Q8IZF3
PR
Gene name |
ADGRF4 (GPR115, PGR18) |
Protein name |
Adhesion G protein-coupled receptor F4 |
Names |
G-protein coupled receptor 115, G-protein coupled receptor PGR18 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:221393 |
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 Q8IZF3
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q8IZF3-F1 | Predicted | AlphaFoldDB |
668 variants for Q8IZF3
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| rs377029853 | 1 | M>? | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1313191422 CA363947976 |
2 | K>R | No |
ClinGen gnomAD |
|
|
CA137967643 rs867613264 |
3 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
| TCGA novel | 3 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA137967644 rs781421222 |
4 | K>R | No |
ClinGen Ensembl |
|
|
rs750426161 CA3845162 |
7 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs751706369 CA3845165 |
9 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA3845164 rs766627435 |
9 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs115095434 CA3845166 |
11 | C>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 11 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs987639261 CA137967659 |
12 | C>S | No |
ClinGen TOPMed |
|
|
rs752979778 CA3845168 |
14 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA137967669 rs943758625 |
16 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA363948079 rs1291459064 |
18 | S>T | No |
ClinGen TOPMed |
|
|
rs375005637 CA3845169 |
20 | E>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs749852232 CA3845171 |
21 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA363948120 rs1229930688 |
23 | H>Q | No |
ClinGen TOPMed |
|
|
rs991390661 CA137967681 |
24 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs185636208 CA3845173 |
25 | R>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA363948136 rs367871797 |
26 | S>A | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs367871797 CA137967691 |
26 | S>T | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA363948151 rs746551585 |
28 | I>N | No |
ClinGen ExAC gnomAD |
|
|
CA3845175 rs746551585 |
28 | I>S | No |
ClinGen ExAC gnomAD |
|
|
CA363948149 rs1359637479 |
28 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs768146522 CA3845176 |
29 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA363948156 rs1296218344 |
29 | H>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs760884027 CA3845206 |
32 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA137968211 rs1005082768 |
32 | A>S | No |
ClinGen TOPMed |
|
|
rs760884027 CA3845207 |
32 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs559349972 CA363948191 |
33 | G>A | No |
ClinGen gnomAD |
|
|
rs559349972 CA137968220 |
33 | G>E | No |
ClinGen gnomAD |
|
|
CA3845209 rs762216028 |
34 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs750961876 CA137968221 |
34 | D>N | No |
ClinGen Ensembl |
|
|
CA363948214 rs1561865896 |
37 | Q>* | No |
ClinGen Ensembl |
|
|
rs765704265 CA363948215 |
37 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3845210 rs765704265 |
37 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751007027 CA3845211 |
38 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1181832732 CA363948242 |
41 | G>R | No |
ClinGen gnomAD |
|
|
CA137968232 rs200902576 |
42 | K>E | No |
ClinGen Ensembl |
|
|
CA3845213 rs754434140 |
43 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA3845214 rs754434140 |
43 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA137968238 rs371291076 |
44 | K>N | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA363948270 rs1469643619 COSM1650620 COSM596809 |
46 | G>R | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
| TCGA novel | 47 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA363948288 rs1159487308 |
48 | I>S | No |
ClinGen gnomAD |
|
|
rs1403148683 CA363948320 |
51 | K>E | No |
ClinGen TOPMed |
|
|
rs755723377 CA3845236 |
53 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199878194 CA3845237 |
54 | G>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1362575909 CA363948351 |
55 | P>L | No |
ClinGen TOPMed |
|
|
rs753598524 CA3845239 |
57 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs756979950 CA3845240 |
58 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA363948381 rs754307755 |
60 | S>C | No |
ClinGen gnomAD |
|
|
CA137969915 rs754307755 |
60 | S>F | No |
ClinGen gnomAD |
|
|
rs1190754827 CA363948388 |
61 | N>K | No |
ClinGen gnomAD |
|
|
CA363948385 rs1434143908 |
61 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs778702697 CA3845241 |
62 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs1478096317 CA363948400 |
63 | S>N | No |
ClinGen gnomAD |
|
|
rs1252291509 CA363948411 |
64 | Q>H | No |
ClinGen gnomAD |
|
|
CA3845242 rs143012872 |
64 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs771995633 CA3845243 |
65 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA137969922 rs893716591 |
65 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1184144237 CA363948423 |
66 | C>* | No |
ClinGen TOPMed |
|
|
CA363948421 rs1303066642 |
66 | C>F | No |
ClinGen gnomAD |
|
|
rs1184144237 CA363948422 |
66 | C>W | No |
ClinGen TOPMed |
|
|
CA363948428 rs1403898113 |
67 | A>G | No |
ClinGen gnomAD |
|
|
rs1561866907 CA363948425 |
67 | A>P | No |
ClinGen Ensembl |
|
|
CA363948431 rs1581694415 |
68 | K>E | No |
ClinGen Ensembl |
|
|
rs1581694421 CA363948434 |
68 | K>R | No |
ClinGen Ensembl |
|
|
rs779903618 CA3845244 |
69 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 70 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs747062006 CA3845245 |
71 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs554308397 CA3845248 |
74 | I>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs554308397 CA3845247 |
74 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3845246 rs768793245 |
74 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1222911853 CA363948500 |
78 | C>G | No |
ClinGen gnomAD |
|
|
CA137969957 rs1043061787 |
80 | Q>K | No |
ClinGen Ensembl |
|
|
rs1484353325 CA363948526 |
81 | K>R | No |
ClinGen gnomAD |
|
| rs764604854 | 82 | K>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3845251 rs773589404 |
82 | K>T | No |
ClinGen ExAC gnomAD |
|
|
COSM311554 rs1383381685 CA363948541 |
83 | W>L | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed |
| rs764604854 | 83 | W>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3845252 rs763252417 |
84 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766890414 CA3845253 |
84 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA363948566 rs1195768620 |
87 | A>P | No |
ClinGen gnomAD |
|
|
CA363948586 rs1186036372 |
90 | C>R | No |
ClinGen gnomAD |
|
|
COSM742719 COSM1672478 CA363948605 CA3845254 rs774783551 |
92 | S>R | Variant assessed as Somatic; 0.0 impact. lung haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1255215040 CA363948616 |
94 | S>F | No |
ClinGen Ensembl |
|
|
rs373005300 CA137969982 |
95 | V>M | No |
ClinGen ESP gnomAD |
|
|
CA137969990 rs905979015 |
96 | E>* | No |
ClinGen gnomAD |
|
|
CA3845257 rs753399838 |
97 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA363948636 rs1157592581 |
97 | K>N | No |
ClinGen gnomAD |
|
|
rs1385927852 CA363948638 |
98 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA363948655 rs1400933780 |
100 | K>R | No |
ClinGen gnomAD |
|
|
rs780094785 CA3845284 |
102 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
CA3845286 rs751361107 |
103 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA363948693 rs1581695572 |
104 | G>V | No |
ClinGen Ensembl |
|
|
CA363948697 rs1272218146 |
105 | A>E | No |
ClinGen TOPMed |
|
|
rs372229386 CA3845288 |
107 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs748207158 CA3845289 |
107 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA137970944 rs748207158 |
107 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 109 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA137970950 rs1000359961 |
111 | A>E | No |
ClinGen TOPMed |
|
|
CA3845290 rs139089127 |
111 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3845291 rs149916768 |
113 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA363948751 rs1352115036 |
115 | I>T | No |
ClinGen gnomAD |
|
|
rs369486491 CA3845295 COSM1546712 |
116 | P>H | lung Variant assessed as Somatic; 4.621e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs369486491 CA137970962 |
116 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs374680109 CA3845294 |
116 | P>T | No |
ClinGen ESP ExAC gnomAD |
|
|
rs772683866 CA3845297 |
119 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs776178525 CA3845298 |
120 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA3845299 rs761380054 |
122 | F>I | No |
ClinGen ExAC gnomAD |
|
|
COSM218886 CA3845300 rs200228477 |
123 | R>* | pancreas [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA3845301 rs772794418 COSM1080012 |
123 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA3845304 rs750563328 |
127 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3845303 rs750563328 |
127 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA363948827 rs1201417143 |
128 | I>T | No |
ClinGen gnomAD |
|
|
rs1236462478 CA363948830 |
129 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs912195484 CA137970986 |
132 | A>G | No |
ClinGen TOPMed |
|
|
rs965099809 CA137970994 |
134 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs145785131 COSM109471 CA3845305 |
134 | G>R | skin [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
| TCGA novel | 135 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs767414642 CA3845306 |
135 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3845307 rs376128003 |
136 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3845308 rs755972498 |
136 | R>H | Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs755972498 CA363948897 |
136 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777644206 CA3845310 |
138 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA363948950 rs1424453948 |
139 | C>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1170541995 CA363948938 |
139 | C>R | No |
ClinGen gnomAD |
|
|
CA137971004 rs966878927 |
139 | C>Y | No |
ClinGen Ensembl |
|
|
rs1467198313 CA363948961 |
140 | P>R | No |
ClinGen gnomAD |
|
|
rs757371905 CA3845312 |
142 | D>G | No |
ClinGen ExAC |
|
|
CA3845313 rs779326612 |
143 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA363949029 rs1309432491 |
144 | A>S | No |
ClinGen TOPMed |
|
|
CA3845314 rs746201302 |
147 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 148 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA363949112 rs780694277 CA3845316 |
149 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA363949102 rs1172284713 |
149 | M>K | No |
ClinGen gnomAD |
|
|
rs747418743 CA3845317 |
150 | V>E | No |
ClinGen ExAC |
|
|
rs1278714206 CA363949119 |
150 | V>L | No |
ClinGen gnomAD |
|
|
CA363949154 rs1366769501 |
152 | S>* | No |
ClinGen TOPMed |
|
|
rs772558447 CA3845319 |
153 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA3845318 rs769210864 |
153 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA3845320 rs116118265 |
155 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs386700905 CA137971021 |
155 | T>M | No |
ClinGen Ensembl |
|
| TCGA novel | 158 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM170141 CA363949268 rs1193591138 |
160 | I>T | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1264445313 CA363949273 |
161 | A>S | No |
ClinGen gnomAD |
|
|
rs1264445313 CA363949271 |
161 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1478882517 CA363949276 |
161 | A>V | No |
ClinGen gnomAD |
|
|
CA3845325 rs767239027 |
164 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA3845326 rs752538962 |
165 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs1178459999 | 169 | N>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA363949351 rs1190490794 |
172 | T>I | No |
ClinGen TOPMed |
|
|
CA3845328 rs764111978 |
173 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1262332827 CA363949354 |
173 | D>H | No |
ClinGen TOPMed |
|
| TCGA novel | 174 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA363949363 rs1298801454 |
174 | L>S | No |
ClinGen gnomAD |
|
|
rs1561867793 CA363949361 |
174 | L>V | No |
ClinGen Ensembl |
|
|
rs1216216610 CA363949370 |
175 | S>Y | No |
ClinGen TOPMed |
|
|
CA137971058 rs369417960 |
176 | D>E | No |
ClinGen ESP |
|
|
CA363949377 rs1328800437 |
176 | D>G | No |
ClinGen TOPMed |
|
|
rs1225455229 CA363949386 |
177 | N>K | No |
ClinGen TOPMed |
|
|
CA363949384 rs1379979133 |
177 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs574873610 CA3845329 |
180 | R>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3845330 rs574873610 |
180 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs146456290 CA363949401 |
180 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3845331 rs146456290 |
180 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3845332 rs140892790 |
181 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3845333 rs746022570 |
185 | S>* | No |
ClinGen ExAC gnomAD |
|
|
CA137971748 rs991378637 |
185 | S>N | No |
ClinGen gnomAD |
|
|
rs528317988 CA3845357 |
186 | Y>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA363949840 rs1447086479 |
186 | Y>D | No |
ClinGen gnomAD |
|
|
CA3845359 rs756613922 |
187 | S>I | No |
ClinGen ExAC gnomAD |
|
|
rs1581696708 CA363949868 |
190 | A>P | No |
ClinGen Ensembl |
|
|
CA363949877 rs1230150831 |
191 | N>K | No |
ClinGen gnomAD |
|
|
CA3845362 rs763283682 |
191 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA3845363 rs775246826 |
192 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1457342764 CA363949887 |
193 | I>V | No |
ClinGen gnomAD |
|
|
CA3845365 COSM1672481 COSM1672482 rs566069534 |
195 | D>N | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs761777164 CA363949909 |
196 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3845367 rs761777164 |
196 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1369026730 CA363949911 |
197 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA363949940 rs1473723267 |
201 | N>I | No |
ClinGen gnomAD |
|
|
rs202171646 CA3845368 |
202 | W>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA363949957 rs1581696748 |
203 | A>V | No |
ClinGen Ensembl |
|
|
CA3845371 rs763175175 |
206 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA363949982 rs1268261926 |
207 | N>S | No |
ClinGen TOPMed |
|
|
rs1394698591 CA363950001 |
209 | N>K | No |
ClinGen gnomAD |
|
| TCGA novel | 210 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766481345 CA3845372 |
211 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs145448448 CA3845373 |
212 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs145448448 CA363950019 |
212 | S>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3845375 rs767853444 |
213 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA137971814 rs148912260 |
214 | L>M | No |
ClinGen ESP TOPMed |
|
|
rs756562481 CA3845377 |
216 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1343097524 CA363950044 |
216 | Q>P | No |
ClinGen gnomAD |
|
|
rs745350550 CA3845379 |
218 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1443887359 CA363950060 |
219 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
CA137971837 rs768961052 |
220 | L>F | No |
ClinGen Ensembl |
|
|
rs757992247 CA3845380 |
222 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA3845381 rs779559654 |
223 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs909394356 CA137971847 |
223 | R>S | No |
ClinGen TOPMed |
|
|
rs746614420 CA3845382 |
224 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3845383 rs768199528 |
226 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs781001596 CA3845384 |
227 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs569726008 CA3845385 |
228 | H>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA363950126 rs1581696840 |
229 | N>S | No |
ClinGen Ensembl |
|
|
CA137971876 rs896811009 |
229 | N>Y | No |
ClinGen TOPMed |
|
|
CA363950148 rs1416948829 |
232 | E>G | No |
ClinGen gnomAD |
|
|
CA3845386 rs769834631 |
233 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
CA3845387 rs143611664 |
234 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1477987481 CA363950165 |
235 | V>M | No |
ClinGen TOPMed |
|
|
rs763122081 CA3845388 |
236 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA363950184 rs1347028027 |
237 | E>D | No |
ClinGen gnomAD |
|
|
rs771104599 CA3845389 |
237 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA363950178 rs1300852273 |
237 | E>K | No |
ClinGen gnomAD |
|
|
rs1329366363 CA363950185 |
238 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA363950208 rs1190880957 |
241 | Q>* | No |
ClinGen TOPMed |
|
|
CA363950218 rs1256739982 |
242 | T>K | No |
ClinGen gnomAD |
|
|
rs759760806 CA3845391 |
243 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA3845393 rs753036071 |
244 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA363950229 rs753036071 |
244 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs113689068 CA3845392 |
244 | G>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3845395 rs114176612 |
246 | H>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs754398637 CA3845396 |
248 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3845398 rs779548956 |
249 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA363950267 rs1199150216 |
250 | N>H | No |
ClinGen gnomAD |
|
|
CA3845399 rs751063666 |
250 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA3845400 rs754611015 |
251 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA363950278 rs1301031483 |
251 | T>I | No |
ClinGen TOPMed |
|
|
CA3845402 rs774870325 |
253 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA137971983 rs866768043 |
255 | S>N | No |
ClinGen Ensembl |
|
| TCGA novel | 257 | N>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA363950318 rs1342413424 |
257 | N>S | No |
ClinGen TOPMed |
|
|
rs769781784 CA3845403 |
259 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA363950338 rs1373456842 |
260 | M>I | No |
ClinGen gnomAD |
|
|
CA3845404 rs777843812 |
260 | M>R | No |
ClinGen ExAC gnomAD |
|
|
rs1032781917 CA137971988 |
260 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA137972010 rs1008970738 |
261 | S>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1008970738 CA363950344 |
261 | S>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs770801614 CA3845406 |
263 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs750966752 CA3845405 |
263 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs902911090 CA137972023 |
264 | N>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA363950375 rs1390417176 |
265 | T>I | No |
ClinGen TOPMed |
|
|
rs774435929 CA3845407 |
266 | T>K | No |
ClinGen ExAC gnomAD |
|
|
rs372713361 CA3845410 |
267 | E>K | No |
ClinGen ESP ExAC gnomAD |
|
|
rs372713361 CA3845411 |
267 | E>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
rs567838423 CA3845413 |
268 | D>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA363950387 rs1209909031 |
268 | D>N | No |
ClinGen gnomAD |
|
|
rs567838423 CA3845412 |
268 | D>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA363950399 rs1200499188 |
269 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1489030961 CA363950409 |
271 | G>R | No |
ClinGen Ensembl |
|
|
COSM1319082 rs762342065 CA3845414 |
274 | Q>* | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs868551671 CA137972046 |
276 | P>L | No |
ClinGen Ensembl |
|
|
CA363950444 rs1380109055 |
276 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA363950447 rs1161928158 |
277 | R>W | No |
ClinGen gnomAD |
|
|
CA3845417 rs754487576 |
281 | R>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 284 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA363950502 rs1177036004 |
284 | W>C | No |
ClinGen TOPMed |
|
|
CA363950496 rs1250779824 |
284 | W>G | No |
ClinGen TOPMed gnomAD |
|
|
TCGA novel CA363950508 rs1581697042 |
285 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Ensembl |
|
CA3845418 rs780990472 |
286 | N>K | No |
ClinGen ExAC |
|
|
rs752458241 CA3845419 |
287 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs762165091 CA363950524 |
288 | S>C | No |
ClinGen ExAC |
|
|
rs762165091 CA3845421 |
288 | S>F | No |
ClinGen ExAC |
|
|
CA363950521 rs755848741 |
288 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs755848741 CA3845420 |
288 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs749056028 CA3845422 |
289 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs1273648834 CA363950554 |
293 | I>V | No |
ClinGen TOPMed |
|
|
rs1377385797 CA363950561 |
294 | A>P | No |
ClinGen gnomAD |
|
|
rs778753386 CA3845424 |
294 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA363950583 rs1310569309 |
297 | T>I | No |
ClinGen gnomAD |
|
|
CA3845425 rs745953561 |
298 | L>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA3845426 rs772196987 |
299 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA3845428 rs747168174 |
300 | A>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 301 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1412311247 CA363950613 |
303 | R>G | No |
ClinGen gnomAD |
|
|
CA137972119 rs1010309139 |
303 | R>K | No |
ClinGen TOPMed |
|
|
rs1010309139 CA363950615 |
303 | R>T | No |
ClinGen TOPMed |
|
|
CA3845431 rs139185978 |
305 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 306 | H>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA137972131 rs1023271578 |
308 | Q>K | No |
ClinGen Ensembl |
|
|
rs1420124125 CA363950662 |
310 | V>M | Variant assessed as Somatic; 4.633e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1249341167 CA363950671 |
311 | S>N | No |
ClinGen Ensembl |
|
| TCGA novel | 312 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs765746255 CA3845432 |
313 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3845433 rs377160244 |
314 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA363950692 rs982519160 |
314 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA3845434 rs759076311 |
315 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs759076311 CA363950693 |
315 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA3845435 rs114630843 |
315 | Q>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1407900291 CA363950703 |
316 | V>A | No |
ClinGen TOPMed |
|
|
rs1294978876 CA363950715 |
318 | G>C | No |
ClinGen gnomAD |
|
| TCGA novel | 318 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 318 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs753633830 CA3845439 |
321 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1308857684 CA363950777 |
328 | R>M | No |
ClinGen gnomAD |
|
|
rs1474563662 CA363950781 |
329 | L>M | No |
ClinGen TOPMed |
|
|
CA3845443 rs370532419 |
332 | I>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3845444 rs200903460 |
334 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 337 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3845447 rs776759488 |
337 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA3845446 rs116696585 |
337 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA363950835 rs116696585 |
337 | E>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs889362852 CA137972166 |
339 | I>F | No |
ClinGen Ensembl |
|
|
rs889362852 CA363950850 |
339 | I>V | No |
ClinGen Ensembl |
|
|
rs748543935 CA3845448 |
340 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 341 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770116932 CA3845449 |
342 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs773642399 CA3845450 |
343 | R>C | No |
ClinGen ExAC gnomAD |
|
|
COSM1444962 rs138156132 CA3845452 |
343 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
COSM3697897 CA3845451 COSM3697896 rs138156132 |
343 | R>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs753732280 CA363950888 |
345 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
CA3845455 rs763831093 |
345 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs753732280 CA137972184 |
345 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA3845456 rs753489113 |
346 | R>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs756946660 CA3845457 |
346 | R>K | No |
ClinGen ExAC |
|
|
CA363950891 rs756946660 |
346 | R>T | No |
ClinGen ExAC |
|
|
CA363950898 rs1217124438 |
347 | A>D | No |
ClinGen gnomAD |
|
|
CA3845458 rs764872187 COSM374542 |
348 | Q>H | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA137972212 rs1032725775 |
348 | Q>L | No |
ClinGen TOPMed |
|
|
rs1032725775 CA363950904 |
348 | Q>P | No |
ClinGen TOPMed |
|
|
CA137972199 rs1032725775 |
348 | Q>R | No |
ClinGen TOPMed |
|
|
rs909367864 CA137972218 |
349 | C>S | No |
ClinGen TOPMed |
|
|
CA363950908 rs1438993762 |
349 | C>Y | No |
ClinGen TOPMed |
|
| TCGA novel | 351 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs376261625 CA137972219 |
352 | W>* | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA3845460 rs758282987 |
353 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA3845461 rs780016343 |
354 | S>T | No |
ClinGen ExAC |
|
|
CA137972225 rs1012749438 |
354 | S>Y | No |
ClinGen TOPMed |
|
|
CA3845462 rs751608845 |
355 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1561868800 CA363950962 |
357 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1193516499 CA363950969 |
358 | R>T | No |
ClinGen gnomAD |
|
|
CA137972239 rs140327995 COSM107947 |
359 | W>* | skin [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs140327995 CA363950979 |
359 | W>C | No |
ClinGen gnomAD |
|
|
rs754839409 CA137972229 |
359 | W>R | No |
ClinGen Ensembl |
|
|
CA363950985 rs1189706015 |
360 | D>V | No |
ClinGen gnomAD |
|
|
CA363950989 rs1424708170 |
361 | E>K | No |
ClinGen gnomAD |
|
|
rs748262968 CA3845465 |
363 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA137972241 rs961979442 |
364 | C>* | No |
ClinGen Ensembl |
|
| TCGA novel | 366 | M>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1045342673 CA137972245 |
367 | M>I | No |
ClinGen TOPMed |
|
|
rs758210423 CA3845467 |
367 | M>K | No |
ClinGen ExAC gnomAD |
|
|
CA137972243 rs758210423 |
367 | M>R | No |
ClinGen ExAC gnomAD |
|
|
CA363951036 rs758210423 |
367 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1581697340 CA363951042 |
368 | L>S | No |
ClinGen Ensembl |
|
|
CA363951059 rs1433662698 |
370 | I>S | No |
ClinGen gnomAD |
|
|
CA363951076 rs771530266 |
373 | E>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA3845469 COSM1697341 rs771530266 COSM1697340 |
373 | E>K | Variant assessed as Somatic; 0.0 impact. oesophagus skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1561868844 CA363951098 |
376 | C>R | No |
ClinGen Ensembl |
|
|
CA3845471 rs148785579 |
377 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs767991215 CA3845473 |
377 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs767991215 CA3845472 |
377 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs148785579 CA363951105 |
377 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3845474 rs761331347 |
378 | C>F | No |
ClinGen ExAC gnomAD |
|
|
rs1316867973 CA363951127 |
380 | Y>C | No |
ClinGen TOPMed |
|
|
CA3845476 rs750163379 |
381 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs150432409 CA3845477 |
383 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs138254510 CA3845479 |
384 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA363951155 CA3845481 rs781070462 |
385 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA3845482 rs115211236 |
385 | M>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3845483 rs756245493 |
386 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs756245493 CA3845484 |
386 | S>P | No |
ClinGen ExAC gnomAD |
|
|
COSM334718 CA3845487 rs779431787 |
391 | M>I | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1349906173 CA363951194 |
391 | M>L | No |
ClinGen gnomAD |
|
|
rs771477314 CA3845486 |
391 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs79395681 CA3845488 |
393 | S>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs772663903 CA3845489 |
393 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
CA3845490 COSM231081 rs775954938 |
395 | S>L | Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA3845493 rs376942274 |
398 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1236568594 CA363951251 |
399 | K>N | No |
ClinGen gnomAD |
|
| TCGA novel | 399 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs997615338 CA137972281 |
400 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1182224929 CA363951265 |
402 | D>A | No |
ClinGen gnomAD |
|
| TCGA novel | 402 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA363951273 rs1209458021 |
403 | Y>C | No |
ClinGen TOPMed |
|
|
CA3845494 rs762725560 |
403 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs1471782520 CA363951278 |
404 | I>V | No |
ClinGen gnomAD |
|
|
rs1417957774 CA363951285 |
405 | T>A | No |
ClinGen gnomAD |
|
|
rs1485547068 CA363951287 |
405 | T>N | No |
ClinGen TOPMed |
|
|
CA363951295 rs759355199 |
406 | C>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA363951291 rs1462505234 |
406 | C>R | No |
ClinGen gnomAD |
|
|
rs774139040 CA3845496 |
406 | C>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA363951303 rs1391213967 |
407 | I>M | No |
ClinGen gnomAD |
|
|
CA363951301 rs1313612272 |
407 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA3845498 rs201647818 |
409 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA137972301 rs530853378 |
410 | S>N | No |
ClinGen 1000Genomes gnomAD |
|
|
CA363951315 rs1232494974 |
410 | S>R | No |
ClinGen TOPMed |
|
|
rs115890838 CA3845500 |
411 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA137972304 rs370068277 |
412 | S>L | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs764206140 CA3845501 |
413 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs372960643 CA3845503 |
414 | L>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs746256313 CA3845505 |
417 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs962053772 COSM381582 CA137972310 |
419 | C>F | lung [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs758809364 CA3845507 |
419 | C>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs149620437 CA3845508 |
420 | L>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 425 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs535346459 CA3845510 |
426 | V>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3845509 rs747608727 |
426 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA137972321 rs747608727 |
426 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA363951419 rs1462194084 |
427 | W>L | No |
ClinGen gnomAD |
|
|
CA363951427 rs1399082727 |
428 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs748875627 CA3845512 |
428 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA363951431 rs116742710 |
429 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs116742710 CA3845514 |
429 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3845513 rs145102054 |
429 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA363951433 CA363951432 rs185690300 |
430 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3845515 rs185690300 |
430 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs146057211 CA3845516 |
431 | V>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM3628190 COSM3628189 CA3845517 rs146828294 |
433 | T>M | Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA3845519 rs141295803 |
434 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1306537426 CA363951460 |
435 | I>L | No |
ClinGen TOPMed |
|
|
rs1397219566 CA363951469 |
436 | S>A | No |
ClinGen TOPMed |
|
|
CA363951472 rs1356026618 |
436 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA3845520 rs754001304 |
437 | Y>C | No |
ClinGen ExAC |
|
| TCGA novel | 437 | Y>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM190036 rs536284658 CA3845521 |
439 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs536284658 CA363951490 |
439 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3845522 rs147067379 |
439 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs758864280 CA3845524 |
440 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs371898872 CA3845523 |
440 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs780412651 CA363951499 CA3845526 |
441 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780412651 CA3845525 |
441 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA3845529 rs375170930 COSM1208596 |
444 | V>M | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA363951527 rs1194960417 |
445 | N>S | No |
ClinGen gnomAD |
|
|
rs1375569886 CA363951535 |
446 | I>T | No |
ClinGen gnomAD |
|
|
CA363951544 rs889118088 |
448 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs889118088 CA137972380 COSM340268 |
448 | V>M | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA3845532 rs745649368 |
449 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745649368 CA137972386 |
449 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA363951561 rs1484314327 |
451 | L>Q | No |
ClinGen TOPMed |
|
|
CA363951567 rs1253047451 |
452 | T>N | No |
ClinGen TOPMed |
|
| TCGA novel | 453 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3845534 rs775163750 |
454 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs368137479 CA3845535 |
455 | V>A | No |
ClinGen ESP ExAC gnomAD |
|
|
CA363951618 rs1382833471 COSM742714 |
459 | I>M | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1298082121 CA363951620 |
460 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1298082121 CA363951619 |
460 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs768747691 CA3845536 |
460 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3845537 rs111640538 |
462 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs540530819 CA3845538 |
465 | I>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs540530819 CA3845539 |
465 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
COSM1444965 rs897059555 CA363951668 |
467 | A>D | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs1037394596 CA137972413 |
467 | A>T | No |
ClinGen gnomAD |
|
|
CA137972417 rs897059555 |
467 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA363951671 rs1269677056 |
468 | Q>* | No |
ClinGen gnomAD |
|
|
CA363951678 rs1450710575 |
469 | D>N | No |
ClinGen gnomAD |
|
|
CA3845542 rs766706552 |
472 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1231432371 CA363951702 |
472 | M>L | No |
ClinGen TOPMed |
|
|
CA3845541 rs763089593 |
472 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA363951704 rs1231432371 |
472 | M>V | No |
ClinGen TOPMed |
|
|
CA363951721 rs1360036626 |
474 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA232389 rs386352312 RCV000122589 |
475 | A>S | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs1216533257 CA363951731 |
476 | V>A | No |
ClinGen gnomAD |
|
|
CA3845543 rs755434519 |
476 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3845544 rs199705436 |
477 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs376220222 CA137972445 |
477 | T>S | No |
ClinGen TOPMed |
|
|
rs1417316148 CA363951745 |
479 | F>V | No |
ClinGen TOPMed |
|
| TCGA novel | 481 | H>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA363951764 rs1322526635 |
481 | H>P | No |
ClinGen gnomAD |
|
|
rs1326747386 CA363951802 |
486 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
CA363951803 rs1326747386 |
486 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA3845546 rs756831866 |
486 | S>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 489 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs745471142 CA3845548 |
490 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs564885837 CA3845547 |
490 | W>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA137972492 rs927086660 |
495 | A>T | No |
ClinGen TOPMed |
|
|
CA363951890 rs1333435538 |
499 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1333435538 CA363951889 |
499 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs768692902 CA3845552 |
500 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA137972500 rs150190613 |
500 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3845551 rs150190613 |
500 | Y>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1581697823 CA363951933 |
506 | F>I | No |
ClinGen Ensembl |
|
|
COSM227761 VAR_055930 rs12110938 CA3845554 |
507 | R>C | NS [Cosmic] | No |
ClinGen cosmic curated UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs142222318 CA3845555 |
507 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs142222318 CA3845556 |
507 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3845559 rs766538384 |
509 | M>I | No |
ClinGen ExAC |
|
|
rs763184221 CA3845558 |
509 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs751918085 CA3845560 |
510 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA137972531 rs1008057830 |
512 | S>F | No |
ClinGen Ensembl |
|
|
CA137972553 rs146374408 |
513 | R>* | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA363951981 rs112563187 |
513 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs112563187 CA3845562 |
513 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1373743110 CA363951986 |
514 | M>T | No |
ClinGen gnomAD |
|
| TCGA novel | 515 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs753140370 CA363952006 |
517 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753140370 CA3845563 |
517 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA363952016 rs756630238 |
518 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756630238 CA3845564 |
518 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3845565 rs778440910 |
521 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1354337258 CA363952032 |
521 | I>V | No |
ClinGen gnomAD |
|
|
rs1274702853 CA363952037 |
522 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA3845566 rs749934998 |
522 | G>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 523 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs758039443 CA3845567 |
525 | C>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA137972615 rs563474990 |
526 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs563474990 CA3845568 |
526 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA363952065 rs1199992715 |
526 | P>S | No |
ClinGen TOPMed |
|
|
CA363952078 rs1254666931 |
528 | I>T | No |
ClinGen gnomAD |
|
|
CA363952090 rs1188723321 |
530 | A>S | No |
ClinGen gnomAD |
|
|
rs781137819 COSM1444966 CA3845571 |
530 | A>V | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA363952097 rs1464296398 |
531 | V>A | No |
ClinGen gnomAD |
|
|
CA363952100 rs1169926018 |
532 | T>A | No |
ClinGen gnomAD |
|
|
rs1463321365 CA363952109 |
533 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA363952108 rs1463321365 |
533 | T>K | No |
ClinGen TOPMed gnomAD |
|
|
CA363952110 rs1463321365 |
533 | T>R | No |
ClinGen TOPMed gnomAD |
|
|
CA363952142 rs1301088984 |
538 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1234700042 CA363952144 |
539 | P>T | No |
ClinGen TOPMed |
|
|
CA3845573 rs769873478 |
540 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3845575 COSM1736628 rs9369738 VAR_024476 CA3845576 COSM1736629 |
541 | K>N | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD UniProt dbSNP |
|
rs774491032 CA3845577 |
542 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1581697988 CA363952174 |
543 | Y>* | No |
ClinGen Ensembl |
|
|
CA3845578 rs759762542 |
544 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1213627301 CA363952178 |
544 | M>V | No |
ClinGen gnomAD |
|
|
CA3845579 rs767815339 |
546 | P>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 548 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1006316312 CA363952204 |
548 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA137972630 rs1006316312 |
548 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1485645602 CA363952210 |
549 | C>R | No |
ClinGen gnomAD |
|
|
CA363952212 rs1212178384 |
549 | C>Y | No |
ClinGen gnomAD |
|
|
rs775857958 CA3845580 |
551 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs761133940 CA3845581 |
554 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs111444086 CA137972634 |
556 | T>A | No |
ClinGen Ensembl |
|
|
rs1174684002 CA363952276 |
558 | A>T | No |
ClinGen TOPMed |
|
|
CA363952284 rs1430129216 |
559 | L>F | No |
ClinGen gnomAD |
|
|
rs1173666533 CA363952285 |
559 | L>H | No |
ClinGen gnomAD |
|
|
rs148418571 CA3845582 |
561 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs749927995 CA3845583 |
562 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs867898847 CA137972659 |
563 | A>V | No |
ClinGen Ensembl |
|
|
rs115905128 CA3845585 |
564 | I>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3845584 rs115905128 |
564 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs386700906 CA137972664 |
564 | I>V | No |
ClinGen Ensembl |
|
|
CA3845587 rs140641930 |
565 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA363952321 rs140641930 |
565 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs547273598 CA3845589 |
566 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA3845591 rs115968193 |
567 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA137972671 rs113395073 |
567 | F>L | No |
ClinGen Ensembl |
|
|
CA3845593 rs141334264 |
568 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA363952339 rs774507047 |
569 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746044415 CA3845595 |
569 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3845594 rs774507047 |
569 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA363952347 rs1223135554 |
570 | V>A | No |
ClinGen gnomAD |
|
|
CA363952360 rs1581698097 |
572 | V>G | No |
ClinGen Ensembl |
|
|
rs1215121761 CA363952355 |
572 | V>I | No |
ClinGen gnomAD |
|
|
CA137972692 rs896963160 |
574 | L>M | No |
ClinGen Ensembl |
|
|
rs1242961712 CA363952371 |
574 | L>P | No |
ClinGen gnomAD |
|
|
rs201596586 CA3845597 |
575 | I>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3845598 rs201596586 |
575 | I>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201596586 CA3845599 |
575 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3845600 rs777072476 CA363952394 |
578 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762386799 CA3845601 |
579 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs575007371 CA137972735 |
580 | V>A | No |
ClinGen gnomAD |
|
|
rs369952445 CA3845602 |
580 | V>F | No |
ClinGen ESP ExAC gnomAD |
|
|
CA3845603 rs751135675 |
582 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754635126 CA3845604 |
583 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1324740915 CA363952427 |
584 | T>I | No |
ClinGen gnomAD |
|
|
CA363952422 rs1433861989 |
584 | T>P | No |
ClinGen gnomAD |
|
| TCGA novel | 586 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA363952445 rs1374084404 |
587 | P>S | No |
ClinGen TOPMed |
|
|
rs989935416 CA137972749 |
589 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA363952459 rs1581698146 |
589 | I>T | No |
ClinGen Ensembl |
|
|
rs1267656530 CA363952461 |
590 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA3845606 rs200936854 |
590 | G>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs755917525 CA3845607 |
591 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs1223667753 CA363952468 |
591 | S>N | No |
ClinGen gnomAD |
|
|
CA363952472 rs1581698161 |
591 | S>R | No |
ClinGen Ensembl |
|
|
CA363952478 rs1285083000 |
592 | S>F | No |
ClinGen gnomAD |
|
|
rs777757486 CA3845609 |
598 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1468798542 CA363952524 |
599 | I>T | No |
ClinGen gnomAD |
|
|
CA3845610 rs749126534 |
601 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1419384551 CA363952565 |
605 | K>E | No |
ClinGen TOPMed |
|
|
rs778926696 CA3845613 |
607 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 608 | A>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1163845538 CA363952585 |
608 | A>T | No |
ClinGen gnomAD |
|
|
rs145281342 CA363952594 |
609 | I>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs145281342 CA137972778 |
609 | I>T | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA3845614 rs149919692 |
609 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA363952598 rs1158467073 |
610 | L>F | No |
ClinGen gnomAD |
|
|
rs747396025 CA3845617 |
611 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747396025 CA363952602 |
611 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1561869530 CA363952621 |
614 | L>P | No |
ClinGen Ensembl |
|
|
CA3845619 rs777067434 |
615 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA363952629 rs1335697368 |
616 | L>P | No |
ClinGen gnomAD |
|
|
rs760812335 CA3845620 |
616 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA363952634 rs1215745966 |
617 | T>A | No |
ClinGen gnomAD |
|
|
rs770362935 CA3845622 |
619 | G>D | No |
ClinGen ExAC |
|
|
CA363952647 rs1270629245 |
619 | G>S | No |
ClinGen gnomAD |
|
|
CA363952654 rs1403336044 |
620 | F>V | No |
ClinGen TOPMed gnomAD |
|
|
CA3845623 rs181976839 |
621 | G>A | No |
ClinGen 1000Genomes ExAC |
|
|
rs143252052 CA3845624 |
623 | A>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA363952676 rs1310270335 |
623 | A>V | No |
ClinGen TOPMed |
|
|
rs1234532664 CA363952681 |
624 | T>S | No |
ClinGen gnomAD |
|
|
rs767262097 CA3845625 |
625 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs138803946 CA3845626 |
625 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA363952684 rs767262097 |
625 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3845628 rs766513067 |
626 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs533842409 CA3845627 |
626 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3845629 rs753702112 |
628 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs375187733 CA3845630 |
628 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1372913906 CA363952706 |
629 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs778873483 CA3845631 |
629 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA363952708 rs1372913906 |
629 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA363952726 rs1277646258 |
632 | T>M | No |
ClinGen gnomAD |
|
|
CA3845632 rs750490598 |
632 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1356097233 CA363952738 |
634 | H>R | No |
ClinGen gnomAD |
|
|
CA363952751 rs1235385214 |
636 | I>V | No |
ClinGen gnomAD |
|
|
rs1268623952 CA363952768 |
638 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs145907264 CA137972901 |
641 | N>D | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA363952787 rs1275094935 |
641 | N>S | No |
ClinGen gnomAD |
|
|
CA137972907 rs1037817069 |
642 | A>G | No |
ClinGen TOPMed |
|
| TCGA novel | 642 | A>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs768945108 CA3845636 |
643 | F>L | No |
ClinGen ExAC gnomAD |
|
| rs1210019261 | 644 | Q>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1210019261 CA363952810 |
644 | Q>H | No |
ClinGen gnomAD |
|
|
rs1409091741 CA363952821 |
645 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA363952830 rs1581699192 |
646 | F>Y | No |
ClinGen Ensembl |
|
| TCGA novel | 647 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 648 | I>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA137973719 rs1002100269 |
648 | I>V | No |
ClinGen Ensembl |
|
|
CA363952855 rs142966293 |
650 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs753100255 CA137973729 |
651 | F>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs758763667 CA137973733 |
654 | I>T | No |
ClinGen Ensembl |
|
|
CA3845669 rs776413387 |
655 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs114471615 CA137973736 |
655 | M>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3845668 rs114471615 |
655 | M>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA363952910 rs1418735900 |
658 | K>R | No |
ClinGen TOPMed |
|
|
rs776018554 CA3845688 |
659 | I>K | No |
ClinGen ExAC gnomAD |
|
|
rs768147879 CA3845687 |
659 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 660 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs769467751 CA137974051 |
661 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747751018 CA3845689 |
661 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs772959776 COSM1621741 CA3845691 COSM3662603 |
662 | A>T | liver [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1043458840 CA137974076 |
662 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA363952955 rs1314414296 |
664 | R>G | No |
ClinGen gnomAD |
|
|
rs201131962 CA363952957 |
664 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA3845692 rs201131962 |
664 | R>M | No |
ClinGen ExAC gnomAD |
|
|
CA3845693 rs766212816 |
664 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs1347943513 CA363952976 |
666 | R>S | No |
ClinGen TOPMed |
|
|
rs903695591 CA137974091 |
668 | S>P | No |
ClinGen gnomAD |
|
| TCGA novel | 668 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA363953009 rs1485351814 |
671 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA3845695 rs759394130 |
672 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA3845696 rs767571297 |
673 | K>N | No |
ClinGen ExAC gnomAD |
|
|
COSM33506 VAR_036224 CA3845698 rs572583506 |
674 | S>L | breast a breast cancer sample; somatic mutation [Cosmic, UniProt] | No |
ClinGen cosmic curated UniProt 1000Genomes ExAC dbSNP gnomAD |
|
rs752842683 CA3845697 |
674 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs1275725287 CA363953027 |
675 | R>G | No |
ClinGen Ensembl |
|
|
CA363953033 rs1310936695 |
676 | A>T | No |
ClinGen gnomAD |
|
|
rs757766488 CA3845701 |
676 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs779152198 CA3845702 |
677 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs758852307 CA3845704 |
678 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3845729 rs745702301 |
680 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs745702301 CA3845730 |
680 | A>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 680 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA137974828 rs1014620331 |
682 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1405179143 CA363953096 |
684 | P>L | No |
ClinGen gnomAD |
|
|
rs775640571 CA3845731 |
685 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA363953105 rs1390358483 |
686 | N>Y | No |
ClinGen gnomAD |
|
|
CA3845732 rs143897106 |
687 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA363953114 rs143897106 |
687 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3845733 rs115896656 |
688 | S>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA363953139 rs1171758539 |
691 | M>K | No |
ClinGen TOPMed |
|
|
CA3845735 rs762056596 |
691 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA363953149 rs1428749134 |
692 | N>S | No |
ClinGen TOPMed |
|
|
CA3845736 rs200623239 |
693 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs147432918 CA3845737 |
693 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA363953156 rs147432918 |
693 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3845738 rs763285305 |
694 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA137974855 rs912571390 |
696 | G>R | No |
ClinGen TOPMed |
No associated diseases with Q8IZF3
1 regional properties for Q8IZF3
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Arf GTPase activating protein | 10 - 128 | IPR001164 |
1 GO annotations of cellular component
| Name | Definition |
|---|---|
| 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. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| G protein-coupled receptor activity | Combining with an extracellular signal and transmitting the signal across the membrane by activating an associated G-protein; promotes the exchange of GDP for GTP on the alpha subunit of a heterotrimeric G-protein complex. |
3 GO annotations of biological process
| Name | Definition |
|---|---|
| adenylate cyclase-activating G protein-coupled receptor signaling pathway | A G protein-coupled receptor signaling pathway in which the signal is transmitted via the activation of adenylyl cyclase activity and a subsequent increase in the intracellular concentration of cyclic AMP (cAMP). |
| cell surface receptor signaling pathway | The series of molecular signals initiated by activation of a receptor on the surface of a cell. The pathway begins with binding of an extracellular ligand to a cell surface receptor, or for receptors that signal in the absence of a ligand, by ligand-withdrawal or the activity of a constitutively active receptor. The pathway ends with regulation of a downstream cellular process, e.g. transcription. |
| G protein-coupled receptor signaling pathway | The series of molecular signals initiated by a ligand binding to its receptor, in which the activated receptor promotes the exchange of GDP for GTP on the alpha-subunit of an associated heterotrimeric G-protein complex. The GTP-bound activated alpha-G-protein then dissociates from the beta- and gamma-subunits to further transmit the signal within the cell. The pathway begins with receptor-ligand interaction, and ends with regulation of a downstream cellular process. The pathway can start from the plasma membrane, Golgi or nuclear membrane. |
7 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| O97148 | mth | G-protein coupled receptor Mth | Drosophila melanogaster (Fruit fly) | PR |
| Q9VSE7 | mthl7 | Probable G-protein coupled receptor Mth-like 7 | Drosophila melanogaster (Fruit fly) | PR |
| P83119 | mthl12 | Probable G-protein coupled receptor Mth-like 12 | Drosophila melanogaster (Fruit fly) | PR |
| Q9UHX3 | ADGRE2 | Adhesion G protein-coupled receptor E2 | Homo sapiens (Human) | PR |
| Q86SQ4 | ADGRG6 | Adhesion G-protein coupled receptor G6 | Homo sapiens (Human) | PR |
| Q80TR1 | Adgrl1 | Adhesion G protein-coupled receptor L1 | Mus musculus (Mouse) | PR |
| Q2Q426 | ADGRE2 | Adhesion G protein-coupled receptor E2 | Macaca mulatta (Rhesus macaque) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MKMKSQATMI | CCLVFFLSTE | CSHYRSKIHL | KAGDKLQSPE | GKPKTGRIQE | KCEGPCISSS |
| 70 | 80 | 90 | 100 | 110 | 120 |
| NCSQPCAKDF | HGEIGFTCNQ | KKWQKSAETC | TSLSVEKLFK | DSTGASRLSV | AAPSIPLHIL |
| 130 | 140 | 150 | 160 | 170 | 180 |
| DFRAPETIES | VAQGIRKNCP | FDYACITDMV | KSSETTSGNI | AFIVELLKNI | STDLSDNVTR |
| 190 | 200 | 210 | 220 | 230 | 240 |
| EKMKSYSEVA | NHILDTAAIS | NWAFIPNKNA | SSDLLQSVNL | FARQLHIHNN | SENIVNELFI |
| 250 | 260 | 270 | 280 | 290 | 300 |
| QTKGFHINHN | TSEKSLNFSM | SMNNTTEDIL | GMVQIPRQEL | RKLWPNASQA | ISIAFPTLGA |
| 310 | 320 | 330 | 340 | 350 | 360 |
| ILREAHLQNV | SLPRQVNGLV | LSVVLPERLQ | EIILTFEKIN | KTRNARAQCV | GWHSKKRRWD |
| 370 | 380 | 390 | 400 | 410 | 420 |
| EKACQMMLDI | RNEVKCRCNY | TSVVMSFSIL | MSSKSMTDKV | LDYITCIGLS | VSILSLVLCL |
| 430 | 440 | 450 | 460 | 470 | 480 |
| IIEATVWSRV | VVTEISYMRH | VCIVNIAVSL | LTANVWFIIG | SHFNIKAQDY | NMCVAVTFFS |
| 490 | 500 | 510 | 520 | 530 | 540 |
| HFFYLSLFFW | MLFKALLIIY | GILVIFRRMM | KSRMMVIGFA | IGYGCPLIIA | VTTVAITEPE |
| 550 | 560 | 570 | 580 | 590 | 600 |
| KGYMRPEACW | LNWDNTKALL | AFAIPAFVIV | AVNLIVVLVV | AVNTQRPSIG | SSKSQDVVII |
| 610 | 620 | 630 | 640 | 650 | 660 |
| MRISKNVAIL | TPLLGLTWGF | GIATLIEGTS | LTFHIIFALL | NAFQGFFILL | FGTIMDHKIR |
| 670 | 680 | 690 | |||
| DALRMRMSSL | KGKSRAAENA | SLGPTNGSKL | MNRQG |