P11216
PR
Gene name |
PYGB |
Protein name |
Glycogen phosphorylase, brain form |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:5834 |
EC number |
2.4.1.1: 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
3 structures for P11216
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 5IKO | X-ray | 250 A | A | 1-843 | PDB |
| 5IKP | X-ray | 340 A | A | 1-843 | PDB |
| AF-P11216-F1 | Predicted | AlphaFoldDB |
846 variants for P11216
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV000736182 CA9795503 COSM326289 RCV002533765 rs201805961 |
683 | M>V | lung Inborn genetic diseases [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA9794421 rs144506519 |
2 | A>T | No |
ClinGen ESP ExAC gnomAD |
|
|
rs942149325 CA408442911 |
4 | P>L | No |
ClinGen Ensembl |
|
|
rs942149325 CA313727405 |
4 | P>Q | No |
ClinGen Ensembl |
|
|
rs376948415 CA9794422 |
4 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA408442922 rs1270735767 |
6 | T>M | No |
ClinGen gnomAD |
|
|
CA9794425 rs778924522 |
7 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9794426 rs201023289 |
8 | S>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1479436324 CA408442933 |
8 | S>T | No |
ClinGen gnomAD |
|
|
CA408442941 rs1178800826 |
9 | E>G | No |
ClinGen gnomAD |
|
|
CA408442946 rs1408368580 |
10 | K>E | No |
ClinGen gnomAD |
|
|
CA408442953 rs1162649804 |
11 | R>G | No |
ClinGen gnomAD |
|
|
CA408442956 rs1420141042 |
11 | R>P | No |
ClinGen gnomAD |
|
|
CA408442990 rs1159315117 |
16 | V>L | No |
ClinGen TOPMed |
|
|
rs200796343 CA9794431 |
17 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776497847 CA313727489 |
19 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1413508026 CA408443014 |
20 | A>G | No |
ClinGen gnomAD |
|
|
CA313727518 rs201801746 |
21 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA9794438 rs200827384 |
23 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA313727562 rs761543358 |
24 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9794439 rs761543358 |
24 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408443038 rs1405650519 |
25 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1185498235 CA408443051 |
27 | E>Q | No |
ClinGen gnomAD |
|
|
CA9794440 rs766607816 |
29 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA9794441 rs754264308 |
29 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs200154564 TCGA novel CA408443066 |
30 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen ESP ExAC TOPMed gnomAD |
|
CA9794442 rs200154564 |
30 | K>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9794443 rs765782345 |
33 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408443100 rs1171350557 |
34 | R>L | No |
ClinGen gnomAD |
|
|
rs1171350557 CA408443098 |
34 | R>Q | No |
ClinGen gnomAD |
|
|
rs1411875243 CA408443097 |
34 | R>W | No |
ClinGen gnomAD |
|
|
rs1398600686 CA408443112 |
36 | L>S | No |
ClinGen TOPMed |
|
|
CA408443116 rs758543025 |
37 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9794445 rs758543025 |
37 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368166226 CA313727595 |
38 | F>L | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1315142552 CA408443127 |
38 | F>S | No |
ClinGen gnomAD |
|
|
rs1430627054 CA408443140 |
40 | L>P | No |
ClinGen gnomAD |
|
|
rs1430627054 CA408443138 |
40 | L>Q | No |
ClinGen gnomAD |
|
|
CA9794446 rs777832234 |
41 | V>G | No |
ClinGen ExAC |
|
|
rs751673321 CA9794447 |
44 | R>G | No |
ClinGen ExAC |
|
|
CA408443164 rs1269082189 |
44 | R>H | No |
ClinGen gnomAD |
|
|
CA313727613 rs957796216 |
45 | N>D | No |
ClinGen Ensembl |
|
|
CA408443185 rs1568679316 |
47 | A>V | No |
ClinGen Ensembl |
|
|
rs757520953 CA9794448 |
48 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs780809195 CA9794449 |
49 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA408443193 rs1178380080 |
49 | P>S | No |
ClinGen TOPMed |
|
|
rs769828709 CA313727664 |
51 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408443204 rs1568679330 |
51 | D>Y | No |
ClinGen Ensembl |
|
|
COSM3963417 CA9794454 rs749245048 |
52 | Y>C | lung [Cosmic] | No |
ClinGen cosmic curated ExAC |
|
rs780195100 CA9794452 |
52 | Y>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1192301872 CA408443216 |
53 | F>L | No |
ClinGen gnomAD |
|
|
CA9794455 rs768227063 |
53 | F>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408443227 rs1322421498 |
54 | F>C | No |
ClinGen gnomAD |
|
|
CA9794456 rs773938519 |
54 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA408443224 rs1187164732 |
54 | F>L | No |
ClinGen gnomAD |
|
|
CA9794457 rs146966138 RCV000891422 |
57 | A>G | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs201771509 CA9794459 |
58 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA408443255 rs377078051 |
59 | T>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9794460 rs377078051 |
59 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs765731025 CA9794461 |
60 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA9794464 rs764030121 |
61 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA408443270 rs1305367223 |
62 | D>A | No |
ClinGen gnomAD |
|
|
rs903174925 CA408443281 |
63 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs144954599 CA313727775 |
63 | H>R | No |
ClinGen ESP gnomAD |
|
|
CA408443276 rs1345409795 |
63 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA313727785 rs976729518 |
64 | L>H | No |
ClinGen gnomAD |
|
|
rs1448631377 CA408443283 |
64 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA9794466 rs757386326 |
65 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs750167591 CA9794468 |
66 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA313727817 rs868113937 |
67 | R>H | No |
ClinGen gnomAD |
|
|
CA408443301 rs868113937 |
67 | R>L | No |
ClinGen gnomAD |
|
|
CA313727821 rs923260002 |
68 | W>R | No |
ClinGen Ensembl |
|
|
rs1401779315 CA408443315 |
69 | I>S | No |
ClinGen gnomAD |
|
|
rs1410884582 CA408443311 |
69 | I>V | No |
ClinGen gnomAD |
|
|
CA9794469 rs202245037 |
70 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs1438304347 CA408443319 |
70 | R>H | No |
ClinGen gnomAD |
|
|
rs780011017 CA9794470 |
71 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9794472 rs768749787 |
72 | Q>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1399374107 CA408443349 |
74 | H>Q | No |
ClinGen TOPMed |
|
|
rs1352822862 CA408443346 |
74 | H>R | No |
ClinGen gnomAD |
|
|
CA408443354 rs1228872347 |
75 | Y>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA9794473 rs778260504 |
77 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408443366 rs778260504 |
77 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408443374 rs747744133 |
78 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA9794476 rs747744133 |
78 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA9794478 rs772985770 |
79 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1437454712 CA408443380 |
79 | D>N | No |
ClinGen gnomAD |
|
|
CA9794480 rs746670423 |
80 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA408443393 rs1019635973 |
80 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA313727872 rs1019635973 |
80 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs746670423 CA9794479 |
80 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA9794482 rs763409498 |
81 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA9794503 rs201508171 |
82 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1050535872 CA313671500 COSM1681575 |
82 | R>H | Variant assessed as Somatic; 0.0 impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs1278616856 CA408444554 |
83 | I>V | No |
ClinGen gnomAD |
|
|
rs1486948538 CA408444569 |
85 | Y>H | No |
ClinGen gnomAD |
|
|
CA313671512 rs542181256 |
86 | L>F | No |
ClinGen TOPMed |
|
|
CA9794504 rs767587503 |
87 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA408444588 rs1291791002 |
88 | L>P | No |
ClinGen gnomAD |
|
|
CA9794505 rs773459553 |
88 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA9794506 rs760952897 |
89 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA313671526 rs760952897 |
89 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199834236 CA9794507 |
90 | F>V | No |
ClinGen ExAC gnomAD |
|
|
rs552689976 CA9794508 |
92 | M>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM183909 CA9794509 rs200651502 |
94 | R>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA9794510 rs200651502 |
94 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA313671545 rs769655708 COSM1410861 |
94 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs769655708 CA408444627 |
94 | R>L | No |
ClinGen gnomAD |
|
|
rs370514593 CA9794512 |
95 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 97 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9794515 rs200674262 |
99 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA9794517 rs749647011 |
100 | M>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 101 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9794518 rs768996439 |
102 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA9794520 rs748650273 |
102 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA9794519 rs779156552 |
102 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA9794521 rs772497104 |
103 | L>M | No |
ClinGen ExAC |
|
|
CA408444678 rs772497104 |
103 | L>V | No |
ClinGen ExAC |
|
|
CA9794522 rs773404185 |
104 | G>D | No |
ClinGen ExAC gnomAD |
|
|
COSM1410862 CA313671580 rs201324493 |
105 | L>F | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA9794526 rs558111607 |
110 | D>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9794525 rs201218690 |
110 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA9794527 rs558111607 |
110 | D>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1192570994 CA408444729 |
111 | E>* | No |
ClinGen gnomAD |
|
|
CA9794528 rs752462993 |
113 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1434741361 CA408444751 |
114 | Y>C | No |
ClinGen gnomAD |
|
|
CA408445415 rs1156343634 |
117 | G>R | No |
ClinGen TOPMed |
|
|
rs150302624 CA9794550 |
119 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1399421842 CA408445432 |
119 | D>G | No |
ClinGen TOPMed |
|
|
CA408445444 rs1160287058 |
121 | E>K | No |
ClinGen TOPMed |
|
|
rs199663078 CA313677346 |
122 | E>K | No |
ClinGen gnomAD |
|
|
CA9794554 rs755769724 |
124 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA9794553 rs749943157 |
124 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA313677364 rs889085835 |
125 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs779631204 CA9794555 |
125 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA408445480 rs753105303 |
126 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA313677368 rs986067299 |
126 | I>V | No |
ClinGen Ensembl |
|
|
CA313677397 rs911201013 |
128 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1315218933 CA408445500 |
129 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA9794559 rs778298658 |
131 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1221762853 CA408445516 |
132 | L>F | No |
ClinGen gnomAD |
|
|
rs201755872 CA9794561 |
136 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408445568 rs1252531440 |
141 | A>T | No |
ClinGen gnomAD |
|
|
rs1445655615 CA408445680 |
142 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs867205977 CA313679262 |
144 | F>L | No |
ClinGen Ensembl |
|
|
rs200320241 CA9794593 |
145 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9794594 rs773439527 |
145 | L>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA9794595 COSM443569 rs751955480 |
147 | S>L | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
COSM1483506 rs767929147 CA9794597 |
148 | M>I | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs199896643 CA408445748 |
148 | M>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9794596 rs199896643 |
148 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs750836489 CA9794598 |
150 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756666114 CA9794599 |
150 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA408445772 rs750836489 |
150 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9794601 rs753970590 |
152 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408445796 rs753970590 |
152 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs971058956 CA313679303 |
155 | A>S | No |
ClinGen TOPMed |
|
|
CA9794605 rs771711084 |
156 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
rs746883478 CA9794607 |
157 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA313679313 rs766767507 |
158 | Y>* | No |
ClinGen gnomAD |
|
|
CA9794608 rs199740965 |
158 | Y>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200566506 CA313679322 |
161 | R>C | No |
ClinGen gnomAD |
|
|
CA313679323 COSM1263626 rs200962414 |
161 | R>H | oesophagus [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs776256581 CA9794609 |
162 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA313679327 rs775680761 |
162 | Y>H | No |
ClinGen gnomAD |
|
|
CA9794610 rs759171481 |
164 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408445965 rs1568689254 |
165 | G>V | No |
ClinGen Ensembl |
|
|
rs775212865 CA9794612 |
167 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1252654571 CA408446020 |
169 | Q>R | No |
ClinGen gnomAD |
|
|
rs1201479000 CA408446039 |
170 | K>N | No |
ClinGen gnomAD |
|
|
rs750829480 CA9794615 |
171 | I>S | No |
ClinGen ExAC gnomAD |
|
|
rs750829480 CA9794616 |
171 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs372444560 CA9794617 |
172 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9794620 rs201206079 |
173 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 174 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs758680406 CA9794622 |
174 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs777402342 CA9794624 |
176 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs200539270 CA9794645 |
178 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1187995754 CA408446332 |
179 | E>K | No |
ClinGen Ensembl |
|
|
CA9794649 rs200000139 |
181 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408446381 rs1203521572 |
182 | D>G | No |
ClinGen gnomAD |
|
|
COSM1025329 rs201326100 CA9794650 |
185 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA9794651 rs747769681 |
185 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs202169415 CA313683682 |
186 | Y>C | No |
ClinGen Ensembl |
|
|
CA9794654 rs200865925 |
187 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765785979 CA9794655 |
188 | N>I | No |
ClinGen ExAC gnomAD |
|
|
CA9794656 rs775415698 |
189 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA9794657 rs763157593 |
190 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA408446499 rs757574513 |
194 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757574513 CA9794660 |
194 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1312246757 CA408446497 COSM3404984 |
194 | R>W | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA313683780 rs6037077 |
195 | P>L | No |
ClinGen Ensembl |
|
| TCGA novel | 196 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs750281024 CA9794662 |
198 | M>K | No |
ClinGen ExAC gnomAD |
|
|
CA9794661 rs767380552 |
198 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA9794664 rs377289028 |
200 | P>A | No |
ClinGen ESP ExAC gnomAD |
|
|
CA408446537 rs367624177 |
200 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs367624177 CA9794665 |
200 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA408446540 rs1233993347 |
201 | V>M | No |
ClinGen gnomAD |
|
| TCGA novel | 202 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs201048394 CA9794667 |
204 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs202182185 CA9794669 |
205 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs73341199 COSM1734053 CA9794670 |
206 | R>C | pancreas [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA9794671 rs776961572 |
206 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201689841 CA9794673 |
207 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA313683841 rs201689841 |
207 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1175085603 COSM1025330 CA408446587 |
208 | E>D | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA408446589 rs1375915778 |
209 | H>D | No |
ClinGen gnomAD |
|
|
CA408446592 rs1467467978 |
209 | H>R | No |
ClinGen gnomAD |
|
|
rs1375915778 CA408446590 |
209 | H>Y | No |
ClinGen gnomAD |
|
|
rs910516861 CA313683842 |
210 | T>I | No |
ClinGen TOPMed |
|
|
rs910516861 CA408446600 |
210 | T>N | No |
ClinGen TOPMed |
|
|
rs1600730478 CA408446596 |
210 | T>P | No |
ClinGen Ensembl |
|
|
CA9794675 rs763380139 |
212 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9794677 COSM1025332 rs200712486 |
213 | G>S | endometrium [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA9794678 rs762096129 |
213 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408446622 rs1256096350 |
214 | V>A | No |
ClinGen gnomAD |
|
|
rs373504384 CA313683858 |
214 | V>M | No |
ClinGen ESP gnomAD |
|
|
CA313683864 rs974580536 |
215 | K>R | No |
ClinGen Ensembl |
|
|
CA408446637 CA9794680 rs750227993 |
216 | W>C | No |
ClinGen ExAC gnomAD |
|
|
CA408446647 rs1600730518 |
218 | D>G | No |
ClinGen Ensembl |
|
|
CA313685799 rs1044877109 |
221 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA408446681 rs1044877109 |
221 | V>G | No |
ClinGen TOPMed gnomAD |
|
|
CA408446677 rs1273586068 |
221 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1482036744 CA408446687 |
222 | V>A | No |
ClinGen gnomAD |
|
|
CA9794711 rs113035723 |
224 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9794712 rs372633367 |
224 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA408446715 rs1568691300 |
227 | Y>C | No |
ClinGen Ensembl |
|
|
CA408446712 rs1449768538 |
227 | Y>D | No |
ClinGen TOPMed |
|
|
CA408446724 rs1425042635 |
228 | D>G | No |
ClinGen TOPMed |
|
|
rs1181146898 CA408446720 |
228 | D>N | No |
ClinGen TOPMed |
|
| TCGA novel | 230 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs200262215 CA9794715 |
233 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9794717 rs377097795 |
234 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA408446765 rs1600731732 |
235 | K>E | No |
ClinGen Ensembl |
|
|
rs1207550218 CA408446777 |
236 | N>I | No |
ClinGen TOPMed |
|
|
rs200036828 CA408446780 |
236 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs202165304 CA9794721 |
238 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA9794723 rs532747607 |
239 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA313685899 rs201418089 |
242 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA408446821 rs202219219 |
243 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs763552536 CA408446822 |
243 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763552536 CA9794725 |
243 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs202219219 CA313685904 |
243 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA408446824 rs1161124784 |
244 | L>V | No |
ClinGen TOPMed |
|
|
CA313685937 rs200175446 |
245 | W>G | No |
ClinGen TOPMed gnomAD |
|
|
rs200175446 CA408446829 |
245 | W>R | No |
ClinGen TOPMed gnomAD |
|
|
CA408446839 rs1600731782 |
246 | S>A | No |
ClinGen Ensembl |
|
|
rs200914374 CA9794729 |
247 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200914374 CA9794730 |
247 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9794731 rs779442310 |
248 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA9794732 rs201237211 |
249 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201237211 CA408446854 |
249 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1451766565 CA408446868 |
251 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs199605983 CA9794734 |
252 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs771184402 CA9794736 |
254 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1208336244 CA408446904 |
256 | Q>R | No |
ClinGen TOPMed |
|
|
rs1600731817 CA408446918 |
257 | D>G | No |
ClinGen Ensembl |
|
|
rs1358520319 CA408446911 |
257 | D>Y | No |
ClinGen TOPMed |
|
|
CA408446927 rs1568691405 |
258 | F>I | No |
ClinGen Ensembl |
|
|
rs938349845 CA313686550 |
259 | N>H | No |
ClinGen TOPMed |
|
|
rs768576587 CA9794761 |
259 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA9794764 rs771443399 |
260 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs150817672 CA9794763 |
260 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1158836631 CA408447050 |
261 | G>R | No |
ClinGen gnomAD |
|
|
CA9794765 rs139308858 |
263 | Y>C | No |
ClinGen ESP ExAC |
|
|
rs1389526726 CA408447079 |
263 | Y>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1403463758 CA408447091 |
264 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1403463758 CA408447093 |
264 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA9794767 rs371683304 |
265 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs962209297 CA313686629 |
266 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA9794770 rs764570826 |
267 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1283868715 CA408447158 |
269 | D>H | No |
ClinGen gnomAD |
|
|
rs750562466 CA9794774 COSM1681577 |
270 | R>Q | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA9794773 rs149578335 |
270 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 273 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA408447190 rs1568691732 |
273 | A>V | No |
ClinGen Ensembl |
|
|
rs1600732238 CA408447193 |
274 | E>K | No |
ClinGen Ensembl |
|
|
rs1298483760 CA408447221 |
278 | R>G | No |
ClinGen gnomAD |
|
|
CA9794777 rs144081143 |
278 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1431261766 CA408447228 |
279 | V>F | No |
ClinGen TOPMed |
|
|
CA408447257 rs1448321009 COSM1681578 |
283 | N>K | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed |
| rs367923761 | 285 | N>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9794779 rs768381953 |
285 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA9794781 rs367923761 |
285 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 286 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA408447509 rs1568692275 |
287 | F>S | No |
ClinGen Ensembl |
|
|
CA408447525 rs1464114142 |
289 | G>E | No |
ClinGen gnomAD |
|
| TCGA novel | 290 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA408447544 rs1263532972 |
292 | L>M | No |
ClinGen gnomAD |
|
|
rs765563930 CA9794833 |
292 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA9794835 rs200576670 |
293 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA313687872 rs199624283 |
293 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs758157831 CA9794836 |
296 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs760902446 CA9794834 |
296 | Q>G | No |
ClinGen ExAC TOPMed |
|
|
rs1388197896 CA408447566 |
296 | Q>P | No |
ClinGen gnomAD |
|
|
CA408447580 rs1600732962 |
298 | Y>D | No |
ClinGen Ensembl |
|
|
CA9794838 rs777454522 |
299 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs140503692 CA9794839 |
300 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1299872038 CA408447610 |
302 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs2228976 CA9794841 VAR_034428 |
303 | A>S | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA9794842 rs2228976 |
303 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9794843 rs775140518 |
303 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs997828104 CA313687970 |
304 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1262097408 CA408447621 |
305 | L>F | No |
ClinGen gnomAD |
|
|
rs772433213 CA9794845 |
305 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA408447627 rs1209015559 |
306 | Q>P | No |
ClinGen gnomAD |
|
|
rs1209015559 CA408447628 |
306 | Q>R | No |
ClinGen gnomAD |
|
|
rs889522082 CA313688002 |
307 | D>V | No |
ClinGen Ensembl |
|
|
CA408447643 rs1265252153 |
308 | I>T | No |
ClinGen gnomAD |
|
|
rs1600733003 CA408447650 |
309 | I>T | No |
ClinGen Ensembl |
|
|
CA9794846 rs773607885 |
310 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA9794847 rs761148570 |
310 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA408447653 rs773607885 |
310 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA9794848 rs202079661 |
311 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA9794849 rs199907983 |
311 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA313688054 rs1029706157 |
313 | K>Q | No |
ClinGen TOPMed |
|
|
rs200988568 CA313688080 |
313 | K>R | No |
ClinGen Ensembl |
|
|
CA9794851 rs202127045 |
314 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200427069 CA313688092 |
315 | S>F | No |
ClinGen TOPMed |
|
|
CA9794854 rs201092402 |
316 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs200456135 CA313688111 |
318 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA9794857 rs369254260 |
320 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA9794856 rs757243502 |
320 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750389028 CA9794858 |
322 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA9794859 rs755591592 |
322 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA313688137 rs796534139 |
323 | V>M | No |
ClinGen Ensembl |
|
|
CA9794861 rs748930331 |
326 | C>* | No |
ClinGen ExAC gnomAD |
|
|
rs139728214 CA9794862 |
327 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9794863 rs148995546 |
328 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs199872010 CA9794864 |
329 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9794865 rs528534058 |
329 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9794866 rs528534058 |
329 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408447777 rs1409067299 |
330 | F>L | No |
ClinGen gnomAD |
|
|
CA408447782 rs1423410585 |
331 | P>L | No |
ClinGen gnomAD |
|
|
CA9794868 rs769880556 |
332 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA408447819 rs1343262215 |
335 | A>V | No |
ClinGen gnomAD |
|
|
rs74852020 CA313688876 |
336 | I>T | No |
ClinGen TOPMed |
|
|
rs1169648366 CA408447821 |
336 | I>V | No |
ClinGen gnomAD |
|
|
CA9794903 rs780355408 |
337 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA408447831 rs1476619585 CA408447832 |
337 | Q>H | No |
ClinGen TOPMed |
|
|
CA313688899 rs898152585 |
340 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1293378574 CA408447871 |
343 | P>R | No |
ClinGen TOPMed |
|
|
CA9794907 rs199970228 |
344 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1432167663 CA408447877 |
344 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA9794908 rs772481182 |
345 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773055392 CA408447884 |
346 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773055392 CA9794909 |
346 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9794910 rs760321972 |
348 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA408447906 rs1354437622 |
349 | E>D | No |
ClinGen TOPMed |
|
|
rs776385905 CA408447914 |
351 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA408447917 rs1196661973 |
351 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA9794912 rs776385905 |
351 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs150918465 CA9794913 |
352 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9794914 rs150918465 |
352 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs868361956 CA313688957 |
352 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA408447928 rs1264072783 |
353 | I>F | No |
ClinGen gnomAD |
|
|
CA9794916 rs758037680 |
355 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA408447972 rs763724703 |
356 | D>E | No |
ClinGen ExAC gnomAD |
|
|
COSM1025335 rs530589899 CA408447977 |
357 | V>L | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA9794918 rs530589899 |
357 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs780490937 CA9794920 |
363 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs202242753 CA9794921 |
364 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9794942 rs758359637 |
366 | W>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408448238 rs1401653322 |
367 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA9794943 rs113846848 |
369 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201517237 CA9794944 |
369 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed |
|
rs140780837 CA9794947 |
370 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| rs1568693291 | 371 | K>missing | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9794948 rs769585378 |
371 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9794949 rs775351268 |
372 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA9794951 rs200974648 |
373 | C>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200974648 CA9794950 |
373 | C>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA313690260 rs540251614 |
374 | A>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA9794952 rs540251614 |
374 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA313690281 rs1018746011 COSM3363170 |
375 | Y>H | kidney [Cosmic] | No |
ClinGen cosmic curated gnomAD |
| TCGA novel | 376 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759921033 CA9794956 |
377 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs199708204 CA9794955 |
377 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9794957 rs765717305 |
379 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA9794958 rs146619637 |
379 | T>S | No |
ClinGen ESP ExAC |
|
|
CA9794959 rs758982092 |
380 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs200756414 CA9794960 |
381 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA313690324 rs6115125 |
382 | P>L | No |
ClinGen Ensembl |
|
|
CA9794961 rs375208225 |
382 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs141342768 CA9794962 |
383 | E>G | No |
ClinGen ESP ExAC gnomAD |
|
|
CA408448324 rs1340010959 |
383 | E>K | No |
ClinGen TOPMed |
|
|
rs1397646911 CA408448349 |
386 | E>V | No |
ClinGen TOPMed |
|
|
rs746106483 CA9794964 |
387 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408448354 rs974654301 |
387 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA313690342 rs974654301 |
387 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA9794968 rs768689462 |
390 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761320427 CA9794970 |
392 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA408448412 rs1600734435 |
395 | K>N | No |
ClinGen Ensembl |
|
|
rs199885319 CA9794973 |
398 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA408448426 rs1475823381 |
398 | P>S | No |
ClinGen gnomAD |
|
|
rs1475823381 CA408448424 |
398 | P>T | No |
ClinGen gnomAD |
|
|
rs1347773805 CA635266926 |
399 | R>A | No |
ClinGen gnomAD |
|
|
CA313690409 rs200201053 |
399 | R>L | No |
ClinGen gnomAD |
|
|
CA408448430 rs200201053 |
399 | R>Q | No |
ClinGen gnomAD |
|
|
rs143938918 CA9794975 |
399 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA408448445 rs1388419022 |
402 | E>K | No |
ClinGen gnomAD |
|
|
CA9794976 rs763351855 |
404 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA9794977 rs764724034 |
405 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9794978 rs752015464 |
406 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs1227524732 CA408448485 |
408 | N>H | No |
ClinGen gnomAD |
|
|
CA9794980 rs767609032 |
410 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201857043 CA9794979 |
410 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA408448542 rs190796467 CA9795021 |
414 | H>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9795022 rs201813153 |
415 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA9795025 rs752489482 |
416 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758402880 CA9795026 |
416 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs143661747 CA9795028 |
417 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs200958021 CA9795029 |
417 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408448568 rs1425796042 |
419 | F>L | No |
ClinGen gnomAD |
|
|
rs202182105 CA313691057 |
420 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs141916716 CA9795032 |
421 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9795034 rs748581179 COSM1193624 |
422 | D>N | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs773659331 CA9795036 |
423 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA9795035 rs772431486 |
423 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs761201544 CA9795037 |
424 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9795038 rs771010540 |
425 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9795039 rs776622403 |
425 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA408448600 rs776622403 |
425 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759787640 CA9795040 |
427 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs202185585 CA9795041 |
427 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA408448610 rs1207849188 |
428 | R>G | No |
ClinGen gnomAD |
|
|
CA9795042 rs150635236 |
429 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA313691129 rs200199968 |
430 | S>F | No |
ClinGen Ensembl |
|
|
rs201366222 CA9795044 |
432 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs138863323 CA313691172 |
433 | E>K | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs199655911 CA9795047 |
434 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA408448696 rs1171823006 |
435 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA408448695 rs1171823006 |
435 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA408448706 rs1400591488 |
436 | D>G | No |
ClinGen gnomAD |
|
|
rs1468919209 CA408448743 |
438 | K>N | No |
ClinGen gnomAD |
|
|
rs780734083 CA9795048 |
439 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199663379 CA313691179 |
439 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs142812907 CA9795049 |
441 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA313691185 rs142812907 |
441 | N>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201302824 CA9795050 |
442 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs779506564 CA9795051 |
443 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA408448870 rs1600734966 |
448 | I>T | No |
ClinGen Ensembl |
|
|
rs867422126 CA313691205 |
450 | S>F | No |
ClinGen gnomAD |
|
|
rs867422126 CA408448894 |
450 | S>Y | No |
ClinGen gnomAD |
|
|
CA313691211 rs958804124 |
451 | H>Y | No |
ClinGen TOPMed |
|
|
rs926128809 CA313691218 |
452 | A>V | No |
ClinGen Ensembl |
|
|
CA313691235 rs200580052 |
453 | V>L | No |
ClinGen gnomAD |
|
|
CA408448939 rs1215516654 |
454 | N>D | No |
ClinGen gnomAD |
|
|
rs199856769 CA9795057 |
454 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1187787001 CA408448953 |
455 | G>S | No |
ClinGen gnomAD |
|
|
CA408448964 rs1423670983 |
456 | V>M | No |
ClinGen gnomAD |
|
|
rs200462235 CA9795059 COSM1410865 |
457 | A>V | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs769927203 CA9795061 |
458 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1414890622 CA408449018 |
460 | H>Y | No |
ClinGen gnomAD |
|
|
CA9795062 rs199996858 |
461 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA313691285 rs532644008 |
462 | E>D | No |
ClinGen TOPMed |
|
|
CA408449065 rs201316067 |
463 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779037307 CA313691307 |
463 | I>V | No |
ClinGen Ensembl |
|
|
CA9795065 rs201900026 |
464 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA313691345 rs868627892 |
467 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
rs780270911 CA9795101 |
471 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756697243 CA9795100 |
471 | D>G | No |
ClinGen ExAC |
|
|
CA313692401 rs201103083 |
471 | D>Y | No |
ClinGen Ensembl |
|
|
CA408449199 rs1381267703 |
473 | Y>* | No |
ClinGen gnomAD |
|
|
rs1248856100 CA408449223 |
477 | P>A | No |
ClinGen gnomAD |
|
|
rs768862543 CA9795103 |
479 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs147056289 CA313692428 COSM107059 |
480 | F>L | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA313692434 rs201063710 |
482 | N>S | No |
ClinGen Ensembl |
|
|
CA313692443 rs1029138057 |
484 | T>I | No |
ClinGen gnomAD |
|
|
rs1029138057 CA408449276 |
484 | T>N | No |
ClinGen gnomAD |
|
|
rs1600735819 CA408449273 |
484 | T>P | No |
ClinGen Ensembl |
|
|
CA408449277 rs1029138057 |
484 | T>S | No |
ClinGen gnomAD |
|
|
rs779222213 CA9795104 |
485 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA9795105 rs748425431 |
486 | G>C | No |
ClinGen ExAC |
|
|
CA408449288 rs1458776662 |
486 | G>V | No |
ClinGen gnomAD |
|
|
CA9795107 rs773108167 |
487 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs147397153 CA9795106 |
487 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs760514267 CA408449295 |
488 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760514267 CA9795108 |
488 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408449305 rs1189596954 |
489 | P>L | No |
ClinGen gnomAD |
|
|
rs139768078 CA9795112 |
490 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA313694093 rs1015805896 |
490 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA9795111 rs139768078 |
490 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs752248439 CA9795114 |
491 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA9795113 rs199738340 |
491 | R>W | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA313694095 rs199693040 |
492 | W>* | No |
ClinGen Ensembl |
|
|
rs527996982 CA9795115 |
494 | L>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1600735866 CA408449345 |
497 | N>T | No |
ClinGen Ensembl |
|
|
rs149946359 CA9795116 |
498 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA408449354 rs149946359 |
498 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA313694117 rs1024691280 |
499 | G>E | No |
ClinGen Ensembl |
|
|
rs1407923069 CA408449374 |
502 | D>G | No |
ClinGen Ensembl |
|
|
VAR_020212 rs2227891 CA9795120 |
502 | D>N | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs199559458 CA9795121 |
503 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1262097032 CA408449385 |
504 | I>V | No |
ClinGen gnomAD |
|
|
CA9795123 rs748295509 |
505 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760114974 CA9795157 |
507 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs199902111 CA9795158 |
508 | I>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1331989494 CA408449478 |
509 | G>W | No |
ClinGen TOPMed |
|
|
CA408449510 rs1257900610 |
511 | E>G | No |
ClinGen gnomAD |
|
|
CA9795159 rs199750042 |
513 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs199750042 CA313695014 |
513 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA408449542 rs79534510 |
514 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9795160 rs79534510 |
514 | T>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs950766936 CA408449549 |
515 | D>A | No |
ClinGen Ensembl |
|
|
rs1159978877 CA408449545 |
515 | D>H | No |
ClinGen TOPMed |
|
|
rs950766936 CA313695025 |
515 | D>V | No |
ClinGen Ensembl |
|
|
rs573933019 CA9795161 |
516 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA408449568 rs1568695161 |
517 | S>N | No |
ClinGen Ensembl |
|
|
CA408449589 rs1210713436 |
519 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs780955285 CA9795164 |
520 | K>* | No |
ClinGen ExAC gnomAD |
|
|
rs745732500 CA9795165 |
520 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA313695065 rs991012083 |
521 | K>M | No |
ClinGen Ensembl |
|
|
CA313695059 rs201810385 |
521 | K>Q | No |
ClinGen Ensembl |
|
|
CA408449633 rs1381484937 |
524 | P>A | No |
ClinGen gnomAD |
|
|
CA9795166 rs200371862 |
524 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs201737200 CA9795168 |
526 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9795169 rs201737200 |
526 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408449660 rs200277098 |
527 | S>I | No |
ClinGen TOPMed gnomAD |
|
|
CA313695085 rs200277098 |
527 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs377297438 CA9795171 |
529 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA408449697 rs1600736714 |
530 | V>G | No |
ClinGen Ensembl |
|
|
CA408449692 rs1191974152 |
530 | V>M | No |
ClinGen gnomAD |
|
|
rs2228977 CA408449739 |
534 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA408449730 rs1377596515 |
534 | D>N | No |
ClinGen gnomAD |
|
|
CA313695120 COSM576899 rs758229367 |
535 | V>M | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs759922761 CA9795174 |
537 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1477330520 CA408449764 |
537 | K>T | No |
ClinGen gnomAD |
|
|
rs765539638 CA9795175 |
539 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA408449793 rs1360439266 |
540 | Q>* | No |
ClinGen gnomAD |
|
|
CA9795194 rs746668649 |
542 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA9795195 rs770160297 |
544 | L>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9795197 rs763500474 |
545 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA9795199 rs143142471 |
547 | S>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9795198 rs143142471 |
547 | S>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs767610773 CA9795201 |
550 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs146700755 CA9795203 |
551 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9795205 rs760848162 |
553 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs376528392 CA313695904 |
555 | K>N | No |
ClinGen ESP TOPMed gnomAD |
|
| TCGA novel | 557 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA408450021 rs1354911857 |
558 | I>V | No |
ClinGen TOPMed |
|
|
rs1487059262 CA408450028 |
559 | N>D | No |
ClinGen gnomAD |
|
|
rs201919493 CA408450031 |
559 | N>I | No |
ClinGen TOPMed gnomAD |
|
|
rs201919493 CA313695932 |
559 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA313695943 rs140274311 |
560 | P>A | No |
ClinGen ESP |
|
|
rs1479877562 CA408450037 |
560 | P>L | No |
ClinGen gnomAD |
|
|
rs140274311 CA313695947 |
560 | P>S | No |
ClinGen ESP |
|
|
CA9795211 rs757942081 |
562 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9795213 rs746649069 |
563 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA9795212 rs777461719 |
563 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA313695982 rs974106672 |
563 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA408450062 rs770545967 |
564 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA408450069 rs2227892 |
565 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9795215 rs780465944 |
565 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769026294 CA9795217 |
566 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408450082 rs1368818596 |
567 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs774794812 CA9795219 |
568 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA408450118 rs1356396826 |
573 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA9795221 rs772109341 |
575 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA9795223 rs760939540 |
576 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773215976 CA9795222 |
576 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9795225 rs776924369 |
577 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766443619 CA9795224 |
577 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA408450151 rs111830780 |
578 | L>V | No |
ClinGen gnomAD |
|
|
rs1568695752 CA408450169 |
581 | C>G | No |
ClinGen Ensembl |
|
| TCGA novel | 583 | H>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs200537500 CA9795229 |
584 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs763681247 CA9795230 |
585 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA408450209 rs1441949106 |
587 | L>P | No |
ClinGen gnomAD |
|
|
rs1568695776 CA408450220 |
589 | N>D | No |
ClinGen Ensembl |
|
|
rs140645272 CA9795313 |
590 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA408450249 rs1568697635 |
592 | K>E | No |
ClinGen Ensembl |
|
|
CA313699450 rs925614283 |
592 | K>R | No |
ClinGen TOPMed |
|
|
CA9795315 rs200309794 |
594 | D>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs756734842 CA9795316 |
595 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408450280 rs1333292504 |
596 | A>V | No |
ClinGen gnomAD |
|
|
CA9795318 rs754020773 |
597 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1464212192 CA408450286 |
597 | K>T | No |
ClinGen gnomAD |
|
|
CA9795320 rs779141208 |
598 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA9795319 rs755020144 |
598 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs1245860533 CA408450314 |
602 | R>K | No |
ClinGen gnomAD |
|
|
CA313699529 rs200142529 |
603 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9795322 rs200142529 |
603 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201090852 CA9795323 |
603 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1180804572 CA408450331 COSM1025340 |
605 | M>I | endometrium [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs201995834 CA9795325 |
605 | M>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9795327 rs368639278 |
605 | M>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368639278 CA9795326 |
605 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200461227 CA9795328 |
606 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9795330 rs762553827 |
607 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9795415 rs764832762 |
611 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1438151389 CA408450381 |
611 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA9795418 rs777242041 |
613 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA408450388 rs1227472244 |
613 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA9795420 rs746706246 |
617 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA9795419 rs746706246 |
617 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA408450426 rs1475938001 |
618 | K>R | No |
ClinGen gnomAD |
|
|
CA408450434 rs1172510955 |
619 | L>R | No |
ClinGen gnomAD |
|
|
rs1412284319 CA408450441 |
620 | I>M | No |
ClinGen gnomAD |
|
|
CA9795421 rs138166090 |
622 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1391433507 CA408450453 |
622 | K>R | No |
ClinGen TOPMed |
|
|
CA9795422 rs749783626 |
623 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs774845459 CA9795424 |
625 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA313703123 rs199553206 |
625 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA9795425 rs199553206 |
625 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1227802383 CA408450473 |
626 | S>A | No |
ClinGen gnomAD |
|
|
CA408450476 rs1274192473 |
626 | S>F | No |
ClinGen gnomAD |
|
|
rs773269581 CA9795427 |
627 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA9795429 rs766260508 |
628 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA9795433 rs752703479 |
629 | D>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA9795431 rs759405443 |
629 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9795432 rs759405443 |
629 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751149399 CA9795436 |
630 | V>D | No |
ClinGen ExAC gnomAD |
|
|
CA9795435 rs149134071 |
630 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
rs756993956 CA9795437 |
631 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9795438 rs143219973 |
632 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9795439 rs754135034 |
633 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs779347887 CA9795441 |
635 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748724121 CA9795442 |
635 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs779347887 CA408450525 |
635 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777960780 CA9795445 |
638 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA9795446 rs759661494 |
640 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA408450569 rs1353160195 |
642 | K>T | No |
ClinGen gnomAD |
|
|
rs1239165438 CA408450574 |
643 | V>M | No |
ClinGen TOPMed |
|
|
CA9795447 rs372518035 |
644 | I>N | No |
ClinGen ESP ExAC TOPMed |
|
|
rs1237979392 CA408450643 |
649 | Y>C | No |
ClinGen gnomAD |
|
|
CA313703204 rs200046910 |
650 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs139162483 CA9795448 |
650 | R>H | Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs139162483 CA408450653 |
650 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1194880624 CA408450673 |
652 | S>F | No |
ClinGen gnomAD |
|
|
CA9795450 rs377025742 |
652 | S>P | No |
ClinGen ESP ExAC gnomAD |
|
|
CA408450725 rs1438552140 |
657 | V>M | No |
ClinGen gnomAD |
|
|
CA9795483 rs201515711 |
658 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA313704287 rs927762260 COSM1263629 |
659 | P>L | oesophagus [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA9795486 rs201109691 |
661 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9795487 rs746073268 |
661 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA313704315 rs998171314 |
662 | D>H | No |
ClinGen TOPMed |
|
|
CA408451195 rs1489241612 |
662 | D>V | No |
ClinGen TOPMed |
|
|
rs1209891706 CA408451201 |
663 | L>R | No |
ClinGen TOPMed |
|
|
CA9795489 rs199748264 |
663 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408451206 rs1568699674 |
664 | S>L | No |
ClinGen Ensembl |
|
|
rs1007091691 CA313704324 |
665 | Q>E | No |
ClinGen TOPMed |
|
|
rs1465623427 CA408451212 |
665 | Q>L | No |
ClinGen gnomAD |
|
|
rs768358990 CA408451222 |
666 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1200619420 CA408451218 |
666 | Q>P | No |
ClinGen gnomAD |
|
|
rs1219499303 CA408451224 |
667 | I>V | No |
ClinGen TOPMed |
|
|
rs748127631 CA9795494 |
669 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA9795495 rs771551168 |
669 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA408451236 rs748127631 |
669 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA408451244 rs1342951966 |
670 | A>V | No |
ClinGen TOPMed |
|
|
rs772770448 CA313704353 |
672 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772770448 CA9795496 |
672 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA313704344 rs963030237 |
672 | T>S | No |
ClinGen TOPMed |
|
|
rs200843501 CA9795499 COSM3693408 |
673 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA9795500 rs765996158 |
674 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA9795501 rs776165720 |
676 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1211244035 CA408451282 |
677 | T>I | No |
ClinGen gnomAD |
|
|
rs763332957 CA408451285 |
678 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763332957 CA9795502 |
678 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408451302 rs1484780779 |
680 | M>T | No |
ClinGen gnomAD |
|
|
rs1239031605 CA408451299 |
680 | M>V | No |
ClinGen TOPMed |
|
|
CA313704412 rs934011476 CA313704411 |
683 | M>I | No |
ClinGen TOPMed |
|
|
CA313704399 rs752090337 |
683 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9795504 rs752090337 |
683 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1292109748 CA408451326 |
684 | L>I | No |
ClinGen TOPMed |
|
|
rs767699360 CA9795506 |
686 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA408451341 rs767699360 |
686 | G>W | No |
ClinGen ExAC gnomAD |
|
|
rs374705677 CA9795509 |
687 | A>P | No |
ClinGen ESP ExAC |
|
|
rs374705677 CA9795508 |
687 | A>T | No |
ClinGen ESP ExAC |
|
|
rs749504666 CA9795510 |
687 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs994317991 CA313704426 |
688 | L>F | No |
ClinGen TOPMed |
|
|
CA408451359 rs1182248381 |
690 | I>L | No |
ClinGen TOPMed |
|
|
CA408451365 rs778626594 |
690 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs142831569 CA9795513 |
691 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA408451373 rs772068229 |
692 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9795514 rs772068229 |
692 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201683795 CA313704439 |
692 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1292561273 CA408451382 |
693 | M>I | No |
ClinGen TOPMed |
|
|
rs1320453205 CA408451375 |
693 | M>L | No |
ClinGen TOPMed |
|
|
CA9795516 rs746469695 |
695 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408451392 rs746469695 |
695 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9795517 rs770376445 |
696 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1319305527 CA408451404 |
697 | N>D | No |
ClinGen Ensembl |
|
|
CA9795520 rs543152186 |
698 | V>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs150582502 CA9795519 |
698 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1191739979 CA408451433 |
701 | A>S | No |
ClinGen gnomAD |
|
| TCGA novel | 701 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs867096741 CA313704479 |
701 | A>V | No |
ClinGen Ensembl |
|
|
CA408451436 rs1454773924 COSM1410869 |
702 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA9795522 rs762272056 |
703 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA408451459 rs1349734885 |
705 | G>E | No |
ClinGen gnomAD |
|
|
rs760769798 CA9795525 |
705 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1600743327 CA408451465 |
706 | A>D | No |
ClinGen Ensembl |
|
|
rs201190363 CA9795527 |
707 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA408451484 rs755218029 |
709 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA9795528 rs755218029 |
709 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1439944047 CA408451493 |
710 | F>S | No |
ClinGen TOPMed |
|
|
rs1278479512 CA408451496 |
711 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1278479512 CA408451497 |
711 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1600743360 CA408451507 |
712 | F>C | No |
ClinGen Ensembl |
|
|
rs202071254 CA408451511 |
713 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs202071254 CA9795530 |
713 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1600743386 CA408451516 |
714 | L>M | No |
ClinGen Ensembl |
|
|
rs201026212 CA313704520 |
715 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9795532 rs202044191 |
715 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9795533 rs202044191 |
715 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201026212 CA9795531 COSM1410871 |
715 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs200278585 CA9795534 |
716 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408451531 rs1177910404 |
717 | E>G | No |
ClinGen gnomAD |
|
|
CA408451539 rs1471198194 |
718 | D>E | No |
ClinGen gnomAD |
|
|
rs780623140 CA9795535 |
718 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780623140 CA9795536 |
718 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA313704543 rs201523718 |
719 | V>I | No |
ClinGen Ensembl |
|
|
rs775297203 CA9795538 |
720 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762220823 CA9795539 |
721 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA9795541 rs773825393 |
724 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9795540 rs200651537 |
724 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs139606197 CA9795542 |
725 | K>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs946657750 CA313704570 |
726 | G>R | No |
ClinGen TOPMed |
|
|
CA9795572 rs371779411 |
731 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA742446177 rs1430968284 |
732 | Y>* | No |
ClinGen TOPMed |
|
|
rs201558534 CA408451651 |
733 | Y>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1394020869 CA408451647 |
733 | Y>C | No |
ClinGen gnomAD |
|
|
CA408451645 rs1172491543 |
733 | Y>H | No |
ClinGen gnomAD |
|
|
rs969562567 CA313705606 |
734 | D>H | No |
ClinGen gnomAD |
|
|
CA408451652 rs969562567 |
734 | D>N | No |
ClinGen gnomAD |
|
|
rs748938112 CA9795574 |
737 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA313705618 rs1032583603 |
738 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA408451684 rs1431470545 |
739 | L>M | No |
ClinGen gnomAD |
|
|
CA9795576 rs778635508 |
740 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs200955420 CA9795579 COSM1410872 |
743 | V>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA9795580 rs746420846 |
746 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408451749 rs1286844559 |
748 | S>N | No |
ClinGen gnomAD |
|
|
CA408451758 rs1234057087 |
749 | G>V | No |
ClinGen gnomAD |
|
|
rs139211183 CA9795581 |
750 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9795582 rs775612731 |
751 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs200213744 CA313705634 |
752 | S>F | No |
ClinGen Ensembl |
|
|
CA313705641 rs201196213 |
753 | P>H | No |
ClinGen ExAC gnomAD |
|
|
rs201196213 CA9795583 |
753 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA408451779 rs1452054257 |
753 | P>S | No |
ClinGen gnomAD |
|
|
rs202075756 CA313705643 |
754 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9795584 rs202075756 |
754 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408451783 rs1226570815 |
754 | K>R | No |
ClinGen TOPMed |
|
|
CA408451785 rs1226570815 |
754 | K>T | No |
ClinGen TOPMed |
|
|
rs200538527 CA313705652 |
755 | E>D | No |
ClinGen Ensembl |
|
|
CA408451788 rs1156430531 |
755 | E>K | No |
ClinGen gnomAD |
|
|
CA313705655 rs753908371 |
758 | C>Y | No |
ClinGen Ensembl |
|
|
CA9795585 rs375208083 |
759 | F>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs767386910 CA9795588 |
761 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA313705660 rs754374389 |
761 | D>N | No |
ClinGen Ensembl |
|
|
CA9795592 rs199570469 |
762 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs534747186 CA9795590 |
762 | I>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs754553369 CA9795593 |
763 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408451860 rs1406159689 |
765 | M>T | No |
ClinGen TOPMed |
|
|
rs778385568 CA9795594 |
766 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs757537879 CA408451871 |
767 | M>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757537879 CA9795596 |
767 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1470249896 CA408451878 |
768 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs781661901 CA9795597 |
770 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs746367822 CA9795598 |
771 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9795670 rs757485837 |
773 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA408452489 rs1297277449 |
775 | F>I | No |
ClinGen gnomAD |
|
|
CA9795672 rs745625366 |
775 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs199953270 CA313706868 |
778 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1329630446 CA408452517 |
779 | E>K | No |
ClinGen TOPMed |
|
|
rs768142737 CA9795676 |
780 | A>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 782 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9795677 rs201552182 |
782 | M>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1568701998 CA408452538 |
782 | M>L | No |
ClinGen Ensembl |
|
|
CA9795678 rs201552182 |
782 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA313706913 rs201552182 |
782 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1291857752 CA408452548 |
783 | Q>R | No |
ClinGen gnomAD |
|
|
CA313706927 rs200169369 |
786 | A>P | No |
ClinGen TOPMed |
|
|
rs200169369 CA313706926 |
786 | A>T | No |
ClinGen TOPMed |
|
|
rs1385784008 CA408452578 |
787 | Q>H | No |
ClinGen TOPMed |
|
|
CA9795681 rs759908221 |
789 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1130694 CA408452600 CA408452599 |
790 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs200414727 CA9795685 |
793 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs202186644 CA9795684 COSM269986 |
793 | R>W | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs201489693 CA9795711 |
794 | N>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1229167778 CA408452633 |
794 | N>S | No |
ClinGen gnomAD |
|
|
CA9795713 rs372147025 |
795 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA313707472 rs372147025 |
795 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9795714 rs753688457 |
797 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs543004571 CA9795715 |
798 | W>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9795716 rs778859092 |
800 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs755933225 CA313707495 |
801 | K>E | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 801 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9795719 rs777084935 |
802 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA9795720 rs746528562 |
803 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1388367234 CA408452694 |
804 | R>G | No |
ClinGen TOPMed |
|
|
rs763452962 CA9795723 |
805 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs775021141 CA9795725 |
807 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA408452731 rs762351986 |
809 | S>* | No |
ClinGen ExAC gnomAD |
|
|
rs762351986 CA9795726 |
809 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs967014750 CA313707518 |
810 | G>R | No |
ClinGen Ensembl |
|
|
CA408452873 rs1477097118 |
811 | K>R | No |
ClinGen TOPMed |
|
|
CA313707521 COSM1025343 rs977518115 |
812 | F>L | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs1435688601 CA408452894 |
813 | S>F | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 813 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA408452910 rs1302835463 |
815 | D>Y | No |
ClinGen gnomAD |
|
|
CA408452922 rs1464344437 |
816 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs142992981 CA9795729 |
816 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs766556780 CA9795730 |
817 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1350426292 CA408452935 |
817 | T>S | No |
ClinGen gnomAD |
|
|
COSM125712 rs754026365 CA9795731 |
818 | I>V | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs754795509 CA9795732 |
819 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs1600750060 CA408452976 |
822 | A>T | No |
ClinGen Ensembl |
|
|
CA9795735 rs758339184 |
823 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758339184 COSM1734054 CA408452987 |
823 | R>Q | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA9795734 rs199554595 |
823 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs200718011 CA9795736 |
824 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1200561159 CA408452997 |
824 | E>V | No |
ClinGen gnomAD |
|
|
rs1600750094 CA408453009 |
825 | I>M | No |
ClinGen Ensembl |
|
|
CA408453002 rs1466809800 |
825 | I>V | No |
ClinGen gnomAD |
|
|
CA313707544 rs998451520 |
827 | G>V | No |
ClinGen TOPMed |
|
|
rs756762820 CA9795738 |
828 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA408453047 rs1457762145 |
829 | E>D | No |
ClinGen gnomAD |
|
|
CA9795739 rs562479236 |
829 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA408453058 rs1325138715 |
830 | P>L | No |
ClinGen gnomAD |
|
|
CA9795741 rs769156651 |
832 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA408453108 rs1335358365 |
835 | I>M | No |
ClinGen gnomAD |
|
|
CA9795742 rs116595887 |
836 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9795743 rs116595887 |
836 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA408453112 rs1442299541 |
836 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1346107803 CA408453120 |
837 | P>S | No |
ClinGen TOPMed |
|
|
CA408453130 rs201566117 |
838 | P>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9795746 rs201566117 |
838 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9795747 rs201566117 |
838 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA408453135 rs1387034463 |
839 | N>D | No |
ClinGen Ensembl |
|
| rs759183743 | 839 | N>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766438931 CA9795748 |
839 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA9795750 rs759692944 |
840 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776857570 CA9795749 |
840 | I>T | No |
ClinGen ExAC TOPMed |
|
|
CA408453144 rs1568702944 |
840 | I>V | No |
ClinGen Ensembl |
|
|
CA9795752 rs752549869 |
841 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA9795753 rs146361543 |
842 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200006792 CA313707628 |
842 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA9795754 rs146361543 |
842 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs752329685 CA9795756 |
843 | D>E | No |
ClinGen ExAC |
|
|
CA313707650 rs200916668 |
843 | D>E | No |
ClinGen Ensembl |
|
|
CA9795757 rs751476123 |
843 | D>G | No |
ClinGen ExAC TOPMed |
|
|
rs774335478 CA313707637 |
843 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA313707641 rs774335478 |
843 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA408453178 rs1253796129 |
844 | D>W | No |
ClinGen TOPMed gnomAD |
No associated diseases with P11216
1 regional properties for P11216
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| conserved_site | Phosphorylase pyridoxal-phosphate attachment site | 673 - 685 | IPR035090 |
Functions
| Description | ||
|---|---|---|
| EC Number | 2.4.1.1 | Hexosyltransferases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| azurophil granule lumen | The volume enclosed by the membrane of an azurophil granule, a primary lysosomal granule found in neutrophil granulocytes that contains a wide range of hydrolytic enzymes and is released into the extracellular fluid. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| extracellular exosome | A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm. |
| extracellular region | The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite. |
| 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 |
|---|---|
| glycogen phosphorylase activity | Catalysis of the reaction: glycogen + phosphate = maltodextrin + alpha-D-glucose 1-phosphate. |
| linear malto-oligosaccharide phosphorylase activity | Catalysis of the reaction: hydrogenphosphate + a linear malto-oligosaccharide = alpha-D-glucose 1-phosphate + a linear malto-oligosaccharide. |
| pyridoxal phosphate binding | Binding to pyridoxal 5' phosphate, 3-hydroxy-5-(hydroxymethyl)-2-methyl4-pyridine carboxaldehyde 5' phosphate, the biologically active form of vitamin B6. |
| SHG alpha-glucan phosphorylase activity | Catalysis of the reaction: hydrogenphosphate + a plant soluble heteroglycan = alpha-D-glucose 1-phosphate + a plant soluble heteroglycan. |
1 GO annotations of biological process
| Name | Definition |
|---|---|
| glycogen catabolic process | The chemical reactions and pathways resulting in the breakdown of glycogen, a polydisperse, highly branched glucan composed of chains of D-glucose residues. |
14 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P06738 | GPH1 | Glycogen phosphorylase | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | PR |
| Q0VCM4 | PYGL | Glycogen phosphorylase, liver form | Bos taurus (Bovine) | PR |
| P06737 | PYGL | Glycogen phosphorylase, liver form | Homo sapiens (Human) | PR |
| P11217 | PYGM | Glycogen phosphorylase, muscle form | Homo sapiens (Human) | PR |
| Q9WUB3 | Pygm | Glycogen phosphorylase, muscle form | Mus musculus (Mouse) | PR |
| Q8CI94 | Pygb | Glycogen phosphorylase, brain form | Mus musculus (Mouse) | PR |
| Q9ET01 | Pygl | Glycogen phosphorylase, liver form | Mus musculus (Mouse) | PR |
| P04045 | Alpha-1,4 glucan phosphorylase L-1 isozyme, chloroplastic/amyloplastic | Solanum tuberosum (Potato) | PR | |
| P53535 | STP-1 | Alpha-1,4 glucan phosphorylase L-2 isozyme, chloroplastic/amyloplastic | Solanum tuberosum (Potato) | PR |
| P32811 | Alpha-glucan phosphorylase, H isozyme | Solanum tuberosum (Potato) | PR | |
| P09812 | Pygm | Glycogen phosphorylase, muscle form | Rattus norvegicus (Rat) | PR |
| P09811 | Pygl | Glycogen phosphorylase, liver form | Rattus norvegicus (Rat) | PR |
| Q9LIB2 | PHS1 | Alpha-glucan phosphorylase 1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9SD76 | PHS2 | Alpha-glucan phosphorylase 2, cytosolic | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAKPLTDSEK | RKQISVRGLA | GLGDVAEVRK | SFNRHLHFTL | VKDRNVATPR | DYFFALAHTV |
| 70 | 80 | 90 | 100 | 110 | 120 |
| RDHLVGRWIR | TQQHYYERDP | KRIYYLSLEF | YMGRTLQNTM | VNLGLQNACD | EAIYQLGLDL |
| 130 | 140 | 150 | 160 | 170 | 180 |
| EELEEIEEDA | GLGNGGLGRL | AACFLDSMAT | LGLAAYGYGI | RYEFGIFNQK | IVNGWQVEEA |
| 190 | 200 | 210 | 220 | 230 | 240 |
| DDWLRYGNPW | EKARPEYMLP | VHFYGRVEHT | PDGVKWLDTQ | VVLAMPYDTP | VPGYKNNTVN |
| 250 | 260 | 270 | 280 | 290 | 300 |
| TMRLWSAKAP | NDFKLQDFNV | GDYIEAVLDR | NLAENISRVL | YPNDNFFEGK | ELRLKQEYFV |
| 310 | 320 | 330 | 340 | 350 | 360 |
| VAATLQDIIR | RFKSSKFGCR | DPVRTCFETF | PDKVAIQLND | THPALSIPEL | MRILVDVEKV |
| 370 | 380 | 390 | 400 | 410 | 420 |
| DWDKAWEITK | KTCAYTNHTV | LPEALERWPV | SMFEKLLPRH | LEIIYAINQR | HLDHVAALFP |
| 430 | 440 | 450 | 460 | 470 | 480 |
| GDVDRLRRMS | VIEEGDCKRI | NMAHLCVIGS | HAVNGVARIH | SEIVKQSVFK | DFYELEPEKF |
| 490 | 500 | 510 | 520 | 530 | 540 |
| QNKTNGITPR | RWLLLCNPGL | ADTIVEKIGE | EFLTDLSQLK | KLLPLVSDEV | FIRDVAKVKQ |
| 550 | 560 | 570 | 580 | 590 | 600 |
| ENKLKFSAFL | EKEYKVKINP | SSMFDVHVKR | IHEYKRQLLN | CLHVVTLYNR | IKRDPAKAFV |
| 610 | 620 | 630 | 640 | 650 | 660 |
| PRTVMIGGKA | APGYHMAKLI | IKLVTSIGDV | VNHDPVVGDR | LKVIFLENYR | VSLAEKVIPA |
| 670 | 680 | 690 | 700 | 710 | 720 |
| ADLSQQISTA | GTEASGTGNM | KFMLNGALTI | GTMDGANVEM | AEEAGAENLF | IFGLRVEDVE |
| 730 | 740 | 750 | 760 | 770 | 780 |
| ALDRKGYNAR | EYYDHLPELK | QAVDQISSGF | FSPKEPDCFK | DIVNMLMHHD | RFKVFADYEA |
| 790 | 800 | 810 | 820 | 830 | 840 |
| YMQCQAQVDQ | LYRNPKEWTK | KVIRNIACSG | KFSSDRTITE | YAREIWGVEP | SDLQIPPPNI |
| PRD |