Q9P2P1
Gene name |
NYNRIN (CGIN1, KIAA1305) |
Protein name |
Protein NYNRIN |
Names |
NYN domain and retroviral integrase catalytic domain-containing protein, Protein cousin of GIN1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:57523 |
EC number |
|
Protein Class |
|

Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure

Activated structure

1 structures for Q9P2P1
Entry ID | Method | Resolution | Chain | Position | Source |
---|---|---|---|---|---|
AF-Q9P2P1-F1 | Predicted | AlphaFoldDB |
1531 variants for Q9P2P1
Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
---|---|---|---|---|---|
rs1357325762 CA389247565 |
2 | L>F | No |
ClinGen TOPMed gnomAD |
|
CA7136513 rs749407541 |
3 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
CA389247627 rs1477235934 |
4 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
rs1445582766 CA389247608 |
4 | S>P | No |
ClinGen TOPMed gnomAD |
|
CA389247640 rs1326098472 |
5 | G>W | No |
ClinGen gnomAD |
|
rs770905855 CA389247667 |
6 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
CA7136514 rs770905855 |
6 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1438169552 CA389247769 |
9 | P>S | No |
ClinGen gnomAD |
|
rs1363333113 CA389247789 |
10 | A>T | No |
ClinGen gnomAD |
|
rs567805123 CA257920310 |
14 | F>C | No |
ClinGen Ensembl |
|
CA389248059 rs1216785969 |
15 | M>T | No |
ClinGen gnomAD |
|
rs1271364704 CA389248078 |
16 | V>M | No |
ClinGen gnomAD |
|
CA389248142 rs1214690970 |
18 | T>A | No |
ClinGen gnomAD |
|
TCGA novel | 20 | S>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs551164226 CA7136517 |
22 | P>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs551164226 CA7136518 |
22 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs765022922 CA7136520 |
24 | V>M | No |
ClinGen ExAC gnomAD |
|
rs750094778 CA7136522 |
25 | Q>H | No |
ClinGen ExAC gnomAD |
|
CA257920351 rs1045933777 |
27 | Q>R | No |
ClinGen Ensembl |
|
rs1594735656 CA389248443 |
28 | R>G | No |
ClinGen Ensembl |
|
rs781624995 CA7136526 |
33 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA257920365 rs781624995 |
33 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
CA389248637 rs1396281754 |
35 | F>V | No |
ClinGen gnomAD |
|
CA7136528 rs756436033 |
37 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1001630854 CA257920386 |
39 | L>Q | No |
ClinGen Ensembl |
|
TCGA novel | 40 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA7136531 rs771121136 |
42 | F>L | No |
ClinGen ExAC gnomAD |
|
CA7136532 rs778894536 |
42 | F>Y | No |
ClinGen ExAC gnomAD |
|
rs768526460 CA7136534 |
45 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA389248930 rs1332985865 |
46 | P>R | No |
ClinGen gnomAD |
|
rs748024470 CA7136536 |
48 | T>N | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 48 | T>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA7136537 rs769696897 |
49 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA389249030 rs1302811731 |
50 | Y>F | No |
ClinGen TOPMed gnomAD |
|
CA7136539 rs762516672 |
50 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1318503497 CA389249076 |
52 | W>C | No |
ClinGen TOPMed |
|
CA389249060 rs1213720720 |
52 | W>G | No |
ClinGen gnomAD |
|
CA257920482 rs867123197 |
53 | L>V | No |
ClinGen TOPMed |
|
CA389249114 rs1345327244 |
54 | Q>* | No |
ClinGen TOPMed |
|
rs1566481752 CA389249162 |
55 | L>F | No |
ClinGen Ensembl |
|
CA7136541 rs773752081 |
56 | E>Q | No |
ClinGen ExAC gnomAD |
|
rs1419698938 CA389249215 |
57 | G>E | No |
ClinGen gnomAD |
|
rs759060112 CA7136542 |
57 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs759060112 CA389249208 |
57 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
rs768048941 CA7136543 |
58 | P>L | No |
ClinGen ExAC gnomAD |
|
CA7136544 rs753195603 |
59 | R>Q | No |
ClinGen ExAC |
|
CA389249270 rs1310905139 |
60 | E>Q | No |
ClinGen gnomAD |
|
rs187697702 CA257920526 |
62 | M>I | No |
ClinGen 1000Genomes gnomAD |
|
rs1594735750 CA389249340 |
62 | M>K | No |
ClinGen Ensembl |
|
rs764449880 CA7136546 |
62 | M>V | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 65 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA389249498 rs1415878251 |
66 | K>E | No |
ClinGen gnomAD |
|
CA389249508 rs1315222102 |
66 | K>R | No |
ClinGen TOPMed gnomAD |
|
CA389254777 rs1330868879 |
70 | K>N | No |
ClinGen gnomAD |
|
rs1464270461 CA389254762 |
70 | K>R | No |
ClinGen gnomAD |
|
CA257929574 rs1009271726 |
73 | C>S | No |
ClinGen Ensembl |
|
rs750645928 CA7136569 |
77 | L>R | No |
ClinGen ExAC gnomAD |
|
rs758632924 CA7136570 |
80 | E>Q | No |
ClinGen ExAC gnomAD |
|
CA7136571 rs780283437 |
81 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
CA7136572 rs780283437 |
81 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA7136573 rs756142193 |
82 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA389255196 rs1594739117 |
83 | Y>S | No |
ClinGen Ensembl |
|
rs778485525 CA7136577 |
88 | H>L | No |
ClinGen ExAC gnomAD |
|
rs1468620371 CA389255390 |
88 | H>Q | No |
ClinGen gnomAD |
|
rs745526277 CA7136578 |
92 | L>P | No |
ClinGen ExAC gnomAD |
|
CA389255552 rs1365581919 |
94 | A>T | No |
ClinGen gnomAD |
|
CA257929623 rs1016527220 |
95 | Q>P | No |
ClinGen TOPMed |
|
CA7136582 rs769191962 |
97 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
CA389255747 rs1477081270 |
100 | D>G | No |
ClinGen gnomAD |
|
rs777192126 CA7136583 |
101 | C>G | No |
ClinGen ExAC gnomAD |
|
CA389255813 rs1291109902 |
102 | L>F | No |
ClinGen TOPMed |
|
rs1395552725 CA389255843 |
103 | C>R | No |
ClinGen gnomAD |
|
TCGA novel | 105 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1291888653 CA389255936 |
105 | S>N | No |
ClinGen gnomAD |
|
CA389255951 rs1594739147 |
106 | T>P | No |
ClinGen Ensembl |
|
COSM394429 rs1454804280 CA389255970 |
107 | L>F | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed |
rs1454804280 CA389255966 |
107 | L>V | No |
ClinGen TOPMed |
|
CA389256111 rs1386153416 |
110 | L>V | No |
ClinGen TOPMed gnomAD |
|
CA389256292 rs1168225489 |
113 | G>S | No |
ClinGen TOPMed |
|
rs571250742 CA257929699 |
114 | P>L | No |
ClinGen Ensembl |
|
CA389256331 rs1277310742 |
114 | P>T | No |
ClinGen TOPMed gnomAD |
|
CA7136588 rs557266750 |
115 | P>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs751733364 CA7136589 |
117 | S>F | No |
ClinGen ExAC gnomAD |
|
rs1313240519 CA389256627 |
119 | M>K | No |
ClinGen Ensembl |
|
TCGA novel | 121 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA389256756 rs1594739179 |
122 | G>R | No |
ClinGen Ensembl |
|
CA7136591 rs777636022 |
124 | T>I | No |
ClinGen ExAC gnomAD |
|
rs1487580060 CA389256835 |
125 | E>K | No |
ClinGen gnomAD |
|
CA257929732 rs986563058 |
126 | S>C | No |
ClinGen TOPMed gnomAD |
|
TCGA novel | 126 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA7136592 rs753798964 |
128 | I>V | No |
ClinGen ExAC gnomAD |
|
CA257929759 rs778796771 |
129 | M>K | No |
ClinGen Ensembl |
|
rs1566484295 TCGA novel CA389257150 |
131 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen Ensembl |
TCGA novel | 131 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA7136594 rs778802853 |
133 | W>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs757078571 CA7136593 |
133 | W>G | No |
ClinGen ExAC gnomAD |
|
CA7136595 rs373561750 |
137 | L>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1039992473 CA257929771 |
138 | V>L | No |
ClinGen TOPMed |
|
rs201881306 COSM3690046 CA7136596 |
140 | R>* | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
COSM1128278 rs1298258264 CA389257532 |
140 | R>Q | Variant assessed as Somatic; impact. prostate [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
CA7136598 rs746590236 |
142 | R>C | No |
ClinGen ExAC gnomAD |
|
CA7136599 rs768200995 |
142 | R>L | No |
ClinGen ExAC gnomAD |
|
rs1355781215 CA389257644 |
143 | W>C | No |
ClinGen gnomAD |
|
CA389257602 rs867723587 |
143 | W>G | No |
ClinGen Ensembl |
|
rs867723587 CA257929789 |
143 | W>R | No |
ClinGen Ensembl |
|
COSM552874 CA7136600 rs775948701 |
144 | G>C | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
CA7136602 rs762384920 |
144 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
CA7136601 rs762384920 |
144 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
COSM1477518 CA7136603 rs773733347 |
145 | P>A | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
rs773733347 CA7136604 |
145 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA7136605 rs766743805 |
146 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 146 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA389257798 rs1287476104 |
147 | P>H | No |
ClinGen gnomAD |
|
rs1168166660 CA389257885 |
150 | T>I | No |
ClinGen TOPMed |
|
TCGA novel | 150 | T>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 152 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA7136609 rs376552671 |
152 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs757243958 CA257929861 |
152 | R>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs757243958 CA7136610 |
152 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs376552671 CA7136608 |
152 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
CA389257963 rs1180476049 |
153 | G>R | No |
ClinGen gnomAD |
|
rs552507613 CA7136611 |
153 | G>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA389258003 rs1419870273 |
154 | I>V | No |
ClinGen gnomAD |
|
rs1161406327 CA389258067 |
155 | W>S | No |
ClinGen gnomAD |
|
CA7136612 rs750263825 |
157 | A>D | No |
ClinGen ExAC gnomAD |
|
CA7136613 rs370323848 |
159 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs370323848 CA389258222 |
159 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA389258263 rs1185749902 |
160 | T>A | No |
ClinGen TOPMed |
|
CA389258259 rs1185749902 |
160 | T>S | No |
ClinGen TOPMed |
|
CA389258347 rs1471588395 |
160 | T>S | No |
ClinGen TOPMed gnomAD |
|
CA7136615 rs572906859 COSM183587 |
161 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
CA7136614 rs373738856 |
161 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs754522325 CA7136616 |
162 | A>T | No |
ClinGen ExAC gnomAD |
|
rs1300836944 CA389258451 |
163 | F>L | No |
ClinGen gnomAD |
|
rs1391567850 CA389258496 |
164 | G>E | No |
ClinGen gnomAD |
|
rs1479490784 CA389258470 |
164 | G>R | No |
ClinGen TOPMed |
|
rs1391567850 CA389258488 |
164 | G>V | No |
ClinGen gnomAD |
|
rs770381190 CA7136619 |
165 | A>D | No |
ClinGen ExAC gnomAD |
|
CA7136618 rs747561773 |
165 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 167 | V>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs749733217 CA7136621 |
167 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
CA389258593 rs749733217 |
167 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs538522298 CA7136622 COSM3786240 |
170 | R>C | Variant assessed as Somatic; 0.0 impact. pancreas [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
rs1208524247 CA389258720 |
170 | R>H | No |
ClinGen TOPMed gnomAD |
|
rs774796152 CA7136623 |
171 | G>R | No |
ClinGen ExAC gnomAD |
|
CA389258852 rs1481101281 |
173 | Q>R | No |
ClinGen gnomAD |
|
CA7136626 rs558596464 |
183 | P>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA7136625 rs558596464 |
183 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs760640899 CA7136627 |
184 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1173726975 CA389259227 |
185 | V>I | No |
ClinGen gnomAD |
|
CA7136629 rs750350133 |
186 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
rs539374112 CA257930020 |
194 | R>Q | No |
ClinGen TOPMed gnomAD |
|
rs751312331 CA7136632 |
194 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
rs905159667 CA257930030 |
197 | A>V | No |
ClinGen TOPMed gnomAD |
|
CA7136634 rs202195057 |
198 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1200897268 CA389259703 |
198 | G>V | No |
ClinGen gnomAD |
|
rs747729947 CA7136635 |
201 | D>G | No |
ClinGen ExAC gnomAD |
|
rs1252172412 CA389259935 |
202 | I>F | No |
ClinGen TOPMed |
|
CA7136637 rs778480620 |
203 | I>L | No |
ClinGen ExAC gnomAD |
|
CA389260051 rs771495789 |
204 | E>K | No |
ClinGen ExAC gnomAD |
|
CA7136639 rs771495789 |
204 | E>Q | No |
ClinGen ExAC gnomAD |
|
CA389260127 rs1566484445 |
205 | W>* | No |
ClinGen Ensembl |
|
CA7136640 rs374698906 |
208 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA7136641 rs746196710 |
208 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs890504940 CA257930097 |
210 | G>S | No |
ClinGen TOPMed gnomAD |
|
rs200319488 CA7136644 |
213 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA389260596 rs1240145802 |
213 | D>G | No |
ClinGen Ensembl |
|
rs764176000 CA7136645 |
217 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
rs544385173 CA7136646 |
218 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA389260911 rs1276678062 |
219 | E>V | No |
ClinGen gnomAD |
|
CA389260989 rs1594739364 |
220 | V>G | No |
ClinGen Ensembl |
|
rs751416767 CA7136649 |
222 | I>N | No |
ClinGen ExAC gnomAD |
|
rs766253210 CA7136648 |
222 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1395057616 CA389261068 |
223 | C>F | No |
ClinGen TOPMed |
|
rs1449993834 CA389261118 |
224 | P>L | No |
ClinGen gnomAD |
|
rs767266661 CA7136651 |
230 | E>K | No |
ClinGen ExAC gnomAD |
|
rs752278686 CA7136652 |
231 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 232 | P>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs753351183 CA7136655 |
234 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
CA7136654 rs777425106 |
234 | M>L | No |
ClinGen ExAC gnomAD |
|
CA389261502 rs777425106 |
234 | M>V | No |
ClinGen ExAC gnomAD |
|
CA389261559 rs1346362521 |
235 | V>M | No |
ClinGen TOPMed gnomAD |
|
CA7136656 rs757889256 |
236 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA389261599 rs779532173 |
237 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA7136659 rs779532173 |
237 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1234263299 CA389261620 |
238 | G>A | No |
ClinGen gnomAD |
|
rs1286238874 CA389261708 |
240 | S>N | No |
ClinGen gnomAD |
|
CA257930178 rs561187132 |
242 | G>R | No |
ClinGen 1000Genomes |
|
rs1354469924 CA389261807 |
242 | G>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
rs1284985312 CA389261922 |
245 | V>M | No |
ClinGen gnomAD |
|
rs1268008731 CA389261952 |
246 | D>G | No |
ClinGen TOPMed |
|
rs772314423 CA7136661 |
247 | M>V | No |
ClinGen ExAC gnomAD |
|
CA7136662 COSM283457 rs368004631 |
248 | G>E | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
rs1481997998 CA389261991 |
248 | G>R | No |
ClinGen gnomAD |
|
CA257930193 rs1019381148 |
249 | T>S | No |
ClinGen TOPMed |
|
rs747204107 CA7136663 |
253 | R>G | No |
ClinGen ExAC gnomAD |
|
CA7136664 rs768828417 |
253 | R>M | No |
ClinGen ExAC gnomAD |
|
CA7136666 rs761855742 |
254 | G>C | No |
ClinGen ExAC TOPMed |
|
rs181738235 CA7136667 |
254 | G>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA257930233 rs761855742 |
254 | G>R | No |
ClinGen ExAC TOPMed |
|
rs952646306 CA257930260 |
256 | E>G | No |
ClinGen TOPMed |
|
TCGA novel | 258 | S>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs144241777 CA7136670 |
259 | K>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs144241777 CA7136669 |
259 | K>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA389262491 rs1422071552 |
260 | R>S | No |
ClinGen TOPMed gnomAD |
|
rs200156454 CA7136671 |
260 | R>T | No |
ClinGen ExAC gnomAD |
|
CA7136674 rs763818709 |
261 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
CA7136672 rs760433823 |
261 | L>V | No |
ClinGen ExAC gnomAD |
|
rs1336532058 CA389262808 |
265 | G>E | No |
ClinGen gnomAD |
|
rs1447521358 CA389262987 |
269 | S>Y | No |
ClinGen gnomAD |
|
TCGA novel | 270 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA389263076 rs1280212608 |
272 | T>I | No |
ClinGen gnomAD |
|
CA257930316 rs557985460 |
273 | A>P | No |
ClinGen TOPMed |
|
CA7136677 rs74036628 |
275 | S>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA7136678 COSM86262 rs758876637 |
277 | P>L | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
CA257930324 rs758876637 |
277 | P>Q | No |
ClinGen ExAC gnomAD |
|
rs768912222 CA7136681 |
279 | E>K | No |
ClinGen ExAC gnomAD |
|
CA7136682 rs781357560 |
280 | A>T | No |
ClinGen ExAC gnomAD |
|
rs978434923 CA257930359 |
281 | A>V | No |
ClinGen TOPMed |
|
rs1594739482 CA389263630 |
282 | N>T | No |
ClinGen Ensembl |
|
CA7136684 rs769850739 |
283 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA7136683 rs748289213 |
283 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs773284886 CA7136685 |
284 | L>V | No |
ClinGen ExAC gnomAD |
|
CA257930393 rs376822294 |
286 | R>Q | No |
ClinGen ESP |
|
rs772004028 CA7136687 |
286 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
rs755328039 CA7136699 |
287 | V>I | No |
ClinGen ExAC gnomAD |
|
CA257930500 rs994846671 |
288 | G>C | No |
ClinGen TOPMed gnomAD |
|
rs994846671 CA257930498 |
288 | G>S | No |
ClinGen TOPMed gnomAD |
|
TCGA novel | 289 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1374091338 CA389264288 |
290 | N>K | No |
ClinGen TOPMed |
|
CA389264267 rs1476599819 |
290 | N>S | No |
ClinGen TOPMed |
|
rs1171796959 CA389264312 |
291 | N>K | No |
ClinGen gnomAD |
|
rs867860900 CA257930506 |
291 | N>S | No |
ClinGen Ensembl |
|
CA257930511 rs1037695235 |
292 | Q>E | No |
ClinGen TOPMed gnomAD |
|
rs1464222690 CA389264423 |
294 | G>D | No |
ClinGen gnomAD |
|
rs1464222690 CA389264425 |
294 | G>V | No |
ClinGen gnomAD |
|
rs1391462117 CA389264491 |
295 | M>I | No |
ClinGen gnomAD |
|
rs1339437007 CA389264429 |
295 | M>L | No |
ClinGen gnomAD |
|
CA257930512 rs572019723 |
295 | M>T | No |
ClinGen gnomAD |
|
CA7136701 rs748383018 |
296 | D>N | No |
ClinGen ExAC gnomAD |
|
rs375922437 CA257930531 |
297 | S>N | No |
ClinGen ESP TOPMed gnomAD |
|
rs150643303 CA7136702 |
297 | S>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs201047655 CA7136703 |
298 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA389264642 rs1319592259 |
299 | Q>R | No |
ClinGen TOPMed gnomAD |
|
CA7136704 rs749337820 |
300 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1488555486 CA389264826 |
303 | T>K | No |
ClinGen gnomAD |
|
CA389264905 rs1265932641 |
304 | V>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
rs1265932641 CA389264911 |
304 | V>G | No |
ClinGen gnomAD |
|
CA7136705 rs771946122 |
304 | V>M | No |
ClinGen ExAC gnomAD |
|
CA389264939 rs1441809691 |
305 | Q>* | No |
ClinGen gnomAD |
|
rs1294661717 CA389264974 |
306 | A>D | No |
ClinGen TOPMed |
|
CA389264959 rs1194880007 |
306 | A>T | No |
ClinGen TOPMed gnomAD |
|
rs1476969117 CA389265021 |
308 | S>G | No |
ClinGen gnomAD |
|
rs1369262771 CA389265063 |
309 | S>N | No |
ClinGen gnomAD |
|
rs369993635 CA7136707 |
311 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1459542080 CA389265158 |
311 | D>G | No |
ClinGen TOPMed gnomAD |
|
CA389265162 rs1459542080 |
311 | D>V | No |
ClinGen TOPMed gnomAD |
|
rs1004150713 CA257930558 |
313 | T>A | No |
ClinGen TOPMed |
|
CA7136708 rs768586299 |
313 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
CA389267863 rs1182661895 |
315 | H>N | No |
ClinGen TOPMed gnomAD |
|
CA257930599 rs959886093 |
316 | T>I | No |
ClinGen TOPMed |
|
CA257930598 rs959886093 |
316 | T>R | No |
ClinGen TOPMed |
|
rs1397898732 CA389267945 |
317 | Q>K | No |
ClinGen gnomAD |
|
rs772650230 CA7136712 |
318 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
rs772650230 CA389268027 |
318 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
CA7136711 rs139819869 |
318 | A>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs772650230 CA7136713 |
318 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1263114959 CA389268145 |
321 | K>T | No |
ClinGen gnomAD |
|
rs1359398019 CA389268175 |
322 | Q>E | No |
ClinGen TOPMed gnomAD |
|
rs1359398019 CA389268172 |
322 | Q>K | No |
ClinGen TOPMed gnomAD |
|
rs113119792 CA7136715 CA7136716 |
323 | R>S | No |
ClinGen TOPMed gnomAD |
|
CA389268293 rs1594739686 |
325 | V>G | No |
ClinGen Ensembl |
|
rs752044926 CA7136718 |
325 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
CA7136719 rs755419891 |
327 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1170612364 CA389268392 |
327 | K>N | No |
ClinGen TOPMed gnomAD |
|
rs767871241 CA7136720 |
327 | K>T | No |
ClinGen ExAC gnomAD |
|
CA7136721 rs753017990 |
329 | E>G | No |
ClinGen ExAC gnomAD |
|
CA389268532 rs1594739693 |
331 | K>N | No |
ClinGen Ensembl |
|
CA257930681 rs74860786 |
334 | F>S | No |
ClinGen Ensembl |
|
CA389268655 rs1372025774 |
336 | P>T | No |
ClinGen TOPMed |
|
rs975595029 CA257930695 |
337 | P>S | No |
ClinGen TOPMed gnomAD |
|
CA389268722 rs1425728786 |
338 | V>I | No |
ClinGen gnomAD |
|
rs756310955 CA7136722 |
339 | S>P | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 340 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA7136723 rs778026341 |
342 | G>D | No |
ClinGen ExAC gnomAD |
|
rs1159240810 CA389268920 |
343 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
CA389268904 rs1159240810 |
343 | V>M | No |
ClinGen TOPMed gnomAD |
|
CA389268980 rs1397254471 COSM1607570 |
344 | C>Y | liver [Cosmic] | No |
ClinGen cosmic curated TOPMed |
rs1362375049 CA389269027 |
345 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
CA7136724 rs749396579 |
347 | W>G | No |
ClinGen ExAC TOPMed gnomAD |
|
CA7136725 rs757347389 |
351 | T>S | No |
ClinGen ExAC gnomAD |
|
rs779079283 CA7136726 |
352 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA257930714 rs925632200 |
352 | P>S | No |
ClinGen Ensembl |
|
CA7136728 rs768678577 |
353 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA389269511 rs1566484761 |
354 | P>R | No |
ClinGen Ensembl |
|
CA7136730 rs373163147 |
361 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA7136732 rs772910282 |
363 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA389269937 rs1274926005 |
363 | A>V | No |
ClinGen TOPMed |
|
rs762424673 CA7136733 |
365 | A>S | No |
ClinGen ExAC gnomAD |
|
rs765924476 CA7136734 |
365 | A>V | No |
ClinGen ExAC gnomAD |
|
rs1297732127 CA389270139 |
368 | F>L | No |
ClinGen TOPMed gnomAD |
|
rs944886130 CA257930751 |
370 | R>K | No |
ClinGen Ensembl |
|
CA257930767 rs370739201 |
372 | N>K | No |
ClinGen ESP TOPMed |
|
CA7136735 rs773783660 |
372 | N>S | No |
ClinGen ExAC gnomAD |
|
CA7136736 rs760066988 |
375 | H>Q | No |
ClinGen ExAC gnomAD |
|
CA389270342 rs1566484793 |
375 | H>R | No |
ClinGen Ensembl |
|
rs1039650678 CA257930798 |
377 | L>P | No |
ClinGen Ensembl |
|
rs1437695896 CA389270438 |
378 | H>Y | No |
ClinGen gnomAD |
|
CA389270527 rs1158147852 |
380 | A>S | No |
ClinGen gnomAD |
|
CA389270540 rs1359460945 |
380 | A>V | No |
ClinGen gnomAD |
|
CA7136739 rs200284224 |
382 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1439100793 CA389270635 |
382 | L>P | No |
ClinGen TOPMed |
|
CA7136741 rs375919152 |
386 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1375365505 CA389270799 |
387 | C>F | No |
ClinGen gnomAD |
|
rs779169130 CA7136743 |
387 | C>R | No |
ClinGen ExAC gnomAD |
|
rs1375365505 CA389270805 |
387 | C>S | No |
ClinGen gnomAD |
|
CA257930856 rs940699754 |
389 | N>D | No |
ClinGen Ensembl |
|
CA389270907 rs1343504670 |
389 | N>S | No |
ClinGen TOPMed |
|
CA389270932 rs1223651699 |
390 | F>Y | No |
ClinGen gnomAD |
|
rs750485412 CA7136744 |
391 | P>R | No |
ClinGen ExAC gnomAD |
|
CA389270944 rs1302427181 |
391 | P>S | No |
ClinGen gnomAD |
|
CA389270945 rs1302427181 |
391 | P>T | No |
ClinGen gnomAD |
|
rs1208455558 CA389270999 |
393 | W>R | No |
ClinGen gnomAD |
|
rs1262797212 CA389271015 |
394 | Q>E | No |
ClinGen gnomAD |
|
CA389271069 rs1161291091 |
395 | R>S | No |
ClinGen TOPMed |
|
CA7136746 rs781246698 |
396 | P>L | No |
ClinGen ExAC gnomAD |
|
CA7136747 rs781246698 |
396 | P>R | No |
ClinGen ExAC gnomAD |
|
rs929300856 CA257930862 |
396 | P>S | No |
ClinGen TOPMed |
|
rs1200627965 | 400 | I>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
rs1468540953 CA389271354 |
402 | L>W | No |
ClinGen gnomAD |
|
rs1173663517 CA389271493 |
406 | G>R | No |
ClinGen gnomAD |
|
TCGA novel | 408 | N>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA389271662 rs1428188971 |
409 | P>L | No |
ClinGen gnomAD |
|
rs773871684 CA7136752 |
411 | P>S | No |
ClinGen ExAC gnomAD |
|
CA7136753 rs759022803 |
413 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 416 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs772635571 CA7136754 |
418 | Q>K | No |
ClinGen ExAC gnomAD |
|
rs775964488 CA7136755 |
419 | K>R | No |
ClinGen ExAC gnomAD |
|
CA7136756 rs200184423 |
420 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
CA7136757 rs201508215 |
420 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1477951921 CA389272095 |
422 | A>S | No |
ClinGen TOPMed gnomAD |
|
CA7136758 rs754115535 |
423 | P>R | No |
ClinGen ExAC gnomAD |
|
rs748401666 CA257930916 |
425 | P>L | No |
ClinGen TOPMed gnomAD |
|
rs1231684808 CA389272215 |
425 | P>S | No |
ClinGen TOPMed |
|
rs762121476 CA7136759 |
426 | S>N | No |
ClinGen ExAC gnomAD |
|
rs1032749252 CA257930930 |
427 | A>T | No |
ClinGen gnomAD |
|
rs750575048 CA7136761 |
429 | S>G | No |
ClinGen ExAC gnomAD |
|
CA7136762 rs758545618 |
429 | S>N | No |
ClinGen ExAC gnomAD |
|
rs1172444035 CA389272455 |
430 | P>R | No |
ClinGen gnomAD |
|
rs1477949724 CA389272447 |
430 | P>T | No |
ClinGen gnomAD |
|
CA389272537 rs1408904562 |
432 | G>D | No |
ClinGen gnomAD |
|
CA7136763 rs781334023 |
432 | G>S | No |
ClinGen ExAC gnomAD |
|
rs752690083 CA7136764 |
434 | P>L | No |
ClinGen ExAC gnomAD |
|
CA7136767 rs777654963 CA389272642 |
436 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs777654963 CA7136766 |
436 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
rs191695865 CA7136768 |
437 | G>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA389272705 rs1341459104 |
437 | G>R | No |
ClinGen gnomAD |
|
rs1427934210 | 438 | L>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA7136771 rs771586058 |
439 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
CA257930967 rs1009187314 |
442 | A>S | No |
ClinGen TOPMed |
|
rs922107081 CA257930979 |
445 | Q>K | No |
ClinGen TOPMed |
|
CA389273355 rs1320570953 |
453 | S>A | No |
ClinGen gnomAD |
|
rs771537997 CA257930999 |
455 | K>E | No |
ClinGen Ensembl |
|
CA257931005 rs930821239 |
455 | K>R | No |
ClinGen TOPMed |
|
rs368386544 CA7136775 |
456 | V>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA7136777 rs762055012 |
457 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
rs12437434 CA7136778 VAR_037857 |
457 | T>M | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA7136776 rs762055012 |
457 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 458 | S>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1423309439 CA389273592 |
458 | S>N | No |
ClinGen TOPMed gnomAD |
|
CA389273578 rs1415252556 |
458 | S>R | No |
ClinGen TOPMed gnomAD |
|
rs1163575561 CA389273768 |
462 | V>A | No |
ClinGen gnomAD |
|
CA389273841 rs1421951732 |
463 | P>R | No |
ClinGen gnomAD |
|
rs766567921 CA7136780 |
463 | P>S | No |
ClinGen ExAC gnomAD |
|
CA7136781 rs751550168 |
464 | G>R | No |
ClinGen ExAC gnomAD |
|
rs940669989 CA257931045 |
465 | S>N | No |
ClinGen Ensembl |
|
CA7136784 rs753706025 |
467 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs149771079 CA7136783 |
467 | D>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA7136782 rs149771079 |
467 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA7136785 rs757034250 |
468 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
CA389274171 rs1245330388 |
469 | K>R | No |
ClinGen gnomAD |
|
rs745524157 CA7136787 COSM955061 |
470 | D>G | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
CA7136789 rs760202880 |
474 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA7136788 rs758007159 |
474 | S>P | No |
ClinGen ExAC gnomAD |
|
CA389274317 rs1297844334 |
475 | D>A | No |
ClinGen TOPMed |
|
CA389274408 COSM283458 rs1352588616 |
478 | Q>H | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
rs777003032 CA7136792 |
478 | Q>K | No |
ClinGen ExAC gnomAD |
|
CA7136793 rs375351963 |
478 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA257931167 rs867297643 |
480 | G>E | No |
ClinGen Ensembl |
|
CA389274538 rs1594739993 |
484 | T>A | No |
ClinGen Ensembl |
|
rs773641062 CA7136795 |
485 | S>F | No |
ClinGen ExAC gnomAD |
|
rs1381533525 CA389274633 |
486 | T>A | No |
ClinGen gnomAD |
|
rs1157227112 CA389274666 |
487 | P>H | No |
ClinGen gnomAD |
|
CA389274668 rs1157227112 |
487 | P>L | No |
ClinGen gnomAD |
|
TCGA novel | 488 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs763296422 CA7136796 |
489 | L>R | No |
ClinGen ExAC gnomAD |
|
CA7136797 rs766462162 |
490 | Q>* | No |
ClinGen ExAC gnomAD |
|
CA389274737 rs766462162 |
490 | Q>E | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 490 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA257931189 rs763697962 |
491 | A>P | No |
ClinGen gnomAD |
|
rs1417083964 CA389274841 |
494 | E>K | No |
ClinGen TOPMed |
|
CA7136799 rs367907615 |
495 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA7136800 rs367907615 |
495 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA7136798 rs774539372 |
495 | P>S | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 496 | G>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA257931238 rs1032716633 |
498 | Q>E | No |
ClinGen TOPMed gnomAD |
|
CA7136803 rs765047927 |
499 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs944909212 CA257931248 |
500 | S>R | No |
ClinGen TOPMed gnomAD |
|
CA389275038 rs1202493172 |
501 | M>I | No |
ClinGen TOPMed gnomAD |
|
CA389275013 rs1459687417 |
501 | M>V | No |
ClinGen gnomAD |
|
rs528511265 CA7136804 |
502 | Q>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs1459499346 CA389275129 |
504 | D>N | No |
ClinGen TOPMed gnomAD |
|
CA389275125 rs1459499346 |
504 | D>Y | No |
ClinGen TOPMed gnomAD |
|
rs779545570 CA389275200 |
507 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
rs375728700 CA7136805 |
507 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs779545570 CA7136806 |
507 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1306523805 CA389275210 |
508 | L>V | No |
ClinGen TOPMed |
|
CA7136807 rs746599929 |
509 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
rs369906228 CA7136808 |
511 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA7136810 rs748667976 |
513 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs770381425 CA7136811 |
513 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA7136812 rs773731159 |
514 | P>A | No |
ClinGen ExAC gnomAD |
|
CA389275437 rs1594740072 |
515 | V>L | No |
ClinGen Ensembl |
|
rs199653140 CA7136813 |
518 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
rs375391398 CA7136814 |
518 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs199653140 CA257931316 |
518 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs774430926 CA7136815 |
520 | Q>P | No |
ClinGen ExAC gnomAD |
|
CA389275578 rs1159429851 |
521 | G>E | No |
ClinGen gnomAD |
|
CA7136818 rs373058068 COSM955062 |
524 | V>M | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
CA7136819 rs761763445 |
525 | A>T | No |
ClinGen ExAC gnomAD |
|
CA389275707 rs1193569458 |
526 | Q>H | No |
ClinGen gnomAD |
|
COSM3401268 CA389275726 rs1452634221 |
527 | G>E | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
CA389275711 rs1250512409 |
527 | G>R | No |
ClinGen gnomAD |
|
rs1452634221 CA389275729 |
527 | G>V | No |
ClinGen TOPMed gnomAD |
|
CA389275838 rs1201469815 |
532 | Q>* | No |
ClinGen gnomAD |
|
CA7136820 rs765139986 |
532 | Q>H | No |
ClinGen ExAC gnomAD |
|
CA389275844 rs1267162055 |
532 | Q>P | No |
ClinGen gnomAD |
|
rs1171716968 CA389275918 |
535 | P>L | No |
ClinGen TOPMed gnomAD |
|
rs750261872 CA7136821 |
536 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1167391649 CA389275996 |
538 | Q>P | No |
ClinGen gnomAD |
|
rs762736202 CA7136822 |
539 | T>I | No |
ClinGen ExAC gnomAD |
|
rs766117294 CA7136823 |
540 | V>A | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 540 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA389276079 rs1310293050 |
541 | P>L | No |
ClinGen TOPMed |
|
CA389276063 rs1304758970 |
541 | P>S | No |
ClinGen gnomAD |
|
rs1404079617 CA389276116 |
543 | T>S | No |
ClinGen gnomAD |
|
CA7136826 rs754588570 |
547 | P>L | No |
ClinGen ExAC gnomAD |
|
rs1566485096 CA389276296 |
548 | M>V | No |
ClinGen Ensembl |
|
rs780596395 CA7136827 |
549 | A>T | No |
ClinGen ExAC gnomAD |
|
rs756732851 CA7136829 |
555 | A>D | No |
ClinGen ExAC gnomAD |
|
rs992141487 CA257931369 |
555 | A>P | No |
ClinGen Ensembl |
|
rs200584757 CA7136831 |
556 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs145724098 CA7136833 |
557 | N>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA7136832 rs771185887 |
557 | N>Y | No |
ClinGen ExAC gnomAD |
|
CA389276753 rs1451015837 |
558 | P>R | No |
ClinGen TOPMed |
|
CA257931384 rs267603970 |
558 | P>S | No |
ClinGen TOPMed |
|
rs267603970 CA389276747 |
558 | P>T | No |
ClinGen TOPMed |
|
rs927248858 CA257931388 |
560 | R>G | No |
ClinGen Ensembl |
|
CA389276817 rs1192562964 |
560 | R>I | No |
ClinGen gnomAD |
|
rs1369086851 CA389276825 |
561 | T>A | No |
ClinGen gnomAD |
|
rs377093455 CA7136836 CA389276912 |
562 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs370185858 CA7136838 |
564 | P>L | No |
ClinGen ESP ExAC gnomAD |
|
TCGA novel | 564 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 565 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs773124937 CA7136839 |
566 | A>V | No |
ClinGen ExAC gnomAD |
|
CA257931404 rs866326115 |
567 | A>T | No |
ClinGen TOPMed gnomAD |
|
rs762894342 CA7136840 |
568 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
rs762894342 CA389277111 |
568 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1594740180 CA389277154 |
569 | K>Q | No |
ClinGen Ensembl |
|
rs1363644344 CA389277177 |
569 | K>R | No |
ClinGen TOPMed gnomAD |
|
CA389277186 rs1380129203 |
570 | L>M | No |
ClinGen TOPMed gnomAD |
|
CA7136842 rs766088225 |
571 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs766088225 CA7136841 |
571 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA7136843 COSM955063 rs759130124 |
574 | R>* | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
CA7136844 rs767253660 |
574 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
rs752294572 CA7136845 |
575 | M>V | No |
ClinGen ExAC gnomAD |
|
CA389277451 rs1233901525 |
576 | M>I | No |
ClinGen TOPMed |
|
rs1217821801 CA389277413 |
576 | M>L | No |
ClinGen gnomAD |
|
CA389277415 rs1217821801 |
576 | M>V | No |
ClinGen gnomAD |
|
rs755678771 CA7136846 |
578 | A>P | No |
ClinGen ExAC gnomAD |
|
rs755678771 CA7136847 |
578 | A>T | No |
ClinGen ExAC gnomAD |
|
CA7136848 rs754402081 |
578 | A>V | No |
ClinGen ExAC gnomAD |
|
CA257931446 rs1054220452 |
579 | V>G | No |
ClinGen Ensembl |
|
CA7136850 rs375647768 |
580 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA389277636 rs1443860955 |
581 | T>A | No |
ClinGen gnomAD |
|
CA7136853 rs377709968 |
582 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA389277757 rs1451330282 |
583 | P>R | No |
ClinGen gnomAD |
|
CA7136854 rs371037597 |
586 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs368022553 CA7136856 |
587 | E>K | Variant assessed as Somatic; 4.694e-05 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
CA7136857 rs371945048 |
588 | V>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs770851041 CA7136858 |
589 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA389278044 rs1382697072 |
589 | P>S | No |
ClinGen gnomAD |
|
CA7136859 rs532810477 |
593 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1238777240 CA389278227 |
594 | K>N | No |
ClinGen gnomAD |
|
rs201954983 CA7136861 |
597 | A>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA389278308 rs1201859441 |
597 | A>P | No |
ClinGen gnomAD |
|
CA389278332 rs1182093807 |
598 | Q>* | No |
ClinGen gnomAD |
|
rs1460834735 CA389278397 |
599 | L>P | No |
ClinGen gnomAD |
|
rs867127147 CA257931478 |
602 | T>A | No |
ClinGen gnomAD |
|
CA389278517 rs1417150286 |
603 | A>T | No |
ClinGen gnomAD |
|
CA7136862 rs767343609 |
606 | T>A | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 606 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs767343609 CA257931482 |
606 | T>P | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 606 | T>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1217581484 CA389278710 |
607 | V>A | No |
ClinGen Ensembl |
|
rs760345842 CA389278815 |
611 | P>S | No |
ClinGen ExAC gnomAD |
|
CA7136864 rs760345842 |
611 | P>T | No |
ClinGen ExAC gnomAD |
|
CA389279080 rs1372964984 |
618 | E>* | No |
ClinGen TOPMed |
|
CA389279123 rs1391194816 |
619 | P>L | No |
ClinGen gnomAD |
|
CA389279113 rs1371799502 |
619 | P>S | No |
ClinGen gnomAD |
|
CA389279130 rs1191717861 |
620 | T>A | No |
ClinGen TOPMed |
|
CA389279194 rs1250331726 |
622 | P>Q | No |
ClinGen gnomAD |
|
CA389279205 rs1302337890 |
623 | K>N | No |
ClinGen gnomAD |
|
rs1325965983 CA389279216 |
624 | T>I | No |
ClinGen gnomAD |
|
rs1221861529 CA389279229 |
625 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
CA389279235 rs1262726450 |
626 | Q>* | No |
ClinGen gnomAD |
|
rs757756582 CA7136867 |
626 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 626 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA389279278 rs1234589082 |
627 | A>G | No |
ClinGen gnomAD |
|
CA389279297 rs1479582727 |
628 | Q>* | No |
ClinGen gnomAD |
|
rs1264066649 CA389279308 |
628 | Q>L | No |
ClinGen TOPMed |
|
CA257931505 rs867633221 |
630 | M>I | No |
ClinGen gnomAD |
|
CA389279397 rs1269279065 |
631 | P>L | No |
ClinGen gnomAD |
|
CA257931509 rs1015112049 |
632 | V>L | No |
ClinGen gnomAD |
|
CA257931511 rs962096321 |
637 | P>L | No |
ClinGen Ensembl |
|
rs765746103 CA7136869 |
637 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA389279545 rs1465745149 |
638 | A>T | No |
ClinGen gnomAD |
|
CA7136871 rs376129072 |
639 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
CA389279567 rs1353275813 |
639 | G>C | No |
ClinGen gnomAD |
|
rs376129072 CA389279576 |
639 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
CA7136872 RCV000960063 rs145306004 |
641 | K>Q | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA389279648 rs1347838752 |
642 | T>A | No |
ClinGen gnomAD |
|
CA7136873 rs747240099 |
643 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs755150065 CA7136874 |
644 | K>R | No |
ClinGen ExAC gnomAD |
|
rs1566485289 CA389279869 |
647 | A>G | No |
ClinGen Ensembl |
|
CA7136875 rs781268310 |
647 | A>T | No |
ClinGen ExAC gnomAD |
|
CA7136877 rs770811678 |
648 | G>R | No |
ClinGen ExAC gnomAD |
|
rs1203669104 CA389279957 |
650 | A>T | No |
ClinGen gnomAD |
|
rs1292376531 CA389279982 |
650 | A>V | No |
ClinGen gnomAD |
|
CA257931526 rs936291554 |
651 | A>G | No |
ClinGen TOPMed gnomAD |
|
CA257931536 rs796887667 |
652 | T>A | No |
ClinGen Ensembl |
|
CA7136879 rs147608016 |
653 | V>A | No |
ClinGen 1000Genomes TOPMed |
|
CA389280142 rs1267752553 |
654 | S>P | No |
ClinGen TOPMed gnomAD |
|
CA7136882 rs774339840 CA7136883 |
655 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
CA389280259 rs1187797357 |
656 | A>P | No |
ClinGen TOPMed gnomAD |
|
rs1187797357 CA389280254 |
656 | A>T | No |
ClinGen TOPMed gnomAD |
|
CA389280284 rs1416712002 |
656 | A>V | No |
ClinGen gnomAD |
|
CA389280305 rs1408841206 |
657 | P>L | No |
ClinGen gnomAD |
|
rs1367997178 CA389280312 |
658 | A>T | No |
ClinGen gnomAD |
|
rs1474280593 CA389280345 |
659 | A>P | No |
ClinGen TOPMed |
|
VAR_037858 rs8008203 CA257931557 |
659 | A>V | No |
ClinGen UniProt 1000Genomes ESP TOPMed dbSNP gnomAD |
|
CA7136885 rs371964335 |
660 | S>A | No |
ClinGen ESP ExAC TOPMed |
|
CA7136886 rs371964335 |
660 | S>P | No |
ClinGen ESP ExAC TOPMed |
|
TCGA novel | 662 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs200060308 CA7136888 |
663 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs543003504 CA257931582 |
664 | A>T | No |
ClinGen gnomAD |
|
CA389280556 rs1433103582 |
664 | A>V | No |
ClinGen gnomAD |
|
rs1268510020 CA389280619 |
666 | P>S | No |
ClinGen TOPMed gnomAD |
|
CA389280655 rs1196673219 |
667 | K>E | No |
ClinGen TOPMed |
|
CA257931585 rs796386133 |
668 | V>A | No |
ClinGen TOPMed gnomAD |
|
rs1361415676 CA389280750 |
669 | P>S | No |
ClinGen TOPMed gnomAD |
|
rs1315720504 CA389280809 |
670 | V>A | No |
ClinGen gnomAD |
|
CA7136890 rs761385721 |
672 | P>T | No |
ClinGen ExAC |
|
TCGA novel | 674 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1594740413 CA389281029 |
675 | S>Y | No |
ClinGen Ensembl |
|
rs1217559901 CA389281036 |
676 | R>G | No |
ClinGen gnomAD |
|
rs750958289 CA7136892 |
677 | A>T | No |
ClinGen ExAC gnomAD |
|
rs1474833203 CA389281136 |
678 | P>A | No |
ClinGen gnomAD |
|
rs758838841 CA7136893 |
678 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs758838841 CA7136894 |
678 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs868791706 CA257931612 |
679 | K>Q | No |
ClinGen TOPMed gnomAD |
|
rs368211399 CA257931613 |
680 | T>I | No |
ClinGen gnomAD |
|
rs755240078 CA7136896 |
681 | P>L | No |
ClinGen ExAC gnomAD |
|
CA7136895 rs751868586 |
681 | P>S | No |
ClinGen ExAC gnomAD |
|
CA7136897 rs781442512 |
682 | A>V | No |
ClinGen ExAC gnomAD |
|
CA389281345 rs1316546284 |
684 | Q>H | No |
ClinGen gnomAD |
|
rs554700851 COSM955066 CA7136900 |
687 | P>L | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
CA7136899 rs756203827 |
687 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs756203827 CA389281450 |
687 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs764918846 CA7136901 |
688 | T>M | No |
ClinGen ExAC gnomAD |
|
rs994794590 CA257931659 |
689 | D>N | No |
ClinGen TOPMed gnomAD |
|
rs994794590 CA389281526 |
689 | D>Y | No |
ClinGen TOPMed gnomAD |
|
rs1401601689 CA389281652 |
690 | A>S | No |
ClinGen TOPMed |
|
rs1225255237 CA389281656 |
690 | A>V | No |
ClinGen gnomAD |
|
CA389281670 rs1446002548 |
691 | G>R | No |
ClinGen gnomAD |
|
rs1244401113 CA389281736 |
692 | P>L | No |
ClinGen gnomAD |
|
rs1364845353 CA389281846 |
695 | D>G | No |
ClinGen gnomAD |
|
CA7136905 rs768490988 |
695 | D>N | No |
ClinGen ExAC gnomAD |
|
CA389281980 rs1471396298 |
697 | A>V | No |
ClinGen gnomAD |
|
rs1344589737 CA389282082 |
700 | L>R | No |
ClinGen Ensembl |
|
rs761316892 CA7136907 |
700 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA389282092 rs1470404789 |
701 | S>R | No |
ClinGen gnomAD |
|
CA7136908 rs769355894 |
703 | V>D | No |
ClinGen ExAC |
|
rs1451969475 CA389282503 |
709 | A>V | No |
ClinGen gnomAD |
|
CA7136910 rs772560646 |
710 | S>N | No |
ClinGen ExAC gnomAD |
|
rs996204726 CA257931673 |
711 | V>F | No |
ClinGen gnomAD |
|
rs1444124416 CA389282591 |
712 | S>P | No |
ClinGen gnomAD |
|
CA389282568 rs1444124416 |
712 | S>T | No |
ClinGen gnomAD |
|
CA389282705 rs1349543193 |
713 | L>F | No |
ClinGen gnomAD |
|
TCGA novel | 715 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs766844716 CA7136912 |
716 | G>S | No |
ClinGen ExAC gnomAD |
|
rs1320850066 CA389282798 |
717 | Q>E | No |
ClinGen TOPMed gnomAD |
|
CA389282874 rs1251889751 |
718 | G>E | No |
ClinGen gnomAD |
|
CA7136914 rs759887246 |
720 | A>T | No |
ClinGen ExAC gnomAD |
|
RCV000893795 rs200984430 CA7136915 |
721 | G>R | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1006494539 CA389282976 |
722 | R>S | No |
ClinGen gnomAD |
|
TCGA novel rs1594740513 CA389283043 |
724 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Ensembl |
rs1201916164 CA389283074 |
725 | P>L | No |
ClinGen gnomAD |
|
CA7136916 rs752976271 |
726 | Q>P | No |
ClinGen ExAC gnomAD |
|
rs1397129123 CA389283165 |
728 | S>T | No |
ClinGen gnomAD |
|
TCGA novel | 730 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1411553125 CA389283263 |
730 | T>S | No |
ClinGen TOPMed gnomAD |
|
CA389283358 rs1238677972 |
732 | A>D | No |
ClinGen TOPMed |
|
rs376464969 CA7136918 |
732 | A>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
CA7136919 rs376464969 |
732 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA7136921 rs750271245 |
734 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs182330062 CA7136923 |
735 | S>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs182330062 CA7136922 |
735 | S>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1228398813 CA389283537 |
736 | K>N | No |
ClinGen TOPMed |
|
CA257931710 rs780786827 |
737 | H>Q | No |
ClinGen ExAC |
|
CA389283542 rs1349432394 |
737 | H>Y | No |
ClinGen TOPMed |
|
COSM1369400 CA389283653 rs1448322458 |
739 | F>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
CA389283747 rs1343195473 |
742 | E>V | No |
ClinGen TOPMed gnomAD |
|
rs747870883 CA7136925 |
744 | L>V | No |
ClinGen ExAC gnomAD |
|
rs1351685122 CA389283959 |
750 | G>R | No |
ClinGen TOPMed |
|
TCGA novel | 751 | A>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA389284028 rs1342119984 |
752 | P>S | No |
ClinGen gnomAD |
|
CA389284107 rs1400214089 |
754 | Q>H | No |
ClinGen TOPMed |
|
CA7136927 rs772825031 |
754 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1160718241 CA389284126 |
755 | P>L | No |
ClinGen TOPMed |
|
rs559761812 CA7136929 |
755 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA7136928 rs559761812 |
755 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs774825048 CA7136930 |
756 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs267603971 CA7136931 |
757 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
COSM955067 rs201382639 CA7136932 |
757 | R>H | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
rs1480192933 CA389284207 |
758 | H>Q | No |
ClinGen gnomAD |
|
rs752963794 CA389284278 |
761 | A>G | No |
ClinGen ExAC gnomAD |
|
CA7136933 rs752963794 COSM955068 |
761 | A>V | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
rs371144068 CA7136936 |
762 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1166125350 CA389284352 |
763 | S>T | No |
ClinGen gnomAD |
|
CA389284672 rs1304664474 |
771 | Y>* | No |
ClinGen gnomAD |
|
CA7136938 rs765352066 |
771 | Y>C | No |
ClinGen ExAC gnomAD |
|
rs1363368161 CA389284696 |
772 | H>R | No |
ClinGen gnomAD |
|
CA389284723 rs1295825406 |
773 | E>K | No |
ClinGen gnomAD |
|
TCGA novel | 774 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1594740607 CA389284770 |
774 | A>V | No |
ClinGen Ensembl |
|
rs755826892 CA389284901 |
780 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
rs755826892 CA7136943 |
780 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
CA7136944 rs372080002 |
780 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs766395717 CA7136946 |
785 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
CA389285122 rs1165269034 |
786 | E>D | No |
ClinGen gnomAD |
|
CA7136948 rs370769954 |
786 | E>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA7136947 rs377683866 |
786 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs751504287 CA7136950 |
787 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 787 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs751504287 CA7136949 |
787 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1189181625 CA389285217 |
790 | Q>E | No |
ClinGen TOPMed |
|
rs1420614356 CA389285240 |
790 | Q>H | No |
ClinGen TOPMed |
|
rs547141864 CA7136951 |
790 | Q>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs547141864 CA257931809 |
790 | Q>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs777009648 CA7136953 |
791 | G>A | No |
ClinGen ExAC gnomAD |
|
rs781272668 CA7136952 |
791 | G>R | No |
ClinGen ExAC gnomAD |
|
CA389285288 rs777009648 |
791 | G>V | No |
ClinGen ExAC gnomAD |
|
rs765443117 CA7136955 |
793 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs762063546 CA7136954 |
793 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
rs750485430 CA7136956 |
794 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1594740647 CA389285379 |
795 | V>G | No |
ClinGen Ensembl |
|
rs754988176 CA7136957 |
795 | V>M | No |
ClinGen ExAC gnomAD |
|
CA257931833 rs62000678 |
797 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs752600470 CA7136959 |
797 | I>T | No |
ClinGen ExAC |
|
CA389285504 rs1262773359 |
799 | G>D | No |
ClinGen gnomAD |
|
CA7136961 rs777484499 |
799 | G>S | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 799 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA7136962 rs748942924 |
801 | S>G | No |
ClinGen ExAC gnomAD |
|
rs1474782349 CA389285611 |
801 | S>N | No |
ClinGen TOPMed |
|
CA257931837 rs756372580 |
802 | V>A | No |
ClinGen TOPMed |
|
CA389285643 rs756372580 |
802 | V>E | No |
ClinGen TOPMed |
|
rs1204666371 CA389285687 |
804 | M>V | No |
ClinGen gnomAD |
|
rs756862512 CA7136963 |
805 | V>M | No |
ClinGen ExAC gnomAD |
|
rs1269166343 CA389287728 |
809 | Q>R | No |
ClinGen gnomAD |
|
rs764954975 CA7137000 |
811 | F>Y | No |
ClinGen ExAC gnomAD |
|
rs780897384 | 812 | F>missing | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
CA389287873 rs1353257595 |
814 | C>F | No |
ClinGen gnomAD |
|
CA257932809 rs971821030 |
815 | R>* | No |
ClinGen gnomAD |
|
CA257932812 rs368644928 |
815 | R>Q | No |
ClinGen ESP TOPMed gnomAD |
|
CA389287970 rs1367723124 |
818 | A>V | No |
ClinGen gnomAD |
|
CA7137003 rs370778319 |
819 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
rs772745095 CA7137002 |
819 | M>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
CA389288032 rs1408582861 |
821 | V>L | No |
ClinGen TOPMed |
|
CA7137007 rs748584472 |
822 | Q>H | No |
ClinGen ExAC gnomAD |
|
CA7137006 rs781762444 |
822 | Q>P | No |
ClinGen ExAC gnomAD |
|
rs1339900581 CA389288099 |
823 | F>S | No |
ClinGen gnomAD |
|
rs1292177693 CA389288213 COSM1218142 |
827 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
rs770299659 CA7137008 |
827 | R>W | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 828 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1490773659 CA389288245 |
829 | H>Q | No |
ClinGen gnomAD |
|
CA7137009 rs371937730 |
830 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs540767530 CA7137010 |
830 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
CA389288255 rs1187704898 |
831 | E>K | No |
ClinGen gnomAD |
|
CA7137012 rs780845306 |
832 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 833 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs747717073 CA257932848 |
838 | T>S | No |
ClinGen Ensembl |
|
rs776562470 CA7137015 |
842 | K>R | No |
ClinGen ExAC gnomAD |
|
rs376203691 CA7137016 |
845 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1345997753 CA389288543 |
846 | R>K | No |
ClinGen TOPMed gnomAD |
|
rs1345997753 CA389288536 |
846 | R>M | No |
ClinGen TOPMed gnomAD |
|
CA7137036 rs192585061 |
849 | E>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
TCGA novel | 850 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA389288772 rs1327945008 |
851 | H>Y | No |
ClinGen TOPMed gnomAD |
|
rs762799957 COSM955070 CA7137038 |
854 | T>M | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
CA389288969 rs1441123158 |
857 | H>D | No |
ClinGen gnomAD |
|
CA389288964 rs1441123158 |
857 | H>Y | No |
ClinGen gnomAD |
|
CA7137039 rs547499850 |
858 | S>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
TCGA novel | 860 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs759200905 CA7137041 |
861 | M>L | No |
ClinGen ExAC gnomAD |
|
CA389289223 rs1470352390 |
864 | I>M | No |
ClinGen gnomAD |
|
rs112923621 CA257933028 |
868 | Q>K | No |
ClinGen Ensembl |
|
rs1404311583 CA389289410 |
869 | L>P | No |
ClinGen gnomAD |
|
CA7137043 rs752207041 |
870 | E>Q | No |
ClinGen ExAC gnomAD |
|
rs1411421778 CA389289537 |
873 | K>E | No |
ClinGen gnomAD |
|
rs764632691 CA7137045 |
877 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 878 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs779080140 CA7137048 |
881 | R>W | No |
ClinGen ExAC gnomAD |
|
rs751644731 CA7137069 |
884 | V>L | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 885 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1345734969 CA389291930 |
887 | A>G | No |
ClinGen TOPMed |
|
CA7137071 rs755102842 |
887 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1388058127 CA389291939 |
888 | E>* | No |
ClinGen gnomAD |
|
rs1318130078 CA389292035 |
892 | G>S | No |
ClinGen TOPMed |
|
rs367836202 CA257936361 |
893 | I>T | No |
ClinGen ESP TOPMed gnomAD |
|
rs749282422 CA7137073 |
900 | I>F | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 901 | H>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs979292744 CA257936374 |
901 | H>L | No |
ClinGen Ensembl |
|
rs946550334 CA257936369 |
901 | H>Y | No |
ClinGen Ensembl |
|
rs1247420191 CA389292309 |
904 | M>R | No |
ClinGen gnomAD |
|
CA7137074 rs770727942 |
906 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA389292355 rs1355821906 |
906 | S>N | No |
ClinGen gnomAD |
|
TCGA novel | 908 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs770637725 CA7137076 |
910 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1463581756 CA389292477 |
913 | K>Q | No |
ClinGen gnomAD |
|
CA7137077 rs771918596 |
913 | K>R | No |
ClinGen ExAC gnomAD |
|
rs935110217 CA257936391 |
914 | D>G | No |
ClinGen Ensembl |
|
rs775268808 CA7137078 |
915 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs775268808 CA389292518 |
915 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs200022118 CA7137079 |
915 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs368021960 CA7137097 |
918 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs372202987 CA7137098 |
922 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA7137102 rs763387579 |
931 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
rs765612926 CA257936550 |
932 | P>L | No |
ClinGen TOPMed gnomAD |
|
rs765612926 CA389293123 |
932 | P>R | No |
ClinGen TOPMed gnomAD |
|
TCGA novel | 934 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs774532184 CA7137104 |
935 | R>C | No |
ClinGen ExAC gnomAD |
|
CA389293177 rs774532184 |
935 | R>G | No |
ClinGen ExAC gnomAD |
|
CA7137105 rs533383251 |
935 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
TCGA novel | 935 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA7137106 rs767604457 |
936 | D>N | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 937 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA389293251 rs1164097330 |
938 | P>A | No |
ClinGen gnomAD |
|
CA257936587 rs905758273 |
938 | P>L | No |
ClinGen TOPMed |
|
CA7137109 rs368950291 |
939 | T>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1423716314 CA389293293 |
941 | D>E | No |
ClinGen TOPMed |
|
CA257936594 rs771044984 |
941 | D>H | No |
ClinGen TOPMed |
|
CA7137111 rs758361461 |
941 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 944 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA389293435 rs1368972775 |
946 | K>R | No |
ClinGen gnomAD |
|
CA7137134 rs754738912 |
951 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs780970857 CA7137135 |
952 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1464931709 CA389293880 |
954 | I>T | No |
ClinGen gnomAD |
|
rs1210529781 CA389293866 |
954 | I>V | No |
ClinGen TOPMed |
|
rs200069421 CA257937109 |
960 | V>M | No |
ClinGen gnomAD |
|
CA389294096 rs1403764493 |
963 | T>A | No |
ClinGen gnomAD |
|
CA389294115 rs771536071 |
963 | T>I | No |
ClinGen ExAC gnomAD |
|
CA389294089 rs1403764493 |
963 | T>P | No |
ClinGen gnomAD |
|
CA7137140 rs771536071 |
963 | T>S | No |
ClinGen ExAC gnomAD |
|
rs1345898794 CA389294117 |
964 | L>I | No |
ClinGen gnomAD |
|
rs1458883218 CA389294131 |
964 | L>P | No |
ClinGen gnomAD |
|
rs772328590 CA7137143 |
968 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1284523103 CA389294237 |
969 | A>T | No |
ClinGen gnomAD |
|
CA7137145 rs761027102 |
975 | S>N | No |
ClinGen ExAC gnomAD |
|
CA389294447 rs1288790624 |
977 | D>G | No |
ClinGen TOPMed |
|
VAR_037859 rs8017377 CA7137148 |
978 | A>T | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA389294485 rs1211288948 |
980 | S>P | No |
ClinGen gnomAD |
|
CA7137150 rs201369368 |
981 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA389294535 rs181160538 |
982 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs181160538 CA7137152 |
982 | P>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA389294641 rs1156947852 |
985 | S>N | No |
ClinGen gnomAD |
|
CA7137154 rs752469901 |
986 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
CA389294651 rs752469901 |
986 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA7137155 COSM3419753 rs373042156 |
987 | P>L | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
rs373042156 CA7137156 |
987 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs146414871 CA7137158 |
988 | N>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs146414871 CA7137157 |
988 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
TCGA novel | 989 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1445527904 CA389294716 |
989 | M>V | No |
ClinGen gnomAD |
|
CA7137160 rs778420705 |
990 | E>G | No |
ClinGen ExAC gnomAD |
|
rs778420705 CA7137159 |
990 | E>V | No |
ClinGen ExAC gnomAD |
|
rs934759594 CA257937190 |
997 | E>G | No |
ClinGen Ensembl |
|
rs3742518 VAR_037860 CA7137161 |
997 | E>K | No |
ClinGen UniProt ExAC dbSNP gnomAD |
|
CA389295062 rs1285850000 |
999 | R>G | No |
ClinGen gnomAD |
|
rs1327837666 CA389295075 |
999 | R>M | No |
ClinGen gnomAD |
|
CA389295145 rs1370433601 |
1001 | D>N | No |
ClinGen gnomAD |
|
rs1220351937 CA389295209 |
1002 | E>A | No |
ClinGen gnomAD |
|
COSM1740122 rs200803889 CA7137163 |
1003 | E>D | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
rs780603993 CA7137162 |
1003 | E>K | No |
ClinGen ExAC gnomAD |
|
rs1330114562 CA389295349 |
1005 | R>I | No |
ClinGen TOPMed |
|
rs769054523 CA7137164 |
1006 | Q>* | No |
ClinGen ExAC gnomAD |
|
rs777003696 CA7137165 |
1006 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1252819045 CA389295382 |
1006 | Q>P | No |
ClinGen gnomAD |
|
CA389295383 rs1252819045 |
1006 | Q>R | No |
ClinGen gnomAD |
|
CA389295478 rs1180261017 |
1009 | G>D | No |
ClinGen gnomAD |
|
CA389295502 rs1411379756 |
1010 | T>P | No |
ClinGen gnomAD |
|
rs762023837 CA7137166 |
1011 | Q>E | No |
ClinGen ExAC gnomAD |
|
rs199693660 CA7137168 |
1013 | A>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs199693660 CA7137167 |
1013 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA389295598 rs1412553059 |
1014 | A>T | No |
ClinGen gnomAD |
|
CA389295613 rs1566487207 |
1015 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
CA7137171 rs550900598 |
1016 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA7137173 rs760451377 |
1019 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
rs763821704 CA7137175 |
1020 | D>H | No |
ClinGen ExAC gnomAD |
|
CA7137174 rs763821704 |
1020 | D>Y | No |
ClinGen ExAC gnomAD |
|
CA389295830 rs1349408747 |
1021 | S>F | No |
ClinGen gnomAD |
|
rs1388936658 CA389295855 |
1022 | S>A | No |
ClinGen TOPMed |
|
rs778334456 CA7137177 |
1022 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1427771180 CA389295890 |
1024 | A>T | No |
ClinGen TOPMed |
|
rs1219040529 CA389295906 |
1024 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
CA7137180 rs535872115 |
1025 | S>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA389296051 rs1190616437 |
1029 | V>G | No |
ClinGen TOPMed |
|
rs951130609 CA257937247 |
1029 | V>M | No |
ClinGen TOPMed |
|
CA389296056 rs747458117 |
1030 | E>* | No |
ClinGen ExAC gnomAD |
|
CA7137181 rs747458117 |
1030 | E>Q | No |
ClinGen ExAC gnomAD |
|
rs986518721 CA257937254 |
1031 | C>F | No |
ClinGen TOPMed |
|
CA7137183 rs375520766 |
1032 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA257937264 rs375520766 |
1032 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs755396512 CA7137182 |
1032 | P>S | No |
ClinGen ExAC gnomAD |
|
CA7137187 rs773207818 |
1035 | S>L | No |
ClinGen ExAC |
|
rs368482072 CA7137189 |
1038 | I>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA7137191 rs201775736 |
1040 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
CA7137192 rs763907941 |
1040 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
COSM3814648 CA7137190 rs201775736 |
1040 | R>W | breast [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
CA7137194 rs761411228 |
1041 | C>Y | No |
ClinGen ExAC gnomAD |
|
rs1324907843 CA389299526 |
1044 | L>F | No |
ClinGen gnomAD |
|
rs546544996 CA7137195 |
1045 | H>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1226576107 CA389299559 |
1047 | P>L | No |
ClinGen TOPMed gnomAD |
|
rs757937013 CA7137197 |
1047 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
CA7137199 rs752141342 |
1048 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1566487288 CA389299585 |
1049 | D>E | No |
ClinGen Ensembl |
|
CA7137200 rs755490662 |
1049 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
rs925128322 CA257937333 |
1050 | G>R | No |
ClinGen TOPMed |
|
rs936733579 CA257937347 |
1053 | D>G | No |
ClinGen TOPMed gnomAD |
|
rs1447806866 CA389299640 |
1054 | I>F | No |
ClinGen TOPMed gnomAD |
|
rs1447806866 CA389299638 |
1054 | I>V | No |
ClinGen TOPMed gnomAD |
|
CA389299657 rs1594742744 |
1055 | D>A | No |
ClinGen Ensembl |
|
CA389299654 rs1248551237 |
1055 | D>N | No |
ClinGen gnomAD |
|
rs1186363240 CA389299678 |
1057 | L>V | No |
ClinGen gnomAD |
|
CA7137201 rs781725280 |
1059 | G>R | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 1060 | A>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA389299712 rs1164608993 |
1060 | A>T | No |
ClinGen TOPMed gnomAD |
|
CA389299725 rs756361954 |
1061 | A>P | No |
ClinGen ExAC gnomAD |
|
CA7137203 rs756361954 |
1061 | A>T | No |
ClinGen ExAC gnomAD |
|
rs1484378633 CA389299743 |
1062 | S>F | No |
ClinGen TOPMed |
|
rs1460456611 CA389299745 |
1063 | P>T | No |
ClinGen gnomAD |
|
rs1414234981 CA389299762 |
1064 | Y>H | No |
ClinGen gnomAD |
|
TCGA novel | 1066 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA389299810 COSM552868 rs1367891668 |
1068 | P>S | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
CA7137208 rs746972256 |
1069 | W>* | No |
ClinGen ExAC gnomAD |
|
CA7137206 rs771003469 |
1069 | W>R | No |
ClinGen ExAC gnomAD |
|
CA7137207 rs774376183 |
1069 | W>S | No |
ClinGen ExAC gnomAD |
|
CA7137209 rs768548181 |
1070 | D>E | No |
ClinGen ExAC gnomAD |
|
CA389299839 rs1247304389 |
1070 | D>G | No |
ClinGen gnomAD |
|
CA7137210 rs776355044 |
1071 | G>R | No |
ClinGen ExAC gnomAD |
|
rs1594742784 CA389299878 |
1073 | A>P | No |
ClinGen Ensembl |
|
rs764882157 CA7137212 |
1075 | C>F | No |
ClinGen ExAC gnomAD |
|
CA389299910 rs1210574471 |
1076 | Q>H | No |
ClinGen TOPMed |
|
CA389299913 rs1466166398 |
1077 | Q>* | No |
ClinGen TOPMed gnomAD |
|
TCGA novel | 1077 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA389299911 rs1466166398 |
1077 | Q>K | No |
ClinGen TOPMed gnomAD |
|
CA389299918 rs1206614625 |
1077 | Q>P | No |
ClinGen gnomAD |
|
rs772918278 CA7137213 |
1078 | V>F | No |
ClinGen ExAC gnomAD |
|
rs772918278 CA389299924 |
1078 | V>I | No |
ClinGen ExAC gnomAD |
|
rs1230599282 CA389299970 |
1081 | H>Q | No |
ClinGen TOPMed |
|
CA7137214 rs762649803 |
1081 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs766007033 CA7137215 |
1082 | L>V | No |
ClinGen ExAC gnomAD |
|
CA7137216 rs1555327405 |
1083 | A>T | No |
ClinGen Ensembl |
|
rs1159212704 CA389300073 |
1087 | I>V | No |
ClinGen gnomAD |
|
CA7137220 rs768137051 |
1089 | S>R | No |
ClinGen ExAC gnomAD |
|
CA7137221 rs753065638 |
1090 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 1092 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA7137224 rs777933278 |
1093 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
CA7137225 rs777933278 |
1093 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA7137223 rs777933278 |
1093 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs1332450351 CA389300273 |
1093 | A>V | No |
ClinGen gnomAD |
|
TCGA novel | 1095 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1290236798 CA389300361 |
1097 | F>L | No |
ClinGen gnomAD |
|
CA257937443 rs1002469716 |
1098 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
rs1037850729 CA257937453 |
1101 | M>I | No |
ClinGen TOPMed |
|
rs768638091 CA389300519 |
1101 | M>R | No |
ClinGen ExAC gnomAD |
|
rs768638091 CA7137228 |
1101 | M>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
CA389300533 rs1260061434 |
1102 | D>Y | No |
ClinGen gnomAD |
|
rs978928175 CA257937468 |
1103 | S>C | No |
ClinGen TOPMed gnomAD |
|
CA257937457 rs978928175 |
1103 | S>Y | No |
ClinGen TOPMed gnomAD |
|
CA389300623 rs1249413610 |
1105 | R>G | No |
ClinGen TOPMed |
|
CA257937471 rs926094830 |
1105 | R>K | No |
ClinGen TOPMed |
|
rs1201900439 CA389300646 |
1106 | D>N | No |
ClinGen gnomAD |
|
CA7137229 rs374795039 |
1106 | D>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA7137230 rs747966365 |
1107 | A>V | No |
ClinGen ExAC gnomAD |
|
rs912019927 CA257937475 |
1108 | I>L | No |
ClinGen TOPMed gnomAD |
|
CA389300769 rs1218754019 |
1110 | D>Y | No |
ClinGen TOPMed |
|
rs575552934 CA7137232 |
1111 | Y>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs575552934 CA389300811 |
1111 | Y>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA257937480 rs1025809274 |
1111 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
rs1378657283 CA389300890 |
1113 | A>V | No |
ClinGen gnomAD |
|
rs1467903297 CA389300918 |
1114 | L>P | No |
ClinGen gnomAD |
|
CA7137234 rs770679930 |
1115 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
CA389300960 rs1375092883 |
1116 | G>D | No |
ClinGen gnomAD |
|
rs1270672055 CA389300978 |
1117 | P>H | No |
ClinGen gnomAD |
|
rs370097904 CA7137235 |
1120 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1310053404 CA389301077 |
1120 | S>R | No |
ClinGen gnomAD |
|
TCGA novel | 1122 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA7137236 rs372429210 |
1124 | Q>R | No |
ClinGen ESP ExAC gnomAD |
|
CA389301318 rs1410770300 |
1126 | P>L | No |
ClinGen TOPMed |
|
rs766882927 CA7137237 |
1126 | P>S | No |
ClinGen ExAC gnomAD |
|
rs1367536972 CA389301333 |
1127 | D>G | No |
ClinGen TOPMed |
|
rs753252556 CA7137238 |
1128 | W>R | No |
ClinGen ExAC gnomAD |
|
rs1235175219 CA389301397 |
1129 | Q>H | No |
ClinGen TOPMed gnomAD |
|
rs761047114 CA7137239 |
1129 | Q>K | No |
ClinGen ExAC gnomAD |
|
rs1277987028 CA389301552 |
1133 | E>A | No |
ClinGen TOPMed gnomAD |
|
CA7137241 rs754180089 |
1136 | E>G | No |
ClinGen ExAC gnomAD |
|
COSM1188790 CA7137240 rs764543033 |
1136 | E>K | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
rs1479377888 CA389301682 |
1137 | A>T | No |
ClinGen gnomAD |
|
CA257937516 rs921155963 |
1141 | L>Q | No |
ClinGen Ensembl |
|
rs1594742928 CA389301821 |
1142 | K>N | No |
ClinGen Ensembl |
|
rs1435373180 CA389301824 |
1143 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
rs779092068 CA7137243 |
1143 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA7137244 rs750586325 |
1144 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1368877167 CA389301899 |
1147 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
CA7137245 rs758476040 |
1147 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1594742947 CA389302030 |
1151 | L>M | No |
ClinGen Ensembl |
|
rs1294141363 CA389302065 |
1152 | M>I | No |
ClinGen gnomAD |
|
rs779954505 CA7137246 |
1152 | M>K | No |
ClinGen ExAC TOPMed gnomAD |
|
rs779954505 CA389302057 |
1152 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1478003248 CA389302084 |
1153 | A>G | No |
ClinGen gnomAD |
|
CA389302077 rs1594742962 |
1153 | A>S | No |
ClinGen Ensembl |
|
CA389302089 rs1478003248 |
1153 | A>V | No |
ClinGen gnomAD |
|
CA389302124 rs1369795736 |
1154 | P>L | No |
ClinGen gnomAD |
|
rs1388492774 CA389302172 |
1156 | S>F | No |
ClinGen gnomAD |
|
rs200952720 CA7137247 |
1157 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1276336110 CA389302241 |
1159 | P>S | No |
ClinGen gnomAD |
|
rs777661158 CA7137249 |
1161 | R>C | Variant assessed as Somatic; 4.798e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs777661158 CA389302302 |
1161 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs749094268 CA7137250 |
1161 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA389302373 rs1330955302 |
1164 | V>M | No |
ClinGen TOPMed |
|
CA7137253 rs759198850 |
1166 | V>M | No |
ClinGen ExAC gnomAD |
|
rs774816011 CA7137255 |
1169 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
rs764502613 CA7137257 |
1172 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
COSM1135558 rs764502613 CA389302591 |
1172 | T>M | kidney Variant assessed as Somatic; 4.663e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
TCGA novel | 1173 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA389302646 rs1165717119 |
1175 | L>H | No |
ClinGen gnomAD |
|
CA7137260 rs765518334 |
1181 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
CA389302937 rs376021092 |
1184 | H>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA7137262 rs376021092 |
1184 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs574649411 CA389302951 |
1185 | P>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes NCI-TCGA TOPMed gnomAD |
rs574649411 CA257937567 |
1185 | P>L | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
rs1454655839 CA389302948 |
1185 | P>S | No |
ClinGen Ensembl |
|
CA389302945 rs1454655839 |
1185 | P>T | No |
ClinGen Ensembl |
|
rs1386059842 CA389302962 |
1186 | I>V | No |
ClinGen gnomAD |
|
CA7137263 rs763317583 |
1187 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1359575549 CA389303002 |
1187 | A>V | No |
ClinGen TOPMed gnomAD |
|
rs1213668544 CA389303053 |
1189 | T>S | No |
ClinGen gnomAD |
|
CA7137264 rs751558441 |
1192 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
CA257937573 rs982492930 |
1192 | P>S | No |
ClinGen TOPMed |
|
CA7137267 rs749183752 |
1195 | P>R | No |
ClinGen ExAC |
|
CA7137266 rs777841839 |
1195 | P>S | No |
ClinGen ExAC gnomAD |
|
CA389303253 rs1465707202 |
1196 | D>G | No |
ClinGen TOPMed gnomAD |
|
rs1465707202 CA389303250 |
1196 | D>V | No |
ClinGen TOPMed gnomAD |
|
rs1401905902 CA389303315 |
1198 | E>G | No |
ClinGen TOPMed gnomAD |
|
rs766822337 CA7137270 |
1202 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA389303531 rs369114620 |
1205 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA7137271 rs369114620 |
1205 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA7137272 rs775107719 |
1206 | G>R | No |
ClinGen ExAC gnomAD |
|
rs1416151635 COSM1188791 CA389303563 |
1206 | G>V | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
rs746486708 CA389303601 |
1207 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1022604616 CA257937601 |
1209 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
CA7137274 rs768152222 |
1210 | Y>C | No |
ClinGen ExAC gnomAD |
|
rs1417104418 CA389303683 |
1211 | A>D | No |
ClinGen TOPMed gnomAD |
|
rs929464277 CA257937605 |
1214 | W>L | No |
ClinGen TOPMed gnomAD |
|
CA7137275 rs777127282 |
1215 | A>T | No |
ClinGen ExAC gnomAD |
|
CA389303738 rs1566487599 |
1216 | L>F | No |
ClinGen Ensembl |
|
TCGA novel | 1217 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs762266975 CA7137276 |
1217 | K>R | No |
ClinGen ExAC gnomAD |
|
rs1047918223 CA257937615 |
1218 | H>Y | No |
ClinGen TOPMed |
|
rs376334971 CA7137278 |
1221 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA7137279 rs763274425 COSM1470664 |
1221 | R>H | prostate [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
CA389303830 rs763274425 |
1221 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1007988240 CA257937618 |
1223 | I>T | No |
ClinGen TOPMed gnomAD |
|
rs1267711099 CA389303869 |
1223 | I>V | No |
ClinGen gnomAD |
|
CA389303926 rs1566487628 |
1226 | T>A | No |
ClinGen Ensembl |
|
CA7137282 rs751722096 |
1226 | T>S | No |
ClinGen ExAC gnomAD |
|
rs755029945 CA257937624 |
1227 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs755029945 CA7137283 |
1227 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1167957806 CA389303979 |
1228 | V>M | No |
ClinGen TOPMed |
|
CA389304016 rs1211175026 |
1229 | V>A | No |
ClinGen gnomAD |
|
rs757212524 CA7137286 |
1231 | D>H | No |
ClinGen ExAC gnomAD |
|
CA389304079 rs1187463482 |
1232 | L>H | No |
ClinGen gnomAD |
|
CA7137287 rs778901743 |
1233 | S>C | No |
ClinGen ExAC gnomAD |
|
rs1473610709 CA389304190 |
1236 | S>F | No |
ClinGen gnomAD |
|
rs1391536662 CA389304207 |
1237 | R>P | No |
ClinGen TOPMed |
|
CA257937639 rs996683229 |
1237 | R>W | No |
ClinGen TOPMed gnomAD |
|
CA7137288 rs144623810 |
1238 | T>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA257937661 rs377707810 |
1240 | A>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA7137289 rs138467096 |
1240 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA7137290 rs377707810 |
1240 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs982221075 CA257937667 |
1242 | P>S | No |
ClinGen TOPMed |
|
CA7137292 rs768081201 |
1243 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1350631470 CA389304361 |
1244 | V>M | No |
ClinGen gnomAD |
|
CA7137295 rs368016452 |
1245 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
rs375519821 CA7137293 |
1245 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA7137297 rs531016898 |
1248 | R>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs542139168 CA7137298 |
1248 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
TCGA novel | 1248 | R>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs759768969 CA7137300 |
1250 | V>D | No |
ClinGen ExAC gnomAD |
|
rs774445013 CA7137299 |
1250 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
rs767728039 CA7137301 |
1253 | A>S | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 1253 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA7137302 rs752803644 |
1257 | R>* | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 1257 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA389304757 rs1396822878 |
1258 | W>* | No |
ClinGen TOPMed |
|
CA389304770 rs1231127749 |
1258 | W>C | No |
ClinGen gnomAD |
|
rs761883672 CA7137303 |
1261 | L>S | No |
ClinGen ExAC gnomAD |
|
rs777966712 CA257937706 |
1263 | Q>R | No |
ClinGen Ensembl |
|
rs1307157884 CA389304932 |
1264 | D>E | No |
ClinGen TOPMed |
|
CA389304928 rs1403155011 |
1264 | D>V | No |
ClinGen TOPMed gnomAD |
|
CA257937710 rs753256579 |
1265 | K>N | No |
ClinGen Ensembl |
|
CA389305073 rs1191670919 |
1267 | K>M | No |
ClinGen gnomAD |
|
rs765263797 CA7137304 |
1268 | R>G | No |
ClinGen ExAC gnomAD |
|
CA7137305 rs750315913 |
1268 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
CA389305124 rs1172636437 |
1269 | A>D | No |
ClinGen gnomAD |
|
TCGA novel | 1269 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs751192692 CA7137308 |
1274 | L>F | No |
ClinGen ExAC |
|
TCGA novel | 1274 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1472146683 CA389305296 |
1275 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
CA389305353 rs1277118098 |
1276 | Q>* | No |
ClinGen gnomAD |
|
CA389305407 rs778158529 |
1277 | G>D | No |
ClinGen ExAC gnomAD |
|
rs371855060 CA7137312 |
1277 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA7137313 rs778158529 |
1277 | G>V | No |
ClinGen ExAC gnomAD |
|
rs759726589 CA7137318 |
1281 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
CA389305569 rs1594743213 |
1282 | N>T | No |
ClinGen Ensembl |
|
CA7137319 rs374730919 |
1283 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
rs775781760 CA7137320 |
1283 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs775781760 CA257937741 |
1283 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA7137323 rs750357738 |
1286 | T>I | No |
ClinGen ExAC gnomAD |
|
CA389305695 rs1594743226 |
1286 | T>P | No |
ClinGen Ensembl |
|
rs766132981 CA389305761 |
1288 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs766132981 CA7137325 |
1288 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA7137326 rs751334932 |
1288 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA389305777 rs1298862850 |
1289 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
CA7137328 rs780807825 |
1290 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
CA7137329 rs752292028 |
1291 | M>I | No |
ClinGen ExAC gnomAD |
|
CA389305847 rs1269811568 |
1292 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
CA7137331 rs755628226 |
1293 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA7137330 rs755628226 |
1293 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 1293 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA389305962 rs1211641539 |
1296 | Q>R | No |
ClinGen gnomAD |
|
rs749786689 CA7137332 |
1297 | V>L | No |
ClinGen ExAC gnomAD |
|
rs189972799 CA7137333 |
1299 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1013940453 CA257937774 |
1301 | F>L | No |
ClinGen Ensembl |
|
rs1594743260 CA389306136 |
1303 | D>A | No |
ClinGen Ensembl |
|
rs772483093 CA7137336 |
1306 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
CA7137339 rs768878706 COSM955077 |
1308 | V>I | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
CA389306274 rs1450372895 |
1309 | C>S | No |
ClinGen TOPMed |
|
CA389306351 rs1594743286 |
1311 | H>Q | No |
ClinGen Ensembl |
|
rs758082819 CA7137340 |
1313 | S>L | No |
ClinGen ExAC gnomAD |
|
rs758082819 CA389306395 |
1313 | S>W | No |
ClinGen ExAC gnomAD |
|
CA257937791 rs746836385 |
1315 | Y>H | No |
ClinGen Ensembl |
|
rs768509689 CA257937796 |
1316 | C>Y | No |
ClinGen TOPMed gnomAD |
|
rs766332432 CA7137342 |
1319 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA257937805 rs776363411 |
1319 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA7137343 COSM1515302 rs776363411 |
1319 | R>L | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
TCGA novel | 1322 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA389306612 rs1291572216 |
1324 | C>F | No |
ClinGen gnomAD |
|
TCGA novel | 1325 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA389306736 rs1594743315 |
1330 | Y>C | No |
ClinGen Ensembl |
|
rs1261230206 CA389306808 |
1333 | S>L | No |
ClinGen gnomAD |
|
rs1594743328 CA389306830 |
1334 | P>L | No |
ClinGen Ensembl |
|
CA389306880 rs763566221 |
1336 | S>R | No |
ClinGen ExAC gnomAD |
|
rs371735612 CA7137349 |
1337 | P>S | Variant assessed as Somatic; 9.289e-05 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
rs757771394 CA7137350 |
1338 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
CA389306909 rs757771394 |
1338 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1458477475 CA389306985 |
1341 | L>H | No |
ClinGen TOPMed |
|
CA389306991 rs1458477475 |
1341 | L>P | No |
ClinGen TOPMed |
|
CA7137353 rs746309161 |
1343 | F>L | No |
ClinGen ExAC gnomAD |
|
rs371099138 CA257937830 |
1347 | P>S | No |
ClinGen Ensembl |
|
rs538061448 CA7137354 COSM469871 |
1349 | T>M | kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
rs1403335446 CA389307148 |
1349 | T>S | No |
ClinGen gnomAD |
|
CA389307161 rs1182065331 |
1350 | P>A | No |
ClinGen gnomAD |
|
rs1367580334 CA389307173 |
1351 | T>A | No |
ClinGen TOPMed gnomAD |
|
rs1464448323 CA389307188 |
1351 | T>I | No |
ClinGen TOPMed |
|
CA7137356 rs747284202 |
1352 | Y>F | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 1352 | Y>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1594743381 CA389307252 |
1354 | H>P | No |
ClinGen Ensembl |
|
CA389307331 rs1318611091 |
1358 | V>M | No |
ClinGen TOPMed gnomAD |
|
rs748243389 CA257937848 |
1359 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs748243389 CA7137359 |
1359 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1363903002 CA389307399 |
1361 | G>D | No |
ClinGen TOPMed |
|
rs375921086 CA7137361 |
1361 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
rs775248149 CA7137364 |
1364 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA7137365 rs760361213 |
1364 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
rs763798922 CA389307475 |
1365 | F>I | No |
ClinGen ExAC TOPMed gnomAD |
|
CA7137366 rs763798922 |
1365 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1566487942 CA389307482 |
1365 | F>S | No |
ClinGen Ensembl |
|
rs1333950974 CA389307499 |
1366 | G>A | No |
ClinGen TOPMed |
|
CA7137367 rs753348018 |
1366 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1417909153 CA389307508 |
1367 | Q>* | No |
ClinGen gnomAD |
|
rs1413068964 CA389307513 |
1367 | Q>R | No |
ClinGen TOPMed |
|
rs756807669 CA7137368 |
1369 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA389307565 rs1436957771 |
1371 | P>L | No |
ClinGen gnomAD |
|
CA389307586 rs1594743421 |
1373 | V>G | No |
ClinGen Ensembl |
|
TCGA novel | 1375 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1172024548 CA389307605 |
1375 | L>V | No |
ClinGen gnomAD |
|
rs1174897194 CA389307623 |
1376 | T>I | No |
ClinGen TOPMed |
|
rs1430520110 CA389307644 |
1378 | C>Y | No |
ClinGen TOPMed gnomAD |
|
rs1190557127 CA389307651 |
1379 | N>D | No |
ClinGen TOPMed |
|
rs758950621 CA7137371 |
1379 | N>S | No |
ClinGen ExAC gnomAD |
|
rs1306184420 CA389307715 |
1384 | L>F | No |
ClinGen gnomAD |
|
CA7137374 rs755209903 |
1387 | E>K | No |
ClinGen ExAC gnomAD |
|
rs568146265 CA7137375 |
1391 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1329768082 CA389307868 |
1391 | L>H | No |
ClinGen gnomAD |
|
CA7137376 rs748250487 |
1392 | W>* | No |
ClinGen ExAC gnomAD |
|
rs951006953 CA257937898 |
1394 | A>S | No |
ClinGen TOPMed |
|
rs769950057 CA7137377 |
1395 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA257937901 rs773467592 |
1395 | R>W | No |
ClinGen gnomAD |
|
CA7137378 rs777784917 |
1396 | G>V | No |
ClinGen ExAC gnomAD |
|
rs1192101541 CA389307951 |
1397 | F>L | No |
ClinGen gnomAD |
|
CA389307986 rs1294809348 |
1399 | S>F | No |
ClinGen TOPMed |
|
CA7137379 rs374418928 |
1404 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs1394728713 CA389308073 |
1404 | P>S | No |
ClinGen gnomAD |
|
CA7137380 rs771970441 |
1405 | L>I | No |
ClinGen ExAC gnomAD |
|
CA389308135 rs1461494086 |
1407 | H>P | No |
ClinGen gnomAD |
|
CA389308139 rs1461494086 |
1407 | H>R | No |
ClinGen gnomAD |
|
CA7137382 rs760506948 |
1408 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs768279369 CA7137383 |
1413 | Y>H | No |
ClinGen ExAC gnomAD |
|
rs1442856086 CA389308273 |
1414 | I>V | No |
ClinGen TOPMed gnomAD |
|
rs1301037438 CA389308301 |
1415 | I>T | No |
ClinGen gnomAD |
|
CA389308321 rs1369939998 |
1416 | S>Y | No |
ClinGen gnomAD |
|
rs1214868529 CA389308332 |
1417 | L>F | No |
ClinGen gnomAD |
|
rs1445355696 CA389308355 |
1418 | T>I | No |
ClinGen TOPMed |
|
CA389308344 rs1594743494 |
1418 | T>P | No |
ClinGen Ensembl |
|
rs376235359 CA257937919 |
1419 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA7137385 rs376235359 |
1419 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA389308371 rs1594743504 |
1419 | S>P | No |
ClinGen Ensembl |
|
rs764887892 CA7137386 |
1420 | G>D | No |
ClinGen ExAC gnomAD |
|
rs1313842556 CA389308469 |
1424 | L>F | No |
ClinGen TOPMed |
|
CA7137388 rs375065906 |
1425 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs752053594 CA7137390 |
1426 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1433867727 CA389308556 |
1428 | Y>C | No |
ClinGen Ensembl |
|
rs1317282176 CA389308566 |
1429 | R>* | No |
ClinGen gnomAD |
|
CA389308568 COSM955081 rs1252835429 |
1429 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
rs202118734 CA7137392 |
1433 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA7137393 rs752986848 |
1433 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
COSM163044 rs202118734 CA7137391 |
1433 | R>W | breast [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
CA389308625 rs1428024988 |
1434 | G>C | No |
ClinGen gnomAD |
|
CA389308621 rs1428024988 |
1434 | G>S | No |
ClinGen gnomAD |
|
rs1420081006 CA389308644 |
1435 | S>F | No |
ClinGen TOPMed gnomAD |
|
TCGA novel | 1436 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs749370580 CA7137397 |
1438 | A>S | No |
ClinGen ExAC gnomAD |
|
rs779983688 CA7137399 |
1439 | V>E | No |
ClinGen ExAC |
|
rs746856903 CA7137400 |
1443 | T>I | No |
ClinGen ExAC gnomAD |
|
rs746856903 CA389308743 |
1443 | T>N | No |
ClinGen ExAC gnomAD |
|
rs1359380799 CA389308771 |
1446 | K>M | No |
ClinGen gnomAD |
|
rs1381185758 CA389308786 |
1448 | G>A | No |
ClinGen gnomAD |
|
rs1196783032 CA389308784 |
1448 | G>S | No |
ClinGen gnomAD |
|
CA389308797 rs1254996588 |
1450 | Q>* | No |
ClinGen gnomAD |
|
CA389308829 rs769561880 |
1452 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
rs761563648 CA7137403 |
1452 | G>S | No |
ClinGen ExAC gnomAD |
|
CA7137404 rs769561880 |
1452 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1317901011 CA389308872 |
1455 | W>* | No |
ClinGen gnomAD |
|
CA389308883 rs1218333404 |
1456 | W>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
rs1240600586 CA389308893 |
1456 | W>C | No |
ClinGen gnomAD |
|
CA7137405 rs143110133 |
1458 | L>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA389308950 rs1188878801 |
1459 | P>L | No |
ClinGen gnomAD |
|
TCGA novel | 1459 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA7137406 rs762564564 |
1460 | K>E | No |
ClinGen ExAC gnomAD |
|
rs765919110 CA7137407 |
1460 | K>R | No |
ClinGen ExAC gnomAD |
|
CA389309031 rs1162723295 |
1463 | P>A | No |
ClinGen gnomAD |
|
CA389309045 rs1385312926 |
1463 | P>L | No |
ClinGen gnomAD |
|
rs752136494 CA7137408 |
1464 | A>V | No |
ClinGen ExAC gnomAD |
|
rs1409541674 CA389309103 |
1467 | V>M | No |
ClinGen TOPMed |
|
CA257937999 rs1009865264 |
1469 | P>L | No |
ClinGen TOPMed |
|
rs1452656617 CA389309159 |
1469 | P>S | No |
ClinGen gnomAD |
|
rs752973891 CA7137411 |
1470 | H>Y | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 1471 | A>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA7137412 rs756426464 |
1471 | A>G | No |
ClinGen ExAC gnomAD |
|
CA389309198 rs1356831029 |
1471 | A>T | No |
ClinGen gnomAD |
|
CA389309244 rs1374620697 |
1472 | M>I | No |
ClinGen gnomAD |
|
rs777963123 CA7137413 |
1472 | M>V | No |
ClinGen ExAC gnomAD |
|
COSM3690049 rs199709655 CA7137414 |
1476 | P>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
rs1042301209 CA257938009 |
1476 | P>T | No |
ClinGen TOPMed |
|
CA7137415 rs544959631 |
1477 | N>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs1003361620 CA257938021 |
1477 | N>Y | No |
ClinGen TOPMed gnomAD |
|
CA7137417 CA389309368 rs778926553 |
1478 | L>F | No |
ClinGen ExAC gnomAD |
|
rs1282672590 CA389309375 |
1479 | L>M | No |
ClinGen gnomAD |
|
CA389309395 rs1484736195 |
1480 | A>T | No |
ClinGen gnomAD |
|
CA389309427 rs1236858889 |
1481 | L>S | No |
ClinGen gnomAD |
|
CA389309452 rs1171815729 |
1482 | Q>R | No |
ClinGen TOPMed gnomAD |
|
rs781103975 CA7137419 |
1484 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
CA257938030 rs558626844 |
1487 | T>N | No |
ClinGen 1000Genomes |
|
rs1594743662 CA389309538 |
1487 | T>P | No |
ClinGen Ensembl |
|
rs747882266 CA7137420 |
1489 | A>S | No |
ClinGen ExAC gnomAD |
|
CA7137424 rs770589936 |
1490 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs773713380 CA7137425 |
1491 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA389309648 rs1432349637 |
1492 | I>V | No |
ClinGen gnomAD |
|
rs377683697 CA7137426 CA257938047 |
1494 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1373075048 CA389309789 |
1498 | G>E | No |
ClinGen gnomAD |
|
rs761045897 CA7137429 CA389309780 |
1498 | G>R | No |
ClinGen ExAC gnomAD |
|
rs754093809 CA7137431 |
1500 | K>I | No |
ClinGen ExAC gnomAD |
|
CA7137434 rs750461863 |
1503 | G>V | No |
ClinGen ExAC gnomAD |
|
CA389309914 rs1367469425 |
1504 | S>F | No |
ClinGen TOPMed |
|
rs1439629034 CA389309905 |
1504 | S>P | No |
ClinGen TOPMed gnomAD |
|
CA7137435 rs367917534 |
1506 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA7137436 rs367917534 |
1506 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA389309963 rs1438887159 |
1508 | S>G | No |
ClinGen gnomAD |
|
CA389310000 rs756003908 |
1509 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
CA7137438 rs756003908 |
1509 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
CA7137440 rs748999477 |
1512 | N>T | No |
ClinGen ExAC gnomAD |
|
rs1295585274 CA389310081 |
1513 | S>L | No |
ClinGen Ensembl |
|
CA7137441 rs770677942 |
1515 | S>G | No |
ClinGen ExAC gnomAD |
|
rs1411099883 CA389310128 |
1515 | S>R | No |
ClinGen gnomAD |
|
CA7137445 rs775869293 |
1517 | D>G | No |
ClinGen ExAC gnomAD |
|
CA7137444 rs767958088 |
1517 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
TCGA novel | 1519 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA7137446 rs761134037 |
1519 | E>K | No |
ClinGen ExAC gnomAD |
|
CA7137447 rs764468087 |
1521 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1270977150 CA389310288 |
1522 | L>Q | No |
ClinGen gnomAD |
|
rs200445194 CA7137448 |
1522 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA7137451 COSM955082 rs750601148 |
1523 | L>F | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
rs1566488242 CA389310300 |
1523 | L>R | No |
ClinGen Ensembl |
|
CA7137453 rs766440814 |
1524 | M>I | No |
ClinGen ExAC gnomAD |
|
rs758411500 CA7137452 |
1524 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs368652110 CA389310363 |
1526 | K>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA7137454 rs368652110 |
1526 | K>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA389310399 rs1207780570 |
1528 | D>N | No |
ClinGen TOPMed |
|
CA389310436 rs1594743772 |
1529 | K>T | No |
ClinGen Ensembl |
|
CA7137457 rs753683004 |
1530 | K>Q | No |
ClinGen ExAC gnomAD |
|
CA389310503 rs1476128648 |
1532 | R>K | No |
ClinGen gnomAD |
|
CA389310532 rs1165606503 |
1533 | V>A | No |
ClinGen gnomAD |
|
rs778448529 CA7137459 |
1534 | W>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA389310611 rs1167734594 |
1537 | P>L | No |
ClinGen TOPMed gnomAD |
|
CA389310616 rs1167734594 |
1537 | P>R | No |
ClinGen TOPMed gnomAD |
|
rs560584806 CA257938101 |
1538 | T>A | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
COSM955084 rs1386496520 CA389310637 |
1538 | T>M | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
CA7137464 rs769144777 |
1541 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA7137463 rs532149352 |
1541 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs112761553 CA257938112 |
1542 | R>K | No |
ClinGen Ensembl |
|
TCGA novel | 1543 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1335539420 CA389310736 |
1543 | D>Y | No |
ClinGen gnomAD |
|
CA7137467 rs770129632 |
1547 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
rs552174983 CA7137468 |
1550 | D>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA389310904 rs1261923874 |
1551 | I>T | No |
ClinGen gnomAD |
|
rs17103672 VAR_037861 CA7137469 |
1551 | I>V | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA7137472 rs751661409 |
1555 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs760763027 CA7137473 |
1555 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
CA389311026 rs1159558262 |
1557 | Q>* | No |
ClinGen gnomAD |
|
rs764115157 CA7137475 |
1559 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
rs764115157 CA7137474 |
1559 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA7137477 rs778733327 |
1560 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs750069211 CA7137478 |
1561 | E>D | No |
ClinGen ExAC gnomAD |
|
rs1416629255 CA389311127 |
1561 | E>K | No |
ClinGen TOPMed gnomAD |
|
rs758049675 CA7137479 |
1563 | Y>C | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 1564 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA389311214 rs1187340946 |
1564 | K>R | No |
ClinGen TOPMed |
|
TCGA novel | 1564 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs779603320 CA7137480 |
1565 | K>* | No |
ClinGen ExAC gnomAD |
|
CA389311281 rs1261134700 |
1565 | K>N | No |
ClinGen TOPMed gnomAD |
|
CA7137481 rs746506554 |
1567 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
COSM955086 rs769142864 CA257938155 |
1567 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
rs769142864 CA257938158 |
1567 | R>L | No |
ClinGen TOPMed gnomAD |
|
CA389311422 rs1485729905 |
1570 | G>E | No |
ClinGen gnomAD |
|
rs1254746125 CA389311459 |
1571 | W>* | No |
ClinGen gnomAD |
|
rs531468217 CA7137484 |
1573 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1365967174 CA389311559 |
1576 | Q>H | No |
ClinGen gnomAD |
|
CA389311568 rs1566488365 |
1577 | E>Q | No |
ClinGen Ensembl |
|
CA7137486 rs773603303 |
1581 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1003476713 CA257938168 |
1581 | D>V | No |
ClinGen TOPMed |
|
rs771182311 CA7137488 |
1582 | Y>F | No |
ClinGen ExAC gnomAD |
|
CA389311701 rs1178823625 |
1583 | C>R | No |
ClinGen TOPMed gnomAD |
|
rs774630777 CA257938178 |
1583 | C>W | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 1584 | R>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1296483420 CA389311811 |
1587 | L>F | No |
ClinGen TOPMed |
|
CA389311817 rs1395451022 |
1588 | F>L | No |
ClinGen gnomAD |
|
rs764692390 CA7137492 |
1591 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
rs764692390 CA389311889 |
1591 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA7137493 rs199717611 |
1592 | R>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA7137494 rs545743634 |
1592 | R>Q | No |
ClinGen ExAC gnomAD |
|
CA389311956 rs1212537633 |
1595 | I>T | No |
ClinGen gnomAD |
|
rs533737076 CA7137498 |
1597 | S>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs749999800 CA7137499 |
1598 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA7137500 rs780632124 |
1599 | L>F | No |
ClinGen ExAC gnomAD |
|
rs1436464254 CA389312149 |
1604 | S>A | No |
ClinGen gnomAD |
|
rs756612498 CA7137502 |
1605 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1172003209 CA389312198 |
1606 | W>* | No |
ClinGen gnomAD |
|
TCGA novel | 1607 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 1608 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA389312274 rs1594743933 |
1610 | S>A | No |
ClinGen Ensembl |
|
rs758029753 CA257938216 |
1610 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
rs1594743939 CA389312294 |
1611 | T>P | No |
ClinGen Ensembl |
|
TCGA novel | 1612 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
COSM432973 rs746050976 CA7137507 |
1615 | S>L | Variant assessed as Somatic; 4.643e-05 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
CA389312382 rs746050976 |
1615 | S>W | No |
ClinGen ExAC TOPMed gnomAD |
|
CA7137509 rs775691938 |
1616 | N>S | No |
ClinGen ExAC |
|
CA389312446 rs1225792345 |
1619 | I>F | No |
ClinGen gnomAD |
|
rs765204240 CA7137511 |
1620 | E>K | No |
ClinGen ExAC gnomAD |
|
rs765204240 CA389312476 |
1620 | E>Q | No |
ClinGen ExAC gnomAD |
|
rs1594743966 CA389312511 |
1621 | V>G | No |
ClinGen Ensembl |
|
CA389312503 rs1328089429 |
1621 | V>L | No |
ClinGen TOPMed gnomAD |
|
rs772962674 CA7137512 |
1622 | V>M | No |
ClinGen ExAC gnomAD |
|
rs762806768 CA7137513 |
1624 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
rs1341645747 CA389312635 |
1626 | T>I | No |
ClinGen TOPMed |
|
rs369343954 CA389312640 |
1627 | I>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA7137516 rs369343954 |
1627 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
TCGA novel CA389312699 rs779512856 |
1628 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC TOPMed gnomAD NCI-TCGA |
CA7137518 rs752248841 |
1630 | E>K | No |
ClinGen ExAC gnomAD |
|
rs752248841 CA389312723 |
1630 | E>Q | No |
ClinGen ExAC gnomAD |
|
CA7137520 rs189237524 |
1636 | L>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
TCGA novel | 1638 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 1638 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1429231617 CA389312986 |
1639 | A>G | No |
ClinGen gnomAD |
|
CA257938248 rs868474525 |
1641 | P>S | No |
ClinGen gnomAD |
|
rs868474525 CA389313027 |
1641 | P>T | No |
ClinGen gnomAD |
|
TCGA novel | 1643 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA7137522 rs757731670 |
1643 | T>N | No |
ClinGen ExAC gnomAD |
|
rs1394955245 CA389313102 |
1644 | R>K | No |
ClinGen TOPMed gnomAD |
|
CA389313108 rs1394955245 |
1644 | R>T | No |
ClinGen TOPMed gnomAD |
|
rs746145131 CA7137524 |
1645 | W>* | No |
ClinGen ExAC gnomAD |
|
rs1594744011 CA389313150 |
1646 | V>G | No |
ClinGen Ensembl |
|
rs1366412437 CA389313139 |
1646 | V>M | No |
ClinGen gnomAD |
|
rs913013921 CA257938259 |
1648 | A>G | No |
ClinGen TOPMed |
|
rs913013921 CA389313180 |
1648 | A>V | No |
ClinGen TOPMed |
|
CA7137526 rs368787980 |
1649 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1040074365 CA257938265 |
1650 | P>S | No |
ClinGen Ensembl |
|
rs191929972 CA7137529 |
1653 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs191929972 CA389313272 |
1653 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1307765782 CA389313297 |
1654 | Y>C | No |
ClinGen Ensembl |
|
CA7137532 rs766210479 |
1654 | Y>H | No |
ClinGen ExAC |
|
CA7137533 rs201409522 |
1657 | T>M | Variant assessed as Somatic; 4.642e-05 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
rs767145009 CA7137535 |
1658 | A>T | No |
ClinGen ExAC gnomAD |
|
rs752235850 CA7137536 |
1663 | L>M | No |
ClinGen ExAC |
|
rs1261198000 CA389313636 |
1671 | W>* | No |
ClinGen gnomAD |
|
rs763472495 CA7137538 |
1671 | W>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA389313638 rs1261198000 |
1671 | W>S | No |
ClinGen gnomAD |
|
CA389313738 rs1418431453 |
1676 | R>K | No |
ClinGen gnomAD |
|
CA389313756 rs1462836405 |
1677 | L>V | No |
ClinGen TOPMed gnomAD |
|
CA7137540 rs757821591 |
1678 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
CA389313809 rs1275209338 |
1679 | A>V | No |
ClinGen TOPMed |
|
rs1290260614 CA389313828 |
1680 | A>G | No |
ClinGen gnomAD |
|
CA389313848 rs1594744068 |
1681 | Q>P | No |
ClinGen Ensembl |
|
CA389313879 rs1337793954 |
1682 | G>E | No |
ClinGen gnomAD |
|
rs540426935 CA7137541 |
1684 | Q>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA7137544 rs758775630 |
1687 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA7137543 COSM3814650 rs758775630 |
1687 | R>Q | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
CA7137542 rs528567243 |
1687 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1227071805 CA389313997 |
1688 | H>Y | No |
ClinGen gnomAD |
|
rs532821287 CA7137546 |
1689 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs781109621 CA7137547 |
1690 | L>I | No |
ClinGen ExAC gnomAD |
|
rs1328968980 CA389314060 |
1690 | L>R | No |
ClinGen TOPMed |
|
rs1385680659 CA389314187 |
1696 | A>S | No |
ClinGen TOPMed |
|
rs759341474 CA7137551 |
1700 | Q>H | No |
ClinGen ExAC gnomAD |
|
rs771697081 CA7137552 |
1701 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1411754978 CA389314234 |
1702 | A>V | No |
ClinGen TOPMed |
|
rs376539582 CA7137554 |
1703 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs376539582 CA7137553 |
1703 | S>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA257938332 rs969384970 |
1705 | S>N | No |
ClinGen gnomAD |
|
CA389314274 rs969384970 |
1705 | S>T | No |
ClinGen gnomAD |
|
CA389314292 rs765850035 |
1706 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
rs765850035 CA7137558 |
1706 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA7137557 rs762480375 |
1706 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA389314323 rs1446536675 |
1708 | L>F | No |
ClinGen gnomAD |
|
CA389314340 rs1254950087 |
1709 | Q>* | No |
ClinGen TOPMed |
|
rs1284063044 CA389314376 |
1710 | F>C | No |
ClinGen gnomAD |
|
CA7137560 rs758861483 |
1711 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs750891833 CA7137559 |
1711 | P>S | No |
ClinGen ExAC gnomAD |
|
rs375430981 CA257938342 |
1712 | C>F | No |
ClinGen Ensembl |
|
rs374015737 CA7137561 |
1713 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA7137563 rs755124186 |
1714 | T>A | No |
ClinGen ExAC gnomAD |
|
CA7137565 rs367836472 |
1714 | T>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA7137564 rs367836472 |
1714 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
rs912950166 CA389314527 |
1717 | G>R | No |
ClinGen gnomAD |
|
rs912950166 CA257938356 |
1717 | G>W | No |
ClinGen gnomAD |
|
CA7137568 rs374589341 |
1718 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA257938368 rs374589341 |
1718 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1566488651 CA389314546 |
1718 | A>V | No |
ClinGen Ensembl |
|
rs1173858155 CA389314628 |
1724 | R>K | No |
ClinGen gnomAD |
|
rs771924412 CA7137569 |
1725 | A>D | No |
ClinGen ExAC gnomAD |
|
rs775128958 CA7137570 |
1726 | L>P | No |
ClinGen ExAC gnomAD |
|
CA389316360 rs1441233330 |
1727 | K>R | No |
ClinGen TOPMed |
|
TCGA novel | 1729 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 1732 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1376624354 CA389316460 |
1733 | H>D | No |
ClinGen gnomAD |
|
rs367617198 CA257938386 |
1733 | H>Q | No |
ClinGen Ensembl |
|
rs1441991614 CA389316463 |
1733 | H>R | No |
ClinGen gnomAD |
|
CA389316466 rs1305827739 |
1734 | G>R | No |
ClinGen gnomAD |
|
TCGA novel | 1738 | A>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA7137575 rs200693824 |
1738 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
rs1453092400 CA389316514 |
1740 | S>F | No |
ClinGen TOPMed |
|
CA389316525 rs1594744198 |
1741 | L>Q | No |
ClinGen Ensembl |
|
TCGA novel | 1742 | P>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA389316575 rs1316963054 |
1744 | L>P | No |
ClinGen TOPMed gnomAD |
|
CA7137579 rs751865948 |
1745 | H>Y | No |
ClinGen ExAC gnomAD |
|
rs1248053885 CA389316602 |
1746 | L>V | No |
ClinGen gnomAD |
|
rs1171535380 CA389316613 |
1747 | A>T | No |
ClinGen gnomAD |
|
CA389316621 rs1419567601 |
1747 | A>V | No |
ClinGen gnomAD |
|
CA7137581 rs767647423 |
1749 | R>T | No |
ClinGen ExAC gnomAD |
|
CA389316684 rs1400045513 |
1751 | S>A | No |
ClinGen gnomAD |
|
COSM698063 CA7137583 rs756219353 |
1754 | D>Y | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
rs1005390562 CA257938409 |
1755 | A>V | No |
ClinGen TOPMed |
|
CA389316771 rs1436003325 |
1756 | T>I | No |
ClinGen gnomAD |
|
CA7137585 rs777988787 |
1757 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA389316809 rs1255998637 |
1758 | F>L | No |
ClinGen gnomAD |
|
rs1050695479 CA257938420 |
1759 | K>Q | No |
ClinGen Ensembl |
|
rs901859719 CA257938423 |
1761 | L>V | No |
ClinGen TOPMed |
|
CA7137587 rs779970498 |
1762 | T>S | No |
ClinGen ExAC gnomAD |
|
rs768427936 CA7137589 |
1763 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA389316901 rs1197718669 |
1764 | G>V | No |
ClinGen TOPMed gnomAD |
|
CA7137590 rs776449975 |
1768 | L>F | No |
ClinGen ExAC gnomAD |
|
CA7137591 rs747751902 |
1768 | L>P | No |
ClinGen ExAC gnomAD |
|
rs376323843 CA7137592 |
1769 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA257938436 rs371368027 |
1769 | T>P | No |
ClinGen Ensembl |
|
rs534007372 CA7137594 CA7137595 |
1770 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
CA389317016 rs1165414825 |
1771 | P>L | No |
ClinGen gnomAD |
|
rs1405047712 CA389317037 |
1773 | W>R | No |
ClinGen gnomAD |
|
rs1036951977 CA257938453 |
1774 | W>R | No |
ClinGen Ensembl |
|
CA389317057 rs1594744297 |
1775 | E>G | No |
ClinGen Ensembl |
|
rs759824815 CA389317054 |
1775 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
rs759824815 CA7137597 |
1775 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA389317069 rs1333883969 |
1776 | M>I | No |
ClinGen TOPMed |
|
CA389317080 rs1362540271 |
1778 | S>C | No |
ClinGen gnomAD |
|
CA7137598 rs767829132 |
1779 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1377742103 CA389317099 |
1781 | I>L | No |
ClinGen TOPMed |
|
TCGA novel | 1783 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs200814392 CA7137599 |
1786 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA7137601 rs764202374 |
1788 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA7137603 rs758422413 |
1794 | V>A | No |
ClinGen ExAC gnomAD |
|
rs536726550 CA389317201 |
1796 | E>G | No |
ClinGen Ensembl |
|
CA257938474 rs536726550 |
1796 | E>V | No |
ClinGen Ensembl |
|
CA389317215 rs201902763 |
1799 | E>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA7137607 rs781109193 |
1799 | E>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA7137606 rs201902763 |
1799 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs1002655975 CA257938480 |
1800 | L>I | No |
ClinGen TOPMed |
|
rs1367098407 CA389317246 |
1803 | R>M | No |
ClinGen gnomAD |
|
rs1594744341 CA389317253 |
1804 | V>G | No |
ClinGen Ensembl |
|
rs747839895 CA7137608 |
1805 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA389317261 rs1339608892 |
1806 | D>H | No |
ClinGen TOPMed |
|
CA7137609 rs769564116 |
1808 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs938993023 CA389317288 |
1809 | S>R | No |
ClinGen TOPMed |
|
rs1297702227 CA389317292 |
1810 | E>V | No |
ClinGen gnomAD |
|
TCGA novel | 1812 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs770409484 CA7137612 |
1812 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA7137613 rs774752532 |
1813 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1338493151 CA389317314 |
1813 | E>V | No |
ClinGen gnomAD |
|
rs760041145 CA7137614 |
1814 | N>H | No |
ClinGen ExAC gnomAD |
|
rs1566488892 CA389317323 |
1814 | N>K | No |
ClinGen Ensembl |
|
TCGA novel | 1815 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA389317330 rs1355473794 |
1815 | R>S | No |
ClinGen gnomAD |
|
rs772476072 CA7137616 |
1816 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs775804688 CA389317333 |
1816 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
rs775804688 CA7137617 |
1816 | R>L | No |
ClinGen ExAC gnomAD |
|
CA389317342 rs1485678225 |
1817 | F>L | No |
ClinGen gnomAD |
|
CA7137618 rs760956364 |
1818 | K>E | No |
ClinGen ExAC gnomAD |
|
rs754037307 CA7137620 |
1819 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs201284188 CA7137619 |
1819 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA7137621 rs761826069 |
1821 | S>G | No |
ClinGen ExAC TOPMed |
|
TCGA novel | 1823 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA389317410 rs1438137128 |
1827 | N>D | No |
ClinGen TOPMed gnomAD |
|
rs1312293720 CA389317428 |
1829 | G>D | No |
ClinGen gnomAD |
|
CA389317462 rs1361420119 |
1834 | L>F | No |
ClinGen gnomAD |
|
rs1395784708 CA389317457 |
1834 | L>M | No |
ClinGen gnomAD |
|
CA389317477 rs1174278471 |
1837 | L>I | No |
ClinGen gnomAD |
|
CA389317479 rs1566488936 |
1837 | L>P | No |
ClinGen Ensembl |
|
rs781199241 CA7137625 |
1838 | P>H | No |
ClinGen ExAC gnomAD |
|
CA257938545 rs975820379 |
1839 | R>S | No |
ClinGen TOPMed gnomAD |
|
CA257938548 rs1030125007 |
1842 | S>N | No |
ClinGen gnomAD |
|
CA389317516 rs1566488962 |
1843 | S>N | No |
ClinGen Ensembl |
|
CA389317578 rs1594744425 |
1847 | V>G | No |
ClinGen Ensembl |
|
rs555050238 CA389317570 |
1847 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA7137626 rs555050238 |
1847 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA7137627 rs755914335 |
1848 | G>C | No |
ClinGen ExAC gnomAD |
|
rs777571893 CA7137628 |
1848 | G>D | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 1848 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA7137629 rs748932229 |
1849 | P>S | No |
ClinGen ExAC gnomAD |
|
CA7137630 rs770370515 |
1851 | Y>H | No |
ClinGen ExAC gnomAD |
|
CA389317655 rs1199816879 |
1853 | G>R | No |
ClinGen TOPMed gnomAD |
|
CA389317678 rs1594744444 |
1854 | D>A | No |
ClinGen Ensembl |
|
CA7137634 COSM1218140 rs775892926 |
1855 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
CA389317691 rs1305524554 |
1855 | R>W | No |
ClinGen TOPMed gnomAD |
|
rs1594744458 CA389317720 |
1857 | S>G | No |
ClinGen Ensembl |
|
CA389317726 rs1371762480 |
1857 | S>N | No |
ClinGen TOPMed |
|
CA389317733 rs1299993308 |
1857 | S>R | No |
ClinGen TOPMed |
|
rs768946629 CA7137636 |
1859 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1174108616 CA389317758 |
1860 | L>F | No |
ClinGen TOPMed gnomAD |
|
rs1174108616 CA389317760 |
1860 | L>I | No |
ClinGen TOPMed gnomAD |
|
rs1174108616 CA389317762 |
1860 | L>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
rs776736984 CA7137637 |
1861 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA257938582 rs909436661 |
1861 | Y>H | No |
ClinGen Ensembl |
|
rs1402198954 CA389317797 |
1862 | R>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
CA257938590 rs373108431 |
1864 | W>* | No |
ClinGen ESP TOPMed |
|
CA7137638 rs762068790 |
1865 | G>S | No |
ClinGen ExAC gnomAD |
|
COSM1218139 rs1330287847 CA389317866 |
1867 | P>S | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
rs1388118011 CA389317905 |
1869 | P>L | No |
ClinGen gnomAD |
|
CA389317932 rs1356502904 |
1871 | K>Q | No |
ClinGen Ensembl |
|
rs1219797290 CA389317972 |
1873 | G>E | No |
ClinGen gnomAD |
|
CA389317969 rs1219797290 |
1873 | G>V | No |
ClinGen gnomAD |
|
CA389317978 rs750509257 |
1874 | C>G | No |
ClinGen ExAC TOPMed gnomAD |
|
CA7137640 rs750509257 |
1874 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1198353487 CA389317985 |
1874 | C>S | No |
ClinGen gnomAD |
|
CA389317983 rs1198353487 |
1874 | C>Y | No |
ClinGen gnomAD |
|
CA7137641 rs759603622 |
1876 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA257938604 rs867455391 |
1877 | P>H | No |
ClinGen Ensembl |
|
CA389318034 rs1189695615 |
1878 | S>N | No |
ClinGen gnomAD |
|
CA257938608 rs866697390 |
1881 | M>I | No |
ClinGen gnomAD |
|
rs1194337988 CA389318094 |
1882 | K>R | No |
ClinGen gnomAD |
|
rs767574535 CA257938614 |
1883 | A>S | No |
ClinGen ExAC gnomAD |
|
CA7137642 rs767574535 |
1883 | A>T | No |
ClinGen ExAC gnomAD |
|
CA257938618 rs996113992 |
1884 | F>L | No |
ClinGen TOPMed gnomAD |
|
CA389318146 rs1169743905 |
1885 | A>V | No |
ClinGen gnomAD |
|
TCGA novel | 1886 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA257938621 rs1050413835 |
1886 | K>R | No |
ClinGen TOPMed |
|
CA389318187 rs1350247589 |
1888 | G>D | No |
ClinGen gnomAD |
|
rs752615470 CA7137643 |
1890 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1389392684 CA389318252 |
1893 | F>L | No |
ClinGen gnomAD |
|
rs1164760591 CA389318309 |
1897 | E>D | No |
ClinGen TOPMed gnomAD |
|
CA389318322 rs1218530793 |
1898 | Q>H | No |
ClinGen TOPMed gnomAD |
|
CA389318311 rs1280678219 |
1898 | Q>K | No |
ClinGen gnomAD |
|
rs772305906 CA257938631 |
1898 | Q>R | No |
ClinGen gnomAD |
No associated diseases with Q9P2P1
5 regional properties for Q9P2P1
Type | Name | Position | InterPro Accession |
---|---|---|---|
domain | Integrase, catalytic core | 1609 - 1730 | IPR001584 |
domain | Ribonuclease H domain | 1304 - 1450 | IPR002156 |
domain | Ribonuclease Zc3h12a-like, NYN domain | 792 - 942 | IPR021869 |
domain | Reverse transcriptase/retrotransposon-derived protein, RNase H-like domain | 1130 - 1228 | IPR041577 |
domain | Integrase zinc-binding domain | 1536 - 1590 | IPR041588 |
3 GO annotations of cellular component
Name | Definition |
---|---|
cytoplasmic ribonucleoprotein granule | A ribonucleoprotein granule located in the cytoplasm. |
integral component of membrane | The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
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. |
3 GO annotations of molecular function
Name | Definition |
---|---|
endoribonuclease activity | Catalysis of the hydrolysis of ester linkages within ribonucleic acid by creating internal breaks. |
mRNA binding | Binding to messenger RNA (mRNA), an intermediate molecule between DNA and protein. mRNA includes UTR and coding sequences, but does not contain introns. |
RNA-DNA hybrid ribonuclease activity | Catalysis of the endonucleolytic cleavage of RNA in RNA-DNA hybrids to 5'-phosphomonoesters. |
3 GO annotations of biological process
Name | Definition |
---|---|
DNA integration | The process in which a DNA segment is incorporated into another, usually larger, DNA molecule such as a chromosome. |
DNA repair | The process of restoring DNA after damage. Genomes are subject to damage by chemical and physical agents in the environment (e.g. UV and ionizing radiations, chemical mutagens, fungal and bacterial toxins, etc.) and by free radicals or alkylating agents endogenously generated in metabolism. DNA is also damaged because of errors during its replication. A variety of different DNA repair pathways have been reported that include direct reversal, base excision repair, nucleotide excision repair, photoreactivation, bypass, double-strand break repair pathway, and mismatch repair pathway. |
RNA phosphodiester bond hydrolysis, endonucleolytic | The chemical reactions and pathways involving the hydrolysis of internal 3',5'-phosphodiester bonds in one or two strands of ribonucleotides. |
12 homologous proteins in AiPD
UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
---|---|---|---|---|
A4FUB7 | GIN1 | Gypsy retrotransposon integrase-like protein 1 | Bos taurus (Bovine) | PR |
Q6ZNG9 | KRBA2 | KRAB-A domain-containing protein 2 | Homo sapiens (Human) | PR |
Q6R2W3 | ZBED9 | SCAN domain-containing protein 3 | Homo sapiens (Human) | PR |
Q9UN19 | DAPP1 | Dual adapter for phosphotyrosine and 3-phosphotyrosine and 3-phosphoinositide | Homo sapiens (Human) | PR |
O75113 | N4BP1 | NEDD4-binding protein 1 | Homo sapiens (Human) | PR |
Q9QXT1 | Dapp1 | Dual adapter for phosphotyrosine and 3-phosphotyrosine and 3-phosphoinositide | Mus musculus (Mouse) | PR |
Q94KB1 | MLO14 | MLO-like protein 14 | Arabidopsis thaliana (Mouse-ear cress) | PR |
O80580 | MLO15 | MLO-like protein 15 | Arabidopsis thaliana (Mouse-ear cress) | PR |
Q9SMP1 | XTH11 | Probable xyloglucan endotransglucosylase/hydrolase protein 11 | Arabidopsis thaliana (Mouse-ear cress) | PR |
O49621 | MLO1 | MLO-like protein 1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
Q9FK75 | At5g45670 | GDSL esterase/lipase At5g45670 | Arabidopsis thaliana (Mouse-ear cress) | PR |
Q9FI00 | MLO11 | MLO-like protein 11 | Arabidopsis thaliana (Mouse-ear cress) | PR |
10 | 20 | 30 | 40 | 50 | 60 |
MLLSGGDPPA | QEWFMVQTKS | KPRVQRQRLQ | VQRIFRVKLN | AFQSRPDTPY | FWLQLEGPRE |
70 | 80 | 90 | 100 | 110 | 120 |
NMGKAKEYLK | GLCSPELWKE | VRYPPILHCA | FLGAQGLFLD | CLCWSTLAYL | VPGPPGSLMV |
130 | 140 | 150 | 160 | 170 | 180 |
GGLTESFIMT | QNWLEELVGR | LRWGPAPLLT | PRGIWEAEVT | RAFGALVWIR | GDQHAGDLLQ |
190 | 200 | 210 | 220 | 230 | 240 |
LPPAVQELLL | SLVRDAAGKE | DIIEWLSRFG | ISDSHSDPEV | LICPPQQQKE | APAMVSVGES |
250 | 260 | 270 | 280 | 290 | 300 |
PGPFVDMGTL | QNRGPENSKR | LSSLGATGSL | ITAQSTPQEA | ANQLVRVGSN | NQDGMDSAQE |
310 | 320 | 330 | 340 | 350 | 360 |
EGTVQATSSQ | DSTNHTQALL | KQRQVQKIED | KLLFQPPVSA | LGVCPPWKAW | TPGPAFGPLW |
370 | 380 | 390 | 400 | 410 | 420 |
PGAIAATFWR | INELHSLHLA | WLLSQACFNF | PFWQRPLGPI | QLKLPGQNPL | PLNLEWKQKE |
430 | 440 | 450 | 460 | 470 | 480 |
LAPLPSAESP | AGRPDGGLGG | EAALQNCPRP | EISPKVTSLL | VVPGSSDVKD | KVSSDLPQIG |
490 | 500 | 510 | 520 | 530 | 540 |
PPLTSTPQLQ | AGGEPGDQGS | MQLDFKGLEE | GPAPVLPTGQ | GKPVAQGGLT | DQSVPGAQTV |
550 | 560 | 570 | 580 | 590 | 600 |
PETLKVPMAA | AVPKAENPSR | TQVPSAAPKL | PTSRMMLAVH | TEPAAPEVPL | APTKPTAQLM |
610 | 620 | 630 | 640 | 650 | 660 |
ATAQKTVVNQ | PVLVAQVEPT | TPKTPQAQKM | PVAKTSPAGP | KTPKAQAGPA | ATVSKAPAAS |
670 | 680 | 690 | 700 | 710 | 720 |
KAPAAPKVPV | TPRVSRAPKT | PAAQKVPTDA | GPTLDVARLL | SEVQPTSRAS | VSLLKGQGQA |
730 | 740 | 750 | 760 | 770 | 780 |
GRQGPQSSGT | LALSSKHQFQ | MEGLLGAWEG | APRQPPRHLQ | ANSTVTSFQR | YHEALNTPFE |
790 | 800 | 810 | 820 | 830 | 840 |
LNLSGEPGNQ | GLRRVVIDGS | SVAMVHGLQH | FFSCRGIAMA | VQFFWNRGHR | EVTVFVPTWQ |
850 | 860 | 870 | 880 | 890 | 900 |
LKKNRRVRES | HFLTKLHSLK | MLSITPSQLE | NGKKITTYDY | RFMVKLAEET | DGIIVTNEQI |
910 | 920 | 930 | 940 | 950 | 960 |
HILMNSSKKL | MVKDRLLPFT | FAGNLFMVPD | DPLGRDGPTL | DEFLKKPNRL | DTDIGNFLKV |
970 | 980 | 990 | 1000 | 1010 | 1020 |
WKTLPPSSAS | VTELSDDADS | GPLESLPNME | EVREEKEERQ | DEEQRQGQGT | QKAAEEDDLD |
1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
SSLASVFRVE | CPSLSEEILR | CLSLHDPPDG | ALDIDLLPGA | ASPYLGIPWD | GKAPCQQVLA |
1090 | 1100 | 1110 | 1120 | 1130 | 1140 |
HLAQLTIPSN | FTALSFFMGF | MDSHRDAIPD | YEALVGPLHS | LLKQKPDWQW | DQEHEEAFLA |
1150 | 1160 | 1170 | 1180 | 1190 | 1200 |
LKRALVSALC | LMAPNSQLPF | RLEVTVSHVA | LTAILHQEHS | GRKHPIAYTS | KPLLPDEESQ |
1210 | 1220 | 1230 | 1240 | 1250 | 1260 |
GPQSGGDSPY | AVAWALKHFS | RCIGDTPVVL | DLSYASRTTA | DPEVREGRRV | SKAWLIRWSL |
1270 | 1280 | 1290 | 1300 | 1310 | 1320 |
LVQDKGKRAL | ELALLQGLLG | ENRLLTPAAS | MPRFFQVLPP | FSDLSTFVCI | HMSGYCFYRE |
1330 | 1340 | 1350 | 1360 | 1370 | 1380 |
DEWCAGFGLY | VLSPTSPPVS | LSFSCSPYTP | TYAHLAAVAC | GLERFGQSPL | PVVFLTHCNW |
1390 | 1400 | 1410 | 1420 | 1430 | 1440 |
IFSLLWELLP | LWRARGFLSS | DGAPLPHPSL | LSYIISLTSG | LSSLPFIYRT | SYRGSLFAVT |
1450 | 1460 | 1470 | 1480 | 1490 | 1500 |
VDTLAKQGAQ | GGGQWWSLPK | DVPAPTVSPH | AMGKRPNLLA | LQLSDSTLAD | IIARLQAGQK |
1510 | 1520 | 1530 | 1540 | 1550 | 1560 |
LSGSSPFSSA | FNSLSLDKES | GLLMFKGDKK | PRVWVVPTQL | RRDLIFSVHD | IPLGAHQRPE |
1570 | 1580 | 1590 | 1600 | 1610 | 1620 |
ETYKKLRLLG | WWPGMQEHVK | DYCRSCLFCI | PRNLIGSELK | VIESPWPLRS | TAPWSNLQIE |
1630 | 1640 | 1650 | 1660 | 1670 | 1680 |
VVGPVTISEE | GHKHVLIVAD | PNTRWVEAFP | LKPYTHTAVA | QVLLQHVFAR | WGVPVRLEAA |
1690 | 1700 | 1710 | 1720 | 1730 | 1740 |
QGPQFARHVL | VSCGLALGAQ | VASLSRDLQF | PCLTSSGAYW | EFKRALKEFI | FLHGKKWAAS |
1750 | 1760 | 1770 | 1780 | 1790 | 1800 |
LPLLHLAFRA | SSTDATPFKV | LTGGESRLTE | PLWWEMSSAN | IEGLKMDVFL | LQLVGELLEL |
1810 | 1820 | 1830 | 1840 | 1850 | 1860 |
HWRVADKASE | KAENRRFKRE | SQEKEWNVGD | QVLLLSLPRN | GSSAKWVGPF | YIGDRLSLSL |
1870 | 1880 | 1890 | |||
YRIWGFPTPE | KLGCIYPSSL | MKAFAKSGTP | LSFKVLEQ |