Q9NZJ5
Gene name |
EIF2AK3 (PEK, PERK) |
Protein name |
Eukaryotic translation initiation factor 2-alpha kinase 3 |
Names |
PRKR-like endoplasmic reticulum kinase, Pancreatic eIF2-alpha kinase, HsPEK |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:9451 |
EC number |
2.7.11.1: Protein-serine/threonine kinases |
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
954-989 (Activation loop from InterPro)
Target domain |
593-1077 (Protein kinase domain) |
Relief mechanism |
|
Assay |
|
Autoinhibited structure

Activated structure

16 structures for Q9NZJ5
Entry ID | Method | Resolution | Chain | Position | Source |
---|---|---|---|---|---|
4G31 | X-ray | 228 A | A | 588-1093 | PDB |
4G34 | X-ray | 270 A | A | 588-1093 | PDB |
4M7I | X-ray | 234 A | A | 588-1093 | PDB |
4X7H | X-ray | 200 A | A | 575-1094 | PDB |
4X7J | X-ray | 230 A | A | 575-1094 | PDB |
4X7K | X-ray | 180 A | A | 575-1094 | PDB |
4X7L | X-ray | 190 A | A | 575-1094 | PDB |
4X7N | X-ray | 235 A | A | 575-1094 | PDB |
4X7O | X-ray | 265 A | A | 575-1094 | PDB |
4YZS | X-ray | 314 A | A/B | 104-403 | PDB |
5SV7 | X-ray | 321 A | A/B/C/D | 95-420 | PDB |
7MF0 | X-ray | 281 A | AAA | 575-1094 | PDB |
8EQ9 | X-ray | 286 A | AAA | 575-1094 | PDB |
8EQD | X-ray | 292 A | AAA | 575-1094 | PDB |
8EQE | X-ray | 256 A | AAA | 575-1094 | PDB |
AF-Q9NZJ5-F1 | Predicted | AlphaFoldDB |
813 variants for Q9NZJ5
Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
---|---|---|---|---|---|
RCV001865223 CA10614598 rs886056419 RCV000403647 |
5 | I>V | Wolcott-Rallison dysplasia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
rs1045275032 CA51963765 RCV002556982 RCV001140157 |
18 | L>R | Wolcott-Rallison dysplasia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
RCV000173359 RCV001521775 rs1805190 RCV000344451 |
21 | L>missing | Wolcott-Rallison dysplasia [ClinVar] | Yes |
ClinVar dbSNP |
RCV000287113 CA10616306 rs886056418 |
23 | L>R | Wolcott-Rallison dysplasia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
RCV001137907 rs1675887917 |
34 | R>H | Wolcott-Rallison dysplasia [ClinVar] | Yes |
ClinVar dbSNP |
rs766276341 RCV001174437 RCV002505754 CA1755009 RCV001873639 |
50 | A>V | Wolcott-Rallison dysplasia Monogenic diabetes [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
rs201593811 RCV002277335 RCV000379170 CA238804 RCV000894632 RCV000173360 RCV000664082 |
52 | A>T | Connective tissue disorder Wolcott-Rallison dysplasia Monogenic diabetes [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
RCV001856761 rs1675883639 RCV001137906 |
71 | T>I | Wolcott-Rallison dysplasia [ClinVar] | Yes |
ClinVar dbSNP |
CA1754990 rs539891019 RCV001137905 RCV001174436 RCV001417472 |
79 | P>L | Wolcott-Rallison dysplasia Monogenic diabetes [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
RCV000322169 CA152715 VAR_011409 RCV000116969 rs867529 RCV001516846 |
136 | S>C | Wolcott-Rallison dysplasia [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
CA16609248 RCV000445410 rs1057524886 |
147 | V>G | Monogenic diabetes [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
VAR_011410 RCV001521774 CA152717 RCV002277158 rs13045 RCV000116970 RCV000283479 |
166 | Q>R | Connective tissue disorder Wolcott-Rallison dysplasia [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
rs1003629254 CA51498993 RCV000625664 RCV001855320 |
168 | R>H | Wolcott-Rallison dysplasia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
RCV000349841 CA1754900 RCV002502135 rs200991366 |
186 | Y>H | Wolcott-Rallison dysplasia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
RCV001861158 RCV002278523 RCV002523146 RCV000375498 rs147458427 CA1754859 |
240 | R>H | Connective tissue disorder Wolcott-Rallison dysplasia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
RCV001142646 CA1754858 rs775353963 |
246 | R>K | Wolcott-Rallison dysplasia [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
CA1754828 rs756231274 RCV001174435 |
278 | F>Y | Monogenic diabetes [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
CA1754823 rs765112357 RCV002493793 RCV001348553 RCV002547480 |
282 | T>I | Wolcott-Rallison dysplasia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
CA1754821 RCV001301631 RCV002499560 rs150474217 |
286 | N>S | Wolcott-Rallison dysplasia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
rs549674310 RCV002495532 CA1754815 RCV000918179 |
302 | E>D | Wolcott-Rallison dysplasia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
rs191277311 RCV001142644 RCV001857094 RCV001174434 RCV000504087 CA1754809 |
310 | I>L | Wolcott-Rallison dysplasia Monogenic diabetes [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
rs121908570 RCV000006236 CA117826 |
332 | E>* | Wolcott-Rallison dysplasia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
rs869025178 RCV000006232 |
346 | K>* | Wolcott-Rallison dysplasia [ClinVar] | Yes |
ClinVar dbSNP |
RCV001329322 rs1674857627 |
362 | T>I | Wolcott-Rallison dysplasia [ClinVar] | Yes |
ClinVar dbSNP |
CA10616305 RCV000318510 rs886056417 |
364 | N>K | Wolcott-Rallison dysplasia [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
CA339733 rs864621972 RCV000204196 |
398 | Q>* | Wolcott-Rallison dysplasia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
rs145427892 RCV001140795 RCV000901896 RCV002279622 CA1754733 |
422 | A>T | Connective tissue disorder Wolcott-Rallison dysplasia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
RCV002493655 rs947983532 RCV001316623 CA51495185 |
422 | A>V | Wolcott-Rallison dysplasia [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
RCV001858920 rs200574679 CA1754717 RCV001140794 |
437 | S>Y | Wolcott-Rallison dysplasia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
CA1754712 RCV001296864 RCV002504437 rs750810139 COSM1471356 COSM255398 |
457 | D>G | Wolcott-Rallison dysplasia central_nervous_system prostate [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
RCV001140793 RCV001326864 CA1754678 rs141901506 |
502 | D>N | Wolcott-Rallison dysplasia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
RCV001283831 rs1674719462 |
513 | K>missing | Wolcott-Rallison dysplasia [ClinVar] | Yes |
ClinVar dbSNP |
rs797045558 RCV002517071 RCV000193530 |
522 | W>missing | Wolcott-Rallison dysplasia [ClinVar] | Yes |
ClinVar dbSNP |
rs1558652941 RCV000006235 |
523 | K>* | Wolcott-Rallison dysplasia [ClinVar] | Yes |
ClinVar dbSNP |
RCV000368240 rs747376208 CA1754668 RCV001850816 |
534 | I>T | Wolcott-Rallison dysplasia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
RCV000311224 RCV001821019 VAR_040477 CA1754624 RCV000664080 RCV000423642 rs55791823 RCV002278521 |
566 | D>V | Connective tissue disorder Wolcott-Rallison dysplasia Monogenic diabetes [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
RCV001140038 rs1674645367 |
576 | S>R | Wolcott-Rallison dysplasia [ClinVar] | Yes |
ClinVar dbSNP |
RCV001339493 rs150314450 RCV000764448 CA1754614 RCV000445365 RCV002279228 |
584 | G>E | Connective tissue disorder Wolcott-Rallison dysplasia Monogenic diabetes [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
RCV000364989 rs75385605 RCV000116965 CA152708 RCV000664081 RCV000419198 |
586 | I>L | Wolcott-Rallison dysplasia Monogenic diabetes [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
RCV000006233 CA117825 rs121908569 VAR_011408 |
588 | R>Q | Wolcott-Rallison dysplasia Variant assessed as Somatic; impact. WRS [ClinVar, NCI-TCGA, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl NCI-TCGA dbSNP |
RCV001338593 RCV002486354 CA1754583 rs776579341 |
628 | N>S | Wolcott-Rallison dysplasia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
RCV000342457 RCV000432671 rs35226268 CA1754539 |
672 | E>K | Wolcott-Rallison dysplasia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
RCV000499424 RCV001303458 rs771612567 RCV000303905 CA1754514 |
688 | S>R | Wolcott-Rallison dysplasia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
CA1754508 RCV000281735 rs780592115 |
698 | R>H | Wolcott-Rallison dysplasia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
rs189064501 RCV000339055 RCV002519993 CA1754511 |
698 | R>S | Wolcott-Rallison dysplasia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
RCV002476341 RCV000591252 rs781754103 CA1754505 |
702 | P>A | Wolcott-Rallison dysplasia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
RCV000116968 CA152713 RCV001521772 VAR_011411 RCV000374096 rs1805165 |
704 | A>S | Wolcott-Rallison dysplasia [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
CA1754499 rs760433148 RCV000335758 |
712 | I>T | Wolcott-Rallison dysplasia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
RCV001850815 CA1754480 RCV000278324 rs201662849 |
746 | M>T | Wolcott-Rallison dysplasia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
RCV002505321 RCV000906073 CA1754471 rs777171158 |
762 | Q>H | Wolcott-Rallison dysplasia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
RCV002504428 CA1754465 RCV001294549 rs778904290 RCV002538438 |
772 | E>V | Wolcott-Rallison dysplasia Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
rs374540128 RCV001137797 RCV001348253 CA1754446 |
823 | K>E | Wolcott-Rallison dysplasia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
RCV000388427 rs751296708 CA1754441 |
834 | A>T | Wolcott-Rallison dysplasia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
RCV000331627 rs200270016 RCV003114497 CA1754439 |
836 | K>I | Wolcott-Rallison dysplasia [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
rs1178109063 RCV000995765 CA347589607 RCV002549918 |
903 | R>* | Wolcott-Rallison dysplasia [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
rs1553407942 CA347589356 RCV000503236 |
920 | Q>* | Wolcott-Rallison dysplasia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
RCV001142557 rs1674406193 |
934 | M>R | Wolcott-Rallison dysplasia [ClinVar] | Yes |
ClinVar dbSNP |
rs759906972 RCV000501577 RCV002496946 CA1754370 |
975 | M>V | Wolcott-Rallison dysplasia [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
RCV001142556 rs766524866 CA1754368 |
979 | A>T | Wolcott-Rallison dysplasia [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
RCV001329324 rs755369984 |
1032 | T>S | Wolcott-Rallison dysplasia [ClinVar] | Yes |
ClinVar dbSNP |
rs1441763585 CA347583810 RCV001142555 |
1074 | N>K | Wolcott-Rallison dysplasia [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
CA347763649 rs1455129183 |
3 | R>L | No |
ClinGen TOPMed gnomAD |
|
rs1439564564 CA347763643 |
4 | A>G | No |
ClinGen TOPMed |
|
CA347763637 rs1378858666 |
5 | I>S | No |
ClinGen TOPMed |
|
rs1432289766 CA347763630 |
6 | S>I | No |
ClinGen gnomAD |
|
CA347763628 rs780496323 |
6 | S>R | No |
ClinGen ExAC gnomAD |
|
CA347763624 rs1038519173 |
7 | P>L | No |
ClinGen gnomAD |
|
CA51963773 rs1038519173 |
7 | P>R | No |
ClinGen gnomAD |
|
rs1486401299 CA347763620 |
8 | G>R | No |
ClinGen gnomAD |
|
CA347763616 rs1573432415 |
9 | L>M | No |
ClinGen Ensembl |
|
rs1247889487 CA347763613 |
9 | L>P | No |
ClinGen gnomAD |
|
CA347763610 rs1462706867 |
10 | L>V | No |
ClinGen gnomAD |
|
rs1232776381 CA347763600 |
12 | R>G | No |
ClinGen gnomAD |
|
rs756618692 CA1755021 |
12 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
CA347763594 rs1216036151 |
13 | A>S | No |
ClinGen gnomAD |
|
rs1573432370 CA347763586 |
14 | L>P | No |
ClinGen Ensembl |
|
rs1182739831 CA347763562 |
19 | L>P | No |
ClinGen gnomAD |
|
CA347763553 rs1399462832 |
21 | L>V | No |
ClinGen TOPMed |
|
CA347763537 rs1220868165 |
24 | A>P | No |
ClinGen TOPMed |
|
rs1205554960 CA347763533 |
24 | A>V | No |
ClinGen gnomAD |
|
rs1457762479 CA347763523 |
26 | R>K | No |
ClinGen TOPMed |
|
rs1296667678 CA347763520 |
26 | R>S | No |
ClinGen gnomAD |
|
rs1200915007 CA347763513 |
28 | V>M | No |
ClinGen gnomAD |
|
CA51963750 rs935323305 |
29 | A>P | No |
ClinGen TOPMed gnomAD |
|
CA1755014 rs529920914 |
29 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA1755012 rs764363291 |
30 | A>T | No |
ClinGen ExAC gnomAD |
|
rs1373301967 CA347763481 |
33 | A>V | No |
ClinGen TOPMed |
|
CA1755011 rs759316192 |
34 | R>S | No |
ClinGen ExAC gnomAD |
|
rs1370315159 CA347763473 |
35 | G>D | No |
ClinGen gnomAD |
|
rs776456569 CA1755010 |
35 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA347763475 rs776456569 |
35 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1167045257 CA347763470 |
36 | L>F | No |
ClinGen gnomAD |
|
CA347763462 rs1317727916 |
37 | P>S | No |
ClinGen gnomAD |
|
rs886042833 CA10604741 RCV000302079 RCV001820817 |
38 | A>T | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1388434655 CA347763454 |
38 | A>V | No |
ClinGen TOPMed |
|
rs1385185104 CA347763448 |
39 | P>L | No |
ClinGen TOPMed |
|
RCV001327447 rs1675886949 |
41 | A>G | No |
ClinVar dbSNP |
|
TCGA novel | 42 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1187474096 CA347763416 |
44 | A>V | No |
ClinGen gnomAD |
|
rs1177978428 CA347763386 |
49 | A>E | No |
ClinGen TOPMed gnomAD |
|
rs1177978428 CA347763384 |
49 | A>V | No |
ClinGen TOPMed gnomAD |
|
rs201593811 CA1755008 |
52 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1202682565 CA347763366 |
53 | P>A | No |
ClinGen gnomAD |
|
rs1361346758 CA347763364 |
53 | P>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
rs905092644 CA51963736 |
55 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
CA1755006 rs761352130 |
56 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
CA1755005 rs773937986 |
57 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
CA347763342 rs773937986 |
57 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs768354404 CA1755004 |
58 | R>Q | No |
ClinGen ExAC gnomAD |
|
rs1407082315 CA347763336 |
59 | V>L | No |
ClinGen gnomAD |
|
CA347763328 rs1456887978 |
60 | P>R | No |
ClinGen gnomAD |
|
rs1163180250 CA347763329 |
60 | P>S | No |
ClinGen gnomAD |
|
rs1249821556 CA347763308 |
63 | G>D | No |
ClinGen gnomAD |
|
rs1453110315 CA347763307 |
64 | A>T | No |
ClinGen gnomAD |
|
rs1489098296 CA347763302 |
64 | A>V | No |
ClinGen TOPMed |
|
rs1209141506 CA347763299 |
65 | V>L | No |
ClinGen gnomAD |
|
rs746375881 CA1755000 |
66 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs781620386 CA1754999 |
67 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA1754998 rs757383379 |
68 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs565172181 CA1754996 |
70 | V>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs1036035211 CA51963723 |
75 | A>T | No |
ClinGen TOPMed gnomAD |
|
rs1323254419 CA347763224 |
77 | A>E | No |
ClinGen gnomAD |
|
rs1001666194 CA51963722 |
77 | A>T | No |
ClinGen TOPMed |
|
rs1323254419 CA347763222 |
77 | A>V | No |
ClinGen gnomAD |
|
rs539891019 CA1754991 |
79 | P>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs766230167 CA1754992 |
79 | P>S | No |
ClinGen ExAC gnomAD |
|
CA347763202 rs1456764971 |
81 | A>V | No |
ClinGen gnomAD |
|
CA347763196 rs1478508112 |
82 | A>E | No |
ClinGen TOPMed gnomAD |
|
CA347763197 rs1478508112 |
82 | A>G | No |
ClinGen TOPMed gnomAD |
|
CA347763199 rs1178813253 |
82 | A>S | No |
ClinGen gnomAD |
|
CA347763198 rs1478508112 |
82 | A>V | No |
ClinGen TOPMed gnomAD |
|
rs1197851445 CA347763179 |
85 | Q>* | No |
ClinGen gnomAD |
|
rs1422535694 CA347763178 |
85 | Q>P | No |
ClinGen gnomAD |
|
CA1754987 rs767999139 |
89 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA1754986 rs767999139 |
89 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA347763146 rs1249747845 |
90 | P>R | No |
ClinGen gnomAD |
|
rs770154991 CA1754984 |
91 | E>D | No |
ClinGen ExAC gnomAD |
|
rs774936605 CA1754985 |
91 | E>G | No |
ClinGen ExAC gnomAD |
|
CA347763127 CA1754983 rs372535313 |
93 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA51963707 rs896692801 |
93 | D>N | No |
ClinGen Ensembl |
|
CA51963703 rs1053103909 |
94 | D>E | No |
ClinGen Ensembl |
|
rs1260850302 CA347763125 |
94 | D>H | No |
ClinGen TOPMed |
|
rs781713956 CA1754982 |
95 | E>K | No |
ClinGen ExAC |
|
rs1386816960 CA347763107 |
96 | T>I | No |
ClinGen TOPMed gnomAD |
|
CA51963700 rs13034488 |
97 | E>* | No |
ClinGen Ensembl |
|
TCGA novel | 97 | E>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA1754980 rs747108159 |
99 | R>Q | No |
ClinGen ExAC gnomAD |
|
CA1754979 rs777931916 |
100 | P>R | No |
ClinGen ExAC gnomAD |
|
CA347763086 rs1231453856 |
100 | P>S | No |
ClinGen gnomAD |
|
rs758371991 CA1754978 |
101 | R>H | No |
ClinGen ExAC gnomAD |
|
rs1284890385 CA347763072 |
103 | R>G | No |
ClinGen TOPMed |
|
rs1204800330 CA347762711 |
103 | R>S | No |
ClinGen gnomAD |
|
rs757041625 COSM289681 CA1754955 |
104 | S>L | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
CA347762709 RCV000593171 rs1340497908 |
104 | S>P | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
TCGA novel CA1754954 rs751527003 |
106 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen ExAC gnomAD |
TCGA novel | 108 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA1754953 rs763921692 |
108 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA1754952 rs139901728 |
110 | T>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1411763475 CA347762640 |
110 | T>S | No |
ClinGen TOPMed gnomAD |
|
CA347762591 rs1314896894 |
115 | I>V | No |
ClinGen TOPMed |
|
rs1338949091 CA347762573 |
116 | A>V | No |
ClinGen TOPMed |
|
CA1754951 rs752117328 |
117 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA347762522 rs1269205947 |
122 | N>H | No |
ClinGen TOPMed |
|
COSM3783446 rs1331657578 COSM3783445 CA347762518 |
122 | N>S | Variant assessed as Somatic; impact. prostate [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
CA347762507 rs1307674868 |
123 | H>R | No |
ClinGen gnomAD |
|
rs1292907531 CA347762492 |
125 | K>E | No |
ClinGen gnomAD |
|
TCGA novel | 128 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
RCV001296860 rs144124418 CA1754950 |
132 | V>M | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs776226805 CA1754948 |
135 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
rs867529 CA347762356 |
136 | S>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs867529 CA347762355 |
136 | S>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
TCGA novel | 140 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA347762308 rs1473288789 |
141 | S>R | No |
ClinGen gnomAD |
|
CA1754947 rs760891399 |
143 | S>C | No |
ClinGen ExAC gnomAD |
|
rs1209761689 CA347596996 |
148 | F>C | No |
ClinGen TOPMed gnomAD |
|
TCGA novel | 151 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA347596970 rs1277977772 |
152 | M>V | No |
ClinGen TOPMed gnomAD |
|
rs754542348 CA1754913 |
157 | L>R | No |
ClinGen ExAC gnomAD |
|
rs753345227 CA1754912 |
164 | W>R | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 165 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs779799076 CA1754911 |
165 | D>N | No |
ClinGen ExAC gnomAD |
|
rs779799076 CA51499019 |
165 | D>Y | No |
ClinGen ExAC gnomAD |
|
COSM244223 rs755704498 CA347596875 |
166 | Q>* | prostate [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
CA1754910 rs755704498 |
166 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
CA1754909 rs767773902 |
166 | Q>H | No |
ClinGen ExAC gnomAD |
|
CA347596873 rs13045 |
166 | Q>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
RCV001319399 CA1754908 rs762206822 |
168 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
rs762206822 CA347596862 |
168 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1003629254 CA347596861 |
168 | R>P | No |
ClinGen TOPMed gnomAD |
|
CA51498991 rs1030746890 |
170 | S>G | No |
ClinGen TOPMed |
|
CA51498989 rs752167830 |
170 | S>N | No |
ClinGen ExAC gnomAD |
|
CA1754907 rs752167830 |
170 | S>T | No |
ClinGen ExAC gnomAD |
|
rs1174380674 CA347596841 |
171 | M>K | No |
ClinGen TOPMed |
|
rs1174380674 CA347596843 |
171 | M>R | No |
ClinGen TOPMed |
|
rs1425626815 CA347596845 |
171 | M>V | No |
ClinGen gnomAD |
|
rs770372979 CA1754906 |
173 | T>R | No |
ClinGen ExAC gnomAD |
|
rs1395927778 CA347596824 |
174 | V>I | No |
ClinGen TOPMed |
|
rs187776572 CA1754904 |
177 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA1754903 rs769862062 |
178 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
rs759708667 CA1754902 |
179 | E>K | No |
ClinGen ExAC gnomAD |
|
rs1253714888 CA347596747 |
186 | Y>S | No |
ClinGen TOPMed |
|
rs145470505 CA1754898 |
187 | K>R | No |
ClinGen ESP ExAC gnomAD |
|
TCGA novel | 187 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA347596726 rs1394978406 |
189 | G>R | No |
ClinGen gnomAD |
|
rs1309491307 CA347596702 |
192 | V>D | No |
ClinGen TOPMed gnomAD |
|
CA51498920 rs1049632455 |
192 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
rs1410811524 CA347596698 |
193 | V>F | No |
ClinGen gnomAD |
|
rs748849019 CA1754896 |
195 | V>F | No |
ClinGen ExAC gnomAD |
|
rs779455657 CA1754895 |
196 | G>R | No |
ClinGen ExAC gnomAD |
|
CA51498910 rs932283418 |
201 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
CA51498905 rs900837802 |
202 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
rs780881069 COSM364505 CA1754891 |
203 | Y>C | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
rs1483244464 CA347596621 |
206 | S>R | No |
ClinGen gnomAD |
|
rs894717636 CA51498847 |
208 | Y>C | No |
ClinGen TOPMed gnomAD |
|
CA1754888 rs764744831 |
208 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA1754887 rs758995400 |
209 | S>G | No |
ClinGen ExAC gnomAD |
|
CA347596567 rs745376249 CA1754873 |
212 | V>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC gnomAD NCI-TCGA |
rs745376249 CA347596568 |
212 | V>M | No |
ClinGen ExAC gnomAD |
|
CA347596553 rs1327996297 |
214 | Y>C | No |
ClinGen gnomAD |
|
CA1754872 rs780745612 |
214 | Y>H | No |
ClinGen ExAC gnomAD |
|
rs1235805014 CA347596548 |
215 | I>V | No |
ClinGen gnomAD |
|
CA347596529 rs1227879512 |
217 | S>L | No |
ClinGen TOPMed |
|
CA51497729 rs1054960475 |
218 | A>T | No |
ClinGen TOPMed |
|
rs1301153218 CA347596521 |
219 | L>P | No |
ClinGen gnomAD |
|
TCGA novel | 222 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA1754869 rs144117387 |
222 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs753157985 CA1754867 |
224 | W>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA1754865 rs367754154 |
225 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA1754866 rs367754154 |
225 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
COSM1023611 COSM122801 CA1754863 rs766640012 |
228 | E>K | upper_aerodigestive_tract Variant assessed as Somatic; 0.0 impact. endometrium [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
CA347596448 rs1433170972 |
229 | M>I | No |
ClinGen TOPMed |
|
rs1467388361 CA347596449 |
229 | M>T | No |
ClinGen gnomAD |
|
TCGA novel | 232 | E>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 234 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 235 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs763885273 CA1754860 |
239 | Q>H | No |
ClinGen ExAC gnomAD |
|
rs906171568 CA51497699 |
239 | Q>K | No |
ClinGen TOPMed |
|
rs773387179 CA1754861 |
239 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1253063852 CA347596364 |
242 | Q>* | No |
ClinGen gnomAD |
|
rs929014046 CA51497692 |
243 | K>N | No |
ClinGen TOPMed |
|
TCGA novel | 244 | T>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA1754857 rs769737215 |
246 | R>S | No |
ClinGen ExAC gnomAD |
|
COSM3364850 COSM3364851 CA347596321 rs1255725028 |
249 | G>R | kidney [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
rs1461250090 CA347596311 |
250 | P>L | No |
ClinGen TOPMed gnomAD |
|
rs1262034040 CA347596308 |
251 | R>C | No |
ClinGen gnomAD |
|
rs558872999 CA1754854 |
251 | R>H | No |
ClinGen ExAC gnomAD |
|
CA347596282 rs1225449831 |
255 | E>K | No |
ClinGen TOPMed |
|
rs774445301 CA51496677 |
261 | V>I | No |
ClinGen Ensembl |
|
CA347596213 rs1214543954 |
262 | G>V | No |
ClinGen gnomAD |
|
CA1754836 rs201704351 |
267 | R>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs773037976 CA1754835 |
268 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs773037976 CA347596175 |
268 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs748516671 CA1754833 |
269 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 271 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA347596133 rs1034090328 |
274 | T>A | No |
ClinGen TOPMed gnomAD |
|
CA347596130 rs1372248590 RCV001308350 |
274 | T>M | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1034090328 CA51496640 |
274 | T>S | No |
ClinGen TOPMed gnomAD |
|
CA1754831 rs567991599 |
276 | A>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs780485346 CA1754829 |
277 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA1754825 rs757517499 |
281 | S>I | No |
ClinGen ExAC gnomAD |
|
rs765112357 CA1754824 |
282 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 283 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1463949493 CA347596077 |
283 | F>V | No |
ClinGen TOPMed |
|
CA347596029 rs1228905306 |
289 | T>I | No |
ClinGen gnomAD |
|
CA347596031 rs1228905306 |
289 | T>K | No |
ClinGen gnomAD |
|
CA347596012 rs1230504276 |
292 | S>T | No |
ClinGen gnomAD |
|
TCGA novel | 293 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1351364166 CA534630083 |
293 | K>V | No |
ClinGen gnomAD |
|
TCGA novel | 294 | I>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1441214040 CA347595987 |
295 | I>T | No |
ClinGen gnomAD |
|
CA347595983 rs1352633666 |
296 | S>P | No |
ClinGen gnomAD |
|
rs376125904 CA1754818 |
297 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs772833023 CA1754817 |
298 | V>M | No |
ClinGen ExAC |
|
CA51496544 rs1014263422 |
300 | E>K | No |
ClinGen TOPMed |
|
CA1754816 rs771423097 |
302 | E>* | No |
ClinGen ExAC gnomAD |
|
rs773831879 CA1754814 |
303 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
rs773831879 CA347595936 |
303 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA347595927 COSM1690778 rs1473338839 COSM1690779 |
304 | A>V | Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
CA1754813 rs769083965 |
305 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs749626188 CA1754812 |
306 | M>K | No |
ClinGen ExAC gnomAD |
|
CA347595916 rs749626188 |
306 | M>R | No |
ClinGen ExAC gnomAD |
|
rs1320101113 CA347595899 |
308 | I>M | No |
ClinGen TOPMed |
|
CA1754811 rs780609524 |
308 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1468932809 CA347595903 |
308 | I>V | No |
ClinGen gnomAD |
|
CA1754810 rs770275798 |
309 | V>M | No |
ClinGen ExAC gnomAD |
|
rs191277311 CA347595892 |
310 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs781256167 CA1754808 |
312 | V>I | No |
ClinGen ExAC gnomAD |
|
CA1754807 rs757246219 |
313 | S>L | Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs563686568 CA1754805 |
314 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs1222983133 CA347595858 |
316 | D>H | No |
ClinGen gnomAD |
|
CA347595857 rs1222983133 |
316 | D>N | No |
ClinGen gnomAD |
|
CA1754804 rs754842136 |
318 | K>R | No |
ClinGen ExAC gnomAD |
|
CA347595824 rs1276515547 |
320 | M>T | No |
ClinGen TOPMed gnomAD |
|
CA51496481 rs993234315 |
321 | A>E | No |
ClinGen TOPMed |
|
CA347595802 rs1193957620 |
323 | S>T | No |
ClinGen TOPMed |
|
rs753681109 CA1754803 |
326 | G>A | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 327 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA1754800 rs370390181 |
330 | E>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA347595738 rs1157996080 |
332 | E>D | No |
ClinGen gnomAD |
|
CA1754799 rs121908570 |
332 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1169209411 CA347595722 |
334 | Q>H | No |
ClinGen TOPMed |
|
CA347595723 rs1427743527 |
334 | Q>R | No |
ClinGen gnomAD |
|
CA51496328 rs779996738 |
339 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA1754782 rs779996738 |
339 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs755930425 CA1754781 |
341 | S>F | No |
ClinGen ExAC gnomAD |
|
CA1754779 rs767330545 |
345 | L>F | No |
ClinGen ExAC gnomAD |
|
rs200315616 CA1754778 |
346 | K>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs200315616 CA1754777 |
346 | K>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA1754776 rs763604716 |
349 | K>E | No |
ClinGen ExAC gnomAD |
|
CA347595611 rs1294172310 |
350 | V>I | No |
ClinGen gnomAD |
|
rs1242428960 CA347595601 |
351 | I>S | No |
ClinGen TOPMed |
|
CA347595602 rs1242428960 |
351 | I>T | No |
ClinGen TOPMed |
|
CA347595593 rs1380818081 |
352 | P>L | No |
ClinGen gnomAD |
|
rs901651363 CA51496306 |
354 | S>R | No |
ClinGen TOPMed gnomAD |
|
CA347595576 rs1414546855 |
355 | L>F | No |
ClinGen gnomAD |
|
rs1374073234 CA347595565 |
356 | F>L | No |
ClinGen gnomAD |
|
rs1310368926 CA347595544 |
359 | T>R | No |
ClinGen gnomAD |
|
rs765614263 CA1754773 |
360 | S>N | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 360 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA347595520 rs1425646551 |
363 | S>P | No |
ClinGen TOPMed gnomAD |
|
CA347595495 rs1417492130 |
366 | D>V | No |
ClinGen TOPMed |
|
CA347595491 rs1485204178 |
367 | V>L | No |
ClinGen gnomAD |
|
rs771337239 CA1754769 |
369 | E>G | No |
ClinGen ExAC gnomAD |
|
CA347595477 rs1480894325 |
369 | E>K | No |
ClinGen TOPMed gnomAD |
|
TCGA novel | 370 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 370 | D>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1201810520 CA347595464 |
371 | E>K | No |
ClinGen gnomAD |
|
CA51496280 rs535701506 |
372 | E>D | No |
ClinGen gnomAD |
|
CA1754768 rs760865789 |
374 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs773177236 CA1754767 |
375 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1007871504 CA51496270 |
376 | E>A | No |
ClinGen Ensembl |
|
CA347595423 rs1290556322 |
377 | A>P | No |
ClinGen gnomAD |
|
rs1290556322 CA347595422 |
377 | A>T | No |
ClinGen gnomAD |
|
CA1754765 rs748410567 |
378 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 379 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1396329078 CA347595400 |
380 | G>V | No |
ClinGen gnomAD |
|
rs199822416 CA51496259 |
382 | T>I | No |
ClinGen 1000Genomes |
|
rs199822416 CA347595389 |
382 | T>K | No |
ClinGen 1000Genomes |
|
rs1054339837 CA51496252 |
386 | V>D | No |
ClinGen TOPMed |
|
rs1159411533 CA347595364 |
386 | V>I | No |
ClinGen gnomAD |
|
CA1754764 rs779224696 |
387 | Y>N | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1459503137 CA347595345 |
389 | G>R | No |
ClinGen gnomAD |
|
rs1253554833 CA347595323 |
390 | M>T | No |
ClinGen gnomAD |
|
CA1754739 rs146469659 |
392 | R>G | No |
ClinGen ESP ExAC gnomAD |
|
rs1674809495 RCV001343812 |
393 | G>D | No |
ClinVar dbSNP |
|
rs1558654231 CA347595289 |
395 | L>V | No |
ClinGen Ensembl |
|
CA347595282 rs1259281305 |
396 | Y>C | No |
ClinGen gnomAD |
|
rs1218098381 CA347595273 |
397 | L>R | No |
ClinGen TOPMed |
|
rs1349144870 CA347595266 |
398 | Q>H | No |
ClinGen gnomAD |
|
CA347595261 rs1573404121 |
399 | S>* | No |
ClinGen Ensembl |
|
rs1438799680 CA347595237 |
403 | I>S | No |
ClinGen TOPMed gnomAD |
|
rs1438799680 CA347595235 |
403 | I>T | No |
ClinGen TOPMed gnomAD |
|
CA347595221 rs1485843012 |
405 | E>D | No |
ClinGen TOPMed |
|
rs1558654210 CA347595209 |
407 | F>L | No |
ClinGen Ensembl |
|
TCGA novel | 407 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1319205117 CA347595195 |
409 | S>A | No |
ClinGen gnomAD |
|
rs777668213 CA1754738 |
410 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1387484778 CA347595189 |
410 | S>I | No |
ClinGen TOPMed |
|
CA1754737 rs757943925 |
411 | P>T | No |
ClinGen ExAC gnomAD |
|
rs1395595747 CA347595155 |
415 | E>A | No |
ClinGen gnomAD |
|
CA1754734 rs754599917 |
417 | V>A | No |
ClinGen ExAC gnomAD |
|
rs1162535354 CA347595122 |
420 | E>A | No |
ClinGen TOPMed |
|
rs947983532 CA347595106 |
422 | A>G | No |
ClinGen TOPMed gnomAD |
|
rs145427892 CA347595109 |
422 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1193307627 CA347595104 |
423 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
rs1446025106 CA347595087 |
425 | P>R | No |
ClinGen gnomAD |
|
CA51495183 rs868486408 |
427 | P>L | No |
ClinGen gnomAD |
|
CA51495184 rs866665157 |
427 | P>S | No |
ClinGen Ensembl |
|
CA1754732 rs766683603 |
428 | T>K | No |
ClinGen ExAC gnomAD |
|
rs1486242692 CA347595061 |
430 | K>E | No |
ClinGen gnomAD |
|
COSM1023607 rs761048614 CA1754731 COSM1023608 |
436 | H>Y | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
CA1754716 rs754468668 |
438 | P>R | No |
ClinGen ExAC gnomAD |
|
rs990293614 CA51494766 |
440 | R>I | No |
ClinGen gnomAD |
|
CA347594981 rs990293614 |
440 | R>K | No |
ClinGen gnomAD |
|
rs748913188 CA1754715 |
442 | P>R | No |
ClinGen ExAC gnomAD |
|
CA347594967 rs1385654135 |
443 | V>I | No |
ClinGen TOPMed |
|
CA347594903 rs1292403664 |
452 | K>E | No |
ClinGen gnomAD |
|
rs149737775 CA51494756 |
452 | K>R | No |
ClinGen ESP TOPMed gnomAD |
|
rs756471929 CA1754713 |
454 | L>P | No |
ClinGen ExAC gnomAD |
|
CA347594866 rs1329525666 |
457 | D>N | No |
ClinGen gnomAD |
|
rs1329525666 RCV001338039 |
457 | D>Y | No |
ClinVar dbSNP |
|
TCGA novel | 458 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 460 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 462 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1387709739 CA347594815 |
463 | E>D | No |
ClinGen TOPMed |
|
CA347594812 rs1381033306 |
464 | Y>H | No |
ClinGen TOPMed |
|
CA51494738 rs976327992 |
465 | S>G | No |
ClinGen TOPMed |
|
CA347594794 rs1383983021 |
466 | N>S | No |
ClinGen TOPMed |
|
CA347594787 rs1416724116 |
467 | G>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
rs1461603249 CA347594790 |
467 | G>S | No |
ClinGen gnomAD |
|
CA1754708 rs764107317 |
471 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
TCGA novel | 474 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1233965274 CA347594744 |
474 | Y>H | No |
ClinGen gnomAD |
|
rs1166606987 CA347594742 |
474 | Y>S | No |
ClinGen gnomAD |
|
CA51494737 rs966305598 |
475 | P>T | No |
ClinGen Ensembl |
|
CA1754691 rs147874614 |
478 | N>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA1754690 rs745450434 |
478 | N>S | No |
ClinGen ExAC |
|
CA51493754 rs921135222 |
479 | G>S | No |
ClinGen gnomAD |
|
rs757649885 CA1754688 |
481 | Y>F | No |
ClinGen ExAC gnomAD |
|
CA1754689 rs781716922 |
481 | Y>H | No |
ClinGen ExAC gnomAD |
|
CA1754686 rs764632909 |
483 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1284650063 CA347594668 |
484 | Y>H | No |
ClinGen gnomAD |
|
rs1223004994 CA347594660 |
485 | Y>D | No |
ClinGen gnomAD |
|
CA347594638 rs1223494806 |
488 | E>K | No |
ClinGen gnomAD |
|
rs758476728 CA1754685 |
489 | R>K | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 492 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA51493742 rs377071401 |
492 | R>Q | No |
ClinGen gnomAD |
|
rs965316271 CA51493737 |
494 | T>I | No |
ClinGen TOPMed |
|
rs765173142 CA1754683 |
495 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
CA347594570 rs1432389199 |
498 | V>I | No |
ClinGen TOPMed gnomAD |
|
rs754018614 CA1754681 |
499 | R>S | No |
ClinGen ExAC gnomAD |
|
rs564017955 CA1754680 |
501 | L>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA1754677 rs768630246 |
503 | N>D | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 508 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 509 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs762424772 CA1754675 |
509 | N>Y | No |
ClinGen ExAC gnomAD |
|
rs1188393423 CA347594477 |
511 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
CA347594453 rs1278900422 |
514 | D>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
CA1754673 rs769150243 |
516 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA347594439 rs1487226765 |
517 | L>I | No |
ClinGen gnomAD |
|
TCGA novel | 519 | L>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
RCV000722900 rs1558652960 |
519 | L>missing | No |
ClinVar dbSNP |
|
CA347594426 rs1282347047 |
519 | L>V | No |
ClinGen gnomAD |
|
TCGA novel | 520 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA1754672 rs745540061 |
520 | H>Y | No |
ClinGen ExAC gnomAD |
|
rs1414649675 CA347594406 |
521 | W>C | No |
ClinGen TOPMed |
|
TCGA novel | 522 | W>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs780972290 CA1754671 |
523 | K>N | No |
ClinGen ExAC gnomAD |
|
CA347594379 rs1223196466 |
525 | I>V | No |
ClinGen gnomAD |
|
rs200171164 CA1754669 |
528 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs1398538548 CA347594314 |
534 | I>M | No |
ClinGen gnomAD |
|
rs778201509 CA1754667 |
535 | A>T | No |
ClinGen ExAC gnomAD |
|
CA347594297 rs1434600602 |
537 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
rs1558652905 CA347594286 |
539 | I>F | No |
ClinGen Ensembl |
|
rs1034289372 CA51493616 |
541 | R>C | No |
ClinGen TOPMed gnomAD |
|
CA1754664 rs758957898 COSM1023604 COSM722931 |
541 | R>H | lung Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
rs758957898 CA347594272 |
541 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1429259695 CA347594271 |
542 | R>G | No |
ClinGen gnomAD |
|
CA347594265 rs1228918071 |
542 | R>S | No |
ClinGen TOPMed |
|
CA1754663 rs753078059 |
543 | L>F | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 544 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 546 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA1754662 rs779080859 |
547 | H>Q | No |
ClinGen ExAC gnomAD |
|
CA347594234 rs1326776600 |
547 | H>R | No |
ClinGen TOPMed |
|
rs894772982 CA51493608 |
547 | H>Y | No |
ClinGen TOPMed gnomAD |
|
CA1754661 rs755000762 |
548 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA347594227 rs755000762 |
548 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs766554136 CA1754659 |
549 | H>D | No |
ClinGen ExAC TOPMed gnomAD |
|
rs766554136 CA1754660 |
549 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
CA1754658 rs761661210 |
550 | R>K | No |
ClinGen ExAC gnomAD |
|
CA347594216 rs1254187256 |
550 | R>S | No |
ClinGen gnomAD |
|
TCGA novel | 552 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA1754633 rs758108455 |
553 | K>E | No |
ClinGen ExAC gnomAD |
|
CA51492063 rs113253152 |
553 | K>R | No |
ClinGen Ensembl |
|
CA347594145 rs1337754799 |
558 | Q>H | No |
ClinGen TOPMed |
|
rs1307924363 CA347594148 |
558 | Q>R | No |
ClinGen TOPMed |
|
CA1754631 rs765262030 |
561 | T>I | No |
ClinGen ExAC gnomAD |
|
rs752723076 CA1754632 |
561 | T>S | No |
ClinGen ExAC gnomAD |
|
rs759175402 CA1754630 |
563 | N>D | No |
ClinGen ExAC gnomAD |
|
CA1754629 rs776297256 |
563 | N>T | No |
ClinGen ExAC gnomAD |
|
CA347594098 rs1176222628 |
565 | Y>C | No |
ClinGen gnomAD |
|
rs765922890 CA1754628 |
565 | Y>H | No |
ClinGen ExAC gnomAD |
|
rs55791823 CA1754625 |
566 | D>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs772689343 CA1754626 |
566 | D>N | No |
ClinGen ExAC |
|
CA347594077 rs1348772635 |
569 | S>R | No |
ClinGen TOPMed |
|
rs1573399708 CA347594070 |
569 | S>R | No |
ClinGen Ensembl |
|
rs1353851715 CA347594063 |
571 | E>K | No |
ClinGen gnomAD |
|
CA1754622 rs139037041 |
572 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA1754621 rs749734822 |
573 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA347594043 rs756141427 |
574 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs756141427 CA1754619 |
574 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
CA1754617 rs781244752 |
577 | W>* | No |
ClinGen ExAC gnomAD |
|
CA1754618 rs746152711 |
577 | W>R | No |
ClinGen ExAC gnomAD |
|
CA347594007 rs1373832495 |
578 | N>K | No |
ClinGen Ensembl |
|
CA347594005 rs1456164712 |
579 | D>N | No |
ClinGen TOPMed |
|
COSM1023603 COSM1023602 CA347593984 rs1573399636 |
581 | K>N | endometrium [Cosmic] | No |
ClinGen cosmic curated Ensembl |
TCGA novel | 582 | N>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs776056726 | 582 | N>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
rs1031732785 CA51491996 |
585 | Y>S | No |
ClinGen TOPMed gnomAD |
|
CA1754613 rs754973185 |
588 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
CA347593922 rs371389672 |
589 | Y>* | No |
ClinGen ESP ExAC gnomAD |
|
CA347593867 rs1805164 |
597 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs761374228 CA1754590 |
601 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs367551388 CA1754589 |
601 | R>H | No |
ClinGen ESP ExAC gnomAD |
|
CA347593843 rs367551388 |
601 | R>L | No |
ClinGen ESP ExAC gnomAD |
|
CA347593833 rs1558650314 |
603 | G>D | No |
ClinGen Ensembl |
|
TCGA novel | 612 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1263885546 CA347593758 |
614 | V>I | No |
ClinGen TOPMed |
|
rs1025951513 CA51489981 |
618 | N>S | No |
ClinGen TOPMed |
|
CA1754587 rs763275495 |
620 | A>V | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 623 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA1754585 rs770192517 |
625 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA1754586 rs770192517 |
625 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs374308160 CA1754584 |
625 | R>H | No |
ClinGen ExAC gnomAD |
|
CA1754581 rs747258023 |
628 | N>K | No |
ClinGen ExAC gnomAD |
|
CA1754557 rs540704378 |
631 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA347593388 rs1233975926 |
632 | A>V | No |
ClinGen gnomAD |
|
rs1283246923 CA347593386 |
633 | R>Q | No |
ClinGen TOPMed |
|
COSM1409912 rs748318874 CA1754556 COSM1409913 |
633 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
rs1255091514 CA347593374 |
635 | K>E | No |
ClinGen TOPMed gnomAD |
|
CA347593355 rs1212032502 |
637 | M>I | No |
ClinGen TOPMed |
|
rs1288833379 CA347593349 |
638 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
rs180939276 CA1754552 |
639 | E>K | No |
ClinGen 1000Genomes ExAC |
|
CA1754549 rs777211078 |
641 | K>* | No |
ClinGen ExAC gnomAD |
|
rs1474386390 CA347593311 |
644 | A>D | No |
ClinGen TOPMed |
|
rs752306602 CA1754547 |
649 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 649 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA51487548 rs1031139865 |
657 | A>S | No |
ClinGen Ensembl |
|
CA51487541 rs1041632555 |
659 | L>I | No |
ClinGen TOPMed |
|
rs1415375926 CA347593204 |
660 | E>K | No |
ClinGen TOPMed |
|
rs142325107 CA1754543 |
661 | A>T | No |
ClinGen ESP ExAC |
|
CA1754542 rs760895791 |
662 | P>Q | No |
ClinGen ExAC gnomAD |
|
rs773438842 CA1754541 |
664 | E>Q | No |
ClinGen ExAC gnomAD |
|
CA347593164 rs1409352536 |
666 | W>R | No |
ClinGen gnomAD |
|
CA347593155 rs1336637096 |
667 | Q>E | No |
ClinGen TOPMed |
|
CA51487499 rs999686631 |
670 | M>L | No |
ClinGen TOPMed gnomAD |
|
CA1754540 rs767634201 |
670 | M>T | No |
ClinGen ExAC gnomAD |
|
CA1754538 rs774582330 |
673 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA347593093 rs1312383245 |
675 | L>R | No |
ClinGen Ensembl |
|
rs769523936 CA1754537 |
677 | D>G | No |
ClinGen ExAC gnomAD |
|
rs1245216593 CA347593081 |
677 | D>H | No |
ClinGen gnomAD |
|
rs745674404 CA1754536 |
679 | S>N | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 682 | W>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs770672534 CA1754517 |
684 | L>F | No |
ClinGen ExAC gnomAD |
|
rs746972131 CA1754516 |
685 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs773112872 CA1754515 |
686 | S>F | No |
ClinGen ExAC gnomAD |
|
CA51486711 rs867113140 |
690 | M>I | No |
ClinGen Ensembl |
|
rs1465588512 CA347592972 |
691 | D>G | No |
ClinGen gnomAD |
|
rs62157769 CA51486682 |
692 | A>V | No |
ClinGen gnomAD |
|
rs1466276004 CA347592962 |
693 | P>T | No |
ClinGen gnomAD |
|
rs974345812 CA51486670 |
695 | V>I | No |
ClinGen TOPMed gnomAD |
|
CA51486661 rs895611424 |
697 | I>V | No |
ClinGen Ensembl |
|
rs189064501 CA1754510 |
698 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs780592115 CA1754509 |
698 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA51486642 rs780592115 |
698 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 699 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA347592921 rs751013573 |
700 | M>K | No |
ClinGen ExAC gnomAD |
|
CA1754506 rs751013573 |
700 | M>T | No |
ClinGen ExAC gnomAD |
|
CA1754507 rs756493851 |
700 | M>V | No |
ClinGen ExAC gnomAD |
|
CA347592914 rs1233958215 |
701 | D>V | No |
ClinGen TOPMed |
|
CA347592881 rs1805165 COSM1205103 |
704 | A>T | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
rs542707362 CA51486635 |
705 | T>S | No |
ClinGen gnomAD |
|
CA1754503 rs764017694 |
706 | K>E | No |
ClinGen ExAC gnomAD |
|
rs570127757 CA1754502 |
707 | E>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA1754501 rs374554600 |
709 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA51486621 rs764085183 |
709 | I>V | No |
ClinGen Ensembl |
|
CA1754500 RCV001345768 rs766212381 |
712 | I>V | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
TCGA novel | 713 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs773198802 CA1754498 |
713 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 714 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs55861585 CA1754495 VAR_040478 |
716 | P>L | No |
ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
CA51486572 rs574976232 |
716 | P>S | No |
ClinGen ExAC gnomAD |
|
rs574976232 CA1754496 |
716 | P>T | No |
ClinGen ExAC gnomAD |
|
CA1754494 rs768007461 |
717 | Q>R | No |
ClinGen ExAC gnomAD |
|
CA51486556 rs201096232 |
718 | R>G | No |
ClinGen TOPMed |
|
CA347592681 rs779827181 CA1754493 |
718 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA1754490 rs746223755 |
719 | S>N | No |
ClinGen ExAC gnomAD |
|
CA1754491 rs770320288 |
719 | S>R | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 721 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs947040918 CA51486528 |
721 | S>Y | No |
ClinGen TOPMed gnomAD |
|
rs781644116 CA1754489 |
722 | F>S | No |
ClinGen ExAC gnomAD |
|
rs1236281507 CA347592600 |
724 | V>G | No |
ClinGen TOPMed |
|
CA1754486 rs777932006 |
726 | I>F | No |
ClinGen ExAC gnomAD |
|
CA1754487 rs777932006 |
726 | I>V | No |
ClinGen ExAC gnomAD |
|
rs1140819 CA51486508 |
727 | S>P | No |
ClinGen Ensembl |
|
rs758386944 CA1754485 |
728 | C>R | No |
ClinGen ExAC gnomAD |
|
CA1754484 rs752958536 |
731 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
CA347592510 rs752958536 |
731 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1346069423 CA347592433 |
737 | Q>E | No |
ClinGen TOPMed |
|
CA347592370 rs1309864268 |
742 | E>A | No |
ClinGen gnomAD |
|
CA347592359 rs1558648202 |
743 | F>L | No |
ClinGen Ensembl |
|
rs1573393261 CA347592313 |
746 | M>I | No |
ClinGen Ensembl |
|
CA347592299 rs1443330902 |
747 | D>G | No |
ClinGen gnomAD |
|
CA347592305 rs1329425023 |
747 | D>H | No |
ClinGen TOPMed gnomAD |
|
rs1329425023 CA347592307 |
747 | D>N | No |
ClinGen TOPMed gnomAD |
|
TCGA novel | 749 | E>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs774103568 CA1754478 |
751 | I>T | No |
ClinGen ExAC |
|
rs376905155 CA1754476 |
752 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA1754475 rs762335106 |
754 | S>* | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 754 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 755 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 756 | D>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA347592161 rs1558648168 |
756 | D>H | No |
ClinGen Ensembl |
|
CA347592132 rs1160426248 |
758 | A>P | No |
ClinGen gnomAD |
|
rs769586514 CA1754473 |
759 | Y>* | No |
ClinGen ExAC |
|
CA1754472 rs745450377 |
760 | N>D | No |
ClinGen ExAC gnomAD |
|
CA347592084 rs1379109787 |
761 | L>F | No |
ClinGen gnomAD |
|
CA1754470 rs771151381 |
764 | S>N | No |
ClinGen ExAC gnomAD |
|
rs747601591 CA1754469 |
764 | S>R | No |
ClinGen ExAC gnomAD |
|
CA1754468 rs778113344 |
766 | L>F | No |
ClinGen ExAC gnomAD |
|
CA1754467 rs758572014 |
767 | T>K | No |
ClinGen ExAC gnomAD |
|
rs758572014 CA347592000 |
767 | T>R | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 768 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA1754466 rs566226789 |
770 | D>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs933101367 CA51486374 |
774 | G>R | No |
ClinGen Ensembl |
|
CA347591893 rs1430430675 |
775 | T>N | No |
ClinGen Ensembl |
|
CA1754463 rs754018522 |
776 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
rs755197043 CA1754464 |
776 | M>K | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 778 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA347591868 rs1331889033 |
779 | N>D | No |
ClinGen gnomAD |
|
CA1754460 rs751553557 |
779 | N>K | No |
ClinGen ExAC gnomAD |
|
rs752973018 CA1754461 |
779 | N>S | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 780 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA347591850 COSM1023592 rs1365163126 COSM1023593 |
780 | D>Y | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
CA347591812 rs1420157803 |
782 | G>E | No |
ClinGen gnomAD |
|
CA51486342 rs866676281 |
784 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
rs762928284 CA1754458 |
786 | E>D | No |
ClinGen ExAC gnomAD |
|
CA347591744 rs1467191584 |
787 | L>F | No |
ClinGen gnomAD |
|
CA347591733 rs1197779008 |
788 | C>G | No |
ClinGen gnomAD |
|
CA347591730 rs1431121237 |
788 | C>Y | No |
ClinGen gnomAD |
|
rs976895681 CA51486334 |
791 | E>K | No |
ClinGen gnomAD |
|
rs1488218683 CA347591672 |
792 | A>V | No |
ClinGen gnomAD |
|
TCGA novel | 795 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs764803957 CA1754456 |
796 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
rs764803957 CA347591627 |
796 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1345857138 CA534630098 |
797 | R>T* | No |
ClinGen gnomAD |
|
CA347591593 rs1255608073 |
798 | S>L | No |
ClinGen gnomAD |
|
rs759288815 CA1754455 |
799 | R>K | No |
ClinGen ExAC gnomAD |
|
rs908796009 CA51486306 |
800 | E>D | No |
ClinGen Ensembl |
|
CA347591549 rs1573393050 |
802 | T>P | No |
ClinGen Ensembl |
|
CA347591542 rs1328430364 |
802 | T>S | No |
ClinGen TOPMed gnomAD |
|
CA347591502 rs1301049321 |
805 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
CA347591479 rs1558648052 |
807 | V>E | No |
ClinGen Ensembl |
|
TCGA novel | 807 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
COSM1647359 CA347591457 rs1279792355 COSM722934 |
809 | E>K | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
CA347591427 rs1558648042 |
810 | D>E | No |
ClinGen Ensembl |
|
CA1754454 rs776126535 |
811 | S>C | No |
ClinGen ExAC gnomAD |
|
rs1244497174 CA347591398 |
813 | C>G | No |
ClinGen TOPMed gnomAD |
|
rs1270797792 CA347591373 |
814 | D>E | No |
ClinGen TOPMed |
|
CA347591378 rs1232810293 |
814 | D>G | No |
ClinGen TOPMed |
|
CA1754452 rs569324630 |
816 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA347591337 rs1194194745 |
817 | S>F | No |
ClinGen TOPMed |
|
CA347591332 rs1397242777 |
818 | S>G | No |
ClinGen gnomAD |
|
rs1469352010 CA347591273 |
821 | E>D | No |
ClinGen TOPMed |
|
rs767541817 RCV001320118 |
821 | E>missing | No |
ClinVar dbSNP |
|
rs551274166 CA1754448 |
822 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs551274166 CA347591260 |
822 | P>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA1754449 rs551274166 |
822 | P>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA347591232 rs1432196367 |
825 | N>I | No |
ClinGen TOPMed |
|
CA1754445 rs755001234 |
826 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
CA347591223 COSM1023590 COSM1023591 rs1171816937 |
826 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
rs369837691 CA1754443 |
828 | H>L | No |
ClinGen ESP ExAC gnomAD |
|
CA1754444 rs369837691 |
828 | H>P | No |
ClinGen ESP ExAC gnomAD |
|
TCGA novel | 830 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA347591113 rs1261615597 |
830 | G>D | No |
ClinGen gnomAD |
|
CA347591051 rs1190282186 |
832 | H>R | No |
ClinGen gnomAD |
|
rs1474123036 CA347591005 |
833 | C>W | No |
ClinGen TOPMed |
|
rs1395104505 CA347590962 |
834 | A>V | No |
ClinGen TOPMed |
|
rs763883904 CA1754440 |
835 | N>S | No |
ClinGen ExAC gnomAD |
|
rs1198813637 CA347590947 |
835 | N>Y | No |
ClinGen gnomAD |
|
rs137868793 CA51486230 |
837 | L>I | No |
ClinGen ESP TOPMed gnomAD |
|
CA347590869 rs1317118350 |
837 | L>P | No |
ClinGen gnomAD |
|
rs1382624185 CA347590758 |
841 | K>N | No |
ClinGen TOPMed |
|
rs759089652 CA1754436 |
841 | K>Q | No |
ClinGen ExAC gnomAD |
|
rs776415401 CA1754435 |
842 | P>A | No |
ClinGen ExAC gnomAD |
|
CA347590690 rs1393852682 |
844 | S>G | No |
ClinGen gnomAD |
|
CA1754434 rs765936619 |
844 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
CA51486152 rs369602164 |
845 | S>T | No |
ClinGen ESP TOPMed gnomAD |
|
CA347590608 rs1573392867 |
846 | K>R | No |
ClinGen Ensembl |
|
rs1558647914 CA347590586 |
847 | S>F | No |
ClinGen Ensembl |
|
TCGA novel | 848 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1421873804 CA347590530 |
849 | S>F | No |
ClinGen gnomAD |
|
CA347590523 rs1558647902 |
850 | E>Q | No |
ClinGen Ensembl |
|
CA1754431 rs773451477 |
851 | A>V | No |
ClinGen ExAC gnomAD |
|
CA1754429 rs150135027 |
852 | T>I | No |
ClinGen ESP ExAC gnomAD |
|
CA347590395 rs1459173233 |
854 | S>C | No |
ClinGen gnomAD |
|
CA347590373 rs1356220658 |
855 | I>T | No |
ClinGen Ensembl |
|
rs1238993770 CA347590380 |
855 | I>V | No |
ClinGen TOPMed gnomAD |
|
rs768762794 CA1754427 |
857 | P>L | No |
ClinGen ExAC gnomAD |
|
rs1263404377 CA347590335 |
858 | P>A | No |
ClinGen TOPMed |
|
CA347590313 rs1444977556 |
859 | R>K | No |
ClinGen TOPMed |
|
rs1456637620 CA347590271 |
861 | T>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
rs200955126 CA1754426 |
862 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
TCGA novel | 863 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 867 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1356952939 CA347590095 |
870 | N>T | No |
ClinGen gnomAD |
|
CA347590022 rs1573392756 |
874 | K>E | No |
ClinGen Ensembl |
|
CA347590003 rs1162677725 |
875 | L>F | No |
ClinGen TOPMed |
|
rs1378539318 CA347589999 |
875 | L>R | No |
ClinGen gnomAD |
|
rs746064190 CA1754423 |
878 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1397688884 CA347589906 |
882 | V>L | No |
ClinGen TOPMed gnomAD |
|
rs1325927822 CA347589819 |
888 | M>I | No |
ClinGen gnomAD |
|
CA347589802 rs1387341784 |
889 | Q>H | No |
ClinGen TOPMed |
|
rs758246673 CA1754421 |
897 | K>E | No |
ClinGen ExAC gnomAD |
|
rs1380949636 CA347589640 |
900 | M>I | No |
ClinGen gnomAD |
|
rs1442109327 CA347589651 |
900 | M>V | No |
ClinGen gnomAD |
|
CA347589602 rs1438002291 COSM1752716 COSM1752717 |
903 | R>Q | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
CA347589595 rs752726105 |
904 | C>G | No |
ClinGen ExAC TOPMed gnomAD |
|
CA1754420 rs752726105 |
904 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1452006499 CA347589562 |
906 | I>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
rs1311165257 CA347589548 |
907 | E>G | No |
ClinGen TOPMed |
|
rs1289032685 CA347589541 |
908 | E>K | No |
ClinGen gnomAD |
|
rs754596362 CA1754418 |
909 | R>I | No |
ClinGen ExAC gnomAD |
|
CA347589476 rs1355808997 |
912 | S>N | No |
ClinGen gnomAD |
|
CA1754416 rs761829897 |
913 | V>M | Variant assessed as Somatic; 0.0001386 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA347589407 rs1437599611 |
917 | I>F | No |
ClinGen gnomAD |
|
rs1437599611 CA347589409 |
917 | I>V | No |
ClinGen gnomAD |
|
CA1754411 rs774904859 |
922 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA347589311 rs774904859 |
922 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs769136888 CA1754410 |
922 | A>V | No |
ClinGen ExAC gnomAD |
|
rs781534136 CA1754405 |
935 | H>D | No |
ClinGen ExAC gnomAD |
|
CA347588986 rs1488731167 |
936 | R>G | No |
ClinGen gnomAD |
|
CA347587449 rs1238631613 |
943 | I>V | No |
ClinGen gnomAD |
|
rs577767738 CA1754380 |
947 | M>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA347587368 rs1045936070 |
947 | M>R | No |
ClinGen TOPMed gnomAD |
|
CA51483554 rs1045936070 |
947 | M>T | No |
ClinGen TOPMed gnomAD |
|
rs781425137 CA51483538 |
949 | D>H | No |
ClinGen Ensembl |
|
rs745368997 CA1754378 |
950 | V>A | No |
ClinGen ExAC gnomAD |
|
CA1754379 rs755647253 |
950 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1558646384 CA347587207 |
956 | F>L | No |
ClinGen Ensembl |
|
CA347587169 rs1262362715 |
960 | T>A | No |
ClinGen TOPMed |
|
CA1754376 rs756905625 |
962 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
COSM1159223 rs1213285607 CA347587158 |
962 | M>V | pancreas [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
rs1256624277 CA347587109 |
968 | E>K | No |
ClinGen TOPMed |
|
CA347587101 rs1462526886 |
969 | Q>E | No |
ClinGen TOPMed |
|
rs1447475016 CA347587097 |
969 | Q>L | No |
ClinGen gnomAD |
|
CA1754375 rs751166753 |
970 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA347587077 rs1466354178 |
973 | T>A | No |
ClinGen gnomAD |
|
CA1754373 rs758759825 |
973 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
CA347587065 rs1558646340 |
975 | M>K | No |
ClinGen Ensembl |
|
CA1754369 rs372331748 |
976 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA51483443 rs764214778 |
980 | R>K | No |
ClinGen Ensembl |
|
rs1573389692 CA347587027 |
981 | H>Y | No |
ClinGen Ensembl |
|
CA51483416 rs918476097 |
982 | T>I | No |
ClinGen TOPMed |
|
rs918476097 CA347587018 |
982 | T>K | No |
ClinGen TOPMed |
|
TCGA novel | 984 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1240864656 CA347587004 |
984 | Q>H | No |
ClinGen gnomAD |
|
rs1158541478 CA347586998 |
985 | V>A | No |
ClinGen TOPMed |
|
rs368610114 CA1754367 |
987 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs200538775 CA1754366 |
991 | M>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1573389652 CA347586942 |
991 | M>T | No |
ClinGen Ensembl |
|
CA347586927 rs1257752880 |
992 | S>T | No |
ClinGen gnomAD |
|
TCGA novel | 995 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs148953825 CA1754356 |
996 | I>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs148953825 CA51473740 |
996 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs758752139 CA1754355 |
997 | H>Q | No |
ClinGen ExAC gnomAD |
|
CA51473726 rs986571206 |
998 | G>E | No |
ClinGen Ensembl |
|
CA347585377 rs1216835629 |
1000 | S>N | No |
ClinGen TOPMed |
|
CA347585369 rs1271254368 |
1001 | Y>C | No |
ClinGen TOPMed |
|
CA1754352 rs779084189 |
1003 | H>Q | No |
ClinGen ExAC gnomAD |
|
CA347585350 rs755543117 |
1004 | K>* | No |
ClinGen ExAC TOPMed gnomAD |
|
rs755543117 CA1754351 |
1004 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
rs754710304 CA51473714 |
1007 | I>V | No |
ClinGen gnomAD |
|
CA1754350 rs754345067 |
1010 | L>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1398272432 CA347585281 |
1015 | F>V | No |
ClinGen TOPMed gnomAD |
|
TCGA novel | 1019 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 1020 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1242197456 CA347585213 |
1024 | Q>R | No |
ClinGen TOPMed |
|
rs767767088 CA1754346 |
1026 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1184728974 CA347585193 |
1027 | R>G | No |
ClinGen TOPMed |
|
CA347585191 rs1369407813 |
1027 | R>K | No |
ClinGen gnomAD |
|
CA347585190 rs1369407813 |
1027 | R>T | No |
ClinGen gnomAD |
|
rs1199995541 CA347584461 |
1030 | T>S | No |
ClinGen gnomAD |
|
CA1754324 rs755369984 |
1032 | T>I | No |
ClinGen ExAC gnomAD |
|
CA51470973 rs995615422 |
1033 | D>Y | No |
ClinGen gnomAD |
|
COSM1637915 CA1754323 COSM1637914 rs374423016 |
1034 | V>I | bone [Cosmic] | No |
ClinGen cosmic curated ESP ExAC gnomAD |
CA51470957 rs146129461 |
1035 | R>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed gnomAD |
RCV000502635 rs750529763 CA347584352 |
1038 | K>N | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1194974239 CA347584359 |
1038 | K>R | No |
ClinGen gnomAD |
|
CA347584269 rs1433555672 |
1045 | Q>E | No |
ClinGen TOPMed |
|
rs1168679739 CA347584237 |
1047 | Y>C | No |
ClinGen TOPMed |
|
CA51470941 rs767840632 |
1047 | Y>H | No |
ClinGen Ensembl |
|
rs746319005 CA1754299 |
1052 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1378636412 CA347584084 |
1053 | M>T | No |
ClinGen TOPMed gnomAD |
|
rs141166027 CA1754298 |
1053 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA347584064 rs1268382711 |
1055 | Q>E | No |
ClinGen gnomAD |
|
CA1754297 rs757254462 |
1056 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA1754296 rs751877330 |
1062 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
TCGA novel | 1063 | M>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA1754295 rs764288224 |
1063 | M>T | No |
ClinGen ExAC gnomAD |
|
rs1449935403 CA347583987 |
1064 | E>V | No |
ClinGen gnomAD |
|
rs866814797 CA51470182 COSM79355 COSM1205102 |
1065 | R>* | ovary large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
TCGA novel | 1065 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA347583971 rs1332444284 |
1065 | R>Q | No |
ClinGen gnomAD |
|
rs1283080966 CA347583944 |
1067 | E>A | No |
ClinGen TOPMed |
|
rs1283080966 CA347583940 |
1067 | E>V | No |
ClinGen TOPMed |
|
CA347583905 rs1165452910 |
1069 | I>M | No |
ClinGen gnomAD |
|
CA347583911 rs1394933147 |
1069 | I>T | No |
ClinGen gnomAD |
|
TCGA novel | 1072 | I>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1458891483 CA347583856 |
1072 | I>T | No |
ClinGen gnomAD |
|
rs1209823230 CA347583793 |
1075 | A>V | No |
ClinGen TOPMed |
|
CA347583690 rs1182218596 |
1081 | D>G | No |
ClinGen gnomAD |
|
rs1270652878 CA347583658 |
1083 | P>A | No |
ClinGen TOPMed gnomAD |
|
TCGA novel | 1083 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA347583638 rs1454332345 |
1084 | G>E | No |
ClinGen TOPMed |
|
rs773099851 CA1754292 |
1086 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs766126107 CA1754291 |
1087 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1558640744 CA347583602 |
1087 | V>M | No |
ClinGen Ensembl |
|
CA1754290 rs143931342 |
1088 | L>R | No |
ClinGen ESP ExAC |
|
rs1413880878 CA347583572 |
1089 | R>K | No |
ClinGen TOPMed |
|
rs1329497693 CA347583561 |
1090 | Q>R | No |
ClinGen TOPMed |
|
rs773003685 CA1754289 |
1091 | R>K | No |
ClinGen ExAC |
|
CA347583546 rs1279814645 |
1092 | S>F | No |
ClinGen gnomAD |
|
rs765299033 CA51470133 |
1093 | R>C | No |
ClinGen TOPMed gnomAD |
|
COSM1409905 CA1754286 rs765878566 COSM1409904 |
1093 | R>H | large_intestine Variant assessed as Somatic; 9.239e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
rs376257254 CA1754285 |
1094 | S>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs768435755 CA1754284 |
1095 | L>M | No |
ClinGen ExAC gnomAD |
|
CA51470090 rs762080456 |
1096 | S>N | No |
ClinGen TOPMed gnomAD |
|
rs770232594 CA1754281 |
1098 | S>* | No |
ClinGen ExAC gnomAD |
|
rs770232594 CA1754282 |
1098 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
rs1200751163 CA347583421 |
1104 | R>I | No |
ClinGen gnomAD |
|
rs1490490578 CA347583408 |
1105 | Q>* | No |
ClinGen gnomAD |
|
CA1754277 rs747073375 |
1106 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1439859735 CA347583358 |
1108 | N>D | No |
ClinGen TOPMed |
|
CA51470041 rs1032902320 |
1109 | S>C | No |
ClinGen TOPMed |
|
CA1754275 rs145982613 RCV001297358 |
1110 | H>Q | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1558640665 CA347583316 |
1110 | H>R | No |
ClinGen Ensembl |
|
rs1468683841 CA347583269 |
1112 | P>L | No |
ClinGen TOPMed |
|
TCGA novel | 1113 | L>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA51470032 rs776812138 |
1114 | P>L | No |
ClinGen TOPMed |
|
rs1040042580 CA51470030 |
1115 | S>T | No |
ClinGen Ensembl |
|
CA894312208 rs1477421865 |
1117 | N>A | No |
ClinGen TOPMed |
|
rs752870446 CA1754274 |
1117 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
1 associated diseases with Q9NZJ5
[MIM: 226980]: Wolcott-Rallison syndrome (WRS)
A rare autosomal recessive disorder, characterized by permanent neonatal or early infancy insulin-dependent diabetes and, at a later age, epiphyseal dysplasia, osteoporosis, growth retardation and other multisystem manifestations, such as hepatic and renal dysfunctions, intellectual disability and cardiovascular abnormalities. {ECO:0000269|PubMed:10932183}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A rare autosomal recessive disorder, characterized by permanent neonatal or early infancy insulin-dependent diabetes and, at a later age, epiphyseal dysplasia, osteoporosis, growth retardation and other multisystem manifestations, such as hepatic and renal dysfunctions, intellectual disability and cardiovascular abnormalities. {ECO:0000269|PubMed:10932183}. Note=The disease is caused by variants affecting the gene represented in this entry.
Functions
Description | ||
---|---|---|
EC Number | 2.7.11.1 | Protein-serine/threonine kinases |
Subcellular Localization |
|
|
PANTHER Family | ||
PANTHER Subfamily | ||
PANTHER Protein Class | ||
PANTHER Pathway Category | No pathway information available |
7 GO annotations of cellular component
Name | Definition |
---|---|
cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
endoplasmic reticulum | The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached). |
endoplasmic reticulum membrane | The lipid bilayer surrounding the endoplasmic reticulum. |
integral component of endoplasmic reticulum membrane | The component of the endoplasmic reticulum membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
perinuclear region of cytoplasm | Cytoplasm situated near, or occurring around, the nucleus. |
9 GO annotations of molecular function
Name | Definition |
---|---|
ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
enzyme binding | Binding to an enzyme, a protein with catalytic activity. |
eukaryotic translation initiation factor 2alpha kinase activity | Catalysis of the reaction: ATP |
Hsp90 protein binding | +Binding to Hsp90 proteins, any of a group of heat shock proteins around 90kDa in size. |
identical protein binding | Binding to an identical protein or proteins. |
protein kinase activity | Catalysis of the phosphorylation of an amino acid residue in a protein, usually according to the reaction: a protein + ATP = a phosphoprotein + ADP. |
protein phosphatase binding | Binding to a protein phosphatase. |
protein serine kinase activity | Catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate. |
protein serine/threonine kinase activity | Catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate, and ATP + protein threonine = ADP + protein threonine phosphate. |
33 GO annotations of biological process
Name | Definition |
---|---|
activation of cysteine-type endopeptidase activity involved in apoptotic process | Any process that initiates the activity of the inactive enzyme cysteine-type endopeptidase in the context of an apoptotic process. |
angiogenesis | Blood vessel formation when new vessels emerge from the proliferation of pre-existing blood vessels. |
bone mineralization | The deposition of hydroxyapatite, a form of calcium phosphate with the formula Ca10(PO4)6(OH)2, in bone tissue. |
calcium-mediated signaling | Any intracellular signal transduction in which the signal is passed on within the cell via calcium ions. |
cellular response to amino acid starvation | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of deprivation of amino acids. |
cellular response to cold | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a cold stimulus, a temperature stimulus below the optimal temperature for that organism. |
cellular response to glucose starvation | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of deprivation of glucose. |
chondrocyte development | The process whose specific outcome is the progression of a chondrocyte over time, from its commitment to its mature state. Chondrocyte development does not include the steps involved in committing a chondroblast to a chondrocyte fate. |
eiF2alpha phosphorylation in response to endoplasmic reticulum stress | The addition of a phosphate group on to the translation initiation factor eIF2alpha, as a result of endoplasmic reticulum stress. |
endocrine pancreas development | The process whose specific outcome is the progression of the endocrine pancreas over time, from its formation to the mature structure. The endocrine pancreas is made up of islet cells that produce insulin, glucagon and somatostatin. |
endoplasmic reticulum organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of the endoplasmic reticulum. |
endoplasmic reticulum unfolded protein response | The series of molecular signals generated as a consequence of the presence of unfolded proteins in the endoplasmic reticulum (ER) or other ER-related stress; results in changes in the regulation of transcription and translation. |
ER overload response | The series of molecular signals initiated by the accumulation of normal or misfolded proteins in the endoplasmic reticulum and leading to activation of transcription by NF-kappaB. |
insulin-like growth factor receptor signaling pathway | The series of molecular signals initiated by a ligand binding to an insulin-like growth factor receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription. |
negative regulation of myelination | Any process that stops, prevents, or reduces the frequency, rate or extent of the formation of a myelin sheath around nerve axons. |
negative regulation of translation | Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of proteins by the translation of mRNA or circRNA. |
negative regulation of translation in response to stress | Any process that stops, prevents or reduces the rate of translation as a result of a stimulus indicating the organism is under stress. |
negative regulation of translational initiation in response to stress | Any process that stops, prevents or reduces the rate of translation initiation as a result of a stimulus indicating the organism is under stress. |
ossification | The formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance. |
peptidyl-serine phosphorylation | The phosphorylation of peptidyl-serine to form peptidyl-O-phospho-L-serine. |
PERK-mediated unfolded protein response | The series of molecular signals mediated by the endoplasmic reticulum membrane stress sensor PERK (PKR-like ER kinase). Begins with activation of PERK in response to endoplasmic reticulum (ER) stress and ends with regulation of a downstream cellular process, e.g. transcription. The main substrate of PERK is the translation initiation factor eIF2alpha. Serine-phosphorylation of eIF2alpha by PERK inactivates eIF2alpha and inhibits general protein translation. In addition, eIF2alpha phosphorylation preferentially increases the translation of selective mRNAs such as ATF4 (activating transcription factor 4), which up regulates a subset of UPR genes required to restore folding capacity. |
positive regulation of gene expression | Any process that increases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA). |
positive regulation of protein localization to nucleus | Any process that activates or increases the frequency, rate or extent of protein localization to nucleus. |
positive regulation of transcription by RNA polymerase I | Any process that activates or increases the frequency, rate or extent of transcription mediated by RNA polymerase I. |
positive regulation of vascular endothelial growth factor production | Any process that increases or activates the frequency, rate, or extent of production of vascular endothelial growth factor. |
protein autophosphorylation | The phosphorylation by a protein of one or more of its own amino acid residues (cis-autophosphorylation), or residues on an identical protein (trans-autophosphorylation). |
protein phosphorylation | The process of introducing a phosphate group on to a protein. |
regulation of endoplasmic reticulum stress-induced eIF2 alpha phosphorylation | Any process that modulates the rate, frequency, or extent of eIF2 alpha phosphorylation as a cellular response to endoplasmic reticulum stress. |
regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway | Any process that modulates the frequency, rate or extent of an endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway. |
regulation of translational initiation by eIF2 alpha phosphorylation | Any process that modulates the frequency, rate or extent of translation initiation in response to stress by the phosphorylation of eIF2 alpha. |
response to endoplasmic reticulum stress | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stress acting at the endoplasmic reticulum. ER stress usually results from the accumulation of unfolded or misfolded proteins in the ER lumen. |
response to manganese-induced endoplasmic reticulum stress | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of endoplasmic reticulum stress caused by a manganese stimulus. |
skeletal system development | The process whose specific outcome is the progression of the skeleton over time, from its formation to the mature structure. The skeleton is the bony framework of the body in vertebrates (endoskeleton) or the hard outer envelope of insects (exoskeleton or dermoskeleton). |
5 homologous proteins in AiPD
UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
---|---|---|---|---|
P30291 | WEE1 | Wee1-like protein kinase | Homo sapiens (Human) | PR |
Q9P2K8 | EIF2AK4 | eIF-2-alpha kinase GCN2 | Homo sapiens (Human) | EV |
Q99640 | PKMYT1 | Membrane-associated tyrosine- and threonine-specific cdc2-inhibitory kinase | Homo sapiens (Human) | PR |
P19525 | EIF2AK2 | Interferon-induced, double-stranded RNA-activated protein kinase | Homo sapiens (Human) | PR |
Q9T014 | SPA2 | Protein SPA1-RELATED 2 | Arabidopsis thaliana (Mouse-ear cress) | PR |
10 | 20 | 30 | 40 | 50 | 60 |
MERAISPGLL | VRALLLLLLL | LGLAARTVAA | GRARGLPAPT | AEAAFGLGAA | AAPTSATRVP |
70 | 80 | 90 | 100 | 110 | 120 |
AAGAVAAAEV | TVEDAEALPA | AAGEQEPRGP | EPDDETELRP | RGRSLVIIST | LDGRIAALDP |
130 | 140 | 150 | 160 | 170 | 180 |
ENHGKKQWDL | DVGSGSLVSS | SLSKPEVFGN | KMIIPSLDGA | LFQWDQDRES | METVPFTVES |
190 | 200 | 210 | 220 | 230 | 240 |
LLESSYKFGD | DVVLVGGKSL | TTYGLSAYSG | KVRYICSALG | CRQWDSDEME | QEEDILLLQR |
250 | 260 | 270 | 280 | 290 | 300 |
TQKTVRAVGP | RSGNEKWNFS | VGHFELRYIP | DMETRAGFIE | STFKPNENTE | ESKIISDVEE |
310 | 320 | 330 | 340 | 350 | 360 |
QEAAIMDIVI | KVSVADWKVM | AFSKKGGHLE | WEYQFCTPIA | SAWLLKDGKV | IPISLFDDTS |
370 | 380 | 390 | 400 | 410 | 420 |
YTSNDDVLED | EEDIVEAARG | ATENSVYLGM | YRGQLYLQSS | VRISEKFPSS | PKALESVTNE |
430 | 440 | 450 | 460 | 470 | 480 |
NAIIPLPTIK | WKPLIHSPSR | TPVLVGSDEF | DKCLSNDKFS | HEEYSNGALS | ILQYPYDNGY |
490 | 500 | 510 | 520 | 530 | 540 |
YLPYYKRERN | KRSTQITVRF | LDNPHYNKNI | RKKDPVLLLH | WWKEIVATIL | FCIIATTFIV |
550 | 560 | 570 | 580 | 590 | 600 |
RRLFHPHPHR | QRKESETQCQ | TENKYDSVSG | EANDSSWNDI | KNSGYISRYL | TDFEPIQCLG |
610 | 620 | 630 | 640 | 650 | 660 |
RGGFGVVFEA | KNKVDDCNYA | IKRIRLPNRE | LAREKVMREV | KALAKLEHPG | IVRYFNAWLE |
670 | 680 | 690 | 700 | 710 | 720 |
APPEKWQEKM | DEIWLKDEST | DWPLSSPSPM | DAPSVKIRRM | DPFATKEHIE | IIAPSPQRSR |
730 | 740 | 750 | 760 | 770 | 780 |
SFSVGISCDQ | TSSSESQFSP | LEFSGMDHED | ISESVDAAYN | LQDSCLTDCD | VEDGTMDGND |
790 | 800 | 810 | 820 | 830 | 840 |
EGHSFELCPS | EASPYVRSRE | RTSSSIVFED | SGCDNASSKE | EPKTNRLHIG | NHCANKLTAF |
850 | 860 | 870 | 880 | 890 | 900 |
KPTSSKSSSE | ATLSISPPRP | TTLSLDLTKN | TTEKLQPSSP | KVYLYIQMQL | CRKENLKDWM |
910 | 920 | 930 | 940 | 950 | 960 |
NGRCTIEERE | RSVCLHIFLQ | IAEAVEFLHS | KGLMHRDLKP | SNIFFTMDDV | VKVGDFGLVT |
970 | 980 | 990 | 1000 | 1010 | 1020 |
AMDQDEEEQT | VLTPMPAYAR | HTGQVGTKLY | MSPEQIHGNS | YSHKVDIFSL | GLILFELLYP |
1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
FSTQMERVRT | LTDVRNLKFP | PLFTQKYPCE | YVMVQDMLSP | SPMERPEAIN | IIENAVFEDL |
1090 | 1100 | 1110 | |||
DFPGKTVLRQ | RSRSLSSSGT | KHSRQSNNSH | SPLPSN |