P54840
PR
Gene name |
GYS2 |
Protein name |
Glycogen [starch] synthase, liver |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:2998 |
EC number |
2.4.1.11: Hexosyltransferases |
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 P54840
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-P54840-F1 | Predicted | AlphaFoldDB |
623 variants for P54840
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA6480290 rs376935348 RCV000824324 |
17 | Q>R | Glycogen storage disorder due to hepatic glycogen synthase deficiency [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs777214550 CA234079668 RCV001928151 |
39 | N>K | Glycogen storage disorder due to hepatic glycogen synthase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000017432 VAR_007860 CA126173 rs121918423 |
39 | N>S | Glycogen storage disorder due to hepatic glycogen synthase deficiency GSD0 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
CA10640673 rs886049162 RCV000352357 |
52 | A>T | Variant assessed as Somatic; 0.0 impact. Glycogen storage disorder due to hepatic glycogen synthase deficiency [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
CA6480252 rs574787003 RCV001115118 |
72 | H>R | Variant assessed as Somatic; 0.0 impact. Glycogen storage disorder due to hepatic glycogen synthase deficiency [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA dbSNP gnomAD |
|
rs34225615 RCV001081321 RCV000675357 RCV000125330 CA291139 |
94 | A>T | Glycogen storage disorder due to hepatic glycogen synthase deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000386889 CA10632436 rs886049161 |
97 | K>E | Glycogen storage disorder due to hepatic glycogen synthase deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000196043 CA320440 RCV002517222 rs144077289 |
100 | C>Y | Glycogen storage disorder due to hepatic glycogen synthase deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA291141 RCV000329997 RCV000125331 RCV003221813 COSM1165197 rs149533049 |
141 | G>S | large_intestine Glycogen storage disorder due to hepatic glycogen synthase deficiency [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA6480201 RCV001067910 COSM1719026 rs376712209 |
143 | P>S | Variant assessed as Somatic; 0.0 impact. NS Glycogen storage disorder due to hepatic glycogen synthase deficiency [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA dbSNP gnomAD |
|
rs1307281520 RCV000591223 RCV002532435 |
152 | M>* | Glycogen storage disorder due to hepatic glycogen synthase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001206520 rs763929651 |
155 | F>missing | Glycogen storage disorder due to hepatic glycogen synthase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001294991 rs774019135 CA6480192 |
157 | S>F | Glycogen storage disorder due to hepatic glycogen synthase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs937397555 RCV000428218 CA16606483 RCV002524869 |
174 | Y>H | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
COSM937971 RCV000912120 RCV002540838 rs752277622 CA6480151 |
176 | V>I | endometrium Glycogen storage disorder due to hepatic glycogen synthase deficiency Inborn genetic diseases [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA324355 RCV000763306 RCV000199810 rs201157731 |
183 | Q>* | Glycogen storage disorder due to hepatic glycogen synthase deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA320662 rs150382575 RCV000196241 RCV000763305 |
192 | R>* | Variant assessed as Somatic; 0.0 impact. Glycogen storage disorder due to hepatic glycogen synthase deficiency [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000642239 CA6480142 VAR_055885 RCV000245833 RCV002510833 rs16924038 |
193 | A>T | Glycogen storage disorder due to hepatic glycogen synthase deficiency [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA384136772 RCV001238330 rs1169286490 |
218 | I>T | Glycogen storage disorder due to hepatic glycogen synthase deficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
COSM297373 CA126167 RCV002251909 RCV000017427 rs121918419 RCV000605157 RCV002251426 |
246 | R>* | large_intestine Glycogen storage disease Glycogen storage disorder due to hepatic glycogen synthase deficiency [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA6480100 RCV001339502 rs779543684 |
251 | C>W | Glycogen storage disorder due to hepatic glycogen synthase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA10641590 RCV000322854 rs886049160 |
252 | A>G | Glycogen storage disorder due to hepatic glycogen synthase deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA6480094 rs768020573 RCV001111700 |
267 | E>K | Glycogen storage disorder due to hepatic glycogen synthase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
COSM937968 CA233607431 RCV000693335 rs267603422 |
309 | R>* | Variant assessed as Somatic; 0.0 impact. endometrium skin urinary_tract Glycogen storage disorder due to hepatic glycogen synthase deficiency [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs121918421 RCV001092386 VAR_007861 RCV000017430 CA126171 |
339 | A>P | Glycogen storage disorder due to hepatic glycogen synthase deficiency GSD0 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV001009065 RCV000826208 rs771205749 |
361 | T>missing | Glycogen storage disease [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000242605 RCV000297841 rs2306180 CA6479989 RCV000675355 VAR_058848 |
363 | M>V | Glycogen storage disorder due to hepatic glycogen synthase deficiency [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA233604829 RCV001109381 rs199855783 |
377 | V>M | Glycogen storage disorder due to hepatic glycogen synthase deficiency [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000690083 CA6479981 rs146195866 |
386 | R>* | Glycogen storage disorder due to hepatic glycogen synthase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA6479950 rs763052951 RCV001115019 |
391 | D>Y | Glycogen storage disorder due to hepatic glycogen synthase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
VAR_055886 RCV000290939 CA291143 rs16924002 RCV000125332 |
415 | D>E | Glycogen storage disorder due to hepatic glycogen synthase deficiency [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs776104371 RCV001224406 COSM94436 CA6479864 |
445 | T>M | lung Glycogen storage disorder due to hepatic glycogen synthase deficiency [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
VAR_007862 RCV000017434 rs121918425 CA126175 |
446 | H>D | Glycogen storage disorder due to hepatic glycogen synthase deficiency GSD0 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
rs886049156 RCV000286920 CA10641585 |
473 | V>G | Glycogen storage disorder due to hepatic glycogen synthase deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA126170 RCV001582484 rs121918420 RCV000017429 VAR_007863 |
479 | P>Q | Glycogen storage disorder due to hepatic glycogen synthase deficiency GSD0 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
VAR_007864 rs121918424 CA126174 RCV000017433 |
483 | S>P | Glycogen storage disorder due to hepatic glycogen synthase deficiency GSD0 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA126172 RCV000017431 VAR_007865 rs121918422 |
491 | M>R | Glycogen storage disorder due to hepatic glycogen synthase deficiency GSD0 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV000622813 CA6479808 rs539369206 RCV002532846 |
493 | Y>N | Glycogen storage disorder due to hepatic glycogen synthase deficiency Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV000264949 CA10637024 rs199936257 |
517 | A>P | Glycogen storage disorder due to hepatic glycogen synthase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000375881 rs150433001 CA320703 |
518 | E>A | Glycogen storage disorder due to hepatic glycogen synthase deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000125334 rs61733199 RCV000675350 CA291147 RCV000318805 |
546 | T>A | Glycogen storage disorder due to hepatic glycogen synthase deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000803417 CA6479727 rs148617918 COSM692801 RCV002534745 |
558 | R>C | lung Variant assessed as Somatic; 0.0 impact. Glycogen storage disorder due to hepatic glycogen synthase deficiency Inborn genetic diseases [Cosmic, NCI-TCGA, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA6479707 RCV000642238 rs369069984 |
582 | R>K | Glycogen storage disorder due to hepatic glycogen synthase deficiency [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA6479703 RCV000808979 rs202136674 |
592 | L>V | Glycogen storage disorder due to hepatic glycogen synthase deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000370418 rs767441371 CA6479699 |
597 | D>G | Glycogen storage disorder due to hepatic glycogen synthase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs886049155 CA10641584 RCV000313387 |
607 | H>R | Glycogen storage disorder due to hepatic glycogen synthase deficiency [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001205912 CA6479676 rs751455210 |
610 | H>R | Glycogen storage disorder due to hepatic glycogen synthase deficiency [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA6479667 rs182582633 RCV001111599 |
627 | S>L | Glycogen storage disorder due to hepatic glycogen synthase deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000892112 CA6479666 rs140646346 |
630 | T>M | Glycogen storage disorder due to hepatic glycogen synthase deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA6479649 RCV000815562 rs143798221 |
636 | Y>H | Glycogen storage disorder due to hepatic glycogen synthase deficiency [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000675349 RCV000125336 RCV000309738 rs117639846 CA291151 |
655 | Q>H | Glycogen storage disorder due to hepatic glycogen synthase deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1181756742 RCV000778362 |
659 | V>missing | Glycogen storage disorder due to hepatic glycogen synthase deficiency [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000675348 rs142656537 RCV000344951 CA323441 COSM3416711 RCV000198908 |
669 | D>N | large_intestine Glycogen storage disorder due to hepatic glycogen synthase deficiency [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000306393 RCV000125337 CA291153 rs117474773 RCV001531148 |
685 | F>S | Glycogen storage disorder due to hepatic glycogen synthase deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs148461282 CA6479619 RCV002539417 |
690 | V>F | Glycogen storage disorder due to hepatic glycogen synthase deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001417040 CA6479618 rs144564037 |
691 | P>L | Glycogen storage disorder due to hepatic glycogen synthase deficiency [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA384296116 rs1223813221 |
2 | L>I | No |
ClinGen gnomAD |
|
|
rs750090305 CA6480303 |
3 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs764394742 CA6480302 |
4 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA6480301 rs775874593 |
5 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6480300 rs775874593 |
5 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6480299 rs535288005 |
5 | R>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6480298 rs141614479 |
6 | S>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1401317610 CA384295979 |
11 | S>F | No |
ClinGen gnomAD |
|
|
rs1179574081 CA384295990 |
11 | S>P | No |
ClinGen gnomAD |
|
|
rs747176029 CA6480295 |
12 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs772461189 CA6480293 |
13 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA234079670 rs200917760 |
15 | L>F | No |
ClinGen Ensembl |
|
|
rs747932329 CA234079669 |
16 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747932329 CA6480292 |
16 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
TCGA novel CA6480289 rs749251980 |
17 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen ExAC TOPMed gnomAD |
| TCGA novel | 18 | W>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM1299224 rs1409001505 CA384295826 |
21 | E>Q | Variant assessed as Somatic; impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA6480286 rs750040511 |
23 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA384295805 rs1197384808 |
24 | P>T | No |
ClinGen gnomAD |
|
|
rs1418654756 CA384295796 |
25 | V>A | No |
ClinGen TOPMed |
|
|
CA6480285 rs767128558 |
26 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1470327566 CA384295780 |
27 | E>D | No |
ClinGen TOPMed |
|
| TCGA novel | 29 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA384295769 rs1242569336 |
29 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs756956421 CA6480284 |
32 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753050580 CA6480283 |
33 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA384295725 rs1591816790 |
36 | E>K | No |
ClinGen Ensembl |
|
|
rs765703616 CA6480282 |
39 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA384139722 rs1336397751 |
42 | G>E | No |
ClinGen gnomAD |
|
|
CA384139672 rs780740780 |
45 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs780740780 CA6480267 |
45 | Y>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 45 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6480265 rs756901644 |
48 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199980772 CA233623104 |
48 | I>V | No |
ClinGen TOPMed |
|
|
CA233623094 rs1038631937 |
49 | Q>* | No |
ClinGen TOPMed |
|
|
rs1229680625 CA384139618 |
49 | Q>H | No |
ClinGen TOPMed |
|
|
rs751232960 CA6480264 |
50 | T>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 50 | T>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA384139597 rs886049162 |
52 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA384139563 rs1378899165 |
55 | T>A | No |
ClinGen gnomAD |
|
| TCGA novel | 57 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
TCGA novel CA6480260 rs201868350 |
59 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC TOPMed gnomAD NCI-TCGA |
|
CA6480259 rs201868350 |
59 | W>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750525944 COSM1209237 CA6480257 |
61 | E>D | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA384139424 rs1290083695 |
62 | N>K | No |
ClinGen TOPMed |
|
|
rs1565607596 CA384139440 |
62 | N>Y | No |
ClinGen Ensembl |
|
|
rs1450570025 CA384139410 |
63 | Y>C | No |
ClinGen TOPMed |
|
|
rs1591803486 CA384139388 |
64 | F>C | No |
ClinGen Ensembl |
|
|
rs1218654364 CA384139397 |
64 | F>L | No |
ClinGen TOPMed |
|
|
CA6480254 rs762069552 |
66 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA6480255 rs767709466 |
66 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs774656122 CA384139307 |
69 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs554881012 CA6480251 |
73 | N>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1243790256 CA384139226 |
74 | M>L | No |
ClinGen TOPMed |
|
|
CA384139096 rs146200724 |
81 | C>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6480249 rs146200724 |
81 | C>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6480248 rs745875719 |
83 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384139059 rs1345027888 |
83 | P>S | No |
ClinGen gnomAD |
|
|
rs1359210515 CA384139049 |
84 | V>I | No |
ClinGen gnomAD |
|
|
rs1318026904 CA384139027 |
85 | N>S | No |
ClinGen gnomAD |
|
|
CA384139012 rs1401658816 |
86 | D>Y | No |
ClinGen gnomAD |
|
|
rs1409635734 CA384138996 |
87 | A>S | No |
ClinGen gnomAD |
|
|
rs1050896862 CA233622910 |
88 | V>I | No |
ClinGen TOPMed |
|
|
RCV000196989 rs779704436 CA321416 |
93 | D>E | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs34225615 CA384138918 |
94 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1363490595 CA384138892 |
97 | K>M | No |
ClinGen TOPMed |
|
|
rs1479342425 CA384138885 |
98 | H>R | No |
ClinGen gnomAD |
|
|
rs754215144 CA6480243 |
99 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA6480242 rs144077289 |
100 | C>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA384138427 rs1591800840 |
102 | V>G | No |
ClinGen Ensembl |
|
|
CA6480224 rs376308462 |
103 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 105 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 106 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1364491647 CA384138392 |
107 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1215714641 CA384138397 |
107 | W>R | No |
ClinGen gnomAD |
|
|
rs1284586998 CA384138368 |
111 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA384138350 rs1565605986 |
113 | P>L | No |
ClinGen Ensembl |
|
|
CA233619712 rs890971908 |
113 | P>S | No |
ClinGen Ensembl |
|
|
CA6480221 rs757754937 |
114 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA6480219 rs764149075 |
115 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA6480217 rs752934036 |
116 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA6480218 rs758582300 |
116 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758582300 CA233619689 |
116 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6480216 rs764967152 |
118 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs759292321 CA6480215 |
119 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1227967058 CA384138311 |
120 | I>K | No |
ClinGen TOPMed |
|
| TCGA novel | 120 | I>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6480213 rs766324299 |
125 | W>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6480212 rs760594068 |
127 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1217435046 CA384138253 |
129 | R>G | No |
ClinGen TOPMed |
|
|
rs1565605946 CA384138250 |
129 | R>K | No |
ClinGen Ensembl |
|
|
CA384138241 rs1205332809 |
130 | W>* | No |
ClinGen gnomAD |
|
|
rs772776137 CA6480211 |
130 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs373285780 CA233619651 |
131 | K>N | No |
ClinGen ESP TOPMed gnomAD |
|
|
RCV000198897 rs541099681 CA323426 |
132 | G>D | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs1591800710 CA384138191 |
133 | D>A | No |
ClinGen Ensembl |
|
|
CA6480209 rs774186653 |
133 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6480207 rs746184836 |
134 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA384138161 rs781699106 |
137 | A>E | No |
ClinGen ExAC gnomAD |
|
|
CA384138164 rs1179811379 |
137 | A>T | No |
ClinGen TOPMed |
|
|
CA6480206 rs781699106 |
137 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA384138158 rs747533320 |
138 | C>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6480204 rs747533320 |
138 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384138156 rs1162919810 |
138 | C>S | No |
ClinGen gnomAD |
|
|
CA233619596 rs946381757 |
139 | S>G | No |
ClinGen Ensembl |
|
|
rs149533049 CA384138139 |
141 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs753566404 CA6480199 |
144 | Y>* | No |
ClinGen ExAC |
|
|
rs755209494 CA6480200 |
144 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA384138091 rs1389217410 |
145 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA384138080 rs1591800646 |
146 | D>A | No |
ClinGen Ensembl |
|
|
CA6480198 rs187237403 |
146 | D>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA233619513 rs748996941 |
147 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
CA384138068 rs760649869 |
147 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA6480197 rs760649869 COSM937972 |
147 | R>Q | endometrium Variant assessed as Somatic; 4.625e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA384137828 rs1591800629 |
148 | E>K | No |
ClinGen Ensembl |
|
|
CA233619507 rs573849661 |
149 | A>D | No |
ClinGen 1000Genomes gnomAD |
|
|
CA6480196 rs773073036 |
150 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6480195 rs767023189 |
151 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752480125 CA233619498 COSM1360688 |
154 | I>L | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA6480194 rs200401082 |
154 | I>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1364963978 CA384137675 |
155 | F>C | No |
ClinGen gnomAD |
|
|
CA384137681 rs1308654670 |
155 | F>L | No |
ClinGen TOPMed |
|
|
CA384137630 rs774019135 |
157 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777046998 CA6480189 |
160 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6480188 rs771255228 |
161 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747524222 CA6480187 |
163 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs1408444336 CA384137289 |
168 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA384137291 rs1408444336 |
168 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
rs757253721 CA6480156 |
171 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA6480155 rs751602259 |
172 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384137173 rs752277622 |
176 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1038017928 CA233617790 |
178 | Q>K | No |
ClinGen TOPMed |
|
|
rs373237271 CA6480149 |
180 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA233617773 rs139544285 COSM109415 |
180 | H>Y | Variant assessed as Somatic; impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA384137074 rs138104080 |
181 | E>D | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA6480147 rs767930084 |
182 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA384137031 rs1314595265 |
184 | A>P | No |
ClinGen gnomAD |
|
|
CA384137035 rs1314595265 |
184 | A>S | No |
ClinGen gnomAD |
|
|
rs1453718755 CA384137027 |
184 | A>V | No |
ClinGen gnomAD |
|
|
CA384137012 rs1380022003 |
185 | G>E | No |
ClinGen TOPMed |
|
|
CA320383 rs376889935 RCV000195993 |
186 | I>F | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs756832577 CA233617744 |
187 | G>V | No |
ClinGen Ensembl |
|
|
rs749278638 CA6480145 |
189 | I>N | No |
ClinGen ExAC gnomAD |
|
|
CA384136929 rs1423122370 |
192 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA384136921 rs1163803477 |
194 | R>K | No |
ClinGen gnomAD |
|
|
CA384136884 rs1180389989 |
199 | A>V | No |
ClinGen gnomAD |
|
|
rs757163733 CA6480141 |
201 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs1252574428 CA384136867 |
202 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
CA384136857 rs1180566513 |
204 | T>A | No |
ClinGen TOPMed |
|
|
CA233617710 rs373914217 |
204 | T>I | No |
ClinGen ESP ExAC gnomAD |
|
|
CA6480139 rs373914217 |
204 | T>N | No |
ClinGen ESP ExAC gnomAD |
|
|
CA6480140 rs373914217 |
204 | T>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA384136848 rs569279347 |
205 | H>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6480137 rs752084874 |
205 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384136846 rs754575574 |
206 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA6480135 rs754575574 |
206 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA6480134 rs753578280 |
209 | L>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 211 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA233617667 rs139047283 |
212 | Y>C | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1416873744 CA384136812 |
212 | Y>H | No |
ClinGen gnomAD |
|
|
rs1365531387 CA384136801 |
213 | L>R | No |
ClinGen gnomAD |
|
|
CA6480131 rs774720974 |
214 | C>Y | No |
ClinGen ExAC TOPMed |
|
|
CA6480130 rs764527481 |
215 | A>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 216 | A>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA233617643 rs997685331 |
216 | A>T | No |
ClinGen Ensembl |
|
|
rs1407440750 CA384136779 |
217 | N>I | No |
ClinGen gnomAD |
|
| TCGA novel | 218 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA233617628 rs762802642 |
218 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA384136692 rs1389619260 |
224 | L>H | No |
ClinGen TOPMed |
|
|
CA384136684 rs1470172143 |
225 | D>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA6480129 rs763520736 |
225 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384136670 rs1196682962 |
226 | K>E | No |
ClinGen gnomAD |
|
|
CA384135732 rs1401684592 |
227 | F>S | No |
ClinGen TOPMed |
|
|
rs933343852 CA233613154 |
229 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
CA384135711 rs1323007875 |
230 | D>G | No |
ClinGen gnomAD |
|
|
CA384135714 rs1330917823 |
230 | D>N | No |
ClinGen TOPMed |
|
|
CA384135701 rs1591796146 |
231 | K>N | No |
ClinGen Ensembl |
|
|
CA233613134 rs1015314305 |
232 | E>A | No |
ClinGen TOPMed |
|
|
CA384135695 rs764507219 |
232 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA384135698 rs146467702 |
232 | E>K | No |
ClinGen ESP ExAC gnomAD |
|
|
rs146467702 CA6480114 |
232 | E>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
CA384135693 rs1360520572 |
233 | A>T | No |
ClinGen gnomAD |
|
|
rs142484821 CA6480112 |
233 | A>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA384135685 rs1431942775 |
234 | G>E | No |
ClinGen gnomAD |
|
|
CA384135670 rs1565603127 |
236 | R>K | No |
ClinGen Ensembl |
|
|
CA6480109 CA6480108 rs776868890 |
237 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765197647 CA6480111 |
237 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765197647 CA6480110 |
237 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384135641 rs1451269222 |
240 | H>Q | No |
ClinGen gnomAD |
|
|
CA6480107 rs151087668 |
241 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA6480106 rs761049603 |
243 | C>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs142937277 CA233613080 |
243 | C>R | No |
ClinGen ESP |
|
|
rs890394980 CA233613070 |
244 | M>K | No |
ClinGen TOPMed gnomAD |
|
|
CA384135619 rs890394980 |
244 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1418749030 CA384135610 |
245 | E>G | No |
ClinGen gnomAD |
|
|
rs771954836 CA233613063 |
246 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771954836 CA6480105 |
246 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs778872253 CA6480103 |
249 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs778872253 CA384135592 |
249 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384135583 rs1176697145 |
250 | H>R | No |
ClinGen TOPMed |
|
| TCGA novel | 251 | C>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6480099 rs755758873 |
254 | V>L | No |
ClinGen ExAC gnomAD |
|
|
COSM415917 rs755758873 CA384135558 |
254 | V>M | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1306201290 CA384135535 |
257 | T>M | No |
ClinGen gnomAD |
|
|
rs750131363 CA6480098 |
258 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 259 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6480097 rs777976148 |
260 | E>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 260 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA384135508 rs1312426146 |
262 | T>A | No |
ClinGen gnomAD |
|
|
CA6480096 rs758833728 |
263 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA6480095 rs753031363 |
266 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384135482 rs753031363 |
266 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1591796032 CA384135448 |
269 | M>I | No |
ClinGen Ensembl |
|
|
rs759968632 CA6480093 |
269 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6480092 rs375739160 |
270 | L>P | No |
ClinGen ESP ExAC TOPMed |
|
|
rs766627107 CA6480091 |
271 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA233612934 rs915077196 |
271 | K>R | No |
ClinGen Ensembl |
|
|
rs760961109 CA6480090 |
272 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA384135418 rs1162718152 |
272 | R>T | No |
ClinGen gnomAD |
|
|
rs989755227 CA233612913 |
273 | K>N | No |
ClinGen gnomAD |
|
|
rs574791346 CA6480089 |
273 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA6480088 rs770708497 |
274 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA384135397 rs1329048089 |
274 | P>S | No |
ClinGen TOPMed |
|
|
rs1266840351 CA384134279 |
275 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1489045410 CA384134287 |
275 | D>G | No |
ClinGen gnomAD |
|
|
CA233607513 rs977562944 |
279 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA6480071 rs767722149 COSM430891 |
281 | G>S | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs761946592 CA6480070 |
282 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA384134132 rs1343497978 |
283 | N>D | No |
ClinGen gnomAD |
|
|
rs1414686136 CA384134085 |
285 | K>N | No |
ClinGen TOPMed |
|
|
CA6480068 rs763853839 |
286 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA384133998 rs1369509709 |
289 | A>V | No |
ClinGen gnomAD |
|
|
CA384133964 rs1451839097 |
291 | H>L | No |
ClinGen gnomAD |
|
|
CA384133966 rs1451839097 |
291 | H>R | No |
ClinGen gnomAD |
|
|
CA384133958 rs1473101664 |
292 | E>K | No |
ClinGen TOPMed |
|
|
CA6480065 rs145848121 |
295 | N>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA6480064 rs201431712 |
296 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6480062 rs770616190 |
297 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1427800974 CA384133872 |
297 | H>Y | No |
ClinGen gnomAD |
|
|
rs1269851237 CA384133853 |
298 | A>D | No |
ClinGen gnomAD |
|
|
rs1048222927 CA233607458 |
298 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA384133849 rs1269851237 |
298 | A>V | No |
ClinGen gnomAD |
|
|
CA384133837 rs1485301586 |
299 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1374253512 CA384133806 |
301 | K>E | No |
ClinGen TOPMed |
|
|
CA233607434 rs373811432 |
303 | R>G | No |
ClinGen ESP |
|
|
CA6480061 rs746701510 |
305 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs755437317 CA6480059 |
308 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA6480060 rs779316853 |
308 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA384133626 rs779316853 |
308 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs267603422 CA6480058 |
309 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384133591 rs1233947907 |
309 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA233607425 rs1024361436 |
310 | G>D | No |
ClinGen TOPMed |
|
|
rs780661195 CA6480057 |
310 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1381447229 CA384133441 |
313 | Y>C | No |
ClinGen gnomAD |
|
|
CA384133394 rs1361464285 |
314 | G>A | No |
ClinGen gnomAD |
|
|
rs781309842 CA6480034 |
317 | D>N | No |
ClinGen ExAC |
|
|
RCV000420136 CA16603182 rs1057520068 |
319 | D>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 320 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA384133136 rs1297028247 |
321 | E>* | No |
ClinGen gnomAD |
|
|
rs1475051645 CA384133126 |
321 | E>A | No |
ClinGen TOPMed |
|
|
rs1475051645 CA384133123 |
321 | E>V | No |
ClinGen TOPMed |
|
|
COSM1360686 CA6480033 rs757319049 CA384133084 |
322 | K>N | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD NCI-TCGA |
|
rs751691064 CA6480032 |
323 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs867447498 CA6480030 |
323 | T>I | No |
ClinGen Ensembl |
|
|
rs751691064 CA384133082 |
323 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs777920314 CA6480029 |
324 | L>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 325 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA384132836 rs1405709343 |
328 | I>T | No |
ClinGen TOPMed |
|
|
rs758630266 CA6480028 |
329 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs867225626 CA233607142 |
330 | G>V | No |
ClinGen Ensembl |
|
|
COSM161447 CA6480027 rs752418901 |
331 | R>K | breast [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs201958662 CA233607133 |
331 | R>S | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA6480026 rs765080484 |
332 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
CA384132697 rs1565600539 |
333 | E>Q | No |
ClinGen Ensembl |
|
|
rs759499770 CA6480024 |
335 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1219981050 CA384132558 |
338 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA6480023 rs370654455 |
338 | G>R | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 341 | I>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1245603121 CA384132475 |
341 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 343 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA233607097 rs1040384502 |
347 | S>P | No |
ClinGen TOPMed |
|
|
CA6480019 rs761626254 |
348 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs1300914093 CA384132250 |
349 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1466863841 CA384132179 |
353 | L>M | No |
ClinGen TOPMed |
|
|
rs770330324 CA6480017 |
354 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746354865 CA6480016 |
354 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA6479995 rs539605275 |
356 | H>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA384130997 rs1340132155 |
357 | K>Q | No |
ClinGen TOPMed |
|
|
rs1216971303 CA384130979 |
358 | S>G | No |
ClinGen TOPMed |
|
|
CA233604912 rs907754454 |
358 | S>I | No |
ClinGen Ensembl |
|
| TCGA novel | 358 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs907754454 CA233604916 |
358 | S>T | No |
ClinGen Ensembl |
|
|
CA384130956 rs905014301 |
359 | D>A | No |
ClinGen TOPMed gnomAD |
|
|
rs905014301 CA233604894 |
359 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA384130940 rs1319550962 |
360 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1473130146 CA384130947 |
360 | I>V | No |
ClinGen gnomAD |
|
|
CA384130934 rs1268363862 |
361 | T>P | No |
ClinGen gnomAD |
|
|
rs773264073 CA6479990 |
362 | V>E | No |
ClinGen ExAC gnomAD |
|
|
rs747579633 CA6479991 |
362 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs2306180 CA384130909 |
363 | M>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6479988 rs748262565 |
364 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs951919278 CA233604857 |
365 | F>I | No |
ClinGen Ensembl |
|
|
CA384130865 rs1264192679 |
366 | F>S | No |
ClinGen TOPMed |
|
|
CA384130853 rs1474338509 |
367 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1489516304 CA384130823 |
369 | P>R | No |
ClinGen TOPMed |
|
|
rs1489497076 CA384130805 |
371 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA384130801 rs1262849211 |
371 | K>T | No |
ClinGen TOPMed |
|
|
CA384130791 rs1266157518 |
372 | T>A | No |
ClinGen gnomAD |
|
|
CA6479985 rs377377357 |
377 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1249925492 CA384130684 |
379 | T>I | No |
ClinGen gnomAD |
|
| TCGA novel | 380 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1162675345 CA384130675 |
381 | K>E | No |
ClinGen TOPMed |
|
|
CA6479984 rs748970056 |
382 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs1201887690 CA384130668 |
382 | G>R | No |
ClinGen gnomAD |
|
|
rs779968411 CA6479983 |
383 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6479982 rs755993426 |
384 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1420168544 CA384130651 |
385 | V>M | No |
ClinGen TOPMed |
|
|
rs751135925 CA6479979 |
386 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751135925 CA6479978 COSM275412 |
386 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA6479977 rs763592041 |
388 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs762667150 CA6479976 |
390 | W>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763052951 CA6479951 |
391 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1321973590 CA384130582 |
394 | H>Y | No |
ClinGen gnomAD |
|
|
rs372161233 CA6479948 |
396 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1434104089 CA384130548 |
397 | K>Q | No |
ClinGen TOPMed |
|
|
rs770984440 CA6479945 |
398 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA384130525 rs781135571 |
398 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs781135571 CA6479946 |
398 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747023579 CA6479944 |
399 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs757888229 CA6479942 |
401 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA6479941 rs375464696 |
401 | G>V | No |
ClinGen ESP ExAC |
|
| rs777954647 | 403 | K>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA233603947 rs1011182526 |
403 | K>N | No |
ClinGen TOPMed |
|
| rs777954647 | 404 | L>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6479939 rs778574082 |
405 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA6479936 rs750784003 |
407 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6479933 rs549867208 |
410 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA384130280 rs1565598904 |
410 | R>T | No |
ClinGen Ensembl |
|
|
CA384129157 rs1425820544 |
411 | G>R | No |
ClinGen TOPMed |
|
|
CA384129052 rs1364774666 |
414 | P>L | No |
ClinGen gnomAD |
|
|
CA6479907 rs772046871 |
416 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs139882761 CA233603443 |
417 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA384128961 rs1167132687 |
418 | D>E | No |
ClinGen gnomAD |
|
|
CA384128967 rs1361212647 |
418 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA6479904 rs370887018 |
418 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370887018 CA6479903 |
418 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1361212647 CA384128963 |
418 | D>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 420 | L>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6479901 rs755733385 COSM2005173 |
422 | R>* | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
| TCGA novel | 423 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1421611018 CA384128782 |
424 | D>E | No |
ClinGen gnomAD |
|
|
CA6479900 rs200907849 |
424 | D>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 425 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs150557084 RCV000198132 CA322622 |
426 | T>I | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs201855039 CA6479899 |
427 | I>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA233603393 rs201855039 |
427 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs753302434 CA6479898 |
430 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA6479897 rs765374211 |
430 | R>I | No |
ClinGen ExAC |
|
|
CA384128565 rs1017524546 |
431 | A>D | No |
ClinGen TOPMed |
|
|
rs1017524546 CA233603360 |
431 | A>G | No |
ClinGen TOPMed |
|
|
rs755067235 CA6479896 |
431 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA233603358 rs868583576 |
432 | I>V | No |
ClinGen gnomAD |
|
|
rs1298687484 CA384128493 |
435 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs766645478 CA6479894 |
436 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs1375955396 CA384128157 |
437 | R>Q | No |
ClinGen TOPMed |
|
|
CA233602683 rs893029436 |
439 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1196487505 CA384128000 |
441 | P>H | No |
ClinGen gnomAD |
|
|
CA6479867 rs774968202 |
441 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA6479866 rs769232093 |
442 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs759192462 CA384127927 |
444 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6479865 rs759192462 |
444 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA233602585 COSM3670114 rs121918425 |
446 | H>N | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA6479861 rs769277126 |
448 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs749863926 CA6479860 |
449 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA233602560 rs377706682 |
449 | I>V | No |
ClinGen ESP |
|
|
CA6479859 rs780151467 |
452 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 452 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6479858 rs756108445 |
453 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs750540143 CA384127649 |
454 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6479857 rs750540143 |
454 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1322599 CA384127599 rs1430038707 |
455 | P>A | ovary Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs1319339393 CA384127579 |
455 | P>L | No |
ClinGen gnomAD |
|
|
rs1319339393 CA384127583 |
455 | P>R | No |
ClinGen gnomAD |
|
|
rs1335303493 CA384127566 |
456 | I>T | No |
ClinGen TOPMed |
|
|
CA6479855 rs757473343 |
458 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA6479854 rs751350800 |
458 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384127477 rs1477610964 |
460 | I>V | No |
ClinGen gnomAD |
|
|
rs1040299197 CA233602484 |
462 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs374490374 CA6479852 |
463 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 464 | G>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs370152970 CA6479850 |
466 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA233602453 rs377081650 |
467 | N>K | No |
ClinGen ESP TOPMed |
|
|
rs1051057918 CA233602454 |
467 | N>S | No |
ClinGen Ensembl |
|
|
CA233602438 rs991088508 |
468 | N>S | No |
ClinGen TOPMed |
|
|
rs765248902 CA6479849 |
469 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs139031614 CA6479848 |
469 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA384127257 rs1565598126 |
470 | T>P | No |
ClinGen Ensembl |
|
|
CA384127205 rs1287028288 |
472 | R>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs886049156 CA6479846 |
473 | V>D | No |
ClinGen Ensembl |
|
|
rs1275054617 CA384127145 |
474 | K>E | No |
ClinGen gnomAD |
|
|
rs776212092 CA6479845 |
474 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs767304642 CA6479820 |
475 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA324545 RCV000199996 rs863224039 |
476 | I>N | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA384122817 rs863224039 |
476 | I>T | No |
ClinGen gnomAD |
|
|
rs1311459777 CA384122801 |
477 | L>S | No |
ClinGen TOPMed |
|
|
rs763173209 CA6479819 |
478 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6479815 rs771038488 |
485 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1455313965 CA384122636 |
486 | S>G | No |
ClinGen TOPMed |
|
|
rs777922242 CA6479813 |
486 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA233583628 rs374053036 |
490 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA6479812 rs374053036 |
490 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs121918422 CA384122522 |
491 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6479810 rs753854327 COSM692800 |
492 | D>H | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
RCV000479840 CA16619499 rs1064793142 |
492 | D>V | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
rs866977819 CA233583590 |
494 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA6479807 rs369595121 |
495 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6479805 rs761590461 |
498 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs775701488 CA6479804 |
501 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA384122124 rs1167796690 |
502 | L>V | No |
ClinGen gnomAD |
|
|
CA6479803 rs765678941 |
503 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA384122038 rs1398157218 |
504 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA6479801 rs267603421 |
506 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs267603421 CA233583549 |
506 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA384121895 rs1481378197 |
507 | S>L | No |
ClinGen gnomAD |
|
|
CA233583535 rs995520226 |
507 | S>P | No |
ClinGen Ensembl |
|
|
rs1064793143 RCV000482018 CA16619498 |
508 | Y>D | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1244682013 CA384121829 |
509 | Y>H | No |
ClinGen gnomAD |
|
|
rs771449145 CA6479800 |
512 | W>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 515 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1297801719 CA384121459 |
516 | P>L | No |
ClinGen gnomAD |
|
|
CA6479798 rs199936257 |
517 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 519 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1565591997 CA384119989 |
520 | T>S | No |
ClinGen Ensembl |
|
|
rs530635847 CA6479769 |
522 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA384119891 rs754196109 |
523 | G>C | No |
ClinGen ExAC gnomAD |
|
|
rs1482253104 CA384119882 |
523 | G>D | No |
ClinGen gnomAD |
|
|
CA6479768 rs754196109 |
523 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs760859280 CA6479766 |
526 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384119728 rs760859280 |
526 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6479765 rs750890515 |
526 | S>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 526 | S>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs767931998 CA6479763 |
529 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs774303879 CA6479761 |
530 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs151300918 CA6479760 |
531 | L>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
CA6479758 rs201650590 |
533 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA384119443 rs1455412466 |
536 | C>* | No |
ClinGen TOPMed |
|
|
CA6479757 rs769747169 |
538 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6479756 rs745684908 |
538 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs750248307 CA6479754 |
540 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs143894309 CA6479755 |
540 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6479751 rs532771906 |
541 | H>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA384119282 rs1395335198 |
542 | V>M | No |
ClinGen TOPMed |
|
|
CA6479750 rs747839076 |
544 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs1259847498 CA384119162 |
547 | A>D | No |
ClinGen gnomAD |
|
|
CA6479748 rs143199072 |
549 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs186184722 RCV000197724 CA322185 |
553 | V>I | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
CA384117936 rs1317386467 |
555 | R>G | No |
ClinGen TOPMed |
|
|
CA233579269 rs904230994 |
555 | R>S | No |
ClinGen TOPMed |
|
|
CA6479728 rs376869969 |
556 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA233579260 rs958670031 |
556 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs373682083 CA6479726 |
558 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA233579229 rs772472195 |
560 | P>L | No |
ClinGen gnomAD |
|
|
CA6479725 rs764689095 |
562 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs945640449 CA233579210 |
563 | S>Y | No |
ClinGen TOPMed |
|
|
rs540215492 CA322649 |
564 | C>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6479724 rs752836596 |
564 | C>W | No |
ClinGen ExAC gnomAD |
|
|
rs1230563687 CA384117686 |
565 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA6479722 rs759902590 |
566 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA384117646 rs1343453824 |
566 | Q>H | No |
ClinGen TOPMed |
|
|
CA384117625 rs1362901168 |
568 | T>P | No |
ClinGen gnomAD |
|
|
rs1056696024 CA233579175 |
570 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1565591056 CA384117538 |
571 | L>P | No |
ClinGen Ensembl |
|
|
CA6479716 rs772011293 |
572 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs909908900 CA233579125 |
577 | Q>* | No |
ClinGen TOPMed |
|
|
CA384117397 rs1156942934 |
577 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1246706949 CA384117384 |
578 | S>T | No |
ClinGen gnomAD |
|
|
rs138595701 CA6479713 |
579 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6479712 rs768287810 COSM183040 |
579 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA6479711 rs748945649 |
580 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs762150312 CA6479709 COSM937960 |
580 | R>H | ovary Variant assessed as Somatic; 0.0 impact. endometrium breast [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs762150312 CA6479710 |
580 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384117345 rs748945649 |
580 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6479708 rs747418316 |
581 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1235818842 CA384117269 |
583 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA6479706 rs376892583 |
584 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs752819982 CA6479705 |
585 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384117208 rs1030009356 CA233579045 |
587 | N>K | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 588 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1565591006 CA384117199 |
588 | R>T | No |
ClinGen Ensembl |
|
|
rs1198883204 CA384117156 |
591 | R>K | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 591 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA384117136 rs1441175576 |
593 | S>P | No |
ClinGen TOPMed |
|
|
rs1277627398 CA384117108 |
595 | L>I | No |
ClinGen TOPMed |
|
| TCGA novel | 595 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA325302 rs750238325 RCV000200722 |
597 | D>N | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs1373083624 CA384117065 |
598 | W>S | No |
ClinGen TOPMed |
|
|
rs545600909 CA6479698 |
601 | L>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 601 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA384116736 rs751455210 |
610 | H>P | No |
ClinGen ExAC gnomAD |
|
|
rs764112151 CA6479675 |
610 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA384116741 rs1190526776 |
610 | H>Y | No |
ClinGen gnomAD |
|
|
rs1439095299 CA384116723 |
611 | L>R | No |
ClinGen gnomAD |
|
|
CA384116707 rs1281130207 |
612 | T>I | No |
ClinGen TOPMed |
|
|
rs988648352 CA233578149 |
616 | A>D | No |
ClinGen TOPMed |
|
|
CA384116640 rs988648352 |
616 | A>V | No |
ClinGen TOPMed |
|
| TCGA novel | 618 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs372925801 CA6479673 |
622 | H>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6479672 rs372925801 |
622 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA384116524 rs1294837658 |
623 | V>M | No |
ClinGen gnomAD |
|
|
CA6479670 rs773688188 |
624 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs562406869 CA6479669 |
625 | L>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs147224434 CA233576622 |
631 | T>R | No |
ClinGen ESP gnomAD |
|
|
CA384115839 rs1160294153 |
634 | F>L | No |
ClinGen gnomAD |
|
|
rs1555152821 CA384115776 |
637 | P>L | No |
ClinGen Ensembl |
|
|
rs367881123 CA6479645 |
642 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA384115676 rs1485503615 |
644 | P>T | No |
ClinGen gnomAD |
|
|
CA384115656 rs1230733508 |
646 | P>S | No |
ClinGen gnomAD |
|
|
rs1242424172 CA384115637 |
647 | S>L | No |
ClinGen gnomAD |
|
|
rs867633918 CA233576569 |
650 | Q>* | No |
ClinGen Ensembl |
|
|
rs1217746884 CA384115568 |
650 | Q>R | No |
ClinGen gnomAD |
|
|
rs769880416 CA6479643 |
652 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA384115494 rs1278504577 |
653 | S>R | No |
ClinGen gnomAD |
|
|
CA6479642 rs745966532 |
654 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1305760490 CA384115419 |
656 | S>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs757471144 COSM1253933 CA6479641 |
656 | S>R | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA384115383 rs1361888174 |
657 | S>N | No |
ClinGen gnomAD |
|
|
rs1461271512 CA384115345 |
658 | D>V | No |
ClinGen TOPMed |
|
| TCGA novel | 659 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs746798954 CA6479640 |
659 | V>M | No |
ClinGen ExAC |
|
| TCGA novel | 661 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1240134073 CA384115268 |
663 | V>A | No |
ClinGen TOPMed |
|
|
rs1440504277 CA384115221 |
666 | E>D | No |
ClinGen TOPMed |
|
|
rs777679820 CA6479638 |
666 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs571493564 CA384115193 |
668 | Y>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6479637 rs758245117 |
668 | Y>D | No |
ClinGen ExAC gnomAD |
|
|
rs758245117 CA384115202 |
668 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA384115178 rs1360740151 |
669 | D>G | No |
ClinGen gnomAD |
|
|
rs142656537 CA6479635 |
669 | D>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6479632 rs374040928 |
670 | E>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs766126638 CA6479633 |
670 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA384115135 rs1262420241 |
671 | E>G | No |
ClinGen gnomAD |
|
| TCGA novel | 672 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA233576455 rs917926356 |
672 | E>V | No |
ClinGen Ensembl |
|
|
rs774560492 CA6479631 |
674 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764561518 CA6479630 |
676 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763262746 CA6479629 |
677 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs114025396 CA6479628 |
678 | R>Q | Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs908505998 CA233576432 COSM1705300 |
678 | R>W | Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs776756657 CA6479625 |
684 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201063818 CA233576403 |
685 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA6479622 rs377417090 |
687 | L>Q | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
| TCGA novel | 689 | H>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA384114251 rs1172385108 |
690 | V>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA384114253 rs1172385108 |
690 | V>D | No |
ClinGen TOPMed gnomAD |
|
|
rs148461282 CA6479620 |
690 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1475651736 CA384114211 |
693 | G>E | No |
ClinGen gnomAD |
|
|
rs750056656 CA6479616 |
693 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA6479615 rs767101701 |
696 | K>Q | No |
ClinGen ExAC |
|
|
CA384114181 rs1258615047 |
696 | K>R | No |
ClinGen gnomAD |
|
| TCGA novel | 697 | L>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763316421 CA6479614 |
699 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA384114121 rs1480378788 |
700 | E>A | No |
ClinGen gnomAD |
|
|
rs765726821 COSM183038 CA6479612 |
701 | Y>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
| TCGA novel | 701 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1333348986 CA384114083 |
702 | K>E | No |
ClinGen gnomAD |
|
|
rs1293044624 CA384114046 |
703 | N>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA384114030 rs1482823914 |
704 | N>G | No |
ClinGen TOPMed gnomAD |
1 associated diseases with P54840
[MIM: 240600]: Glycogen storage disease 0 (GSD0)
A metabolic disorder characterized by fasting hypoglycemia presenting in infancy or early childhood, high blood ketones and low alanine and lactate concentrations. Although feeding relieves symptoms, it often results in postprandial hyperglycemia and hyperlactatemia. {ECO:0000269|PubMed:9691087}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A metabolic disorder characterized by fasting hypoglycemia presenting in infancy or early childhood, high blood ketones and low alanine and lactate concentrations. Although feeding relieves symptoms, it often results in postprandial hyperglycemia and hyperlactatemia. {ECO:0000269|PubMed:9691087}. Note=The disease is caused by variants affecting the gene represented in this entry.
No regional properties for P54840
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for P54840 | |||
Functions
| Description | ||
|---|---|---|
| EC Number | 2.4.1.11 | Hexosyltransferases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
6 GO annotations of cellular component
| Name | Definition |
|---|---|
| cell cortex | The region of a cell that lies just beneath the plasma membrane and often, but not always, contains a network of actin filaments and associated proteins. |
| cortical actin cytoskeleton | The portion of the actin cytoskeleton, comprising filamentous actin and associated proteins, that lies just beneath the plasma membrane. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytoskeleton | A cellular structure that forms the internal framework of eukaryotic and prokaryotic cells. The cytoskeleton includes intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| ectoplasm | Granule free cytoplasm, lying immediately below the plasma membrane. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| glycogen (starch) synthase activity | Catalysis of the reaction: UDP-glucose + (1,4)-alpha-D-glucosyl(n) = UDP + (1,4)-alpha-D-glucosyl(n+1). |
| glycogen synthase activity, transferring glucose-1-phosphate | Catalysis of the reaction: UDP-glucose + (1,4)-alpha-D-glucosyl(n) = UMP + (1,4)-alpha-D-glucosyl(n)-glucose-1-phosphate. |
3 GO annotations of biological process
| Name | Definition |
|---|---|
| generation of precursor metabolites and energy | The chemical reactions and pathways resulting in the formation of precursor metabolites, substances from which energy is derived, and any process involved in the liberation of energy from these substances. |
| glycogen biosynthetic process | The chemical reactions and pathways resulting in the formation of glycogen, a polydisperse, highly branched glucan composed of chains of D-glucose residues. |
| response to glucose | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a glucose stimulus. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MLRGRSLSVT | SLGGLPQWEV | EELPVEELLL | FEVAWEVTNK | VGGIYTVIQT | KAKTTADEWG |
| 70 | 80 | 90 | 100 | 110 | 120 |
| ENYFLIGPYF | EHNMKTQVEQ | CEPVNDAVRR | AVDAMNKHGC | QVHFGRWLIE | GSPYVVLFDI |
| 130 | 140 | 150 | 160 | 170 | 180 |
| GYSAWNLDRW | KGDLWEACSV | GIPYHDREAN | DMLIFGSLTA | WFLKEVTDHA | DGKYVVAQFH |
| 190 | 200 | 210 | 220 | 230 | 240 |
| EWQAGIGLIL | SRARKLPIAT | IFTTHATLLG | RYLCAANIDF | YNHLDKFNID | KEAGERQIYH |
| 250 | 260 | 270 | 280 | 290 | 300 |
| RYCMERASVH | CAHVFTTVSE | ITAIEAEHML | KRKPDVVTPN | GLNVKKFSAV | HEFQNLHAMY |
| 310 | 320 | 330 | 340 | 350 | 360 |
| KARIQDFVRG | HFYGHLDFDL | EKTLFLFIAG | RYEFSNKGAD | IFLESLSRLN | FLLRMHKSDI |
| 370 | 380 | 390 | 400 | 410 | 420 |
| TVMVFFIMPA | KTNNFNVETL | KGQAVRKQLW | DVAHSVKEKF | GKKLYDALLR | GEIPDLNDIL |
| 430 | 440 | 450 | 460 | 470 | 480 |
| DRDDLTIMKR | AIFSTQRQSL | PPVTTHNMID | DSTDPILSTI | RRIGLFNNRT | DRVKVILHPE |
| 490 | 500 | 510 | 520 | 530 | 540 |
| FLSSTSPLLP | MDYEEFVRGC | HLGVFPSYYE | PWGYTPAECT | VMGIPSVTTN | LSGFGCFMQE |
| 550 | 560 | 570 | 580 | 590 | 600 |
| HVADPTAYGI | YIVDRRFRSP | DDSCNQLTKF | LYGFCKQSRR | QRIIQRNRTE | RLSDLLDWRY |
| 610 | 620 | 630 | 640 | 650 | 660 |
| LGRYYQHARH | LTLSRAFPDK | FHVELTSPPT | TEGFKYPRPS | SVPPSPSGSQ | ASSPQSSDVE |
| 670 | 680 | 690 | 700 | ||
| DEVEDERYDE | EEEAERDRLN | IKSPFSLSHV | PHGKKKLHGE | YKN |