Q9Y216
PR
Gene name |
MTMR7 |
Protein name |
Myotubularin-related protein 7 |
Names |
Inositol 1,3-bisphosphate phosphatase, Phosphatidylinositol-3-phosphate phosphatase |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:9108 |
EC number |
3.1.3.64: Phosphoric monoester hydrolases |
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 Q9Y216
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9Y216-F1 | Predicted | AlphaFoldDB |
746 variants for Q9Y216
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA370406408 rs1485919344 |
3 | H>N | No |
ClinGen TOPMed gnomAD |
|
|
rs932798271 CA172968664 |
3 | H>P | No |
ClinGen gnomAD |
|
|
CA370406402 rs932798271 |
3 | H>R | No |
ClinGen gnomAD |
|
|
rs1485919344 CA370406406 |
3 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA370406387 rs1211129512 |
4 | I>V | No |
ClinGen gnomAD |
|
|
rs1327446069 CA370406369 |
5 | R>C | No |
ClinGen gnomAD |
|
|
CA370406366 rs754175709 |
5 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4644464 rs754175709 |
5 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1327446069 CA370406373 |
5 | R>S | No |
ClinGen gnomAD |
|
|
CA4644462 rs760803217 |
6 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1385773407 CA370406342 |
7 | P>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1385773407 CA370406340 |
7 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs201355231 CA172968644 |
7 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201355231 CA4644461 |
7 | P>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs771985266 CA4644460 |
8 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs771985266 CA370406337 |
8 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA370406326 rs759552588 |
8 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA4644459 rs759552588 |
8 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA4644417 rs528863006 |
10 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs867635486 CA172986228 |
11 | N>I | No |
ClinGen TOPMed gnomAD |
|
|
rs867635486 CA370410589 |
11 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs867635486 CA172986238 |
11 | N>T | No |
ClinGen TOPMed gnomAD |
|
|
rs566370528 CA370410581 |
12 | V>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs566370528 CA4644416 |
12 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs150456638 CA4644415 |
13 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1258043 CA4644413 rs140695671 |
13 | R>H | oesophagus [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs140695671 CA4644414 |
13 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA172986184 rs866985878 |
15 | V>I | No |
ClinGen Ensembl |
|
|
CA370410541 rs1325003432 |
16 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA4644411 rs778095003 COSM1097482 |
17 | R>* | Variant assessed as Somatic; 0.0 impact. skin endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs748552340 CA4644409 |
17 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA4644407 rs781690021 |
18 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs748502084 CA4644408 |
18 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370410506 rs1206833284 |
19 | S>C | No |
ClinGen TOPMed |
|
|
rs755312736 CA4644406 |
22 | K>T | No |
ClinGen ExAC gnomAD |
|
| rs1247333588 | 23 | A>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA370410453 rs1223930952 |
24 | A>T | No |
ClinGen gnomAD |
|
|
rs1283461472 CA370410446 |
24 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs766574049 CA172986084 |
25 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs766574049 CA4644404 |
25 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA4644405 rs373067230 |
25 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA370410429 rs1483677783 |
26 | G>A | No |
ClinGen TOPMed |
|
|
rs1330936039 CA370410423 |
27 | T>S | No |
ClinGen gnomAD |
|
|
rs758357915 CA4644403 |
27 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753634396 CA4644399 |
28 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4644400 rs761801071 |
28 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs1585101413 CA370410397 |
29 | Y>S | No |
ClinGen Ensembl |
|
| TCGA novel | 30 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 30 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs752623518 CA4644398 |
31 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs374948754 CA4644397 |
31 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs771594384 CA4644395 |
32 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs1391282101 CA370410358 |
33 | T>I | No |
ClinGen gnomAD |
|
|
CA4644393 rs773881490 |
36 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1389011078 CA370410315 |
37 | F>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1477049651 CA370410324 |
37 | F>L | No |
ClinGen gnomAD |
|
|
CA370410303 rs908128088 |
38 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA172985945 rs908128088 |
38 | V>E | No |
ClinGen TOPMed gnomAD |
|
|
CA4644391 rs748679120 |
38 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs779144225 CA4644390 |
39 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1312584124 CA370410277 |
40 | N>S | No |
ClinGen gnomAD |
|
|
COSM1699763 rs1554516083 CA370410262 |
41 | S>L | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs1217126609 CA370410256 |
42 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA4644385 rs7388581 VAR_059779 |
44 | P>A | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs779033734 CA4644384 |
44 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs7388581 CA4644386 |
44 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4644387 rs7388581 |
44 | P>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs753708538 CA4644383 |
46 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753708538 CA4644382 |
46 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370410173 rs1188077357 |
49 | W>L | No |
ClinGen TOPMed gnomAD |
|
|
rs763905684 CA4644381 |
49 | W>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4644356 rs762506961 |
50 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4644355 rs377623377 |
51 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs965963399 CA172983540 |
52 | H>Y | No |
ClinGen Ensembl |
|
|
CA4644354 rs375566255 CA4644353 |
54 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA172983538 rs924013813 |
54 | Q>K | No |
ClinGen Ensembl |
|
|
CA172983532 rs1057339138 |
55 | I>V | No |
ClinGen TOPMed |
|
|
rs140825852 CA4644352 |
56 | S>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA370409875 rs1365296771 |
57 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA4644351 rs746107183 |
58 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4644349 rs774582388 |
58 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs746107183 CA4644350 |
58 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1433876719 CA370409857 |
59 | E>K | No |
ClinGen gnomAD |
|
|
CA370409829 rs1585099591 |
60 | K>N | No |
ClinGen Ensembl |
|
|
rs771034803 CA4644348 |
63 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA4644346 rs371304992 |
65 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371304992 CA4644345 |
65 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4644344 rs748023548 |
66 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs376505669 CA4644343 |
66 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1267688718 COSM3698993 CA370409766 |
67 | G>R | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA370409736 rs560344824 |
69 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs560344824 CA4644341 |
69 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753551062 CA4644339 |
72 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4644338 rs750007122 COSM1455830 |
73 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
COSM1215715 CA370409699 rs1348915066 |
73 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs1387384693 CA370409658 |
76 | N>S | No |
ClinGen gnomAD |
|
|
rs761268283 CA4644336 |
78 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4644335 rs767792558 |
78 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs759992171 CA4644333 |
79 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs1161166034 CA370409615 |
79 | I>M | No |
ClinGen gnomAD |
|
|
CA370409617 rs1409970682 |
79 | I>R | No |
ClinGen TOPMed |
|
|
rs1455467131 CA370409607 |
80 | I>T | No |
ClinGen gnomAD |
|
|
CA370409587 rs1362823329 |
82 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA370409583 rs1362823329 |
82 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs774550130 CA4644332 |
83 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs373368777 CA4644330 |
84 | I>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs769801809 CA4644328 |
84 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4644329 rs773294784 |
84 | I>T | No |
ClinGen ExAC |
|
|
rs373368777 CA4644331 |
84 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1189974969 CA370409555 |
85 | P>T | No |
ClinGen gnomAD |
|
| TCGA novel | 86 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1370244917 CA370409530 |
86 | Q>H | No |
ClinGen TOPMed |
|
|
CA370409520 rs1434198090 |
87 | E>G | No |
ClinGen TOPMed |
|
| TCGA novel | 88 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs148455057 CA172983436 |
88 | R>T | No |
ClinGen ESP TOPMed |
|
|
rs1214022445 CA370409494 |
89 | D>G | No |
ClinGen TOPMed |
|
|
CA370409501 rs1269136951 |
89 | D>N | No |
ClinGen gnomAD |
|
|
rs1214022445 CA370409493 |
89 | D>V | No |
ClinGen TOPMed |
|
|
rs368887856 COSM378820 CA172983429 |
90 | C>* | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP NCI-TCGA TOPMed |
|
rs1222117782 CA370409485 |
90 | C>R | No |
ClinGen gnomAD |
|
|
rs527918462 CA4644324 COSM134244 |
92 | D>N | Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs527918462 CA4644325 |
92 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4644322 rs750025567 |
93 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4644321 rs750025567 |
93 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370409425 rs1299336387 |
95 | I>L | No |
ClinGen gnomAD |
|
|
CA4644320 rs151245844 |
95 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4644318 rs753264014 |
97 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA4644317 rs768108975 |
99 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs768108975 CA370409394 |
99 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4644316 rs55985080 |
99 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA172983380 rs918988906 |
100 | L>R | No |
ClinGen Ensembl |
|
|
CA4644315 rs752021738 |
100 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA370409374 rs1563363665 |
101 | A>G | No |
ClinGen Ensembl |
|
|
rs774746808 CA172983372 |
101 | A>P | No |
ClinGen TOPMed |
|
|
rs774746808 CA370409378 |
101 | A>S | No |
ClinGen TOPMed |
|
|
CA370409370 rs1375401228 |
102 | R>G | No |
ClinGen gnomAD |
|
|
CA4644314 rs145542104 |
102 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1449570578 CA370409353 |
103 | P>R | No |
ClinGen gnomAD |
|
| TCGA novel | 107 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761924224 CA4644293 |
108 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA4644291 rs768549207 |
110 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776781037 CA4644292 |
110 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA172973515 rs200866221 |
111 | C>S | No |
ClinGen Ensembl |
|
|
CA172973511 rs868131493 |
113 | S>L | No |
ClinGen Ensembl |
|
|
rs368481299 CA172973498 |
116 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368481299 CA4644288 |
116 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA370408790 rs1214888401 |
116 | P>S | No |
ClinGen TOPMed |
|
|
rs745697279 CA4644287 |
117 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs998927344 CA172973493 |
117 | M>T | No |
ClinGen gnomAD |
|
|
rs1396354135 CA370408771 |
118 | L>V | No |
ClinGen gnomAD |
|
|
rs778846205 CA4644286 |
119 | D>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 119 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1190981622 CA370408747 |
120 | K>T | No |
ClinGen TOPMed |
|
|
CA370408729 rs981342252 |
122 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs981342252 CA172973488 |
122 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1563357714 CA370408692 |
125 | Q>K | No |
ClinGen Ensembl |
|
|
CA4644285 rs770675454 |
126 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770675454 CA370408673 |
126 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748835075 CA4644284 |
127 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA370408653 rs1254045964 |
128 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1179694793 CA370408645 |
129 | L>V | No |
ClinGen gnomAD |
|
|
rs376356361 CA4644282 |
130 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs568575574 CA4644279 |
131 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs780591469 CA4644280 |
131 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs370669270 CA4644281 COSM1097479 |
131 | D>N | Variant assessed as Somatic; 0.0 impact. NS endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA4644278 rs750841490 |
133 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370408593 rs1327224391 |
133 | S>R | No |
ClinGen TOPMed |
|
|
CA370408550 rs1351897680 |
137 | T>A | No |
ClinGen gnomAD |
|
|
rs374185031 CA370408542 |
137 | T>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374185031 CA4644277 |
137 | T>M | Variant assessed as Somatic; 4.621e-05 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA370408547 rs374185031 |
137 | T>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 138 | R>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs566352492 CA4644274 |
138 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM357908 rs528716283 CA4644275 |
138 | R>W | lung Variant assessed as Somatic; 0.0 impact. endometrium [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA4644273 rs760715595 CA172973446 |
139 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370408525 rs1407636204 |
139 | M>T | No |
ClinGen gnomAD |
|
|
rs1056002783 CA172973442 |
140 | G>S | No |
ClinGen Ensembl |
|
|
CA4644272 rs147224680 COSM232826 |
141 | L>F | skin [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs1458118986 CA370408505 |
141 | L>R | No |
ClinGen gnomAD |
|
|
rs1285446409 CA370408494 |
142 | P>L | No |
ClinGen TOPMed |
|
|
rs767628064 CA4644271 |
143 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs142976666 CA4644270 |
144 | H>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs201283564 CA4644269 |
145 | Y>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA4644268 rs770566799 |
147 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs770566799 CA370408442 |
147 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs749002098 CA4644267 |
149 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs769468346 CA4644266 CA172973416 |
149 | S>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 150 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1003928353 CA172973394 |
153 | R>T | No |
ClinGen TOPMed gnomAD |
|
|
COSM1097478 rs1029814845 CA172973382 |
155 | Y>C | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA4644262 rs758916180 |
155 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
rs779278498 CA370408353 |
156 | R>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779278498 CA4644260 |
156 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1479430586 CA370407502 |
160 | S>P | No |
ClinGen TOPMed |
|
|
rs1451294186 CA370407498 |
160 | S>Y | No |
ClinGen gnomAD |
|
|
rs762947673 CA370407473 |
162 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA4644233 rs762947673 |
162 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA4644232 rs750247144 |
163 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763616539 CA4644231 |
163 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4644230 rs761481324 |
164 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370407452 rs1208301445 |
164 | E>Q | No |
ClinGen gnomAD |
|
|
CA370407445 rs761481324 |
164 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370407430 rs1206457117 |
165 | L>Q | No |
ClinGen gnomAD |
|
|
rs760216505 CA4644227 |
166 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
CA4644226 rs373920476 |
167 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs373920476 CA370407390 |
167 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4644225 rs771398716 |
168 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA370407377 rs1352570551 |
168 | P>S | No |
ClinGen TOPMed |
|
|
CA370407359 rs1563351186 |
169 | K>R | No |
ClinGen Ensembl |
|
|
CA4644223 rs200093307 |
170 | S>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4644222 rs770244541 |
172 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781615915 CA4644220 |
174 | H>Y | No |
ClinGen ExAC |
|
|
CA370407224 rs1293818007 |
175 | I>M | No |
ClinGen TOPMed |
|
|
rs139941871 CA4644217 |
175 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs751661074 CA4644218 |
175 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA4644216 rs141867103 |
176 | I>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA4644215 rs750330517 |
177 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs764961795 CA4644214 |
178 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA370407153 rs1183662985 |
179 | S>G | No |
ClinGen gnomAD |
|
|
CA370407143 rs1479374584 |
179 | S>I | No |
ClinGen gnomAD |
|
|
CA172966430 rs1023983030 |
179 | S>R | No |
ClinGen TOPMed |
|
|
CA370407113 rs1273412569 |
181 | K>R | No |
ClinGen TOPMed |
|
|
rs753597385 CA4644212 |
182 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA370407081 rs1322689442 |
182 | F>L | No |
ClinGen gnomAD |
|
|
CA370407091 rs1204506407 |
182 | F>Y | No |
ClinGen gnomAD |
|
|
CA4644210 rs760306434 |
183 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA4644211 rs763801295 |
183 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4644209 rs774875354 |
185 | R>T | No |
ClinGen ExAC gnomAD |
|
|
rs369466778 CA4644208 |
186 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs376531462 CA4644207 |
187 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1005460703 COSM1097476 CA172966404 |
187 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs372780967 CA4644206 |
189 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 190 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4644204 rs748566130 |
190 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769062524 CA4644202 |
191 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370406868 CA4644200 rs758452565 |
193 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4644201 rs747199708 |
193 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs897926748 CA172966380 |
193 | Y>H | No |
ClinGen Ensembl |
|
|
CA4644197 rs778859183 |
194 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778859183 CA4644198 |
194 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757179637 CA4644196 |
195 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
rs1489119272 CA370406821 |
196 | K>N | No |
ClinGen gnomAD |
|
| TCGA novel | 197 | D>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1430160932 CA370406797 |
198 | N>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA4644193 rs755725314 |
198 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370406744 rs143745263 |
199 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4644192 rs148115774 |
199 | H>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs777737920 CA4644158 |
200 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370405846 rs780837927 |
201 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1378715668 CA370405843 |
201 | S>C | No |
ClinGen TOPMed |
|
|
CA4644155 rs780837927 |
201 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370405840 rs1195720850 |
202 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA4644153 rs751193282 |
204 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA4644154 rs754676363 |
204 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs538820089 CA172962199 |
206 | S>C | No |
ClinGen TOPMed |
|
|
rs758028025 CA4644151 |
206 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA370405812 rs1201301133 |
206 | S>T | No |
ClinGen gnomAD |
|
|
rs749919032 CA4644150 |
207 | Q>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 209 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA370405785 rs1256316893 |
211 | G>S | No |
ClinGen TOPMed |
|
|
CA370405769 rs1240240540 |
213 | S>C | No |
ClinGen TOPMed |
|
|
CA370405756 rs1325657111 |
215 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA4644146 rs767706586 |
215 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4644144 rs774508309 |
217 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1350458857 CA370405738 |
218 | E>G | No |
ClinGen gnomAD |
|
|
CA4644142 rs763061650 |
218 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
CA4644140 rs747980909 |
219 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4644137 rs139002520 |
220 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1397789228 CA370405727 |
220 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA370405714 COSM1313887 rs1460774512 |
221 | Q>H | urinary_tract [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs1402016059 CA370405720 |
221 | Q>K | No |
ClinGen TOPMed |
|
|
rs1372932342 CA370405701 |
223 | L>F | No |
ClinGen gnomAD |
|
| TCGA novel | 223 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA370405697 rs1476337426 |
224 | Q>* | No |
ClinGen gnomAD |
|
|
CA370405695 rs1476337426 |
224 | Q>E | No |
ClinGen gnomAD |
|
|
rs779890075 CA4644135 |
225 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370405684 rs1274962014 |
226 | I>V | No |
ClinGen gnomAD |
|
|
rs1194067052 CA370405670 |
227 | R>S | No |
ClinGen gnomAD |
|
|
CA4644133 rs750009089 |
228 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs778226202 CA370405662 |
229 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs778226202 CA4644132 |
229 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs754326042 CA172962137 |
230 | N>H | No |
ClinGen Ensembl |
|
|
rs140788515 CA4644131 |
230 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4644130 rs753104590 |
231 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs767947470 CA4644129 |
233 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1265697953 CA370405629 |
234 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA4644127 rs751891186 |
235 | F>I | No |
ClinGen ExAC gnomAD |
|
|
CA370405619 rs199819762 |
235 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4644125 rs200168815 |
236 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA172962111 rs985601560 |
237 | Y>C | No |
ClinGen TOPMed |
|
|
CA4644124 rs773358124 |
237 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM3728170 rs761845743 CA4644122 |
239 | V>I | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA370405585 rs1415864821 |
241 | T>N | No |
ClinGen gnomAD |
|
|
CA172962100 rs968622478 |
242 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA370405573 rs1586220419 |
243 | P>L | No |
ClinGen Ensembl |
|
|
rs1424799376 CA370405572 |
244 | K>Q | No |
ClinGen TOPMed |
|
|
rs199554013 CA173008090 |
247 | A>S | No |
ClinGen gnomAD |
|
|
CA370412788 rs1369199996 |
248 | M>T | No |
ClinGen gnomAD |
|
|
rs765385954 CA4644106 |
248 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761852406 CA4644105 |
249 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370412778 rs1431964369 |
250 | N>D | No |
ClinGen gnomAD |
|
|
CA173008062 rs866932036 |
251 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA4644104 rs376725869 |
251 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA173008048 rs376725869 |
251 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1400132932 CA370412767 |
252 | A>S | No |
ClinGen gnomAD |
|
| TCGA novel | 253 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA173008022 rs753738180 |
255 | K>N | No |
ClinGen TOPMed |
|
|
CA4644102 rs760625970 |
255 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs775440579 CA4644101 |
256 | G>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 258 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs771945326 CA4644100 |
262 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4644098 rs773915687 |
263 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770595560 CA4644097 |
265 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1304012234 CA370412668 |
266 | I>S | No |
ClinGen TOPMed |
|
|
rs748806576 CA4644096 |
267 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA4644095 rs373822353 |
268 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 270 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA370412632 rs1281895819 |
271 | I>F | No |
ClinGen gnomAD |
|
|
CA173007963 rs866092642 |
272 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA4644093 rs747455390 |
272 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs368716256 CA4644089 |
276 | I>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1399670369 CA370412589 |
277 | H>R | No |
ClinGen gnomAD |
|
| TCGA novel | 278 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA370412584 rs1356144241 |
278 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
CA370412586 rs1356144241 |
278 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs953439770 CA173007937 |
280 | R>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1314773087 CA370412571 |
280 | R>W | No |
ClinGen gnomAD |
|
|
CA370412553 rs1586203367 |
282 | S>T | No |
ClinGen Ensembl |
|
| TCGA novel | 283 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA370412541 rs1171072040 |
284 | Q>R | No |
ClinGen gnomAD |
|
|
rs1417207698 CA370412508 |
286 | M>I | No |
ClinGen gnomAD |
|
|
rs1475361108 CA370412492 |
288 | E>G | No |
ClinGen gnomAD |
|
|
rs1259213248 CA370412485 |
289 | V>L | No |
ClinGen gnomAD |
|
|
rs376637112 CA370410657 |
291 | E>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4644065 rs376637112 |
291 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs759512170 CA4644064 |
291 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4644063 rs751315135 |
293 | K>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370410644 rs1197690481 |
293 | K>Q | No |
ClinGen gnomAD |
|
|
rs751315135 CA370410642 |
293 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1334495491 CA370410637 |
294 | S>A | No |
ClinGen TOPMed |
|
|
CA172986613 rs150298599 |
294 | S>Y | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA4644061 rs369672252 |
295 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA370410632 rs369672252 |
295 | P>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA172986599 rs772809203 |
297 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772809203 CA4644060 |
297 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs915889741 CA172986573 |
298 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1160602823 CA370410554 |
300 | F>L | No |
ClinGen gnomAD |
|
|
rs1261741096 CA370410526 |
302 | W>C | No |
ClinGen TOPMed |
|
|
rs1406350277 CA370410538 |
302 | W>G | No |
ClinGen gnomAD |
|
|
CA370410533 rs1178624150 |
302 | W>S | No |
ClinGen gnomAD |
|
|
CA4644058 rs761358625 |
303 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA4644059 rs140156357 |
303 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4644057 rs559283754 |
308 | G>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA370410449 rs559283754 |
308 | G>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA370410432 rs1217962385 |
309 | W>C | No |
ClinGen gnomAD |
|
|
CA370410412 rs1315212854 |
311 | R>K | No |
ClinGen gnomAD |
|
|
CA370410380 rs772465098 |
312 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1407912918 CA370410362 |
313 | I>M | No |
ClinGen gnomAD |
|
|
rs974232679 CA172986551 |
314 | K>E | No |
ClinGen Ensembl |
|
|
rs578072095 CA172986539 |
314 | K>R | No |
ClinGen Ensembl |
|
|
rs746330442 CA4644055 |
315 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA370410317 rs941415693 |
316 | I>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA4644054 rs779168989 |
317 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370410296 rs1385143617 |
318 | D>N | No |
ClinGen gnomAD |
|
|
rs1563323739 CA370410285 |
319 | A>T | No |
ClinGen Ensembl |
|
|
rs961509049 CA172986530 |
323 | I>N | No |
ClinGen Ensembl |
|
|
rs1450974788 CA370410203 |
324 | A>E | No |
ClinGen gnomAD |
|
|
rs1158537455 CA370410195 |
325 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1455121123 CA370410190 |
325 | K>R | No |
ClinGen gnomAD |
|
|
CA370409885 rs1353086612 CA370409883 |
327 | V>L | No |
ClinGen gnomAD |
|
|
rs1468399178 CA370409874 |
328 | S>T | No |
ClinGen TOPMed |
|
|
rs151174249 CA4644031 |
329 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200563522 CA172984410 |
331 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs200563522 CA4644030 |
331 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs1440736219 CA370409813 |
332 | A>T | No |
ClinGen gnomAD |
|
|
rs1169960820 CA370409792 |
333 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs755043450 CA4644028 |
334 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1255590138 CA370409768 |
335 | L>P | No |
ClinGen gnomAD |
|
|
CA370409760 rs1165993688 |
336 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA370409763 rs1165993688 |
336 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs979519871 CA172984372 |
337 | H>R | No |
ClinGen TOPMed |
|
|
rs1586157259 CA370409666 |
342 | W>* | No |
ClinGen Ensembl |
|
|
rs140535945 CA370409602 |
346 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs140535945 CA4644023 |
346 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 347 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1586157209 CA370409568 |
348 | V>G | No |
ClinGen Ensembl |
|
|
CA370409563 rs1273412202 |
349 | C>R | No |
ClinGen gnomAD |
|
|
rs753449850 CA4644021 |
350 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs753449850 CA370409541 |
350 | S>W | No |
ClinGen ExAC gnomAD |
|
|
rs1239168899 CA370409528 |
352 | A>T | No |
ClinGen gnomAD |
|
|
rs1336799497 CA370409510 |
353 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1203194332 CA370409502 |
353 | S>R | No |
ClinGen TOPMed |
|
|
CA370409446 rs1210248139 |
357 | D>E | No |
ClinGen TOPMed |
|
|
rs766976266 CA370409434 |
358 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766976266 CA4644017 |
358 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370409439 rs1400105519 |
358 | P>S | No |
ClinGen gnomAD |
|
|
rs1463256776 CA370409421 |
359 | H>Q | No |
ClinGen gnomAD |
|
|
CA370409406 rs1328226065 |
360 | Y>C | No |
ClinGen gnomAD |
|
|
CA4644015 rs539910593 |
360 | Y>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs539910593 CA4644016 |
360 | Y>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA370409404 rs1328226065 |
360 | Y>S | No |
ClinGen gnomAD |
|
|
rs147637471 CA4644013 |
361 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs770232456 CA4644014 |
361 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA370409373 rs1586157023 |
363 | L>V | No |
ClinGen Ensembl |
|
|
CA4644011 rs145319167 |
364 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA370409348 rs1438846383 |
365 | G>S | No |
ClinGen gnomAD |
|
|
CA172984245 rs933204247 |
366 | F>Y | No |
ClinGen Ensembl |
|
|
CA172984233 rs148482221 |
367 | M>T | No |
ClinGen ESP gnomAD |
|
|
CA4643988 rs778873303 |
368 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370409299 rs1328256838 |
369 | L>S | No |
ClinGen gnomAD |
|
|
CA370409291 rs1296369762 |
370 | I>T | No |
ClinGen gnomAD |
|
|
CA4643986 rs749174292 |
371 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs777364738 CA4643985 CA172981291 |
372 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370409268 rs1412538906 |
373 | D>E | No |
ClinGen gnomAD |
|
|
rs755804314 CA4643984 |
373 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs1168110209 CA370409259 |
374 | W>C | No |
ClinGen gnomAD |
|
|
rs752240296 CA4643983 |
374 | W>G | No |
ClinGen ExAC gnomAD |
|
|
CA370409258 rs780879877 |
375 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780879877 CA4643982 |
375 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754571973 CA4643981 |
376 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs1192216703 CA370409234 |
378 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA370409238 rs1586151960 |
378 | G>R | No |
ClinGen Ensembl |
|
|
rs1205343678 CA370409228 |
379 | H>L | No |
ClinGen TOPMed |
|
| TCGA novel | 380 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA370409216 rs1258813586 |
381 | F>L | No |
ClinGen gnomAD |
|
|
rs765898742 CA4643979 CA370409195 |
383 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4643978 rs754247603 |
384 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4643977 rs754247603 |
384 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4643976 rs371875661 |
384 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA370409174 rs1218013701 |
385 | Y>C | No |
ClinGen TOPMed |
|
|
CA4643952 rs144206696 |
385 | Y>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4643950 rs759688916 |
387 | N>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 388 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 388 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs774427127 CA4643949 |
391 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374529350 CA172977337 |
392 | P>R | No |
ClinGen ESP TOPMed |
|
|
rs1225362237 CA370409129 |
392 | P>T | No |
ClinGen gnomAD |
|
| TCGA novel | 393 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 393 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM1097464 rs1238407176 CA370409118 |
394 | E>* | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs773062624 CA4643946 |
397 | P>A | No |
ClinGen ExAC |
|
|
rs988561243 CA172977318 |
399 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA370409072 rs1441410555 |
400 | D>E | No |
ClinGen gnomAD |
|
|
rs1354245602 CA370409075 |
400 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1369205171 CA370409069 COSM240739 |
401 | Q>* | prostate [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs747948343 CA4643944 |
403 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA4643942 rs768423596 |
404 | E>D | No |
ClinGen ExAC |
|
|
rs776558279 CA4643943 |
404 | E>K | No |
ClinGen ExAC |
|
|
CA370409035 rs1440960138 |
406 | V>I | No |
ClinGen TOPMed |
|
|
rs1283075608 CA370409026 |
407 | W>* | No |
ClinGen gnomAD |
|
|
rs1159182426 CA370409027 |
407 | W>G | No |
ClinGen TOPMed |
|
|
CA370409015 rs1159758373 |
408 | Q>L | No |
ClinGen gnomAD |
|
|
rs149566495 CA172977294 |
410 | M>V | No |
ClinGen ESP |
|
|
rs1422001737 CA370408996 |
411 | E>Q | No |
ClinGen gnomAD |
|
|
rs1379032106 CA370408989 |
412 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
CA4643941 rs139291603 |
413 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4643940 rs779745415 |
414 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1454992038 CA370408972 |
414 | P>S | No |
ClinGen gnomAD |
|
|
rs757889493 CA4643939 |
415 | C>W | No |
ClinGen ExAC gnomAD |
|
|
rs1336004279 CA370408959 |
416 | A>V | No |
ClinGen TOPMed |
|
| TCGA novel | 419 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4643937 rs201455556 |
420 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs201455556 CA4643936 |
420 | N>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1218918725 CA370408867 |
422 | R>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA370408864 rs1218918725 |
422 | R>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1285232350 CA370408804 |
426 | H>D | No |
ClinGen gnomAD |
|
|
CA172977245 rs370132911 |
427 | I>M | No |
ClinGen gnomAD |
|
|
rs1279021611 CA370408781 |
427 | I>T | No |
ClinGen TOPMed |
|
|
rs1240895655 CA370408787 |
427 | I>V | No |
ClinGen TOPMed |
|
|
CA370408765 rs1349244477 |
428 | Q>L | No |
ClinGen TOPMed |
|
|
CA4643932 rs751740020 |
429 | H>P | No |
ClinGen ExAC gnomAD |
|
|
rs749341642 CA172977236 |
429 | H>Y | No |
ClinGen Ensembl |
|
|
CA172977229 rs372362905 |
430 | H>Q | No |
ClinGen Ensembl |
|
|
rs370550779 CA370408712 |
431 | I>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370550779 CA4643931 |
431 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA370408718 rs1221406114 |
431 | I>V | No |
ClinGen TOPMed |
|
|
rs756189120 CA172977216 |
432 | Y>F | No |
ClinGen Ensembl |
|
|
CA4643929 rs773325444 |
435 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA172977201 rs773325444 |
435 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs1359122778 CA370408629 |
436 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
CA370408630 rs1359122778 |
436 | F>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1466869593 CA370408617 |
437 | G>E | No |
ClinGen gnomAD |
|
|
CA4643928 rs765152454 |
439 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA370408573 rs1432773403 |
440 | L>Q | No |
ClinGen gnomAD |
|
|
CA370408549 rs1487358595 |
441 | C>* | No |
ClinGen TOPMed gnomAD |
|
|
rs760519792 CA4643924 |
441 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370408541 rs1262376042 |
442 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA4643923 rs775057186 |
443 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA370408527 rs1484097457 |
443 | S>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA4643922 COSM1743820 rs771746332 |
444 | Q>R | biliary_tract [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA370408485 rs1307647631 |
445 | K>N | No |
ClinGen gnomAD |
|
|
CA4643921 rs745437356 |
446 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs770217035 CA4643920 |
447 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs371072993 CA172977116 |
448 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs781567821 CA4643917 |
448 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 449 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1211050615 CA370408335 |
452 | I>F | No |
ClinGen gnomAD |
|
|
CA370408333 rs1431095650 |
452 | I>N | No |
ClinGen TOPMed |
|
| TCGA novel | 453 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4643892 rs778974183 |
453 | Q>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 454 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1264201826 CA370408317 |
454 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs575439089 CA4643891 |
455 | R>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 455 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs760623991 CA4643888 |
455 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA4643889 rs764197148 |
455 | R>T | No |
ClinGen ExAC gnomAD |
|
|
rs1288973984 CA370408306 |
456 | T>K | No |
ClinGen gnomAD |
|
|
rs561994344 CA4643887 |
457 | Y>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs767295339 CA4643886 |
458 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs774090981 CA4643884 |
459 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA370408270 rs1420180486 |
462 | H>Y | No |
ClinGen gnomAD |
|
|
CA172967109 rs1016535927 |
463 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA370408255 rs1246916140 |
464 | W>* | No |
ClinGen gnomAD |
|
|
CA4643880 rs769151309 |
466 | N>H | No |
ClinGen ExAC gnomAD |
|
|
rs553369647 CA4643878 |
467 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs553369647 CA172967095 COSM1097463 |
467 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs758050973 CA4643879 |
467 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4643875 rs779340824 |
469 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA370408219 rs370848870 |
470 | Y>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4643874 rs370848870 |
470 | Y>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA370408210 rs749384587 |
471 | L>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4643873 rs749384587 |
471 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1353521898 CA370408199 |
473 | P>A | No |
ClinGen gnomAD |
|
|
rs777942055 CA4643872 |
473 | P>R | No |
ClinGen ExAC |
|
|
CA172967070 rs1010790434 |
475 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA370408188 rs1438937102 |
475 | F>V | No |
ClinGen gnomAD |
|
|
rs369293993 CA4643871 |
477 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1487331165 CA370408176 |
477 | A>T | No |
ClinGen TOPMed |
|
|
rs1554504516 CA370408166 |
478 | D>E | No |
ClinGen Ensembl |
|
|
rs752641394 CA4643870 |
478 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA370408142 rs1362320632 |
481 | Q>H | No |
ClinGen gnomAD |
|
|
CA4643869 rs375705557 |
482 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4643868 rs375705557 |
482 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1418865182 CA370408130 |
483 | Q>H | No |
ClinGen gnomAD |
|
|
rs184457832 CA4643866 |
487 | H>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs184457832 CA172967030 |
487 | H>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs184457832 CA370408108 |
487 | H>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4643867 rs143013897 |
487 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA370408103 rs1563314853 |
488 | L>F | No |
ClinGen Ensembl |
|
|
CA4643864 rs772719207 |
489 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs942544610 CA172967011 |
490 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs764676129 CA4643863 |
490 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA4643862 rs761114661 |
491 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA370408084 rs1279723170 |
492 | P>A | No |
ClinGen gnomAD |
|
|
CA370408080 rs1168113154 |
492 | P>L | No |
ClinGen gnomAD |
|
|
rs1279723170 CA370408083 |
492 | P>S | No |
ClinGen gnomAD |
|
|
CA4643861 rs377292749 |
493 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs373437625 CA172966983 |
496 | M>I | No |
ClinGen Ensembl |
|
|
rs746315870 CA172966986 |
496 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746315870 CA4643859 |
496 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs923660622 CA172966980 |
497 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs748327183 CA4643836 |
498 | K>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 498 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1226583826 CA370408010 |
500 | W>C | No |
ClinGen gnomAD |
|
| TCGA novel | 500 | W>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4643835 rs781066428 |
501 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA370408004 rs781066428 |
501 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1309661359 CA370407997 |
502 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1309661359 CA370407998 |
502 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA370407996 rs1309661359 |
502 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA4643833 rs746895229 |
503 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA172965588 rs988583883 |
503 | M>R | No |
ClinGen TOPMed gnomAD |
|
|
CA172965580 rs1044202078 |
504 | Y>H | No |
ClinGen Ensembl |
|
|
CA370407975 CA370407976 rs1351159101 |
505 | N>K | No |
ClinGen gnomAD |
|
|
rs563338321 CA4643832 |
505 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200135634 CA4643831 |
506 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM181957 rs750208861 CA4643830 |
506 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 508 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs778696608 CA370407962 |
508 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA4643829 rs778696608 |
508 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA4643826 rs763464269 |
510 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370407945 rs763464269 |
510 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756796900 CA4643828 |
510 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA4643827 rs763464269 |
510 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4643825 rs760120762 |
511 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs752153854 CA4643824 |
512 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA4643823 rs766971895 |
512 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763467455 CA4643822 |
513 | P>L | No |
ClinGen ExAC gnomAD |
|
|
COSM245796 CA370407925 rs938400103 |
514 | R>* | prostate [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA172965557 rs938400103 |
514 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs773706780 CA4643821 COSM1097462 |
514 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA172965551 rs960975508 |
515 | Q>E | No |
ClinGen Ensembl |
|
|
rs1204939310 CA370407920 |
515 | Q>P | No |
ClinGen TOPMed |
|
|
CA370407889 rs1351319947 |
520 | Y>N | No |
ClinGen gnomAD |
|
|
CA4643819 rs770060065 |
521 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370407875 rs1369315944 |
522 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
CA4643818 rs117739013 |
522 | M>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1184742600 CA370407858 |
524 | V>A | No |
ClinGen TOPMed |
|
|
rs776791101 CA370407861 |
524 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4643817 rs776791101 |
524 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA172965531 rs79225989 |
525 | K>E | No |
ClinGen Ensembl |
|
|
CA370407832 rs1349242395 |
528 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA4643815 rs143429445 |
529 | Q>E | No |
ClinGen ESP ExAC gnomAD |
|
|
rs745671147 CA370407815 |
530 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA4643813 rs370071982 |
530 | Q>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4643810 rs762165708 |
532 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778518415 CA4643811 |
532 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA370407801 rs1189491327 |
533 | E>Q | No |
ClinGen gnomAD |
|
|
rs1490223869 CA370407793 |
534 | E>Q | No |
ClinGen gnomAD |
|
|
rs1004380602 CA172965502 |
535 | L>R | No |
ClinGen TOPMed |
|
|
CA4643808 rs777452727 |
536 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs767059408 CA4643805 |
539 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA370407764 rs767059408 |
539 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA4643804 rs758907262 |
539 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA370407756 rs1309171921 |
540 | E>K | No |
ClinGen TOPMed |
|
|
CA172964358 rs118181127 |
541 | R>M | No |
ClinGen 1000Genomes |
|
|
CA4643763 rs779344495 |
543 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs148830623 CA4643762 |
544 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA172964336 rs200905153 |
545 | I>M | No |
ClinGen 1000Genomes |
|
|
rs754170659 CA4643760 |
545 | I>N | No |
ClinGen ExAC |
|
|
CA370407599 rs778066206 |
547 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1586123970 CA370407592 |
548 | V>G | No |
ClinGen Ensembl |
|
|
CA370407586 rs1179303948 |
549 | Q>L | No |
ClinGen gnomAD |
|
|
CA4643758 rs756364309 |
551 | N>H | No |
ClinGen ExAC gnomAD |
|
|
rs1211114232 CA370407570 |
551 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1290244212 CA370407564 |
552 | C>* | No |
ClinGen gnomAD |
|
|
CA172964325 rs971171739 |
552 | C>R | No |
ClinGen gnomAD |
|
|
CA4643757 rs752956696 |
553 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA370407559 rs767705079 |
553 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA4643756 rs767705079 |
553 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA370407550 rs759594265 |
554 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4643754 rs751656595 |
555 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370407537 rs751656595 |
555 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1237087756 CA370407546 |
555 | V>M | No |
ClinGen gnomAD |
|
|
CA370407499 rs1586123793 |
557 | S>R | No |
ClinGen Ensembl |
|
|
CA4643752 rs762888547 |
558 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4643750 CA4643749 VAR_057144 rs3764796 |
559 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD UniProt dbSNP |
|
|
rs142161778 CA4643751 |
559 | Q>P | No |
ClinGen ESP ExAC |
|
|
CA4643748 rs776468318 |
560 | S>R | No |
ClinGen ExAC |
|
|
rs1586123715 CA370407451 |
561 | E>G | No |
ClinGen Ensembl |
|
|
CA370407458 rs1302516857 |
561 | E>K | No |
ClinGen gnomAD |
|
|
rs1420077048 CA370407441 |
562 | P>S | No |
ClinGen gnomAD |
|
|
CA370407344 rs1447571023 |
566 | S>* | No |
ClinGen gnomAD |
|
|
CA370407340 rs1156606200 |
567 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs993992392 CA172964295 |
567 | G>V | No |
ClinGen TOPMed |
|
|
CA4643746 rs746509014 |
569 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4643745 rs779561293 |
569 | S>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs746509014 CA172964288 |
569 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771367722 CA4643744 |
571 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs749766824 CA4643743 |
572 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA370407259 rs1480085933 |
572 | D>H | No |
ClinGen TOPMed |
|
| TCGA novel | 572 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA172964282 rs1006801412 |
573 | N>K | No |
ClinGen TOPMed |
|
|
rs778221615 CA4643742 |
574 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs376791845 CA172964274 |
574 | S>N | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1286705787 CA370407201 |
575 | I>L | No |
ClinGen gnomAD |
|
|
rs572712217 COSM1097460 CA4643741 |
576 | A>T | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
|
rs1407193713 CA370407173 |
576 | A>V | No |
ClinGen gnomAD |
|
|
rs781461737 CA4643739 |
577 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781461737 CA370407157 |
577 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4643737 rs201909678 |
578 | T>N | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
CA370407144 rs1343791381 |
578 | T>P | No |
ClinGen gnomAD |
|
|
CA4643736 rs201909678 |
578 | T>S | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
CA4643734 rs762156336 |
579 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs145244130 CA4643731 |
583 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4643732 rs570553080 |
583 | S>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4643729 rs760329234 |
584 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370406999 TCGA novel rs768209858 |
584 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen ExAC TOPMed gnomAD |
|
rs760329234 CA370406984 |
584 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4643730 rs768209858 |
584 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370406969 rs1295477012 |
585 | N>S | No |
ClinGen TOPMed |
|
|
rs774897870 CA4643728 |
587 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs771656673 CA4643727 |
588 | S>* | No |
ClinGen ExAC gnomAD |
|
|
CA4643726 rs745360913 |
589 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370406871 rs1222968046 |
590 | P>A | No |
ClinGen TOPMed |
|
|
rs773767458 CA370406852 |
591 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4643725 rs773767458 |
591 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4643722 rs781475753 |
592 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4643723 rs140365611 |
592 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 594 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs747210051 CA4643719 |
596 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370406779 rs1202048598 |
596 | Q>H | No |
ClinGen TOPMed |
|
|
CA4643717 rs367618699 |
598 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA172964178 COSM124528 rs367618699 |
598 | D>N | upper_aerodigestive_tract Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA4643716 rs367618699 |
598 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA370406730 rs1197994979 |
599 | E>A | No |
ClinGen TOPMed |
|
|
rs765331226 CA4643715 |
600 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4643714 rs757206258 |
601 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA4643713 rs753709798 |
602 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1409525471 CA370406678 |
602 | A>V | No |
ClinGen gnomAD |
|
|
rs1466778333 CA370406675 |
603 | L>V | No |
ClinGen gnomAD |
|
|
CA4643712 rs763910414 |
604 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA4643710 rs775265942 |
606 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs760356800 CA4643711 |
606 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA370406610 rs1563309685 |
608 | D>E | No |
ClinGen Ensembl |
|
|
CA4643708 rs180745155 |
608 | D>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA370406618 rs1407997329 |
608 | D>Y | No |
ClinGen TOPMed |
|
|
CA4643707 rs773786079 |
610 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs548143612 CA4643706 |
611 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4643705 rs748601938 |
612 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1342963003 CA370406513 |
614 | D>E | No |
ClinGen TOPMed |
|
|
rs1301330942 CA370406529 |
614 | D>H | No |
ClinGen TOPMed |
|
|
rs1301330942 CA370406527 |
614 | D>N | No |
ClinGen TOPMed |
|
|
rs151227644 CA4643704 |
615 | P>A | No |
ClinGen ESP ExAC |
|
|
rs1270786911 CA370406502 |
615 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1270091405 CA370406489 |
616 | D>G | No |
ClinGen TOPMed |
|
|
CA4643702 rs747312711 |
617 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4643701 rs529289862 |
619 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA370406422 rs758544072 |
620 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA370406431 rs1381562074 |
620 | N>S | No |
ClinGen gnomAD |
|
|
CA370406404 rs745944750 |
621 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745944750 CA4643699 |
621 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370406388 rs1352321290 |
622 | D>N | No |
ClinGen gnomAD |
|
|
CA172964111 rs768239482 |
623 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA370406322 rs1288896438 |
624 | E>D | No |
ClinGen TOPMed |
|
|
CA4643698 rs779089411 |
625 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA172964100 rs188725371 |
626 | G>R | No |
ClinGen 1000Genomes |
|
|
CA370406235 rs1443215058 |
631 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs763915529 CA4643695 |
632 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4643693 rs752434200 |
633 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA4643694 COSM3432231 rs368505826 |
633 | R>W | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA4643692 rs376345363 |
634 | S>Y | No |
ClinGen ESP ExAC gnomAD |
|
|
rs959655478 CA172964080 |
635 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA4643691 rs759133119 |
635 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA4643690 rs773871525 |
637 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA4643689 rs762414331 |
638 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs762414331 CA4643688 |
638 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA172964074 rs746532431 |
638 | G>S | No |
ClinGen Ensembl |
|
|
CA4643686 rs769029644 |
639 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779550602 CA4643687 |
639 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370406194 rs1310649636 |
639 | E>K | No |
ClinGen gnomAD |
|
|
rs1318307590 CA370406180 |
641 | A>E | No |
ClinGen TOPMed |
|
|
rs984771148 CA172964053 |
641 | A>T | No |
ClinGen TOPMed |
|
|
CA4643684 rs775648537 |
642 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370406169 rs1297066693 |
643 | S>N | No |
ClinGen gnomAD |
|
|
CA370406165 rs1316118179 |
643 | S>R | No |
ClinGen TOPMed |
|
|
CA370406155 rs1436597559 |
645 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1436597559 CA370406154 |
645 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA370406147 rs1312462282 |
646 | S>G | No |
ClinGen TOPMed |
|
|
CA580220604 rs1423123441 |
646 | S>R | No |
ClinGen gnomAD |
|
|
CA4643681 rs779246970 |
646 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs199741724 CA4643680 |
647 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs199741724 CA172964031 |
647 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1317359776 CA370406136 |
648 | K>E | No |
ClinGen gnomAD |
|
|
rs1283486185 COSM181956 CA370406119 |
650 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs1159639189 COSM1455827 CA370406120 |
650 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA370406116 rs1563309289 |
651 | D>N | No |
ClinGen Ensembl |
|
|
CA4643678 rs777837099 |
651 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs1205358913 CA370406105 |
652 | S>Y | No |
ClinGen TOPMed |
|
|
CA4643677 rs755942053 |
655 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA370406081 CA370406082 rs370812641 |
656 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4643675 rs370812641 |
656 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs751248856 CA4643672 |
659 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs751248856 CA370406059 |
659 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1314713888 CA370406053 |
660 | A>V | No |
ClinGen gnomAD |
|
|
rs1305909681 CA370406049 |
661 | A>S | No |
ClinGen gnomAD |
No associated diseases with Q9Y216
1 regional properties for Q9Y216
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Transcription factor CBF/NF-Y/archaeal histone domain | 9 - 73 | IPR003958 |
Functions
| Description | ||
|---|---|---|
| EC Number | 3.1.3.64 | Phosphoric monoester hydrolases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| endomembrane system | A collection of membranous structures involved in transport within the cell. The main components of the endomembrane system are endoplasmic reticulum, Golgi bodies, vesicles, cell membrane and nuclear envelope. Members of the endomembrane system pass materials through each other or though the use of vesicles. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| inositol bisphosphate phosphatase activity | Catalysis of the reaction: myo-inositol bisphosphate + H2O = myo-inositol phosphate + phosphate. |
| phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity | Catalysis of the reaction: 1-phosphatidyl-1D-myo-inositol 3,5-bisphosphate + H2O = a 1-phosphatidyl-1D-myo-inositol 5-phosphate + phosphate + 2 H+. |
| phosphatidylinositol-3-phosphatase activity | Catalysis of the reaction: 1-phosphatidyl-1D-myo-inositol 3-phosphate + H2O = 1-phosphatidyl-1D-myo-inositol + phosphate. |
| protein tyrosine phosphatase activity | Catalysis of the reaction: protein tyrosine phosphate + H2O = protein tyrosine + phosphate. |
4 GO annotations of biological process
| Name | Definition |
|---|---|
| inositol phosphate dephosphorylation | The process of removing a phosphate group from any mono- or polyphosphorylated inositol. |
| phosphatidylinositol biosynthetic process | The chemical reactions and pathways resulting in the formation of phosphatidylinositol, any glycophospholipid in which the sn-glycerol 3-phosphate residue is esterified to the 1-hydroxyl group of 1D-myo-inositol. |
| phosphatidylinositol dephosphorylation | The process of removing one or more phosphate groups from a phosphatidylinositol. |
| protein dephosphorylation | The process of removing one or more phosphoric residues from a protein. |
10 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q5F452 | MTMR8 | Myotubularin-related protein 8 | Gallus gallus (Chicken) | PR |
| Q86WG5 | SBF2 | Myotubularin-related protein 13 | Homo sapiens (Human) | PR |
| O95248 | SBF1 | Myotubularin-related protein 5 | Homo sapiens (Human) | PR |
| Q13613 | MTMR1 | Myotubularin-related protein 1 | Homo sapiens (Human) | PR |
| Q13496 | MTM1 | Myotubularin | Homo sapiens (Human) | PR |
| Q13614 | MTMR2 | Myotubularin-related protein 2 | Homo sapiens (Human) | PR |
| Q96QG7 | MTMR9 | Myotubularin-related protein 9 | Homo sapiens (Human) | PR |
| Q9Y217 | MTMR6 | Myotubularin-related protein 6 | Homo sapiens (Human) | PR |
| Q9Z2C9 | Mtmr7 | Myotubularin-related protein 7 | Mus musculus (Mouse) | PR |
| A2BGG1 | mtmr12 | Myotubularin-related protein 12 | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MEHIRTPKVE | NVRLVDRVSP | KKAALGTLYL | TATHVIFVEN | SPDPRKETWI | LHSQISTIEK |
| 70 | 80 | 90 | 100 | 110 | 120 |
| QATTATGCPL | LIRCKNFQII | QLIIPQERDC | HDVYISLIRL | ARPVKYEELY | CFSFNPMLDK |
| 130 | 140 | 150 | 160 | 170 | 180 |
| EEREQGWVLI | DLSEEYTRMG | LPNHYWQLSD | VNRDYRVCDS | YPTELYVPKS | ATAHIIVGSS |
| 190 | 200 | 210 | 220 | 230 | 240 |
| KFRSRRRFPV | LSYYYKDNHA | SICRSSQPLS | GFSARCLEDE | QMLQAIRKAN | PGSDFVYVVD |
| 250 | 260 | 270 | 280 | 290 | 300 |
| TRPKLNAMAN | RAAGKGYENE | DNYSNIKFQF | IGIENIHVMR | NSLQKMLEVC | ELKSPSMSDF |
| 310 | 320 | 330 | 340 | 350 | 360 |
| LWGLENSGWL | RHIKAIMDAG | IFIAKAVSEE | GASVLVHCSD | GWDRTAQVCS | VASLLLDPHY |
| 370 | 380 | 390 | 400 | 410 | 420 |
| RTLKGFMVLI | EKDWISFGHK | FNHRYGNLDG | DPKEISPVID | QFIECVWQLM | EQFPCAFEFN |
| 430 | 440 | 450 | 460 | 470 | 480 |
| ERFLIHIQHH | IYSCQFGNFL | CNSQKERREL | KIQERTYSLW | AHLWKNRADY | LNPLFRADHS |
| 490 | 500 | 510 | 520 | 530 | 540 |
| QTQGTLHLPT | TPCNFMYKFW | SGMYNRFEKG | MQPRQSVTDY | LMAVKEETQQ | LEEELEALEE |
| 550 | 560 | 570 | 580 | 590 | 600 |
| RLEKIQKVQL | NCTKVKSKQS | EPSKHSGFST | SDNSIANTPQ | DYSGNMKSFP | SRSPSQGDED |
| 610 | 620 | 630 | 640 | 650 | |
| SALILTQDNL | KSSDPDLSAN | SDQESGVEDL | SCRSPSGGEH | APSEDSGKDR | DSDEAVFLTA |