P52630
PR
Gene name |
STAT2 |
Protein name |
Signal transducer and activator of transcription 2 |
Names |
p113 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:6773 |
EC number |
|
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
551 variants for P52630
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV002533935 rs1565660719 CA385264280 RCV003224426 RCV000768098 |
12 | S>G | Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA6630967 RCV001070160 rs761370532 |
16 | D>G | Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001208734 rs1879530120 |
36 | A>T | Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000690233 rs144812882 CA6630959 |
37 | V>F | Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA6630958 rs757152982 RCV000545981 |
39 | I>T | Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1258502384 RCV001220034 CA385264075 |
42 | Q>K | Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1879498369 RCV001247040 |
45 | Q>H | Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection [ClinVar] | Yes |
ClinVar dbSNP |
|
CA6630924 RCV000802910 rs150901100 RCV000788163 RCV003117577 |
84 | Q>K | Susceptibility to severe COVID-19 Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001257209 rs746815427 CA6630922 COSM1493023 |
92 | R>W | kidney Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs367793690 CA6630902 RCV001233807 |
99 | Q>H | Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000698784 CA6630897 rs199890161 |
111 | L>F | Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001049114 CA385263557 rs1592490011 |
114 | E>K | Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1264238680 RCV000537418 CA385263403 |
134 | L>F | Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001230385 CA6630875 rs753806117 |
135 | E>K | Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001210593 rs758869093 CA6630873 |
140 | S>G | Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA6630871 RCV001223533 rs372975661 |
143 | H>Q | Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
VAR_084450 rs1879360038 RCV002032445 RCV001156646 |
148 | R>Q | Pseudo-TORCH syndrome 3 Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection PTORCH3; increased cellular sensitivity to type I IFNs; fails to appropriately traffic USP18 thereby preventing USP18 to inhibit responses to IFN-I [ClinVar, UniProt] | Yes |
ClinVar dbSNP UniProt |
|
VAR_084451 rs1458224681 CA385263308 RCV001249565 |
148 | R>W | Pseudo-TORCH syndrome 3 PTORCH3; increased cellular sensitivity to type I IFNs; loss of interaction with USP18 thereby preventing USP18 to inhibit responses to IFN-I [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
CA385263074 RCV000807124 rs1592489044 |
180 | Q>E | Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1879265080 RCV001352223 |
189 | D>E | Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000818829 rs143159503 CA6630782 |
232 | L>M | Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001214005 CA6630777 rs758745819 |
242 | Q>E | Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA6630774 RCV001059695 VAR_052072 rs2228259 |
246 | C>S | Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001304261 rs1878461729 |
263 | T>I | Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1878457865 RCV001330058 |
274 | Q>* | Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001342850 rs754287605 |
292 | P>A | Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection [ClinVar] | Yes |
ClinVar dbSNP |
|
rs141205552 CA6630733 RCV001066159 |
302 | A>T | Variant assessed as Somatic; 0.0 impact. Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1259353788 CA385262099 RCV001337235 |
324 | M>L | Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000791837 RCV000190677 COSM191917 CA214609 rs149666262 |
330 | R>Q | lung Variant assessed as Somatic; 0.0 impact. large_intestine Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection Inborn genetic diseases [Cosmic, NCI-TCGA, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001059694 CA385261895 rs1432107994 |
354 | N>S | Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs771226498 CA6630663 RCV003166272 RCV000808355 |
363 | I>T | Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000907041 rs142439434 CA6630640 |
371 | Q>E | Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000695815 rs779466832 CA6630562 |
432 | S>G | Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000652751 rs146115536 CA6630560 COSM3704287 |
434 | T>M | liver Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000560792 VAR_014898 rs2066815 CA6630534 |
448 | T>M | Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs766306027 RCV000703937 CA6630532 |
449 | D>N | Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs2066811 RCV000534703 VAR_014899 CA6630526 |
464 | I>V | Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA6630496 RCV000948896 RCV002546016 rs750338004 |
488 | P>A | Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs138681270 RCV001048902 CA6630492 |
489 | P>H | Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000802302 RCV003117576 RCV000788162 rs138681270 CA6630491 |
489 | P>L | Susceptibility to severe COVID-19 Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1877953548 RCV001070574 |
536 | L>missing | Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1877950590 RCV001059438 |
538 | W>R | Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1877949552 RCV001349708 |
540 | D>N | Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection [ClinVar] | Yes |
ClinVar dbSNP |
|
CA6630433 RCV000806496 rs143700674 |
565 | H>Y | Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000652752 CA385260186 rs200944055 |
576 | R>L | Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1490818178 RCV001344062 CA385260148 |
582 | S>N | Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001203392 CA6630405 rs201461349 |
588 | R>W | Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA6630402 RCV001342111 rs753344785 |
589 | L>P | Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
VAR_014901 CA6630398 rs2066807 RCV000559305 RCV000455792 |
594 | M>I | Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1877554115 RCV001241439 |
599 | L>missing | Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection [ClinVar] | Yes |
ClinVar dbSNP |
|
CA6630391 RCV001061575 rs746061720 |
608 | G>A | Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1592468046 RCV000816111 |
610 | I>missing | Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection [ClinVar] | Yes |
ClinVar dbSNP |
|
rs781522558 CA214659 RCV000202385 |
612 | C>* | Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs151170889 RCV000691263 CA237646398 |
622 | K>Q | Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
rs747243330 CA6630370 RCV000788167 RCV002535768 |
625 | I>F | Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001040166 CA385259795 rs1278719364 |
635 | V>M | Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001209794 CA6630361 rs751279183 |
641 | L>P | Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs775996290 RCV000700216 |
654 | E>missing | Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection [ClinVar] | Yes |
ClinVar dbSNP |
|
CA6630351 RCV001297508 rs773618917 |
662 | R>H | Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1565648608 RCV000701416 CA385259590 |
667 | R>* | Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002480423 CA6630347 rs200606416 RCV001066299 |
667 | R>Q | Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000652750 CA6630346 rs199528062 RCV000788168 |
668 | I>M | Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA385259574 rs1330342244 RCV001319190 |
670 | R>W | Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA385259524 RCV000813545 rs1592467176 |
677 | Y>C | Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001043810 CA385259444 rs1196807040 |
687 | R>Q | Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA6630324 rs746480042 RCV001321281 |
687 | R>W | Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001345666 rs1876989869 |
711 | E>missing | Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection [ClinVar] | Yes |
ClinVar dbSNP |
|
CA237645173 rs955030312 RCV000805508 |
731 | P>S | Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
COSM48776 CA6630283 RCV001316756 rs760470820 |
746 | D>H | lung Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD |
|
CA6630282 RCV001295286 rs779990362 |
747 | L>M | Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA6630278 rs757246041 RCV001212070 |
757 | S>P | Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs764242664 CA6630276 RCV001296182 |
762 | V>M | Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs768593805 CA6630247 RCV001048561 |
817 | P>L | Variant assessed as Somatic; 0.0 impact. Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA658658160 rs1555169006 RCV000537740 |
825 | G>C | Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs113083644 RCV001204786 CA6630242 |
825 | G>D | Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
VAR_019213 CA6630241 RCV002263813 RCV000548114 rs2229363 |
826 | Q>H | Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001343134 CA6630239 rs144221064 |
829 | V>M | Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000810908 rs755127513 CA6630238 |
831 | E>K | Variant assessed as Somatic; 0.0 impact. Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
rs752192658 CA6630231 RCV000798430 |
836 | R>C | Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000810155 rs759254318 CA6630230 |
836 | R>H | Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1356843849 CA385258418 RCV000793646 |
842 | T>N | Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA6630972 rs200501174 |
2 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6630966 rs761370532 |
16 | D>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761370532 CA385264248 |
16 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA237656097 rs986985108 |
16 | D>Y | No |
ClinGen Ensembl |
|
| TCGA novel | 18 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA385264228 rs374722858 |
19 | H>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374722858 CA6630965 |
19 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1323204124 CA385264221 |
20 | Q>R | No |
ClinGen TOPMed |
|
|
CA385264214 rs1245963214 |
21 | L>H | No |
ClinGen TOPMed |
|
|
rs1592491377 CA385264192 |
24 | H>L | No |
ClinGen Ensembl |
|
|
CA6630962 rs779641230 |
29 | V>E | No |
ClinGen ExAC gnomAD |
|
|
CA6630961 COSM3417005 rs769566394 |
32 | R>* | large_intestine Variant assessed as Somatic; 0.000231 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA385264144 rs769566394 |
32 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs745665410 CA6630960 |
35 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA385264112 rs144812882 |
37 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 37 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1258502384 CA385264074 |
42 | Q>E | No |
ClinGen TOPMed |
|
|
CA385264061 rs1182244325 |
43 | N>K | No |
ClinGen gnomAD |
|
|
CA6630937 rs758442457 |
47 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA237655855 rs891522062 |
50 | G>R | No |
ClinGen TOPMed |
|
|
CA385263998 rs1323428827 |
51 | S>N | No |
ClinGen gnomAD |
|
|
rs1290391826 CA385263992 |
52 | D>N | No |
ClinGen gnomAD |
|
|
CA385263956 rs1409348158 |
57 | T>A | No |
ClinGen TOPMed |
|
|
CA6630934 rs755128109 |
57 | T>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 60 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1367392125 CA385263904 |
64 | L>S | No |
ClinGen gnomAD |
|
|
VAR_014896 CA237655820 rs2066816 |
66 | Q>H | No |
ClinGen UniProt Ensembl dbSNP |
|
|
CA6630930 rs750894216 |
71 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA385263848 rs1318186936 |
72 | G>S | No |
ClinGen gnomAD |
|
|
COSM1677092 rs768151761 CA6630929 |
73 | R>C | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs375433807 CA6630928 |
73 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA385263839 rs375433807 |
73 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs908642020 CA237655796 |
75 | S>N | No |
ClinGen Ensembl |
|
|
CA385263803 rs774830295 |
78 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6630927 rs774830295 |
78 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764849880 CA6630926 |
79 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs759097133 CA6630925 |
80 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6630923 rs138926222 |
88 | R>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
rs189335310 CA237655767 |
90 | F>S | No |
ClinGen 1000Genomes TOPMed |
|
|
rs146096134 CA385263713 |
92 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs146096134 CA6630921 |
92 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA385263699 rs1340098251 |
94 | I>T | No |
ClinGen gnomAD |
|
|
rs575284381 CA6630905 |
97 | F>I | No |
ClinGen 1000Genomes ExAC |
|
|
CA6630904 rs142832877 |
97 | F>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA385263660 rs1294214696 |
98 | S>F | No |
ClinGen gnomAD |
|
|
CA385263662 rs1294214696 |
98 | S>Y | No |
ClinGen gnomAD |
|
|
rs774417394 CA237655508 |
100 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6630901 rs774417394 |
100 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6630900 rs768555442 |
101 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1377345418 CA385263631 |
103 | Q>P | No |
ClinGen gnomAD |
|
|
rs563355373 CA6630898 |
107 | M>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 117 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA385263517 rs1427792622 |
119 | L>S | No |
ClinGen gnomAD |
|
|
CA385263513 rs1391968116 |
120 | I>V | No |
ClinGen gnomAD |
|
|
rs781396589 CA6630895 |
124 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs1245063187 CA385263477 |
125 | A>P | No |
ClinGen TOPMed |
|
|
rs537645066 CA6630878 |
128 | E>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6630877 rs776916090 |
129 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385263435 rs1267651384 |
129 | Q>R | No |
ClinGen gnomAD |
|
|
CA385263398 rs753806117 |
135 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778099021 CA6630874 |
138 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs978513029 CA237655311 |
140 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA385263367 rs758869093 |
140 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA385263341 rs1388461421 |
143 | H>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 152 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6630870 rs755691354 |
153 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6630868 COSM941660 rs767217369 |
155 | M>T | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1473365042 CA385263264 |
155 | M>V | No |
ClinGen gnomAD |
|
|
CA385263251 rs1592489402 |
156 | M>I | No |
ClinGen Ensembl |
|
|
rs1197519321 CA385263253 |
156 | M>T | No |
ClinGen gnomAD |
|
|
CA385263219 rs1200821507 |
159 | L>V | No |
ClinGen TOPMed |
|
|
CA6630850 rs756904021 |
163 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA6630848 rs763974330 |
166 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA385263168 rs1278228607 |
167 | K>E | No |
ClinGen gnomAD |
|
|
rs752623685 CA6630846 |
169 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs945706789 CA237655057 |
172 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA6630844 rs759490169 |
177 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6630842 rs766415320 |
178 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA6630841 rs760935390 |
181 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1242261257 CA385263026 |
185 | T>A | No |
ClinGen TOPMed |
|
|
rs1482155277 CA385263023 |
185 | T>I | No |
ClinGen TOPMed |
|
|
rs545381204 CA237654809 |
186 | P>S | No |
ClinGen Ensembl |
|
|
rs750586683 CA6630822 |
187 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1254058764 CA385262984 |
192 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1427401724 CA385262972 |
193 | T>I | No |
ClinGen TOPMed |
|
|
CA237654801 rs896083809 |
194 | K>R | No |
ClinGen Ensembl |
|
|
rs762129965 CA6630820 |
197 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA232255 RCV000122521 rs386352367 |
200 | Q>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs768953916 CA6630818 |
202 | T>I | No |
ClinGen ExAC |
|
| TCGA novel | 202 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6630817 rs763506452 |
204 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs1430940937 CA385262900 |
204 | N>S | No |
ClinGen TOPMed |
|
|
CA6630816 rs775863138 |
207 | D>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 211 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1391141866 CA385262833 |
212 | E>K | No |
ClinGen gnomAD |
|
|
CA385262825 rs1160054168 |
213 | V>L | No |
ClinGen gnomAD |
|
|
CA6630790 rs774840817 |
215 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs760160234 CA6630791 |
215 | D>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 218 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1193099859 CA385262785 |
219 | A>V | No |
ClinGen gnomAD |
|
|
CA237654623 rs2066817 VAR_014897 |
220 | L>P | No |
ClinGen UniProt dbSNP gnomAD |
|
|
rs747796808 CA6630788 |
221 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1216776022 CA385262769 |
223 | R>* | No |
ClinGen gnomAD |
|
|
rs867431348 CA237654607 |
223 | R>Q | No |
ClinGen gnomAD |
|
|
CA385262753 rs1592487407 |
226 | T>P | No |
ClinGen Ensembl |
|
|
CA6630784 rs780001428 |
229 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs200581403 CA6630785 |
229 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1372341286 CA385262706 |
234 | K>R | No |
ClinGen gnomAD |
|
|
rs1324949275 CA385262698 |
235 | L>S | No |
ClinGen gnomAD |
|
| TCGA novel | 236 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6630781 rs781239655 |
236 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA6630779 rs751721242 |
237 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs764242747 CA6630778 |
238 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA237654587 rs1000265616 |
240 | A>S | No |
ClinGen gnomAD |
|
|
CA385262664 rs1000265616 |
240 | A>T | No |
ClinGen gnomAD |
|
|
CA385262649 rs376036648 |
242 | Q>P | No |
ClinGen ESP ExAC gnomAD |
|
|
rs376036648 CA6630776 |
242 | Q>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1435365538 CA385262640 |
243 | Q>L | No |
ClinGen gnomAD |
|
|
CA6630775 rs372512615 |
245 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA237654572 rs2228259 |
246 | C>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA385262621 rs2228259 |
246 | C>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs757619953 CA237654569 |
249 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs767067626 CA6630772 |
253 | H>D | No |
ClinGen ExAC |
|
|
rs1482708314 CA385262569 |
254 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs774007338 CA6630770 |
254 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 254 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs775130617 CA6630767 |
261 | W>G | No |
ClinGen ExAC gnomAD |
|
|
rs1472609617 CA385262497 |
262 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA385262486 rs1407977150 |
264 | A>G | No |
ClinGen gnomAD |
|
| TCGA novel | 264 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs866884145 CA237652783 |
266 | A>S | No |
ClinGen Ensembl |
|
|
RCV000788134 rs1592478832 |
269 | L>missing | No |
ClinVar dbSNP |
|
|
rs770821354 CA6630746 |
271 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1217515712 CA385262437 |
272 | L>V | No |
ClinGen TOPMed |
|
|
rs1241661211 CA385262417 |
275 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA237652777 rs910154908 |
277 | K>R | No |
ClinGen TOPMed |
|
|
CA385262399 rs1457224890 |
278 | E>* | No |
ClinGen gnomAD |
|
|
CA385262396 rs1347844782 |
278 | E>V | No |
ClinGen gnomAD |
|
|
rs747011687 CA6630745 |
281 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA385262370 rs369922024 |
283 | S>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA385262368 rs1193012479 |
283 | S>N | No |
ClinGen TOPMed |
|
|
CA6630744 rs369922024 |
283 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6630743 rs772259730 |
286 | V>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 287 | S>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6630742 rs748250726 |
288 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs779289776 CA6630741 |
289 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs755347509 CA6630740 |
289 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6630739 rs754287605 |
292 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1592478668 CA385262288 |
295 | K>R | No |
ClinGen Ensembl |
|
|
CA385262279 rs1160190945 |
296 | G>E | No |
ClinGen TOPMed |
|
|
CA6630737 rs756557788 |
297 | V>M | No |
ClinGen ExAC |
|
|
CA6630735 rs573888623 |
300 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1241317788 CA385262258 |
300 | R>H | No |
ClinGen gnomAD |
|
|
CA385262205 rs1273676043 |
308 | L>P | No |
ClinGen TOPMed |
|
|
CA385262200 rs1486252758 |
309 | Q>* | No |
ClinGen TOPMed |
|
|
CA6630728 rs760526213 |
309 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6630727 rs773204330 |
310 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs374561860 CA237652701 |
310 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed |
|
CA385262184 rs1278532520 |
312 | L>F | No |
ClinGen Ensembl |
|
|
CA6630726 rs771987035 |
313 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774550841 CA6630705 |
315 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV001092489 rs1878411313 |
316 | F>missing | No |
ClinVar dbSNP |
|
|
CA385262139 rs1205254900 |
317 | V>L | No |
ClinGen TOPMed |
|
|
rs578079694 CA237652550 |
320 | T>N | No |
ClinGen 1000Genomes |
|
|
CA6630704 rs768915623 |
321 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749521353 CA6630703 COSM1178337 |
321 | Q>H | prostate [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs775863585 CA6630702 |
322 | P>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 322 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs746269128 CA6630700 |
323 | C>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6630701 rs370169977 |
323 | C>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1482166323 CA385262102 |
323 | C>S | No |
ClinGen TOPMed |
|
|
CA385262076 rs1234914947 |
327 | T>A | No |
ClinGen gnomAD |
|
|
CA6630698 rs147782754 |
329 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA237652460 rs763102693 |
331 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA6630697 rs763102693 |
331 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs544601017 CA6630695 |
333 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA385262017 rs1455054926 |
337 | G>S | No |
ClinGen Ensembl |
|
|
CA385261993 rs1412392536 |
340 | F>V | No |
ClinGen gnomAD |
|
|
rs139440046 CA6630693 |
342 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1429671527 CA385261975 |
343 | R>* | No |
ClinGen gnomAD |
|
|
rs1429671527 CA385261976 |
343 | R>G | No |
ClinGen gnomAD |
|
|
COSM941658 rs897268737 CA237652418 |
343 | R>Q | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs763090413 CA6630668 CA385261937 |
348 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs763090413 CA385261938 |
348 | V>M | No |
ClinGen ExAC gnomAD |
|
|
RCV001092488 rs1878353719 |
349 | R>missing | No |
ClinVar dbSNP |
|
|
CA385261929 rs1370464832 |
349 | R>I | No |
ClinGen gnomAD |
|
|
CA6630667 rs752796626 |
353 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA237652194 rs201250132 |
356 | S>L | No |
ClinGen Ensembl |
|
| TCGA novel | 359 | V>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs894073139 CA237652189 |
359 | V>M | No |
ClinGen Ensembl |
|
| TCGA novel | 360 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1481932337 CA385261861 |
360 | E>Q | No |
ClinGen gnomAD |
|
|
COSM386528 CA385261837 rs1304296186 |
363 | I>M | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA385261838 rs771226498 |
363 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 363 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA385261811 rs1171611362 |
365 | R>S | No |
ClinGen gnomAD |
|
|
CA385261796 rs1455465053 |
367 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs757072598 CA6630643 |
368 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6630639 rs772484617 |
372 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385261767 rs772484617 |
372 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6630620 rs774874986 |
374 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA6630621 rs540221109 COSM468670 |
374 | R>W | kidney [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
|
CA6630619 rs572016876 |
381 | S>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1295176968 CA385261686 |
382 | N>K | No |
ClinGen gnomAD |
|
|
CA385261682 rs1425573841 |
383 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs763559689 CA6630618 |
384 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA605262640 rs1297467809 |
386 | L>F | No |
ClinGen gnomAD |
|
|
rs776264717 CA6630617 |
387 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA6630616 rs770628741 |
388 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs770628741 CA385261651 |
388 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA385261647 rs1565653029 |
389 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs773009245 CA6630614 |
390 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA6630613 rs771850550 |
395 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA385261555 rs778808895 |
401 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778808895 COSM941657 CA6630611 |
401 | G>D | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1050136639 CA237651279 |
405 | L>P | No |
ClinGen TOPMed |
|
|
rs769819847 CA6630589 |
409 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6630587 rs781377283 |
412 | G>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 417 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA237651258 rs1031140287 |
417 | S>G | No |
ClinGen Ensembl |
|
|
CA6630586 rs777349249 |
418 | N>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 420 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA237651127 rs750097169 |
421 | P>L | No |
ClinGen Ensembl |
|
|
CA6630566 rs747138761 |
422 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA385261399 rs1397328189 |
423 | G>S | No |
ClinGen gnomAD |
|
|
rs926581293 CA237651122 |
428 | L>P | No |
ClinGen TOPMed |
|
|
rs758792273 CA6630564 |
429 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1371562030 CA385261359 |
429 | H>Y | No |
ClinGen gnomAD |
|
|
CA6630563 rs753079503 COSM1717332 |
430 | I>M | NS [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1429259856 CA385261353 |
430 | I>V | No |
ClinGen gnomAD |
|
|
rs1210130386 CA385261348 |
431 | I>L | No |
ClinGen gnomAD |
|
|
CA385261338 rs1218355226 |
432 | S>N | No |
ClinGen TOPMed |
|
|
rs1261037436 CA385261325 |
434 | T>A | No |
ClinGen TOPMed |
|
|
rs1405753145 CA385261320 |
435 | V>I | No |
ClinGen gnomAD |
|
|
CA385261306 rs1229151132 |
437 | Y>H | No |
ClinGen gnomAD |
|
|
rs1412329844 CA385261274 |
441 | G>V | No |
ClinGen gnomAD |
|
|
CA6630556 rs763840968 |
444 | Q>P | No |
ClinGen ExAC |
|
| TCGA novel | 445 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6630555 rs762636065 |
446 | L>V | No |
ClinGen ExAC |
|
| TCGA novel | 449 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA385261078 rs1457995108 |
451 | L>F | No |
ClinGen gnomAD |
|
|
CA6630530 rs773327366 |
452 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA385261065 rs1163894108 |
453 | V>A | No |
ClinGen TOPMed |
|
|
CA385261062 rs1211423547 |
454 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA385261063 rs1211423547 |
454 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1336402744 CA385261048 |
456 | I>F | No |
ClinGen gnomAD |
|
|
rs1223767570 CA385261005 |
461 | Q>H | No |
ClinGen gnomAD |
|
|
rs80325067 CA6630525 |
465 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs1333853387 CA385260958 |
469 | V>F | No |
ClinGen TOPMed |
|
|
CA385260952 rs1486042806 |
470 | L>F | No |
ClinGen gnomAD |
|
|
rs746423465 CA6630522 |
473 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA385260919 rs1284271695 |
474 | L>F | No |
ClinGen TOPMed |
|
|
rs369548913 CA6630520 |
475 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA385260909 rs1317747916 |
476 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1196803365 CA385260860 |
481 | N>S | No |
ClinGen Ensembl |
|
|
CA237650713 rs1049614155 |
485 | F>L | No |
ClinGen Ensembl |
|
|
rs1468678981 CA385260814 |
487 | N>T | No |
ClinGen TOPMed gnomAD |
|
|
CA6630495 rs767595068 |
488 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA385260810 rs750338004 |
488 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385260811 rs750338004 |
488 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs149351309 CA385260807 |
489 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs138681270 CA6630493 |
489 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA385260806 rs149351309 |
489 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs149351309 CA6630494 |
489 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| rs763294380 | 490 | K>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1449087315 CA385260797 |
491 | A>T | No |
ClinGen TOPMed |
|
|
rs956897271 CA237650682 |
491 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA385260788 rs1592472711 |
492 | P>L | No |
ClinGen Ensembl |
|
|
rs1032890333 CA237650675 |
492 | P>S | No |
ClinGen TOPMed |
|
| TCGA novel | 493 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 493 | W>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1354779360 CA385260754 |
497 | G>D | No |
ClinGen gnomAD |
|
|
rs1303248116 CA385260758 |
497 | G>S | No |
ClinGen TOPMed |
|
|
CA237650670 rs200417427 |
498 | P>A | No |
ClinGen gnomAD |
|
|
CA385260748 rs1310929672 |
498 | P>L | No |
ClinGen gnomAD |
|
|
rs1467441950 CA385260739 |
500 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1359517748 CA385260733 |
501 | S>C | No |
ClinGen gnomAD |
|
|
CA237650656 VAR_014900 rs2066809 |
501 | S>I | No |
ClinGen UniProt Ensembl dbSNP |
|
|
COSM1677091 rs1169352544 CA385260720 |
502 | W>C | kidney [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA237650632 rs979722572 |
507 | Y>C | No |
ClinGen TOPMed |
|
|
COSM3812584 rs755099508 CA237650626 |
510 | R>Q | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA385260642 rs1256042012 |
515 | D>H | No |
ClinGen gnomAD |
|
|
CA6630486 rs759845888 |
516 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA6630485 rs190412290 |
519 | M>V | No |
ClinGen 1000Genomes ExAC |
|
|
rs924042798 CA237650607 |
525 | F>C | No |
ClinGen Ensembl |
|
|
rs747571364 CA385260568 CA6630483 |
525 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs571666221 CA237650597 CA6630482 |
526 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385260538 rs1197952203 |
528 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA6630465 rs754149611 |
534 | P>S | No |
ClinGen ExAC |
|
| TCGA novel | 535 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6630464 rs766795191 |
537 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6630463 rs761101546 |
538 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs774850939 CA6630441 |
544 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385260414 rs1452887009 |
545 | E>Q | No |
ClinGen gnomAD |
|
|
rs761984412 CA237647405 |
546 | S>N | No |
ClinGen Ensembl |
|
| TCGA novel | 548 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA385260392 rs1221866238 |
548 | P>L | No |
ClinGen TOPMed |
|
|
rs769498084 CA6630440 |
548 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385260375 rs1484161628 |
551 | L>I | No |
ClinGen TOPMed |
|
|
rs201603822 CA6630436 |
558 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1592471758 CA385260322 |
558 | D>G | No |
ClinGen Ensembl |
|
|
CA6630437 rs770804761 |
558 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1565651077 CA385260299 |
562 | E>K | No |
ClinGen Ensembl |
|
|
rs199606546 CA6630434 |
564 | V>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1423841053 CA385260255 |
568 | L>V | No |
ClinGen TOPMed |
|
| TCGA novel | 569 | K>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA237647379 rs1054332968 |
570 | D>N | No |
ClinGen Ensembl |
|
|
rs1233474115 CA385260220 |
573 | N>D | No |
ClinGen gnomAD |
|
|
CA237647375 rs562829410 |
573 | N>S | No |
ClinGen gnomAD |
|
|
CA385260210 rs778855727 |
574 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6630432 rs778855727 |
574 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780130229 CA6630411 |
576 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs780130229 CA385260188 |
576 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6630410 rs200944055 |
576 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA385260185 rs1340159615 |
577 | I>V | No |
ClinGen gnomAD |
|
|
CA237646641 rs534150839 |
578 | M>I | No |
ClinGen Ensembl |
|
|
CA6630409 rs750660259 |
578 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA237646634 rs1018464203 |
583 | R>Q | No |
ClinGen TOPMed |
|
| TCGA novel | 583 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781403098 CA6630407 |
587 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs571762549 CA6630406 |
587 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs781403098 CA385260115 |
587 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6630404 rs138136918 |
588 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 592 | K>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs772977444 CA6630399 |
594 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs528264295 CA6630400 |
594 | M>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA385260071 rs1393954720 |
595 | S>P | No |
ClinGen gnomAD |
|
| TCGA novel | 596 | G>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 596 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6630397 rs761708943 |
597 | T>S | No |
ClinGen ExAC |
|
|
rs1321699926 CA385260045 |
599 | L>V | No |
ClinGen gnomAD |
|
| TCGA novel | 601 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1366152782 CA385260031 |
601 | R>H | No |
ClinGen TOPMed |
|
|
rs1393161471 CA385260019 |
603 | S>I | No |
ClinGen TOPMed |
|
|
rs1163757151 CA385260001 |
605 | S>L | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 605 | S>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs780040923 CA6630393 |
607 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs746061720 CA385259984 |
608 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 609 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1251947037 CA385259974 |
610 | I>V | No |
ClinGen gnomAD |
|
|
CA385259960 rs1218750692 |
612 | C>F | No |
ClinGen gnomAD |
|
|
CA385259958 rs1218750692 |
612 | C>S | No |
ClinGen gnomAD |
|
|
CA6630390 rs781522558 |
612 | C>W | No |
ClinGen ExAC gnomAD |
|
|
rs141279456 CA237646544 |
613 | S>F | No |
ClinGen ESP gnomAD |
|
| TCGA novel | 614 | W>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6630389 rs757527791 |
617 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1391401672 CA385259920 |
618 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1391401672 CA385259921 |
618 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
rs747333336 CA6630388 |
618 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1241273386 CA385259914 |
619 | D>H | No |
ClinGen gnomAD |
|
|
rs1043161504 CA237646391 |
625 | I>T | No |
ClinGen TOPMed |
|
|
rs778282005 CA6630369 |
629 | Q>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 631 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748645690 CA6630367 |
632 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs143059589 CA6630366 COSM172597 |
632 | T>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA385259800 rs1216115023 |
634 | E>V | No |
ClinGen TOPMed |
|
|
rs1216892580 COSM399665 CA385259782 |
637 | Q>* | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA385259780 rs1320081320 |
637 | Q>R | No |
ClinGen gnomAD |
|
|
CA385259775 rs1280095034 |
638 | S>P | No |
ClinGen gnomAD |
|
|
rs756836007 CA6630362 |
640 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA385259749 rs1264500833 |
643 | E>K | No |
ClinGen TOPMed |
|
|
rs763862558 CA6630360 |
646 | R>C | Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs762783105 CA6630359 |
646 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs112510702 CA6630358 |
651 | L>H | No |
ClinGen ExAC gnomAD |
|
|
rs112510702 CA237646324 |
651 | L>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 653 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs149037282 CA237646318 |
655 | N>T | No |
ClinGen ESP |
|
|
CA385259655 rs1592467313 |
656 | I>T | No |
ClinGen Ensembl |
|
|
rs369986109 CA6630354 |
657 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA237646309 rs770985752 |
661 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA6630352 rs747223187 |
662 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA385259615 rs1459196364 |
663 | F>V | No |
ClinGen gnomAD |
|
|
rs570050713 CA6630350 |
664 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA385259595 rs779168542 |
666 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs779168542 CA6630348 |
666 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA6630345 COSM191915 rs780748121 |
670 | R>Q | large_intestine Variant assessed as Somatic; 4.62e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs756815769 CA385259571 |
671 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756815769 CA6630344 |
671 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6630343 rs751187659 |
678 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs113631947 CA237646289 |
679 | Q>R | No |
ClinGen Ensembl |
|
|
CA6630342 rs777439536 |
682 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA237646111 rs960290991 |
683 | N>H | No |
ClinGen Ensembl |
|
|
rs770394204 CA6630325 |
685 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA6630323 rs777282763 |
688 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs200918874 CA6630321 |
693 | H>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1490494569 CA385259398 |
694 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
CA6630320 rs778758060 |
696 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA237646099 rs866010540 |
699 | S>F | No |
ClinGen Ensembl |
|
|
CA6630319 rs368002633 |
700 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6630318 rs201915507 |
701 | R>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA385259310 rs1435879572 |
705 | E>D | No |
ClinGen TOPMed |
|
|
CA385259317 rs1276942001 |
705 | E>K | No |
ClinGen gnomAD |
|
|
rs149859580 CA6630302 |
709 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1280795503 CA385259269 |
712 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs780008756 CA6630300 |
715 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756049228 CA6630299 |
716 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA385259239 rs1168515180 |
716 | P>L | No |
ClinGen gnomAD |
|
|
rs1373504686 CA385259223 |
719 | E>K | No |
ClinGen gnomAD |
|
|
CA385259204 rs767691268 |
722 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6630297 rs767691268 |
722 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1440464266 CA385259195 |
723 | L>R | No |
ClinGen gnomAD |
|
|
CA385259192 rs1565646414 |
724 | E>K | No |
ClinGen Ensembl |
|
|
CA6630295 rs543232865 |
725 | L>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA385259178 rs1313964060 |
726 | G>E | No |
ClinGen TOPMed |
|
|
CA6630294 rs146618392 |
726 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385259173 rs1255624172 |
727 | L>Q | No |
ClinGen gnomAD |
|
|
rs181056205 CA6630292 |
728 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6630291 rs765587705 |
732 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA237645160 rs56067838 |
734 | S>G | No |
ClinGen Ensembl |
|
|
CA6630288 rs777176192 |
735 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs760026360 CA6630289 |
735 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6630286 rs747572198 |
736 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs771543022 CA6630287 |
736 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1337148683 CA385259110 |
738 | E>K | No |
ClinGen TOPMed |
|
|
CA6630284 rs768136207 |
743 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1428253154 CA385259035 |
750 | E>G | No |
ClinGen gnomAD |
|
| TCGA novel | 753 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA385259011 rs1565646242 |
754 | V>M | No |
ClinGen Ensembl |
|
|
CA6630281 rs756030735 |
755 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
rs144395122 CA6630279 |
756 | E>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1565646209 CA385258989 |
758 | T>A | No |
ClinGen Ensembl |
|
|
CA6630277 rs560524476 |
761 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA385258920 rs758479022 |
769 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA6630275 rs758479022 |
769 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs545406892 CA6630274 |
773 | T>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1311671194 CA385258880 |
775 | P>S | No |
ClinGen gnomAD |
|
|
rs540878199 CA237645064 |
779 | Q>R | No |
ClinGen Ensembl |
|
|
CA385258833 rs1469214235 |
782 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA385258822 rs1322880921 |
784 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
CA6630269 rs371190101 |
784 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA385258823 rs1322880921 |
784 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
rs766748888 CA6630270 |
784 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
rs1164015479 CA385258812 |
785 | P>L | No |
ClinGen gnomAD |
|
|
CA385258810 rs1395003108 COSM1266905 |
786 | V>L | oesophagus [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs1378152971 CA385258785 |
790 | D>H | No |
ClinGen gnomAD |
|
|
CA6630266 rs762680392 |
793 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6630265 rs775331965 |
794 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385258741 rs1293084152 COSM191913 |
796 | R>I | large_intestine Variant assessed as Somatic; 0.0002312 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1592462306 CA385258738 |
797 | H>Y | No |
ClinGen Ensembl |
|
|
CA385258711 rs1216367363 |
800 | T>S | No |
ClinGen gnomAD |
|
|
rs1592462269 CA385258691 |
803 | M>I | No |
ClinGen Ensembl |
|
|
CA6630262 rs369138789 |
803 | M>T | No |
ClinGen ESP ExAC TOPMed |
|
|
CA6630263 rs61756199 |
803 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1480515518 CA385258658 |
806 | F>V | No |
ClinGen TOPMed |
|
| TCGA novel | 807 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1324338561 CA385258634 |
809 | C>Y | No |
ClinGen gnomAD |
|
|
rs928947153 CA237644870 |
811 | K>T | No |
ClinGen gnomAD |
|
|
CA385258614 rs1217921542 |
812 | I>F | No |
ClinGen gnomAD |
|
|
rs1338259249 CA385258605 |
813 | E>G | No |
ClinGen gnomAD |
|
|
rs139653103 CA237644866 |
815 | I>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs139653103 CA6630249 |
815 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs773752359 CA6630248 |
816 | M>L | No |
ClinGen ExAC gnomAD |
|
|
RCV000454428 rs61754170 CA6630243 |
825 | G>C | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
CA385258482 rs1212414692 |
832 | V>F | No |
ClinGen gnomAD |
|
|
CA385258475 rs1592461684 |
833 | Y>S | No |
ClinGen Ensembl |
|
|
rs1592461652 CA385258467 |
834 | V>A | No |
ClinGen Ensembl |
|
|
CA6630235 rs201551671 |
834 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385258462 rs1214990324 |
835 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1214990324 CA385258461 |
835 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA6630233 rs77893781 |
835 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs759254318 CA6630229 |
836 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA237644794 rs143765243 |
837 | P>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6630228 rs143765243 |
837 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA385258446 rs1463562976 |
838 | S>R | No |
ClinGen gnomAD |
|
|
rs1307233729 CA385258425 |
841 | Y>C | No |
ClinGen TOPMed |
|
|
CA385258417 rs1356843849 |
842 | T>S | No |
ClinGen gnomAD |
|
|
rs766059622 CA6630227 |
843 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1486321139 CA385258397 |
845 | P>L | No |
ClinGen TOPMed |
|
|
rs772907846 CA6630225 |
847 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771943479 CA6630224 |
852 | F>W | No |
ClinGen ExAC TOPMed gnomAD |
2 associated diseases with P52630
[MIM: 616636]: Immunodeficiency 44 (IMD44)
An autosomal recessive disorder characterized by increased susceptibility to viral infection, resulting in some patients in encephalopathy and infection-associated neurologic decompensation. {ECO:0000269|PubMed:23391734, ECO:0000269|PubMed:26122121}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 618886]: Pseudo-TORCH syndrome 3 (PTORCH3)
An autosomal recessive disorder characterized by developmental delay with acute episodes of fever and multisystemic organ involvement, including coagulopathy, elevated liver enzymes, and proteinuria, often associated with thrombotic microangiopathy. Brain imaging shows progressive intracranial calcifications, white matter abnormalities, and sometimes cerebral or cerebellar atrophy. Disease onset is in the neonatal period, and death in early childhood is common. {ECO:0000269|PubMed:31836668, ECO:0000269|PubMed:32092142}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- An autosomal recessive disorder characterized by increased susceptibility to viral infection, resulting in some patients in encephalopathy and infection-associated neurologic decompensation. {ECO:0000269|PubMed:23391734, ECO:0000269|PubMed:26122121}. Note=The disease is caused by variants affecting the gene represented in this entry.
- An autosomal recessive disorder characterized by developmental delay with acute episodes of fever and multisystemic organ involvement, including coagulopathy, elevated liver enzymes, and proteinuria, often associated with thrombotic microangiopathy. Brain imaging shows progressive intracranial calcifications, white matter abnormalities, and sometimes cerebral or cerebellar atrophy. Disease onset is in the neonatal period, and death in early childhood is common. {ECO:0000269|PubMed:31836668, ECO:0000269|PubMed:32092142}. Note=The disease is caused by variants affecting the gene represented in this entry.
6 regional properties for P52630
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | SH2 domain | 570 - 667 | IPR000980 |
| domain | STAT transcription factor, protein interaction | 2 - 125 | IPR013799 |
| domain | STAT transcription factor, all-alpha domain | 147 - 308 | IPR013800 |
| domain | STAT transcription factor, DNA-binding | 321 - 456 | IPR013801 |
| domain | Signal transducer and activation of transcription 2, C-terminal | 783 - 838 | IPR022756 |
| domain | STAT2, SH2 domain | 556 - 706 | IPR035854 |
6 GO annotations of cellular component
| Name | Definition |
|---|---|
| chromatin | The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| ISGF3 complex | A transcription factor complex that consists of a Stat1-Stat2 heterodimer and the IRF9 protein. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| RNA polymerase II transcription regulator complex | A transcription factor complex that acts at a regulatory region of a gene transcribed by RNA polymerase II. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| DNA-binding transcription factor activity, RNA polymerase II-specific | A DNA-binding transcription factor activity that modulates the transcription of specific gene sets transcribed by RNA polymerase II. |
| identical protein binding | Binding to an identical protein or proteins. |
| RNA polymerase II cis-regulatory region sequence-specific DNA binding | Binding to a specific upstream regulatory DNA sequence (transcription factor recognition sequence or binding site) located in cis relative to the transcription start site (i.e., on the same strand of DNA) of a gene transcribed by RNA polymerase II. |
| ubiquitin-like protein ligase binding | Binding to a ubiquitin-like protein ligase, such as ubiquitin-ligase. |
12 GO annotations of biological process
| Name | Definition |
|---|---|
| cytokine-mediated signaling pathway | The series of molecular signals initiated by the binding of a cytokine to a receptor on the surface of a cell, and ending with the regulation of a downstream cellular process, e.g. transcription. |
| defense response | Reactions, triggered in response to the presence of a foreign body or the occurrence of an injury, which result in restriction of damage to the organism attacked or prevention/recovery from the infection caused by the attack. |
| defense response to virus | Reactions triggered in response to the presence of a virus that act to protect the cell or organism. |
| negative regulation of type I interferon-mediated signaling pathway | Any process that decreases the rate, frequency or extent of a type I interferon-mediated signaling pathway. |
| positive regulation of transcription by RNA polymerase II | Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter. |
| receptor signaling pathway via JAK-STAT | Any process in which STAT proteins (Signal Transducers and Activators of Transcription) and JAK (Janus Activated Kinase) proteins convey a signal to trigger a change in the activity or state of a cell. The receptor signaling pathway via JAK-STAT begins with activation of a receptor and proceeeds through STAT protein activation by members of the JAK family of tyrosine kinases. STAT proteins dimerize and subsequently translocate to the nucleus. The pathway ends with regulation of target gene expression by STAT proteins. |
| regulation of cell population proliferation | Any process that modulates the frequency, rate or extent of cell proliferation. |
| regulation of mitochondrial fission | Any process that modulates the rate, frequency or extent of mitochondrial fission. Mitochondrial fission is the division of a mitochondrion within a cell to form two or more separate mitochondrial compartments. |
| regulation of protein phosphorylation | Any process that modulates the frequency, rate or extent of addition of phosphate groups into an amino acid in a protein. |
| regulation of transcription by RNA polymerase II | Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II. |
| response to peptide hormone | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a peptide hormone stimulus. A peptide hormone is any of a class of peptides that are secreted into the blood stream and have endocrine functions in living animals. |
| type I interferon signaling pathway | The series of molecular signals initiated by type I interferon binding to its receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription. Type I interferons include the interferon-alpha, beta, delta, episilon, zeta, kappa, tau, and omega gene families. |
15 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P61635 | STAT3 | Signal transducer and activator of transcription 3 | Bos taurus (Bovine) | PR |
| Q6DV79 | STAT3 | Signal transducer and activator of transcription 3 | Gallus gallus (Chicken) | PR |
| P40763 | STAT3 | Signal transducer and activator of transcription 3 | Homo sapiens (Human) | PR |
| P42224 | STAT1 | Signal transducer and activator of transcription 1-alpha/beta | Homo sapiens (Human) | PR |
| Q14765 | STAT4 | Signal transducer and activator of transcription 4 | Homo sapiens (Human) | PR |
| P42229 | STAT5A | Signal transducer and activator of transcription 5A | Homo sapiens (Human) | PR |
| P51692 | STAT5B | Signal transducer and activator of transcription 5B | Homo sapiens (Human) | PR |
| P42230 | Stat5a | Signal transducer and activator of transcription 5A | Mus musculus (Mouse) | PR |
| P42228 | Stat4 | Signal transducer and activator of transcription 4 | Mus musculus (Mouse) | PR |
| P42225 | Stat1 | Signal transducer and activator of transcription 1 | Mus musculus (Mouse) | PR |
| P42227 | Stat3 | Signal transducer and activator of transcription 3 | Mus musculus (Mouse) | PR |
| Q9WVL2 | Stat2 | Signal transducer and activator of transcription 2 | Mus musculus (Mouse) | PR |
| Q19S50 | STAT3 | Signal transducer and activator of transcription 3 | Sus scrofa (Pig) | PR |
| P52631 | Stat3 | Signal transducer and activator of transcription 3 | Rattus norvegicus (Rat) | PR |
| Q9NAD6 | sta-1 | Signal transducer and activator of transcription 1 | Caenorhabditis elegans | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAQWEMLQNL | DSPFQDQLHQ | LYSHSLLPVD | IRQYLAVWIE | DQNWQEAALG | SDDSKATMLF |
| 70 | 80 | 90 | 100 | 110 | 120 |
| FHFLDQLNYE | CGRCSQDPES | LLLQHNLRKF | CRDIQPFSQD | PTQLAEMIFN | LLLEEKRILI |
| 130 | 140 | 150 | 160 | 170 | 180 |
| QAQRAQLEQG | EPVLETPVES | QQHEIESRIL | DLRAMMEKLV | KSISQLKDQQ | DVFCFRYKIQ |
| 190 | 200 | 210 | 220 | 230 | 240 |
| AKGKTPSLDP | HQTKEQKILQ | ETLNELDKRR | KEVLDASKAL | LGRLTTLIEL | LLPKLEEWKA |
| 250 | 260 | 270 | 280 | 290 | 300 |
| QQQKACIRAP | IDHGLEQLET | WFTAGAKLLF | HLRQLLKELK | GLSCLVSYQD | DPLTKGVDLR |
| 310 | 320 | 330 | 340 | 350 | 360 |
| NAQVTELLQR | LLHRAFVVET | QPCMPQTPHR | PLILKTGSKF | TVRTRLLVRL | QEGNESLTVE |
| 370 | 380 | 390 | 400 | 410 | 420 |
| VSIDRNPPQL | QGFRKFNILT | SNQKTLTPEK | GQSQGLIWDF | GYLTLVEQRS | GGSGKGSNKG |
| 430 | 440 | 450 | 460 | 470 | 480 |
| PLGVTEELHI | ISFTVKYTYQ | GLKQELKTDT | LPVVIISNMN | QLSIAWASVL | WFNLLSPNLQ |
| 490 | 500 | 510 | 520 | 530 | 540 |
| NQQFFSNPPK | APWSLLGPAL | SWQFSSYVGR | GLNSDQLSML | RNKLFGQNCR | TEDPLLSWAD |
| 550 | 560 | 570 | 580 | 590 | 600 |
| FTKRESPPGK | LPFWTWLDKI | LELVHDHLKD | LWNDGRIMGF | VSRSQERRLL | KKTMSGTFLL |
| 610 | 620 | 630 | 640 | 650 | 660 |
| RFSESSEGGI | TCSWVEHQDD | DKVLIYSVQP | YTKEVLQSLP | LTEIIRHYQL | LTEENIPENP |
| 670 | 680 | 690 | 700 | 710 | 720 |
| LRFLYPRIPR | DEAFGCYYQE | KVNLQERRKY | LKHRLIVVSN | RQVDELQQPL | ELKPEPELES |
| 730 | 740 | 750 | 760 | 770 | 780 |
| LELELGLVPE | PELSLDLEPL | LKAGLDLGPE | LESVLESTLE | PVIEPTLCMV | SQTVPEPDQG |
| 790 | 800 | 810 | 820 | 830 | 840 |
| PVSQPVPEPD | LPCDLRHLNT | EPMEIFRNCV | KIEEIMPNGD | PLLAGQNTVD | EVYVSRPSHF |
| 850 | |||||
| YTDGPLMPSD | F |