AiPD: Autoinhibited Protein Database

P29597

Gene name	TYK2
Protein name	Non-receptor tyrosine-protein kinase TYK2
Names	EC 2.7.10.2
Species	Homo sapiens (Human)
KEGG Pathway	hsa:7297
EC number	2.7.10.2: Protein-tyrosine kinases
Protein Class	TYROSINE-PROTEIN KINASE HOPSCOTCH (PTHR45807)

Descriptions

TYK2 is a tyrosine kinase of the non-receptor type involved in numerous cytokines and interferons signaling. The pseudokinase domain mediates autoinhibition of the TYK2 kinase domain. The kinase inhibitor deucravacitinib inhibits TYK2 kinase in three distinct states including the autoinhibited state. It binds competitively with ATP in the pseudokinase domain, restricting the dynamics required for kinase activity and preventing the formation of the active state through steric clashes.

Autoinhibitory domains (AIDs)

Target domain	892-1174 (Protein kinase domain)
Relief mechanism	Ligand binding, Partner binding
Assay	Structural analysis, Mutagenesis experiment

AID

589-867 (Pseudokinase domain)

Target domain

892-1174 (Protein kinase domain)

Relief mechanism

Ligand binding (ATP binding to the cleft between the two lobes), Partner binding (Dimerization)

Assay

Structural analysis, Mutagenesis experiment

Accessory elements

1040-1066 (Activation loop from InterPro)

Target domain	892-1174 (Protein kinase domain)
Relief mechanism
Assay

References

Wang J et al. (2023) "Triple-action inhibitory mechanism of allosteric TYK2-specific inhibitors", bioRxiv : the preprint server for biology, ,

Lupardus PJ et al. (2014) "Structure of the pseudokinase-kinase domains from protein kinase TYK2 reveals a mechanism for Janus kinase (JAK) autoinhibition", Proceedings of the National Academy of Sciences of the United States of America, 111, 8025-30

Autoinhibited structure

Activated structure

53 structures for P29597

Entry ID	Method	Resolution	Chain	Position	Source
3LXN	X-ray	250 A	A	888-1182	PDB
3LXP	X-ray	165 A	A	888-1182	PDB
3NYX	X-ray	250 A	A	885-1176	PDB
3NZ0	X-ray	200 A	A	885-1176	PDB
3ZON	X-ray	215 A	A	541-873	PDB
4GFO	X-ray	230 A	A	884-1176	PDB
4GIH	X-ray	200 A	A	885-1176	PDB
4GII	X-ray	231 A	A	885-1176	PDB
4GJ2	X-ray	240 A	A	885-1176	PDB
4GJ3	X-ray	250 A	A	885-1176	PDB
4GVJ	X-ray	203 A	A	885-1176	PDB
4OLI	X-ray	280 A	A	566-1187	PDB
4PO6	X-ray	199 A	A	23-583	PDB
4PY1	X-ray	216 A	A	888-1182	PDB
4WOV	X-ray	180 A	A/B	575-869	PDB
5C01	X-ray	215 A	A/B	556-871	PDB
5C03	X-ray	190 A	A/B	556-871	PDB
5F1Z	X-ray	265 A	A	884-1176	PDB
5F20	X-ray	291 A	A	884-1176	PDB
5TKD	X-ray	192 A	A/B	575-869	PDB
5WAL	X-ray	245 A	A	884-1176	PDB
6AAM	X-ray	198 A	A	888-1182	PDB
6DBK	X-ray	200 A	A	888-1182	PDB
6DBM	X-ray	237 A	A	888-1182	PDB
6NSL	X-ray	215 A	A/B	575-869	PDB
6NZE	X-ray	196 A	A/B	575-869	PDB
6NZF	X-ray	239 A	A/B	575-869	PDB
6NZH	X-ray	273 A	A/B	575-869	PDB
6NZP	X-ray	235 A	A/B	575-869	PDB
6NZQ	X-ray	211 A	A/B	575-869	PDB
6NZR	X-ray	256 A	A/B	575-869	PDB
6OVA	X-ray	250 A	A	884-1176	PDB
6VNS	X-ray	209 A	A	888-1182	PDB
6VNV	X-ray	215 A	A	888-1182	PDB
6VNX	X-ray	218 A	A	888-1182	PDB
6VNY	X-ray	230 A	A	888-1182	PDB
6X8F	X-ray	215 A	A/C	888-1182	PDB
6X8G	X-ray	221 A	A	888-1182	PDB
7AX4	X-ray	212 A	A/B	575-869	PDB
7K7O	X-ray	282 A	A/B	575-869	PDB
7K7Q	X-ray	227 A	A/B	575-869	PDB
7UYR	X-ray	215 A	A	889-1177	PDB
7UYS	X-ray	215 A	A	889-1177	PDB
7UYT	X-ray	214 A	A	889-1177	PDB
7UYU	X-ray	205 A	A	889-1177	PDB
8EXN	X-ray	215 A	D	1048-1062	PDB
8EYC	X-ray	299 A	C	1048-1062	PDB
8S98	X-ray	187 A	A/B/C	575-869	PDB
8S99	X-ray	171 A	A/B/C	575-869	PDB
8S9A	X-ray	183 A	A/B/C	575-869	PDB
8TB5	X-ray	232 A	A/B	566-870	PDB
8TB6	X-ray	196 A	A/B	566-870	PDB
AF-P29597-F1	Predicted				AlphaFoldDB

1282 variants for P29597

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs368801193 RCV001241854	4	R>C	Immunodeficiency 35 [ClinVar]	Yes	ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001231066 VAR_020597 rs12720343	4	R>H	Immunodeficiency 35 [ClinVar]	Yes	ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV002024935 rs12720343	4	R>P	Immunodeficiency 35 [ClinVar]	Yes	ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs533026972 RCV001933686	6	W>R	Immunodeficiency 35 [ClinVar]	Yes	ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs2042247201 RCV001047343	12	S>G	Immunodeficiency 35 [ClinVar]	Yes	ClinVar Ensembl dbSNP
rs769741671 RCV001064932	12	S>R	Immunodeficiency 35 [ClinVar]	Yes	ClinVar ExAC dbSNP gnomAD
CA9193896 RCV000482893 COSM327327 rs144960992 RCV001082832	15	V>A	Immunodeficiency 35 haematopoietic_and_lymphoid_tissue [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs374780145 RCV000696218	15	V>F	Immunodeficiency 35 [ClinVar]	Yes	ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs374780145 RCV001887403	15	V>I	Immunodeficiency 35 [ClinVar]	Yes	ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs755381338 RCV001346268	19	A>T	Immunodeficiency 35 [ClinVar]	Yes	ClinVar Ensembl dbSNP
rs777395821 CA9193891 RCV000645224	22	M>V	Immunodeficiency 35 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000706784 rs753473919	27	G>D	Immunodeficiency 35 [ClinVar]	Yes	ClinVar Ensembl dbSNP
COSM1390092 RCV001459985 rs201283990	39	G>S	Immunodeficiency 35 large_intestine [ClinVar, Cosmic]	Yes	cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs763286803 RCV001921564	40	G>R	Immunodeficiency 35 [ClinVar]	Yes	ExAC TOPMed gnomAD ClinVar dbSNP
RCV001242308 rs147251502	42	P>A	Immunodeficiency 35 [ClinVar]	Yes	ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001931740 rs761736148	42	P>L	Immunodeficiency 35 [ClinVar]	Yes	ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV000800934 RCV000519745 CA9193882 rs147251502	42	P>T	Immunodeficiency 35 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000210451 rs879253732 CA10575999	50	S>missing	Immunodeficiency 35 [ClinVar]	Yes	ClinGen ClinVar dbSNP
rs747484809 RCV001238943	50	S>L	Immunodeficiency 35 [ClinVar]	Yes	ClinVar ExAC dbSNP gnomAD
RCV000441975 RCV000534611 rs55762744 CA9193876 RCV003409588	53	A>T	Immunodeficiency 35 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001344387 rs752152984	60	I>T	Immunodeficiency 35 [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
rs1249291887 RCV001313453	63	K>E	Immunodeficiency 35 [ClinVar]	Yes	ClinVar TOPMed dbSNP gnomAD
RCV001042380 rs774905892	67	T>S	Immunodeficiency 35 [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
rs1045396233 RCV002001705	68	P>A	Immunodeficiency 35 [ClinVar]	Yes	ClinVar Ensembl dbSNP
rs770927552 CA9193810 RCV000519417 RCV000014228	70	C>missing	Immunodeficiency 35 [ClinVar]	Yes	ClinGen ClinVar dbSNP
RCV000645233 CA9193811 rs374071090	71	F>L	Immunodeficiency 35 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001368942 rs778171865	78	D>N	Immunodeficiency 35 [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
RCV001210453 rs778171865	78	D>Y	Immunodeficiency 35 [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
RCV001936082 rs1407281800	83	V>A	Immunodeficiency 35 [ClinVar]	Yes	ClinVar TOPMed dbSNP gnomAD
rs141466711 CA9193802 RCV000645235	86	P>T	Immunodeficiency 35 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001998415 rs2145275752	87	P>L	Immunodeficiency 35 [ClinVar]	Yes	ClinVar Ensembl dbSNP
RCV001323474 RCV003166889 rs1434718123	93	I>F	Immunodeficiency 35 Inborn genetic diseases [ClinVar]	Yes	ClinVar TOPMed dbSNP gnomAD
RCV001295736 rs765557425	94	P>R	Immunodeficiency 35 [ClinVar]	Yes	ClinVar ExAC dbSNP gnomAD
rs1599355965 RCV000812810	95	R>K	Immunodeficiency 35 [ClinVar]	Yes	ClinVar Ensembl dbSNP
RCV001977894 rs2145275479	96	D>Y	Immunodeficiency 35 [ClinVar]	Yes	ClinVar Ensembl dbSNP
RCV001301373 RCV000522191 CA9193791 rs774448680	104	R>H	Immunodeficiency 35 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001122035 rs56090991	110	R>Q	Immunodeficiency 35 [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
rs747918278 RCV001122036	110	R>W	Immunodeficiency 35 [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
RCV001209836 rs2041753647	111	N>K	Immunodeficiency 35 [ClinVar]	Yes	ClinVar Ensembl dbSNP
rs141864691 RCV000701408	117	P>S	Immunodeficiency 35 [ClinVar]	Yes	ClinVar ESP TOPMed dbSNP gnomAD
rs369530676 RCV001855709 RCV000761987 RCV003279044	118	R>Q	Immunodeficiency 35 Inborn genetic diseases [ClinVar]	Yes	ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs758463317 RCV003166753 RCV001307862	120	P>L	Immunodeficiency 35 Inborn genetic diseases [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
RCV001122034 rs757581005 RCV003163276	124	R>C	Immunodeficiency 35 Inborn genetic diseases [ClinVar]	Yes	ClinVar ExAC dbSNP gnomAD
RCV001994402 rs2145273513	125	C>R	Immunodeficiency 35 [ClinVar]	Yes	ClinVar Ensembl dbSNP
rs1555720565 RCV000645228 CA658799145	129	G>missing	Immunodeficiency 35 [ClinVar]	Yes	ClinGen ClinVar dbSNP
rs766052825 RCV001864505	136	Q>K	Immunodeficiency 35 [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
rs768419755 RCV000930697	137	T>missing	Immunodeficiency 35 [ClinVar]	Yes	ClinVar dbSNP
RCV003413607 rs137904701 RCV000802854	146	P>L	Immunodeficiency 35 TYK2-related condition [ClinVar]	Yes	ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000820314 rs200718118 RCV003362977	150	E>G	Immunodeficiency 35 Inborn genetic diseases [ClinVar]	Yes	ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000210466 CA10575998 rs879253731	154	E>*	Immunodeficiency 35 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs531355933 RCV001299251	164	V>L	Immunodeficiency 35 [ClinVar]	Yes	ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs531355933 RCV001370170	164	V>M	Immunodeficiency 35 [ClinVar]	Yes	ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs370420133 RCV001127809	165	A>T	Immunodeficiency 35 [ClinVar]	Yes	ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs778545468 RCV001127807	169	E>K	Immunodeficiency 35 [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
RCV001918563 rs56222823	173	E>K	Immunodeficiency 35 [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
rs1297227067 RCV001949027	175	E>missing	Immunodeficiency 35 [ClinVar]	Yes	ClinVar dbSNP
rs780262705 RCV000698615	175	E>D	Immunodeficiency 35 [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
rs2145258740 RCV002035171	191	L>P	Immunodeficiency 35 [ClinVar]	Yes	ClinVar Ensembl dbSNP
rs373574074 RCV001227196 RCV002563108	194	L>F	Immunodeficiency 35 Inborn genetic diseases [ClinVar]	Yes	ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001214006 rs201107041	195	A>S	Immunodeficiency 35 [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
RCV000788828 rs201107041 RCV001856229	195	A>T	Immunodeficiency 35 [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
rs376427383 RCV000693275	197	R>C	Immunodeficiency 35 [ClinVar]	Yes	ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs12720263 RCV000542285 RCV000430674 VAR_020598 CA9193689	197	R>H	Immunodeficiency 35 [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs752615354 RCV000316044 CA9193688	201	P>L	Immunodeficiency 35 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000585248 CA631725524 RCV002285018 rs1555719963	216	P>R	Immunodeficiency 35 [ClinVar]	Yes	ClinGen ClinVar dbSNP
RCV000811838 rs754414161	217	R>C	Immunodeficiency 35 [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
RCV002540563 RCV001773113 rs373143912	217	R>H	Immunodeficiency 35 [ClinVar]	Yes	ClinVar ESP ExAC TOPMed dbSNP gnomAD
COSM1231471 RCV001053900 rs557436288	220	R>C	Immunodeficiency 35 large_intestine [ClinVar, Cosmic]	Yes	cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD
rs747608147 RCV000824579 RCV003344082	221	R>Q	Immunodeficiency 35 Inborn genetic diseases [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
CA9193653 RCV000387955 rs200858844	221	R>W	Immunodeficiency 35 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
COSM1231472 RCV000819655 rs920085264	224	R>W	Immunodeficiency 35 large_intestine [ClinVar, Cosmic]	Yes	cosmic curated ClinVar TOPMed dbSNP gnomAD
RCV001904446 rs761141309	231	R>P	Immunodeficiency 35 [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
COSM95423 rs761141309 RCV000685160	231	R>Q	lung Immunodeficiency 35 [Cosmic, ClinVar]	Yes	cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD
RCV001042442 rs201917359	231	R>W	Immunodeficiency 35 [ClinVar]	Yes	ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1296148213 RCV001955690	233	R>C	Immunodeficiency 35 [ClinVar]	Yes	ClinVar TOPMed dbSNP gnomAD
rs753240259 RCV001325140	233	R>H	Immunodeficiency 35 [ClinVar]	Yes	ClinVar ExAC dbSNP gnomAD
RCV001991685 rs907669947	235	R>Q	Immunodeficiency 35 [ClinVar]	Yes	ClinVar TOPMed dbSNP gnomAD
RCV001942668 rs767776173	235	R>W	Immunodeficiency 35 [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
RCV002006230 rs369423520	237	V>F	Immunodeficiency 35 [ClinVar]	Yes	ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs369423520 RCV000921240	237	V>I	Immunodeficiency 35 [ClinVar]	Yes	ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000798754 rs577896346	243	R>Q	Immunodeficiency 35 [ClinVar]	Yes	ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs200003143 RCV001125708 COSM327329	243	R>W	Immunodeficiency 35 oesophagus haematopoietic_and_lymphoid_tissue [ClinVar, Cosmic]	Yes	cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV001327031 rs1454450816	245	F>L	Immunodeficiency 35 [ClinVar]	Yes	ClinVar TOPMed dbSNP gnomAD
CA10642145 RCV000333386 rs886054134	246	Q>R	Immunodeficiency 35 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001051334 rs746989305	247	P>L	Immunodeficiency 35 [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
RCV001909163 rs2145252429	247	P>S	Immunodeficiency 35 [ClinVar]	Yes	ClinVar Ensembl dbSNP
RCV001888729 rs2145252243	250	L>P	Immunodeficiency 35 [ClinVar]	Yes	ClinVar Ensembl dbSNP
RCV000806809 rs775315394	265	R>Q	Immunodeficiency 35 [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
rs760177831 RCV000822817	265	R>W	Immunodeficiency 35 [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
CA9193611 RCV000797605 RCV003258850 rs368109068 RCV000521414	269	R>C	Immunodeficiency 35 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001981737 rs770841701	269	R>H	Immunodeficiency 35 [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
RCV000815669 rs1599351746	270	F>S	Immunodeficiency 35 [ClinVar]	Yes	ClinVar Ensembl dbSNP
RCV001362474 rs748218971	274	R>C	Immunodeficiency 35 [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
RCV001300762 rs371937276 COSM327328	274	R>H	Immunodeficiency 35 haematopoietic_and_lymphoid_tissue [ClinVar, Cosmic]	Yes	cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD
COSM248166 rs148520054 RCV001124702	277	V>M	Immunodeficiency 35 prostate [ClinVar, Cosmic]	Yes	cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001892450 rs2041627608	279	H>N	Immunodeficiency 35 [ClinVar]	Yes	ClinVar TOPMed dbSNP
RCV000816934 rs1599351623	284	A>T	Immunodeficiency 35 [ClinVar]	Yes	ClinVar Ensembl dbSNP
rs760138236 RCV001210709	287	E>D	Immunodeficiency 35 [ClinVar]	Yes	ExAC TOPMed gnomAD ClinVar dbSNP
RCV001367269 rs1415920933	287	E>K	Immunodeficiency 35 [ClinVar]	Yes	ClinVar TOPMed dbSNP gnomAD
RCV001881158 rs1415920933	287	E>Q	Immunodeficiency 35 [ClinVar]	Yes	ClinVar TOPMed dbSNP gnomAD
rs1191624543 RCV001908203	311	P>L	Immunodeficiency 35 [ClinVar]	Yes	ClinVar dbSNP gnomAD
RCV001349886 rs1354965673	312	P>L	Immunodeficiency 35 [ClinVar]	Yes	ClinVar TOPMed dbSNP
rs954391030 RCV001323121	313	T>A	Immunodeficiency 35 [ClinVar]	Yes	ClinVar TOPMed dbSNP gnomAD
rs2145250076 RCV001935888	313	T>I	Immunodeficiency 35 [ClinVar]	Yes	ClinVar Ensembl dbSNP
rs1443990878 RCV001234192	324	I>V	Immunodeficiency 35 [ClinVar]	Yes	ClinVar TOPMed dbSNP gnomAD
rs762767796 RCV001124701	325	Q>H	Immunodeficiency 35 [ClinVar]	Yes	ClinVar ExAC dbSNP
rs759288032 RCV001305990	329	V>I	Immunodeficiency 35 [ClinVar]	Yes	ClinVar TOPMed dbSNP gnomAD
rs886054133 CA10648163 RCV000309308	334	N>D	Immunodeficiency 35 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1599350449 RCV000810845	340	S>N	Immunodeficiency 35 [ClinVar]	Yes	ClinVar dbSNP gnomAD
RCV001345603 rs778243582	352	F>S	Immunodeficiency 35 [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
RCV001236408 rs373246540 RCV003365279	361	A>V	Immunodeficiency 35 Inborn genetic diseases [ClinVar]	Yes	ClinVar dbSNP gnomAD
RCV000245153 rs2304256 CA9193531 VAR_020599 RCV001668493 RCV000272963	362	V>F	Immunodeficiency 35 [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs2304255 VAR_020600 RCV000126190 CA291547 RCV000362720	363	G>S	Immunodeficiency 35 [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs373929549 RCV001248572	365	P>L	Immunodeficiency 35 [ClinVar]	Yes	ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000705443 RCV000494054 COSM990541 rs760895143 CA9193527	369	P>L	Immunodeficiency 35 endometrium [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD
rs550060811 RCV001123632	370	R>W	Immunodeficiency 35 [ClinVar]	Yes	ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs1038910642 RCV001324608	381	R>Q	Immunodeficiency 35 [ClinVar]	Yes	ClinVar dbSNP gnomAD
CA9193516 RCV000537655 rs201240289	381	R>W	Immunodeficiency 35 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001957309 rs2145243198	384	T>S	Immunodeficiency 35 [ClinVar]	Yes	ClinVar Ensembl dbSNP
VAR_041870 RCV001248048 rs55956017	386	V>M	Immunodeficiency 35 [ClinVar]	Yes	ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
rs2041581409 RCV001050152	400	N>K	Immunodeficiency 35 [ClinVar]	Yes	ClinVar Ensembl dbSNP
rs774318353 RCV001055706	403	L>V	Immunodeficiency 35 [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
rs755169274 RCV001341984	410	R>Q	Immunodeficiency 35 [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
RCV000707349 rs780993314	410	R>W	Immunodeficiency 35 [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
RCV001209486 rs371919786	412	A>V	Immunodeficiency 35 [ClinVar]	Yes	ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000803720 rs138661716	413	A>V	Immunodeficiency 35 [ClinVar]	Yes	ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000808876 rs776878637	417	V>M	Immunodeficiency 35 [ClinVar]	Yes	ClinVar ExAC dbSNP gnomAD
rs1236600614 RCV001206961	419	L>V	Immunodeficiency 35 [ClinVar]	Yes	ClinVar dbSNP gnomAD
RCV001923507 rs777227495 COSM3796561	425	R>C	Immunodeficiency 35 urinary_tract [ClinVar, Cosmic]	Yes	cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD
rs150601734 RCV001919382	425	R>H	Immunodeficiency 35 [ClinVar]	Yes	ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs748061804 RCV001922725	427	T>M	Immunodeficiency 35 [ClinVar]	Yes	ClinVar ExAC dbSNP gnomAD
RCV000545896 CA9193472 rs754798989	428	A>T	Immunodeficiency 35 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1270833514 RCV001912292	431	S>N	Immunodeficiency 35 [ClinVar]	Yes	ClinVar TOPMed dbSNP gnomAD
RCV001323455 rs764428779	433	Y>H	Immunodeficiency 35 [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
RCV002047447 rs770604675	441	P>R	Immunodeficiency 35 [ClinVar]	Yes	ClinVar ExAC dbSNP gnomAD
rs2304254 RCV001946186 VAR_037798	442	R>Q	Immunodeficiency 35 [ClinVar]	Yes	ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV001339107 rs762546704	442	R>W	Immunodeficiency 35 [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
RCV000704140 rs147991080	448	R>W	Immunodeficiency 35 [ClinVar]	Yes	ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1599346193 RCV000810846	459	F>L	Immunodeficiency 35 [ClinVar]	Yes	ClinVar Ensembl dbSNP
rs1338265886 RCV001232595	463	K>R	Immunodeficiency 35 [ClinVar]	Yes	ClinVar dbSNP gnomAD
RCV001211836 rs771922681	465	R>Q	Immunodeficiency 35 [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
rs371207387 RCV001926973	465	R>W	Immunodeficiency 35 [ClinVar]	Yes	ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000807477 rs779259245	467	E>K	Immunodeficiency 35 [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
rs141250995 RCV000796746	478	S>I	Immunodeficiency 35 [ClinVar]	Yes	ClinVar ESP TOPMed dbSNP gnomAD
rs146770568 RCV001123629	482	R>C	Immunodeficiency 35 [ClinVar]	Yes	ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV001940579 rs202083880	487	V>M	Immunodeficiency 35 [ClinVar]	Yes	ClinVar 1000Genomes dbSNP
RCV001883903 rs1349507320	489	Q>R	Immunodeficiency 35 [ClinVar]	Yes	ClinVar TOPMed dbSNP gnomAD
rs369615833 RCV000824553	490	R>H	Immunodeficiency 35 [ClinVar]	Yes	ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000704767 rs202072909	496	G>S	Immunodeficiency 35 [ClinVar]	Yes	ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001127715 rs751952281	497	M>L	Immunodeficiency 35 [ClinVar]	Yes	ExAC ClinVar dbSNP
RCV000788827 rs200643906 RCV001221143	501	R>Q	Immunodeficiency 35 [ClinVar]	Yes	ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV000761986 RCV001304907 rs756944840 COSM3403719	501	R>W	Immunodeficiency 35 central_nervous_system [ClinVar, Cosmic]	Yes	cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD
RCV001242455 rs541104349	503	R>Q	Immunodeficiency 35 [ClinVar]	Yes	ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV000703543 rs1568334900	511	D>Y	Immunodeficiency 35 [ClinVar]	Yes	ClinVar Ensembl dbSNP
RCV001341555 rs2041453734	512	G>E	Immunodeficiency 35 [ClinVar]	Yes	ClinVar Ensembl dbSNP
CA9193388 RCV003409520 RCV001894709 RCV000343272 RCV001753787 rs146786766	512	G>R	Immunodeficiency 35 TYK2-related condition [ClinVar]	Yes	ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD ClinGen
rs769911839 RCV001870989	515	V>M	Immunodeficiency 35 [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
CA9193384 rs142576987 RCV000558284	520	G>D	Immunodeficiency 35 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001127714 rs758682935	526	V>I	Immunodeficiency 35 [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
rs777266572 RCV001307128 RCV000520858 CA9193377	527	R>G	Immunodeficiency 35 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs755791270 RCV001229590 COSM1195689	527	R>Q	lung Immunodeficiency 35 [Cosmic, ClinVar]	Yes	cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD
RCV001313410 COSM990535 rs777266572	527	R>W	Immunodeficiency 35 endometrium [ClinVar, Cosmic]	Yes	cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD
rs375614264 RCV001231493	529	L>F	Immunodeficiency 35 [ClinVar]	Yes	ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001039251 rs768654573	541	G>R	Immunodeficiency 35 [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
rs747616008 RCV002557757 RCV001938341	543	D>N	Immunodeficiency 35 Inborn genetic diseases [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
RCV001961312 rs772532784	548	R>C	Immunodeficiency 35 [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
rs746253617 RCV000815070	548	R>H	Immunodeficiency 35 [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
RCV002010404 rs746253617	548	R>L	Immunodeficiency 35 [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
RCV002533612 RCV000701097 rs536181491	549	R>H	Immunodeficiency 35 Inborn genetic diseases [ClinVar]	Yes	ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV001994964 rs1456271893	551	C>W	Immunodeficiency 35 [ClinVar]	Yes	ClinVar TOPMed dbSNP gnomAD
rs887962195 RCV000804641	555	P>S	Immunodeficiency 35 [ClinVar]	Yes	ClinVar TOPMed dbSNP
rs758279947 RCV001905519	560	N>H	Immunodeficiency 35 [ClinVar]	Yes	ClinVar ExAC dbSNP gnomAD
RCV000698972 rs754148696	563	I>missing	Immunodeficiency 35 [ClinVar]	Yes	ClinVar dbSNP
rs72561470 RCV001299742	564	M>R	Immunodeficiency 35 [ClinVar]	Yes	ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001372736 rs1314158344	567	A>T	Immunodeficiency 35 [ClinVar]	Yes	ClinVar dbSNP gnomAD
COSM1269571 rs569896082 RCV002080272	568	R>W	Immunodeficiency 35 oesophagus [ClinVar, Cosmic]	Yes	cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV000815793 rs760031894	569	A>T	Immunodeficiency 35 [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
rs867249402 RCV001046441	571	P>S	Immunodeficiency 35 [ClinVar]	Yes	ClinVar TOPMed dbSNP gnomAD
RCV003170422 rs771605702 RCV002001316	583	R>Q	Immunodeficiency 35 Inborn genetic diseases [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
rs140594440 RCV000527931 CA9193284	603	V>M	Immunodeficiency 35 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs151252201 RCV001201473	607	R>C	Immunodeficiency 35 [ClinVar]	Yes	ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs759137101 RCV001037347	607	R>H	Immunodeficiency 35 [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
rs748626480 RCV001909254	609	R>Q	Immunodeficiency 35 [ClinVar]	Yes	ClinVar TOPMed dbSNP gnomAD
RCV001294945 rs2041422669	614	G>E	Immunodeficiency 35 [ClinVar]	Yes	ClinVar Ensembl dbSNP
rs764378445 RCV001909332	626	P>H	Immunodeficiency 35 [ClinVar]	Yes	ClinVar ExAC dbSNP gnomAD
rs972695864 RCV001326198	628	V>M	Immunodeficiency 35 [ClinVar]	Yes	ClinVar TOPMed dbSNP gnomAD
RCV000807215 rs769794516 COSM255687	633	R>H	Immunodeficiency 35 central_nervous_system [ClinVar, Cosmic]	Yes	cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD
rs189471343 RCV000892926	634	G>E	Immunodeficiency 35 [ClinVar]	Yes	ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs201025290 RCV000210459 CA354999	638	R>*	Immunodeficiency 35 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD
rs780399902 RCV001370681	638	R>L	Immunodeficiency 35 [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
rs780399902 RCV000810976	638	R>Q	Immunodeficiency 35 [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
RCV001889028 rs2145214611	640	V>A	Immunodeficiency 35 [ClinVar]	Yes	ClinVar Ensembl dbSNP
rs745986684 RCV001872815	642	K>R	Immunodeficiency 35 [ClinVar]	Yes	ClinVar ExAC dbSNP gnomAD
RCV001320708 rs144290894	652	A>T	Immunodeficiency 35 [ClinVar]	Yes	ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001864741 rs975547596	660	S>G	Immunodeficiency 35 [ClinVar]	Yes	ClinVar Ensembl dbSNP
rs146430107 RCV000803839 RCV000239218 CA9193219	668	T>M	Immunodeficiency 35 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001902399 rs1247499935 RCV002552168	671	A>T	Immunodeficiency 35 Inborn genetic diseases [ClinVar]	Yes	ClinVar dbSNP gnomAD
rs528691386 RCV000645230 CA9193217	673	V>L	Immunodeficiency 35 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs528691386 RCV002030406	673	V>M	Immunodeficiency 35 [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
rs2041401700 RCV001124616	675	G>S	Immunodeficiency 35 [ClinVar]	Yes	ClinVar Ensembl dbSNP
RCV000792110 RCV001550549 rs868590753	676	V>I	Immunodeficiency 35 [ClinVar]	Yes	ClinVar TOPMed dbSNP gnomAD
rs1555718506 CA404001677 RCV000645225	678	V>A	Immunodeficiency 35 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
RCV001999346 rs1568333725	678	V>M	Immunodeficiency 35 [ClinVar]	Yes	ClinVar Ensembl dbSNP
rs368828208 RCV001364910	679	R>C	Immunodeficiency 35 [ClinVar]	Yes	ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs200247986 RCV001923019	679	R>H	Immunodeficiency 35 [ClinVar]	Yes	ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs200247986 RCV001039676 RCV003222200	679	R>P	Immunodeficiency 35 [ClinVar]	Yes	ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs745582179 RCV001124615	680	G>S	Immunodeficiency 35 [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
rs1433952909 RCV001224408	681	P>S	Immunodeficiency 35 [ClinVar]	Yes	ClinVar dbSNP gnomAD
CA9193192 VAR_020286 rs12720356 RCV001618428 RCV000333160 RCV000242212	684	I>S	Immunodeficiency 35 [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001368143 rs752724238	690	V>M	Immunodeficiency 35 [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
rs754899482 RCV001044644	693	G>R	Immunodeficiency 35 [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
RCV001363142 RCV001751715 rs149540700	700	R>Q	Immunodeficiency 35 [ClinVar]	Yes	ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs200791116 RCV000913852 COSM1189868	701	R>T	lung Immunodeficiency 35 [Cosmic, ClinVar]	Yes	cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV000818377 rs552478414	703	R>Q	Immunodeficiency 35 [ClinVar]	Yes	ClinVar ExAC dbSNP gnomAD
CA9193179 RCV000645244 VAR_041871 rs55882956 RCV001618577	703	R>W	Immunodeficiency 35 [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs201502911 RCV000381768 CA9193175	708	M>I	Immunodeficiency 35 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC dbSNP gnomAD
RCV001956967 rs749003655	713	V>G	Immunodeficiency 35 [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
rs549371062 RCV001235120	724	Y>S	Immunodeficiency 35 [ClinVar]	Yes	ClinVar 1000Genomes ExAC dbSNP gnomAD
rs1316426026 RCV001901095	730	L>V	Immunodeficiency 35 [ClinVar]	Yes	ClinVar dbSNP gnomAD
RCV001123533 rs1038590632	733	G>S	Immunodeficiency 35 [ClinVar]	Yes	ClinVar TOPMed dbSNP gnomAD
RCV003164045 RCV002047266 rs754086085	735	V>A	Immunodeficiency 35 Inborn genetic diseases [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
RCV001227195 rs2041195057	740	I>V	Immunodeficiency 35 [ClinVar]	Yes	ClinVar TOPMed dbSNP
COSM1480517 rs142676100 RCV000795020	744	R>W	Immunodeficiency 35 breast [ClinVar, Cosmic]	Yes	cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs774929306 RCV001966011	758	S>T	Immunodeficiency 35 [ClinVar]	Yes	ClinVar ExAC dbSNP
RCV001441242 rs201335603	761	G>V	Immunodeficiency 35 [ClinVar]	Yes	ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs1197074529 RCV001320027	765	G>S	Immunodeficiency 35 [ClinVar]	Yes	ClinVar dbSNP gnomAD
RCV000144052 CA358697 rs869320745	768	S>*	Immunodeficiency 35 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV002023622 rs1322975760	769	R>K	Immunodeficiency 35 [ClinVar]	Yes	ClinVar TOPMed dbSNP gnomAD
RCV001905506 rs148823525	772	R>Q	Immunodeficiency 35 [ClinVar]	Yes	ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV001851304 rs755089851 RCV000489934 CA9193104	772	R>W	Immunodeficiency 35 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV002012594 rs1357157419	780	A>V	Immunodeficiency 35 [ClinVar]	Yes	ClinVar TOPMed dbSNP gnomAD
RCV002015258 rs2145185225	782	E>K	Immunodeficiency 35 [ClinVar]	Yes	ClinVar Ensembl dbSNP
RCV000645234 rs759014184 CA9193095	784	L>V	Immunodeficiency 35 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs972911609 CA305197838 RCV000645229	785	P>S	Immunodeficiency 35 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV001907465 rs1323264570	787	G>E	Immunodeficiency 35 [ClinVar]	Yes	ClinVar TOPMed dbSNP gnomAD
rs267605272 RCV001067332	787	G>R	Immunodeficiency 35 [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
rs773966828 CA9193090 RCV000238730 RCV001857835	791	L>missing	Immunodeficiency 35 [ClinVar]	Yes	ClinGen ClinVar dbSNP
RCV001893506 rs748433361	794	A>T	Immunodeficiency 35 [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
RCV001926999 RCV003312024 rs2145184643	798	W>*	Immunodeficiency 35 [ClinVar]	Yes	ClinVar Ensembl dbSNP
rs148148659 RCV001361987	802	A>T	Immunodeficiency 35 [ClinVar]	Yes	ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000645232 CA9193082 rs371070470	810	D>V	Immunodeficiency 35 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001352336 rs528324154	812	E>G	Immunodeficiency 35 [ClinVar]	Yes	ClinVar 1000Genomes ExAC dbSNP gnomAD
RCV001969644 rs752386163	813	A>S	Immunodeficiency 35 [ClinVar]	Yes	ClinVar ExAC dbSNP gnomAD
CA9193078 RCV000645231 rs143743593	814	P>L	Immunodeficiency 35 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000703540 rs751075108	818	R>C	Immunodeficiency 35 [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
rs145437969 RCV001057401	818	R>H	Immunodeficiency 35 [ClinVar]	Yes	ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001054158 rs763006605	819	S>N	Immunodeficiency 35 [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
RCV001086746 rs34046749 CA9193073 RCV000837112 VAR_037799	820	P>H	Immunodeficiency 35 [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001922961 rs1220172517	820	P>T	Immunodeficiency 35 [ClinVar]	Yes	ClinVar dbSNP gnomAD
RCV001925933 rs376161606	832	R>Q	Immunodeficiency 35 [ClinVar]	Yes	ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000413711 RCV001035187 rs144995884 CA9193025	832	R>W	Immunodeficiency 35 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000804141 rs748485968	834	P>S	Immunodeficiency 35 [ClinVar]	Yes	ClinVar ExAC dbSNP gnomAD
RCV001203936 rs757987854	835	E>Q	Immunodeficiency 35 [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
RCV000645227 rs1169822550 CA403992572	836	P>S	Immunodeficiency 35 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV001924408 rs914166364	843	T>I	Immunodeficiency 35 [ClinVar]	Yes	ClinVar TOPMed dbSNP gnomAD
RCV000707091 rs1209330159	845	T>I	Immunodeficiency 35 [ClinVar]	Yes	ClinVar TOPMed dbSNP
rs551747806 RCV001127631	853	P>R	Immunodeficiency 35 [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
RCV001381281 rs2145175361	858	S>*	Immunodeficiency 35 [ClinVar]	Yes	ClinVar Ensembl dbSNP
RCV001967101 rs776925265	868	R>Q	Immunodeficiency 35 [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
rs762311335 RCV003425901 COSM4138196 RCV001056211	868	R>W	Immunodeficiency 35 pancreas [ClinVar, Cosmic]	Yes	cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD
rs200472642 RCV001438735	871	P>S	Immunodeficiency 35 [ClinVar]	Yes	ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001046711 rs745552967	872	H>Q	Immunodeficiency 35 [ClinVar]	Yes	ClinVar ExAC dbSNP gnomAD
RCV001979132 rs146540753	877	V>I	Immunodeficiency 35 [ClinVar]	Yes	ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs1140385 RCV000816224	882	P>L	Immunodeficiency 35 [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
rs750627511 RCV001301628 RCV002543087	883	D>G	Immunodeficiency 35 Inborn genetic diseases [ClinVar]	Yes	ClinVar ExAC dbSNP gnomAD
RCV000812633 rs377212879	885	P>T	Immunodeficiency 35 [ClinVar]	Yes	ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV002244127 rs764682808	886	A>E	Immunodeficiency 35 [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
rs776000744 RCV000807341	887	S>W	Immunodeficiency 35 [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
rs201456217 RCV000821696	888	D>E	Immunodeficiency 35 [ClinVar]	Yes	ESP ExAC TOPMed gnomAD ClinVar dbSNP
RCV000799014 rs372017111	896	Y>C	Immunodeficiency 35 [ClinVar]	Yes	ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs963707334 RCV001243665	926	M>I	Immunodeficiency 35 [ClinVar]	Yes	TOPMed ClinVar dbSNP
RCV000284384 RCV000513917 rs35018800 VAR_041873 CA9192922 RCV001085272	928	A>V	Immunodeficiency 35 [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV002036313 rs56255228	931	A>V	Immunodeficiency 35 [ClinVar]	Yes	ClinVar ExAC dbSNP gnomAD
RCV000700765 rs1489073249	938	P>A	Immunodeficiency 35 [ClinVar]	Yes	ClinVar TOPMed dbSNP
rs2040960541 RCV001917820	941	R>G	Immunodeficiency 35 [ClinVar]	Yes	ClinVar Ensembl dbSNP
rs758656059 RCV001304591	962	Y>C	Immunodeficiency 35 [ClinVar]	Yes	ClinVar ExAC dbSNP gnomAD
rs763754692 RCV000698622	966	C>G	Immunodeficiency 35 [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
rs2036762184 RCV001912009	967	E>G	Immunodeficiency 35 [ClinVar]	Yes	ClinVar TOPMed dbSNP
rs1438500444 RCV001374130	968	D>Y	Immunodeficiency 35 [ClinVar]	Yes	ClinVar TOPMed dbSNP gnomAD
RCV001241806 rs2040927992	973	S>A	Immunodeficiency 35 [ClinVar]	Yes	ClinVar Ensembl dbSNP
RCV001951673 rs531721749	979	E>K	Immunodeficiency 35 [ClinVar]	Yes	ClinVar 1000Genomes ExAC dbSNP gnomAD
RCV002019350 rs2145149687	985	S>C	Immunodeficiency 35 [ClinVar]	Yes	ClinVar Ensembl dbSNP
rs765912261 RCV001337437	989	Y>C	Immunodeficiency 35 [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
COSM1231474 RCV001322819 rs370401636	992	R>W	Immunodeficiency 35 large_intestine [ClinVar, Cosmic]	Yes	cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs201397594 RCV001402078	993	H>Y	Immunodeficiency 35 [ClinVar]	Yes	ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs764232789 RCV003413849 RCV001049974	995	I>V	Immunodeficiency 35 [ClinVar]	Yes	ClinVar ExAC dbSNP gnomAD
rs772177678 RCV001943978 RCV002562053	996	G>R	Immunodeficiency 35 Inborn genetic diseases [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
RCV001064713 rs202110875	1004	A>G	Immunodeficiency 35 [ClinVar]	Yes	ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV001906695 RCV002555407 rs566658678	1024	L>I	Immunodeficiency 35 Inborn genetic diseases [ClinVar]	Yes	ClinVar 1000Genomes TOPMed dbSNP
RCV001305278 rs771434577	1026	A>T	Immunodeficiency 35 [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
RCV001914569 rs763514629	1032	D>E	Immunodeficiency 35 [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
rs1568326297 RCV001980950	1050	E>A	Immunodeficiency 35 [ClinVar]	Yes	ClinVar Ensembl dbSNP
rs2040886709 RCV001901052	1060	D>H	Immunodeficiency 35 [ClinVar]	Yes	ClinVar TOPMed dbSNP
RCV001223575 rs1300605416	1064	P>R	Immunodeficiency 35 [ClinVar]	Yes	ClinVar TOPMed dbSNP gnomAD
RCV001124526 rs2040862596	1079	Y>C	Immunodeficiency 35 [ClinVar]	Yes	ClinVar Ensembl dbSNP
RCV000357031 rs776034616 CA9192783	1080	Y>C	Immunodeficiency 35 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001995235 rs2040862056	1081	A>G	Immunodeficiency 35 [ClinVar]	Yes	ClinVar Ensembl dbSNP
RCV001243007 rs750525541	1103	S>G	Immunodeficiency 35 [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
RCV000528354 CA291554 RCV000126195 rs34536443 RCV001701518 VAR_041874	1104	P>A	Immunodeficiency 35 [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV002021353 rs2145127143 COSM141542	1109	L>F	Immunodeficiency 35 upper_aerodigestive_tract [ClinVar, Cosmic]	Yes	cosmic curated ClinVar Ensembl dbSNP
RCV001912057 rs753179617	1109	L>R	Immunodeficiency 35 [ClinVar]	Yes	ClinVar ExAC dbSNP gnomAD
RCV001894334 rs1568324534	1117	G>C	Immunodeficiency 35 [ClinVar]	Yes	ClinVar dbSNP gnomAD
RCV001327154 rs768580902	1120	T>R	Immunodeficiency 35 [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
RCV001965245 rs1298150782	1129	E>G	Immunodeficiency 35 [ClinVar]	Yes	ClinVar dbSNP gnomAD
rs746144391 RCV001903144	1129	E>Q	Immunodeficiency 35 [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
rs779037308 RCV001990579	1130	R>G	Immunodeficiency 35 [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
rs756742784 RCV001965653	1136	R>Q	Immunodeficiency 35 [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
RCV001864566 rs751899914	1140	C>S	Immunodeficiency 35 [ClinVar]	Yes	ClinVar ExAC dbSNP gnomAD
RCV000700589 rs753470142	1159	R>S	Immunodeficiency 35 [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
RCV002014375 rs905890917	1161	T>A	Immunodeficiency 35 [ClinVar]	Yes	ClinVar dbSNP gnomAD
VAR_041875 RCV000553570 CA9192704 rs55886939 RCV000603506	1163	E>G	Immunodeficiency 35 [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs529855217 RCV001124525	1163	E>K	Immunodeficiency 35 [ClinVar]	Yes	ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV002033817 rs1469065798	1174	E>K	Immunodeficiency 35 [ClinVar]	Yes	ClinVar TOPMed dbSNP gnomAD
rs747542256 RCV001067143	1178	G>S	Immunodeficiency 35 [ClinVar]	Yes	ClinVar ExAC dbSNP gnomAD
rs1233179704 RCV001349521	1181	P>L	Immunodeficiency 35 [ClinVar]	Yes	ClinVar dbSNP gnomAD
rs1311022826 RCV001995277	1182	S>P	Immunodeficiency 35 [ClinVar]	Yes	ClinVar dbSNP gnomAD
rs754920273 RCV002002230	1186	V>M	Immunodeficiency 35 [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
CA9192683 RCV000645226 rs200932305	1187	C>Y	Immunodeficiency 35 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs1285567005	2	P>L		No	TOPMed gnomAD
rs1004722306	2	P>S		No	TOPMed gnomAD
RCV001772545 rs1218057452	5	H>Q		No	ClinVar dbSNP gnomAD
rs371166091	6	W>*		No	Ensembl
rs533026972	6	W>G		No	1000Genomes ExAC TOPMed gnomAD
rs771091357	7	G>E		No	ExAC gnomAD
rs995711325	8	M>I		No	TOPMed gnomAD
rs562457260	8	M>L		No	1000Genomes ExAC TOPMed gnomAD
rs773382803	9	A>G		No	ExAC gnomAD
rs1321742051	9	A>T		No	gnomAD
rs773382803	9	A>V		No	ExAC gnomAD
rs900008134	11	G>D		No	gnomAD
rs900008134	11	G>V		No	gnomAD
rs2042247046	14	P>S		No	Ensembl
rs778732100	17	D>G		No	ExAC gnomAD
rs1051345509	19	A>V		No	Ensembl
rs753407156	20	Q>P		No	ExAC TOPMed gnomAD
rs753407156	20	Q>R		No	ExAC TOPMed gnomAD
rs1599370160	22	M>R		No	Ensembl
rs1599370160	22	M>T		No	Ensembl
rs2042245924	24	A>T		No	Ensembl
rs1388609058	25	M>I		No	TOPMed
rs755570432	25	M>V		No	ExAC gnomAD
rs752684154	29	K>Q		No	ExAC TOPMed gnomAD
rs1335649847	35	A>T		No	TOPMed
rs978916286	37	P>L		No	gnomAD
rs978916286	37	P>R		No	gnomAD
rs766133942	39	G>V		No	ExAC TOPMed gnomAD
rs761736148	42	P>H		No	1000Genomes ExAC TOPMed gnomAD
rs2042244330	43	W>G		No	Ensembl
rs1222690580	46	F>S		No	gnomAD
rs777293951	48	E>V		No	ExAC gnomAD
rs1049998858	49	S>L		No	TOPMed
rs1387248228	50	S>P		No	TOPMed gnomAD
rs931666925	51	L>P		No	TOPMed gnomAD
rs931666925	51	L>Q		No	TOPMed gnomAD
rs2042243634	51	L>V		No	gnomAD
rs921579430	52	T>I		No	TOPMed
rs1484227289	52	T>P		No	TOPMed gnomAD
rs2042242880	57	C>S		No	TOPMed gnomAD
rs755663053	60	I>L		No	ExAC TOPMed gnomAD
rs755663053	60	I>V		No	ExAC TOPMed gnomAD
rs2145370916	61	A>P		No	Ensembl
rs1434247208	62	H>Y		No	TOPMed gnomAD
rs1399398857	64	V>A		No	TOPMed gnomAD
rs774905892	67	T>I		No	ExAC TOPMed gnomAD
rs1599356131	67	T>P		No	Ensembl
rs1045396233	68	P>T		No	Ensembl
rs2041763923	73	L>F		No	TOPMed gnomAD
rs150861764	75	A>D		No	1000Genomes ESP ExAC gnomAD
rs2041763574	75	A>S		No	Ensembl
rs150861764	75	A>V		No	1000Genomes ESP ExAC gnomAD
rs1420420519	79	A>V		No	gnomAD
rs972420234	80	Q>H		No	TOPMed gnomAD
rs752941433	81	A>S		No	ExAC TOPMed gnomAD
rs752941433	81	A>T		No	ExAC TOPMed gnomAD
VAR_037797 rs1049619	81	A>V		No	UniProt Ensembl dbSNP
rs1163009373	82	Q>*		No	gnomAD
rs2041762478	83	V>I		No	Ensembl
rs1224824249	84	W>*		No	gnomAD
rs141466711	86	P>S		No	ESP ExAC TOPMed gnomAD
rs752013617	88	N>D		No	ExAC gnomAD
rs1490056740	90	I>T		No	gnomAD
rs765557425	94	P>L		No	ExAC gnomAD
rs2041760993	97	A>T		No	Ensembl
rs775200017	99	L>P		No	ExAC TOPMed gnomAD
rs1599355950	102	Y>C		No	Ensembl
rs551925120	104	R>C		No	1000Genomes ExAC TOPMed gnomAD
rs770951647	105	I>M		No	ExAC TOPMed gnomAD
rs1029569489	105	I>V		No	TOPMed gnomAD
rs749206339	106	R>T		No	ExAC gnomAD
rs1361836365	116	N>H		No	TOPMed gnomAD
rs1361836365	116	N>Y		No	TOPMed gnomAD
rs138742402	118	R>W		No	ESP ExAC TOPMed gnomAD
rs758463317	120	P>Q		No	ExAC TOPMed gnomAD
rs199807224	120	P>S		No	1000Genomes ExAC TOPMed gnomAD
rs779331912	121	A>S		No	ExAC TOPMed gnomAD
rs779331912	121	A>T		No	ExAC TOPMed gnomAD
rs78529614	122	V>G		No	Ensembl
rs1238838283	122	V>M		No	TOPMed gnomAD
rs1599355641	123	Y>S		No	Ensembl
rs542503483	124	R>H		No	TOPMed gnomAD
rs2145273488	125	C>F		No	Ensembl
rs1308616286	127	P>L		No	gnomAD
rs1013930418	128	P>S		No	TOPMed
rs754709072	131	E>K		No	ExAC TOPMed gnomAD
rs2041750912	132	A>V		No	TOPMed
rs267605274	133	S>F		No	Ensembl
rs751242030	133	S>P		No	ExAC gnomAD
rs762486838	136	Q>H		No	ExAC TOPMed gnomAD
rs149044054	137	T>R		No	ESP ExAC TOPMed gnomAD
rs2041749897	139	Q>R		No	TOPMed
rs2041749425	141	M>T		No	TOPMed
rs887883177	143	L>F		No	TOPMed gnomAD
rs761545778	143	L>P		No	ExAC TOPMed gnomAD
rs150331673	147	A>D		No	ESP ExAC TOPMed gnomAD
rs150331673	147	A>V		No	ESP ExAC TOPMed gnomAD
rs2041748095	149	F>I		No	TOPMed
rs1394628611	149	F>S		No	TOPMed
rs200718118	150	E>A		No	ESP ExAC TOPMed gnomAD
rs1391138496	150	E>K		No	TOPMed gnomAD
rs748728253	151	Y>I		No	ExAC
rs745894180	152	L>F		No	ExAC TOPMed gnomAD
rs1355892968	152	L>R		No	gnomAD
rs745894180	152	L>V		No	ExAC TOPMed gnomAD
rs2145259861	156	G>C		No	Ensembl
rs956505107	157	K>E		No	Ensembl
rs770297599	158	H>R		No	ExAC TOPMed gnomAD
rs2145259750	160	F>L		No	Ensembl
rs896099330	163	D>N		No	TOPMed
rs1421177533	167	L>P		No	gnomAD
rs1421177533	167	L>R		No	gnomAD
rs2145259477	168	W>R		No	Ensembl
rs1478105936	169	E>G		No	TOPMed gnomAD
rs756721201	171	S>L		No	ExAC TOPMed gnomAD
rs2145259361	171	S>T		No	Ensembl
rs1216286893	172	T>I		No	gnomAD
rs1216286893	172	T>S		No	gnomAD
rs2041673901	173	E>G		No	TOPMed
rs1317667304	174	E>K		No	1000Genomes gnomAD
rs1036351961	175	E>K		No	Ensembl
rs1229377703	176	I>F		No	TOPMed gnomAD
rs774432571	176	I>M		No	ExAC gnomAD
rs766483793	177	H>Y		No	ExAC TOPMed gnomAD
rs368015938	178	H>Q		No	ESP ExAC TOPMed gnomAD
rs1379159900	182	E>G		No	TOPMed gnomAD
rs1295028551	183	S>N		No	TOPMed gnomAD
rs1295028551	183	S>T		No	TOPMed gnomAD
rs2041672433	185	G>R		No	TOPMed
rs773791531	187	A>G		No	ExAC TOPMed gnomAD
rs773791531	187	A>V		No	ExAC TOPMed gnomAD
rs748635672	189	L>R		No	ExAC gnomAD
rs200899341	190	H>Q		No	ExAC TOPMed gnomAD
rs769132153	193	H>Y		No	ExAC gnomAD
rs376427383	197	R>G		No	ESP ExAC TOPMed gnomAD
rs12720263	197	R>L		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1236519861	198	H>L		No	gnomAD
rs1236519861	198	H>R		No	gnomAD
rs2041670326	199	G>D		No	Ensembl
rs1320075621	201	P>A		No	TOPMed
rs1320075621	201	P>S		No	TOPMed
rs1320075621	201	P>T		No	TOPMed
rs2041669490	203	E>D		No	1000Genomes TOPMed
rs2145258333	203	E>Q		No	Ensembl
rs375654286	213	D>E		No	ESP ExAC TOPMed gnomAD
rs1401498201	213	D>N		No	gnomAD
rs2041641390	214	C>G		No	Ensembl
rs1161844370	214	C>Y		No	gnomAD
rs1258866138	216	P>L		No	TOPMed gnomAD
rs373143912	217	R>P		No	ESP ExAC TOPMed gnomAD
rs1264694020	218	S>C		No	gnomAD
rs1450696759	219	F>L		No	TOPMed gnomAD
rs1287239935	219	F>L		No	TOPMed gnomAD
rs561118378	220	R>H		No	1000Genomes ExAC TOPMed gnomAD
rs561118378	220	R>L		No	1000Genomes ExAC TOPMed gnomAD
rs1260200109	223	I>M		No	Ensembl
rs768516447	224	R>Q		No	ExAC TOPMed gnomAD
rs1407480759	225	Q>*		No	gnomAD
rs779772705	225	Q>H		No	ExAC TOPMed gnomAD
rs746945505	225	Q>L		No	ExAC gnomAD
rs758211254	227	S>C		No	ExAC TOPMed gnomAD
rs758211254	227	S>G		No	ExAC TOPMed gnomAD
rs779224297	228	A>T		No	ExAC TOPMed gnomAD
rs1477382730	228	A>V		No	gnomAD
rs974734307	229	L>P		No	TOPMed
rs757438993	229	L>V		No	ExAC gnomAD
rs1599352162	230	T>P		No	Ensembl
rs2041636319	234	L>F		No	TOPMed
rs574338177	239	R>C		No	TOPMed gnomAD
rs769396613	239	R>H		No	ExAC TOPMed gnomAD
rs995853405	240	R>G		No	TOPMed
rs1245382426	240	R>K		No	gnomAD
rs2145252755	240	R>S		No	Ensembl
rs761425610	241	F>L		No	ExAC gnomAD
rs1403120552	241	F>L		No	gnomAD
rs1432138907	242	L>V		No	gnomAD
rs577896346	243	R>P		No	1000Genomes ExAC TOPMed gnomAD
rs1027570271	244	D>V		No	Ensembl
rs974773190	246	Q>H		No	gnomAD
rs771780732	248	G>V		No	ExAC gnomAD
rs1209311064	249	R>*		No	TOPMed gnomAD
rs1477479813	249	R>L		No	TOPMed
rs1477479813	249	R>Q		No	TOPMed
rs1276586270	250	L>F		No	gnomAD
rs1599351932	251	S>P		No	Ensembl
rs2041632153	253	Q>H		No	TOPMed gnomAD
rs151106021	254	M>I		No	ESP ExAC TOPMed gnomAD
rs757598903	254	M>L		No	ExAC gnomAD
rs757598903	254	M>V		No	ExAC gnomAD
rs1445075795	255	V>I		No	TOPMed gnomAD
rs777779509	256	M>I		No	ExAC TOPMed gnomAD
rs2041631801	256	M>V		No	gnomAD
rs756150650	257	V>F		No	ExAC TOPMed gnomAD
rs1167820981	258	K>N		No	TOPMed gnomAD
rs1599351862	259	Y>S		No	Ensembl
rs751960706	262	T>I		No	ExAC gnomAD
rs938643963	263	L>I		No	TOPMed gnomAD
rs938643963	263	L>V		No	TOPMed gnomAD
rs776344287	264	E>Q		No	ExAC gnomAD
rs760177831	265	R>G		No	ExAC TOPMed gnomAD
rs1599351776	267	A>G		No	Ensembl
rs2041629888	268	P>L		No	Ensembl
rs368109068	269	R>G		No	1000Genomes ESP ExAC TOPMed gnomAD
rs770841701 RCV002272095	269	R>L		No	ClinVar ExAC TOPMed dbSNP gnomAD
rs770841701	269	R>P		No	ExAC TOPMed gnomAD
rs200948099	270	F>L		No	1000Genomes ExAC TOPMed gnomAD
rs756169718	271	G>S		No	ExAC gnomAD
rs368634384	275	V>M		No	ESP ExAC gnomAD
rs1414912281	276	P>S		No	gnomAD
rs148520054	277	V>L		No	ESP ExAC TOPMed gnomAD
rs2041627608	279	H>Y		No	TOPMed
rs753449931	282	L>V		No	ExAC TOPMed gnomAD
rs1163828789	283	L>V		No	gnomAD
rs2041626647	285	Q>*		No	Ensembl
rs1568338003	288	G>R		No	TOPMed
rs775110100	288	G>V		No	ExAC gnomAD
rs1262559015	289	E>K		No	gnomAD
rs373767400	291	C>R		No	ESP ExAC TOPMed gnomAD
rs2041625494	292	Y>N		No	TOPMed
rs774360882	292	Y>S		No	ExAC gnomAD
rs773337151	293	I>F		No	ExAC gnomAD
rs773337151	293	I>L		No	ExAC gnomAD
rs201811978	294	R>Q		No	1000Genomes ExAC TOPMed gnomAD
rs367656874 COSM3764689	294	R>W	central_nervous_system [Cosmic]	No	cosmic curated ESP ExAC TOPMed gnomAD
rs755047988	296	S>N		No	ExAC gnomAD
rs1385255112	297	G>R		No	gnomAD
rs1599351495	298	V>G		No	Ensembl
rs2041623859	300	P>L		No	TOPMed
rs2041623629	301	T>A		No	Ensembl
rs2041623511	301	T>I		No	TOPMed
rs780484848	302	D>G		No	ExAC gnomAD
rs758787673	303	P>L		No	ExAC gnomAD
rs1450814673	304	G>A		No	TOPMed
rs76731525	311	P>S		No	ExAC gnomAD
rs76731525	311	P>T		No	ExAC gnomAD
rs2145250138	312	P>S		No	Ensembl
COSM710226 rs1275439476	315	E>K	lung [Cosmic]	No	cosmic curated TOPMed gnomAD
rs1275439476	315	E>Q		No	TOPMed gnomAD
rs1599351400	316	V>G		No	Ensembl
rs1214635518	318	V>M		No	gnomAD
rs759056776	320	G>D		No	ExAC TOPMed gnomAD
rs2041621249	320	G>S		No	TOPMed
rs751562996	322	G>D		No	ExAC gnomAD
rs2041620624	323	G>D		No	Ensembl
rs2041620413	324	I>T		No	Ensembl
rs766378705	325	Q>*		No	ExAC gnomAD
rs2145249597	326	W>*		No	1000Genomes
rs1384708218	327	W>*		No	gnomAD
rs1300231749	327	W>R		No	gnomAD
rs1384708218	327	W>S		No	gnomAD
rs2041619812	328	P>Q		No	TOPMed
rs759288032	329	V>L		No	TOPMed gnomAD
rs1474898906	330	E>G		No	Ensembl
rs1330626259	331	E>K		No	TOPMed gnomAD
rs769463058	332	E>K		No	ExAC TOPMed gnomAD
rs1599351282	333	V>G		No	Ensembl
rs1158281328	333	V>L		No	TOPMed
rs1158281328	333	V>M		No	TOPMed
rs1398063368	334	N>K		No	gnomAD
rs566200184	334	N>S		No	1000Genomes
rs1403344013	335	K>R		No	TOPMed
rs2041618116	336	E>G		No	Ensembl
rs2145249129	337	E>Q		No	Ensembl
rs1280660239	338	G>S		No	gnomAD
rs1238960077	339	S>C		No	gnomAD
rs1599350449	340	S>I		No	gnomAD
rs201539384	342	S>R		No	gnomAD
rs557381252	343	S>R		No	1000Genomes TOPMed gnomAD
rs2041592793	344	G>V		No	Ensembl
rs772036333	345	R>S		No	ExAC
rs990373812	346	N>D		No	Ensembl
rs1599350382	346	N>K		No	Ensembl
rs746387608	346	N>T		No	ExAC gnomAD
rs2041591248	347	P>L		No	Ensembl
rs2041591455	347	P>S		No	gnomAD
rs771378431	348	Q>K		No	ExAC gnomAD
rs1377334885	351	L>P		No	TOPMed gnomAD
rs1377334885	351	L>R		No	TOPMed gnomAD
rs1568337298	353	G>R		No	Ensembl
rs1405988744	355	K>T		No	gnomAD
rs746601876	357	K>E		No	ExAC gnomAD
rs1199943420	357	K>T		No	TOPMed gnomAD
rs1568337264	358	A>T		No	Ensembl
rs779714598	358	A>V		No	ExAC TOPMed gnomAD
rs757840772	359	H>R		No	ExAC TOPMed gnomAD
rs1251900547	360	K>R		No	TOPMed gnomAD
rs1175058910	361	A>S		No	TOPMed gnomAD
rs1357257262	364	Q>P		No	TOPMed
rs373929549	365	P>R		No	ESP ExAC TOPMed gnomAD
rs2041586280	368	R>K		No	TOPMed
rs960318312	368	R>S		No	gnomAD
rs759514762	370	R>Q		No	ExAC gnomAD
rs2041585371	371	E>K		No	TOPMed
rs749765579	373	L>P		No	ExAC TOPMed gnomAD
rs749765579	373	L>R		No	ExAC TOPMed gnomAD
rs1401699873	374	W>*		No	gnomAD
rs1047955219	375	A>G		No	gnomAD
rs773725258	375	A>T		No	ExAC TOPMed gnomAD
rs200944224	376	Y>F		No	TOPMed
rs746724395	378	C>G		No	ExAC TOPMed gnomAD
rs746724395	378	C>R		No	ExAC TOPMed gnomAD
rs955743773	379	D>N		No	TOPMed gnomAD
rs779557763	379	D>V		No	ExAC gnomAD
rs745336770	383	I>F		No	ExAC TOPMed gnomAD
rs1201859920	383	I>M		No	TOPMed gnomAD
rs1599350039	384	T>P		No	Ensembl
rs202170617	385	H>Q		No	TOPMed gnomAD
COSM341120 rs55956017	386	V>L	lung [Cosmic]	No	cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs567828853	387	V>L		No	1000Genomes ExAC TOPMed gnomAD
rs567828853	387	V>M		No	1000Genomes ExAC TOPMed gnomAD
rs1412901766	391	H>Y		No	Ensembl
rs755894129	392	C>Y		No	ExAC gnomAD
rs759765277	397	R>Q		No	ExAC TOPMed gnomAD
rs767606287	397	R>W		No	ExAC TOPMed gnomAD
rs1443699251	404	E>D		No	gnomAD
rs146249132	407	L>S		No	ESP ExAC TOPMed gnomAD
rs146249132	407	L>W		No	ESP ExAC TOPMed gnomAD
rs2041576126	408	P>L		No	gnomAD
rs199855412	409	S>F		No	1000Genomes ExAC gnomAD
rs551839011	411	A>P		No	1000Genomes ExAC gnomAD
rs551839011	411	A>S		No	1000Genomes ExAC gnomAD
rs551839011	411	A>T		No	1000Genomes ExAC gnomAD
rs371919786	412	A>G		No	ESP ExAC TOPMed gnomAD
rs1414050867	412	A>P		No	TOPMed
rs2041574179	414	L>P		No	Ensembl
rs759111483	418	S>*		No	ExAC gnomAD
rs759111483	418	S>L		No	ExAC gnomAD
rs770480398	421	D>H		No	ExAC gnomAD
rs770480398	421	D>N		No	ExAC gnomAD
rs150601734	425	R>L		No	ESP ExAC TOPMed gnomAD
rs72561497	428	A>G		No	Ensembl
rs750559048	429	D>A		No	ExAC gnomAD
rs758589580	429	D>H		No	ExAC TOPMed gnomAD
rs758589580 RCV002263137	429	D>N		No	ClinVar ExAC TOPMed dbSNP gnomAD
rs2041570283	430	S>*		No	Ensembl
rs2041570042	430	S>C		No	TOPMed gnomAD
rs765355958	430	S>P		No	ExAC gnomAD
rs2041569756	431	S>G		No	gnomAD
rs2041569527	431	S>R		No	TOPMed
rs1485432796	432	H>Q		No	gnomAD
rs754300804	432	H>R		No	ExAC gnomAD
rs764428779	433	Y>N		No	ExAC TOPMed gnomAD
rs1599349530	436	H>P		No	Ensembl
rs761081566	437	E>D		No	ExAC gnomAD
COSM438471 rs934439485	437	E>K	breast [Cosmic]	No	cosmic curated TOPMed gnomAD
rs934439485	437	E>Q		No	TOPMed gnomAD
rs112400058	438	V>A		No	Ensembl
rs2041568439	438	V>L		No	TOPMed
rs2041568103	439	A>S		No	TOPMed
rs1214227511	440	P>L		No	gnomAD
rs924340057	440	P>T		No	TOPMed gnomAD
rs770604675	441	P>L		No	ExAC gnomAD
rs770604675	441	P>Q		No	ExAC gnomAD
rs1354030729	444	V>G		No	gnomAD
rs1190179644	445	M>T		No	Ensembl
rs748101413	448	R>Q		No	ExAC TOPMed gnomAD
rs1383575031	449	D>E		No	gnomAD
rs1160256584	450	G>R		No	TOPMed gnomAD
rs1599349387	450	G>V		No	Ensembl
rs1388904663	451	I>M		No	gnomAD
rs768383720	453	G>R		No	ExAC TOPMed gnomAD
rs2041468621	458	P>A		No	TOPMed
rs1467547849	460	V>M		No	gnomAD
rs1255229652	461	Q>R		No	gnomAD
rs1214718708	462	A>S		No	TOPMed gnomAD
rs771922681	465	R>L		No	ExAC TOPMed gnomAD
rs1355888837	466	P>R		No	TOPMed gnomAD
rs1599346102	468	D>A		No	Ensembl
rs143427712	469	G>S		No	ESP ExAC TOPMed gnomAD
rs2041466812	469	G>V		No	Ensembl
rs1394141303	471	Y>C		No	gnomAD
rs1394141303	471	Y>S		No	gnomAD
rs756660036	472	L>F		No	ExAC gnomAD
rs1054075618	472	L>H		No	Ensembl
rs756660036	472	L>I		No	ExAC gnomAD
rs1390821577	473	I>F		No	gnomAD
rs1235007387	474	H>Q		No	gnomAD
rs1236031831	474	H>R		No	Ensembl
rs2041465825	474	H>Y		No	Ensembl
rs1173114520	476	S>N		No	gnomAD
rs1472692082	477	T>A		No	Ensembl
rs2041465121	477	T>I		No	TOPMed gnomAD
rs1472692082	477	T>P		No	Ensembl
rs1599346003	479	H>P		No	Ensembl
rs2041464452	479	H>Q		No	gnomAD
rs1599346003	479	H>R		No	Ensembl
rs1418449956	481	Y>D		No	TOPMed gnomAD
CA305205004 rs146770568 RCV000489138	482	R>G		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs767936553	482	R>H		No	ExAC TOPMed gnomAD
rs767936553	482	R>L		No	ExAC TOPMed gnomAD
rs202083880	487	V>L		No	1000Genomes
rs1231448106	489	Q>*		No	gnomAD
rs2041463067	489	Q>H		No	gnomAD
rs138697511	490	R>C		No	ESP ExAC TOPMed gnomAD
rs958324131	493	A>S		No	TOPMed gnomAD
rs958324131	493	A>T		No	TOPMed gnomAD
rs1237503748	494	P>A		No	TOPMed gnomAD
rs1237503748 COSM327323	494	P>S	haematopoietic_and_lymphoid_tissue [Cosmic]	No	cosmic curated TOPMed gnomAD
rs1191859876	495	D>Y		No	gnomAD
rs1209338992	496	G>V		No	gnomAD
rs780231093	497	M>T		No	ExAC gnomAD
rs1357623241	502	L>P		No	gnomAD
rs763723182	503	R>*		No	ExAC TOPMed gnomAD
rs866325130	504	K>N		No	Ensembl
rs2041454703	505	F>L		No	Ensembl
rs1436515737	506	P>L		No	gnomAD
rs767598972	508	E>G		No	ExAC gnomAD
rs759501152	510	Q>H		No	ExAC TOPMed gnomAD
rs2041453601	514	F>L		No	TOPMed
rs767422168	517	E>Q		No	Ensembl
rs1189096779	518	G>S		No	gnomAD
rs1468000439	519	W>R		No	TOPMed gnomAD
rs56299955	521	R>G		No	ExAC TOPMed gnomAD
rs546087218	521	R>Q		No	1000Genomes ExAC TOPMed gnomAD
rs56299955	521	R>W		No	ExAC TOPMed gnomAD
rs62130727	522	S>A		No	Ensembl
rs1392753548	523	F>S		No	TOPMed gnomAD
rs2041451639	524	P>R		No	Ensembl
rs867884211	524	P>S		No	TOPMed
rs1321650863	525	S>G		No	TOPMed gnomAD
rs1214256720	525	S>I		No	gnomAD
rs755791270	527	R>L		No	ExAC TOPMed gnomAD
rs762634663	534	Q>*		No	ExAC TOPMed gnomAD
rs762634663	534	Q>E		No	ExAC TOPMed gnomAD
rs1407896206	536	C>G		No	gnomAD
rs765473652	539	R>S		No	ExAC gnomAD
rs575869664	540	A>S		No	1000Genomes ExAC gnomAD
rs1568334743	541	G>E		No	TOPMed gnomAD
rs768654573	541	G>W		No	ExAC TOPMed gnomAD
rs747616008	543	D>H		No	ExAC TOPMed gnomAD
rs945507300	546	S>F		No	Ensembl
rs78089853	549	R>C		No	1000Genomes ExAC TOPMed gnomAD
rs1456271893	551	C>*		No	TOPMed gnomAD
rs2041447366	551	C>Y		No	gnomAD
rs1599345018	552	L>R		No	Ensembl
rs1279366775	553	P>L		No	gnomAD
rs887962195	555	P>T		No	TOPMed
rs1355927286	556	G>R		No	gnomAD
rs1308330667	556	G>V		No	gnomAD
rs1555718748	558	T>I		No	Ensembl
rs762690898	561	L>R		No	Ensembl
rs2145218856	562	I>L		No	Ensembl
rs2041439920	564	M>L		No	Ensembl
rs72561470	564	M>T		No	ESP ExAC TOPMed gnomAD
rs764267766	565	R>L		No	ExAC TOPMed gnomAD
rs764267766	565	R>P		No	ExAC TOPMed gnomAD
RCV000984873 rs764267766	565	R>Q		No	ClinVar ExAC TOPMed dbSNP gnomAD
rs776940518 COSM180585	565	R>W	large_intestine [Cosmic]	No	cosmic curated ExAC TOPMed gnomAD
rs371176574	566	G>E		No	gnomAD
rs1269197445	566	G>R		No	gnomAD
rs1314158344	567	A>P		No	gnomAD
rs369300627	568	R>Q		No	ESP ExAC TOPMed gnomAD
rs774986370	570	S>N		No	ExAC TOPMed gnomAD
rs774986370	570	S>T		No	ExAC TOPMed gnomAD
rs771472882	571	P>L		No	ExAC TOPMed gnomAD
rs1461063359	572	R>G		No	TOPMed gnomAD
rs1461063359	572	R>W		No	TOPMed gnomAD
rs1167247189	574	L>H		No	gnomAD
rs1568334430	575	N>S		No	Ensembl
rs2041436344	576	L>V		No	TOPMed gnomAD
rs1568334422	578	Q>H		No	Ensembl
rs768214067	582	H>R		No	ExAC TOPMed gnomAD
rs1466656613	582	H>Y		No	gnomAD
rs771605702	583	R>P		No	ExAC TOPMed gnomAD
rs746612618	583	R>W		No	ExAC TOPMed gnomAD
rs1245130080	584	V>L		No	gnomAD
rs2041434635	586	Q>R		No	TOPMed
rs2041434488	587	K>R		No	TOPMed gnomAD
rs150068365	588	E>K		No	ESP ExAC TOPMed gnomAD
rs757081324	589	I>M		No	ExAC TOPMed gnomAD
rs753661594	590	T>I		No	ExAC TOPMed gnomAD
rs753661594	590	T>N		No	ExAC TOPMed gnomAD
rs2041426344	592	L>M		No	TOPMed gnomAD
rs1599344143	592	L>Q		No	Ensembl
COSM1611481 rs2041426084	593	S>C	liver [Cosmic]	No	cosmic curated Ensembl
rs751712753	594	H>D		No	ExAC gnomAD
rs1400167058	594	H>Q		No	TOPMed gnomAD
rs751712753	594	H>Y		No	ExAC gnomAD
rs1437896674	596	G>A		No	TOPMed gnomAD
rs997074267	598	G>D		No	TOPMed gnomAD
rs373737829	602	N>S		No	ESP ExAC TOPMed gnomAD
rs111592075	603	V>E		No	Ensembl
rs1319678038	604	Y>F		No	TOPMed gnomAD
rs2145215750	605	E>D		No	Ensembl
rs151252201	607	R>S		No	ESP ExAC TOPMed gnomAD
rs770426879	608	L>R		No	ExAC TOPMed gnomAD
rs749285570	609	R>*		No	ExAC TOPMed gnomAD
rs748626480	609	R>L		No	TOPMed gnomAD
rs2041423487	610	V>L		No	gnomAD
rs773183691	612	G>S		No	ExAC gnomAD
rs769518067	613	S>T		No	ExAC
rs547427284	614	G>R		No	1000Genomes ExAC TOPMed gnomAD
rs2041422437	615	D>H		No	TOPMed
rs865816160	616	P>S		No	TOPMed gnomAD
rs780346579	617	E>D		No	ExAC TOPMed gnomAD
rs2145215284	617	E>V		No	Ensembl
rs2041421697	618	E>*		No	TOPMed
rs1033724818	619	G>D		No	TOPMed gnomAD
rs758539496	621	M>R		No	ExAC gnomAD
rs140078545	623	D>E		No	1000Genomes ESP ExAC TOPMed gnomAD
rs765740248	624	E>K		No	ExAC TOPMed gnomAD
rs757660890	625	D>E		No	ExAC gnomAD
rs2041420937	625	D>N		No	TOPMed
rs754249816	626	P>A		No	ExAC TOPMed gnomAD
rs754249816	626	P>S		No	ExAC TOPMed gnomAD
rs754249816	626	P>T		No	ExAC TOPMed gnomAD
rs918183702	627	L>F		No	Ensembl
rs546346744	631	R>S		No	1000Genomes ExAC gnomAD
COSM1231470 rs772558245	633	R>C	large_intestine [Cosmic]	No	cosmic curated ExAC TOPMed gnomAD
rs772558245	633	R>G		No	ExAC TOPMed gnomAD
rs769794516	633	R>L		No	ExAC TOPMed gnomAD
rs189471343	634	G>A		No	1000Genomes ExAC TOPMed gnomAD
rs554716704	635	Q>K		No	Ensembl
rs768565773	636	E>Q		No	ExAC gnomAD
rs201025290	638	R>G		No	1000Genomes ExAC gnomAD
rs952473488	641	L>P		No	Ensembl
rs1191795420	643	V>A		No	TOPMed gnomAD
rs1599343789	645	D>A		No	Ensembl
rs574835456	646	P>L		No	1000Genomes ExAC gnomAD
rs2041417022	649	H>R		No	TOPMed
rs2041416894	650	D>N		No	Ensembl
rs144290894	652	A>S		No	ESP ExAC TOPMed gnomAD
rs2041416174	652	A>V		No	Ensembl
rs764154157	656	Y>*		No	ExAC TOPMed gnomAD
rs1438089684	657	E>K		No	TOPMed gnomAD
rs1199762336	659	A>S		No	TOPMed gnomAD
rs1327849170	660	S>N		No	gnomAD
rs868498627	661	L>F		No	Ensembl
rs2041404017	662	M>I		No	1000Genomes gnomAD
rs139954108	662	M>T		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1743006188	663	S>G		No	Ensembl
rs1169101536	663	S>T		No	gnomAD
rs771694964	666	S>C		No	ExAC gnomAD
rs1180459797	667	H>Q		No	TOPMed gnomAD
rs1192143220	669	H>P		No	gnomAD
rs1478274323	669	H>Q		No	gnomAD
rs1181796644	671	A>V		No	gnomAD
rs1019896036	672	F>L		No	TOPMed gnomAD
rs2041402081	673	V>G		No	Ensembl
rs1206433575	674	H>Y		No	gnomAD
rs372854123	676	V>A		No	ESP TOPMed gnomAD
rs868590753	676	V>F		No	TOPMed gnomAD
rs142894621	681	P>H		No	Ensembl
rs2041272783	683	N>S		No	Ensembl
rs12720356	684	I>T		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1207586206	685	M>I		No	TOPMed
rs1457621080	685	M>V		No	gnomAD
rs1393700751	687	T>A		No	TOPMed gnomAD
rs1393700751	687	T>P		No	TOPMed gnomAD
rs187919920	689	Y>*		No	1000Genomes ESP ExAC TOPMed gnomAD
rs752724238	690	V>L		No	ExAC TOPMed gnomAD
rs2041270491	691	E>K		No	TOPMed gnomAD
rs2145196306	692	H>R		No	Ensembl
rs2041270364	692	H>Y		No	TOPMed
rs751325446	694	P>S		No	ExAC gnomAD
rs1487307243	695	L>P		No	TOPMed gnomAD
rs1266622951	697	V>L		No	TOPMed gnomAD
rs1266622951	697	V>M		No	TOPMed gnomAD
rs766131781	700	R>W		No	ExAC TOPMed gnomAD
rs2041269055	701	R>G		No	Ensembl
rs55882956	703	R>G		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1365752883	704	G>D		No	TOPMed gnomAD
rs375987424	705	H>N		No	ExAC gnomAD
rs2041268029	705	H>R		No	Ensembl
rs375987424	705	H>Y		No	ExAC gnomAD
rs769066197	706	V>M		No	ExAC TOPMed gnomAD
rs1346847897	708	M>T		No	gnomAD
rs1432198072	708	M>V		No	TOPMed gnomAD
rs1198599024	709	A>T		No	gnomAD
rs2041266947	709	A>V		No	TOPMed
rs1269000315	710	W>*		No	gnomAD
rs1431865844	710	W>G		No	gnomAD
rs775719808	712	M>I		No	ExAC TOPMed gnomAD
rs1038803054	712	M>T		No	TOPMed gnomAD
rs749003655	713	V>A		No	ExAC TOPMed gnomAD
rs772557126	713	V>L		No	ExAC TOPMed gnomAD
rs772557126	713	V>M		No	ExAC TOPMed gnomAD
rs150720314	714	V>A		No	ESP ExAC TOPMed gnomAD
rs150720314	714	V>G		No	ESP ExAC TOPMed gnomAD
rs1398915422	716	Q>*		No	Ensembl
rs762885974	720	S>R		No	ExAC gnomAD
rs747686692	721	A>S		No	ExAC TOPMed gnomAD
rs747686692 COSM1711805	721	A>T	skin [Cosmic]	No	cosmic curated ExAC TOPMed gnomAD
rs943066074	721	A>V		No	Ensembl
rs549371062	724	Y>C		No	1000Genomes ExAC gnomAD
rs758289235	727	N>D		No	ExAC gnomAD
rs1243177756	727	N>K		No	gnomAD
rs758289235	727	N>Y		No	ExAC gnomAD
rs2041197650	731	V>A		No	TOPMed
VAR_041872	732	H>R	a colorectal adenocarcinoma sample; somatic mutation [UniProt]	No	UniProt
rs778617703	733	G>V		No	ExAC gnomAD
rs1389321602	734	N>D		No	TOPMed gnomAD
rs1473534133	735	V>M		No	gnomAD
rs1187901726	737	G>S		No	TOPMed gnomAD
rs367584686	738	R>G		No	ESP ExAC TOPMed gnomAD
rs760784092	738	R>Q		No	ExAC TOPMed gnomAD
rs367584686	738	R>W		No	ESP ExAC TOPMed gnomAD
rs1447813079	741	L>V		No	TOPMed gnomAD
rs752681469	743	A>T		No	ExAC gnomAD
rs1208124694	743	A>V		No	gnomAD
rs142676100	744	R>G		No	ESP ExAC TOPMed gnomAD
rs942849080	744	R>Q		No	TOPMed gnomAD
rs766849246	747	L>S		No	ExAC gnomAD
rs761433536	750	G>A		No	ExAC TOPMed gnomAD
rs768089228	751	T>I		No	ExAC gnomAD
rs1599336704	751	T>P		No	Ensembl
rs534486657	752	S>G		No	1000Genomes ExAC gnomAD
rs2041192281	752	S>N		No	TOPMed
rs1414549586	755	I>V		No	TOPMed gnomAD
rs772006960	758	S>R		No	ExAC gnomAD
rs958274716	760	P>A		No	TOPMed gnomAD
rs958274716	760	P>S		No	TOPMed gnomAD
rs958274716	760	P>T		No	TOPMed gnomAD
rs201335603	761	G>A		No	1000Genomes ExAC TOPMed gnomAD
rs745738702	761	G>C		No	ExAC TOPMed gnomAD
rs368361707	762	V>M		No	ESP ExAC TOPMed gnomAD
rs1260104968	764	L>Q		No	gnomAD
rs756243321	765	G>A		No	ExAC gnomAD
rs756243321	765	G>D		No	ExAC gnomAD
rs752837292	766	A>T		No	ExAC TOPMed gnomAD
rs1599336544	767	L>V		No	Ensembl
rs148823525	772	R>P		No	1000Genomes ExAC TOPMed gnomAD
rs1226025531	773	V>L		No	gnomAD
rs765449778	775	R>G		No	ExAC gnomAD
rs760441861	775	R>K		No	ExAC TOPMed gnomAD
rs1447231489	777	P>L		No	gnomAD
rs1447231489	777	P>R		No	gnomAD
rs1831789461	778	W>S		No	Ensembl
rs1599336225	779	L>R		No	Ensembl
rs1357157419	780	A>D		No	TOPMed gnomAD
rs1357157419	780	A>G		No	TOPMed gnomAD
rs1426074950	784	L>P		No	gnomAD
rs2041180635	785	P>L		No	Ensembl
rs773804132	786	G>A		No	ExAC TOPMed gnomAD
rs773804132	786	G>D		No	ExAC TOPMed gnomAD
rs773804132	786	G>V		No	ExAC TOPMed gnomAD
rs267605272	787	G>W		No	ExAC TOPMed gnomAD
rs1393057323	788	A>D		No	TOPMed gnomAD
rs1435248084	789	N>D		No	TOPMed
rs1195523174	791	L>V		No	gnomAD
rs773126586	792	S>I		No	ExAC TOPMed gnomAD
rs2041178551	794	A>D		No	TOPMed
rs748433361	794	A>S		No	ExAC TOPMed gnomAD
rs1017504081 COSM95421	795	M>V	ovary [Cosmic]	No	cosmic curated Ensembl
rs1203299758	796	D>A		No	gnomAD
rs1203299758	796	D>G		No	gnomAD
rs1462090710	797	K>T		No	gnomAD
rs1267074110	798	W>C		No	gnomAD
rs781536408	799	G>R		No	ExAC TOPMed gnomAD
rs779936481	802	A>V		No	ExAC gnomAD
rs2145184483	806	E>K		No	Ensembl
rs567907124	807	I>F		No	1000Genomes
rs546402387	807	I>M		No	1000Genomes ExAC TOPMed gnomAD
rs1250128520	811	G>R		No	TOPMed gnomAD
rs752386163	813	A>P		No	ExAC gnomAD
rs752386163	813	A>T		No	ExAC gnomAD
rs143743593	814	P>R		No	ESP ExAC TOPMed gnomAD
rs200110018	816	Q>H		No	1000Genomes ExAC TOPMed gnomAD
rs1186016471	816	Q>R		No	gnomAD
rs34046749	820	P>L		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1220172517	820	P>S		No	gnomAD
rs1381320026	822	E>G		No	TOPMed gnomAD
rs777406666	822	E>K		No	ExAC TOPMed gnomAD
rs1313271605	823	K>R		No	TOPMed gnomAD
rs1271530022	825	H>Y		No	gnomAD
rs1201856789	827	Y>C		No	gnomAD
rs2041121626	829	R>M		No	Ensembl
rs901262733	829	R>W		No	gnomAD
rs1377141522	831	H>D		No	TOPMed
rs1377141522	831	H>Y		No	TOPMed
rs748485968	834	P>A		No	ExAC gnomAD
rs757987854	835	E>K		No	ExAC TOPMed gnomAD
rs2041119996	836	P>L		No	TOPMed
rs113278597	837	S>P		No	Ensembl
rs2041119613	838	C>F		No	TOPMed
rs373150366	839	P>A		No	ESP ExAC TOPMed gnomAD
rs373150366	839	P>S		No	ESP ExAC TOPMed gnomAD
rs2145175916	840	Q>E		No	Ensembl
rs78888573	841	L>P		No	Ensembl
rs778619604	843	T>P		No	ExAC gnomAD
rs1204474924	844	L>F		No	gnomAD
rs756802293	844	L>P		No	ExAC gnomAD
rs1209330159	845	T>N		No	TOPMed
rs777884552	845	T>P		No	ExAC gnomAD
rs2041116630	847	Q>H		No	Ensembl
rs756027807	848	C>Y		No	ExAC gnomAD
rs1441627423	850	T>I		No	gnomAD
rs990113574	850	T>S		No	Ensembl
rs1419153127	851	Y>*		No	TOPMed
rs1599333692	851	Y>C		No	Ensembl
rs936927398	853	P>A		No	TOPMed gnomAD
rs936927398	853	P>T		No	TOPMed gnomAD
rs1439963615	854	T>N		No	gnomAD
rs1439963615	854	T>S		No	gnomAD
rs2041115304	854	T>S		No	TOPMed gnomAD
rs2041115053	857	P>Q		No	Ensembl
rs1356003138	857	P>S		No	gnomAD
rs141267897	859	F>L		No	ESP TOPMed
rs1405594069 COSM3403718	860	R>C	central_nervous_system [Cosmic]	No	cosmic curated TOPMed gnomAD
rs766486735	860	R>H		No	ExAC TOPMed gnomAD
rs766486735	860	R>L		No	ExAC TOPMed gnomAD
rs763055442	861	T>I		No	ExAC gnomAD
rs2041113801	862	I>N		No	TOPMed
rs2041113698	863	L>Q		No	TOPMed gnomAD
rs773231487	864	R>C		No	ExAC TOPMed gnomAD
rs770219068	864	R>H		No	ExAC gnomAD
rs2041113288	866	L>F		No	TOPMed
rs2041113288	866	L>V		No	TOPMed
rs979791609	867	T>I		No	TOPMed
rs776925265	868	R>P		No	ExAC TOPMed gnomAD
rs2040990487	873	N>S		No	gnomAD
rs2040990487	873	N>T		No	gnomAD
rs2145158845	876	D>A		No	Ensembl
rs781222747	876	D>E		No	ExAC TOPMed gnomAD
rs1445669955	876	D>H		No	gnomAD
rs146540753	877	V>F		No	ESP ExAC TOPMed gnomAD
rs146540753	877	V>L		No	ESP ExAC TOPMed gnomAD
rs2145158730	878	L>W		No	Ensembl
rs1257251989	879	T>I		No	TOPMed gnomAD
rs1486532255	879	T>S		No	gnomAD
rs1140385	882	P>R		No	ExAC TOPMed gnomAD
rs1242204488	882	P>T		No	gnomAD
rs1023689349	884	S>L		No	Ensembl
rs372612272	885	P>L		No	ESP ExAC TOPMed gnomAD
rs372612272	885	P>Q		No	ESP ExAC TOPMed gnomAD
rs764682808	886	A>V		No	ExAC TOPMed gnomAD
rs776000744	887	S>L		No	ExAC TOPMed gnomAD
rs2040986831	888	D>Y		No	Ensembl
rs1364239011	890	T>A		No	gnomAD
rs1303144673	890	T>M		No	TOPMed gnomAD
rs1303144673	890	T>R		No	TOPMed gnomAD
rs1219943578	891	V>F		No	TOPMed
rs769293044	893	H>R		No	ExAC TOPMed gnomAD
rs1355131193	893	H>Y		No	gnomAD
rs1312028368	894	K>R		No	TOPMed gnomAD
rs1568328042	895	R>C		No	Ensembl
rs775948909	896	Y>*		No	ExAC TOPMed gnomAD
rs768589194	898	K>R		No	ExAC gnomAD
rs1419869463	900	I>M		No	gnomAD
rs1362257311	902	D>G		No	gnomAD
rs1263817677	903	L>M		No	TOPMed gnomAD
rs995547125	904	G>D		No	gnomAD
rs2040966315	908	F>I		No	Ensembl
rs771188635	912	S>G		No	ExAC TOPMed gnomAD
rs778049174	914	Y>C		No	ExAC gnomAD
rs749465990	914	Y>H		No	ExAC TOPMed gnomAD
rs2145155594	915	C>F		No	Ensembl
rs139288588	917	D>G		No	ESP ExAC gnomAD
rs781770609	919	T>A		No	ExAC gnomAD
rs2040964074	920	N>K		No	TOPMed
rs755488436	920	N>S		No	ExAC TOPMed gnomAD
rs751960997	921	D>E		No	ExAC gnomAD
rs2040963839	921	D>G		No	TOPMed
rs2040963961	921	D>N		No	Ensembl
rs1350090662	922	G>A		No	gnomAD
rs1201082056	922	G>R		No	TOPMed gnomAD
rs1201082056	922	G>S		No	TOPMed gnomAD
rs1303466514	925	E>K		No	TOPMed gnomAD
rs1568327700	927	V>L		No	Ensembl
rs1599329211	929	V>G		No	Ensembl
rs56255228	931	A>D		No	ExAC gnomAD
rs1223123955	932	L>V		No	TOPMed gnomAD
rs1259025854	933	K>R		No	TOPMed gnomAD
rs1779342816	934	A>G		No	TOPMed
rs1234035792	936	C>R		No	TOPMed gnomAD
rs760207885	940	H>Q		No	ExAC TOPMed gnomAD
rs2040960820	940	H>R		No	TOPMed
rs2040960541	941	R>C		No	Ensembl
rs554711523	941	R>L		No	1000Genomes ExAC TOPMed gnomAD
rs2040960226	942	S>L		No	TOPMed
rs2040960226	942	S>W		No	TOPMed
rs772009258	943	G>V		No	ExAC gnomAD
rs759322708	944	W>L		No	ExAC TOPMed gnomAD
rs1599329079	945	K>*		No	Ensembl
rs1384603186	945	K>R		No	gnomAD
rs1446271264	947	E>K		No	gnomAD
rs754351041	948	I>T		No	ExAC TOPMed gnomAD
rs2040959148	948	I>V		No	Ensembl
rs749565585	949	D>A		No	ExAC TOPMed gnomAD
rs1259764841	950	I>S		No	gnomAD
rs778172039	951	L>Q		No	ExAC gnomAD
rs2040958196	952	R>C		No	Ensembl
rs770093652	953	T>M		No	ExAC gnomAD
rs755578020	956	H>Q		No	ExAC gnomAD
rs536463214	956	H>R		No	1000Genomes ExAC gnomAD
rs752000972	957	E>K		No	ExAC
rs758656059	962	Y>S		No	ExAC gnomAD
rs1400138297	963	K>M		No	gnomAD
rs1400138297	963	K>R		No	gnomAD
rs1363743411	964	G>A		No	TOPMed gnomAD
rs142592789	965	C>S		No	ESP
rs763754692	966	C>R		No	ExAC TOPMed gnomAD
rs763754692	966	C>S		No	ExAC TOPMed gnomAD
rs1343421360	966	C>Y		No	gnomAD
rs2145153954	967	E>K		No	Ensembl
rs1599328906	968	D>A		No	Ensembl
rs1301255042	969	Q>E		No	gnomAD
rs2040928330	970	G>D		No	Ensembl
rs2040928094	972	K>Q		No	gnomAD
rs2040927869	973	S>L		No	Ensembl
rs746369465	978	M>I		No	ExAC gnomAD
rs2040927598	978	M>T		No	TOPMed
rs567693879	979	E>G		No	1000Genomes
rs780731468	980	Y>C		No	ExAC gnomAD
rs749613263	980	Y>N		No	ExAC gnomAD
rs34669146	981	V>L		No	Ensembl
rs1240956008	982	P>S		No	gnomAD
rs886468039	986	L>I		No	gnomAD
rs1283425784	988	D>N		No	TOPMed gnomAD
rs751038982	988	D>V		No	ExAC gnomAD
rs1006410018	991	P>S		No	TOPMed
rs148484862	993	H>Q		No	1000Genomes ESP ExAC TOPMed gnomAD
rs753617141	994	S>N		No	ExAC TOPMed gnomAD
rs760882131	995	I>T		No	ExAC gnomAD
rs901645819	998	A>V		No	Ensembl
rs1382973354	999	Q>E		No	gnomAD
rs1183268796	1001	L>M		No	gnomAD
rs1039399074	1002	L>F		No	TOPMed gnomAD
rs1213116642	1005	Q>L		No	TOPMed gnomAD
rs1213116642	1005	Q>R		No	TOPMed gnomAD
rs866757379	1006	Q>H		No	Ensembl
rs749667172	1007	I>M		No	ExAC gnomAD
rs771379400	1007	I>V		No	ExAC gnomAD
rs865983705	1008	C>*		No	gnomAD
rs2040921977	1008	C>G		No	TOPMed
rs1357044386	1009	E>G		No	gnomAD
rs2040894617	1012	A>G		No	TOPMed
rs1197009454	1015	H>Q		No	gnomAD
rs17851123	1016	A>S		No	Ensembl
rs1166439365	1017	Q>E		No	Ensembl
rs1140386	1017	Q>H		No	Ensembl
rs1320020750	1018	H>Q		No	gnomAD
rs2040893037	1022	R>*		No	TOPMed
rs566658678	1024	L>V		No	1000Genomes TOPMed
COSM327319 rs1387668386	1027	R>H	haematopoietic_and_lymphoid_tissue [Cosmic]	No	cosmic curated gnomAD
rs1373078172	1028	N>S		No	gnomAD
rs773509142	1033	N>D		No	ExAC TOPMed gnomAD
rs746684874	1035	R>S		No	ExAC TOPMed gnomAD
rs771797877	1037	V>G		No	ExAC gnomAD
rs1288943396	1037	V>I		No	TOPMed
rs745380943	1038	K>N		No	ExAC gnomAD
rs965811921	1044	L>V		No	TOPMed
rs1243503286	1047	A>D		No	TOPMed gnomAD
rs2040889076	1047	A>S		No	Ensembl
rs2040888509	1048	V>M		No	TOPMed
rs1234844803	1049	P>L		No	TOPMed gnomAD
rs1051871523	1049	P>S		No	Ensembl
rs777476878	1050	E>D		No	ExAC gnomAD
COSM2156983 rs1342998501	1050	E>K	central_nervous_system [Cosmic]	No	cosmic curated gnomAD
rs1446351986	1051	G>C		No	Ensembl
rs752395240	1053	E>*		No	ExAC gnomAD
rs752395240 COSM3821840	1053	E>K	breast [Cosmic]	No	cosmic curated ExAC gnomAD
rs1599326555	1054	Y>D		No	Ensembl
rs1242838061	1058	R>H		No	gnomAD
rs2040886709	1060	D>N		No	TOPMed
rs1599326537	1062	D>N		No	Ensembl
rs1599326537	1062	D>Y		No	Ensembl
rs756679670	1066	F>S		No	TOPMed gnomAD
rs2040863766	1070	P>L		No	TOPMed gnomAD
rs1488791465	1072	C>F		No	TOPMed gnomAD
rs777199847	1076	Y>C		No	ExAC TOPMed gnomAD
rs764538190	1077	K>Q		No	ExAC gnomAD
rs774114889	1078	F>L		No	ExAC gnomAD
rs1400535971	1080	Y>H		No	TOPMed gnomAD
rs2040862056	1081	A>V		No	Ensembl
rs368043817	1085	W>*		No	ESP ExAC TOPMed gnomAD
rs368043817	1085	W>C		No	ESP ExAC TOPMed gnomAD
rs772530051	1087	F>C		No	ExAC gnomAD
rs748066182	1088	G>R		No	ExAC gnomAD
rs748066182	1088	G>W		No	ExAC gnomAD
rs574392004	1089	V>M		No	1000Genomes
rs781016462	1092	Y>F		No	ExAC TOPMed gnomAD
rs754738606	1097	H>Y		No	ExAC TOPMed gnomAD
rs1453713240	1098	C>*		No	gnomAD
rs746770166	1100	S>C		No	ExAC TOPMed gnomAD
rs757843261	1103	S>N		No	ExAC TOPMed gnomAD
rs757843261	1103	S>T		No	ExAC TOPMed gnomAD
rs1273045901	1104	P>L		No	gnomAD
rs764595468	1105	P>A		No	ExAC TOPMed gnomAD
rs2040858677	1105	P>H		No	TOPMed
rs2040858677	1105	P>R		No	TOPMed
rs764595468	1105	P>S		No	ExAC TOPMed gnomAD
rs764595468	1105	P>T		No	ExAC TOPMed gnomAD
rs368830574	1106	T>K		No	ESP ExAC TOPMed gnomAD
rs200050053	1107	K>E		No	ExAC gnomAD
rs200050053	1107	K>Q		No	ExAC gnomAD
rs753179617	1109	L>H		No	ExAC gnomAD
rs750010598	1112	I>K		No	ExAC gnomAD
rs750010598	1112	I>T		No	ExAC gnomAD
COSM990516 rs762714067	1112	I>V	endometrium [Cosmic]	No	cosmic curated ExAC gnomAD
rs764901051	1113	G>D		No	ExAC TOPMed gnomAD
rs1211701761	1114	I>L		No	TOPMed gnomAD
rs1211701761	1114	I>V		No	TOPMed gnomAD
rs751227017	1115	A>S		No	ExAC TOPMed gnomAD
rs751227017	1115	A>T		No	ExAC TOPMed gnomAD
rs2040782027	1115	A>V		No	TOPMed
rs910109361	1116	Q>P		No	Ensembl
rs776058143	1118	Q>H		No	ExAC gnomAD
rs768580902	1120	T>I		No	ExAC TOPMed gnomAD
rs2040780540	1122	L>M		No	Ensembl
rs771744174	1125	T>I		No	ExAC TOPMed gnomAD
rs771744174	1125	T>N		No	ExAC TOPMed gnomAD
rs878967376	1126	E>D		No	gnomAD
rs1374059220	1126	E>K		No	gnomAD
RCV000489725 rs779037308 CA9192737	1130	R>*		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1291092209	1130	R>Q		No	gnomAD
rs2040778738	1132	E>D		No	Ensembl
rs1028647585	1133	R>M		No	Ensembl
rs985971307	1135	P>A		No	TOPMed gnomAD
rs985971307	1135	P>S		No	TOPMed gnomAD
rs756742784	1136	R>L		No	ExAC TOPMed gnomAD
rs756742784	1136	R>P		No	ExAC TOPMed gnomAD
rs777995149 COSM990514	1136	R>W	endometrium [Cosmic]	No	cosmic curated ExAC TOPMed gnomAD
rs2145126358	1137	P>L		No	Ensembl
rs755326679	1138	D>E		No	ExAC TOPMed gnomAD
rs375731934	1138	D>N		No	ESP ExAC TOPMed gnomAD
rs375731934	1138	D>Y		No	ESP ExAC TOPMed gnomAD
rs954140460	1139	K>Q		No	TOPMed
rs1286460624	1140	C>W		No	gnomAD
rs2040776814	1140	C>Y		No	TOPMed
rs781570376	1144	V>A		No	ExAC TOPMed gnomAD
rs2040770032	1148	M>L		No	Ensembl
rs1487399788	1148	M>T		No	gnomAD
rs1245150772	1153	E>G		No	gnomAD
rs747336784	1154	T>I		No	ExAC gnomAD
rs2040769384	1155	E>K		No	gnomAD
rs1348367985	1155	E>V		No	TOPMed gnomAD
rs1238108854	1156	A>T		No	TOPMed
rs143538128	1156	A>V		No	1000Genomes ESP ExAC TOPMed gnomAD
rs2145125067	1157	S>C		No	Ensembl
rs753470142	1159	R>C		No	ExAC TOPMed gnomAD
rs2040768420	1159	R>H		No	TOPMed
rs2040767979	1161	T>I		No	TOPMed
rs2040767979	1161	T>N		No	TOPMed
rs2040767979	1161	T>S		No	TOPMed
rs752249209	1162	F>L		No	TOPMed gnomAD
rs1664596296	1162	F>Y		No	TOPMed
rs529855217	1163	E>Q		No	1000Genomes ExAC TOPMed gnomAD
rs1441173196	1164	N>D		No	gnomAD
rs1568324210	1164	N>K		No	Ensembl
rs1399163030	1165	L>R		No	gnomAD
rs766254130	1166	I>L		No	ExAC TOPMed gnomAD
rs763305318	1166	I>M		No	ExAC
rs766254130	1166	I>V		No	ExAC TOPMed gnomAD
rs2040766020	1167	P>L		No	TOPMed
rs547174683	1168	I>V		No	1000Genomes ExAC gnomAD
rs1431173917	1170	K>E		No	TOPMed gnomAD
rs1393936841	1173	H>P		No	TOPMed
rs748187204	1173	H>Q		No	ExAC gnomAD
rs1393936841	1173	H>R		No	TOPMed
rs2040765327	1173	H>Y		No	Ensembl
rs377283866	1175	K>N		No	ESP ExAC TOPMed gnomAD
rs769105292	1176	Y>F		No	ExAC TOPMed gnomAD
rs1599322631	1177	Q>*		No	Ensembl
rs747542256	1178	G>R		No	ExAC gnomAD
rs780450125	1179	Q>*		No	ExAC gnomAD
rs772397202	1180	A>P		No	ExAC gnomAD
rs772397202	1180	A>S		No	ExAC gnomAD
rs1233179704	1181	P>R		No	gnomAD
rs1311022826	1182	S>A		No	gnomAD
rs2040762782	1185	S>C		No	TOPMed gnomAD
rs1448286043	1186	V>G		No	gnomAD
rs754920273	1186	V>L		No	ExAC TOPMed gnomAD
rs1836754454	1187	C>R		No	TOPMed

1 associated diseases with P29597

[MIM: 611521]: Immunodeficiency 35 (IMD35)

A primary immunodeficiency characterized by recurrent skin abscesses, pneumonia, and highly elevated serum IgE. . Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

A primary immunodeficiency characterized by recurrent skin abscesses, pneumonia, and highly elevated serum IgE. . Note=The disease is caused by variants affecting the gene represented in this entry.

17 regional properties for P29597

Type	Name	Position	InterPro Accession
domain	FERM domain	26 - 431	IPR000299
domain	Protein kinase domain	589 - 875	IPR000719-1
domain	Protein kinase domain	897 - 1176	IPR000719-2
domain	SH2 domain	452 - 539	IPR000980
domain	Serine-threonine/tyrosine-protein kinase, catalytic domain	590 - 866	IPR001245-1
domain	Serine-threonine/tyrosine-protein kinase, catalytic domain	898 - 1167	IPR001245-2
active_site	Tyrosine-protein kinase, active site	1019 - 1031	IPR008266
domain	Tyrosine-protein kinase, non-receptor, TYK2, N-terminal	169 - 182	IPR016045-1
domain	Tyrosine-protein kinase, non-receptor, TYK2, N-terminal	266 - 276	IPR016045-2
domain	Tyrosine-protein kinase, non-receptor, TYK2, N-terminal	516 - 526	IPR016045-3
binding_site	Protein kinase, ATP binding site	903 - 930	IPR017441
domain	Band 4.1 domain	22 - 275	IPR019749
domain	Tyrosine-protein kinase, catalytic domain	589 - 866	IPR020635-1
domain	Tyrosine-protein kinase, catalytic domain	897 - 1169	IPR020635-2
domain	JAK, FERM F2 lobe domain	142 - 266	IPR041046
domain	FERM F1 lobe ubiquitin-like domain	28 - 124	IPR041155
domain	JAK1-3/TYK2, pleckstrin homology-like domain	285 - 432	IPR041381

Functions

		Description
EC Number	2.7.10.2	Protein-tyrosine kinases
Subcellular Localization
PANTHER Family	PTHR45807	TYROSINE-PROTEIN KINASE HOPSCOTCH
PANTHER Subfamily	PTHR45807:SF6	NON-RECEPTOR TYROSINE-PROTEIN KINASE TYK2
PANTHER Protein Class	non-receptor tyrosine protein kinase
PANTHER Pathway Category	Inflammation mediated by chemokine and cytokine signaling pathway JAK

10 GO annotations of cellular component

Name	Definition
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytoplasmic side of plasma membrane	The leaflet the plasma membrane that faces the cytoplasm and any proteins embedded or anchored in it or attached to its surface.
cytoskeleton	A cellular structure that forms the internal framework of eukaryotic and prokaryotic cells. The cytoskeleton includes intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
extracellular exosome	A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm.
extrinsic component of plasma membrane	The component of a plasma membrane consisting of gene products and protein complexes that are loosely bound to one of its surfaces, but not integrated into the hydrophobic region.
interleukin-12 receptor complex	A protein complex that binds interleukin-12 and that consists of, at a minimum, a dimeric interleukin and its two receptor subunits as well as optional additional kinase subunits.
interleukin-23 receptor complex	A protein complex that binds interleukin-23 and that consists of, at a minimum, a dimeric interleukin and its two receptor subunits as well as optional additional kinase subunits.
nucleus	A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

5 GO annotations of molecular function

Name	Definition
ATP binding	Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
growth hormone receptor binding	Binding to a growth hormone receptor.
non-membrane spanning protein tyrosine kinase activity	Catalysis of the reaction
protein tyrosine kinase activity	Catalysis of the reaction
type 1 angiotensin receptor binding	Binding to a type 1 angiotensin receptor.

20 GO annotations of biological process

Name	Definition
cell differentiation	The cellular developmental process in which a relatively unspecialized cell, e.g. embryonic or regenerative cell, acquires specialized structural and/or functional features that characterize a specific cell. Differentiation includes the processes involved in commitment of a cell to a specific fate and its subsequent development to the mature state.
cellular response to virus	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 stimulus from a virus.
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.
growth hormone receptor signaling pathway via JAK-STAT	The process in which STAT proteins (Signal Transducers and Activators of Transcription) are activated by members of the JAK (janus activated kinase) family of tyrosine kinases, following the binding of physiological ligands to the growth hormone receptor. Once activated, STATs dimerize and translocate to the nucleus and modulate the expression of target genes.
immune response	Any immune system process that functions in the calibrated response of an organism to a potential internal or invasive threat.
interleukin-12-mediated signaling pathway	The series of molecular signals initiated by interleukin-12 binding to its receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription.
intracellular signal transduction	The process in which a signal is passed on to downstream components within the cell, which become activated themselves to further propagate the signal and finally trigger a change in the function or state of the cell.
positive regulation of interleukin-17 production	Any process that activates or increases the frequency, rate, or extent of production of any member of the interleukin-17 family of cytokines.
positive regulation of natural killer cell proliferation	Any process that activates or increases the frequency, rate or extent of natural killer cell proliferation.
positive regulation of NK T cell proliferation	Any process that activates or increases the frequency, rate or extent of natural killer T cell proliferation.
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 receptor signaling pathway via JAK-STAT	Any process that activates or increases the frequency, rate or extent of the JAK-STAT signaling pathway activity.
positive regulation of T cell proliferation	Any process that activates or increases the rate or extent of T cell proliferation.
positive regulation of T-helper 17 type immune response	Any process that activates or increases the frequency, rate or extent of T-helper 17 type immune response.
positive regulation of type II interferon production	Any process that activates or increases the frequency, rate, or extent of interferon-gamma production. Interferon-gamma is also known as type II interferon.
protein phosphorylation	The process of introducing a phosphate group on to a protein.
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.
type I interferon-mediated 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.
type II interferon-mediated signaling pathway	The series of molecular signals initiated by interferon-gamma binding to its receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription. Interferon gamma is the only member of the type II interferon found so far.
type III interferon-mediated signaling pathway	The series of molecular signals initiated by type III 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. Interferon lambda is the only member of the type III interferon found so far.

76 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
A0JNB0	FYN	Tyrosine-protein kinase Fyn	Bos taurus (Bovine)	SS
Q0VBZ0	CSK	Tyrosine-protein kinase CSK	Bos taurus (Bovine)	SS
Q3ZC95	BTK	Tyrosine-protein kinase	Bos taurus (Bovine)	EV SS
P42683	LCK	Proto-oncogene tyrosine-protein kinase LCK	Gallus gallus (Chicken)	SS
P41239	CSK	Tyrosine-protein kinase CSK	Gallus gallus (Chicken)	SS
P00523	SRC	Proto-oncogene tyrosine-protein kinase Src	Gallus gallus (Chicken)	EV
Q02977	YRK	Proto-oncogene tyrosine-protein kinase Yrk	Gallus gallus (Chicken)	SS
Q8JH64	BTK	Tyrosine-protein kinase BTK	Gallus gallus (Chicken)	SS
P09324	YES1	Tyrosine-protein kinase Yes	Gallus gallus (Chicken)	SS
Q05876	FYN	Tyrosine-protein kinase Fyn	Gallus gallus (Chicken)	SS
Q75R65	JAK2	Tyrosine-protein kinase JAK2	Gallus gallus (Chicken)	SS
P08630	Btk	Tyrosine-protein kinase Btk	Drosophila melanogaster (Fruit fly)	SS
Q9V9J3	Src42A	Tyrosine-protein kinase Src42A	Drosophila melanogaster (Fruit fly)	SS
P00528	Src64B	Tyrosine-protein kinase Src64B	Drosophila melanogaster (Fruit fly)	SS
Q24592	hop	Tyrosine-protein kinase hopscotch	Drosophila melanogaster (Fruit fly)	PR
P41240	CSK	Tyrosine-protein kinase CSK	Homo sapiens (Human)	SS
P51451	BLK	Tyrosine-protein kinase Blk	Homo sapiens (Human)	SS
P06239	LCK	Tyrosine-protein kinase Lck	Homo sapiens (Human)	EV
P06241	FYN	Tyrosine-protein kinase Fyn	Homo sapiens (Human)	SS
P51813	BMX	Cytoplasmic tyrosine-protein kinase BMX	Homo sapiens (Human)	SS
P12931	SRC	Proto-oncogene tyrosine-protein kinase Src	Homo sapiens (Human)	EV
P09769	FGR	Tyrosine-protein kinase Fgr	Homo sapiens (Human)	SS
P42680	TEC	Tyrosine-protein kinase Tec	Homo sapiens (Human)	SS
P42679	MATK	Megakaryocyte-associated tyrosine-protein kinase	Homo sapiens (Human)	SS
Q08881	ITK	Tyrosine-protein kinase ITK/TSK	Homo sapiens (Human)	EV
P07948	LYN	Tyrosine-protein kinase Lyn	Homo sapiens (Human)	SS
Q13882	PTK6	Protein-tyrosine kinase 6	Homo sapiens (Human)	EV
P08631	HCK	Tyrosine-protein kinase HCK	Homo sapiens (Human)	EV
P07947	YES1	Tyrosine-protein kinase Yes	Homo sapiens (Human)	SS
P42685	FRK	Tyrosine-protein kinase FRK	Homo sapiens (Human)	EV
Q06187	BTK	Tyrosine-protein kinase BTK	Homo sapiens (Human)	EV
O60674	JAK2	Tyrosine-protein kinase JAK2	Homo sapiens (Human)	EV
P23458	JAK1	Tyrosine-protein kinase JAK1	Homo sapiens (Human)	SS
P52333	JAK3	Tyrosine-protein kinase JAK3	Homo sapiens (Human)	SS
P08103	Hck	Tyrosine-protein kinase HCK	Mus musculus (Mouse)	SS
P16277	Blk	Tyrosine-protein kinase Blk	Mus musculus (Mouse)	SS
Q62270	Srms	Tyrosine-protein kinase Srms	Mus musculus (Mouse)	SS
Q64434	Ptk6	Protein-tyrosine kinase 6	Mus musculus (Mouse)	SS
P05480	Src	Proto-oncogene tyrosine-protein kinase Src	Mus musculus (Mouse)	EV
P14234	Fgr	Tyrosine-protein kinase Fgr	Mus musculus (Mouse)	SS
P35991	Btk	Tyrosine-protein kinase BTK	Mus musculus (Mouse)	EV
P41241	Csk	Tyrosine-protein kinase CSK	Mus musculus (Mouse)	EV
P25911	Lyn	Tyrosine-protein kinase Lyn	Mus musculus (Mouse)	EV
Q62137	Jak3	Tyrosine-protein kinase JAK3	Mus musculus (Mouse)	SS
P06240	Lck	Proto-oncogene tyrosine-protein kinase LCK	Mus musculus (Mouse)	SS
P24604	Tec	Tyrosine-protein kinase Tec	Mus musculus (Mouse)	SS
Q04736	Yes1	Tyrosine-protein kinase Yes	Mus musculus (Mouse)	SS
P39688	Fyn	Tyrosine-protein kinase Fyn	Mus musculus (Mouse)	SS
P52332	Jak1	Tyrosine-protein kinase JAK1	Mus musculus (Mouse)	SS
Q03526	Itk	Tyrosine-protein kinase ITK/TSK	Mus musculus (Mouse)	SS
P41242	Matk	Megakaryocyte-associated tyrosine-protein kinase	Mus musculus (Mouse)	SS
Q922K9	Frk	Tyrosine-protein kinase FRK	Mus musculus (Mouse)	SS
Q62120	Jak2	Tyrosine-protein kinase JAK2	Mus musculus (Mouse)	EV
Q9R117	Tyk2	Non-receptor tyrosine-protein kinase TYK2	Mus musculus (Mouse)	SS
A1Y2K1	FYN	Tyrosine-protein kinase Fyn	Sus scrofa (Pig)	SS
O19064	JAK2	Tyrosine-protein kinase JAK2	Sus scrofa (Pig)	SS
Q62662	Frk	Tyrosine-protein kinase FRK	Rattus norvegicus (Rat)	SS
Q62844	Fyn	Tyrosine-protein kinase Fyn	Rattus norvegicus (Rat)	SS
Q07014	Lyn	Tyrosine-protein kinase Lyn	Rattus norvegicus (Rat)	SS
P50545	Hck	Tyrosine-protein kinase HCK	Rattus norvegicus (Rat)	SS
Q9WUD9	Src	Proto-oncogene tyrosine-protein kinase Src	Rattus norvegicus (Rat)	SS
Q01621	Lck	Proto-oncogene tyrosine-protein kinase LCK	Rattus norvegicus (Rat)	SS
Q6P6U0	Fgr	Tyrosine-protein kinase Fgr	Rattus norvegicus (Rat)	SS
Q62689	Jak2	Tyrosine-protein kinase JAK2	Rattus norvegicus (Rat)	SS
Q63272	Jak3	Tyrosine-protein kinase JAK3	Rattus norvegicus (Rat)	SS
P32577	Csk	Tyrosine-protein kinase CSK	Rattus norvegicus (Rat)	SS
P41243	Matk	Megakaryocyte-associated tyrosine-protein kinase	Rattus norvegicus (Rat)	SS
F1LM93	Yes1	Tyrosine-protein kinase Yes	Rattus norvegicus (Rat)	SS
O45539	src-2	Tyrosine protein-kinase src-2	Caenorhabditis elegans	SS
G5ECJ6	csk-1	Tyrosine-protein kinase csk-1	Caenorhabditis elegans	SS
G5EE56	src-1	Tyrosine protein-kinase src-1	Caenorhabditis elegans	SS
A1A5H8	yes1	Tyrosine-protein kinase yes	Danio rerio (Zebrafish) (Brachydanio rerio)	SS
F1RDG9	fynb	Tyrosine-protein kinase fynb	Danio rerio (Zebrafish) (Brachydanio rerio)	SS
O12990	jak1	Tyrosine-protein kinase JAK1	Danio rerio (Zebrafish) (Brachydanio rerio)	PR
Q1JPZ3	src	Proto-oncogene tyrosine-protein kinase Src	Danio rerio (Zebrafish) (Brachydanio rerio)	SS
Q6EWH2	fyna	Tyrosine-protein kinase fyna	Danio rerio (Zebrafish) (Brachydanio rerio)	SS

10	20	30	40	50	60
MPLRHWGMAR	GSKPVGDGAQ	PMAAMGGLKV	LLHWAGPGGG	EPWVTFSESS	LTAEEVCIHI
70	80	90	100	110	120
AHKVGITPPC	FNLFALFDAQ	AQVWLPPNHI	LEIPRDASLM	LYFRIRFYFR	NWHGMNPREP
130	140	150	160	170	180
AVYRCGPPGT	EASSDQTAQG	MQLLDPASFE	YLFEQGKHEF	VNDVASLWEL	STEEEIHHFK
190	200	210	220	230	240
NESLGMAFLH	LCHLALRHGI	PLEEVAKKTS	FKDCIPRSFR	RHIRQHSALT	RLRLRNVFRR
250	260	270	280	290	300
FLRDFQPGRL	SQQMVMVKYL	ATLERLAPRF	GTERVPVCHL	RLLAQAEGEP	CYIRDSGVAP
310	320	330	340	350	360
TDPGPESAAG	PPTHEVLVTG	TGGIQWWPVE	EEVNKEEGSS	GSSGRNPQAS	LFGKKAKAHK
370	380	390	400	410	420
AVGQPADRPR	EPLWAYFCDF	RDITHVVLKE	HCVSIHRQDN	KCLELSLPSR	AAALSFVSLV
430	440	450	460	470	480
DGYFRLTADS	SHYLCHEVAP	PRLVMSIRDG	IHGPLLEPFV	QAKLRPEDGL	YLIHWSTSHP
490	500	510	520	530	540
YRLILTVAQR	SQAPDGMQSL	RLRKFPIEQQ	DGAFVLEGWG	RSFPSVRELG	AALQGCLLRA
550	560	570	580	590	600
GDDCFSLRRC	CLPQPGETSN	LIIMRGARAS	PRTLNLSQLS	FHRVDQKEIT	QLSHLGQGTR
610	620	630	640	650	660
TNVYEGRLRV	EGSGDPEEGK	MDDEDPLVPG	RDRGQELRVV	LKVLDPSHHD	IALAFYETAS
670	680	690	700	710	720
LMSQVSHTHL	AFVHGVCVRG	PENIMVTEYV	EHGPLDVWLR	RERGHVPMAW	KMVVAQQLAS
730	740	750	760	770	780
ALSYLENKNL	VHGNVCGRNI	LLARLGLAEG	TSPFIKLSDP	GVGLGALSRE	ERVERIPWLA
790	800	810	820	830	840
PECLPGGANS	LSTAMDKWGF	GATLLEICFD	GEAPLQSRSP	SEKEHFYQRQ	HRLPEPSCPQ
850	860	870	880	890	900
LATLTSQCLT	YEPTQRPSFR	TILRDLTRLQ	PHNLADVLTV	NPDSPASDPT	VFHKRYLKKI
910	920	930	940	950	960
RDLGEGHFGK	VSLYCYDPTN	DGTGEMVAVK	ALKADCGPQH	RSGWKQEIDI	LRTLYHEHII
970	980	990	1000	1010	1020
KYKGCCEDQG	EKSLQLVMEY	VPLGSLRDYL	PRHSIGLAQL	LLFAQQICEG	MAYLHAQHYI
1030	1040	1050	1060	1070	1080
HRDLAARNVL	LDNDRLVKIG	DFGLAKAVPE	GHEYYRVRED	GDSPVFWYAP	ECLKEYKFYY
1090	1100	1110	1120	1130	1140
ASDVWSFGVT	LYELLTHCDS	SQSPPTKFLE	LIGIAQGQMT	VLRLTELLER	GERLPRPDKC
1150	1160	1170	1180
PCEVYHLMKN	CWETEASFRP	TFENLIPILK	TVHEKYQGQA	PSVFSVC