>G | No |
ClinGen gnomAD |
|
|
rs749994774 CA1917776 |
798 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA348666137 rs1276587295 |
799 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1276587295 CA348666139 |
799 | V>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1233368588 CA348666141 |
800 | F>L | No |
ClinGen gnomAD |
|
|
CA1917778 rs141104683 |
801 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1917779 rs747435075 |
801 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA1917782 rs748507686 |
802 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs781468074 CA1917781 |
802 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1249240197 CA348666170 |
802 | D>Y | No |
ClinGen gnomAD |
|
|
rs1249038289 CA348666186 |
803 | L>* | No |
ClinGen gnomAD |
|
|
CA348666189 rs1455039102 |
803 | L>F | No |
ClinGen gnomAD |
|
|
rs1393613174 CA348666193 |
804 | R>M | No |
ClinGen gnomAD |
|
|
rs773397464 CA348666196 |
804 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348666191 rs1173406843 |
804 | R>W | No |
ClinGen gnomAD |
|
|
rs770873220 CA1917786 |
807 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA1917785 rs763038987 |
807 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA348666238 rs1574032865 |
811 | S>T | No |
ClinGen Ensembl |
|
|
CA348666244 rs1325593461 |
812 | G>D | No |
ClinGen gnomAD |
|
|
CA348666241 rs1389814712 |
812 | G>S | No |
ClinGen gnomAD |
|
|
CA1917787 rs775498851 |
813 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA348666273 rs1558904851 |
815 | I>L | No |
ClinGen Ensembl |
|
|
CA348666275 rs1558904855 |
815 | I>T | No |
ClinGen Ensembl |
|
|
CA348666278 rs1174541722 |
816 | N>H | No |
ClinGen TOPMed |
|
|
rs369256598 CA348666284 |
816 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA58627300 rs982156030 |
816 | N>T | No |
ClinGen TOPMed |
|
|
CA1917817 rs79165026 |
819 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1917816 rs766049621 |
819 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA348666305 rs1466627257 |
820 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA1917818 rs754488770 COSM716230 |
822 | C>Y | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
| TCGA novel | 824 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 824 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM244652 CA348666338 rs1261389351 |
825 | I>F | prostate [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA1917819 rs146941427 |
825 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1261389351 CA348666337 |
825 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA58627361 rs984801256 |
831 | I>V | No |
ClinGen TOPMed |
|
|
CA1917821 rs756472706 |
833 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA1917822 rs201662250 |
834 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs946361191 CA58627365 |
834 | D>N | No |
ClinGen Ensembl |
|
|
rs749642637 CA348666406 |
835 | C>* | No |
ClinGen ExAC gnomAD |
|
|
CA1917824 rs143632617 |
836 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1382445740 CA348666418 |
837 | G>E | No |
ClinGen gnomAD |
|
|
rs1250582005 CA348666424 |
838 | S>N | No |
ClinGen TOPMed |
|
|
CA348666433 rs1558904930 |
839 | K>R | No |
ClinGen Ensembl |
|
|
CA58627390 rs200907536 |
840 | E>D | No |
ClinGen ESP ExAC gnomAD |
|
|
rs190431138 CA1917845 |
841 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA348666460 rs1481021818 |
841 | L>R | No |
ClinGen gnomAD |
|
|
rs1214586241 CA348666465 |
842 | Q>R | No |
ClinGen gnomAD |
|
|
rs780225688 CA1917846 |
844 | F>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348666478 rs1374123262 |
844 | F>L | No |
ClinGen TOPMed |
|
|
rs565750531 CA1917847 |
847 | T>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs867782017 CA58629407 |
848 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
rs769890147 CA1917848 |
851 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs934121700 CA58629461 |
852 | I>S | No |
ClinGen Ensembl |
|
|
rs934121700 CA58629460 |
852 | I>T | No |
ClinGen Ensembl |
|
|
rs1432503142 CA348666540 |
853 | K>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1265548503 CA348666546 |
854 | C>R | No |
ClinGen gnomAD |
|
|
rs149305551 CA1917851 |
854 | C>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA348666555 rs1255216233 |
855 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1181543237 CA348666552 |
855 | G>R | No |
ClinGen gnomAD |
|
|
rs201888845 CA1917852 |
856 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1917854 rs759168159 CA1917853 |
857 | W>C | No |
ClinGen ExAC gnomAD |
|
|
rs1371832237 CA348666591 |
860 | A>G | No |
ClinGen gnomAD |
|
|
CA348666590 rs1371832237 |
860 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1408068989 CA348666603 |
862 | I>T | No |
ClinGen TOPMed |
|
|
CA348666600 rs1420263894 |
862 | I>V | No |
ClinGen TOPMed |
|
|
CA58629479 rs943658474 |
863 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1574037298 CA348666617 |
864 | D>E | No |
ClinGen Ensembl |
|
|
rs1489646344 CA348666615 |
864 | D>G | No |
ClinGen TOPMed |
|
|
rs1304650940 CA348666621 |
865 | K>E | No |
ClinGen gnomAD |
|
|
CA58629480 rs775051948 |
865 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs879891376 CA58629482 COSM1691175 |
867 | A>T | skin [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA1917857 rs764638096 |
867 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1917859 COSM3406957 rs200855507 |
868 | V>I | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA1917860 CA348666636 rs200855507 |
868 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs750626755 CA1917861 |
869 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348666645 rs1489441451 |
869 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs750626755 CA348666643 |
869 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1917862 rs554447274 |
870 | L>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA58629519 rs554447274 |
870 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 871 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1452387822 CA348666662 |
872 | P>L | No |
ClinGen gnomAD |
|
|
rs777599368 CA1917866 |
875 | N>I | No |
ClinGen ExAC gnomAD |
|
|
rs1407045025 CA348666703 |
878 | K>E | No |
ClinGen TOPMed |
|
|
rs770642305 CA1917868 |
878 | K>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 887 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1917872 rs745649132 |
888 | S>* | No |
ClinGen ExAC gnomAD |
|
|
rs1288724104 CA348666770 |
888 | S>A | No |
ClinGen TOPMed |
|
|
CA348666774 rs1430969769 |
889 | V>I | No |
ClinGen gnomAD |
|
|
rs1574037438 CA348666792 |
891 | H>Y | No |
ClinGen Ensembl |
|
|
CA1917875 rs143599667 |
892 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 895 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs746598468 CA1917893 |
896 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA348666835 rs1259266812 |
896 | N>I | No |
ClinGen gnomAD |
|
|
rs1165538850 CA348666846 |
897 | H>Q | No |
ClinGen Ensembl |
|
|
rs1485757716 CA348666842 |
897 | H>Y | No |
ClinGen gnomAD |
|
|
CA348666853 rs1209709660 |
898 | I>N | No |
ClinGen TOPMed |
|
| TCGA novel | 899 | V>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1917895 TCGA novel rs767719295 |
901 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen ExAC TOPMed gnomAD |
|
rs1574038759 CA348666909 |
906 | L>V | No |
ClinGen Ensembl |
|
| TCGA novel | 907 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs776263416 CA1917896 |
908 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA1917898 rs150659301 |
909 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA348666935 rs763440862 |
910 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1917900 rs763440862 |
910 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA58631330 rs267598934 |
911 | G>E | No |
ClinGen Ensembl |
|
|
rs940923053 CA58631332 |
912 | N>I | No |
ClinGen TOPMed gnomAD |
|
|
rs940923053 CA348666951 |
912 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs766782723 CA1917901 |
917 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348667007 rs1312371918 |
920 | V>A | No |
ClinGen gnomAD |
|
|
CA1917902 rs774724578 |
923 | C>* | No |
ClinGen ExAC gnomAD |
|
|
rs1574038791 CA348667031 |
924 | D>A | No |
ClinGen Ensembl |
|
|
rs759892394 CA1917903 |
925 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1386079788 CA348667051 |
927 | K>R | No |
ClinGen TOPMed |
|
|
rs1221866767 CA348667071 |
930 | Q>* | No |
ClinGen gnomAD |
|
|
rs752864174 CA1917905 |
930 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1312176839 CA348667076 |
931 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1348182572 CA348667091 |
932 | W>C | No |
ClinGen gnomAD |
|
|
CA1917906 rs756128818 |
933 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA348667115 rs1254921639 |
935 | E>D | No |
ClinGen gnomAD |
|
|
CA348667122 rs1439095520 |
936 | K>N | No |
ClinGen gnomAD |
|
|
CA348667130 rs1234036692 |
937 | Y>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1399702725 CA348667133 |
938 | Y>D | No |
ClinGen Ensembl |
|
|
rs1470013228 CA537052707 |
940 | A>E | No |
ClinGen gnomAD |
|
|
CA1917908 rs149833454 |
940 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs758193464 CA1917909 |
941 | A>L | No |
ClinGen ExAC TOPMed gnomAD |
No associated diseases with Q7Z7M9
Functions
| Description | ||
|---|---|---|
| EC Number | 2.4.1.41 | Hexosyltransferases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| Golgi apparatus | A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways. |
| Golgi membrane | The lipid bilayer surrounding any of the compartments of the Golgi apparatus. |
| integral component of membrane | The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| carbohydrate binding | Binding to a carbohydrate, which includes monosaccharides, oligosaccharides and polysaccharides as well as substances derived from monosaccharides by reduction of the carbonyl group (alditols), by oxidation of one or more hydroxy groups to afford the corresponding aldehydes, ketones, or carboxylic acids, or by replacement of one or more hydroxy group(s) by a hydrogen atom. Cyclitols are generally not regarded as carbohydrates. |
| metal ion binding | Binding to a metal ion. |
| polypeptide N-acetylgalactosaminyltransferase activity | Catalysis of the reaction: UDP-N-acetyl-D-galactosamine + polypeptide = UDP + N-acetyl-D-galactosaminyl-polypeptide. This reaction is the modification of serine or threonine residues in polypeptide chains by the transfer of a N-acetylgalactose from UDP-N-acetylgalactose to the hydroxyl group of the amino acid; it is the first step in O-glycan biosynthesis. |
3 GO annotations of biological process
| Name | Definition |
|---|---|
| glycosaminoglycan biosynthetic process | The chemical reactions and pathways resulting in the formation of glycosaminoglycans, any of a group of polysaccharides that contain amino sugars. |
| O-glycan processing | The stepwise addition of carbohydrate or carbohydrate derivative residues to the initially added O-linked residue (usually GalNAc) to form a core O-glycan structure. |
| protein O-linked glycosylation | A protein glycosylation process in which a carbohydrate or carbohydrate derivative unit is added to a protein via the hydroxyl group of peptidyl-serine, peptidyl-threonine, peptidyl-hydroxylysine, or peptidyl-hydroxyproline, or via the phenol group of peptidyl-tyrosine, forming an O-glycan. |
26 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q07537 | GALNT1 | Polypeptide N-acetylgalactosaminyltransferase 1 | Bos taurus (Bovine) | PR |
| Q6WV16 | Pgant6 | N-acetylgalactosaminyltransferase 6 | Drosophila melanogaster (Fruit fly) | PR |
| Q6WV17 | Pgant5 | Polypeptide N-acetylgalactosaminyltransferase 5 | Drosophila melanogaster (Fruit fly) | PR |
| Q9Y117 | Pgant3 | Polypeptide N-acetylgalactosaminyltransferase 3 | Drosophila melanogaster (Fruit fly) | PR |
| Q9NY28 | GALNT8 | Probable polypeptide N-acetylgalactosaminyltransferase 8 | Homo sapiens (Human) | PR |
| Q86SF2 | GALNT7 | N-acetylgalactosaminyltransferase 7 | Homo sapiens (Human) | PR |
| Q86SR1 | GALNT10 | Polypeptide N-acetylgalactosaminyltransferase 10 | Homo sapiens (Human) | PR |
| Q49A17 | GALNTL6 | Polypeptide N-acetylgalactosaminyltransferase-like 6 | Homo sapiens (Human) | PR |
| Q8IUC8 | GALNT13 | Polypeptide N-acetylgalactosaminyltransferase 13 | Homo sapiens (Human) | PR |
| Q96FL9 | GALNT14 | Polypeptide N-acetylgalactosaminyltransferase 14 | Homo sapiens (Human) | PR |
| Q10471 | GALNT2 | Polypeptide N-acetylgalactosaminyltransferase 2 | Homo sapiens (Human) | PR |
| Q8IXK2 | GALNT12 | Polypeptide N-acetylgalactosaminyltransferase 12 | Homo sapiens (Human) | PR |
| Q14435 | GALNT3 | Polypeptide N-acetylgalactosaminyltransferase 3 | Homo sapiens (Human) | PR |
| Q10472 | GALNT1 | Polypeptide N-acetylgalactosaminyltransferase 1 | Homo sapiens (Human) | PR |
| O08912 | Galnt1 | Polypeptide N-acetylgalactosaminyltransferase 1 | Mus musculus (Mouse) | PR |
| P70419 | Galnt3 | Polypeptide N-acetylgalactosaminyltransferase 3 | Mus musculus (Mouse) | PR |
| Q921L8 | Galnt11 | Polypeptide N-acetylgalactosaminyltransferase 11 | Mus musculus (Mouse) | PR |
| Q8BGT9 | Galnt12 | Polypeptide N-acetylgalactosaminyltransferase 12 | Mus musculus (Mouse) | PR |
| Q8CF93 | Galnt13 | Polypeptide N-acetylgalactosaminyltransferase 13 | Mus musculus (Mouse) | PR |
| Q29121 | GALNT1 | Polypeptide N-acetylgalactosaminyltransferase 1 | Sus scrofa (Pig) | PR |
| Q925R7 | Galnt10 | Polypeptide N-acetylgalactosaminyltransferase 10 | Rattus norvegicus (Rat) | PR |
| Q10473 | Galnt1 | Polypeptide N-acetylgalactosaminyltransferase 1 | Rattus norvegicus (Rat) | PR |
| Q6UE39 | Galnt13 | Polypeptide N-acetylgalactosaminyltransferase 13 | Rattus norvegicus (Rat) | PR |
| O88422 | Galnt5 | Polypeptide N-acetylgalactosaminyltransferase 5 | Rattus norvegicus (Rat) | PR |
| Q7K755 | gly-11 | Putative polypeptide N-acetylgalactosaminyltransferase 11 | Caenorhabditis elegans | PR |
| P34678 | gly-3 | Polypeptide N-acetylgalactosaminyltransferase 3 | Caenorhabditis elegans | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MNRIRKFFRG | SGRVLAFIFV | ASVIWLLFDM | AALRLSFSEI | NTRVIKEDIV | RRERIGFRVQ |
| 70 | 80 | 90 | 100 | 110 | 120 |
| PDQGKIFYSS | IKEMKPPLRG | HGKGAWGKEN | VRKTEESVLK | VEVDLDQTQR | ERKMQNALGR |
| 130 | 140 | 150 | 160 | 170 | 180 |
| GKVVPLWHPA | HLQTLPVTPN | KQKTDGRGTK | PEASSHQGTP | KQTTAQGAPK | TSFIAAKGTQ |
| 190 | 200 | 210 | 220 | 230 | 240 |
| VVKISVHMGR | VSLKQEPRKS | HSPSSDTSKL | AAERDLNVTI | SLSTDRPKQR | SQAVANERAH |
| 250 | 260 | 270 | 280 | 290 | 300 |
| PASTAVPKSG | EAMALNKTKT | QSKEVNANKH | KANTSLPFPK | FTVNSNRLRK | QSINETPLGS |
| 310 | 320 | 330 | 340 | 350 | 360 |
| LSKDDGARGA | HGKKLNFSES | HLVIITKEEE | QKADPKEVSN | SKTKTIFPKV | LGKSQSKHIS |
| 370 | 380 | 390 | 400 | 410 | 420 |
| RNRSEMSSSS | LAPHRVPLSQ | TNHALTGGLE | PAKINITAKA | PSTEYNQSHI | KALLPEDSGT |
| 430 | 440 | 450 | 460 | 470 | 480 |
| HQVLRIDVTL | SPRDPKAPGQ | FGRPVVVPHG | KEKEAERRWK | EGNFNVYLSD | LIPVDRAIED |
| 490 | 500 | 510 | 520 | 530 | 540 |
| TRPAGCAEQL | VHNNLPTTSV | IMCFVDEVWS | TLLRSVHSVI | NRSPPHLIKE | ILLVDDFSTK |
| 550 | 560 | 570 | 580 | 590 | 600 |
| DYLKDNLDKY | MSQFPKVRIL | RLKERHGLIR | ARLAGAQNAT | GDVLTFLDSH | VECNVGWLEP |
| 610 | 620 | 630 | 640 | 650 | 660 |
| LLERVYLSRK | KVACPVIEVI | NDKDMSYMTV | DNFQRGIFVW | PMNFGWRTIP | PDVIAKNRIK |
| 670 | 680 | 690 | 700 | 710 | 720 |
| ETDTIRCPVM | AGGLFSIDKS | YFFELGTYDP | GLDVWGGENM | ELSFKVWMCG | GEIEIIPCSR |
| 730 | 740 | 750 | 760 | 770 | 780 |
| VGHIFRNDNP | YSFPKDRMKT | VERNLVRVAE | VWLDEYKELF | YGHGDHLIDQ | GLDVGNLTQQ |
| 790 | 800 | 810 | 820 | 830 | 840 |
| RELRKKLKCK | SFKWYLENVF | PDLRAPIVRA | SGVLINVALG | KCISIENTTV | ILEDCDGSKE |
| 850 | 860 | 870 | 880 | 890 | 900 |
| LQQFNYTWLR | LIKCGEWCIA | PIPDKGAVRL | HPCDNRNKGL | KWLHKSTSVF | HPELVNHIVF |
| 910 | 920 | 930 | |||
| ENNQQLLCLE | GNFSQKILKV | AACDPVKPYQ | KWKFEKYYEA |