Q9HCR9
SS
Gene name |
PDE11A |
Protein name |
Dual 3',5'-cyclic-AMP and -GMP phosphodiesterase 11A |
Names |
EC 3.1.4.35 , EC 3.1.4.53 , cAMP and cGMP phosphodiesterase 11A |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:50940 |
EC number |
3.1.4.35: Phosphoric diester hydrolases |
Protein Class |
|
Descriptions
PDE5A plays a role in signal transduction by regulating the intracellular concentration of cyclic nucleotides. PDE5A contains a catalytic domain that hydrolyzes cGMP and a regulatory (R) domain (1-539) that contains two GAFs, a and b. The R domain binds cGMP allosterically, provides for dimerization, and is phosphorylated at a site regulated by allosteric cGMP binding. The sequence containing GAF b and its flanking amino acids (403-539) autoinhibits the cGMP-binding affinity of GAF a.
Autoinhibitory domains (AIDs)
Target domain |
295-377 (GAF a domain) |
Relief mechanism |
Ligand binding |
Assay |
|
Accessory elements
No accessory elements
References
- Yeon JH et al. (2016) "Systems-wide Identification of cis-Regulatory Elements in Proteins", Cell systems, 2, 89-100
- Zoraghi R et al. (2005) "Structural and functional features in human PDE5A1 regulatory domain that provide for allosteric cGMP binding, dimerization, and regulation", The Journal of biological chemistry, 280, 12051-63
- Francis SH et al. (2011) "Mammalian cyclic nucleotide phosphodiesterases: molecular mechanisms and physiological functions", Physiological reviews, 91, 651-90
Autoinhibited structure
Activated structure
1 structures for Q9HCR9
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9HCR9-F1 | Predicted | AlphaFoldDB |
835 variants for Q9HCR9
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV001258305 RCV000190613 RCV000903265 rs529789124 RCV000485692 |
58 | T>missing | Bardet-Biedl syndrome 16 Pigmented nodular adrenocortical disease, primary, 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA1982252 rs779068288 RCV001333937 |
165 | P>T | Pigmented nodular adrenocortical disease, primary, 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA117375 RCV002251878 RCV000950090 RCV000005604 COSM3695004 COSM3695003 rs76308115 |
307 | R>* | Pigmented nodular adrenocortical disease, primary, 2 (ppnad2) large_intestine Pigmented nodular adrenocortical disease, primary, 2 [Ensembl, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA1982147 RCV002282045 RCV000490398 rs188985665 |
329 | R>* | Pigmented nodular adrenocortical disease, primary, 2 (ppnad2) Pigmented nodular adrenocortical disease, primary, 2 [Ensembl, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA1981856 rs138427178 RCV001196800 RCV000899076 |
552 | I>T | Pigmented nodular adrenocortical disease, primary, 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001262774 rs573163079 RCV000899075 |
554 | C>missing | Pigmented nodular adrenocortical disease, primary, 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs771254375 RCV000490291 CA1981806 |
604 | S>* | Pigmented nodular adrenocortical disease, primary, 2 (ppnad2) Pigmented nodular adrenocortical disease, primary, 2 [Ensembl, ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000986932 rs77597060 CA1981744 |
658 | Y>C | Pigmented nodular adrenocortical disease, primary, 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs769235876 RCV000490402 |
757 | S>missing | Pigmented nodular adrenocortical disease, primary, 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs371810618 RCV001328976 CA1981446 |
873 | I>T | Pigmented nodular adrenocortical disease, primary, 2 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000890931 CA1981422 RCV002505275 rs79400048 |
883 | A>T | Pigmented nodular adrenocortical disease, primary, 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA1982345 rs756488944 |
3 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs748450894 CA1982344 |
3 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM4136587 rs779825580 CA1982343 |
5 | R>H | ovary [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs779825580 CA349707940 |
5 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1482602038 CA349707933 |
6 | L>P | No |
ClinGen gnomAD |
|
|
CA1982341 rs749997053 |
8 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA1982342 rs142558261 |
8 | F>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA349707893 rs1307968586 |
9 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA349707884 rs778584662 |
10 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA1982340 rs778584662 |
10 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA349707863 rs1574384014 |
11 | V>G | No |
ClinGen Ensembl |
|
|
CA1982338 rs753830736 |
11 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1982336 rs369376172 |
12 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs764065952 CA1982337 |
12 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA1982335 rs752428330 |
13 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767829748 CA1982334 |
14 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs201362232 CA1982333 |
14 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201362232 CA1982332 |
14 | F>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1176347882 CA349707819 |
15 | L>P | No |
ClinGen gnomAD |
|
|
CA349707812 rs1467758518 |
16 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
CA349707814 rs1467758518 |
16 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1176683130 CA349707794 |
17 | R>T | No |
ClinGen gnomAD |
|
|
rs771003687 CA1982331 |
18 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs762965490 CA1982330 |
20 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs147765540 CA349707752 |
20 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs762965490 CA349707761 |
20 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs935688055 CA61455474 |
22 | F>S | No |
ClinGen TOPMed |
|
|
rs1236819125 CA349707698 |
24 | D>G | No |
ClinGen gnomAD |
|
|
CA1982326 rs748589126 |
25 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA61455473 rs865997123 |
27 | M>I | No |
ClinGen gnomAD |
|
|
CA349707679 rs1224226095 |
27 | M>V | No |
ClinGen gnomAD |
|
|
rs769014444 CA1982324 |
28 | R>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 28 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1982322 rs201781409 |
32 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA349707624 rs1374575371 |
34 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs778640057 CA1982321 |
35 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1982319 rs574426231 |
36 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1160911769 CA349707555 |
44 | Q>* | No |
ClinGen gnomAD |
|
|
CA349707552 rs1419449582 |
44 | Q>R | No |
ClinGen gnomAD |
|
|
rs956598425 CA349707546 |
45 | G>A | No |
ClinGen gnomAD |
|
|
rs755983406 CA1982317 |
45 | G>C | No |
ClinGen ExAC gnomAD |
|
|
rs956598425 CA61455472 |
45 | G>D | No |
ClinGen gnomAD |
|
|
rs956598425 CA349707545 |
45 | G>V | No |
ClinGen gnomAD |
|
|
rs756967751 RCV000524043 |
46 | Q>missing | No |
ClinVar dbSNP |
|
|
CA349707541 rs1243705664 |
46 | Q>R | No |
ClinGen gnomAD |
|
|
rs1485592118 CA349707535 |
47 | G>R | No |
ClinGen gnomAD |
|
|
CA349707529 rs1259167609 |
48 | A>P | No |
ClinGen gnomAD |
|
|
CA349707515 rs1314848204 |
50 | G>D | No |
ClinGen gnomAD |
|
|
CA1982314 rs767248798 |
50 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA349707510 COSM402057 rs1323343973 |
51 | P>T | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs77972073 CA1982313 |
52 | R>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs77972073 RCV000426419 CA1982312 |
52 | R>T | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA1982311 rs766576858 |
53 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA1982310 rs763091556 |
54 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA61455470 rs192255208 |
56 | A>S | No |
ClinGen 1000Genomes |
|
|
CA1982309 rs150862803 |
56 | A>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA349707476 rs1290238247 |
57 | G>D | No |
ClinGen gnomAD |
|
|
rs762244989 CA1982307 |
59 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1385724553 CA349707429 |
64 | S>G | No |
ClinGen gnomAD |
|
| TCGA novel | 64 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1178432766 CA349707428 |
64 | S>N | No |
ClinGen TOPMed |
|
|
CA349707418 rs1192449920 |
65 | T>I | No |
ClinGen gnomAD |
|
|
rs1488718693 CA349707381 |
71 | S>G | No |
ClinGen gnomAD |
|
|
CA1982304 rs747338751 |
71 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA1982305 rs768902946 |
71 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1574383760 CA349707371 |
72 | V>G | No |
ClinGen Ensembl |
|
|
rs770702538 CA1982302 |
73 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1982301 rs748846179 |
73 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA349707362 rs1170843888 |
74 | G>A | No |
ClinGen TOPMed |
|
|
rs1460622235 CA349707346 |
77 | G>E | No |
ClinGen TOPMed |
|
|
rs777448999 CA1982299 RCV000900506 |
77 | G>R | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA349707341 rs1344402494 |
78 | P>R | No |
ClinGen gnomAD |
|
|
rs576470241 CA1982298 |
78 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA61455469 rs576470241 |
78 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA349707310 rs1574383704 |
83 | H>P | No |
ClinGen Ensembl |
|
| TCGA novel | 88 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM3425505 rs1167225025 CA349707271 |
89 | G>S | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA1982297 rs371967604 |
90 | G>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1172541208 CA349707262 |
90 | G>V | No |
ClinGen gnomAD |
|
|
CA61455467 rs866762484 |
91 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs965597407 CA61455466 |
94 | G>D | No |
ClinGen gnomAD |
|
|
rs965597407 CA349707235 |
94 | G>V | No |
ClinGen gnomAD |
|
|
rs1574383662 CA349707223 |
96 | V>G | No |
ClinGen Ensembl |
|
|
CA1982294 rs141868725 |
98 | L>F | No |
ClinGen ESP ExAC TOPMed |
|
|
CA349707212 rs1490934337 |
98 | L>W | No |
ClinGen gnomAD |
|
|
rs200957030 CA1982293 |
100 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA349707194 rs1195612679 |
101 | S>I | No |
ClinGen gnomAD |
|
|
rs1195612679 CA349707192 |
101 | S>N | No |
ClinGen gnomAD |
|
|
CA349707190 rs1337968960 |
101 | S>R | No |
ClinGen gnomAD |
|
|
rs555390922 CA1982291 |
102 | W>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs201934930 CA1982292 |
102 | W>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1982290 rs202187508 |
103 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1406428371 CA349707177 |
104 | G>S | No |
ClinGen gnomAD |
|
|
CA349707153 rs1345884022 |
107 | R>M | No |
ClinGen gnomAD |
|
|
rs1327881275 CA349707145 |
108 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA1982287 rs764647204 |
109 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 112 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761188631 CA1982285 |
114 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA349707109 rs1298740547 |
114 | R>W | No |
ClinGen gnomAD |
|
|
CA349707105 rs1574383595 |
115 | R>* | No |
ClinGen Ensembl |
|
|
CA1982283 rs772516291 |
115 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs775965626 CA1982284 |
115 | R>T | No |
ClinGen ExAC gnomAD |
|
|
rs1181452666 CA349707093 |
117 | S>A | No |
ClinGen gnomAD |
|
| TCGA novel | 117 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1982281 rs772856006 |
119 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA349707072 rs1574383572 |
120 | E>K | No |
ClinGen Ensembl |
|
|
rs747683139 CA1982279 |
122 | R>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 122 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA349707054 rs1460456015 |
123 | K>E | No |
ClinGen gnomAD |
|
|
CA1982278 rs781060466 |
123 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA1982277 rs149522660 |
124 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1982275 rs779842799 COSM571204 |
127 | R>C | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA1982276 rs779842799 |
127 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1278608607 CA349707026 |
127 | R>H | No |
ClinGen gnomAD |
|
| TCGA novel | 127 | R>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs569863994 CA1982274 |
128 | S>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA349707001 rs1307580577 |
129 | K>N | No |
ClinGen gnomAD |
|
|
rs765438829 CA349706960 CA349706962 |
132 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765765441 CA61455462 |
132 | H>R | No |
ClinGen Ensembl |
|
|
CA61455461 rs187229119 |
133 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes NCI-TCGA TOPMed gnomAD |
|
CA1982270 rs753946659 |
136 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA349706877 rs1158269483 |
139 | E>K | No |
ClinGen gnomAD |
|
|
CA349706864 rs1468919919 |
140 | Q>K | No |
ClinGen gnomAD |
|
|
CA349706832 rs1365950504 |
143 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
CA349706831 rs1365950504 |
143 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs764549403 CA1982269 |
144 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA349706830 rs764549403 |
144 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA61455460 rs904847231 |
145 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA1982268 rs761241688 |
146 | Q>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 148 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA349706772 rs1574383486 |
150 | S>N | No |
ClinGen Ensembl |
|
|
rs776100913 CA1982267 |
151 | S>R | No |
ClinGen ExAC |
|
|
rs762405282 CA349706733 COSM208381 |
153 | R>* | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs762405282 CA1982265 |
153 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1442555490 CA349706731 |
153 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1553505929 RCV000598612 |
154 | R>missing | No |
ClinVar dbSNP |
|
|
rs772799612 CA1982264 |
154 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1457688906 CA349706721 |
154 | R>L | No |
ClinGen gnomAD |
|
|
rs772799612 CA1982263 |
154 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA349706711 rs1559062616 |
155 | R>K | No |
ClinGen Ensembl |
|
|
rs1559062611 CA349706683 |
157 | L>I | No |
ClinGen Ensembl |
|
|
rs1161376512 CA349706669 |
158 | L>H | No |
ClinGen gnomAD |
|
|
CA349706659 rs776187473 |
159 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1982258 rs776187473 |
159 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1982259 rs138026464 |
159 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs746976343 CA1982256 |
161 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1474341575 COSM476265 CA349706584 |
165 | P>L | kidney Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs779068288 CA1982253 |
165 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA349706580 rs1159586684 |
166 | P>A | No |
ClinGen gnomAD |
|
|
CA1982251 RCV000414727 rs757470455 |
166 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs757470455 CA349706575 |
166 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs750496546 | 167 | T>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs777940347 CA1982248 |
167 | T>I | No |
ClinGen ExAC gnomAD |
|
| rs750496546 | 167 | T>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA61455458 rs1052241600 |
169 | A>V | No |
ClinGen Ensembl |
|
|
rs1448334247 CA349706517 |
171 | I>N | No |
ClinGen gnomAD |
|
|
CA61455455 rs532995269 |
174 | A>E | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA1982245 rs768126831 |
174 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs768126831 CA1982244 |
174 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs764851450 CA1982240 |
182 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1342533522 CA349706387 |
183 | P>L | No |
ClinGen gnomAD |
|
|
CA1982239 rs6433711 |
184 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1982238 rs6433711 |
184 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 184 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA61455454 rs950251211 |
185 | Y>C | No |
ClinGen TOPMed |
|
|
rs1404717522 CA349706365 |
186 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 188 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA349706335 rs1364144029 |
188 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 190 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA349706291 rs1476117800 |
191 | D>E | No |
ClinGen gnomAD |
|
|
rs547491886 CA1982234 |
191 | D>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs547491886 CA1982233 |
191 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs1343948121 CA349706283 |
192 | Y>C | No |
ClinGen TOPMed |
|
|
rs1320921617 CA349706286 |
192 | Y>N | No |
ClinGen TOPMed |
|
| TCGA novel | 193 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA349706268 rs1263434367 |
193 | K>R | No |
ClinGen gnomAD |
|
|
CA349706258 rs1430515402 |
194 | C>G | No |
ClinGen TOPMed |
|
|
CA349706236 rs1489781544 |
195 | H>L | No |
ClinGen gnomAD |
|
| TCGA novel | 195 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 196 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1982231 rs778745804 |
199 | H>R | No |
ClinGen ExAC gnomAD |
|
|
RCV000886105 COSM208380 CA1982227 rs77063376 |
202 | R>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA1982226 rs752822096 |
202 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA61455452 rs752822096 |
202 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM717589 rs77063376 CA1982228 |
202 | R>S | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs781775234 CA1982225 |
203 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781775234 CA349706142 |
203 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1982224 rs755522318 |
203 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
rs1295616573 CA349706118 |
205 | F>L | No |
ClinGen gnomAD |
|
|
rs371626346 CA1982223 |
205 | F>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1207896051 CA349706094 |
207 | E>* | No |
ClinGen TOPMed |
|
|
CA1982221 rs763156857 |
209 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA349706035 rs1466725261 |
211 | D>V | No |
ClinGen gnomAD |
|
|
rs1462831927 CA349706021 |
212 | I>T | No |
ClinGen TOPMed |
|
|
rs1229650415 CA349705990 |
215 | D>N | No |
ClinGen gnomAD |
|
|
CA1982220 rs753538467 |
215 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1982217 rs368608138 |
220 | S>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1982216 rs772045962 |
220 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA349705886 rs1406489042 |
222 | S>R | No |
ClinGen TOPMed |
|
|
rs78860696 CA1982214 |
222 | S>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1982213 rs770773789 |
226 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1459128908 CA349705814 |
227 | I>M | No |
ClinGen gnomAD |
|
|
CA349705793 rs1435730845 |
229 | V>F | No |
ClinGen gnomAD |
|
|
rs1177642902 CA349705761 |
232 | M>T | No |
ClinGen TOPMed |
|
|
rs1203151524 CA349705763 |
232 | M>V | No |
ClinGen gnomAD |
|
|
CA349705753 rs1408683230 |
233 | V>L | No |
ClinGen TOPMed |
|
|
CA1982211 rs200771593 |
234 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1982210 rs199969326 |
236 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1220166457 CA349705727 |
237 | R>C | No |
ClinGen gnomAD |
|
|
CA349705726 rs748290141 |
237 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1982209 rs748290141 |
237 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1045114170 COSM208379 CA61455451 |
239 | S>P | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA1982207 rs754977043 CA349705680 |
244 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374953886 CA1982206 |
246 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1982205 rs780363626 |
247 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA61455450 rs896214004 |
249 | G>D | No |
ClinGen gnomAD |
|
|
rs758852067 CA1982203 |
254 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs750780087 CA349705614 |
255 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1982202 rs750780087 |
255 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1982199 rs752296395 |
256 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA1982201 rs763774797 |
256 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755740310 CA1982200 |
256 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA61455449 COSM1010004 rs1052271430 |
257 | F>L | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs1255789868 CA349705600 |
258 | F>L | No |
ClinGen TOPMed |
|
|
CA349705596 rs1438588949 |
258 | F>Y | No |
ClinGen TOPMed |
|
|
CA349705586 rs1184107328 |
259 | D>E | No |
ClinGen TOPMed |
|
|
CA349705593 rs1242466863 |
259 | D>N | No |
ClinGen gnomAD |
|
|
CA349705580 rs1183005733 |
260 | V>G | No |
ClinGen gnomAD |
|
|
CA349705584 rs1231208480 |
260 | V>M | No |
ClinGen TOPMed |
|
|
CA1982198 COSM717590 rs767044845 |
261 | H>R | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs758912781 CA1982197 |
263 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs1211131398 CA349705556 |
264 | T>I | No |
ClinGen gnomAD |
|
|
rs77493999 CA1982195 |
265 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs77493999 CA61455448 |
265 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs1250406335 CA349705543 |
267 | L>P | No |
ClinGen gnomAD |
|
|
CA349705540 rs1380766563 |
268 | P>A | No |
ClinGen gnomAD |
|
|
rs1303045723 CA349705537 |
268 | P>R | No |
ClinGen gnomAD |
|
|
rs1203865538 CA349705529 |
269 | C>* | No |
ClinGen gnomAD |
|
|
CA349705521 rs1172332973 |
270 | S>R | No |
ClinGen TOPMed |
|
|
CA1982190 rs776930305 |
271 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs768790032 CA1982189 |
272 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1160170535 CA349705508 |
272 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1160170535 CA349705510 |
272 | T>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1283925727 CA349705501 COSM283899 |
273 | E>D | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA349705499 rs1559062310 |
274 | N>D | No |
ClinGen Ensembl |
|
|
CA349705495 rs1181753388 |
274 | N>S | No |
ClinGen gnomAD |
|
|
rs776797403 CA61455447 |
276 | N>K | No |
ClinGen Ensembl |
|
|
CA1982186 rs780674695 |
279 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1982185 rs758797364 |
279 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA349705456 rs1182538799 |
280 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
CA349705457 rs1182538799 |
280 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA349705443 rs1574383031 |
282 | W>* | No |
ClinGen Ensembl |
|
|
rs779270620 CA1982183 |
283 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA349705424 rs1559062288 |
285 | G>S | No |
ClinGen Ensembl |
|
|
CA61455446 rs999906948 |
287 | I>N | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 288 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs944135782 CA61455445 |
291 | G>E | No |
ClinGen Ensembl |
|
|
rs767064669 CA1982180 CA349705385 |
291 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754584578 CA1982178 |
293 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1367303842 CA349705371 |
293 | H>Y | No |
ClinGen gnomAD |
|
|
rs1381166319 CA349705362 |
294 | G>A | No |
ClinGen gnomAD |
|
|
CA61455444 rs982820738 |
294 | G>R | No |
ClinGen Ensembl |
|
|
rs751004065 CA1982177 |
295 | E>G | No |
ClinGen ExAC gnomAD |
|
|
COSM1663418 rs1299721819 CA349705351 |
296 | T>K | kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1299721819 CA349705349 |
296 | T>M | No |
ClinGen gnomAD |
|
| TCGA novel | 298 | N>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs78328794 CA1982176 |
298 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs554532630 CA61455442 |
299 | I>N | No |
ClinGen Ensembl |
|
|
rs1559062261 CA349705335 |
299 | I>V | No |
ClinGen Ensembl |
|
| TCGA novel | 300 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762823513 CA1982175 |
302 | A>T | No |
ClinGen ExAC gnomAD |
|
| rs949723171 | 304 | Q>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1982174 COSM3379869 rs773248132 |
304 | Q>E | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA349704030 rs1297598416 |
305 | D>V | No |
ClinGen gnomAD |
|
|
COSM3425503 CA1982163 rs76865936 COSM3425504 |
306 | R>* | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA1982162 rs780940196 |
306 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA1982161 rs779465413 |
307 | R>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs779465413 CA1982160 |
307 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1428866590 CA349704013 |
309 | N>D | No |
ClinGen gnomAD |
|
|
rs757918045 CA1982159 |
309 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765054096 CA1982158 |
312 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1456049901 COSM1401514 CA349703985 COSM1401515 |
313 | D>N | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA349703969 rs1362061889 |
315 | L>I | No |
ClinGen TOPMed |
|
|
CA349703951 rs1198756855 |
318 | Y>H | No |
ClinGen gnomAD |
|
|
rs753542330 CA1982155 |
319 | K>* | No |
ClinGen ExAC gnomAD |
|
|
rs760827945 CA1982153 |
325 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA1982151 rs772048606 |
326 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs774905208 CA1982149 |
327 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1982150 rs774905208 |
327 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA349703883 rs1402413819 |
328 | I>V | No |
ClinGen gnomAD |
|
|
CA1982146 rs543188674 |
329 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1467875136 CA349703864 |
331 | S>C | No |
ClinGen gnomAD |
|
|
rs1378629549 CA349703848 |
333 | G>C | No |
ClinGen gnomAD |
|
|
CA349703850 rs1378629549 |
333 | G>S | No |
ClinGen gnomAD |
|
|
CA1982145 rs770158287 |
334 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA61449350 rs770158287 |
334 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA1982144 rs746650054 |
335 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1240572730 CA349703820 |
337 | G>D | No |
ClinGen gnomAD |
|
| TCGA novel | 339 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1276060984 CA349703803 |
340 | Q>R | Variant assessed as Somatic; 9.245e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs758036264 CA1982142 |
342 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1259890730 CA349703773 |
344 | K>N | No |
ClinGen gnomAD |
|
|
CA61449349 rs150772089 |
345 | I>M | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA1982141 rs749945540 |
345 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA61449348 rs370184249 |
346 | P>A | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs77477862 CA1982140 |
349 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA349703728 rs1447609914 |
352 | T>A | No |
ClinGen gnomAD |
|
|
rs757235336 CA1982139 |
354 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1332412348 CA349703710 |
354 | D>G | No |
ClinGen gnomAD |
|
|
rs753757478 CA1982138 |
356 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs1392647557 CA349703692 |
357 | K>Q | No |
ClinGen TOPMed |
|
|
rs1263574366 CA349704254 |
358 | V>I | No |
ClinGen gnomAD |
|
|
rs1372861684 CA349704242 |
359 | M>I | No |
ClinGen gnomAD |
|
|
CA61438516 rs755213594 |
360 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM117843 rs755213594 CA1982115 |
360 | Q>K | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs766449209 CA1982113 |
361 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA1982114 rs147176225 |
361 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 366 | C>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1982112 rs763027501 |
366 | C>Y | No |
ClinGen ExAC |
|
|
CA349704191 rs1461930860 |
367 | G>R | No |
ClinGen gnomAD |
|
|
CA349704181 rs1357222693 |
368 | I>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs560754146 CA1982110 |
369 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1342634171 CA349704169 |
370 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA349704172 rs1245722252 |
370 | I>V | No |
ClinGen TOPMed |
|
|
CA349704163 rs1354280567 |
371 | S>C | No |
ClinGen Ensembl |
|
|
COSM1219925 rs1348635335 COSM1219924 CA349704151 |
373 | A>T | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA349704124 rs1405417004 |
377 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs769095538 CA1982107 |
383 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs1389820563 CA349704072 |
384 | E>G | No |
ClinGen TOPMed |
|
|
rs745549821 CA1982106 |
385 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA349703658 rs1378399516 |
389 | L>F | No |
ClinGen gnomAD |
|
|
CA61437770 rs78426895 |
391 | E>K | No |
ClinGen Ensembl |
|
|
rs1251277832 CA349703642 |
392 | V>A | No |
ClinGen gnomAD |
|
|
CA1982076 rs376465717 |
392 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1482364008 CA349703622 |
395 | D>A | No |
ClinGen gnomAD |
|
|
CA349703616 rs1249519364 |
396 | L>F | No |
ClinGen TOPMed |
|
|
rs1468696313 CA349703614 |
396 | L>P | No |
ClinGen gnomAD |
|
|
rs1211242781 CA349703604 |
398 | E>K | No |
ClinGen gnomAD |
|
|
rs746798781 CA1982073 |
401 | T>S | No |
ClinGen ExAC gnomAD |
|
|
COSM717596 CA61437768 rs990258736 |
402 | D>E | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs202148211 CA61437766 |
405 | K>I | No |
ClinGen Ensembl |
|
|
CA1982072 rs780299077 |
406 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750565448 CA1982070 |
408 | K>R | No |
ClinGen ExAC |
|
|
rs1311337199 CA349703515 |
410 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
rs77789692 CA61437765 |
411 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
| TCGA novel | 412 | H>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA61437764 rs911454924 |
412 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA1982068 rs754410518 |
413 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1219930 COSM1219929 CA1982067 rs754410518 |
413 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
RCV000522384 rs779083062 CA1982069 |
413 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1358443920 CA349703494 |
414 | A>D | No |
ClinGen gnomAD |
|
|
CA349703497 rs1473383022 |
414 | A>T | No |
ClinGen gnomAD |
|
| TCGA novel | 414 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs74460362 CA61437763 |
415 | Q>* | No |
ClinGen Ensembl |
|
|
rs761188712 CA1982065 |
415 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 415 | Q>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1982066 rs764685495 |
415 | Q>R | No |
ClinGen ExAC |
|
|
CA349703481 rs1405678595 |
416 | T>I | No |
ClinGen TOPMed |
|
| TCGA novel | 420 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM1009992 COSM1009993 rs762697508 CA1982062 |
422 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA1982061 rs772671095 |
423 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs769357954 CA1982060 |
425 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA61437761 rs955218387 |
430 | D>N | No |
ClinGen Ensembl |
|
|
rs1488153953 CA349703389 |
431 | I>V | No |
ClinGen gnomAD |
|
|
CA1982055 rs201501678 |
432 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs200330914 CA1982054 |
433 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1982025 rs755435688 |
435 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA349702772 rs1435358998 |
436 | V>A | No |
ClinGen gnomAD |
|
|
CA1982023 rs146599987 |
440 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs751834917 CA1982024 |
440 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA1982022 rs756929828 |
441 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
CA61435395 rs75920749 |
443 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs75920749 CA1982020 |
443 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
TCGA novel CA1982018 rs369303784 |
444 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen ESP ExAC gnomAD |
|
CA1982019 rs72948844 |
444 | L>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA349702712 rs1446091753 |
445 | M>I | No |
ClinGen gnomAD |
|
|
CA1982016 rs767353102 |
445 | M>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767353102 CA1982015 |
445 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1982014 rs773995449 |
447 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773995449 CA1982013 |
447 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770808795 CA1982012 |
448 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749525622 CA1982011 |
450 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773508616 CA1982010 |
450 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs770054426 CA1982009 |
450 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1574241941 CA349702676 |
451 | A>V | No |
ClinGen Ensembl |
|
| TCGA novel | 452 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA61435394 rs267599013 |
452 | D>V | No |
ClinGen Ensembl |
|
|
rs142247133 CA1982007 |
453 | A>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA349702667 rs142247133 |
453 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA349702657 COSM120996 rs769017439 |
454 | E>D | upper_aerodigestive_tract Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA349702647 rs1395930234 |
456 | S>G | No |
ClinGen TOPMed |
|
|
rs747505553 CA1982005 |
456 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1243001543 CA349701791 |
458 | K>R | No |
ClinGen TOPMed |
|
|
rs780484841 CA1981982 |
459 | E>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA349701779 rs1356376653 |
460 | S>G | No |
ClinGen gnomAD |
|
|
rs1277892308 CA349701770 |
461 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
CA1981981 rs746228686 |
461 | M>R | No |
ClinGen ExAC gnomAD |
|
|
rs746228686 CA1981980 |
461 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1277892308 CA349701771 |
461 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1262801063 CA349701762 |
462 | E>G | No |
ClinGen TOPMed |
|
|
CA349701764 rs1191761962 |
462 | E>K | No |
ClinGen TOPMed |
|
| TCGA novel | 464 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1319634913 CA349701739 |
465 | S>* | No |
ClinGen gnomAD |
|
|
rs1319634913 CA349701738 COSM228880 COSM228879 |
465 | S>L | skin [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA1981977 rs78731210 |
466 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
RCV000658890 rs1553481032 CA349701733 |
466 | Y>C | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA1981974 rs751602560 |
468 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766411719 CA1981973 |
469 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750217364 CA1981971 |
471 | I>R | No |
ClinGen ExAC gnomAD |
|
|
rs750217364 CA1981972 |
471 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA61431288 rs561899402 |
473 | N>D | No |
ClinGen 1000Genomes |
|
|
rs1242595531 CA349701687 |
473 | N>I | No |
ClinGen gnomAD |
|
|
CA1981969 rs761976960 |
475 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1981966 rs768633215 |
479 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs776044222 CA1981964 |
480 | A>T | No |
ClinGen ExAC |
|
| TCGA novel | 481 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA349701625 rs1335655184 |
483 | G>D | No |
ClinGen gnomAD |
|
|
CA349701621 rs1244190220 |
484 | L>F | No |
ClinGen gnomAD |
|
|
CA1981960 rs774721020 |
486 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA349701593 rs1364574150 |
488 | I>T | No |
ClinGen gnomAD |
|
|
CA349701587 rs148715964 |
489 | S>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA349701588 rs148715964 |
489 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1981959 rs148715964 |
489 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1981958 rs747768007 |
490 | D>G | No |
ClinGen ExAC |
|
|
CA349701569 rs1436338887 |
492 | Y>H | No |
ClinGen gnomAD |
|
|
CA1981957 rs780883021 |
493 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs1327260217 CA349701547 |
495 | P>A | No |
ClinGen gnomAD |
|
|
rs200628959 CA1981956 |
495 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1981953 rs143543408 |
496 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM571210 COSM571211 rs372031081 CA1981952 |
496 | R>H | lung [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA1981954 rs143543408 |
496 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs764949656 CA1981951 |
498 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1981950 rs757022770 |
499 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs1379719180 CA349701263 |
501 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA1981929 CA61429054 rs111708910 |
502 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1414001448 CA349701247 |
503 | Q>H | No |
ClinGen TOPMed |
|
|
rs1159593848 CA349701250 |
503 | Q>P | No |
ClinGen TOPMed |
|
|
rs756353935 CA1981928 |
506 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA349701211 rs1190496727 |
509 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1233721710 CA349701208 |
509 | I>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1190496727 CA349701210 |
509 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA349701200 COSM1401501 COSM1401502 rs1331676552 |
510 | R>I | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs752878626 CA349701198 |
510 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 511 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA61429053 rs866406296 |
512 | V>F | No |
ClinGen gnomAD |
|
|
CA1981925 rs767596657 |
514 | C>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1691420 rs1474347497 COSM1691421 CA349701165 |
516 | P>S | skin [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1353665367 CA349701155 |
517 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1327433951 CA349701160 COSM1305881 COSM1305880 |
517 | I>V | Variant assessed as Somatic; impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs1012928196 CA61429052 |
518 | W>C | No |
ClinGen gnomAD |
|
|
CA349701139 rs1558954957 |
519 | N>K | No |
ClinGen Ensembl |
|
|
CA349701144 rs1224983889 |
519 | N>Y | No |
ClinGen gnomAD |
|
|
CA1981924 rs149543095 |
520 | S>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs375546228 CA61429051 |
521 | N>K | No |
ClinGen ESP ExAC gnomAD |
|
|
CA61429050 rs190378090 |
524 | I>L | No |
ClinGen 1000Genomes |
|
|
rs1377096331 CA349701100 |
525 | I>T | No |
ClinGen gnomAD |
|
|
rs766878037 CA1981922 |
525 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs763272995 CA1981921 |
526 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs765713190 CA1981901 |
528 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA1981900 rs193147585 |
529 | Q>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1264310086 CA349701042 |
532 | N>K | No |
ClinGen gnomAD |
|
|
rs1210670884 CA349701045 |
532 | N>S | No |
ClinGen TOPMed |
|
|
CA349701039 rs1218757395 |
533 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1481773151 CA349701033 |
534 | L>V | No |
ClinGen TOPMed |
|
|
rs569168263 CA61428774 |
535 | D>G | No |
ClinGen gnomAD |
|
|
rs569168263 CA349701024 |
535 | D>V | No |
ClinGen gnomAD |
|
|
rs775354403 CA1981899 |
536 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1338204633 CA349701010 |
537 | K>N | No |
ClinGen gnomAD |
|
|
CA1981897 rs759017607 |
538 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA1981896 rs773934654 |
538 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1366819364 CA349700999 |
539 | F>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1174128461 CA349700990 |
540 | D>E | No |
ClinGen TOPMed |
|
|
rs770309011 CA1981895 |
541 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs777556697 CA61428773 |
542 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1981893 rs777556697 |
542 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA349700973 rs1371651398 |
543 | D>G | No |
ClinGen gnomAD |
|
|
CA349700977 rs1465415051 |
543 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1371009276 CA349700966 |
544 | Q>R | No |
ClinGen gnomAD |
|
|
CA1981891 rs374570863 |
545 | R>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs374570863 CA61428772 |
545 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1981890 rs781441234 |
546 | L>I | No |
ClinGen ExAC |
|
|
rs1558953314 CA349700955 |
546 | L>P | No |
ClinGen Ensembl |
|
|
CA1981889 rs755211669 |
547 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1408161032 CA349700950 |
547 | F>S | No |
ClinGen gnomAD |
|
|
rs751687816 CA1981888 |
548 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs780184140 CA1981887 |
548 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1401879746 CA349700745 |
549 | A>V | No |
ClinGen gnomAD |
|
|
CA61428674 rs1050149131 |
550 | F>S | No |
ClinGen Ensembl |
|
|
CA1981858 rs765914071 |
551 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs764684230 CA1981855 |
553 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1981853 rs761739144 |
558 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs112198006 CA61428672 |
560 | N>S | No |
ClinGen Ensembl |
|
|
rs1284532566 CA349700546 |
563 | M>T | No |
ClinGen TOPMed |
|
|
rs776490708 CA1981852 |
565 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA349700510 rs1212109720 |
566 | Q>E | No |
ClinGen TOPMed |
|
|
rs148955609 CA1981851 |
568 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA349700466 rs1574172648 |
569 | K>* | No |
ClinGen Ensembl |
|
|
rs149795546 CA1981850 |
570 | S>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs775823865 CA1981849 |
571 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 571 | W>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 571 | W>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs891640525 CA61428671 |
572 | A>G | No |
ClinGen TOPMed |
|
|
CA349700426 rs1285302796 |
572 | A>T | No |
ClinGen gnomAD |
|
|
CA349700397 rs1215393156 |
574 | Q>K | No |
ClinGen Ensembl |
|
|
rs1239977493 CA349700355 |
578 | L>P | No |
ClinGen gnomAD |
|
|
CA349700359 rs1420983005 |
578 | L>V | No |
ClinGen TOPMed |
|
|
COSM1529463 rs147662486 CA1981826 COSM1529464 |
580 | V>L | lung Variant assessed as Somatic; 4.622e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA1981825 rs771195129 |
581 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1422603225 CA349702173 |
584 | H>R | No |
ClinGen gnomAD |
|
|
CA1981823 rs78384547 |
586 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs770225114 CA1981822 |
587 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA349702125 rs1232651972 |
588 | S>P | No |
ClinGen gnomAD |
|
|
CA61423663 rs144516476 |
589 | K>E | No |
ClinGen ESP |
|
|
CA349702109 rs1193984005 |
589 | K>R | No |
ClinGen gnomAD |
|
|
rs748648316 CA1981821 |
590 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs1394964230 CA349702094 |
590 | A>V | No |
ClinGen TOPMed |
|
|
CA349702087 rs1558929335 |
591 | E>A | No |
ClinGen Ensembl |
|
|
CA349702080 rs1307070302 |
592 | V>I | No |
ClinGen TOPMed |
|
|
rs774783653 CA1981807 |
601 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs759516692 CA61419423 |
603 | V>A | No |
ClinGen Ensembl |
|
|
CA349700136 rs1232583213 |
603 | V>M | No |
ClinGen gnomAD |
|
|
CA61419422 rs76110544 |
605 | E>K | No |
ClinGen Ensembl |
|
|
rs763216873 CA349700110 |
607 | A>D | No |
ClinGen ExAC |
|
|
CA1981805 rs763216873 |
607 | A>V | No |
ClinGen ExAC |
|
|
rs1439967288 CA349700104 |
608 | I>T | No |
ClinGen gnomAD |
|
|
RCV000973017 CA1981802 rs77934668 |
609 | D>N | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs77934668 CA1981803 |
609 | D>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA61419421 rs894764619 |
612 | H>D | No |
ClinGen TOPMed gnomAD |
|
|
rs372571698 CA1981800 |
613 | F>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 614 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA349700056 rs1444087522 |
615 | D>Y | No |
ClinGen gnomAD |
|
|
rs1312089486 CA349700033 |
618 | L>P | No |
ClinGen gnomAD |
|
|
rs370029404 CA1981798 |
618 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1981795 rs569659163 |
619 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs376525903 CA1981796 |
619 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs143303102 CA1981794 |
620 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA61419419 rs867192187 |
622 | A>V | No |
ClinGen Ensembl |
|
|
rs767560338 CA1981791 |
623 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs752636519 CA1981792 |
623 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1471297033 CA349700006 |
623 | M>V | No |
ClinGen gnomAD |
|
|
CA61419418 rs373487547 |
624 | I>F | No |
ClinGen ESP TOPMed |
|
|
CA349699998 rs1484967738 |
624 | I>T | No |
ClinGen gnomAD |
|
|
CA349699989 rs1414998299 |
625 | T>I | No |
ClinGen TOPMed |
|
|
rs754868041 CA1981790 |
626 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA349699982 rs1456989236 |
627 | A>S | No |
ClinGen TOPMed |
|
|
CA1981788 rs147026038 |
628 | L>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1981789 rs147026038 |
628 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs777041963 CA1981783 |
629 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs142279060 CA1981784 |
629 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs769132488 CA1981782 |
631 | F>L | No |
ClinGen ExAC |
|
|
CA349699958 rs1373617134 |
631 | F>S | No |
ClinGen gnomAD |
|
|
rs1412766762 CA349699948 |
632 | M>I | No |
ClinGen gnomAD |
|
|
CA349699953 rs748751920 |
632 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748751920 CA1981781 |
632 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA349699930 rs1452991168 |
635 | G>A | No |
ClinGen gnomAD |
|
|
rs775868111 CA1981780 |
635 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1981779 rs772360696 |
636 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1981778 rs539536729 |
637 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs777469299 CA1981777 |
638 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777469299 CA349699914 |
638 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA349699912 rs1574084205 |
638 | Q>R | No |
ClinGen Ensembl |
|
|
CA349699905 rs1261470151 |
639 | K>R | No |
ClinGen TOPMed |
|
|
CA1981773 rs189421632 |
641 | K>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs149955405 CA1981772 |
642 | I>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs142121734 CA1981769 |
642 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374079378 CA1981770 |
642 | I>T | No |
ClinGen ESP ExAC gnomAD |
|
|
rs149955405 CA1981771 |
642 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 643 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA61419417 rs1015110503 |
643 | D>Y | No |
ClinGen Ensembl |
|
|
rs758194850 CA349699873 |
644 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA1981768 rs766290837 |
644 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA1981767 rs758194850 |
644 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
CA349699846 rs1203561456 |
646 | T>I | No |
ClinGen gnomAD |
|
|
rs572256340 CA1981748 |
648 | C>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1981747 rs750207873 |
651 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA349699762 rs760731175 |
659 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA1981742 rs760731175 |
659 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs576232838 CA1981743 |
659 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA1981740 rs539571955 |
661 | V>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1574083852 CA349699748 |
661 | V>G | No |
ClinGen Ensembl |
|
|
rs146111360 CA1981739 |
662 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs746483172 CA1981733 |
664 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776409074 CA1981735 |
664 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1173225465 CA349699732 |
664 | H>Y | No |
ClinGen gnomAD |
|
|
CA349699718 rs1292022939 |
666 | W>* | No |
ClinGen TOPMed |
|
|
rs780187429 CA1981732 |
666 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs745755269 CA1981730 |
668 | H>L | No |
ClinGen ExAC gnomAD |
|
|
rs745755269 CA1981731 |
668 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs756945686 CA1981728 |
672 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1054131182 CA61419404 |
674 | Q>P | No |
ClinGen TOPMed |
|
|
rs374929040 CA1981727 |
676 | M>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 678 | A>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs201629965 CA1981725 |
678 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs924592532 CA61419403 |
678 | A>V | No |
ClinGen TOPMed |
|
|
CA1981704 rs754995449 |
682 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1427890482 CA349387583 |
682 | T>I | No |
ClinGen TOPMed |
|
|
rs1402240244 CA349387565 |
684 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1402240244 CA349387567 |
684 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs946309422 CA60932229 |
684 | G>R | No |
ClinGen Ensembl |
|
|
rs1402240244 CA349387564 |
684 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs914715469 CA60932220 CA349387551 |
685 | F>L | No |
ClinGen gnomAD |
|
|
CA1981703 rs752171199 |
686 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs1463147984 CA349387517 |
688 | I>T | No |
ClinGen TOPMed |
|
|
rs117534006 CA1981700 |
691 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs117534006 CA349387493 |
691 | E>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs750340767 CA60932202 |
695 | L>V | No |
ClinGen Ensembl |
|
|
CA1981699 rs74666005 |
696 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs74666005 CA1981698 |
696 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1981697 rs549731107 |
696 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1981695 rs758968516 |
697 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs774390793 CA349387410 |
699 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774390793 CA1981694 |
699 | V>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA349387398 rs1348803636 |
701 | C>R | No |
ClinGen gnomAD |
|
|
rs770836002 CA1981693 |
703 | C>R | No |
ClinGen ExAC |
|
|
rs1229365301 CA349387377 |
703 | C>Y | No |
ClinGen gnomAD |
|
|
rs532206264 CA1981691 |
705 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs565089042 CA60932156 |
705 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs781263139 CA1981688 |
707 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA349387325 rs1240191777 |
707 | D>G | No |
ClinGen TOPMed |
|
|
rs559896956 CA1981689 |
707 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs755125283 CA1981687 |
708 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771976509 CA60932124 |
709 | R>G | No |
ClinGen TOPMed |
|
|
CA349387290 rs1380095835 |
709 | R>S | No |
ClinGen gnomAD |
|
|
CA1981686 rs747036692 |
710 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1413299130 CA349387226 |
714 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA349387162 rs1161722345 |
717 | A>T | No |
ClinGen TOPMed |
|
| TCGA novel | 717 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA349384974 rs1272774854 |
719 | S>G | No |
ClinGen gnomAD |
|
|
rs1344945500 CA349384928 |
720 | G>A | No |
ClinGen gnomAD |
|
|
CA60927465 rs994758500 |
723 | L>P | No |
ClinGen TOPMed |
|
|
CA349384872 rs1329564574 |
723 | L>V | No |
ClinGen TOPMed |
|
|
rs757737675 CA1981663 |
724 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs754133858 CA1981662 |
725 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA1981661 rs778153055 |
726 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs17400325 CA1981660 |
727 | Y>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA349384819 rs1276296588 |
727 | Y>D | No |
ClinGen gnomAD |
|
|
rs1326612124 CA349384710 |
732 | T>A | No |
ClinGen gnomAD |
|
|
rs1431487009 CA349384678 |
733 | L>V | No |
ClinGen gnomAD |
|
|
rs1371149852 CA349384658 |
734 | E>K | No |
ClinGen gnomAD |
|
|
CA349384609 rs1434228777 |
735 | H>R | No |
ClinGen gnomAD |
|
|
CA349384587 rs1393478467 |
736 | H>Y | No |
ClinGen gnomAD |
|
|
rs1232601795 CA349384507 |
739 | N>S | No |
ClinGen gnomAD |
|
|
rs1180128048 CA349384458 |
741 | A>G | No |
ClinGen gnomAD |
|
|
CA1981655 rs144340688 |
741 | A>T | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1180128048 CA349384457 |
741 | A>V | No |
ClinGen gnomAD |
|
|
CA1981652 rs761760055 |
742 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA60927441 rs756663815 |
743 | M>I | No |
ClinGen Ensembl |
|
|
CA60927439 rs774047059 |
744 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
rs776319665 CA349384370 |
744 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776319665 CA1981651 |
744 | I>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA60927433 rs79840971 |
745 | L>F | No |
ClinGen Ensembl |
|
|
rs1187516211 CA349384343 |
746 | Q>R | No |
ClinGen Ensembl |
|
|
rs768429888 CA1981650 |
748 | E>G | No |
ClinGen ExAC TOPMed |
|
|
CA1981630 rs778000708 |
749 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA349383041 rs1413073522 |
750 | H>D | No |
ClinGen TOPMed gnomAD |
|
|
CA349383022 rs1376868314 |
750 | H>Q | No |
ClinGen TOPMed |
|
|
rs767826171 CA1981629 |
751 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs952266709 CA60926137 |
752 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
COSM1236109 COSM1236108 rs201572288 CA1981627 |
756 | L>Q | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs901555337 CA60926117 |
758 | S>A | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 759 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs147492800 CA1981625 |
759 | K>R | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
rs147492800 CA60926113 |
759 | K>T | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
rs761476957 CA1981622 |
761 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1981624 rs749815200 |
761 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA60926107 rs1014746893 |
761 | Y>H | No |
ClinGen Ensembl |
|
|
CA349382764 rs1323431801 |
764 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1323431801 CA349382769 |
764 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1297025939 CA349382743 |
765 | M>I | No |
ClinGen gnomAD |
|
|
rs748487159 CA1981619 |
769 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000274502 CA10605493 rs886043416 |
770 | Q>* | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA349382610 rs1389734927 |
772 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
CA349382615 rs1389734927 |
772 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1325644388 CA349382596 |
773 | L>S | No |
ClinGen gnomAD |
|
|
rs1340692406 CA349382574 |
774 | A>T | No |
ClinGen TOPMed |
|
|
rs758078572 CA1981617 |
775 | T>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 776 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA60926069 rs150182442 |
778 | T>M | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA349382495 rs1203764470 |
778 | T>S | No |
ClinGen TOPMed |
|
|
rs756779426 CA1981614 |
779 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA1981613 TCGA novel rs753787322 |
780 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen ExAC TOPMed gnomAD |
|
rs370449746 CA1981594 |
783 | R>W | No |
ClinGen ESP ExAC gnomAD |
|
|
CA349378197 rs1207352136 |
784 | R>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1391338767 CA349378187 |
785 | T>A | No |
ClinGen gnomAD |
|
|
CA1981593 rs200101345 |
785 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1981592 rs756759776 |
787 | F>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA1981591 rs748809734 |
792 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1310336399 CA349377815 |
797 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs551673754 CA1981588 |
798 | W>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1981587 rs372901596 |
800 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 802 | N>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 802 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs866908355 CA60921769 |
802 | N>S | No |
ClinGen Ensembl |
|
| TCGA novel | 803 | H>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751767344 CA1981585 |
804 | R>C | No |
ClinGen ExAC gnomAD |
|
|
VAR_027056 rs75127279 CA1981584 |
804 | R>H | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs763032610 CA1981583 COSM717608 |
805 | D>G | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA349377546 rs1574037943 |
805 | D>H | No |
ClinGen Ensembl |
|
|
rs549357707 CA1981582 |
806 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1981581 COSM1009977 rs765162890 COSM1009976 |
808 | R>* | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs771814790 CA60921760 |
808 | R>Q | No |
ClinGen Ensembl |
|
|
rs1011892316 CA60920465 |
809 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1380588167 CA349375932 |
810 | M>T | No |
ClinGen TOPMed |
|
|
CA1981547 rs750723275 |
812 | M>I | No |
ClinGen ExAC TOPMed |
|
|
rs1427958845 CA349375856 |
812 | M>T | No |
ClinGen gnomAD |
|
|
CA60920457 rs79316285 |
813 | T>P | No |
ClinGen Ensembl |
|
|
CA349375783 rs1247193379 |
814 | A>T | No |
ClinGen TOPMed |
|
|
CA1981546 rs779077725 |
815 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs895073787 CA60920453 |
817 | L>F | No |
ClinGen Ensembl |
|
|
CA349375657 rs1282670569 |
817 | L>P | No |
ClinGen TOPMed |
|
|
rs1359125348 CA349375601 |
819 | A>T | No |
ClinGen TOPMed |
|
|
rs140269105 CA1981544 |
820 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA349375574 rs1245289445 |
821 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
RCV001008378 rs1574032569 |
823 | P>missing | No |
ClinVar dbSNP |
|
|
CA1981543 rs138099962 |
823 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs199572049 CA1981541 |
824 | W>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1251782905 CA349375530 |
824 | W>R | No |
ClinGen gnomAD |
|
|
CA60920431 rs542665122 |
825 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs542665122 CA1981540 |
825 | E>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs759818563 CA1981539 |
826 | I>S | No |
ClinGen ExAC |
|
|
CA349375370 rs1274779016 |
827 | S>Y | No |
ClinGen gnomAD |
|
|
rs1218214485 CA349375339 |
829 | Q>E | No |
ClinGen gnomAD |
|
|
rs1342506508 CA349375326 |
829 | Q>R | No |
ClinGen gnomAD |
|
|
rs1473852993 CA349373713 |
831 | A>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs75950476 CA1981510 |
833 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA60918288 rs1041677647 |
834 | V>I | No |
ClinGen Ensembl |
|
|
rs75226037 CA1981509 |
835 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA60918284 rs75226037 |
835 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs774138805 CA1981506 |
838 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA349373629 rs1192259914 |
838 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs770658136 CA1981505 |
838 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM476263 COSM476262 rs1265993805 CA349373625 |
839 | F>L | kidney [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA1981502 rs79903863 |
840 | E>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA60918258 rs990281591 |
840 | E>G | No |
ClinGen gnomAD |
|
|
rs79903863 CA1981503 |
840 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs79903863 CA60918266 |
840 | E>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1981499 COSM1613746 COSM1613745 rs911385258 |
844 | R>Q | liver [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
COSM1219931 CA1981501 rs201342035 COSM1219932 |
844 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA1981498 rs142433460 |
845 | E>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs755442820 CA1981497 |
847 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA60918244 rs978784506 |
849 | L>F | No |
ClinGen TOPMed |
|
|
CA349372931 rs1364814889 |
851 | L>P | No |
ClinGen gnomAD |
|
|
CA349372927 rs1318913391 |
852 | T>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA349372900 rs1325078705 |
853 | P>S | No |
ClinGen TOPMed |
|
|
CA349372876 rs1367006974 |
854 | S>L | No |
ClinGen TOPMed |
|
|
CA349372883 rs1346180477 |
854 | S>P | No |
ClinGen gnomAD |
|
|
CA1981461 rs201945280 |
855 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772883355 CA1981462 |
855 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs772883355 CA1981463 |
855 | A>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 856 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs996996246 CA60916269 |
856 | I>S | No |
ClinGen TOPMed |
|
|
rs776906205 CA1981459 |
858 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA1981460 rs761995773 |
858 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA349371512 rs773631747 |
859 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs79384192 CA1981457 |
859 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773631747 CA1981458 |
859 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
COSM571220 COSM571221 CA1981456 rs780232099 |
860 | N>K | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA349371493 rs528467210 |
861 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1981454 rs528467210 |
861 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1981455 rs551756249 |
861 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1376752062 CA349371475 |
863 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1216820978 CA349371470 |
863 | D>V | No |
ClinGen gnomAD |
|
|
rs1054683251 CA60916244 |
865 | L>P | No |
ClinGen TOPMed |
|
|
CA1981452 rs757630424 |
866 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs61306957 VAR_027057 CA1981450 |
867 | R>G | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA1981449 rs754536061 |
867 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs61306957 CA1981451 |
867 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM3798199 CA349371401 COSM3798200 rs1197698140 |
871 | E>* | Variant assessed as Somatic; impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs1197698140 CA349371400 |
871 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA349371368 rs371810618 |
873 | I>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA349371331 rs1346951139 |
876 | I>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs765007321 CA1981443 |
877 | C>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs563548902 CA1981444 |
877 | C>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1349248778 COSM1009975 CA349371307 COSM1009974 |
878 | M>I | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs74357545 CA1981442 |
878 | M>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
RCV000428049 rs74357545 CA1981441 |
878 | M>V | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA1981440 CA1981439 RCV000918102 rs374942202 |
880 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD ClinVar dbSNP |
|
|
CA1981420 rs138134819 |
885 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs753697968 CA1981419 |
888 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1390593150 CA349392843 |
888 | N>Y | No |
ClinGen gnomAD |
|
|
CA349392836 rs75437575 CA60927478 |
889 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs75437575 CA1981417 |
889 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1981416 rs370675083 |
890 | K>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1981414 rs200504859 |
893 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200504859 CA349392809 |
893 | P>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1188186933 CA349392812 |
893 | P>T | No |
ClinGen gnomAD |
|
|
rs1574077193 CA349392802 |
894 | M>T | No |
ClinGen Ensembl |
|
|
rs1206176468 CA349392806 |
894 | M>V | No |
ClinGen gnomAD |
|
|
CA349392785 rs1356323763 |
897 | S>A | No |
ClinGen gnomAD |
|
| TCGA novel | 899 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA349392772 rs1477937452 |
899 | A>T | No |
ClinGen gnomAD |
|
|
CA1981410 rs140291701 |
903 | S>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs773575444 CA1981409 |
905 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs746727471 CA1981407 |
909 | H>R | No |
ClinGen ExAC |
|
|
CA60927461 rs370058975 |
909 | H>Y | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA1981405 rs142110524 |
910 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1981404 rs745405038 |
912 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs529018398 CA1981403 |
912 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs529018398 COSM125263 CA1981402 |
912 | R>Q | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA1981401 rs753771205 |
913 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
rs201797877 CA1981399 |
915 | A>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
RCV000918243 rs144881528 CA1981400 |
915 | A>P | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA349392670 rs144881528 |
915 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201797877 CA1981398 |
915 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA60927437 rs199934450 |
917 | T>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1981397 rs199934450 |
917 | T>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA60927434 rs988114251 |
918 | A>P | No |
ClinGen Ensembl |
|
|
rs140155138 CA1981396 |
919 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1168157802 CA349392651 |
919 | S>P | No |
ClinGen gnomAD |
|
|
CA1981394 rs766307102 |
920 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs763569924 CA1981392 |
921 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA349392635 rs1278145927 |
922 | P>S | No |
ClinGen TOPMed |
|
|
CA349392626 rs1234600330 |
923 | A>D | No |
ClinGen TOPMed |
|
|
rs1287056702 CA349392621 |
924 | S>N | No |
ClinGen TOPMed |
|
|
CA1981385 rs773701952 |
925 | V>A | No |
ClinGen ExAC |
|
|
rs1265951925 CA349392607 |
926 | M>T | No |
ClinGen gnomAD |
|
|
CA60927380 rs74326729 |
927 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1574076961 CA349392593 |
928 | A>G | No |
ClinGen Ensembl |
|
| TCGA novel | 928 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM1494630 COSM1494631 CA1981384 rs770181845 |
929 | K>R | kidney [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA1981383 rs762140419 |
930 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA349392569 rs1273323715 |
932 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA1981382 rs776930909 |
932 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs771787260 CA1981380 |
933 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
1 associated diseases with Q9HCR9
[MIM: 610475]: Primary pigmented nodular adrenocortical disease 2 (PPNAD2)
A rare bilateral adrenal defect causing ACTH-independent Cushing syndrome. Macroscopic appearance of the adrenals is characteristic with small pigmented micronodules observed in the cortex. Adrenal glands show overall normal size and weight, and multiple small yellow-to-dark brown nodules surrounded by a cortex with a uniform appearance. Microscopically, there are moderate diffuse cortical hyperplasia with mostly nonpigmented nodules, multiple capsular deficits and massive circumscribed and infiltrating extra-adrenal cortical excrescences with micronodules. Clinical manifestations of Cushing syndrome include facial and truncal obesity, abdominal striae, muscular weakness, osteoporosis, arterial hypertension, diabetes. . Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A rare bilateral adrenal defect causing ACTH-independent Cushing syndrome. Macroscopic appearance of the adrenals is characteristic with small pigmented micronodules observed in the cortex. Adrenal glands show overall normal size and weight, and multiple small yellow-to-dark brown nodules surrounded by a cortex with a uniform appearance. Microscopically, there are moderate diffuse cortical hyperplasia with mostly nonpigmented nodules, multiple capsular deficits and massive circumscribed and infiltrating extra-adrenal cortical excrescences with micronodules. Clinical manifestations of Cushing syndrome include facial and truncal obesity, abdominal striae, muscular weakness, osteoporosis, arterial hypertension, diabetes. . Note=The disease is caused by variants affecting the gene represented in this entry.
5 regional properties for Q9HCR9
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | 3'5'-cyclic nucleotide phosphodiesterase, catalytic domain | 588 - 912 | IPR002073 |
| domain | GAF domain | 217 - 380 | IPR003018-1 |
| domain | GAF domain | 402 - 568 | IPR003018-2 |
| domain | HD/PDEase domain | 661 - 839 | IPR003607 |
| conserved_site | 3'5'-cyclic nucleotide phosphodiesterase, conserved site | 704 - 715 | IPR023174 |
Functions
| Description | ||
|---|---|---|
| EC Number | 3.1.4.35 | Phosphoric diester hydrolases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
1 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
7 GO annotations of molecular function
| Name | Definition |
|---|---|
| 3',5'-cyclic-AMP phosphodiesterase activity | Catalysis of the reaction |
| 3',5'-cyclic-GMP phosphodiesterase activity | Catalysis of the reaction |
| 3',5'-cyclic-nucleotide phosphodiesterase activity | Catalysis of the reaction |
| cGMP binding | Binding to cGMP, the nucleotide cyclic GMP (guanosine 3',5'-cyclophosphate). |
| cGMP-stimulated cyclic-nucleotide phosphodiesterase activity | Catalysis of the reaction |
| cyclic-nucleotide phosphodiesterase activity | Catalysis of the reaction |
| metal ion binding | Binding to a metal ion. |
5 GO annotations of biological process
| Name | Definition |
|---|---|
| cAMP-mediated signaling | Any intracellular signal transduction in which the signal is passed on within the cell via cyclic AMP (cAMP). Includes production of cAMP, and downstream effectors that further transmit the signal within the cell. |
| metabolic process | The chemical reactions and pathways, including anabolism and catabolism, by which living organisms transform chemical substances. Metabolic processes typically transform small molecules, but also include macromolecular processes such as DNA repair and replication, and protein synthesis and degradation. |
| negative regulation of cAMP-mediated signaling | Any process which stops, prevents, or reduces the frequency, rate or extent of cAMP-mediated signaling. |
| negative regulation of cGMP-mediated signaling | Any process that decreases the rate, frequency or extent of cGMP-mediated signaling. |
| signal transduction | The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell. |
34 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q28156 | PDE5A | cGMP-specific 3',5'-cyclic phosphodiesterase | Bos taurus (Bovine) | SS |
| P23439 | PDE6B | Rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit beta | Bos taurus (Bovine) | PR |
| P52731 | PDE6C | Cone cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha' | Gallus gallus (Chicken) | PR |
| H2QL32 | PDE9A | High affinity cGMP-specific 3',5'-cyclic phosphodiesterase 9A | Pan troglodytes (Chimpanzee) | PR |
| Q9W4T4 | dnc | 3',5'-cyclic-AMP phosphodiesterase, isoform I | Drosophila melanogaster (Fruit fly) | SS |
| Q9VJ79 | Pde11 | Dual 3',5'-cyclic-AMP and -GMP phosphodiesterase 11 | Drosophila melanogaster (Fruit fly) | SS |
| O60658 | PDE8A | High affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8A | Homo sapiens (Human) | PR |
| P27815 | PDE4A | cAMP-specific 3',5'-cyclic phosphodiesterase 4A | Homo sapiens (Human) | EV SS |
| Q07343 | PDE4B | cAMP-specific 3',5'-cyclic phosphodiesterase 4B | Homo sapiens (Human) | EV SS |
| Q08493 | PDE4C | cAMP-specific 3',5'-cyclic phosphodiesterase 4C | Homo sapiens (Human) | EV SS |
| Q08499 | PDE4D | cAMP-specific 3',5'-cyclic phosphodiesterase 4D | Homo sapiens (Human) | EV |
| O76083 | PDE9A | High affinity cGMP-specific 3',5'-cyclic phosphodiesterase 9A | Homo sapiens (Human) | PR |
| P54750 | PDE1A | Dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1A | Homo sapiens (Human) | PR |
| Q9Y233 | PDE10A | cAMP and cAMP-inhibited cGMP 3',5'-cyclic phosphodiesterase 10A | Homo sapiens (Human) | PR |
| P35913 | PDE6B | Rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit beta | Homo sapiens (Human) | PR |
| P51160 | PDE6C | Cone cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha' | Homo sapiens (Human) | PR |
| O76074 | PDE5A | cGMP-specific 3',5'-cyclic phosphodiesterase | Homo sapiens (Human) | EV |
| P23440 | Pde6b | Rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit beta | Mus musculus (Mouse) | PR |
| O89084 | Pde4a | 3',5'-cyclic-AMP phosphodiesterase 4A | Mus musculus (Mouse) | SS |
| O70628 | Pde9a | High affinity cGMP-specific 3',5'-cyclic phosphodiesterase 9A | Mus musculus (Mouse) | PR |
| Q8CG03 | Pde5a | cGMP-specific 3',5'-cyclic phosphodiesterase | Mus musculus (Mouse) | SS |
| Q8CA95 | Pde10a | cAMP and cAMP-inhibited cGMP 3',5'-cyclic phosphodiesterase 10A | Mus musculus (Mouse) | PR |
| Q3UEI1 | Pde4c | cAMP-specific 3',5'-cyclic phosphodiesterase 4C | Mus musculus (Mouse) | PR |
| Q01063 | Pde4d | 3',5'-cyclic-AMP phosphodiesterase 4D | Mus musculus (Mouse) | SS |
| P0C1Q2 | Pde11a | Dual 3',5'-cyclic-AMP and -GMP phosphodiesterase 11A | Mus musculus (Mouse) | SS |
| Q8QZV1 | Pde9a | High affinity cGMP-specific 3',5'-cyclic phosphodiesterase 9A | Rattus norvegicus (Rat) | PR |
| P14646 | Pde4b | cAMP-specific 3',5'-cyclic phosphodiesterase 4B | Rattus norvegicus (Rat) | SS |
| O54735 | Pde5a | cGMP-specific 3',5'-cyclic phosphodiesterase | Rattus norvegicus (Rat) | SS |
| P14644 | Pde4c | cAMP-specific 3',5'-cyclic phosphodiesterase 4C | Rattus norvegicus (Rat) | PR |
| P54748 | Pde4a | 3',5'-cyclic-AMP phosphodiesterase 4A | Rattus norvegicus (Rat) | SS |
| Q9QYJ6 | Pde10a | cAMP and cAMP-inhibited cGMP 3',5'-cyclic phosphodiesterase 10A | Rattus norvegicus (Rat) | PR |
| P14270 | Pde4d | cAMP-specific 3',5'-cyclic phosphodiesterase 4D | Rattus norvegicus (Rat) | PR |
| Q8VID6 | Pde11a | Dual 3',5'-cyclic-AMP and -GMP phosphodiesterase 11A | Rattus norvegicus (Rat) | SS |
| Q22000 | pde-4 | Probable 3',5'-cyclic phosphodiesterase pde-4 | Caenorhabditis elegans | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAASRLDFGE | VETFLDRHPE | LFEDYLMRKG | KQEMVEKWLQ | RHSQGQGALG | PRPSLAGTSS |
| 70 | 80 | 90 | 100 | 110 | 120 |
| LAHSTCRGGS | SVGGGTGPNG | SAHSQPLPGG | GDCGGVPLSP | SWAGGSRGDG | NLQRRASQKE |
| 130 | 140 | 150 | 160 | 170 | 180 |
| LRKSFARSKA | IHVNRTYDEQ | VTSRAQEPLS | SVRRRALLRK | ASSLPPTTAH | ILSALLESRV |
| 190 | 200 | 210 | 220 | 230 | 240 |
| NLPRYPPTAI | DYKCHLKKHN | ERQFFLELVK | DISNDLDLTS | LSYKILIFVC | LMVDADRCSL |
| 250 | 260 | 270 | 280 | 290 | 300 |
| FLVEGAAAGK | KTLVSKFFDV | HAGTPLLPCS | STENSNEVQV | PWGKGIIGYV | GEHGETVNIP |
| 310 | 320 | 330 | 340 | 350 | 360 |
| DAYQDRRFND | EIDKLTGYKT | KSLLCMPIRS | SDGEIIGVAQ | AINKIPEGAP | FTEDDEKVMQ |
| 370 | 380 | 390 | 400 | 410 | 420 |
| MYLPFCGIAI | SNAQLFAASR | KEYERSRALL | EVVNDLFEEQ | TDLEKIVKKI | MHRAQTLLKC |
| 430 | 440 | 450 | 460 | 470 | 480 |
| ERCSVLLLED | IESPVVKFTK | SFELMSPKCS | ADAENSFKES | MEKSSYSDWL | INNSIAELVA |
| 490 | 500 | 510 | 520 | 530 | 540 |
| STGLPVNISD | AYQDPRFDAE | ADQISGFHIR | SVLCVPIWNS | NHQIIGVAQV | LNRLDGKPFD |
| 550 | 560 | 570 | 580 | 590 | 600 |
| DADQRLFEAF | VIFCGLGINN | TIMYDQVKKS | WAKQSVALDV | LSYHATCSKA | EVDKFKAANI |
| 610 | 620 | 630 | 640 | 650 | 660 |
| PLVSELAIDD | IHFDDFSLDV | DAMITAALRM | FMELGMVQKF | KIDYETLCRW | LLTVRKNYRM |
| 670 | 680 | 690 | 700 | 710 | 720 |
| VLYHNWRHAF | NVCQLMFAML | TTAGFQDILT | EVEILAVIVG | CLCHDLDHRG | TNNAFQAKSG |
| 730 | 740 | 750 | 760 | 770 | 780 |
| SALAQLYGTS | ATLEHHHFNH | AVMILQSEGH | NIFANLSSKE | YSDLMQLLKQ | SILATDLTLY |
| 790 | 800 | 810 | 820 | 830 | 840 |
| FERRTEFFEL | VSKGEYDWNI | KNHRDIFRSM | LMTACDLGAV | TKPWEISRQV | AELVTSEFFE |
| 850 | 860 | 870 | 880 | 890 | 900 |
| QGDRERLELK | LTPSAIFDRN | RKDELPRLQL | EWIDSICMPL | YQALVKVNVK | LKPMLDSVAT |
| 910 | 920 | 930 | |||
| NRSKWEELHQ | KRLLASTASS | SPASVMVAKE | DRN |