O95696

PR
Gene name
BRD1
Protein name
Bromodomain-containing protein 1
Names
BR140-like protein, Bromodomain and PHD finger-containing protein 2
Species
Homo sapiens (Human)
KEGG Pathway
hsa:23774
EC number
Protein Class

Descriptions

The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.

Autoinhibitory domains (AIDs)

815-885 (Predicted disordered autoinhibitory region) PR

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

Autoinhibited structure

Activated structure

318 structures for O95696

Entry ID Method Resolution Chain Position Source
2KU3 NMR - A 208-269 PDB
2L43 NMR - A 205-269 PDB
2LQ6 NMR - A 317-392 PDB
3LYI X-ray 210 A A/B 925-1049 PDB
3RCW X-ray 221 A A/B/C/D/E/F/G/H 556-688 PDB
4Z02 X-ray 187 A A/B 925-1049 PDB
5AME X-ray 158 A A/B 556-688 PDB
5AMF X-ray 175 A A/B 556-688 PDB
5FG6 X-ray 110 A A 563-688 PDB
5GK9 X-ray 240 A B 31-80 PDB
5N49 X-ray 194 A A/B 555-688 PDB
5PNX X-ray 147 A A/B 555-688 PDB
5PNY X-ray 148 A A/B 555-688 PDB
5PNZ X-ray 156 A A/B 555-688 PDB
5PO0 X-ray 146 A A/B 555-688 PDB
5PO1 X-ray 152 A A/B 555-688 PDB
5PO2 X-ray 167 A A/B 555-688 PDB
5PO3 X-ray 170 A A/B 555-688 PDB
5PO4 X-ray 149 A A/B 555-688 PDB
5PO5 X-ray 144 A A/B 555-688 PDB
5PO6 X-ray 161 A A/B 555-688 PDB
5PO7 X-ray 150 A A/B 555-688 PDB
5PO8 X-ray 150 A A/B 555-688 PDB
5PO9 X-ray 212 A A/B 555-688 PDB
5POA X-ray 162 A A/B 555-688 PDB
5POB X-ray 178 A A/B 555-688 PDB
5POC X-ray 148 A A/B 555-688 PDB
5POD X-ray 156 A A/B 555-688 PDB
5POE X-ray 152 A A/B 555-688 PDB
5POF X-ray 227 A A/B 555-688 PDB
5POG X-ray 177 A A/B 555-688 PDB
5POH X-ray 161 A A/B 555-688 PDB
5POI X-ray 237 A A/B 555-688 PDB
5POJ X-ray 162 A A/B 555-688 PDB
5POK X-ray 156 A A/B 555-688 PDB
5POL X-ray 162 A A/B 555-688 PDB
5POM X-ray 154 A A/B 555-688 PDB
5PON X-ray 152 A A/B 555-688 PDB
5POO X-ray 150 A A/B 555-688 PDB
5POP X-ray 158 A A/B 555-688 PDB
5POQ X-ray 197 A A/B 555-688 PDB
5POR X-ray 158 A A/B 555-688 PDB
5POS X-ray 175 A A/B 555-688 PDB
5POT X-ray 163 A A/B 555-688 PDB
5POU X-ray 143 A A/B 555-688 PDB
5POV X-ray 157 A A/B 555-688 PDB
5POW X-ray 177 A A/B 555-688 PDB
5POX X-ray 175 A A/B 555-688 PDB
5POY X-ray 176 A A/B 555-688 PDB
5POZ X-ray 150 A A/B 555-688 PDB
5PP0 X-ray 161 A A/B 555-688 PDB
5PP1 X-ray 235 A A/B 555-688 PDB
5PP2 X-ray 161 A A/B 555-688 PDB
5PP3 X-ray 258 A A/B 555-688 PDB
5PP4 X-ray 192 A A/B 555-688 PDB
5PP5 X-ray 187 A A/B 555-688 PDB
5PP6 X-ray 152 A A/B 555-688 PDB
5PP7 X-ray 152 A A/B 555-688 PDB
5PP8 X-ray 174 A A/B 555-688 PDB
5PP9 X-ray 182 A A/B 555-688 PDB
5PPA X-ray 191 A A/B 555-688 PDB
5PPB X-ray 148 A A/B 555-688 PDB
5PPC X-ray 161 A A/B 555-688 PDB
5PPD X-ray 167 A A/B 555-688 PDB
5PPE X-ray 146 A A/B 555-688 PDB
5PPF X-ray 164 A A/B 555-688 PDB
5PPG X-ray 155 A A/B 555-688 PDB
5PPH X-ray 189 A A/B 555-688 PDB
5PPI X-ray 156 A A/B 555-688 PDB
5PPJ X-ray 161 A A/B 555-688 PDB
5PPK X-ray 187 A A/B 555-688 PDB
5PPL X-ray 163 A A/B 555-688 PDB
5PPM X-ray 187 A A/B 555-688 PDB
5PPN X-ray 180 A A/B 555-688 PDB
5PPO X-ray 184 A A/B 555-688 PDB
5PPP X-ray 168 A A/B 555-688 PDB
5PPQ X-ray 170 A A/B 555-688 PDB
5PPR X-ray 269 A A/B 555-688 PDB
5PPS X-ray 153 A A/B 555-688 PDB
5PPT X-ray 161 A A/B 555-688 PDB
5PPU X-ray 163 A A/B 555-688 PDB
5PPV X-ray 170 A A/B 555-688 PDB
5PPW X-ray 145 A A/B 555-688 PDB
5PPX X-ray 144 A A/B 555-688 PDB
5PPY X-ray 145 A A/B 555-688 PDB
5PPZ X-ray 155 A A/B 555-688 PDB
5PQ0 X-ray 181 A A/B 555-688 PDB
5PQ1 X-ray 155 A A/B 555-688 PDB
5PQ2 X-ray 147 A A/B 555-688 PDB
5PQ3 X-ray 172 A A/B 555-688 PDB
5PQ4 X-ray 163 A A/B 555-688 PDB
5PQ5 X-ray 160 A A/B 555-688 PDB
5PQ6 X-ray 164 A A/B 555-688 PDB
5PQ7 X-ray 156 A A/B 555-688 PDB
5PQ8 X-ray 165 A A/B 555-688 PDB
5PQ9 X-ray 160 A A/B 555-688 PDB
5PQA X-ray 178 A A/B 555-688 PDB
5PQB X-ray 158 A A/B 555-688 PDB
5PQC X-ray 145 A A/B 555-688 PDB
5PQD X-ray 165 A A/B 555-688 PDB
5PQE X-ray 153 A A/B 555-688 PDB
5PQF X-ray 165 A A/B 555-688 PDB
5PQG X-ray 182 A A/B 555-688 PDB
5PQH X-ray 152 A A/B 555-688 PDB
5PQI X-ray 133 A A/B 555-688 PDB
5PQJ X-ray 159 A A/B 555-688 PDB
5PQK X-ray 158 A A/B 555-688 PDB
5PQL X-ray 152 A A/B 555-688 PDB
5PQM X-ray 256 A A/B 555-688 PDB
5PQN X-ray 200 A A/B 555-688 PDB
5PQO X-ray 175 A A/B 555-688 PDB
5PQP X-ray 197 A A/B 555-688 PDB
5PQQ X-ray 230 A A/B 555-688 PDB
5PQR X-ray 243 A A/B 555-688 PDB
5PQS X-ray 182 A A/B 555-688 PDB
5PQT X-ray 189 A A/B 555-688 PDB
5PQU X-ray 200 A A/B 555-688 PDB
5PQV X-ray 197 A A/B 555-688 PDB
5PQW X-ray 200 A A/B 555-688 PDB
5PQX X-ray 195 A A/B 555-688 PDB
5PQY X-ray 189 A A/B 555-688 PDB
5PQZ X-ray 258 A A/B 555-688 PDB
5PR0 X-ray 223 A A/B 555-688 PDB
5PR1 X-ray 210 A A/B 555-688 PDB
5PR2 X-ray 210 A A/B 555-688 PDB
5PR4 X-ray 182 A A/B 555-688 PDB
5PR5 X-ray 195 A A/B 555-688 PDB
5PR6 X-ray 180 A A/B 555-688 PDB
5PR7 X-ray 180 A A/B 555-688 PDB
5PR8 X-ray 192 A A/B 555-688 PDB
5PR9 X-ray 182 A A/B 555-688 PDB
5PRA X-ray 187 A A/B 555-688 PDB
5PRB X-ray 223 A A/B 555-688 PDB
5PRD X-ray 190 A A/B 555-688 PDB
5PRE X-ray 173 A A/B 555-688 PDB
5PRF X-ray 182 A A/B 555-688 PDB
5PRG X-ray 268 A A/B 555-688 PDB
5PRH X-ray 195 A A/B 555-688 PDB
5PRI X-ray 190 A A/B 555-688 PDB
5PRJ X-ray 217 A A/B 555-688 PDB
5PRK X-ray 223 A A/B 555-688 PDB
5PRL X-ray 175 A A/B 555-688 PDB
5PRM X-ray 358 A A/B 555-688 PDB
5PRO X-ray 155 A A/B 555-688 PDB
5PRP X-ray 145 A A/B 555-688 PDB
5PRQ X-ray 168 A A/B 555-688 PDB
5PRR X-ray 163 A A/B 555-688 PDB
5PRS X-ray 172 A A/B 555-688 PDB
5PRT X-ray 189 A A/B 555-688 PDB
5PRU X-ray 158 A A/B 555-688 PDB
5PRV X-ray 162 A A/B 555-688 PDB
5PRW X-ray 165 A A/B 555-688 PDB
5PRX X-ray 187 A A/B 555-688 PDB
5PRY X-ray 180 A A/B 555-688 PDB
5PRZ X-ray 162 A A/B 555-688 PDB
5PS0 X-ray 168 A A/B 555-688 PDB
5PS1 X-ray 171 A A/B 555-688 PDB
5PS2 X-ray 155 A A/B 555-688 PDB
5PS3 X-ray 193 A A/B 555-688 PDB
5PS4 X-ray 170 A A/B 555-688 PDB
5PS5 X-ray 215 A A/B 555-688 PDB
5PS6 X-ray 152 A A/B 555-688 PDB
5PS7 X-ray 221 A A/B 555-688 PDB
5PS8 X-ray 193 A A/B 555-688 PDB
5PS9 X-ray 171 A A/B 555-688 PDB
5PSA X-ray 164 A A/B 555-688 PDB
5PSB X-ray 162 A A/B 555-688 PDB
5PSC X-ray 168 A A/B 555-688 PDB
5PSD X-ray 163 A A/B 555-688 PDB
5PSE X-ray 219 A A/B 555-688 PDB
5PSF X-ray 231 A A/B 555-688 PDB
5PSG X-ray 155 A A/B 555-688 PDB
5PSH X-ray 343 A A/B 555-688 PDB
5PSI X-ray 162 A A/B 555-688 PDB
5PSJ X-ray 138 A A/B 555-688 PDB
5PSK X-ray 138 A A/B 555-688 PDB
5PSL X-ray 139 A A/B 555-688 PDB
5PSM X-ray 153 A A/B 555-688 PDB
5PSN X-ray 148 A A/B 555-688 PDB
5PSO X-ray 155 A A/B 555-688 PDB
5PSP X-ray 158 A A/B 555-688 PDB
5PSQ X-ray 143 A A/B 555-688 PDB
5PSR X-ray 159 A A/B 555-688 PDB
5PSS X-ray 159 A A/B 555-688 PDB
5PST X-ray 139 A A/B 555-688 PDB
5PSU X-ray 156 A A/B 555-688 PDB
5PSV X-ray 153 A A/B 555-688 PDB
5PSW X-ray 153 A A/B 555-688 PDB
5PSX X-ray 159 A A/B 555-688 PDB
5PSY X-ray 182 A A/B 555-688 PDB
5PSZ X-ray 153 A A/B 555-688 PDB
5PT0 X-ray 143 A A/B 555-688 PDB
5PT1 X-ray 154 A A/B 555-688 PDB
5PT2 X-ray 152 A A/B 555-688 PDB
5PT3 X-ray 170 A A/B 555-688 PDB
5PT4 X-ray 154 A A/B 555-688 PDB
5PT5 X-ray 176 A A/B 555-688 PDB
5PT6 X-ray 153 A A/B 555-688 PDB
5PT7 X-ray 155 A A/B 555-688 PDB
5PT8 X-ray 166 A A/B 555-688 PDB
5PT9 X-ray 147 A A/B 555-688 PDB
5PTA X-ray 219 A A/B 555-688 PDB
5PTB X-ray 188 A A/B 555-688 PDB
5PTC X-ray 178 A A/B 555-688 PDB
5PTE X-ray 163 A A/B 555-688 PDB
5PTF X-ray 149 A A/B 555-688 PDB
5PTG X-ray 146 A A/B 555-688 PDB
5PTH X-ray 156 A A/B 555-688 PDB
5PTJ X-ray 169 A A/B 555-688 PDB
5PTK X-ray 148 A A/B 555-688 PDB
5PTL X-ray 153 A A/B 555-688 PDB
5PTM X-ray 141 A A/B 555-688 PDB
5PTN X-ray 147 A A/B 555-688 PDB
5PTO X-ray 167 A A/B 555-688 PDB
5PTQ X-ray 149 A A/B 555-688 PDB
5PTR X-ray 152 A A/B 555-688 PDB
5PTS X-ray 145 A A/B 555-688 PDB
5PTT X-ray 147 A A/B 555-688 PDB
5PTU X-ray 169 A A/B 555-688 PDB
5PTV X-ray 170 A A/B 555-688 PDB
5PTW X-ray 182 A A/B 555-688 PDB
5PTX X-ray 160 A A/B 555-688 PDB
5PTY X-ray 210 A A/B 555-688 PDB
5PTZ X-ray 151 A A/B 555-688 PDB
5PU0 X-ray 189 A A/B 555-688 PDB
5PU1 X-ray 173 A A/B 555-688 PDB
5PU2 X-ray 159 A A/B 555-688 PDB
5PU3 X-ray 237 A A/B 555-688 PDB
5PU4 X-ray 155 A A/B 555-688 PDB
5PU5 X-ray 155 A A/B 555-688 PDB
5PU6 X-ray 174 A A/B 555-688 PDB
5PU7 X-ray 162 A A/B 555-688 PDB
5PU8 X-ray 155 A A/B 555-688 PDB
5PU9 X-ray 156 A A/B 555-688 PDB
5PUA X-ray 163 A A/B 555-688 PDB
5PUB X-ray 223 A A/B 555-688 PDB
5PUC X-ray 164 A A/B 555-688 PDB
5PUD X-ray 201 A A/B 555-688 PDB
5PUE X-ray 170 A A/B 555-688 PDB
5PUF X-ray 182 A A/B 555-688 PDB
5PUG X-ray 200 A A/B 555-688 PDB
5PUH X-ray 192 A A/B 555-688 PDB
5PUI X-ray 151 A A/B 555-688 PDB
5PUJ X-ray 190 A A/B 555-688 PDB
5PUK X-ray 164 A A/B 555-688 PDB
5PUL X-ray 195 A A/B 555-688 PDB
5PUM X-ray 215 A A/B 555-688 PDB
5PUN X-ray 184 A A/B 555-688 PDB
5PUO X-ray 206 A A/B 555-688 PDB
5PUP X-ray 160 A A/B 555-688 PDB
5PUQ X-ray 170 A A/B 555-688 PDB
5PUR X-ray 173 A A/B 555-688 PDB
5PUS X-ray 167 A A/B 555-688 PDB
5PUT X-ray 232 A A/B 555-688 PDB
5PUU X-ray 169 A A/B 555-688 PDB
5PUV X-ray 169 A A/B 555-688 PDB
5PUW X-ray 182 A A/B 555-688 PDB
5PUX X-ray 151 A A/B 555-688 PDB
5PUY X-ray 201 A A/B 555-688 PDB
5PUZ X-ray 149 A A/B 555-688 PDB
5PV0 X-ray 176 A A/B 555-688 PDB
5PV1 X-ray 173 A A/B 555-688 PDB
5PV2 X-ray 163 A A/B 555-688 PDB
5PV3 X-ray 148 A A/B 555-688 PDB
5PV4 X-ray 158 A A/B 555-688 PDB
5PV5 X-ray 168 A A/B 555-688 PDB
5PV6 X-ray 162 A A/B 555-688 PDB
5PV7 X-ray 158 A A/B 555-688 PDB
5PV8 X-ray 149 A A/B 555-688 PDB
5PV9 X-ray 167 A A/B 555-688 PDB
5PVA X-ray 198 A A/B 555-688 PDB
5PVB X-ray 153 A A/B 555-688 PDB
5PVC X-ray 156 A A/B 555-688 PDB
5PVD X-ray 153 A A/B 555-688 PDB
5PVE X-ray 229 A A/B 555-688 PDB
5PVF X-ray 171 A A/B 555-688 PDB
5PVG X-ray 169 A A/B 555-688 PDB
5PVH X-ray 169 A A/B 555-688 PDB
5PVI X-ray 219 A A/B 555-688 PDB
5PVJ X-ray 157 A A/B 555-688 PDB
5PVK X-ray 158 A A/B 555-688 PDB
5PVL X-ray 153 A A/B 555-688 PDB
5PVM X-ray 165 A A/B 555-688 PDB
5PVN X-ray 163 A A/B 555-688 PDB
5PVO X-ray 196 A A/B 555-688 PDB
5PVP X-ray 169 A A/B 555-688 PDB
5PVQ X-ray 161 A A/B 555-688 PDB
5PVR X-ray 157 A A/B 555-688 PDB
5PVS X-ray 155 A A/B 555-688 PDB
5PVT X-ray 148 A A/B 555-688 PDB
5PVU X-ray 301 A A/B 555-688 PDB
5PVV X-ray 180 A A/B 555-688 PDB
5PVW X-ray 218 A A/B 555-688 PDB
5PVX X-ray 174 A A/B 555-688 PDB
5PVY X-ray 249 A A/B 555-688 PDB
5PVZ X-ray 164 A A/B 555-688 PDB
5PW0 X-ray 213 A A/B 555-688 PDB
5PW1 X-ray 157 A A/B 555-688 PDB
5PW2 X-ray 232 A A/B 555-688 PDB
5PW3 X-ray 221 A A/B 555-688 PDB
5PW4 X-ray 191 A A/B 555-688 PDB
5PW5 X-ray 209 A A/B 555-688 PDB
5PW6 X-ray 275 A A/B 555-688 PDB
5PW7 X-ray 185 A A/B 555-688 PDB
5PW8 X-ray 208 A A/B 555-688 PDB
5PW9 X-ray 344 A A/B 555-688 PDB
5PWA X-ray 186 A A/B 555-688 PDB
5PWB X-ray 209 A A/B 555-688 PDB
6IN2 X-ray 175 A A 563-680 PDB
6MAJ X-ray 214 A B 31-80 PDB
6MAK X-ray 213 A B 31-80 PDB
7D0O X-ray 251 A B 31-80 PDB
7D0P X-ray 180 A B 31-80 PDB
7D0Q X-ray 221 A B 31-80 PDB
7D0R X-ray 195 A B 31-80 PDB
7D0S X-ray 230 A B 31-80 PDB
7LH9 X-ray 260 A A/B/C/D 925-1049 PDB
AF-O95696-F1 Predicted AlphaFoldDB

796 variants for O95696

Variant ID(s) Position Change Description Diseaes Association Provenance
rs756935750
CA10299392
 6 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA10299391
rs753681600
 8 H>Y Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs767589926
CA10299390
 9 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA10299389
rs759873730
 10 G>A No ClinGen
ExAC
gnomAD
TCGA novel 10 G>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 11 S>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1422746720
CA412092835
 13 A>E No ClinGen
TOPMed
gnomAD
CA412092838
rs1479967915
 13 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1422746720
CA412092833
 13 A>V No ClinGen
TOPMed
gnomAD
rs1325454885
CA412092831
 14 R>G No ClinGen
TOPMed
gnomAD
CA325460314
rs964126957
 14 R>K No ClinGen
Ensembl
rs1488733018
CA412092789
 17 S>F No ClinGen
gnomAD
CA325460309
rs911328919
 17 S>P No ClinGen
TOPMed
rs763180902
CA10299386
 18 S>F No ClinGen
ExAC
gnomAD
CA10299387
rs766547660
 18 S>T No ClinGen
ExAC
gnomAD
rs773584753
CA10299385
 19 P>L No ClinGen
ExAC
gnomAD
CA412092768
rs1293599622
 20 C>R No ClinGen
TOPMed
gnomAD
CA10299384
rs770334198
 21 S>I No ClinGen
ExAC
gnomAD
rs770334198
CA412092753
 21 S>N No ClinGen
ExAC
gnomAD
rs1258921086
CA412092757
 21 S>R No ClinGen
gnomAD
CA412092721
rs1352918440
 24 H>Y No ClinGen
TOPMed
rs1224471445
CA412092692
 26 P>S No ClinGen
TOPMed
rs768257389
CA412092677
 27 T>K No ClinGen
ExAC
TOPMed
gnomAD
CA10299381
rs768257389
 27 T>M No ClinGen
ExAC
TOPMed
gnomAD
rs955396883
CA325460288
 29 E>K No ClinGen
gnomAD
CA412092662
rs1401891338
 30 T>A No ClinGen
TOPMed
gnomAD
CA412092658
rs1331474742
 30 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs1312129862
CA412092654
 31 L>P No ClinGen
TOPMed
gnomAD
CA325460287
rs962200186
 32 T>I No ClinGen
TOPMed
rs1470839521
CA412092643
 33 Y>C No ClinGen
TOPMed
COSM256415
rs778657442
CA10299376
 34 A>T Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
CA10299375
rs757241756
 35 Q>R No ClinGen
ExAC
gnomAD
CA325460262
rs967272410
 36 A>V No ClinGen
gnomAD
CA325460261
VAR_048424
rs11549978
 38 R>G No ClinGen
UniProt
Ensembl
dbSNP
CA412092606
rs1441500918
 39 M>L No ClinGen
gnomAD
TCGA novel 41 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1412565592
CA412092581
 42 I>R No ClinGen
TOPMed
rs144980770
CA10299374
 42 I>V No ClinGen
ESP
ExAC
rs777684239
CA10299373
 43 E>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
TCGA novel 43 E>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs756024590
CA10299372
 46 G>R No ClinGen
ExAC
gnomAD
rs1258057871
CA412092550
 47 R>C No ClinGen
gnomAD
rs1393932504
CA412092494
 52 S>G No ClinGen
Ensembl
CA10299370
rs766772354
 53 I>V No ClinGen
ExAC
gnomAD
CA10299369
rs763056272
 56 P>T No ClinGen
ExAC
gnomAD
rs750525914
CA10299368
 59 I>F No ClinGen
ExAC
gnomAD
CA412092383
rs141958681
 61 L>S No ClinGen
ESP
ExAC
gnomAD
rs141958681
CA10299366
 61 L>W No ClinGen
ESP
ExAC
gnomAD
CA10299365
rs777042149
 65 L>V No ClinGen
ExAC
TOPMed
gnomAD
rs375717807
CA10299364
 66 T>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs79225906
CA325460155
 68 Q>K No ClinGen
Ensembl
CA10299363
rs761097008
 74 N>H No ClinGen
ExAC
gnomAD
TCGA novel 75 S>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10299361
rs771726848
 80 S>N No ClinGen
ExAC
gnomAD
rs372388762
CA10299360
 80 S>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs770392728
CA10299358
 81 E>K No ClinGen
ExAC
gnomAD
rs777919210
CA10299356
 82 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA10299357
rs749229346
 82 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs202064518
CA325460121
 85 V>A No ClinGen
gnomAD
CA10299352
rs758665807
 88 R>K No ClinGen
ExAC
gnomAD
CA10299350
rs765328796
 89 T>A No ClinGen
ExAC
gnomAD
rs761846254
CA10299349
 89 T>N No ClinGen
ExAC
gnomAD
CA325460053
rs1055976978
 91 R>C No ClinGen
TOPMed
CA10299348
rs148133754
 91 R>H No ClinGen
ESP
ExAC
gnomAD
CA10299346
rs760974446
 92 H>D No ClinGen
ExAC
gnomAD
rs775855839
CA412091777
 99 K>N No ClinGen
ExAC
TOPMed
gnomAD
rs759199378
CA10299342
 101 N>T No ClinGen
ExAC
CA10299341
rs144749622
 102 E>K No ClinGen
ESP
ExAC
gnomAD
rs548648880
CA10299339
 104 L>F No ClinGen
1000Genomes
ExAC
gnomAD
rs1370225004
CA412091681
 105 P>L No ClinGen
gnomAD
CA412091685
rs1439518084
 105 P>S No ClinGen
TOPMed
TCGA novel 105 P>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA412091670
rs566122784
 106 S>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs34755679
CA10299337
RCV000952795
 106 S>T No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA412091664
rs1196294456
 107 A>T No ClinGen
TOPMed
gnomAD
rs781162854
CA10299334
 109 G>D No ClinGen
ExAC
TOPMed
gnomAD
CA412091640
rs1208536923
 109 G>S No ClinGen
TOPMed
gnomAD
rs781162854
CA412091634
 109 G>V No ClinGen
ExAC
TOPMed
gnomAD
rs754769540
CA10299333
 110 T>M Variant assessed as Somatic; 4.644e-05 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA412091617
rs1332357887
 111 P>A No ClinGen
gnomAD
rs779060123
CA10299331
 111 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA412091613
rs779060123
 111 P>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1220217714
CA412091604
 112 A>G No ClinGen
gnomAD
CA10299329
rs141173800
 113 S>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA325460008
rs141173800
 113 S>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA325460007
rs28379648
 114 A>D No ClinGen
Ensembl
CA412091592
rs1384955780
 114 A>P No ClinGen
gnomAD
CA412091569
rs1392806513
 116 A>T No ClinGen
gnomAD
CA10299325
rs753246701
 118 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA10299326
rs756646290
 118 P>S No ClinGen
ExAC
TCGA novel 119 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs942900754
CA325460006
 121 K>R No ClinGen
TOPMed
rs759878430
CA10299323
 122 V>A No ClinGen
ExAC
gnomAD
rs759878430
CA412091499
 122 V>G No ClinGen
ExAC
gnomAD
CA10299322
rs774051969
 123 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs774051969
CA412091488
 123 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA10299321
rs373304041
 124 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1257710758
CA412091464
 125 V>M No ClinGen
TOPMed
rs1209902916
CA412091451
 126 E>G No ClinGen
gnomAD
rs772867548
CA10299319
 128 S>N No ClinGen
ExAC
gnomAD
rs138141016
CA10299318
 130 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 130 P>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1200092377
CA412091412
 130 P>S No ClinGen
TOPMed
gnomAD
CA10299313
rs779139365
 133 P>S No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 134 R>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 137 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA412091353
rs1398249538
 137 P>S No ClinGen
gnomAD
CA412091341
rs1466287598
 138 V>E No ClinGen
gnomAD
rs369676629
CA10299309
 138 V>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs369676629
CA10299310
 138 V>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1171181977
CA412091333
 139 Y>F No ClinGen
gnomAD
CA10299308
rs140333717
 141 K>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1178613169
CA412091295
 143 I>F No ClinGen
TOPMed
gnomAD
rs1178613169
CA412091297
 143 I>V No ClinGen
TOPMed
gnomAD
rs1235772215
CA412091287
 144 E>Q No ClinGen
gnomAD
rs1179983676
CA412091275
 145 K>E No ClinGen
gnomAD
TCGA novel 146 S>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA412091238
rs1346921505
 148 E>D No ClinGen
gnomAD
CA10299302
rs550467789
 148 E>K No ClinGen
1000Genomes
ExAC
gnomAD
rs1235799528
CA412091207
 152 N>D No ClinGen
TOPMed
CA10299301
rs773037925
 152 N>S No ClinGen
ExAC
gnomAD
CA412091187
rs1601754958
 154 V>G No ClinGen
Ensembl
CA412091192
rs1447699484
 154 V>M No ClinGen
gnomAD
TCGA novel 155 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA412091156
rs1485287558
 158 M>I No ClinGen
TOPMed
CA412091117
rs1332503149
 163 Y>C No ClinGen
TOPMed
gnomAD
CA412091090
rs1447870675
 167 E>G No ClinGen
TOPMed
rs776625246
CA10299298
 167 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
TCGA novel 169 V>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA412091069
rs1436656382
 170 N>S Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA10299296
rs746769934
 175 G>S No ClinGen
ExAC
gnomAD
rs1236511390
CA412091007
 176 D>E No ClinGen
gnomAD
rs1470249609
CA412091017
 176 D>H No ClinGen
gnomAD
CA10299293
rs749493364
 178 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA412090967
rs111730431
 180 A>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs111730431
CA10299291
 180 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA412090958
rs1288149543
 181 V>M No ClinGen
gnomAD
CA412090925
rs1355783779
 183 Q>H No ClinGen
gnomAD
rs368417388
CA10299288
 185 M>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1282535091
CA412090909
 185 M>V No ClinGen
gnomAD
CA412090865
rs1324997880
 189 L>V No ClinGen
TOPMed
CA325459835
rs774546418
 190 M>I No ClinGen
Ensembl
rs751909889
CA10299287
 190 M>L No ClinGen
ExAC
gnomAD
rs1398607783
CA412090833
 192 R>C No ClinGen
gnomAD
CA412090816
rs11912787
CA412090815
 193 F>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA412090799
rs1299393773
 195 K>E No ClinGen
gnomAD
rs1400750489
CA412090794
 195 K>R No ClinGen
gnomAD
rs758881963
CA10299285
 197 S>L No ClinGen
ExAC
gnomAD
rs765049296
CA10299283
 198 H>Y No ClinGen
ExAC
TOPMed
gnomAD
CA412090758
rs1262060095
 199 C>R No ClinGen
TOPMed
CA412090744
rs1192652909
 200 E>K No ClinGen
gnomAD
CA412090669
rs1326632234
 206 E>Q No ClinGen
TOPMed
gnomAD
rs1470150221
CA412090653
 207 Q>K No ClinGen
TOPMed
CA412090624
rs1216365619
 209 S>F No ClinGen
TOPMed
gnomAD
CA10299279
rs760500016
 210 L>P No ClinGen
ExAC
gnomAD
CA412090620
rs1450991390
 210 L>V No ClinGen
gnomAD
CA325459760
rs889921038
 216 V>L No ClinGen
Ensembl
CA412090526
rs1299226020
 217 C>W No ClinGen
gnomAD
CA412090506
rs1457566520
 218 C>S No ClinGen
TOPMed
CA412090445
rs1323206684
 221 M>T No ClinGen
gnomAD
CA412090322
rs1406659831
 228 S>G No ClinGen
gnomAD
CA412090297
rs1462879844
 229 N>S No ClinGen
TOPMed
VAR_079184 230 V>L No UniProt
rs370729821
CA10299269
 230 V>M No ClinGen
ESP
ExAC
gnomAD
TCGA novel 235 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1477616581
CA412090179
 236 M>R No ClinGen
TOPMed
gnomAD
rs368482373
CA10299267
 236 M>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs778660416
CA10299266
 239 L>M No ClinGen
ExAC
gnomAD
CA10299264
rs753570026
 241 V>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs763490935
CA10299263
 246 Y>H No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 247 G>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1194928925
CA412089965
 247 G>R No ClinGen
gnomAD
TCGA novel 248 V>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA412089955
rs1320298946
 248 V>M No ClinGen
gnomAD
CA10299260
rs767451520
 251 I>V No ClinGen
ExAC
gnomAD
CA325459654
rs147334124
 254 G>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
NCI-TCGA
TCGA novel 256 W>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA412089786
rs1371047503
 258 C>Y No ClinGen
gnomAD
rs1330124234
CA412089758
 259 R>L No ClinGen
gnomAD
CA412089727
rs1402024172
 261 C>S No ClinGen
gnomAD
rs1251188474
CA412089717
 262 L>Q No ClinGen
TOPMed
CA10299256
rs775794055
 264 S>L No ClinGen
ExAC
TOPMed
gnomAD
CA412089676
rs1474953282
 265 R>L No ClinGen
TOPMed
CA412089679
rs1474953282
 265 R>Q No ClinGen
TOPMed
CA10299254
rs768604176
 265 R>W No ClinGen
ExAC
gnomAD
CA325459641
rs34310668
 267 R>Q No ClinGen
TOPMed
gnomAD
rs745892251
CA10299253
 267 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs1459256231
CA412089652
 268 P>A No ClinGen
gnomAD
CA10299251
rs555085765
 269 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA412089612
rs1353642814
 270 D>E No ClinGen
gnomAD
COSM3424249
rs1281211435
CA412089629
 270 D>N Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
rs779390099
CA10299249
 270 D>V No ClinGen
ExAC
gnomAD
CA412089575
rs1378631843
 274 C>Y No ClinGen
gnomAD
rs17854474
CA325459629
 275 P>H Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
CA412089521
rs1413710890
 278 G>S No ClinGen
TOPMed
CA10299247
rs748880430
 282 K>E No ClinGen
ExAC
gnomAD
CA412089479
rs1356991534
 282 K>R No ClinGen
TOPMed
TCGA novel 283 K>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
COSM1035253
CA10299245
rs755515102
 287 D>N Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA412089424
rs755515102
 287 D>Y No ClinGen
ExAC
gnomAD
CA412089415
rs1156918290
 288 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1025076067
CA325459597
 288 R>L No ClinGen
TOPMed
CA10299242
rs754935740
 293 V>M No ClinGen
ExAC
gnomAD
rs1212053790
CA412089311
 298 I>V No ClinGen
TOPMed
gnomAD
rs764381420
CA10299237
 302 G>S No ClinGen
ExAC
TOPMed
gnomAD
rs1259810378
CA412089261
 303 F>V No ClinGen
TOPMed
rs1486138035
CA412089235
 305 N>S No ClinGen
TOPMed
rs760612468
CA10299236
 306 T>M No ClinGen
ExAC
TOPMed
gnomAD
CA412089196
rs1227335903
 309 I>L No ClinGen
gnomAD
CA325459542
rs28385496
 312 I>L No ClinGen
Ensembl
rs749670674
CA10299230
 320 P>L No ClinGen
ExAC
gnomAD
VAR_048425
rs12157714
CA325459498
 321 A>S No ClinGen
UniProt
Ensembl
dbSNP
CA412089062
rs1164193595
 322 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA325459490
rs780644779
 328 Y>C No ClinGen
ExAC
TOPMed
gnomAD
rs1189073979
CA412088997
 328 Y>D No ClinGen
gnomAD
CA412088992
rs780644779
 328 Y>F No ClinGen
ExAC
TOPMed
gnomAD
rs780644779
CA10299226
 328 Y>S No ClinGen
ExAC
TOPMed
gnomAD
CA10299224
rs751481896
 329 L>F No ClinGen
ExAC
gnomAD
CA10299222
rs372560821
 335 V>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1601752989
CA412088847
 342 H>D No ClinGen
Ensembl
rs764173321
CA10299220
 343 K>R No ClinGen
ExAC
gnomAD
CA10299219
rs201262892
 345 N>S No ClinGen
1000Genomes
ExAC
gnomAD
CA412088773
rs1276098481
 348 T>I No ClinGen
TOPMed
gnomAD
rs1385590325
CA412088758
 350 F>V No ClinGen
gnomAD
CA10299215
rs774935185
 358 A>G No ClinGen
ExAC
gnomAD
TCGA novel 359 G>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs934201928
CA325459413
 366 P>A No ClinGen
Ensembl
rs138870562
CA325459390
 366 P>L No ClinGen
ESP
CA412088480
rs1196313907
 367 V>L No ClinGen
TOPMed
gnomAD
CA412088482
rs1196313907
 367 V>M No ClinGen
TOPMed
gnomAD
rs1429558657
CA412088460
 368 K>R No ClinGen
gnomAD
CA10299212
rs773660738
 370 L>V No ClinGen
ExAC
rs1487242752
CA412088409
 372 G>S No ClinGen
gnomAD
CA10299208
rs768147160
 373 G>C No ClinGen
ExAC
gnomAD
CA412088391
rs768147160
 373 G>S No ClinGen
ExAC
gnomAD
TCGA novel 373 G>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA412088305
rs1326944760
 379 V>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
COSM1035251
CA10299205
rs758383249
 383 A>T Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA10299203
rs778747819
 389 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 391 P>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs767859368
CA10299200
 391 P>S No ClinGen
ExAC
gnomAD
CA412088016
rs1371816964
 395 R>Q No ClinGen
TOPMed
CA10299199
rs759634290
 395 R>W No ClinGen
ExAC
gnomAD
CA412087931
CA412087929
rs1254272998
 402 G>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
TOPMed
gnomAD
NCI-TCGA
CA325459230
rs140730234
 403 D>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA10299195
rs140730234
RCV000881951
 403 D>G No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA10299196
rs140730234
 403 D>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSM1035250
rs762230069
CA10299193
 405 E>K Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA325459195
rs779615439
 409 G>S No ClinGen
Ensembl
rs544881036
CA10299190
 410 V>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA412087799
rs544881036
 410 V>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA412087761
rs749877900
 412 R>L No ClinGen
TOPMed
CA325459180
rs749877900
 412 R>Q No ClinGen
TOPMed
rs1446218654
CA412087734
 414 E>D No ClinGen
gnomAD
rs147595191
CA10299188
RCV000892348
 414 E>G No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA10299186
rs745805180
 416 S>A No ClinGen
ExAC
TOPMed
gnomAD
CA10299185
rs778784084
 416 S>L No ClinGen
ExAC
TOPMed
gnomAD
CA10299187
rs745805180
 416 S>P No ClinGen
ExAC
TOPMed
gnomAD
rs778784084
CA412087703
 416 S>W No ClinGen
ExAC
TOPMed
gnomAD
CA10299183
rs555494003
 418 K>T No ClinGen
1000Genomes
ExAC
gnomAD
rs372984514
CA10299182
 419 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA412087660
rs1396284109
 420 V>I No ClinGen
gnomAD
CA412087642
rs1438596762
 421 R>G No ClinGen
gnomAD
rs766456906
CA10299179
 423 T>I No ClinGen
ExAC
gnomAD
rs1438066998
CA412087583
 424 S>F No ClinGen
gnomAD
rs1198517239
CA412087569
 425 K>N No ClinGen
gnomAD
rs543757298
CA10299176
 426 V>A No ClinGen
ExAC
TOPMed
gnomAD
CA412087557
rs1281023636
 427 R>G No ClinGen
gnomAD
CA412087513
rs1239489891
 429 K>R No ClinGen
gnomAD
rs762105541
CA10299175
 430 A>P No ClinGen
ExAC
TOPMed
gnomAD
rs762105541
CA412087506
 430 A>S No ClinGen
ExAC
TOPMed
gnomAD
CA412087481
rs1416929921
 431 K>R No ClinGen
gnomAD
TCGA novel 433 A>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs777002398
CA10299174
 433 A>S No ClinGen
ExAC
gnomAD
rs1340098658
CA412087437
 434 K>E No ClinGen
gnomAD
CA10299172
rs760299852
 436 A>T No ClinGen
ExAC
gnomAD
rs745376003
CA10299169
 441 C>R No ClinGen
ExAC
gnomAD
rs774288962
CA10299168
 441 C>Y No ClinGen
ExAC
gnomAD
rs749054744
CA10299166
 442 A>T No ClinGen
ExAC
gnomAD
CA10299165
rs201116833
 442 A>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA10299163
RCV000899941
rs747238332
 443 V>I No ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs1259391541
CA412087305
 444 L>R No ClinGen
TOPMed
gnomAD
rs780204227
CA10299162
 445 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA10299159
rs765682058
 447 V>M No ClinGen
ExAC
TOPMed
gnomAD
CA412087232
rs764429512
 449 A>S No ClinGen
ExAC
TOPMed
gnomAD
CA10299156
rs764429512
 449 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs900252032
CA325458980
 450 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs761012561
CA10299155
 451 Y>C No ClinGen
ExAC
gnomAD
CA325458968
rs774966358
 453 P>L No ClinGen
Ensembl
CA412087180
rs1235486782
 453 P>S No ClinGen
gnomAD
rs539096139
CA10299152
 454 P>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs539096139
CA10299153
 454 P>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs539096139
CA412087154
 454 P>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs775142763
CA10299154
 454 P>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA412087142
rs1319714302
 455 Q>R No ClinGen
gnomAD
rs1274807818
CA412081358
 458 N>S No ClinGen
gnomAD
CA412081338
rs1233735199
 459 R>K No ClinGen
gnomAD
rs781392587
CA10299115
 459 R>S No ClinGen
ExAC
gnomAD
rs1293396826
CA412081302
 460 I>F No ClinGen
gnomAD
CA412081282
rs1569120141
 461 A>T No ClinGen
Ensembl
CA10299114
rs755433623
 461 A>V No ClinGen
ExAC
gnomAD
CA10299111
rs146952194
 462 N>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA10299110
rs749974054
 463 Q>R No ClinGen
ExAC
gnomAD
rs893626117
CA325444218
 464 V>M No ClinGen
Ensembl
CA10299109
rs141160146
 466 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs761625739
CA10299108
 468 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA412080925
rs1305487719
 472 F>I No ClinGen
TOPMed
CA412080902
rs1371817746
 473 V>M No ClinGen
TOPMed
gnomAD
TCGA novel 475 R>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10299104
rs774498104
 478 S>C No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 480 W>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs147768233
CA412080478
 488 N>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA10299099
rs781782274
 490 A>G No ClinGen
ExAC
gnomAD
CA10299098
rs781782274
 490 A>V No ClinGen
ExAC
gnomAD
rs779806533
CA10299095
 491 P>H No ClinGen
ExAC
gnomAD
TCGA novel 492 L>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1232261297 492 L>P Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
rs750141970
CA10299093
 495 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA412080308
rs1218432662
 495 R>W No ClinGen
gnomAD
rs34675972
CA10299091
 505 S>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA10299090
rs753651777
 506 S>P No ClinGen
ExAC
gnomAD
rs761754152
CA10299064
 511 N>T No ClinGen
ExAC
gnomAD
CA10299063
rs776805517
 512 D>N No ClinGen
ExAC
rs747497145
CA10299061
 514 E>A No ClinGen
ExAC
TOPMed
gnomAD
rs1399666994
CA412078278
 514 E>K No ClinGen
TOPMed
gnomAD
rs746256847
CA10299057
 515 M>I No ClinGen
ExAC
rs371726240
CA10299058
 515 M>K No ClinGen
ESP
ExAC
gnomAD
CA10299059
rs371726240
 515 M>T No ClinGen
ESP
ExAC
gnomAD
CA412078224
rs1359822350
 517 A>P No ClinGen
TOPMed
gnomAD
CA412078226
rs1359822350
 517 A>T No ClinGen
TOPMed
gnomAD
rs1185537909
CA412078183
 519 K>E No ClinGen
gnomAD
CA325440591
rs925977074
 519 K>T No ClinGen
TOPMed
gnomAD
CA412078147
rs1601673167
 521 K>E No ClinGen
Ensembl
rs770646860
CA10299055
 522 L>V No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 523 K>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10299053
rs777312926
 524 Y>C No ClinGen
ExAC
gnomAD
rs1205877452
CA412078000
 527 R>L No ClinGen
gnomAD
CA10299052
rs754782161
 527 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA412077972
rs1396992724
 529 R>W No ClinGen
gnomAD
CA412077936
rs142998918
 530 H>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
COSM1416937
CA10299050
rs781108454
 531 D>N Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA412077909
rs1336083072
 531 D>V No ClinGen
gnomAD
rs765340546
CA10299047
 534 R>C No ClinGen
ExAC
gnomAD
CA10299046
rs367857228
 534 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA412077817
rs548074999
 535 A>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA10299044
rs548074999
COSM1190485
 535 A>T lung [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
rs1162514973
CA412077805
 535 A>V No ClinGen
gnomAD
rs967491919
CA325440525
COSM580328
 536 R>C lung [Cosmic] No ClinGen
cosmic curated
TOPMed
CA412077727
rs200430329
 539 I>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs774744137
CA10299039
 543 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs771246998
CA10299038
 543 R>H No ClinGen
ExAC
gnomAD
rs777465966
CA10299036
 545 R>W No ClinGen
ExAC
gnomAD
rs370633506
CA10299035
 547 K>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs747675583
CA10299034
 549 K>R No ClinGen
ExAC
gnomAD
rs781061669
CA10299033
 550 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA10299032
rs368291617
 550 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA412077528
rs368291617
 550 R>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs200167898
CA10298997
 553 V>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs560010185
CA10298995
 558 V>A No ClinGen
1000Genomes
ExAC
gnomAD
CA10298992
rs775441478
 559 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA10298991
rs771933968
 559 A>V No ClinGen
ExAC
gnomAD
rs1187762803
CA412077295
 560 M>I No ClinGen
gnomAD
CA412077300
rs1413071361
 560 M>T No ClinGen
gnomAD
rs1402675661
CA412077304
 560 M>V No ClinGen
gnomAD
rs751113899
CA325440167
 561 E>G No ClinGen
gnomAD
CA10298988
rs757174022
 563 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs778827718
CA10298989
 563 R>W No ClinGen
ExAC
gnomAD
CA10298987
rs748373775
 564 L>P No ClinGen
ExAC
gnomAD
CA10298985
COSM580330
rs376208895
 565 T>I lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA10298982
rs758875508
 568 T>M No ClinGen
ExAC
TOPMed
gnomAD
CA412077207
rs1601671022
 569 V>G No ClinGen
Ensembl
rs1361287442
CA412077182
 572 R>C No ClinGen
TOPMed
gnomAD
rs776202177
CA10298978
 572 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs768131704
CA10298977
 576 D>N No ClinGen
ExAC
TOPMed
gnomAD
CA412077059
rs1420511810
 583 P>T No ClinGen
gnomAD
rs759531800
CA10298973
 584 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA412077026
rs1418088589
 586 I>V No ClinGen
TOPMed
gnomAD
CA10298972
rs372950307
 587 F>S No ClinGen
ESP
ExAC
gnomAD
CA10298971
rs201223845
 588 A>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1253786397
CA412076976
 590 P>R No ClinGen
TOPMed
CA10298969
rs781422435
 590 P>S No ClinGen
ExAC
gnomAD
CA10298968
rs768796290
 591 V>M No ClinGen
ExAC
gnomAD
CA412076950
rs1245336746
 592 S>R No ClinGen
TOPMed
gnomAD
rs1379058694
CA412076759
 598 D>G No ClinGen
gnomAD
rs777986378
CA10298941
 600 L>M No ClinGen
ExAC
gnomAD
rs1418244683
CA412076683
 601 D>V No ClinGen
gnomAD
CA325439680
rs866986015
 602 H>Y No ClinGen
Ensembl
CA10298940
rs756567520
 603 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA412076580
rs1483345860
 605 H>R No ClinGen
TOPMed
gnomAD
CA325439674
rs201317994
 607 M>K No ClinGen
gnomAD
CA10298938
rs374620832
 607 M>V No ClinGen
ESP
ExAC
gnomAD
CA10298937
rs759063128
 608 D>N No ClinGen
ExAC
gnomAD
TCGA novel 608 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs751141962
CA10298936
 609 F>L No ClinGen
ExAC
gnomAD
CA412076483
rs1436833731
 610 A>T No ClinGen
TOPMed
CA412076463
rs1175231245
 611 T>A No ClinGen
TOPMed
CA325439648
rs887649608
 612 M>V No ClinGen
Ensembl
rs766030440
CA10298935
 614 K>* No ClinGen
ExAC
gnomAD
rs766030440
CA412076419
 614 K>E No ClinGen
ExAC
gnomAD
rs1569111265
CA412076390
 615 R>Q No ClinGen
Ensembl
rs754872014
CA10298934
 617 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA10298933
rs773261173
 618 A>G No ClinGen
ExAC
gnomAD
CA412076315
rs1393834078
 620 G>E No ClinGen
gnomAD
CA10298931
rs553734468
 620 G>R No ClinGen
1000Genomes
ExAC
gnomAD
CA412076298
rs1172748568
 621 Y>F No ClinGen
gnomAD
rs931711612
CA325439624
 623 N>S No ClinGen
Ensembl
CA10298929
rs772303615
 625 H>R No ClinGen
ExAC
TOPMed
gnomAD
rs1452619553
CA412076232
 625 H>Y No ClinGen
gnomAD
rs774390633
CA10298927
 626 E>K No ClinGen
ExAC
gnomAD
rs749752139
CA10298925
 632 D>G No ClinGen
ExAC
gnomAD
rs771056578
CA10298926
 632 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA412076029
rs1569111109
 636 D>E No ClinGen
Ensembl
TCGA novel 636 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs142842188
CA325439600
 639 M>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA10298924
rs142842188
 639 M>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs756372230
CA10298923
 640 K>R No ClinGen
ExAC
gnomAD
CA412075944
rs780947676
 642 N>K No ClinGen
ExAC
TOPMed
gnomAD
CA412075937
rs1229444541
 643 A>P No ClinGen
gnomAD
CA412075939
rs1229444541
 643 A>T No ClinGen
gnomAD
CA412075929
rs1569111051
 643 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
rs1334728911
CA412075922
 644 R>G No ClinGen
gnomAD
rs751309590
COSM1035239
CA10298919
 647 V>M Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA10298918
rs765976359
 651 A>T No ClinGen
ExAC
gnomAD
rs150825722
CA10298915
 654 R>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs776442812
CA10298913
 655 L>V No ClinGen
ExAC
TOPMed
gnomAD
CA10298912
rs141393875
 656 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 656 R>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 657 D>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1416941438
CA412075748
 657 D>N No ClinGen
TOPMed
gnomAD
CA10298909
rs770848721
 665 Q>H No ClinGen
ExAC
gnomAD
rs148277487
CA412075629
 667 R>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs773539531
CA10298907
 667 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs148277487
CA10298908
 667 R>W No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs770362688
CA10298906
 668 R>C No ClinGen
ExAC
gnomAD
rs1271674831
COSM1184881
CA412075614
 668 R>H large_intestine [Cosmic] No ClinGen
cosmic curated
gnomAD
CA412075606
rs1357760265
 669 E>K No ClinGen
gnomAD
CA10298904
rs781676075
 670 V>A No ClinGen
ExAC
TOPMed
gnomAD
CA412075582
rs781676075
 670 V>G No ClinGen
ExAC
TOPMed
gnomAD
CA412075544
rs1226123687
 672 S>N No ClinGen
gnomAD
TCGA novel 673 I>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA412075520
rs1299311239
 674 G>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA412075457
rs1442622656
 677 E>A No ClinGen
TOPMed
CA10298900
rs757789659
 679 S>L No ClinGen
ExAC
TOPMed
gnomAD
CA412075430
rs757789659
 679 S>W No ClinGen
ExAC
TOPMed
gnomAD
CA412075404
rs1366108127
 681 M>I No ClinGen
gnomAD
rs1391422251
CA412075413
 681 M>L No ClinGen
TOPMed
gnomAD
rs1281657658
CA412075407
 681 M>T No ClinGen
TOPMed
CA412075391
rs1601667668
 682 H>P No ClinGen
Ensembl
rs765046491
CA10298898
 684 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs1287771657
CA412075361
 685 E>Q No ClinGen
TOPMed
rs570130928
CA10298896
 686 R>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA10298897
rs757188736
 686 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA10298894
RCV000890863
rs145415691
COSM1184879
 689 A>V large_intestine [Cosmic] No ClinGen
cosmic curated
ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
TCGA novel 690 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA412075289
rs1452672656
 690 A>V No ClinGen
gnomAD
CA10298893
rs200560894
 691 P>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA412075266
rs200560894
 691 P>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA412075268
rs1272974646
 691 P>S No ClinGen
gnomAD
rs1415005082
CA412075254
 692 R>Q No ClinGen
TOPMed
rs1299198029
CA412075256
 692 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
TCGA novel 693 R>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs773309462
CA10298890
 693 R>Q No ClinGen
ExAC
gnomAD
CA10298891
rs138102264
 693 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA412075224
rs1438391834
 694 P>L No ClinGen
gnomAD
rs1438391834
CA412075226
 694 P>R No ClinGen
gnomAD
rs769811077
CA10298889
 696 S>C No ClinGen
ExAC
TOPMed
gnomAD
rs769811077
CA412075189
 696 S>F No ClinGen
ExAC
TOPMed
gnomAD
rs769811077
CA412075198
 696 S>Y No ClinGen
ExAC
TOPMed
gnomAD
CA412075183
rs1331249528
 697 W>R No ClinGen
TOPMed
rs1328038014
CA412075159
 698 E>Q No ClinGen
gnomAD
rs1213481101
CA412075156
 698 E>V No ClinGen
Ensembl
CA10298888
rs146967250
 699 D>E No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1473852002
CA412074472
 702 R>W No ClinGen
gnomAD
CA412074451
rs1187901287
 705 D>A No ClinGen
gnomAD
rs1187901287
CA412074450
 705 D>G No ClinGen
gnomAD
rs745528936
CA10298865
 707 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA412074431
rs1211714638
 708 N>S No ClinGen
gnomAD
CA412074425
rs1157389834
 709 R>K No ClinGen
gnomAD
CA10298864
rs778432497
 712 L>V No ClinGen
ExAC
gnomAD
CA10298862
rs748818284
 714 L>P No ClinGen
ExAC
gnomAD
TCGA novel 716 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1331096932
CA412074375
 717 Q>E No ClinGen
gnomAD
CA325427141
rs758348075
 717 Q>P No ClinGen
Ensembl
CA10298860
rs752678312
 724 M>L No ClinGen
ExAC
gnomAD
CA412074328
rs1304669044
 724 M>T No ClinGen
gnomAD
CA10298859
rs752678312
 724 M>V No ClinGen
ExAC
gnomAD
CA325427121
rs75809575
 726 D>G No ClinGen
Ensembl
CA412074317
rs1344893168
 726 D>H No ClinGen
gnomAD
CA412074311
rs754800090
 727 L>I No ClinGen
ExAC
gnomAD
CA10298857
rs754800090
 727 L>V No ClinGen
ExAC
gnomAD
rs1601655340
CA412074306
 728 T>P No ClinGen
Ensembl
VAR_048426
CA10298855
rs35331092
 730 A>T No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA412074287
rs1164758302
 731 M>V No ClinGen
gnomAD
rs753324435
CA325427110
 733 S>P No ClinGen
gnomAD
CA10298852
rs764309578
 735 G>C No ClinGen
ExAC
TOPMed
gnomAD
rs764309578
CA10298853
 735 G>S No ClinGen
ExAC
TOPMed
gnomAD
rs775920438
CA10298849
 737 R>L No ClinGen
ExAC
gnomAD
CA10298850
rs775920438
COSM1184890
 737 R>Q Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
COSM1035235
CA325427093
rs540561914
 737 R>W Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
rs945216800
CA325427080
 740 R>W No ClinGen
TOPMed
gnomAD
rs767855543
CA10298848
 741 A>S No ClinGen
ExAC
gnomAD
rs1470807304
CA412074216
 742 K>M No ClinGen
TOPMed
CA10298846
rs774006938
 743 L>P No ClinGen
ExAC
gnomAD
TCGA novel 746 K>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1314926875
CA412074180
 747 E>D No ClinGen
gnomAD
TCGA novel 747 E>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10298844
rs200383896
 750 L>F No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA412074152
rs1364582556
 752 R>Q No ClinGen
gnomAD
CA412074127
rs1389753849
 756 S>G No ClinGen
gnomAD
rs748114916
CA10298841
 759 H>P No ClinGen
ExAC
gnomAD
CA412074096
rs1326433014
 760 S>G No ClinGen
TOPMed
CA325427037
rs1033311540
 761 Q>R No ClinGen
Ensembl
CA10298840
rs150089772
 762 P>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA10298838
rs746805698
 764 P>H No ClinGen
ExAC
gnomAD
rs746805698
CA10298839
 764 P>R No ClinGen
ExAC
gnomAD
CA412074070
rs1166250552
 764 P>T No ClinGen
gnomAD
CA10298836
rs201943691
 765 T>M No ClinGen
ExAC
TOPMed
gnomAD
CA10298835
rs754164780
 766 G>R No ClinGen
ExAC
gnomAD
rs1283709160
CA412074054
 767 P>L No ClinGen
gnomAD
CA10298834
rs764258071
 767 P>T No ClinGen
ExAC
gnomAD
rs1267097952
CA412074050
 768 G>A No ClinGen
gnomAD
CA10298833
rs756264961
 768 G>C No ClinGen
ExAC
gnomAD
CA325427002
rs759472507
 769 L>S No ClinGen
Ensembl
rs1349146240
CA412074039
 770 E>A No ClinGen
TOPMed
rs753188812
CA412074031
 771 G>A No ClinGen
ExAC
TOPMed
gnomAD
rs753188812
CA10298832
 771 G>D No ClinGen
ExAC
TOPMed
gnomAD
rs368460918
CA325426986
 773 E>Q No ClinGen
ESP
TOPMed
gnomAD
CA412074007
rs774544377
 774 E>D No ClinGen
ExAC
gnomAD
rs1271269760
CA412074014
 774 E>K No ClinGen
TOPMed
rs374171133
CA10298828
 775 D>V No ClinGen
ESP
ExAC
gnomAD
rs78921765
RCV000962774
CA10298825
CA10298826
 776 G>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinVar
dbSNP
CA412073993
rs1363076670
 777 A>S No ClinGen
TOPMed
rs200883151
CA10298824
 778 A>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1429690905
CA412073984
 779 L>M No ClinGen
TOPMed
gnomAD
rs776586167
CA10298823
 779 L>Q No ClinGen
ExAC
gnomAD
rs1166249641
CA412073980
 780 G>R No ClinGen
gnomAD
TCGA novel 780 G>W Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10298822
rs768510528
 781 P>L No ClinGen
ExAC
gnomAD
rs1197866951
CA412073968
 782 E>Q No ClinGen
gnomAD
rs552179265
CA10298820
 783 A>S No ClinGen
1000Genomes
ExAC
gnomAD
CA10298819
COSM3694130
rs758328445
 783 A>V large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs1306731710
CA412073944
 785 E>D No ClinGen
TOPMed
rs1207444613
CA412073950
 785 E>K No ClinGen
gnomAD
rs1334281996
CA412073940
 786 E>G No ClinGen
TOPMed
CA10298816
rs756168966
 786 E>Q No ClinGen
ExAC
gnomAD
CA412072562
rs1409939562
 787 V>G No ClinGen
TOPMed
rs1481760755
CA412072550
 788 L>P No ClinGen
gnomAD
CA412072484
rs1204767479
 793 T>I No ClinGen
gnomAD
CA412072480
rs1441542243
 794 L>V No ClinGen
gnomAD
CA10298771
rs746423037
 797 P>T No ClinGen
ExAC
gnomAD
rs757708315
CA10298770
 798 R>K No ClinGen
ExAC
TOPMed
gnomAD
rs757708315
CA10298769
 798 R>T No ClinGen
ExAC
TOPMed
gnomAD
CA412072427
rs1324038474
 799 K>E No ClinGen
gnomAD
rs1336154041
CA412072421
 799 K>R No ClinGen
TOPMed
rs753366539
CA10298768
 801 S>L No ClinGen
ExAC
gnomAD
rs755643978
CA10298766
 802 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs140147452
CA10298765
 802 R>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
COSM1184887
rs140147452
CA10298764
 802 R>Q Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs755643978
COSM1416935
CA412072003
 802 R>W large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA10298762
rs774493554
 804 T>I No ClinGen
ExAC
gnomAD
rs766018593
CA412071981
 805 C>W No ClinGen
ExAC
TOPMed
gnomAD
rs762816988
CA10298760
 806 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs1157518201
CA412071975
 807 D>N No ClinGen
gnomAD
rs776671318
CA10298759
 808 S>P No ClinGen
ExAC
gnomAD
CA10298758
COSM1660794
rs768957303
 809 E>K kidney [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA10298757
rs747274946
 809 E>V No ClinGen
ExAC
gnomAD
CA325422810
rs749216386
 811 E>V No ClinGen
Ensembl
COSM1035227
rs199908884
CA10298756
 813 E>* Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA10298755
rs373741149
 813 E>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs985153140
CA325422805
 813 E>D No ClinGen
TOPMed
CA325422802
rs953805860
 814 S>P Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA10298754
rs746371515
 815 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA10298752
rs542496993
 816 G>E No ClinGen
1000Genomes
ExAC
gnomAD
rs139630692
CA10298751
 818 R>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA10298750
rs756703870
 818 R>H No ClinGen
ExAC
gnomAD
CA412071904
rs756703870
 818 R>L No ClinGen
ExAC
gnomAD
CA412071890
rs1453676903
 821 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA412071885
rs1601632681
 821 A>V No ClinGen
Ensembl
rs761604287
CA10298722
 822 G>D No ClinGen
ExAC
gnomAD
CA412071371
rs1341579792
 824 T>A No ClinGen
gnomAD
CA412071365
rs1229902563
 825 N>D No ClinGen
gnomAD
rs759714985
CA10298719
 826 G>R No ClinGen
ExAC
TOPMed
gnomAD
CA10298718
rs774464485
 828 G>R No ClinGen
ExAC
gnomAD
CA412071338
rs1347988468
 829 G>C No ClinGen
gnomAD
rs933085584
CA325413242
 829 G>D No ClinGen
TOPMed
rs1347988468
CA412071340
 829 G>S No ClinGen
gnomAD
CA412071333
rs770971061
 830 A>E No ClinGen
ExAC
TOPMed
gnomAD
CA325413238
rs901500399
 830 A>S No ClinGen
TOPMed
gnomAD
CA412071334
rs901500399
 830 A>T No ClinGen
TOPMed
gnomAD
CA10298717
rs770971061
 830 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs1296035544
CA412071325
 831 R>S No ClinGen
gnomAD
rs770224322
CA10298714
 833 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs748543631
CA10298713
 834 Q>K No ClinGen
ExAC
gnomAD
rs1341935372
CA412071307
 834 Q>P No ClinGen
TOPMed
rs780949696
CA10298712
 836 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA412071291
rs780949696
 836 P>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1249717764
CA412071287
 837 G>C No ClinGen
TOPMed
gnomAD
CA412071289
rs1249717764
 837 G>S No ClinGen
TOPMed
gnomAD
CA412071282
rs149357003
 838 G>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA10298707
rs149357003
 838 G>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs139682438
CA325413195
 839 G>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
NCI-TCGA
gnomAD
CA10298706
rs778838604
 841 G>E No ClinGen
ExAC
gnomAD
CA10298705
rs756999647
 843 K>E No ClinGen
ExAC
gnomAD
CA412071253
rs1228335605
 843 K>R No ClinGen
gnomAD
CA412071248
rs753597177
 844 A>P No ClinGen
ExAC
TOPMed
gnomAD
CA10298704
rs753597177
 844 A>S No ClinGen
ExAC
TOPMed
gnomAD
CA325413163
rs932142575
 845 T>P No ClinGen
TOPMed
gnomAD
CA10298702
rs759787506
 846 P>L No ClinGen
ExAC
gnomAD
rs922209304
CA325413150
 847 R>* No ClinGen
TOPMed
CA325413138
rs375422499
 847 R>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
COSM1035225
CA10298700
rs375422499
 847 R>Q Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA10298698
rs372097126
 848 R>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs372097126
CA10298699
 848 R>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs925602300
CA325413130
 849 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs567478434
CA10298697
 849 R>H No ClinGen
1000Genomes
ExAC
gnomAD
rs1170364861
CA412071225
 850 C>S No ClinGen
TOPMed
CA10298696
rs762451955
 851 A>S No ClinGen
ExAC
gnomAD
rs1255685552
CA412071204
 853 E>K No ClinGen
gnomAD
CA10298692
rs775014300
 855 S>G No ClinGen
ExAC
gnomAD
CA325413094
rs761588766
 855 S>T No ClinGen
gnomAD
TCGA novel 857 S>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA412071164
rs745394429
 859 S>N No ClinGen
ExAC
TOPMed
gnomAD
CA10298690
rs745394429
 859 S>T No ClinGen
ExAC
TOPMed
gnomAD
CA412071160
rs1258414224
 860 N>D No ClinGen
gnomAD
rs778785290
CA10298689
 860 N>S No ClinGen
ExAC
TOPMed
gnomAD
rs555676520
CA325413077
 861 S>G No ClinGen
Ensembl
CA10298688
rs757161185
 861 S>N No ClinGen
ExAC
gnomAD
CA10298687
rs749277542
 862 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA325413065
rs749277542
 862 P>Q No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 865 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1204804480
CA412071127
 865 D>Y No ClinGen
TOPMed
rs755861979
CA10298685
 866 S>L No ClinGen
ExAC
gnomAD
rs936978360
CA325412466
 869 N>S No ClinGen
TOPMed
COSM1416933
rs764535212
CA10298655
 870 A>V Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs1037397001
CA325412449
 871 P>S No ClinGen
TOPMed
gnomAD
rs752975881
CA10298653
 872 K>R No ClinGen
ExAC
gnomAD
rs542842150
CA10298652
 873 C>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA412071063
rs1477976359
 873 C>Y No ClinGen
gnomAD
CA10298651
rs759181892
 874 G>R No ClinGen
ExAC
TOPMed
gnomAD
CA10298650
rs773993738
 875 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs941898991
CA325412433
COSM1416931
 875 R>W Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
TCGA novel 876 G>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 879 A>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1379525419
CA412071022
 880 L>F No ClinGen
gnomAD
CA412071019
rs1569082127
 880 L>H No ClinGen
Ensembl
CA412071018
rs1569082116
 881 V>M No ClinGen
Ensembl
CA412071012
rs1268991218
 882 R>* No ClinGen
gnomAD
CA10298648
rs762473117
 882 R>P No ClinGen
ExAC
gnomAD
rs762473117
CA10298649
COSM1035223
 882 R>Q Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs572576752
CA10298645
 883 R>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA10298646
rs769586081
 883 R>W No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel
CA325412395
rs933255083
 884 H>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
ClinGen
TOPMed
gnomAD
CA412071004
rs1196204797
 884 H>Y No ClinGen
gnomAD
rs780837839
CA325412392
 885 T>K No ClinGen
ExAC
TOPMed
gnomAD
CA10298644
COSM190251
rs780837839
 885 T>M Variant assessed as Somatic; 0.0 impact. large_intestine prostate [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs768641443
CA10298643
 887 E>G No ClinGen
ExAC
gnomAD
rs779291883
CA10298641
 889 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA10298642
rs779291883
 889 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA10298640
rs757367533
 889 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs779291883
CA412070975
 889 R>S No ClinGen
ExAC
TOPMed
gnomAD
CA412070941
rs865872122
 894 S>C No ClinGen
TOPMed
gnomAD
rs865872122
CA325412364
 894 S>F No ClinGen
TOPMed
gnomAD
CA412070926
rs375440173
 896 I>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA10298636
rs756562359
 896 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA10298634
rs767704331
 897 E>A No ClinGen
ExAC
gnomAD
rs1429372853
CA412070925
 897 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs759903439
CA10298633
 899 G>V No ClinGen
ExAC
gnomAD
CA412070889
rs1460663962
 902 A>T No ClinGen
gnomAD
TCGA novel 902 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10298630
rs563026361
 904 A>V Variant assessed as Somatic; 4.627e-05 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs769405191
CA10298628
 905 A>D No ClinGen
ExAC
gnomAD
rs369960913
CA10298626
 908 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs768514768
CA10298625
 908 A>V No ClinGen
ExAC
gnomAD
CA412070821
rs1489886084
 911 V>I No ClinGen
gnomAD
CA325410931
rs375338194
 912 G>A No ClinGen
TOPMed
CA325410938
rs375338194
 912 G>D No ClinGen
TOPMed
CA10298584
rs147405126
 912 G>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1307273596
CA412070808
 913 Q>R No ClinGen
gnomAD
CA412070803
rs1385970417
 914 S>G No ClinGen
TOPMed
rs912786524
CA325410925
 914 S>R No ClinGen
TOPMed
gnomAD
CA412070796
rs1293969111
 915 S>G No ClinGen
gnomAD
rs1216803896
CA412070794
 915 S>N No ClinGen
gnomAD
CA10298583
rs775569396
 916 M>L No ClinGen
ExAC
gnomAD
rs775569396
CA412070789
 916 M>V No ClinGen
ExAC
gnomAD
TCGA novel 917 W>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs372292607
CA325410921
 919 S>C No ClinGen
ESP
gnomAD
CA325410913
rs1041199045
 920 T>A No ClinGen
TOPMed
rs544333332
CA412070757
 920 T>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs544333332
CA10298582
 920 T>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA10298579
rs770025608
 923 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs540212211
CA10298577
 924 A>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA412070734
rs1430214299
 924 A>V No ClinGen
gnomAD
CA10298575
rs148224073
 925 S>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 933 V>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 935 A>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1480454974
CA412070668
 935 A>T No ClinGen
gnomAD
CA412070655
rs1249955467
 936 K>N No ClinGen
gnomAD
CA412070643
rs1207008557
 938 S>N No ClinGen
gnomAD
rs779189233
CA10298571
 939 G>S No ClinGen
ExAC
gnomAD
CA10298570
rs756916253
 940 Y>* No ClinGen
ExAC
gnomAD
rs558007967
CA10298569
 941 P>L No ClinGen
1000Genomes
ExAC
gnomAD
CA412070626
rs1343081712
 941 P>T No ClinGen
gnomAD
rs1296112579
CA412070604
 944 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1244341080
CA412070597
 945 A>G No ClinGen
TOPMed
COSM1416929
rs750190219
CA10298524
 949 D>N Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs765068401
CA10298523
 951 K>E No ClinGen
ExAC
gnomAD
rs765068401
CA412070551
 951 K>Q No ClinGen
ExAC
gnomAD
rs756317589
CA10298522
 954 R>C Variant assessed as Somatic; 4.656e-05 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1193081900
CA412070527
 954 R>H No ClinGen
TOPMed
gnomAD
CA412070525
rs1193081900
 954 R>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs769548727
CA325409809
 957 G>D No ClinGen
Ensembl
CA412070504
rs1452509776
 958 H>R No ClinGen
TOPMed
rs752933074
CA10298521
 958 H>Y No ClinGen
ExAC
gnomAD
rs1362080765
CA412070492
 960 N>H No ClinGen
TOPMed
rs1400162812
CA412070488
 960 N>S No ClinGen
TOPMed
rs774876975
CA10298518
 961 G>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA325409726
rs562289968
COSM190250
 962 V>I Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs1226561826
CA412070473
 963 T>A No ClinGen
gnomAD
CA10298516
rs551228271
 964 I>M No ClinGen
1000Genomes
ExAC
gnomAD
rs773696652
CA10298515
 965 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA412070455
rs1268813544
 966 A>S No ClinGen
Ensembl
TCGA novel 966 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA412070443
rs1301459361
 968 P>S No ClinGen
gnomAD
CA412070436
rs1167752483
 969 L>P No ClinGen
gnomAD
CA412070428
rs747768983
 970 D>E No ClinGen
ExAC
gnomAD
rs199930732
CA10298511
CA325409679
 973 K>N No ClinGen
1000Genomes
ExAC
gnomAD
CA10298510
rs540795646
 974 I>T No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 976 E>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs779657585
CA10298509
 976 E>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1219794438
CA412070388
 977 H>Y No ClinGen
gnomAD
rs758311612
CA10298508
 978 M>V No ClinGen
ExAC
gnomAD
rs918471936
CA325409658
 982 S>C No ClinGen
TOPMed
gnomAD
CA412070349
rs918471936
 982 S>F No ClinGen
TOPMed
gnomAD
CA10298506
rs375027256
 983 D>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA10298505
rs375027256
 983 D>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1430415039
CA412070341
 984 E>K No ClinGen
Ensembl
CA10298504
rs372808128
 987 F>L No ClinGen
ESP
ExAC
gnomAD
CA325409631
rs919818693
 987 F>L No ClinGen
Ensembl
rs755266167
CA10298502
 989 V>I No ClinGen
ExAC
gnomAD
rs1331852510
CA412070290
 991 F>L No ClinGen
gnomAD
rs1408510598
CA412070259
 995 K>N No ClinGen
gnomAD
CA325408193
rs921009507
 998 W>C No ClinGen
TOPMed
CA10298466
rs777424711
 1000 W>* No ClinGen
ExAC
gnomAD
rs1373091693
CA412070196
 1002 P>R No ClinGen
TOPMed
CA10298465
rs769633985
 1002 P>S No ClinGen
ExAC
gnomAD
rs780444818
CA10298464
 1003 K>R No ClinGen
ExAC
gnomAD
rs780444818
CA10298463
 1003 K>T No ClinGen
ExAC
gnomAD
CA10298462
rs758513196
 1004 S>F No ClinGen
ExAC
gnomAD
rs148395616
CA325408149
 1006 M>V No ClinGen
1000Genomes
CA412070164
rs1383218392
 1007 V>A No ClinGen
TOPMed
gnomAD
rs1443725602
CA412070167
 1007 V>F No ClinGen
gnomAD
rs1307819741
CA412070161
 1008 P>A No ClinGen
TOPMed
CA412070157
rs1183522127
 1008 P>L No ClinGen
gnomAD
rs1569077712
CA412070143
 1011 I>V No ClinGen
Ensembl
rs146624359
CA325408103
 1013 E>G No ClinGen
ESP
rs1046139158
CA325408110
COSM190249
 1013 E>K large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
CA325408088
rs769189277
 1015 I>L No ClinGen
ExAC
TOPMed
gnomAD
CA10298457
rs769189277
 1015 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs1208414573
CA412070095
 1018 L>V No ClinGen
TOPMed
TCGA novel 1019 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA412070073
rs1357724182
 1020 M>I No ClinGen
gnomAD
rs761118359
CA10298456
 1028 I>V No ClinGen
ExAC
gnomAD
CA412070011
rs1229358877
 1029 R>P No ClinGen
gnomAD
TCGA novel 1031 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs201232527
CA325408078
 1033 R>Q No ClinGen
1000Genomes
gnomAD
rs1178131646
CA412069988
 1033 R>W No ClinGen
TOPMed
CA412069976
rs1420924932
 1035 A>S No ClinGen
TOPMed
TCGA novel 1035 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA412069961
rs1298421350
 1037 D>A No ClinGen
gnomAD
rs1298421350
CA412069959
 1037 D>V No ClinGen
gnomAD
CA412069954
COSM1471488
rs1219696200
 1038 R>C prostate [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
CA412069956
rs1219696200
 1038 R>G No ClinGen
TOPMed
gnomAD
CA10298453
rs759231162
 1038 R>H No ClinGen
ExAC
CA412069945
rs770538455
 1040 M>L No ClinGen
ExAC
TOPMed
gnomAD
rs762730991
CA10298450
 1040 M>R No ClinGen
ExAC
gnomAD
rs770538455
CA10298451
 1040 M>V No ClinGen
ExAC
TOPMed
gnomAD
CA325408057
rs941687537
 1041 N>D No ClinGen
TOPMed
CA412069935
rs1429344015
 1041 N>S No ClinGen
gnomAD
CA412069936
rs1429344015
 1041 N>T No ClinGen
gnomAD
rs1601589492
CA412069928
 1042 H>P No ClinGen
Ensembl
rs773212689
CA10298449
 1045 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1184710013
CA412069907
 1045 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs773212689
CA412069910
 1045 R>S No ClinGen
ExAC
TOPMed
gnomAD
rs1461850504
CA412069901
 1046 V>A No ClinGen
TOPMed
CA412069905
rs1264068612
 1046 V>I No ClinGen
TOPMed
gnomAD
CA10298446
rs776609180
 1048 G>A No ClinGen
ExAC
TOPMed
gnomAD
CA325408023
rs776609180
 1048 G>E No ClinGen
ExAC
TOPMed
gnomAD
rs1489931543
CA412069891
 1048 G>R No ClinGen
TOPMed
gnomAD
rs746153327
CA10298444
 1050 P>A No ClinGen
ExAC
gnomAD
CA10298443
rs778855653
 1050 P>L No ClinGen
ExAC
gnomAD
CA412069870
rs1341834739
 1051 T>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs142330712
CA325408004
 1052 S>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA10298439
rs756398444
 1053 D>N No ClinGen
ExAC
gnomAD
rs1421324794
CA412069853
 1054 L>V No ClinGen
gnomAD
CA412069841
rs1458160451
 1056 D>N No ClinGen
gnomAD
rs1185886294
CA412069832
 1057 I>V No ClinGen
gnomAD

No associated diseases with O95696

11 regional properties for O95696

Type Name Position InterPro Accession
domain PWWP domain 927 - 1036 IPR000313
domain Bromodomain 560 - 668 IPR001487
domain Zinc finger, PHD-type 216 - 262 IPR001965-1
domain Zinc finger, PHD-type 326 - 389 IPR001965-2
conserved_site Bromodomain, conserved site 584 - 641 IPR018359
domain Enhancer of polycomb-like, N-terminal 47 - 196 IPR019542
conserved_site Zinc finger, PHD-type, conserved site 217 - 261 IPR019786
domain Zinc finger, PHD-finger 214 - 264 IPR019787
domain Extended PHD (ePHD) domain 268 - 389 IPR034732
domain BRPF2, ePHD domain 271 - 388 IPR042004
domain BRPF2, PHD domain 214 - 267 IPR042009

Functions

Description
EC Number
Subcellular Localization
  • Nucleus
  • Chromosome
  • Localizes to transcription start sites
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

7 GO annotations of cellular component

Name Definition
chromosome A structure composed of a very long molecule of DNA and associated proteins (e.g. histones) that carries hereditary information.
dendrite A neuron projection that has a short, tapering, morphology. Dendrites receive and integrate signals from other neurons or from sensory stimuli, and conduct nerve impulses towards the axon or the cell body. In most neurons, the impulse is conveyed from dendrites to axon via the cell body, but in some types of unipolar neuron, the impulse does not travel via the cell body.
histone H3-K14 acetyltransferase complex A protein complex that can catalyze the acetylation of lysine at position 14 in histone H3.
MOZ/MORF histone acetyltransferase complex A histone acetyltransferase complex that has histone H3 acetyltransferase and coactivator activities. Subunits of the human complex include MYST3/MOZ, MYST4/MORF, ING5, EAF6 and one of BRPF1, BRD1/BRPF2 and BRPF3.
nuclear speck A discrete extra-nucleolar subnuclear domain, 20-50 in number, in which splicing factors are seen to be localized by immunofluorescence microscopy.
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.
perikaryon The portion of the cell soma (neuronal cell body) that excludes the nucleus.

2 GO annotations of molecular function

Name Definition
histone binding Binding to a histone, any of a group of water-soluble proteins found in association with the DNA of eukaryotic or archaeal chromosomes. They are involved in the condensation and coiling of chromosomes during cell division and have also been implicated in gene regulation and DNA replication. They may be chemically modified (methylated, acetlyated and others) to regulate gene transcription.
metal ion binding Binding to a metal ion.

10 GO annotations of biological process

Name Definition
chromatin organization The assembly or remodeling of chromatin composed of DNA complexed with histones, other associated proteins, and sometimes RNA.
erythrocyte maturation A developmental process, independent of morphogenetic (shape) change, that is required for an erythrocyte to attain its fully functional state.
histone H3 acetylation The modification of histone H3 by the addition of an acetyl group.
histone H3-K14 acetylation The modification of histone H3 by the addition of an acetyl group to a lysine residue at position 14 of the histone.
positive regulation of erythrocyte differentiation Any process that activates or increases the frequency, rate or extent of erythrocyte differentiation.
regulation of developmental process Any process that modulates the frequency, rate or extent of development, the biological process whose specific outcome is the progression of a multicellular organism over time from an initial condition (e.g. a zygote, or a young adult) to a later condition (e.g. a multicellular animal or an aged adult).
regulation of hemopoiesis Any process that modulates the frequency, rate or extent of hemopoiesis.
regulation of transcription by RNA polymerase II Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II.
response to electrical stimulus 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 an electrical stimulus.
response to immobilization stress 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 being rendered immobile.

2 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q12311 NTO1 NuA3 HAT complex component NTO1 Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) PR
Q92613 JADE3 Protein Jade-3 Homo sapiens (Human) PR
10 20 30 40 50 60
MRRKGRCHRG SAARHPSSPC SVKHSPTRET LTYAQAQRMV EIEIEGRLHR ISIFDPLEII
70 80 90 100 110 120
LEDDLTAQEM SECNSNKENS ERPPVCLRTK RHKNNRVKKK NEALPSAHGT PASASALPEP
130 140 150 160 170 180
KVRIVEYSPP SAPRRPPVYY KFIEKSAEEL DNEVEYDMDE EDYAWLEIVN EKRKGDCVPA
190 200 210 220 230 240
VSQSMFEFLM DRFEKESHCE NQKQGEQQSL IDEDAVCCIC MDGECQNSNV ILFCDMCNLA
250 260 270 280 290 300
VHQECYGVPY IPEGQWLCRH CLQSRARPAD CVLCPNKGGA FKKTDDDRWG HVVCALWIPE
310 320 330 340 350 360
VGFANTVFIE PIDGVRNIPP ARWKLTCYLC KQKGVGACIQ CHKANCYTAF HVTCAQKAGL
370 380 390 400 410 420
YMKMEPVKEL TGGGTTFSVR KTAYCDVHTP PGCTRRPLNI YGDVEMKNGV CRKESSVKTV
430 440 450 460 470 480
RSTSKVRKKA KKAKKALAEP CAVLPTVCAP YIPPQRLNRI ANQVAIQRKK QFVERAHSYW
490 500 510 520 530 540
LLKRLSRNGA PLLRRLQSSL QSQRSSQQRE NDEEMKAAKE KLKYWQRLRH DLERARLLIE
550 560 570 580 590 600
LLRKREKLKR EQVKVEQVAM ELRLTPLTVL LRSVLDQLQD KDPARIFAQP VSLKEVPDYL
610 620 630 640 650 660
DHIKHPMDFA TMRKRLEAQG YKNLHEFEED FDLIIDNCMK YNARDTVFYR AAVRLRDQGG
670 680 690 700 710 720
VVLRQARREV DSIGLEEASG MHLPERPAAA PRRPFSWEDV DRLLDPANRA HLGLEEQLRE
730 740 750 760 770 780
LLDMLDLTCA MKSSGSRSKR AKLLKKEIAL LRNKLSQQHS QPLPTGPGLE GFEEDGAALG
790 800 810 820 830 840
PEAGEEVLPR LETLLQPRKR SRSTCGDSEV EEESPGKRLD AGLTNGFGGA RSEQEPGGGL
850 860 870 880 890 900
GRKATPRRRC ASESSISSSN SPLCDSSFNA PKCGRGKPAL VRRHTLEDRS ELISCIENGN
910 920 930 940 950 960
YAKAARIAAE VGQSSMWIST DAAASVLEPL KVVWAKCSGY PSYPALIIDP KMPRVPGHHN
970 980 990 1000 1010 1020
GVTIPAPPLD VLKIGEHMQT KSDEKLFLVL FFDNKRSWQW LPKSKMVPLG IDETIDKLKM
1030 1040 1050
MEGRNSSIRK AVRIAFDRAM NHLSRVHGEP TSDLSDID