O75164
PR
Gene name |
KDM4A (JHDM3A, JMJD2, JMJD2A, KIAA0677) |
Protein name |
Lysine-specific demethylase 4A |
Names |
JmjC domain-containing histone demethylation protein 3A, Jumonji domain-containing protein 2A, [histone H3]-trimethyl-L-lysine(36) demethylase 4A, [histone H3]-trimethyl-L-lysine(9) demethylase 4A |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:9682 |
EC number |
1.14.11.66: With 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors |
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
86 structures for O75164
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2GF7 | X-ray | 220 A | A/B/C/D | 895-1011 | PDB |
| 2GFA | X-ray | 210 A | A/B | 895-1011 | PDB |
| 2GP3 | X-ray | 235 A | A/B | 2-350 | PDB |
| 2GP5 | X-ray | 228 A | A/B | 2-350 | PDB |
| 2OQ6 | X-ray | 200 A | A/B | 1-359 | PDB |
| 2OQ7 | X-ray | 215 A | A/B | 1-359 | PDB |
| 2OS2 | X-ray | 230 A | A/B | 1-359 | PDB |
| 2OT7 | X-ray | 213 A | A/B | 1-359 | PDB |
| 2OX0 | X-ray | 195 A | A/B | 1-359 | PDB |
| 2P5B | X-ray | 199 A | A/B | 2-350 | PDB |
| 2PXJ | X-ray | 200 A | A/B | 2-348 | PDB |
| 2Q8C | X-ray | 205 A | A/B | 1-350 | PDB |
| 2Q8D | X-ray | 229 A | A/B | 1-350 | PDB |
| 2Q8E | X-ray | 205 A | A/B | 1-350 | PDB |
| 2QQR | X-ray | 180 A | A/B | 897-1011 | PDB |
| 2QQS | X-ray | 282 A | A/B | 897-1011 | PDB |
| 2VD7 | X-ray | 225 A | A/B | 1-359 | PDB |
| 2WWJ | X-ray | 260 A | A/B | 7-353 | PDB |
| 2YBK | X-ray | 240 A | A/B | 1-359 | PDB |
| 2YBP | X-ray | 202 A | A/B | 1-359 | PDB |
| 2YBS | X-ray | 232 A | A/B | 1-359 | PDB |
| 3NJY | X-ray | 260 A | A/B | 1-359 | PDB |
| 3PDQ | X-ray | 199 A | A/B | 1-359 | PDB |
| 3RVH | X-ray | 225 A | A/B | 1-359 | PDB |
| 3U4S | X-ray | 215 A | A/B | 1-359 | PDB |
| 4AI9 | X-ray | 225 A | A/B | 1-359 | PDB |
| 4BIS | X-ray | 249 A | A/B | 1-359 | PDB |
| 4GD4 | X-ray | 233 A | A/B | 1-359 | PDB |
| 4URA | X-ray | 223 A | A/B | 1-359 | PDB |
| 4V2V | X-ray | 200 A | A/B | 1-359 | PDB |
| 4V2W | X-ray | 181 A | A/B | 1-359 | PDB |
| 5A7N | X-ray | 239 A | A/B | 1-359 | PDB |
| 5A7O | X-ray | 215 A | A/B | 1-359 | PDB |
| 5A7P | X-ray | 228 A | A/B | 1-359 | PDB |
| 5A7Q | X-ray | 200 A | A/B | 1-359 | PDB |
| 5A7S | X-ray | 220 A | A/B | 1-359 | PDB |
| 5A7W | X-ray | 227 A | A/B | 1-359 | PDB |
| 5A80 | X-ray | 228 A | A/B | 1-359 | PDB |
| 5ANQ | X-ray | 200 A | A/B | 1-359 | PDB |
| 5D6W | X-ray | 199 A | A/B/C/D | 895-1011 | PDB |
| 5D6X | X-ray | 215 A | A/B | 895-1011 | PDB |
| 5D6Y | X-ray | 229 A | A/B/C/D/E/F | 895-1011 | PDB |
| 5F2S | X-ray | 208 A | A/B/C/D | 1-359 | PDB |
| 5F2W | X-ray | 260 A | A/B/C/D | 1-359 | PDB |
| 5F32 | X-ray | 205 A | A/B/C/D | 1-359 | PDB |
| 5F37 | X-ray | 222 A | A/B/C/D | 1-359 | PDB |
| 5F39 | X-ray | 265 A | A/B/C/D | 1-359 | PDB |
| 5F3C | X-ray | 206 A | A/B/C/D | 1-359 | PDB |
| 5F3E | X-ray | 216 A | A/B/C/D | 1-359 | PDB |
| 5F3G | X-ray | 250 A | A/B/C/D | 1-359 | PDB |
| 5F3I | X-ray | 224 A | A/B/C/D | 1-359 | PDB |
| 5F5I | X-ray | 263 A | A/B | 1-359 | PDB |
| 5FPV | X-ray | 244 A | A/B/C/D/E/F/G/H | 1-359 | PDB |
| 5FWE | X-ray | 205 A | A/B | 1-359 | PDB |
| 5FY8 | X-ray | 234 A | A/B | 1-359 | PDB |
| 5FYC | X-ray | 226 A | A/B | 1-359 | PDB |
| 5FYH | X-ray | 235 A | A/B | 1-359 | PDB |
| 5FYI | X-ray | 210 A | A/B | 1-359 | PDB |
| 5LY1 | X-ray | 250 A | A/B/C/D | 1-359 | PDB |
| 5LY2 | X-ray | 243 A | A/B/C/D | 1-359 | PDB |
| 5TVR | X-ray | 209 A | A/B | 1-359 | PDB |
| 5TVS | X-ray | 275 A | A/B | 1-359 | PDB |
| 5VAR | X-ray | 183 A | A | 897-1011 | PDB |
| 5VGI | X-ray | 207 A | A/B/C/D | 5-354 | PDB |
| 5VMP | X-ray | 248 A | A/B/C/D | 5-354 | PDB |
| 6CG1 | X-ray | 216 A | A/B/C/D | 5-354 | PDB |
| 6CG2 | X-ray | 234 A | A/B/C/D | 5-354 | PDB |
| 6G5W | X-ray | 183 A | A/B | 1-359 | PDB |
| 6G5X | X-ray | 178 A | A/B | 1-359 | PDB |
| 6H4O | X-ray | 225 A | A/B/C/D | 1-359 | PDB |
| 6H4P | X-ray | 219 A | A/B/C/D | 1-359 | PDB |
| 6H4Q | X-ray | 231 A | A/B/C/D | 1-359 | PDB |
| 6H4R | X-ray | 214 A | A/B/C/D | 1-359 | PDB |
| 6H4S | X-ray | 245 A | A/B/C/D | 1-359 | PDB |
| 6H4T | X-ray | 238 A | A/B/C/D | 1-359 | PDB |
| 6H4U | X-ray | 221 A | A/B/C/D | 1-359 | PDB |
| 6H4V | X-ray | 215 A | A/B/C/D | 1-359 | PDB |
| 6H4W | X-ray | 281 A | A/B/C/D | 1-359 | PDB |
| 6H4X | X-ray | 234 A | A/B/C/D | 1-359 | PDB |
| 6H4Y | X-ray | 238 A | A/B/C/D | 1-359 | PDB |
| 6H8P | X-ray | 198 A | A/B | 1-359 | PDB |
| 6HGT | X-ray | 233 A | A/B/C/D | 1-359 | PDB |
| 7D4A | X-ray | 220 A | A | 898-1011 | PDB |
| 7EQV | X-ray | 260 A | A | 8-355 | PDB |
| 8WD3 | X-ray | 330 A | A/B | 1-359 | PDB |
| AF-O75164-F1 | Predicted | AlphaFoldDB |
603 variants for O75164
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA813676 rs769081788 |
2 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA340026856 rs1157525099 |
3 | S>C | No |
ClinGen TOPMed |
|
|
rs1047633369 CA21653251 |
11 | S>G | No |
ClinGen Ensembl |
|
|
CA813678 rs559258853 |
15 | M>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs149683962 CA21653259 |
16 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA813679 rs149683962 |
16 | T>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1259711408 CA340026957 |
18 | Y>C | No |
ClinGen TOPMed |
|
|
rs1449027992 CA340026953 |
18 | Y>N | No |
ClinGen TOPMed |
|
|
CA340026968 rs1204649604 |
20 | T>A | No |
ClinGen TOPMed |
|
|
rs547590900 CA813681 |
21 | M>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 23 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA813682 rs766764335 |
24 | F>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 25 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA813683 rs201262598 |
25 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs959919828 CA21653296 |
26 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
rs759703904 CA813685 |
28 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759703904 CA813684 |
28 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340027077 rs1270618522 |
29 | R>K | No |
ClinGen TOPMed |
|
| TCGA novel | 30 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1324372539 CA340027099 |
31 | I>V | No |
ClinGen TOPMed |
|
|
rs146436198 CA340027105 |
32 | A>P | No |
ClinGen ESP ExAC gnomAD |
|
|
rs146436198 CA813687 |
32 | A>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA21653316 rs146598146 |
33 | Y>C | No |
ClinGen ESP |
|
|
CA340027121 rs1490657595 |
34 | I>M | No |
ClinGen gnomAD |
|
|
CA21653346 rs141051461 |
34 | I>T | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA813688 rs763779784 |
34 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs756901557 CA813690 |
36 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1305504740 CA340027139 |
37 | Q>R | No |
ClinGen TOPMed |
|
| TCGA novel | 40 | H>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 40 | H>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs745322540 CA813692 |
41 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA21653383 rs757620957 |
41 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA813694 rs781632610 |
42 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA340027195 rs1425242812 |
46 | K>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 47 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA813717 rs778359221 |
53 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs371560953 CA813718 |
56 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371560953 CA813719 |
56 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1557902139 CA340027803 |
60 | D>V | No |
ClinGen Ensembl |
|
|
rs774896534 CA813720 |
61 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA813722 rs772483262 |
62 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746069109 CA813721 |
62 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1052081860 CA21655258 |
63 | D>E | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 69 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA813724 rs760816864 |
71 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 75 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1186412979 CA340028083 |
75 | V>M | No |
ClinGen TOPMed |
|
|
rs528781215 CA813725 |
76 | T>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1274246282 CA340028215 |
81 | L>F | No |
ClinGen gnomAD |
|
|
CA21655297 rs1013174382 |
92 | M>V | No |
ClinGen TOPMed |
|
|
rs764982451 CA813728 |
93 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA340028454 rs917851148 |
95 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA813729 rs750266103 |
95 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA340028469 rs1406440049 |
96 | E>K | No |
ClinGen gnomAD |
|
|
rs138326186 CA813730 |
98 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs766121518 CA813731 |
98 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1443596844 CA340028570 |
101 | A>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1348949193 CA340028577 |
102 | N>D | No |
ClinGen gnomAD |
|
|
CA21655360 rs778103579 |
102 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340028585 rs1225795120 |
102 | N>T | No |
ClinGen gnomAD |
|
|
CA813735 rs754367391 |
103 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA813738 rs746305471 |
104 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs779410410 CA813737 |
104 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA340028648 rs1182395271 |
105 | K>E | No |
ClinGen gnomAD |
|
|
CA340029651 rs1394888951 |
106 | Y>S | No |
ClinGen gnomAD |
|
|
CA813758 rs758809004 |
107 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs576969779 CA813759 |
107 | C>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA21659202 rs978533262 |
108 | T>I | No |
ClinGen gnomAD |
|
|
COSM265343 rs200705318 CA813762 |
110 | R>C | large_intestine Variant assessed as Somatic; 4.619e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA21659236 rs752886235 |
110 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA340029798 rs1244861335 |
113 | E>G | No |
ClinGen TOPMed |
|
|
rs375230499 CA21659239 |
114 | F>L | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA340029872 rs1570816992 |
117 | L>F | No |
ClinGen Ensembl |
|
|
CA21659248 rs769652752 |
119 | R>L | No |
ClinGen ExAC gnomAD |
|
|
COSM1342903 CA813764 rs769652752 |
119 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA340029900 rs1248125156 |
119 | R>W | No |
ClinGen gnomAD |
|
| TCGA novel | 123 | K>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA21659265 rs1057423435 |
126 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1057423435 CA340030033 |
126 | T>K | No |
ClinGen TOPMed gnomAD |
|
|
rs762616511 CA813767 CA813766 |
127 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs774064814 CA813768 |
128 | N>H | No |
ClinGen ExAC gnomAD |
|
|
rs570986178 CA813769 COSM426319 |
128 | N>S | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA340030069 rs1368714774 |
129 | P>L | No |
ClinGen Ensembl |
|
|
rs777756691 CA21659294 |
131 | I>V | No |
ClinGen Ensembl |
|
|
CA340030177 rs1423123711 |
140 | L>F | No |
ClinGen gnomAD |
|
| TCGA novel | 143 | K>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs374277601 CA21659324 |
143 | K>R | No |
ClinGen TOPMed |
|
|
CA813784 rs546268775 |
144 | H>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA340030669 rs1453551068 |
145 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA813786 rs774195150 |
152 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM110112 rs140820309 CA813785 |
152 | R>W | Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1381884372 CA340030903 |
156 | I>V | No |
ClinGen gnomAD |
|
|
rs771797849 CA813788 |
160 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1336104403 CA340031038 |
162 | K>R | No |
ClinGen gnomAD |
|
|
CA813789 rs775307805 |
164 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340031105 rs1557905521 |
165 | G>R | No |
ClinGen Ensembl |
|
|
rs1266729549 CA340031167 |
167 | T>P | No |
ClinGen gnomAD |
|
|
CA813791 rs763662886 |
168 | I>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs776051250 CA813792 |
169 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA21661760 rs750959023 |
171 | V>G | No |
ClinGen Ensembl |
|
|
rs377077968 CA813794 |
176 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA340031602 rs1431642674 |
186 | A>V | No |
ClinGen gnomAD |
|
|
rs1470436148 CA340031667 |
189 | T>S | No |
ClinGen gnomAD |
|
| TCGA novel | 192 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA340031840 rs1357525315 |
197 | I>V | No |
ClinGen TOPMed |
|
|
CA340032012 rs1278905378 |
205 | P>Q | No |
ClinGen TOPMed |
|
|
CA813800 rs777817865 |
205 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA21665071 rs995781690 |
210 | S>T | No |
ClinGen TOPMed |
|
|
CA813821 rs778874325 |
212 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA813822 rs750292249 |
213 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1226794500 CA340033236 |
214 | E>K | No |
ClinGen gnomAD |
|
|
CA340033267 rs1341660888 |
215 | H>L | No |
ClinGen TOPMed |
|
|
CA21665117 COSM3689709 rs964749317 |
218 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA340033322 rs1490611372 |
218 | R>W | No |
ClinGen gnomAD |
|
|
CA813825 rs746865217 |
220 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs768354168 CA813826 |
221 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1418933537 CA340033385 |
221 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA340033412 rs1166618160 |
223 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1425063643 CA340033429 |
224 | K>R | No |
ClinGen gnomAD |
|
| TCGA novel | 225 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA340033544 rs1224744299 |
226 | F>I | No |
ClinGen gnomAD |
|
|
rs1205582106 CA340033701 |
235 | E>A | No |
ClinGen gnomAD |
|
|
CA340033734 rs1263862907 |
239 | R>C | No |
ClinGen gnomAD |
|
|
rs1186720237 CA340033760 |
242 | M>I | No |
ClinGen gnomAD |
|
|
rs1235718256 CA340033767 |
243 | T>I | No |
ClinGen gnomAD |
|
|
rs759400048 CA21665993 |
247 | P>L | No |
ClinGen Ensembl |
|
|
CA340033806 rs1177572722 |
249 | M>I | No |
ClinGen gnomAD |
|
|
rs992706250 CA21666000 |
259 | K>E | No |
ClinGen TOPMed |
|
|
CA21666307 rs922842200 |
264 | A>S | No |
ClinGen TOPMed |
|
|
CA813869 rs770912180 |
264 | A>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 266 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA813871 rs747487899 |
266 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA340033938 rs1570828823 |
267 | F>V | No |
ClinGen Ensembl |
|
|
rs1369068495 CA340033984 |
273 | Y>C | No |
ClinGen gnomAD |
|
|
CA340033981 rs1570828847 |
273 | Y>H | No |
ClinGen Ensembl |
|
|
CA21666338 rs1031489095 |
274 | G>D | No |
ClinGen Ensembl |
|
|
CA813876 rs773589956 |
278 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 278 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766535295 CA813878 |
286 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs766535295 CA340034079 |
286 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA340034097 rs1341336810 |
289 | T>N | No |
ClinGen gnomAD |
|
|
CA813880 rs759387961 |
294 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA813881 rs373265233 |
294 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA813882 rs752378979 |
295 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs755962157 CA813883 |
297 | I>L | No |
ClinGen ExAC |
|
|
CA340034151 rs763699327 |
298 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763699327 CA813885 |
298 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs78418435 CA340034165 |
299 | Y>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1196073925 CA340034160 |
299 | Y>D | No |
ClinGen gnomAD |
|
|
CA340034176 rs759547621 |
301 | K>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759547621 CA813888 |
301 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA21666465 rs201827788 |
304 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs201827788 CA340034193 |
304 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs753686310 CA813903 |
307 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs926207988 CA21667093 |
309 | R>K | No |
ClinGen TOPMed |
|
|
rs1318638770 CA340034732 |
316 | S>P | No |
ClinGen gnomAD |
|
|
CA340034746 rs1570830232 |
317 | M>V | No |
ClinGen Ensembl |
|
|
rs761446401 CA813904 |
320 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1454547301 CA340034834 |
322 | R>G | No |
ClinGen gnomAD |
|
|
CA813905 rs764871036 |
322 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 322 | R>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1167366229 CA340034927 |
327 | E>D | No |
ClinGen TOPMed |
|
|
rs757945633 CA813907 |
328 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1280856712 CA340034954 |
329 | Y>C | No |
ClinGen gnomAD |
|
|
CA21667121 rs913358581 |
333 | K>N | No |
ClinGen TOPMed |
|
| TCGA novel | 334 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA813910 rs756734610 |
343 | H>N | No |
ClinGen ExAC gnomAD |
|
|
CA340035163 rs1478111127 |
343 | H>R | No |
ClinGen gnomAD |
|
|
CA813911 rs778278176 |
344 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA813912 rs201914240 |
347 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA21667164 rs879339256 |
351 | A>V | No |
ClinGen gnomAD |
|
|
CA813914 rs779216696 |
357 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1156987906 CA340035377 |
357 | S>R | No |
ClinGen gnomAD |
|
|
CA21667171 rs779216696 |
357 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1408355383 CA340035380 |
358 | E>K | No |
ClinGen gnomAD |
|
|
CA813915 rs745894264 |
363 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA813916 rs772157229 |
363 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA340035460 rs1557907903 |
364 | G>V | No |
ClinGen Ensembl |
|
|
rs1394058581 CA340035488 |
365 | N>I | No |
ClinGen TOPMed gnomAD |
|
|
CA813919 rs548185351 |
365 | N>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA340035487 rs1394058581 |
365 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs776347883 CA813920 |
366 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA21667251 rs758236556 |
368 | E>D | No |
ClinGen Ensembl |
|
| TCGA novel | 369 | C>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA21667262 rs777776387 |
372 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA340035612 rs1570830619 |
373 | D>H | No |
ClinGen Ensembl |
|
|
rs1197899799 CA340035628 |
374 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs375733010 CA813924 |
374 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
RCV000963755 CA813923 rs74070653 |
374 | M>V | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs370023273 CA813925 |
375 | E>K | No |
ClinGen ESP ExAC |
|
|
rs1296458570 CA340035649 |
376 | G>A | No |
ClinGen gnomAD |
|
|
rs887691626 CA21667301 |
376 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs887691626 CA340035646 |
376 | G>W | No |
ClinGen TOPMed gnomAD |
|
|
CA340035688 rs1180220977 |
379 | D>N | No |
ClinGen gnomAD |
|
|
CA340035685 rs1180220977 |
379 | D>Y | No |
ClinGen gnomAD |
|
|
rs1334391453 CA340035702 |
380 | G>R | No |
ClinGen TOPMed |
|
|
CA340035757 rs751088355 |
383 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA813927 rs751088355 |
383 | G>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 384 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1175527931 CA340035789 |
385 | L>P | No |
ClinGen gnomAD |
|
| TCGA novel | 386 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA340035820 rs1464520201 |
387 | T>K | No |
ClinGen gnomAD |
|
|
rs1309812227 CA340035828 |
388 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1163817147 CA340035955 |
389 | L>P | No |
ClinGen TOPMed |
|
|
CA340035959 rs1436658488 |
390 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1364814677 CA340035956 |
390 | A>T | No |
ClinGen gnomAD |
|
|
CA340035961 rs1436658488 |
390 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1233032621 CA340035966 |
391 | K>R | No |
ClinGen gnomAD |
|
|
CA340035985 rs1382788697 |
392 | H>Q | No |
ClinGen TOPMed |
|
|
rs773852936 CA21668549 |
393 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773852936 CA813948 |
393 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA813949 rs759138533 |
394 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA21668588 rs1015888443 |
400 | R>* | No |
ClinGen Ensembl |
|
|
rs566945580 COSM909895 CA813953 |
400 | R>Q | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs750815840 CA813954 |
403 | L>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 407 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA813955 rs138262164 |
407 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA813956 rs371846712 |
408 | E>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA21668638 rs747045651 |
413 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 416 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA813961 rs769678110 |
417 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA340036380 rs375834594 |
418 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA gnomAD |
|
rs773055267 CA813962 |
420 | L>V | No |
ClinGen ExAC |
|
|
CA813963 rs143990622 COSM3735966 |
427 | M>T | skin [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs757035656 COSM1321046 CA21668721 |
428 | T>M | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs954089076 CA340036497 |
429 | E>K | No |
ClinGen gnomAD |
|
|
CA21668733 rs954089076 |
429 | E>Q | No |
ClinGen gnomAD |
|
|
rs774176471 CA813965 |
431 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA813967 rs767110914 |
432 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA813970 rs765671179 |
434 | L>F | No |
ClinGen ExAC gnomAD |
|
|
COSM312112 rs1267630620 CA340036533 |
435 | A>T | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs751751983 CA813974 |
439 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA21668793 rs2274467 |
440 | T>N | No |
ClinGen Ensembl |
|
|
CA21668795 rs945114706 |
442 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA813976 rs781237552 |
442 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752841869 CA813977 |
444 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA813979 rs777593264 |
445 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA813978 rs190357001 |
445 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs749069346 CA813980 |
447 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA340036684 rs1262851657 |
450 | G>V | No |
ClinGen TOPMed |
|
|
rs1360316400 CA340036703 |
452 | T>A | No |
ClinGen gnomAD |
|
|
rs1200630336 CA340036707 |
452 | T>I | No |
ClinGen TOPMed |
|
|
CA340036728 rs1301506786 |
454 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA814006 rs746491588 |
456 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA814007 rs773506730 |
463 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs553622883 CA21670613 COSM3790057 |
466 | E>Q | urinary_tract [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
| TCGA novel | 472 | L>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA340037626 rs1309701491 |
474 | E>A | No |
ClinGen TOPMed |
|
|
CA340037644 rs1353939092 |
475 | E>K | No |
ClinGen gnomAD |
|
|
CA340037659 rs142425673 |
476 | D>N | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA21670627 rs142425673 |
476 | D>Y | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1246741399 CA340037684 COSM909896 |
477 | E>K | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs763357725 CA814011 |
478 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs763357725 CA814010 |
478 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA814012 rs774631250 |
479 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs1373031856 CA340037762 |
480 | E>V | No |
ClinGen TOPMed |
|
|
rs1392568584 CA340037769 |
481 | Q>K | No |
ClinGen gnomAD |
|
|
VAR_023775 rs586339 CA814013 |
482 | A>E | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs586339 CA21670675 |
482 | A>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA21670700 rs586339 |
482 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs767686593 CA814014 |
483 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA814015 rs775542197 |
484 | A>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 484 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 485 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1416819260 CA340037844 |
485 | A>V | No |
ClinGen TOPMed |
|
|
rs150730301 CA814016 |
488 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA814017 rs764064619 |
489 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs373296726 CA814018 |
492 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1269217152 CA340037911 |
493 | A>T | No |
ClinGen gnomAD |
|
|
rs138721228 CA814019 |
493 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA814021 rs750198893 |
495 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA340037974 rs1418482222 |
497 | G>V | No |
ClinGen TOPMed |
|
|
CA814023 rs375615103 |
498 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369667794 CA814024 |
498 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs145410085 CA814025 |
501 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA814028 rs373467522 |
503 | G>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201318621 CA814029 |
503 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA814030 rs774869980 |
504 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1488982100 CA340038074 |
505 | K>R | No |
ClinGen TOPMed |
|
|
CA21670884 rs574481883 |
506 | K>T | No |
ClinGen Ensembl |
|
| TCGA novel | 508 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1163986213 CA340038115 |
508 | S>P | No |
ClinGen gnomAD |
|
|
rs760799528 CA814034 |
518 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs538082991 CA814033 |
518 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA814035 rs764379296 |
519 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA814038 rs148308072 |
521 | I>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA814037 rs148308072 |
521 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA340038294 rs1284416696 |
522 | S>C | No |
ClinGen gnomAD |
|
|
CA814039 rs750358339 |
522 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA340038298 rs758462057 |
523 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA814040 rs758462057 |
523 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340038384 rs1269439984 |
529 | E>K | No |
ClinGen gnomAD |
|
|
CA340038413 rs1350350346 |
530 | P>L | No |
ClinGen TOPMed |
|
|
CA814042 rs150381773 |
532 | S>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs376335983 CA814043 |
534 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA814044 rs780911853 |
535 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs142569925 CA340038496 |
536 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs192175863 CA814046 |
539 | T>M | Variant assessed as Somatic; 9.241e-05 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs777311423 CA814047 |
540 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA340038573 rs1185388125 |
542 | L>P | No |
ClinGen TOPMed |
|
|
rs746359582 CA814048 |
543 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340038615 rs772631446 |
545 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs185752390 CA340038801 |
558 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
COSM681259 CA814052 rs185752390 |
558 | E>Q | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs776946990 CA814053 |
559 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1382780570 CA340038820 |
559 | P>S | No |
ClinGen gnomAD |
|
|
CA814054 rs762171653 |
560 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1339475046 CA340038833 |
560 | C>Y | No |
ClinGen gnomAD |
|
|
rs769974000 CA814055 |
561 | T>M | No |
ClinGen ExAC gnomAD |
|
|
CA814057 rs762980771 |
563 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA21671063 rs750147690 |
563 | K>R | No |
ClinGen Ensembl |
|
|
rs190275733 CA814059 COSM1342906 |
567 | A>T | Variant assessed as Somatic; 4.86e-05 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA340038939 rs1238507723 |
567 | A>V | No |
ClinGen gnomAD |
|
|
rs368052422 CA814061 COSM535346 |
568 | A>T | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs752324740 CA814062 |
569 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs755820197 CA814063 |
571 | F>C | No |
ClinGen ExAC TOPMed |
|
|
rs1184540818 CA340038986 |
571 | F>L | No |
ClinGen gnomAD |
|
|
CA21671120 rs755820197 |
571 | F>S | No |
ClinGen ExAC TOPMed |
|
|
rs943818142 CA21671133 |
574 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA814064 rs777260014 |
574 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753347514 CA340039083 |
577 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs753347514 CA814065 |
577 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1467557346 CA340039094 |
577 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1021523593 CA21686302 |
584 | M>I | No |
ClinGen Ensembl |
|
|
CA21686280 rs537146862 |
584 | M>T | No |
ClinGen Ensembl |
|
|
CA814090 rs770085376 |
585 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs1231037601 CA340041591 |
587 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs749340762 CA814092 |
589 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340041641 rs1305129248 |
590 | N>S | No |
ClinGen TOPMed |
|
|
CA814093 rs771020769 |
593 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs1267465419 CA340041724 |
594 | K>R | No |
ClinGen gnomAD |
|
|
rs1377981727 CA340041730 |
595 | G>R | No |
ClinGen gnomAD |
|
|
rs141679111 CA814094 |
596 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs745811352 CA814095 |
596 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA814097 rs370564465 |
597 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA814098 rs760483832 COSM909897 |
597 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs190193797 CA814099 |
599 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs868286863 CA21686434 |
601 | S>R | No |
ClinGen Ensembl |
|
|
CA21686431 rs947528980 |
601 | S>T | No |
ClinGen TOPMed |
|
|
CA814100 rs776231168 |
602 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs11551209 CA21686459 |
603 | L>F | No |
ClinGen Ensembl |
|
| TCGA novel | 604 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 605 | R>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs149269662 CA814101 |
605 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs764794848 CA814102 |
605 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 605 | R>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs149269662 CA340041888 |
605 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1316009338 CA340041903 |
606 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1457957302 CA340041937 |
608 | P>R | No |
ClinGen gnomAD |
|
|
rs749971537 CA814103 |
609 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs1197883207 CA340041958 |
612 | Q>L | No |
ClinGen gnomAD |
|
|
rs990786754 CA21686492 |
614 | C>Y | No |
ClinGen Ensembl |
|
| TCGA novel | 615 | V>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA814105 rs768153588 |
616 | S>I | No |
ClinGen ExAC TOPMed |
|
|
rs753065163 CA814106 |
619 | E>* | No |
ClinGen ExAC |
|
|
rs768420871 CA814121 |
620 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1345183588 CA340042859 |
621 | S>A | No |
ClinGen gnomAD |
|
|
CA340042857 rs1345183588 |
621 | S>P | No |
ClinGen gnomAD |
|
|
CA340042871 rs1429039517 |
622 | E>Q | No |
ClinGen gnomAD |
|
|
CA814122 rs368647897 |
625 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 626 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA340042945 rs1232850391 |
627 | E>G | No |
ClinGen gnomAD |
|
|
rs1570863363 CA340042975 |
629 | E>D | No |
ClinGen Ensembl |
|
|
rs1331237140 CA340043049 |
635 | A>T | No |
ClinGen gnomAD |
|
|
rs1284853195 CA340043069 |
636 | W>* | No |
ClinGen gnomAD |
|
|
rs772721112 CA814126 |
639 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA814128 rs148409436 |
641 | S>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs753226619 CA814129 |
642 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
COSM909898 rs1255048635 CA340043222 |
647 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1473280806 CA340043227 |
648 | P>S | No |
ClinGen gnomAD |
|
|
CA814133 rs757442076 |
649 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779021295 CA814134 |
653 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs745917269 CA814135 |
653 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 655 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1392592398 CA340043389 |
658 | N>S | No |
ClinGen TOPMed |
|
|
CA21691518 rs113161002 |
660 | T>A | No |
ClinGen Ensembl |
|
|
CA340043417 rs1414554605 |
660 | T>I | No |
ClinGen gnomAD |
|
|
rs150907949 CA814136 |
661 | M>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs780153157 CA814137 |
664 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA814139 rs547469506 |
667 | H>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs747912849 CA814141 |
669 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs769439784 CA814142 |
672 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1557917153 CA340043608 |
673 | I>M | No |
ClinGen Ensembl |
|
|
rs199832618 CA814144 |
676 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs376213794 CA814147 |
678 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs529705297 CA814146 |
678 | H>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs751594456 CA814172 |
680 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA814171 rs766605463 |
680 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1393880560 CA340043838 |
681 | E>Q | No |
ClinGen gnomAD |
|
|
CA340043864 rs1425020654 |
682 | F>L | No |
ClinGen gnomAD |
|
|
rs755082680 CA814173 |
682 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs755082680 CA814174 |
682 | F>V | No |
ClinGen ExAC gnomAD |
|
|
rs1011045049 CA21692899 |
682 | F>Y | No |
ClinGen Ensembl |
|
|
CA340043878 rs1323823150 |
684 | G>S | No |
ClinGen gnomAD |
|
|
CA340043900 rs1367013138 |
685 | F>C | No |
ClinGen gnomAD |
|
|
rs371336521 CA814178 |
689 | C>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs756920696 CA814179 |
689 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs1570866149 CA340043965 |
690 | G>R | No |
ClinGen Ensembl |
|
|
CA814181 rs745551947 |
692 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 694 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759869552 CA21692939 |
696 | A>T | No |
ClinGen Ensembl |
|
| TCGA novel | 698 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 698 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA814183 rs775120235 |
701 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs748602085 CA814184 |
702 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA340044142 rs1353643767 |
703 | K>N | No |
ClinGen TOPMed |
|
|
rs1371526800 CA340044232 |
710 | C>R | No |
ClinGen gnomAD |
|
|
rs375427182 CA814186 COSM909899 |
713 | S>L | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs766548287 CA814188 |
715 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA340044295 rs1185046980 |
715 | G>S | No |
ClinGen TOPMed |
|
|
CA814189 rs774525009 |
718 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA814191 rs767483636 |
721 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA340044434 rs1188710584 |
724 | T>I | No |
ClinGen TOPMed |
|
|
CA340044441 rs1557917947 |
725 | P>L | No |
ClinGen Ensembl |
|
|
CA340044475 rs1557917956 |
728 | E>K | No |
ClinGen Ensembl |
|
|
CA340044662 CA340044674 rs190032475 |
734 | I>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA814194 rs190032475 |
734 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs757083813 CA814196 |
736 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA340044841 rs1345384181 |
740 | K>N | No |
ClinGen gnomAD |
|
|
rs148060723 CA814197 |
742 | S>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs144765200 CA814199 |
743 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs144765200 CA814200 |
743 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs181667228 COSM355924 CA814202 |
744 | R>Q | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs371661735 CA814201 |
744 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA21693662 rs960224277 |
753 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA814214 rs757318540 |
754 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs765116932 CA814215 |
755 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA814216 rs750250292 |
756 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs747618804 CA814217 |
756 | K>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA21693699 rs375208238 |
758 | S>F | No |
ClinGen ESP |
|
|
rs1374660518 CA340045264 |
765 | R>W | No |
ClinGen gnomAD |
|
|
rs532436936 CA814219 |
767 | S>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1338079893 CA340045329 |
770 | A>V | No |
ClinGen TOPMed |
|
|
rs1305279663 CA340045337 |
771 | L>R | No |
ClinGen TOPMed |
|
|
rs1228700732 CA340046367 |
774 | D>G | No |
ClinGen TOPMed |
|
|
CA814235 rs765282194 |
776 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA814236 rs750138976 |
779 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1231159008 CA340046480 |
781 | R>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 786 | Q>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA340046606 rs1296543109 |
787 | R>K | No |
ClinGen gnomAD |
|
| TCGA novel | 790 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA340046706 rs1468976666 |
792 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
rs766131264 CA814238 |
792 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1332640773 CA340046912 |
793 | W>G | No |
ClinGen gnomAD |
|
|
CA340046938 rs1383562123 |
794 | V>A | No |
ClinGen TOPMed |
|
|
CA340046928 rs1438699209 |
794 | V>I | No |
ClinGen gnomAD |
|
|
rs1394189744 CA340047067 |
803 | L>Q | No |
ClinGen TOPMed |
|
| TCGA novel | 803 | L>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs773175514 CA814253 |
808 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs202244306 COSM3720142 CA814254 |
809 | N>S | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1184332323 CA340047216 |
810 | I>T | No |
ClinGen gnomAD |
|
|
rs891767912 CA21695659 |
810 | I>V | No |
ClinGen TOPMed |
|
|
rs1259257784 CA340047223 |
811 | A>T | No |
ClinGen gnomAD |
|
|
CA814255 rs766183454 |
812 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1475241011 CA340047240 |
812 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1475241011 CA340047242 |
812 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA340047290 rs1416286682 |
814 | S>G | No |
ClinGen gnomAD |
|
|
CA340047309 rs1162098072 |
814 | S>R | No |
ClinGen gnomAD |
|
|
rs1391422317 CA340047329 |
815 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1160488177 CA340047358 |
817 | D>N | No |
ClinGen gnomAD |
|
|
rs759124557 CA814257 |
818 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1314993948 CA340047492 |
822 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA340047499 rs1356395747 |
823 | L>M | No |
ClinGen gnomAD |
|
|
CA21695679 rs980568884 |
824 | P>L | No |
ClinGen gnomAD |
|
|
rs1375643320 CA340047523 |
825 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1462901601 CA340047525 COSM909900 |
825 | R>H | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs752161467 CA814259 |
826 | F>C | No |
ClinGen ExAC gnomAD |
|
|
CA814260 rs755589298 |
827 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA340047763 rs1280481215 |
831 | I>N | No |
ClinGen TOPMed |
|
|
COSM3386189 CA814281 rs753288755 |
832 | F>L | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs750367448 CA21696116 |
836 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA340047853 rs1570872247 |
836 | R>W | No |
ClinGen Ensembl |
|
|
rs766819559 CA814283 |
837 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340047890 rs1438914461 |
839 | R>T | No |
ClinGen TOPMed |
|
|
CA814284 rs751935212 |
845 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA340047958 rs1410581777 |
845 | V>M | No |
ClinGen gnomAD |
|
|
CA814285 rs755367705 |
849 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1029602478 CA21696137 |
849 | H>Y | No |
ClinGen gnomAD |
|
|
CA340048022 rs1371457006 |
850 | G>S | No |
ClinGen gnomAD |
|
|
CA340048070 rs1570872347 |
854 | T>A | No |
ClinGen Ensembl |
|
|
CA340048111 rs1570872353 |
857 | H>P | No |
ClinGen Ensembl |
|
|
CA340048124 rs1256578931 |
858 | V>A | No |
ClinGen gnomAD |
|
|
CA340048122 rs1256578931 |
858 | V>E | No |
ClinGen gnomAD |
|
| TCGA novel | 860 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 862 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1570872387 CA340048178 |
863 | A>P | No |
ClinGen Ensembl |
|
|
rs749343047 CA814290 |
865 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs774124041 CA814292 |
867 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA21696234 rs781335803 |
868 | M>T | No |
ClinGen Ensembl |
|
|
rs1009747471 CA21696230 |
868 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA340048324 rs1197254572 |
874 | P>A | No |
ClinGen gnomAD |
|
|
CA814293 rs745854894 |
875 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs867327470 CA21696248 |
876 | V>M | No |
ClinGen Ensembl |
|
|
CA21696252 VAR_031217 rs12759032 |
877 | V>G | No |
ClinGen UniProt Ensembl dbSNP |
|
|
CA814294 rs771841360 |
879 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs867714578 CA21696271 |
880 | T>I | No |
ClinGen Ensembl |
|
|
CA814295 rs775326605 |
883 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs1425619898 CA340048431 |
883 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA21696288 rs370997898 |
886 | I>M | No |
ClinGen ESP gnomAD |
|
|
rs200451367 CA814297 |
886 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA814298 rs776155058 |
888 | N>H | No |
ClinGen ExAC gnomAD |
|
|
rs374602437 CA814299 |
888 | N>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs377573574 CA814300 |
890 | E>G | No |
ClinGen ESP TOPMed |
|
|
rs760913954 CA814328 |
891 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA340049608 rs1365520832 |
891 | R>H | No |
ClinGen gnomAD |
|
|
rs764565517 CA814329 |
892 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340049618 rs1157865074 |
892 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA340049652 rs1394472335 |
894 | G>E | No |
ClinGen gnomAD |
|
|
rs1455398185 CA340049648 |
894 | G>R | No |
ClinGen TOPMed |
|
|
rs1165174165 CA340049666 |
895 | A>D | No |
ClinGen TOPMed |
|
|
rs753989880 CA814330 |
895 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340049670 rs1165174165 |
895 | A>V | No |
ClinGen TOPMed |
|
|
CA340049722 rs1313125110 |
898 | S>N | No |
ClinGen gnomAD |
|
|
CA814332 rs778897739 |
900 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1331436218 CA340049768 |
902 | G>S | No |
ClinGen gnomAD |
|
|
rs750514845 CA814333 |
903 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340049788 rs1557921306 |
904 | K>E | No |
ClinGen Ensembl |
|
|
rs1238999343 CA340049810 |
905 | V>L | No |
ClinGen gnomAD |
|
|
rs1307472251 CA340049823 |
906 | I>V | No |
ClinGen gnomAD |
|
|
CA340049866 rs1262983971 |
908 | K>M | No |
ClinGen TOPMed |
|
|
CA814334 rs758281188 |
909 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs768314345 CA814337 |
912 | G>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 912 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs747009449 CA814336 |
912 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781099856 CA814338 |
913 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs1267945189 CA340049964 |
915 | Y>N | No |
ClinGen TOPMed |
|
|
rs747751523 CA814339 |
916 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1228678406 CA340050008 |
917 | C>F | No |
ClinGen gnomAD |
|
|
rs772794056 CA340050023 |
918 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772794056 CA814341 |
918 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340050050 rs1282647946 |
919 | V>A | No |
ClinGen TOPMed |
|
|
CA21698439 rs878942971 |
919 | V>L | No |
ClinGen Ensembl |
|
|
rs1199458527 CA340050059 |
920 | V>F | No |
ClinGen gnomAD |
|
|
rs1199458527 CA340050055 |
920 | V>I | No |
ClinGen gnomAD |
|
|
rs967668303 CA340050079 |
921 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
CA21698449 rs967668303 |
921 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA21698453 rs979091014 |
922 | L>F | No |
ClinGen TOPMed |
|
|
rs1387622526 CA340050118 |
924 | T>A | No |
ClinGen TOPMed |
|
|
rs1326411723 CA340050130 |
924 | T>I | No |
ClinGen TOPMed |
|
|
rs1411112297 CA340050158 |
925 | E>D | No |
ClinGen TOPMed |
|
|
CA814344 rs776115237 |
926 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1299347574 CA340050222 |
929 | E>D | No |
ClinGen gnomAD |
|
|
CA340050247 rs1475433723 |
931 | N>T | No |
ClinGen TOPMed |
|
|
rs11551208 CA21698485 |
932 | F>L | No |
ClinGen Ensembl |
|
|
CA814349 rs765466175 |
939 | D>N | No |
ClinGen ExAC |
|
|
rs750460404 CA814350 |
940 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340050443 rs1442168749 |
942 | Y>C | No |
ClinGen gnomAD |
|
| TCGA novel | 944 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs963612416 CA21698517 |
947 | V>L | No |
ClinGen gnomAD |
|
|
CA340051079 rs1487386784 |
951 | C>R | No |
ClinGen gnomAD |
|
|
CA21701852 rs1057392065 |
959 | E>K | No |
ClinGen Ensembl |
|
|
rs895658545 CA21701855 |
960 | G>R | No |
ClinGen Ensembl |
|
|
CA814374 rs767516016 |
962 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA340051163 rs1262068230 |
962 | V>M | No |
ClinGen gnomAD |
|
|
rs1419427840 CA340051218 |
970 | G>S | No |
ClinGen gnomAD |
|
|
CA340051226 rs1462376422 |
971 | Q>K | No |
ClinGen gnomAD |
|
|
CA814378 rs748941941 |
974 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs146716388 CA814379 |
975 | A>S | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 975 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1289652086 CA340051282 |
979 | A>V | No |
ClinGen gnomAD |
|
|
CA340051289 rs1570888234 |
980 | S>F | No |
ClinGen Ensembl |
|
|
rs778228042 CA340051294 |
981 | H>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 981 | H>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs778228042 CA814380 |
981 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA814382 rs745404946 |
983 | I>L | No |
ClinGen ExAC |
|
|
CA814407 rs143474834 |
988 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA21702030 rs977439205 |
989 | E>G | No |
ClinGen Ensembl |
|
|
CA814408 rs778054012 |
996 | L>H | No |
ClinGen ExAC gnomAD |
|
|
rs1291200358 CA340051462 |
1003 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA340051459 rs1233769288 |
1003 | V>L | No |
ClinGen TOPMed |
|
|
CA340051489 rs1281313617 |
1007 | D>E | No |
ClinGen TOPMed |
|
| TCGA novel | 1007 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA340051483 rs1380002679 |
1007 | D>N | No |
ClinGen gnomAD |
|
|
rs771022535 CA814410 |
1009 | E>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1012 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1013 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1334821943 CA340051528 |
1013 | R>K | No |
ClinGen TOPMed |
|
|
CA21702043 rs1056554688 |
1015 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs759728805 CA814412 |
1018 | L>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA814426 rs756568719 |
1020 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA814427 rs778288602 |
1023 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA21702121 rs892204617 |
1023 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1399756575 CA340051605 |
1024 | M>V | No |
ClinGen TOPMed |
|
|
rs1570889374 COSM909901 CA340051613 |
1025 | R>C | endometrium [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA21702128 rs1013314738 |
1027 | N>S | No |
ClinGen TOPMed |
|
|
CA814428 rs375515047 |
1030 | F>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1557925132 CA340051668 |
1032 | E>D | No |
ClinGen Ensembl |
|
|
CA814429 rs771307238 |
1034 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA21702140 rs994500438 |
1034 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs200945656 CA340051685 |
1035 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA814430 rs200945656 |
1035 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA21702147 rs878987672 |
1036 | K>R | No |
ClinGen Ensembl |
|
| TCGA novel | 1038 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1041 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1045 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs368939797 CA21702149 |
1047 | S>* | No |
ClinGen ESP |
|
|
CA340051768 rs1257947430 |
1047 | S>P | No |
ClinGen gnomAD |
|
|
rs1216117189 CA340051875 |
1050 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs768897044 CA814435 |
1060 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340051995 rs1244112001 |
1060 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA340052004 rs1193089297 |
1061 | A>T | No |
ClinGen gnomAD |
|
|
CA340052027 rs372241037 |
1063 | M>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA814436 rs372241037 |
1063 | M>V | No |
ClinGen ESP ExAC gnomAD |
No associated diseases with O75164
12 regional properties for O75164
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Zinc finger, PHD-type | 709 - 767 | IPR001965-1 |
| domain | Zinc finger, PHD-type | 829 - 885 | IPR001965-2 |
| domain | Tudor domain | 897 - 954 | IPR002999-1 |
| domain | Tudor domain | 955 - 1011 | IPR002999-2 |
| domain | JmjC domain | 142 - 308 | IPR003347 |
| domain | JmjN domain | 13 - 56 | IPR003349 |
| domain | Extended PHD (ePHD) domain | 772 - 885 | IPR034732 |
| domain | Lysine-specific demethylase 4-like, Tudor domain | 902 - 936 | IPR040477-1 |
| domain | Lysine-specific demethylase 4-like, Tudor domain | 960 - 994 | IPR040477-2 |
| domain | Lysine-specific demethylase 4A, first Tudor domain | 899 - 953 | IPR047479 |
| domain | Lysine-specific demethylase 4A, second Tudor domain | 956 - 1011 | IPR047481 |
| domain | Lysine-specific demethylase 4A, extended PHD finger | 775 - 884 | IPR047482 |
Functions
| Description | ||
|---|---|---|
| EC Number | 1.14.11.66 | With 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
5 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. |
| fibrillar center | A structure found most metazoan nucleoli, but not usually found in lower eukaryotes; surrounded by the dense fibrillar component; the zone of transcription from multiple copies of the pre-rRNA genes is in the border region between these two structures. |
| 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. |
| pericentric heterochromatin | Heterochromatin that is located adjacent to the CENP-A rich centromere 'central core' and characterized by methylated H3 histone at lysine 9 (H3K9me2/H3K9me3). |
8 GO annotations of molecular function
| Name | Definition |
|---|---|
| histone demethylase activity | Catalysis of the removal of a methyl group from a histone. |
| histone H3-methyl-lysine-36 demethylase activity | Catalysis of the removal of a methyl group from a modified lysine residue at position 36 of the histone H3 protein. This is a dioxygenase reaction that is dependent on Fe(II) and 2-oxoglutarate. |
| histone H3-methyl-lysine-9 demethylase activity | Catalysis of the removal of a methyl group from a modified lysine residue at position 9 of the histone H3 protein. |
| histone H3-tri/dimethyl-lysine-36 demethylase activity | Catalysis of the removal of a methyl group from a tri- or a dimethyl-lysine residue at position 36 of the histone H3 protein. This is a dioxygenase reaction that is dependent on Fe(II) and 2-oxoglutarate. |
| histone H3-tri/dimethyl-lysine-9 demethylase activity | Catalysis of the removal of a methyl group from a tri or a dimethyl-lysine residue at position 9 of the histone H3 protein. This is a dioxygenase reaction that is dependent on Fe(II) and 2-oxoglutarate. |
| methylated histone binding | Binding to a histone in which a residue has been modified by methylation. |
| ubiquitin protein ligase binding | Binding to a ubiquitin protein ligase enzyme, any of the E3 proteins. |
| zinc ion binding | Binding to a zinc ion (Zn). |
14 GO annotations of biological process
| Name | Definition |
|---|---|
| cardiac muscle hypertrophy in response to stress | The physiological enlargement or overgrowth of all or part of the heart muscle due to an increase in size (not length) of individual cardiac muscle fibers, without cell division, as a result of a disturbance in organismal or cellular homeostasis. |
| chromatin remodeling | A dynamic process of chromatin reorganization resulting in changes to chromatin structure. These changes allow DNA metabolic processes such as transcriptional regulation, DNA recombination, DNA repair, and DNA replication. |
| histone demethylation | The modification of histones by removal of methyl groups. |
| histone H3-K36 demethylation | The modification of histone H3 by the removal of a methyl group from lysine at position 36 of the histone. |
| histone H3-K9 demethylation | The modification of histone H3 by the removal of a methyl group from lysine at position 9 of the histone. |
| negative regulation of astrocyte differentiation | Any process that stops, prevents, or reduces the frequency, rate or extent of astrocyte differentiation. |
| negative regulation of autophagy | Any process that stops, prevents, or reduces the frequency, rate or extent of autophagy. Autophagy is the process in which cells digest parts of their own cytoplasm. |
| negative regulation of cell death | Any process that decreases 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. |
| negative regulation of DNA-templated transcription | Any process that stops, prevents, or reduces the frequency, rate or extent of cellular DNA-templated transcription. |
| negative regulation of gene expression | Any process that decreases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA). |
| negative regulation of histone H3-K9 trimethylation | Any process that stops, prevents or reduces the frequency, rate or extent of histone H3-K9 trimethylation. |
| positive regulation of gene expression | Any process that increases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA). |
| positive regulation of neuron differentiation | Any process that activates or increases the frequency, rate or extent of neuron differentiation. |
| response to nutrient levels | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus reflecting the presence, absence, or concentration of nutrients. |
4 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q9BY66 | KDM5D | Lysine-specific demethylase 5D | Homo sapiens (Human) | PR |
| O94953 | KDM4B | Lysine-specific demethylase 4B | Homo sapiens (Human) | PR |
| Q3U2K5 | Kdm4d | Lysine-specific demethylase 4D | Mus musculus (Mouse) | PR |
| Q8BW72 | Kdm4a | Lysine-specific demethylase 4A | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MASESETLNP | SARIMTFYPT | MEEFRNFSRY | IAYIESQGAH | RAGLAKVVPP | KEWKPRASYD |
| 70 | 80 | 90 | 100 | 110 | 120 |
| DIDDLVIPAP | IQQLVTGQSG | LFTQYNIQKK | AMTVREFRKI | ANSDKYCTPR | YSEFEELERK |
| 130 | 140 | 150 | 160 | 170 | 180 |
| YWKNLTFNPP | IYGADVNGTL | YEKHVDEWNI | GRLRTILDLV | EKESGITIEG | VNTPYLYFGM |
| 190 | 200 | 210 | 220 | 230 | 240 |
| WKTSFAWHTE | DMDLYSINYL | HFGEPKSWYS | VPPEHGKRLE | RLAKGFFPGS | AQSCEAFLRH |
| 250 | 260 | 270 | 280 | 290 | 300 |
| KMTLISPLML | KKYGIPFDKV | TQEAGEFMIT | FPYGYHAGFN | HGFNCAESTN | FATRRWIEYG |
| 310 | 320 | 330 | 340 | 350 | 360 |
| KQAVLCSCRK | DMVKISMDVF | VRKFQPERYK | LWKAGKDNTV | IDHTLPTPEA | AEFLKESELP |
| 370 | 380 | 390 | 400 | 410 | 420 |
| PRAGNEEECP | EEDMEGVEDG | EEGDLKTSLA | KHRIGTKRHR | VCLEIPQEVS | QSELFPKEDL |
| 430 | 440 | 450 | 460 | 470 | 480 |
| SSEQYEMTEC | PAALAPVRPT | HSSVRQVEDG | LTFPDYSDST | EVKFEELKNV | KLEEEDEEEE |
| 490 | 500 | 510 | 520 | 530 | 540 |
| QAAAALDLSV | NPASVGGRLV | FSGSKKKSSS | SLGSGSSRDS | ISSDSETSEP | LSCRAQGQTG |
| 550 | 560 | 570 | 580 | 590 | 600 |
| VLTVHSYAKG | DGRVTVGEPC | TRKKGSAARS | FSERELAEVA | DEYMFSLEEN | KKSKGRRQPL |
| 610 | 620 | 630 | 640 | 650 | 660 |
| SKLPRHHPLV | LQECVSDDET | SEQLTPEEEA | EETEAWAKPL | SQLWQNRPPN | FEAEKEFNET |
| 670 | 680 | 690 | 700 | 710 | 720 |
| MAQQAPHCAV | CMIFQTYHQV | EFGGFNQNCG | NASDLAPQKQ | RTKPLIPEMC | FTSTGCSTDI |
| 730 | 740 | 750 | 760 | 770 | 780 |
| NLSTPYLEED | GTSILVSCKK | CSVRVHASCY | GVPPAKASED | WMCSRCSANA | LEEDCCLCSL |
| 790 | 800 | 810 | 820 | 830 | 840 |
| RGGALQRAND | DRWVHVSCAV | AILEARFVNI | AERSPVDVSK | IPLPRFKLKC | IFCKKRRKRT |
| 850 | 860 | 870 | 880 | 890 | 900 |
| AGCCVQCSHG | RCPTAFHVSC | AQAAGVMMQP | DDWPFVVFIT | CFRHKIPNLE | RAKGALQSIT |
| 910 | 920 | 930 | 940 | 950 | 960 |
| AGQKVISKHK | NGRFYQCEVV | RLTTETFYEV | NFDDGSFSDN | LYPEDIVSQD | CLQFGPPAEG |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| EVVQVRWTDG | QVYGAKFVAS | HPIQMYQVEF | EDGSQLVVKR | DDVYTLDEEL | PKRVKSRLSV |
| 1030 | 1040 | 1050 | 1060 | ||
| ASDMRFNEIF | TEKEVKQEKK | RQRVINSRYR | EDYIEPALYR | AIME |