AiPD: Autoinhibited Protein Database

P21802

Gene name	FGFR2 (BEK, KGFR, KSAM)
Protein name	Fibroblast growth factor receptor 2
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:2263
EC number	2.7.10.1: Protein-tyrosine kinases
Protein Class

Descriptions

Fibroblast growth factor receptor 2 (FGFR2) is one of the members of FGFR family belonging to the receptor tyrosine kinases (RTK) in cell proliferation, differentiation, migration, and maintenance of cellular homeostasis. Unlike to other RTKs and FGFR1, FGFR2 is less autoinhibited. In the structural analysis of FGFR2, the actiation loop is flipped outward and adopts a conformation more favorable αC downward movement as well as more conducive to substrate binding. Despite its less autoinhibited conformation, unphosphorylated FGFR2 does not fully adopt an active conformation and The phosphorylation of activation loop leads to the activation of FGFR2.

Autoinhibitory domains (AIDs)

Accessory elements

643-668 (Activation loop from InterPro)

Target domain	481-770 (Protein kinase domain)
Relief mechanism	PTM
Assay	Structural analysis, Mutagenesis experiment

References

Lew ED et al. (2007) "Structural basis for reduced FGFR2 activity in LADD syndrome: Implications for FGFR autoinhibition and activation", Proceedings of the National Academy of Sciences of the United States of America, 104, 19802-7

Katoh M (2008) "Cancer genomics and genetics of FGFR2 (Review)", International journal of oncology, 33, 233-7

Autoinhibited structure

Activated structure

53 structures for P21802

Entry ID	Method	Resolution	Chain	Position	Source
1DJS	X-ray	240 A	A	153-362	PDB
1E0O	X-ray	280 A	B/D	148-366	PDB
1EV2	X-ray	220 A	E/F/G/H	147-366	PDB
1GJO	X-ray	240 A	A	456-768	PDB
1II4	X-ray	270 A	E/F/G/H	147-366	PDB
1IIL	X-ray	230 A	E/F/G/H	147-366	PDB
1NUN	X-ray	290 A	B	140-368	PDB
1OEC	X-ray	240 A	A	456-768	PDB
1WVZ	NMR	-	A	147-249	PDB
2FDB	X-ray	228 A	P/R	149-368	PDB
2PSQ	X-ray	240 A	A/B	413-768	PDB
2PVF	X-ray	180 A			PDB
2PVY	X-ray	220 A	A/B/C/D	458-768	PDB
2PWL	X-ray	240 A	A/B	458-768	PDB
2PY3	X-ray	230 A	A/B	458-768	PDB
2PZ5	X-ray	240 A	A/B	458-768	PDB
2PZP	X-ray	240 A	A/B	458-768	PDB
2PZR	X-ray	300 A	A/B	458-768	PDB
2Q0B	X-ray	290 A	A/B	458-768	PDB
3B2T	X-ray	180 A	A/B	458-766	PDB
3CAF	X-ray	196 A	A	150-249	PDB
3CLY	X-ray	200 A	A	458-778	PDB
3CU1	X-ray	260 A	A/C	150-249	PDB
3DAR	X-ray	220 A	A/B	146-249	PDB
3EUU	X-ray	234 A	A/B	150-249	PDB
3OJ2	X-ray	220 A	C/D	140-313	PDB
3OJM	X-ray	210 A	B	140-313	PDB
3RI1	X-ray	210 A	A/B	458-768	PDB
4J23	X-ray	388 A	A	147-366	PDB
4J95	X-ray	238 A	A/B/C/D	458-768	PDB
4J96	X-ray	230 A	A/B	458-768	PDB
4J97	X-ray	255 A	A/B/C/D	458-768	PDB
4J98	X-ray	231 A	A/B	458-768	PDB
4J99	X-ray	185 A	A/B/C/D	458-768	PDB
4WV1	X-ray	236 A	C/F	153-251	PDB
5EG3	X-ray	261 A	A	458-778	PDB
5UGL	X-ray	186 A	A/B	458-768	PDB
5UGX	X-ray	235 A	A/B	458-768	PDB
5UHN	X-ray	291 A	A/B	458-768	PDB
5UI0	X-ray	205 A	A/B	458-768	PDB
6AGX	X-ray	295 A	A/B/C/D	467-764	PDB
6LVK	X-ray	229 A	A/B	459-768	PDB
6LVL	X-ray	298 A	A/B	459-768	PDB
6V6Q	X-ray	246 A	A/B/C/D	413-821	PDB
7KIA	X-ray	222 A	A/B	461-768	PDB
7KIE	X-ray	247 A	A/B	461-768	PDB
7OZY	X-ray	228 A	AAA/BBB	465-763	PDB
8E1X	X-ray	268 A	A/B	459-768	PDB
8H75	X-ray	375 A	A/B/C/D	459-768	PDB
8STG	X-ray	379 A	A/B	458-769	PDB
8SWE	X-ray	224 A	A/B	458-768	PDB
8U1F	X-ray	333 A	A/B	458-768	PDB
AF-P21802-F1	Predicted				AlphaFoldDB

581 variants for P21802

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV000945967 RCV001514574 CA5721245 rs377570596	22	R>W	FGFR2 related craniosynostosis [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001106840 rs1863017903 RCV001107504 RCV001106842 RCV001106841 RCV001106843	31	T>S	Saethre-Chotzen syndrome Beare-Stevenson cutis gyrata syndrome Isolated coronal synostosis Craniosynostosis syndrome Crouzon syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV000415491 CA5721212 RCV001861461 rs748117555	46	Q>H	FGFR2 related craniosynostosis Craniosynostosis, nonspecific [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA378325580 rs1398842143 RCV001857021 RCV000678347	50	Y>F	FGFR2 related craniosynostosis [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
rs1434545235 RCV000531359 CA378324800 RCV000522502 VAR_004112 RCV000762805	105	Y>C	CS Acrocephalosyndactyly type I FGFR2 related craniosynostosis [UniProt, ClinVar]	Yes	ClinGen ClinVar UniProt dbSNP gnomAD
RCV001865368 rs1057523040 RCV000435241 CA16605613	126	D>N	FGFR2 related craniosynostosis [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs121918498 RCV000014201 VAR_004114 CA280180	252	S>F	Acrocephalosyndactyly type I APRS; requires 2 nucleotide substitutions [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
VAR_004116 rs281865420 CA122989 RCV000014202	252	S>FS	Pfeiffer syndrome variant PS [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV001313539 rs79184941 CA5721006 RCV000664049 VAR_004113	252	S>L	FGFR2 related craniosynostosis Crouzon syndrome [ClinVar]	Yes	ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD
RCV000433250 RCV000431027 COSM915506 COSM915507 CA122985 RCV000014192 RCV000433942 RCV000438603 RCV000762804 RCV000422979 RCV000552015 rs79184941 RCV000014191 RCV000263144 COSM36903 RCV000440715 VAR_004115 COSM1152153	252	S>W	Malignant neoplasm of body of uterus Acrocephalosyndactyly type I Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation Uterine carcinosarcoma Acrocephalosyndactyly APRS and PS; common mutation FGFR2 related craniosynostosis Endometrial neoplasm endometrium Gastric adenocarcinoma Endometrial carcinoma [ClinVar, UniProt, Cosmic]	Yes	ClinGen cosmic curated ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD
RCV000049281 CA280311 rs387907372	253	P>F	Acrocephalosyndactyly type I [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
COSM915504 COSM915505 COSM49170 VAR_004117 rs77543610 COSM1152152 CA280174	253	P>R	APRS; common mutation upper_aerodigestive_tract ovary endometrium [UniProt, Cosmic]	Yes	ClinGen cosmic curated UniProt Ensembl dbSNP
RCV001089549 rs1850314485	255	R>Q	Ectrodactyly [ClinVar]	Yes	ClinVar dbSNP
RCV001856417 CA5721002 rs747171741 RCV001105525 RCV001105529 RCV001105528 RCV001105526 RCV001105527	258	L>F	Saethre-Chotzen syndrome FGFR2 related craniosynostosis Beare-Stevenson cutis gyrata syndrome Isolated coronal synostosis Craniosynostosis syndrome Crouzon syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA5720998 rs779326224 VAR_017261	263	P>L	CS [UniProt]	Yes	ClinGen UniProt ExAC dbSNP gnomAD
COSM41282 RCV000408850 CA210548 VAR_004118 rs121918505 RCV000690962 RCV000014214 RCV000014213 RCV000435703	267	S>P	CS Pfeiffer syndrome FGFR2 related craniosynostosis Neoplasm of stomach stomach Crouzon syndrome [UniProt, ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP
rs879253718 RCV000014207	269	V>missing	Saethre-Chotzen syndrome [ClinVar]	Yes	ClinVar dbSNP
rs1564919048 CA378330949 RCV000695392	271	G>V	FGFR2 related craniosynostosis [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs121918503 RCV000014211 VAR_017262	273	D>missing	Pfeiffer syndrome PS; type 2 [ClinVar, UniProt]	Yes	ClinVar UniProt dbSNP
rs1258584689 RCV000544775 CA378330928	275	E>Q	FGFR2 related craniosynostosis [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs1850299732 RCV001263201	275	E>missing	Crouzon syndrome [ClinVar]	Yes	ClinVar dbSNP
CA16043919 RCV000415486 VAR_004120 RCV000655413 rs1057519036	276	F>V	CS FGFR2 related craniosynostosis Crouzon syndrome [UniProt, ClinVar]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV000415498 VAR_004121 RCV000255197 rs776587763 CA5720987 RCV000557313	278	C>F	Pfeiffer syndrome FGFR2 related craniosynostosis CS, JWS and PS; forms disulfide-linked dimers with constitutive kinase activity, is retained in an intracellular compartment and not detected at the cell surface [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC dbSNP gnomAD
RCV000701381 rs1057519037	278	C>F	FGFR2 related craniosynostosis [ClinVar]	Yes	ClinVar dbSNP
rs1057519037 RCV000415475	278	C>L	Pfeiffer syndrome [ClinVar]	Yes	ClinVar dbSNP
CA378330887 RCV000655420 rs1554930790	278	C>W	FGFR2 related craniosynostosis [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
VAR_017263 CA378330894 rs776587763 RCV001091416	278	C>Y	CS [UniProt]	Yes	ClinGen ClinVar UniProt ExAC dbSNP gnomAD
RCV001547058 rs1057519038 CA16043917 RCV000415488 VAR_017264	281	Y>C	CS Crouzon syndrome [UniProt, ClinVar]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV000022731 rs1554930637	287	H>missing	Beare-Stevenson cutis gyrata syndrome [ClinVar]	Yes	ClinVar dbSNP
rs886037837 RCV000240846	288	I>M	Pfeiffer syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV000415509 CA280178 rs121918497 RCV000014196 RCV000014197 VAR_004123	289	Q>P	Pfeiffer syndrome Jackson-weiss syndrome (jws) Jackson-Weiss syndrome CS and JWS Crouzon syndrome [ClinVar, Ensembl, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
rs121918499 COSM1346283 RCV000419759 COSM1346285 COSM41286 COSM683046 COSM1346284 COSM683045 COSM1346286 VAR_004124 CA280182 RCV000014203	290	W>C	lung Pfeiffer syndrome PS; severe; also in a lung squamous cell carcinoma sample; somatic mutation Squamous cell lung carcinoma large_intestine [Cosmic, ClinVar, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP
rs121918501 RCV000014206 VAR_017266 CA280187	290	W>G	CS Crouzon syndrome [UniProt, ClinVar]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
COSM1346287 COSM1346289 rs121918501 COSM1346288 COSM1346290 CA280185 RCV000537718 RCV000014205 VAR_004125	290	W>R	CS FGFR2 related craniosynostosis large_intestine Crouzon syndrome [UniProt, ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP
CA16043916 RCV000415506 rs1057519039	290	W>S	Crouzon syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA280183 VAR_004126 RCV000014204 rs121918500	292	K>E	CS Crouzon syndrome [UniProt, ClinVar]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
CA378330459 VAR_004127 RCV000545665 rs1554930684	301	Y>C	CS FGFR2 related craniosynostosis [UniProt, ClinVar]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
rs370877537 RCV000686077 CA5720973	304	D>N	FGFR2 related craniosynostosis [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA16043915 rs1057519040 RCV000415502	308	Y>C	Crouzon syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000438031 COSM36901 CA16602763 rs121913475	310	K>R	Endometrial neoplasm endometrium [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
rs1358919643 CA378328613 VAR_004128 RCV000534665	314	A>S	craniosynostosis FGFR2 related craniosynostosis [UniProt, ClinVar]	Yes	ClinGen ClinVar UniProt dbSNP gnomAD
CA122992 RCV000856813 RCV001280733 RCV000014212 VAR_017267 RCV001851847 rs121918504	315	A>S	FGFR2 related craniosynostosis a non-syndromic craniosynostosis patient with abnormal intrauterine history; confers predisposition to craniosynostosis Craniosynostosis, nonsyndromic unicoronal Crouzon syndrome [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
CA280195 RCV000014227 VAR_004129 rs121918510	321	D>A	Pfeiffer syndrome PS [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
CA378328441 rs1443966407 RCV000655424	324	I>V	FGFR2 related craniosynostosis [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
CA280172 RCV000014189 VAR_004130 rs121918493	328	Y>C	CS Crouzon syndrome [UniProt, ClinVar]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
rs199757302 RCV000763646 CA5720881 RCV000700533	330	R>Q	Acrocephalosyndactyly type I FGFR2 related craniosynostosis [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV000415483 CA16043913 rs1057519042	336	D>G	Crouzon syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000022732 rs387906676 CA280240 VAR_017268	337	A>P	CS Crouzon syndrome [UniProt, ClinVar]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
CA128691 rs387906676 RCV000022733	337	A>T	Variant of unknown significance [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000415513 VAR_004133 CA16043911 RCV000762802 rs1057519044	338	G>E	CS Acrocephalosyndactyly type I Crouzon syndrome [UniProt, ClinVar]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV000558696 CA658658022 rs1554928905	338	G>K	FGFR2 related craniosynostosis [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1057519043 RCV000415494 CA16043912	338	G>R	Crouzon syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA378328094 VAR_015011 RCV000695897 rs1057519043	338	G>R	CS FGFR2 related craniosynostosis [UniProt, ClinVar]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
rs1057519043 CA378328091 RCV000655417	338	G>W	FGFR2 related craniosynostosis [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA378328024 RCV000523700 VAR_017269 rs1554928884	340	Y>C	PS [UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
VAR_004134 rs121918489 RCV000014175 CA280169	340	Y>H	CS Crouzon syndrome [UniProt, ClinVar]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV000014194 rs121918495 VAR_004135 CA280176	341	T>P	Pfeiffer syndrome PS and CS [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
CA16043909 VAR_004136 RCV000415490 rs121918487	342	C>F	CS Jackson-Weiss syndrome [UniProt, ClinVar]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV001591054 rs121918488 RCV001270790 VAR_017270 CA16043910 RCV001861462 RCV000415501	342	C>G	FGFR2-related syndromic and non-syndromic craniosynostoses Pfeiffer syndrome Jackson-weiss syndrome (jws) PS FGFR2 related craniosynostosis [ClinVar, Ensembl, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV000014177 RCV000014180 RCV000014179 rs121918488 RCV000014178 RCV000534888 VAR_004137 CA256745	342	C>R	Pfeiffer syndrome Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis Jackson-weiss syndrome (jws) Jackson-Weiss syndrome FGFR2 related craniosynostosis CS, JWS, PS and ABS2 Crouzon syndrome [ClinVar, Ensembl, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV000415499 rs121918487 RCV000560038 CA10575447	342	C>S	Jackson-Weiss syndrome FGFR2 related craniosynostosis [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA256746 RCV000415484 VAR_004138 rs121918488 RCV000490034 RCV000655416 RCV000014181 RCV000014183 RCV000014182	342	C>S	Pfeiffer syndrome Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis Jackson-weiss syndrome (jws) Jackson-Weiss syndrome FGFR2 related craniosynostosis CS, JWS, PS and ABS2 Crouzon syndrome [ClinVar, Ensembl, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV000535651 CA280177 rs121918496 RCV000014195 VAR_017271	342	C>W	CS FGFR2 related craniosynostosis Crouzon syndrome [UniProt, ClinVar]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
CA280168 RCV000762801 RCV000014173 VAR_004139 rs121918487 RCV000014174 RCV000547490	342	C>Y	Pfeiffer syndrome Acrocephalosyndactyly type I FGFR2 related craniosynostosis CS and PS Crouzon syndrome [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV000014188 rs121918492 RCV000014187 VAR_004140 RCV001851846 CA280171	344	A>G	Jackson-weiss syndrome (jws) Jackson-Weiss syndrome FGFR2 related craniosynostosis CS and JWS Crouzon syndrome [Ensembl, ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
rs1554928838 CA378327898 RCV000548281	345	G>D	FGFR2 related craniosynostosis [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
VAR_004142 RCV000655421 RCV000014190 CA280173 rs121918494 RCV000626619 RCV000726654	347	S>C	CS FGFR2 related craniosynostosis Hypertelorism Crouzon syndrome [UniProt, ClinVar]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
CA122991 RCV000256107 RCV000014209 RCV000528973 RCV000415503 rs121918502 VAR_004143 RCV000014208	351	S>C	Pfeiffer syndrome Pfeiffer syndrome type 3 Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis FGFR2 related craniosynostosis CS, PS and ABS2 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
rs121918490 CA280170 RCV000014176 RCV000623131 VAR_004144 RCV000655419	354	S>C	CS FGFR2 related craniosynostosis Inborn genetic diseases Crouzon syndrome [UniProt, ClinVar]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV000655415 rs1554928786	362	A>VNT	FGFR2 related craniosynostosis [ClinVar]	Yes	ClinVar dbSNP
VAR_017274 CA256747 RCV000424237 rs121913477 RCV000014200 COSM36905	372	S>C	Endometrial neoplasm Beare-Stevenson cutis gyrata syndrome endometrium BSTVS Beare-stevenson cutis gyrata syndrome (bstvs) [ClinVar, Cosmic, UniProt, Ensembl]	Yes	ClinGen cosmic curated ClinVar UniProt TOPMed dbSNP
CA16603134 rs1057520028 RCV000423432	374	D>G	Endometrial neoplasm [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000224124 CA122987 RCV000549100 COSM1152151 COSM915499 RCV000014198 COSM915498 RCV000014199 RCV000762799 rs121913478 VAR_017275 RCV000441051 COSM36904	375	Y>C	PS and BSTVS Acrocephalosyndactyly type I biliary_tract NS liver Endometrial neoplasm FGFR2 related craniosynostosis Beare-Stevenson cutis gyrata syndrome endometrium Beare-stevenson cutis gyrata syndrome (bstvs) Endometrial carcinoma [UniProt, ClinVar, Cosmic, Ensembl]	Yes	ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP
VAR_067977 rs387906678 CA128695 RCV000022735 RCV000725446 RCV000190765	381	Y>D	BBDS FGFR2-related bent bone dysplasia Bent bone dysplasia syndrome (bbds) Inborn genetic diseases [UniProt, ClinVar, Ensembl]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
rs387906678 RCV000441347 RCV000430563 RCV000427294 RCV000424046 CA16602762	381	Y>H	Malignant neoplasm of body of uterus Carcinoma of esophagus Endometrial neoplasm Gastric adenocarcinoma Bent bone dysplasia syndrome (bbds) [ClinVar, Ensembl]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000429923 RCV000419879 COSM915496 COSM36906 RCV000585739 rs121913474 COSM1152150 RCV000440577 COSM915497 CA16602866	382	C>R	Malignant neoplasm of body of uterus Carcinoma of esophagus biliary_tract oesophagus large_intestine endometrium Gastric adenocarcinoma Adenoid cystic carcinoma [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
COSM915494 RCV000421261 CA16602867 RCV000434751 COSM915493 COSM1346257 RCV000438442 rs1057519900 COSM915495	382	C>Y	Malignant neoplasm of body of uterus Carcinoma of esophagus large_intestine endometrium Gastric adenocarcinoma [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
RCV000525216 rs1554927408 VAR_004147 CA378327226 RCV000762798	384	G>R	CS Acrocephalosyndactyly type I FGFR2 related craniosynostosis [UniProt, ClinVar]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV000022734 RCV000493423 CA128693 VAR_067978 rs387906677 COSM36907	391	M>R	BBDS; the mutation selectively reduces plasma-membrane levels of the protein and markedly diminishes the receptor's responsiveness to extracellular FGF FGFR2-related bent bone dysplasia endometrium Bent bone dysplasia syndrome (bbds) [UniProt, ClinVar, Cosmic, Ensembl]	Yes	ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP
RCV001108665 RCV001108664 CA5720815 rs772986332 RCV001103506 RCV001108663 RCV001108662	405	K>E	Saethre-Chotzen syndrome Beare-Stevenson cutis gyrata syndrome Isolated coronal synostosis Craniosynostosis syndrome Crouzon syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001288177 rs7078073 CA214297296 RCV001871707	443	P>A	FGFR2 related craniosynostosis [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
CA378323223 RCV000659648 rs1554917471	493	G>W	Levy-Hollister syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1847510893 RCV001250712	515	A>V	Levy-Hollister syndrome [ClinVar]	Yes	ClinVar dbSNP
rs55689343 RCV001108583 RCV001108581 RCV001108585 RCV001856447 RCV001108582 CA5720695 RCV001108584	521	D>G	Saethre-Chotzen syndrome FGFR2 related craniosynostosis Isolated coronal synostosis Beare-Stevenson cutis gyrata syndrome Craniosynostosis syndrome Crouzon syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1057520044 RCV001865318 CA16603155 RCV000424161	524	T>A	FGFR2 related craniosynostosis Craniosynostosis syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs121918507 VAR_023788 RCV000014221 RCV000014220 CA122996	526	K>E	FSPC; constitutive kinase activity Familial scaphocephaly syndrome, McGillivray type Crouzon syndrome [UniProt, ClinVar]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
rs1057519800 RCV000435530 CA16602620	535	M>I	Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000417871 CA16602621 rs1057519800	535	M>I	Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA16602619 rs1057519800 RCV000424365	535	M>I	Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000442661 rs1057519799 COSM915488 CA16602618 COSM915489 COSM1152149	537	M>I	Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation endometrium [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
RCV000436200 rs1057519799 COSM915488 CA16602617 COSM915489 COSM1152149	537	M>I	Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation endometrium [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
RCV000425939 rs1057519799 COSM915488 COSM915489 COSM1152149 CA16602616	537	M>I	Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation endometrium [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
CA16602615 COSM36913 rs1057519798 RCV000442792	547	I>V	Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation endometrium [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
rs1057519901 CA16602868 RCV000438545 RCV000420899 RCV000441378 RCV000423679 RCV000431121	548	I>L	Malignant neoplasm of body of uterus Endometrial neoplasm Nasopharyngeal neoplasm Lung adenocarcinoma Breast neoplasm [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
RCV000418082 COSM250083 VAR_017276 COSM915486 CA16043908 RCV000428300 RCV000425472 RCV000432507 RCV000786040 RCV000435736 rs1057519045 RCV000415507 COSM1584817 COSM915485	549	N>H	Malignant neoplasm of body of uterus Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation CS; constitutive kinase activity endometrium Nasopharyngeal neoplasm Lung adenocarcinoma Crouzon syndrome Breast neoplasm [ClinVar, UniProt, Cosmic]	Yes	ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP
RCV000426965 COSM36902 COSM427161 CA16602614 RCV000441770 RCV000443743 COSM427158 COSM3930931 RCV000424055 COSM1152148 COSM427159 COSM427160 COSM36912 rs121913476 COSM1474414 RCV000433483	549	N>K	lung Malignant neoplasm of body of uterus Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation urinary_tract endometrium Nasopharyngeal neoplasm Lung adenocarcinoma breast Breast neoplasm [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
COSM36902 CA16602613 COSM427161 RCV000434110 COSM427158 COSM3930931 COSM1152148 COSM427159 COSM427160 COSM36912 rs121913476 COSM1474414	549	N>K	lung Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation endometrium urinary_tract breast [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
CA16043907 RCV000415476 rs1057519046	549	N>L	Craniosynostosis, nonspecific [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001775788 rs1057519797 RCV000423825 CA16602612	564	V>I	Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000434384 rs121918506 RCV001851848 RCV000014219 CA280192	565	E>A	Pfeiffer syndrome FGFR2 related craniosynostosis Craniosynostosis syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA16043906 RCV001865307 RCV000438913 VAR_017277 rs121918506 RCV000415495 RCV001549391	565	E>G	Pfeiffer syndrome Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation FGFR2 related craniosynostosis PS; constitutive kinase activity [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
CA378320219 rs1564875398 RCV000691056	585	E>Q	FGFR2 related craniosynostosis [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000396197 RCV000305351 RCV001859778 RCV000357145 RCV000341569 rs141929882 RCV000340231 CA5720652	592	R>C	Saethre-Chotzen syndrome FGFR2 related craniosynostosis Isolated coronal synostosis Beare-Stevenson cutis gyrata syndrome Craniosynostosis syndrome Crouzon syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1057519796 CA16602611 RCV000428728	617	L>M	Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA123000 rs121918509 RCV000414415 RCV000014224 VAR_029884	628	A>T	LADDS; strongly reduced kinase activity Levy-Hollister syndrome [UniProt, ClinVar]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
rs1057519854 RCV000444404 CA16602761 RCV000436783 RCV000420097 RCV000426084 RCV000432646	638	N>K	Malignant neoplasm of body of uterus Endometrial neoplasm Nasopharyngeal neoplasm Lung adenocarcinoma Breast neoplasm [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs777169135 CA16603156 RCV000442059	638	N>T	Craniosynostosis syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV000415480 VAR_017278 CA16043905 RCV000731782 rs1057519047	641	K>R	Pfeiffer syndrome PS; constitutive kinase activity [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
CA122998 COSM29836 RCV000014222 COSM1346194 RCV001291623 COSM1346193 VAR_029885 COSM1346192 rs121918508	648	A>T	LADDS large_intestine skin Levy-Hollister syndrome [UniProt, Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar UniProt TOPMed dbSNP
RCV000014223 rs879253720	649	R>S	Levy-Hollister syndrome [ClinVar]	Yes	ClinVar dbSNP
rs1057520027 RCV000439319 CA16603133	658	K>E	Endometrial neoplasm [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1057520029 RCV000433692 CA16603135	658	K>N	Endometrial neoplasm [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA16602610 COSM1152147 RCV000417597 rs1057519795 COSM215414 COSM36909 COSM915479	659	K>E	Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation central_nervous_system endometrium [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
RCV000624844 CA378313384 rs1554907364	664	R>Q	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1554907337 RCV000659649 CA378313216	674	A>V	Levy-Hollister syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001108510 RCV001108511 rs1845557012 RCV001108508 RCV001108512 RCV001108509	682	H>R	Saethre-Chotzen syndrome Isolated coronal synostosis Beare-Stevenson cutis gyrata syndrome Craniosynostosis syndrome Crouzon syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV001197590 rs1589713974	718	E>Q	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis [ClinVar]	Yes	ClinVar dbSNP
rs1458081920 RCV001198783 CA378311660	726	A>G	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
RCV000311542 RCV000284236 CA5720449 RCV000324015 RCV000376381 RCV001753763 RCV000336994 rs764959117	806	E>K	Saethre-Chotzen syndrome Beare-Stevenson cutis gyrata syndrome Isolated coronal synostosis Craniosynostosis syndrome Crouzon syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs1271629959 CA378328316	3	S>T		No	ClinGen TOPMed
rs1346210003 CA378328267	5	G>C		No	ClinGen gnomAD
rs141724446 CA5721255 COSM1346356 COSM1346355 COSM1346357 COSM1346354	6	R>C	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA5721254 rs3750819	6	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA159662 rs3750819 VAR_017258	6	R>P		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA159667 RCV000121062 RCV000756160 rs147307031	8	I>S		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA378328213 rs1287624070	8	I>V		No	ClinGen gnomAD
rs1479661228 CA378328193	9	C>G		No	ClinGen TOPMed
rs370122049 CA5721252	10	L>V		No	ClinGen ESP ExAC gnomAD
COSM465367 COSM465368 COSM1134982 rs143978938 COSM465369 CA159665	12	V>M	kidney [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA5721249 rs753987054	14	T>I		No	ClinGen ExAC gnomAD
CA378328113 rs1451094453	15	M>L		No	ClinGen gnomAD
CA214323715 rs984992964	16	A>T		No	ClinGen TOPMed
rs1417346628 CA378328068	17	T>A		No	ClinGen TOPMed gnomAD
CA5721248 rs766435280	17	T>I		No	ClinGen ExAC TOPMed gnomAD
rs1417346628 CA378328074	17	T>S		No	ClinGen TOPMed gnomAD
CA214323712 rs766435280	17	T>S		No	ClinGen ExAC TOPMed gnomAD
rs760903123 CA378328026	19	S>C		No	ClinGen ExAC TOPMed gnomAD
rs760903123 CA5721247	19	S>F		No	ClinGen ExAC TOPMed gnomAD
CA5721246 rs773358865	21	A>V		No	ClinGen ExAC gnomAD
COSM1297008 COSM1297010 COSM1297011 COSM1297009 rs189010277 CA5721244	22	R>Q	urinary_tract [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC gnomAD
CA5721243 rs774554190	23	P>H		No	ClinGen ExAC gnomAD
CA378327976 rs774554190	23	P>L		No	ClinGen ExAC gnomAD
rs1309596973 CA378327984	23	P>T		No	ClinGen TOPMed gnomAD
rs1379302733 CA378327926	26	S>N		No	ClinGen gnomAD
rs1466576334 CA378327917	26	S>R		No	ClinGen gnomAD
rs1294518519 CA378327912	27	L>V		No	ClinGen gnomAD
CA5721240 rs775194870	32	T>A		No	ClinGen ExAC gnomAD
rs1298138650 CA378327804	33	L>I		No	ClinGen TOPMed
rs373546701 CA5721238	34	E>Q		No	ClinGen ESP ExAC gnomAD
CA378325687 rs1248875226	38	P>L		No	ClinGen gnomAD
rs775973432 CA5721217	38	P>S		No	ClinGen ExAC gnomAD
CA378325682 rs1488994705	39	P>S		No	ClinGen gnomAD
CA5721215 rs746629822	40	T>I		No	ClinGen ExAC gnomAD
rs1212310813 CA378325671	41	K>E		No	ClinGen gnomAD
rs1333561230 CA378325660	42	Y>F		No	ClinGen gnomAD
rs771790476 CA5721213	43	Q>H		No	ClinGen ExAC gnomAD
CA5721214 rs777638930	43	Q>K		No	ClinGen ExAC TOPMed gnomAD
CA378325625 rs1367082521	47	P>A		No	ClinGen TOPMed
rs1367082521 CA378325623	47	P>S		No	ClinGen TOPMed
rs200700308 CA5721210	48	E>A		No	ClinGen ExAC TOPMed gnomAD
rs1372877545 CA378325591	49	V>G		No	ClinGen gnomAD
CA378325576 rs1307462454	51	V>M		No	ClinGen TOPMed
rs371358242 CA5721208	53	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5721206 rs151126801	54	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs971937812 CA214300274	55	G>R		No	ClinGen TOPMed
rs1590013421 CA378325526	56	E>*		No	ClinGen Ensembl
rs1158629849 CA378325506	57	S>A		No	ClinGen gnomAD
rs56226109 VAR_042204 CA159671	57	S>L		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA378325438 rs1590013253	60	V>G		No	ClinGen Ensembl
rs1354205157 CA378325433	61	R>C		No	ClinGen gnomAD
CA5721204 rs199575491	61	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs199575491 CA378325431	61	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1468387033 CA378325427	62	C>Y		No	ClinGen gnomAD
rs760115258 CA5721203	65	K>E		No	ClinGen ExAC gnomAD
rs148514974 CA5721202	66	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs1565000315 CA378325331	67	A>T		No	ClinGen Ensembl
rs145746586 CA5721201	67	A>V		No	ClinGen ESP ExAC gnomAD
rs374996878 CA378325308	68	A>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA5721199 COSM1703171 COSM1703170 rs374996878 COSM1703169	68	A>T	skin [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs537841180 CA5721198	68	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA378325287 rs1428037640	69	V>A		No	ClinGen TOPMed
CA5721196 rs371714070	69	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs768650541 CA5721195	70	I>V		No	ClinGen ExAC gnomAD
rs1376151869 CA378325157	77	V>E		No	ClinGen TOPMed
CA5721192 rs757219761 COSM1346349 COSM29840	77	V>M	large_intestine skin [Cosmic]	No	ClinGen cosmic curated ExAC
rs1590012664 CA378325109	80	G>R		No	ClinGen Ensembl
rs753179677 CA5721188	81	P>L		No	ClinGen ExAC gnomAD
COSM1603051 CA378325057 COSM1603049 COSM1603050 rs1378298459	82	N>K	liver [Cosmic]	No	ClinGen cosmic curated TOPMed
rs1172232293 CA378325064	82	N>S		No	ClinGen gnomAD
rs765682593 CA5721187	83	N>D		No	ClinGen ExAC gnomAD
CA214300167 rs748315048	83	N>S		No	ClinGen gnomAD
CA214300153 rs144714823	84	R>M		No	ClinGen Ensembl
CA378325026 rs779848635	84	R>S		No	ClinGen ExAC TOPMed gnomAD
rs1315026296 CA378325023	85	T>A		No	ClinGen TOPMed gnomAD
COSM1297007 rs1396687223 CA378325016	86	V>M	urinary_tract [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA5721184 rs200369248	88	I>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1013771410 CA214300145	94	I>M		No	ClinGen Ensembl
CA378324892 rs1277734487	96	G>V		No	ClinGen TOPMed gnomAD
RCV000592272 rs372430349 COSM49174 CA5721181	97	A>T	cervix [Cosmic]	No	ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs1483189961 CA378324880	98	T>A		No	ClinGen TOPMed
CA214300126 rs1041970177	98	T>M		No	ClinGen TOPMed gnomAD
rs1041970177 CA378324875	98	T>R		No	ClinGen TOPMed gnomAD
CA378324863 rs1324769001	100	R>G		No	ClinGen gnomAD
CA5721180 rs774193926	100	R>K		No	ClinGen ExAC gnomAD
CA5721177 rs775253363	104	L>F		No	ClinGen ExAC gnomAD
CA378324770 rs1188185824	108	T>A		No	ClinGen TOPMed
CA214300090 rs1055824076	112	T>A		No	ClinGen TOPMed
rs1170178043 CA378324693	115	S>C		No	ClinGen gnomAD
CA214300080 rs867109770	115	S>N		No	ClinGen TOPMed gnomAD
rs139263005 CA5721175	118	W>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA5721174 rs139263005	118	W>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs139263005 CA378324236	118	W>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA5721173 rs758751243	120	F>L		No	ClinGen ExAC gnomAD
CA214300056 rs910002462	121	M>L		No	ClinGen TOPMed gnomAD
rs748322657 CA5721172	121	M>T		No	ClinGen ExAC TOPMed gnomAD
CA5721171 rs779423644	122	V>M		No	ClinGen ExAC gnomAD
CA5721170 rs375935265	123	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1337077719 CA378323860	126	D>G		No	ClinGen gnomAD
CA378323811 rs1271274434	128	I>T		No	ClinGen gnomAD
rs780458049 CA5721151	131	G>R		No	ClinGen ExAC gnomAD
rs373155033 CA5721148	133	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs1281483681 CA378323721	133	D>N		No	ClinGen gnomAD
CA5721149 rs750876096	133	D>V		No	ClinGen ExAC gnomAD
CA5721146 rs751236652	134	E>V		No	ClinGen ExAC gnomAD
rs1267514450 CA378323637	137	T>I		No	ClinGen TOPMed gnomAD
rs1435487500 CA378323616	138	D>G		No	ClinGen TOPMed
CA214299342 rs938460066	138	D>N		No	ClinGen TOPMed
CA378323595 COSM1346341 COSM1346340 COSM1346343 COSM1346342 rs1324703247	139	G>D	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
rs927047637 CA214299340	139	G>S		No	ClinGen TOPMed gnomAD
RCV000994521 rs762636391 CA5721144	140	A>T		No	ClinGen ClinVar ExAC dbSNP gnomAD
CA5721143 rs752501698	140	A>V		No	ClinGen ExAC TOPMed gnomAD
CA5721141 rs759550441	141	E>K		No	ClinGen ExAC gnomAD
CA378323533 rs1195425758	144	V>I		No	ClinGen gnomAD
rs776668623 CA5721140	146	E>G		No	ClinGen ExAC gnomAD
rs772298926 CA5721139	148	S>G		No	ClinGen ExAC TOPMed gnomAD
CA378323504 rs772298926	148	S>R		No	ClinGen ExAC TOPMed gnomAD
CA378323474 rs1236074902	149	N>K		No	ClinGen TOPMed
CA5721138 rs762030875	150	N>S		No	ClinGen ExAC gnomAD
rs774538633 CA5721137	151	K>N		No	ClinGen ExAC
CA378320552 rs775743948	153	A>P		No	ClinGen ExAC TOPMed gnomAD
rs775743948 CA5721114	153	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1429393695 CA378320529	155	Y>C		No	ClinGen gnomAD
CA5721113 rs770169545	157	T>A		No	ClinGen ExAC TOPMed gnomAD
rs1314297833 CA378320492	157	T>I		No	ClinGen gnomAD
CA378320493 rs1314297833	157	T>S		No	ClinGen gnomAD
CA214292566 rs112880592	158	N>S		No	ClinGen Ensembl
COSM29837 CA214292561 rs866357501	160	E>A	skin [Cosmic]	No	ClinGen cosmic curated gnomAD
CA378320411 rs1374572387	162	M>T		No	ClinGen gnomAD
CA5721111 rs146244307	165	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA378320352 COSM1584814 COSM915510 COSM915508 rs1171095092 COSM915509	165	R>W	endometrium [Cosmic]	No	ClinGen cosmic curated gnomAD
CA378320179 rs1477520217	173	N>S		No	ClinGen gnomAD
rs1190271376 CA378320134	176	K>T		No	ClinGen gnomAD
rs974173968 CA378320099	178	R>C		No	ClinGen TOPMed gnomAD
CA5721108 rs141796960	178	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs141796960 CA378320089	178	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs974173968 CA214292545	178	R>S		No	ClinGen TOPMed gnomAD
rs200766273 CA5721105	182	G>R		No	ClinGen 1000Genomes ExAC gnomAD
CA378319998 rs200766273	182	G>R		No	ClinGen 1000Genomes ExAC gnomAD
CA5721104 rs200766273	182	G>W		No	ClinGen 1000Genomes ExAC gnomAD
CA5721102 rs202212545	184	N>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs750312209 CA5721100	184	N>K		No	ClinGen ExAC gnomAD
CA5721101 rs750312209	184	N>K		No	ClinGen ExAC gnomAD
CA378319947 rs202212545	184	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA378319945 rs202212545	184	N>T		No	ClinGen ESP ExAC TOPMed gnomAD
VAR_017260 CA159675 rs755793	186	M>T		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA5721099 rs55977237	186	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1564972481 RCV000722541 CA378319825	187	P>L		No	ClinGen ClinVar Ensembl dbSNP
CA378319789 rs1352732939	188	T>A		No	ClinGen gnomAD
CA214292510 rs761753706	189	M>T		No	ClinGen Ensembl
CA378319718 rs147987917	190	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs759750319 CA5721096	190	R>Q		No	ClinGen ExAC TOPMed gnomAD
RCV000306598 rs147987917 CA5721097	190	R>W		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA5721095 rs777039355	192	L>Q		No	ClinGen ExAC
rs1409994363 CA378319495	195	G>E		No	ClinGen TOPMed
rs1474313509 CA378319528	195	G>R		No	ClinGen gnomAD
CA378319408 rs1292300276	197	E>K		No	ClinGen TOPMed
CA214292498 rs867392273	199	K>R		No	ClinGen Ensembl
rs747502397 COSM1346331 COSM256961 CA5721093 COSM256959 COSM256960 RCV000489500	203	R>H	large_intestine [Cosmic]	No	ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD
CA378319059 rs1234891977	205	G>E		No	ClinGen TOPMed
rs773718005 CA5721092	206	G>S		No	ClinGen ExAC gnomAD
rs1373181160 CA378332654	209	V>L		No	ClinGen gnomAD
rs1373181160 CA378332655	209	V>L		No	ClinGen gnomAD
CA378332647 rs1302963489	210	R>G		No	ClinGen TOPMed
rs928457652 CA214327809	213	H>N		No	ClinGen Ensembl
CA214327806 rs1032413868	216	L>F		No	ClinGen Ensembl
rs1360830493 CA378332552	217	I>M		No	ClinGen TOPMed
COSM1346319 rs1390042185 CA378332529 COSM1346320 COSM1346321 COSM1346322	219	E>G	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1216426276 CA378332477	224	S>P		No	ClinGen TOPMed
rs537758598 CA5721073	225	D>E		No	ClinGen 1000Genomes ExAC gnomAD
CA214327793 rs146948953	228	N>I		No	ClinGen ESP TOPMed
rs368224180 CA5721072	229	Y>F		No	ClinGen ESP ExAC gnomAD
rs1435694211 CA378332383	233	V>M		No	ClinGen gnomAD
CA378332369 rs1432127277	234	E>A		No	ClinGen gnomAD
rs779806520 CA5721068	234	E>Q		No	ClinGen ExAC gnomAD
rs780846065 CA5721065	239	S>F		No	ClinGen ExAC gnomAD
CA5721066 rs555207905	239	S>T		No	ClinGen 1000Genomes ExAC gnomAD
rs751395138 CA5721063	240	I>M		No	ClinGen ExAC
CA5721064 rs757276690	240	I>V		No	ClinGen ExAC gnomAD
CA378332295 rs1313917697	241	N>D		No	ClinGen TOPMed
rs929190618 CA214327771	241	N>S		No	ClinGen TOPMed gnomAD
rs778994181 CA5721062	243	T>A		No	ClinGen ExAC gnomAD
rs755001161 CA5721061	243	T>M		No	ClinGen ExAC gnomAD
rs1330602328 CA378332248	245	H>Y		No	ClinGen gnomAD
COSM537802 CA378331057 COSM1139349 COSM537803 rs77543610 COSM537801	253	P>L	lung large_intestine [Cosmic]	No	ClinGen cosmic curated Ensembl
rs149200230 CA5721003	255	R>W		No	ClinGen ESP ExAC gnomAD
rs1364891245 CA378331042	256	P>S		No	ClinGen gnomAD
CA378330982 rs1375799439	266	A>S		No	ClinGen gnomAD
CA378330961 rs1424359588	269	V>A		No	ClinGen gnomAD
CA5720992 rs183250272	271	G>R		No	ClinGen 1000Genomes ExAC gnomAD
rs140427785 CA5720990	273	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA378330935 rs1488169619	274	V>I		No	ClinGen TOPMed gnomAD
CA5720988 rs762937564	277	V>A		No	ClinGen ExAC TOPMed gnomAD
rs941971394 CA214312955	279	K>R		No	ClinGen Ensembl
CA5720984 rs778094013	286	P>S		No	ClinGen ExAC gnomAD
CA378330729 rs1461081253	287	H>Y		No	ClinGen TOPMed
rs1217568539 CA378330712	288	I>V		No	ClinGen gnomAD
COSM1346283 COSM1346285 COSM41286 COSM683046 COSM1346284 COSM683045 COSM1346286 CA122994 rs121918499	290	W>C	lung large_intestine [Cosmic]	No	ClinGen cosmic curated Ensembl
rs748526473 CA5720982	293	H>Y		No	ClinGen ExAC TOPMed
rs755453106 CA5720980	294	V>M		No	ClinGen ExAC gnomAD
rs779566502 CA5720978	298	G>S		No	ClinGen ExAC gnomAD
CA378330499 rs1329431721	299	S>T		No	ClinGen gnomAD
rs755570604 CA5720977	300	K>R		No	ClinGen ExAC gnomAD
rs867084717 CA214312779	302	G>E		No	ClinGen Ensembl
rs1159063118 CA378330448	302	G>R		No	ClinGen TOPMed gnomAD
CA214312758 rs374608214	303	P>R		No	ClinGen ESP TOPMed gnomAD
CA214312712 rs199937788	306	L>V		No	ClinGen Ensembl
CA214312692 rs4647921	309	L>F		No	ClinGen Ensembl
CA5720969 rs771158421	311	V>I		No	ClinGen ExAC gnomAD
CA378328620 rs1358919643	314	A>T		No	ClinGen gnomAD
COSM30777 CA5720886 rs121918504	315	A>T	soft_tissue [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA378328578 rs1564913750	316	G>D		No	ClinGen Ensembl
rs1589828616 CA378328588	316	G>S		No	ClinGen Ensembl
CA378328519 rs1589828549	319	T>P		No	ClinGen Ensembl
CA378328473 rs1318903454	321	D>E		No	ClinGen TOPMed
rs371141402 CA5720883	322	K>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs371141402 CA5720882	322	K>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs868243618 CA214310298	325	E>K		No	ClinGen Ensembl
rs972534891 CA214310283	326	V>I		No	ClinGen Ensembl
CA214310240 COSM232341 rs200204947 COSM915500 COSM232340	330	R>W	endometrium skin [Cosmic]	No	ClinGen cosmic curated ESP TOPMed gnomAD
rs372612885 CA5720879	334	F>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs1354809777 CA378327689	353	H>R		No	ClinGen gnomAD
CA378327651 rs1274989878	359	V>I		No	ClinGen gnomAD
CA378327645 rs1437948804	360	L>V		No	ClinGen gnomAD
CA378327639 rs1322410924	361	P>S		No	ClinGen gnomAD
rs757846343 CA5720842	362	A>V		No	ClinGen ExAC TOPMed gnomAD
rs752220358 CA5720838	366	E>G		No	ClinGen ExAC TOPMed gnomAD
rs762423026 CA5720839	366	E>K		No	ClinGen ExAC TOPMed gnomAD
CA5720837 rs775136828	367	K>E		No	ClinGen ExAC gnomAD
rs1434819678 CA378327432	368	E>K		No	ClinGen TOPMed
rs143645832 CA214305542	368	E>V		No	ClinGen ESP TOPMed gnomAD
CA378327357 rs121913477	372	S>Y	Beare-stevenson cutis gyrata syndrome (bstvs) [Ensembl]	No	ClinGen TOPMed
rs1458741036 CA378327350	373	P>S		No	ClinGen TOPMed gnomAD
rs776413718 CA5720835	374	D>N		No	ClinGen ExAC gnomAD
rs1064796452 CA16618939 RCV000482209	381	Y>C		No	ClinGen ClinVar Ensembl dbSNP
rs773178450 CA5720832	383	I>T		No	ClinGen ExAC TOPMed gnomAD
CA378327224 rs1291834042	384	G>A		No	ClinGen gnomAD
CA5720829 rs780167791	386	F>V		No	ClinGen ExAC TOPMed gnomAD
rs769919776 CA5720828	388	I>V		No	ClinGen ExAC gnomAD
rs781714766 CA5720826	389	A>S		No	ClinGen ExAC TOPMed gnomAD
rs781714766 CA5720827 COSM49172	389	A>T	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1329578117 CA378327193	389	A>V		No	ClinGen gnomAD
CA5720824 rs751951199	391	M>V		No	ClinGen ExAC gnomAD
rs1022488982 CA214305414	394	T>A		No	ClinGen TOPMed gnomAD
rs971411400 CA214305405	394	T>I		No	ClinGen gnomAD
CA378327162 rs971411400	394	T>R		No	ClinGen gnomAD
rs1441011501 CA378327134	399	R>*		No	ClinGen gnomAD
rs1219597593 CA378327132	399	R>Q		No	ClinGen TOPMed gnomAD
rs752209605 CA5720821	400	M>K		No	ClinGen ExAC gnomAD
CA5720820 rs764748528 RCV000376970	402	N>S		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA5720819 rs753437208	403	T>K		No	ClinGen ExAC TOPMed gnomAD
rs753437208 CA5720818	403	T>M		No	ClinGen ExAC TOPMed gnomAD
CA214305327 rs1003638950	404	T>I		No	ClinGen TOPMed gnomAD
rs957258787 CA214305295	409	F>V		No	ClinGen Ensembl
rs1242158155 CA378327061	410	S>G		No	ClinGen TOPMed gnomAD
rs372348666 COSM1297005 COSM1297003 COSM1297006 CA5720813 COSM1297004	413	P>L	urinary_tract [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA5720811 rs769880096	414	A>T		No	ClinGen ExAC TOPMed gnomAD
CA378327025 rs1295460269	415	V>A		No	ClinGen gnomAD
rs1355130739 CA378327010	417	K>R		No	ClinGen TOPMed
rs1422125612 CA378326984	421	R>H		No	ClinGen gnomAD
rs747449724 CA378326975	422	I>M		No	ClinGen ExAC gnomAD
rs1291747099 CA378326969	423	P>L		No	ClinGen TOPMed
rs1207716999 CA378326972	423	P>S		No	ClinGen TOPMed
COSM1645327 CA214305230 rs998662110 COSM1645326 COSM1645325 COSM1645328	425	R>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA214305215 rs769536077	426	R>K		No	ClinGen Ensembl
rs1564909172 CA378326952	427	Q>E		No	ClinGen Ensembl
rs1483629749 CA378325604	431	S>L		No	ClinGen gnomAD
CA214297310 rs1045429276	433	E>D		No	ClinGen TOPMed
CA5720778 rs146589618	435	S>G		No	ClinGen ESP ExAC gnomAD
rs1346945144 CA378325507	438	M>T		No	ClinGen gnomAD
CA378325512 rs1564889250	438	M>V		No	ClinGen Ensembl
rs916042003 CA214297305	439	N>S		No	ClinGen TOPMed
CA378325475 rs1324981459	441	N>H		No	ClinGen gnomAD
CA5720777 rs368002690	442	T>N		No	ClinGen ESP ExAC gnomAD
CA5720775 rs757125418	443	P>L		No	ClinGen ExAC TOPMed gnomAD
CA378325404 rs757125418	443	P>R		No	ClinGen ExAC TOPMed gnomAD
rs776868501 CA5720771	445	V>M		No	ClinGen ExAC gnomAD
rs1372232738 CA378325354	446	R>G		No	ClinGen gnomAD
CA378325322 rs1187984599	448	T>A		No	ClinGen TOPMed gnomAD
CA5720769 rs761012674	449	T>A		No	ClinGen ExAC TOPMed gnomAD
rs536181987 CA5720768	450	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5720766 rs773245022	450	R>H		No	ClinGen ExAC TOPMed gnomAD
rs773245022 CA5720767	450	R>L		No	ClinGen ExAC TOPMed gnomAD
rs148672240 CA5720765	454	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA378325173 rs1251168391	455	A>T		No	ClinGen gnomAD
CA378325125 rs1245946700	457	T>N		No	ClinGen TOPMed gnomAD
rs1265366960 CA378325111	458	P>A		No	ClinGen TOPMed
CA5720763 rs370602437	459	M>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA5720762 rs370602437	459	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs745349225 CA5720760	461	A>S		No	ClinGen ExAC gnomAD
rs376451171 CA5720759	461	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA5720758 rs756855939	462	G>R		No	ClinGen ExAC gnomAD
rs751433223 CA5720757	463	V>D		No	ClinGen ExAC TOPMed gnomAD
rs751433223 CA378324999	463	V>G		No	ClinGen ExAC TOPMed gnomAD
CA214297254 rs974338458 COSM3806602 COSM3806603 COSM3806601 COSM3806604	470	E>D	breast [Cosmic]	No	ClinGen cosmic curated Ensembl
rs1459232873 CA378324847	472	P>L		No	ClinGen gnomAD
rs1383333777 CA378324838	473	K>I		No	ClinGen gnomAD
CA5720755 COSM1346243 rs758417193	475	E>G	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs777657579 CA5720756 COSM29826	475	E>K	skin [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA214297247 rs961233973	476	F>C		No	ClinGen Ensembl
rs752644307 CA5720754	477	P>A		No	ClinGen ExAC gnomAD
CA5720753 rs765241522	477	P>L		No	ClinGen ExAC gnomAD
rs760845434 CA5720752	479	D>H		No	ClinGen ExAC TOPMed gnomAD
CA5720733 rs767430380	483	L>P		No	ClinGen ExAC gnomAD
rs149962204 CA214295766	485	K>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA214295775 rs774235257	485	K>Q		No	ClinGen Ensembl
rs943204780 CA214295756	486	P>A		No	ClinGen Ensembl
rs1400354610 CA378323322	489	E>K		No	ClinGen gnomAD
CA214295737 rs986617010	494	Q>R		No	ClinGen TOPMed
CA5720731 rs751731391	496	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1173224369 CA378323048	502	G>E		No	ClinGen gnomAD
rs1384270958 CA378323057	502	G>R		No	ClinGen gnomAD
CA5720729 rs370273049	504	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA214295709 rs984960136	506	D>E		No	ClinGen Ensembl
CA378322953 rs1429693622	506	D>Y		No	ClinGen TOPMed
rs775829173 CA5720728	509	K>E		No	ClinGen ExAC gnomAD
rs770391340 CA5720727	509	K>R		No	ClinGen ExAC gnomAD
CA5720726 rs759906958	510	E>D		No	ClinGen ExAC TOPMed gnomAD
CA5720725 rs765066758	511	A>T		No	ClinGen ExAC TOPMed gnomAD
CA5720724 rs770309121	511	A>V		No	ClinGen ExAC gnomAD
rs1204979359 CA378322814	512	V>I		No	ClinGen gnomAD
rs1262068931 CA378322776	514	V>M		No	ClinGen TOPMed gnomAD
CA214294433 rs55689343	521	D>V		No	ClinGen ExAC TOPMed gnomAD
CA5720694 rs756076618	522	D>V		No	ClinGen ExAC TOPMed gnomAD
rs1389986512 CA378321804	522	D>Y		No	ClinGen TOPMed
rs868142351 CA214294417	527	D>N		No	ClinGen Ensembl
rs867786977 CA214294406 COSM29833	530	D>N	skin [Cosmic]	No	ClinGen cosmic curated Ensembl
CA214294402 rs999092280	535	M>L		No	ClinGen TOPMed
rs1293868545 CA378321579	536	E>Q		No	ClinGen gnomAD
rs758628019 CA5720691	537	M>K		No	ClinGen ExAC gnomAD
rs1358630379 CA378321507	540	M>I		No	ClinGen gnomAD
RCV000431202 CA16605830 rs1057524807	541	I>M		No	ClinGen ClinVar Ensembl dbSNP
CA5720690 rs752880857	542	G>R		No	ClinGen ExAC gnomAD
rs765658636 CA5720689	546	N>T		No	ClinGen ExAC TOPMed gnomAD
CA378321457 rs1375821471	547	I>M		No	ClinGen gnomAD
COSM3665554 rs763017169 CA214294397 COSM3665556 COSM3665555 COSM3665553	549	N>S	liver [Cosmic]	No	ClinGen cosmic curated Ensembl
CA5720688 rs755350933	550	L>P		No	ClinGen ExAC gnomAD
rs1215036637 CA378321419	550	L>V		No	ClinGen TOPMed
rs1252475021 CA378321325	556	Q>P		No	ClinGen TOPMed
rs761446954 CA5720662	558	G>E		No	ClinGen ExAC gnomAD
COSM1584818 COSM915483 COSM94319 rs751077552 CA5720661 COSM915484	560	L>F	lung endometrium [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs957991200 CA214293513	561	Y>S		No	ClinGen TOPMed
rs951260912 CA214293497	567	A>T		No	ClinGen Ensembl
rs371854567 CA5720659	572	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs1564875577 CA378320514 RCV000681721	573	R>*		No	ClinGen ClinVar Ensembl dbSNP
rs1345199187 CA378320389	578	A>G		No	ClinGen gnomAD
rs1564875549 RCV000722571 CA378320383	579	R>W		No	ClinGen ClinVar Ensembl dbSNP
rs1296941849 CA378320322	581	P>L		No	ClinGen gnomAD
CA378320254 rs1287829901	583	G>A		No	ClinGen gnomAD
rs138712692 CA5720657	583	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA378320242 COSM327234 COSM327233 rs1407878017 COSM327235	584	M>R	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated gnomAD
rs759496676 CA5720656	584	M>V		No	ClinGen ExAC TOPMed gnomAD
CA378320214 rs1564875377	585	E>G		No	ClinGen Ensembl
RCV000657844 rs1554914180 CA658822038	586	Y>*		No	ClinGen ClinVar Ensembl dbSNP
CA378320142 rs1173726351	587	S>A		No	ClinGen gnomAD
CA214293464 rs770827652	588	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs770827652 CA5720654	588	Y>S		No	ClinGen ExAC TOPMed gnomAD
rs1564875189 CA378319937	591	N>K		No	ClinGen Ensembl
CA5720651 rs768761510	592	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1201947648 CA378319751	598	M>V		No	ClinGen gnomAD
rs1485035386 CA378319625	601	K>Q		No	ClinGen gnomAD
CA5720649 rs780587674	601	K>R		No	ClinGen ExAC gnomAD
rs371395564 CA5720646	606	C>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA5720644 rs751047267	614	M>V		No	ClinGen ExAC TOPMed gnomAD
CA5720642 rs762545440	616	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA5720641 rs752349068	618	A>T		No	ClinGen ExAC
CA378318727 rs1451548514	619	S>F		No	ClinGen gnomAD
CA5720613 rs775697900	623	I>V		No	ClinGen ExAC gnomAD
CA378315088 rs1466101220	625	R>*		No	ClinGen gnomAD
rs1372392695 CA378314903 COSM1474411 COSM1474410 COSM1474412 COSM1474409	632	V>I	breast [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1243256163 CA378314862	634	V>I		No	ClinGen TOPMed
rs1490997619 CA378314797	638	N>D		No	ClinGen gnomAD
rs777169135 CA5720610	638	N>S		No	ClinGen ExAC gnomAD
CA378314717 rs1057519047	641	K>T		No	ClinGen Ensembl
RCV000478596 rs1064796413 CA16618938	642	I>K		No	ClinGen ClinVar Ensembl dbSNP
CA214290090 rs138631412	644	D>N		No	ClinGen Ensembl
CA5720606 rs758829154	650	D>G		No	ClinGen ExAC TOPMed gnomAD
CA214290086 rs1013096035	653	N>H		No	ClinGen gnomAD
CA378314337 rs1385830246	654	I>M		No	ClinGen gnomAD
CA378314348 rs1404851539	654	I>T		No	ClinGen gnomAD
rs747718232 CA5720605	654	I>V		No	ClinGen ExAC gnomAD
COSM49173 CA378314117 COSM683055 COSM683053 rs1589722765 COSM683054 VAR_017279	659	K>N	lung craniosynostosis; constitutive kinase activity endometrium breast [Cosmic, UniProt]	No	ClinGen cosmic curated UniProt Ensembl dbSNP
CA214290082 rs962103382	662	N>S		No	ClinGen TOPMed gnomAD
COSM174722 COSM915478 rs113014479 COSM174723 CA214289921 COSM1584820	664	R>W	large_intestine endometrium [Cosmic]	No	ClinGen cosmic curated gnomAD
COSM1703159 COSM1703158 CA214289917 rs868564661 COSM1703160 COSM1703161	666	P>S	skin [Cosmic]	No	ClinGen cosmic curated Ensembl
rs750244862 CA378313157	678	R>S		No	ClinGen ExAC TOPMed gnomAD
rs750244862 CA378313161	678	R>S		No	ClinGen ExAC TOPMed gnomAD
CA5720580 rs371596204	679	V>I		No	ClinGen ESP ExAC TOPMed
rs764102895 CA5720578	684	S>T		No	ClinGen ExAC gnomAD
CA5720577 rs760895785	686	V>I		No	ClinGen ExAC gnomAD
rs1311258996 CA378312627	690	G>R		No	ClinGen TOPMed
rs1589714245 CA378312593	691	V>G		No	ClinGen Ensembl
CA5720552 rs146571201	693	M>T		No	ClinGen ESP ExAC gnomAD
CA5720553 rs774682374	693	M>V		No	ClinGen ExAC TOPMed gnomAD
rs150015885 CA214289435	702	S>L		No	ClinGen ESP TOPMed
CA378312164 rs1196438732	709	V>M		No	ClinGen TOPMed
CA378311877 rs1470951612	718	E>A		No	ClinGen gnomAD
rs1589713974 CA378311880	718	E>K		No	ClinGen Ensembl
rs776188535 CA5720547	726	A>T		No	ClinGen ExAC gnomAD
rs1224863755 CA378311595	728	C>*		No	ClinGen gnomAD
CA5720546 rs200453002	730	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA378311538 rs1224606327	731	E>K		No	ClinGen gnomAD
COSM1730964 CA378311117 COSM1730961 rs1432567715 COSM1730963 COSM1730962	735	M>I	liver [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1157875939 CA378311078	737	R>T		No	ClinGen gnomAD
CA378311066 rs1259218325	738	D>N		No	ClinGen TOPMed
rs375719482 CA214288934	744	P>L		No	ClinGen ESP TOPMed gnomAD
rs747941020 CA5720525	744	P>S		No	ClinGen ExAC gnomAD
CA214288931 rs116895810	746	Q>H		No	ClinGen 1000Genomes
CA5720523 rs754928713	749	T>A		No	ClinGen ExAC TOPMed gnomAD
rs745947630 CA5720522	749	T>M		No	ClinGen ExAC gnomAD
CA5720520 rs757501816	751	K>Q		No	ClinGen ExAC gnomAD
rs777950855 CA5720518	754	V>G		No	ClinGen ExAC gnomAD
rs751731823 CA5720519	754	V>I		No	ClinGen ExAC gnomAD
rs1296874666 CA378310644	757	L>S		No	ClinGen gnomAD
CA214288923 rs868056281	759	R>*		No	ClinGen Ensembl
rs55774317 CA5720517 COSM29835	759	R>Q	skin [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA214288919 rs912905439	761	L>F		No	ClinGen TOPMed
CA378310532 rs1319294677	762	T>I		No	ClinGen gnomAD
rs765724372 CA5720515	766	N>S		No	ClinGen ExAC TOPMed gnomAD
CA5720468 rs763622845	768	E>K		No	ClinGen ExAC gnomAD
COSM29827 rs201752803 CA5720466	770	L>V	skin [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA5720464 rs759404861	771	D>E		No	ClinGen ExAC TOPMed gnomAD
rs765174665 CA5720465	771	D>N		No	ClinGen ExAC TOPMed gnomAD
CA378358816 rs966805990	772	L>F		No	ClinGen TOPMed
CA214952523 rs966805990	772	L>I		No	ClinGen TOPMed
rs1032609119 CA378358787	775	P>L		No	ClinGen TOPMed
CA214952522 rs1032609119	775	P>R		No	ClinGen TOPMed
rs374993905 CA378358776	777	E>*		No	ClinGen ESP ExAC TOPMed gnomAD
RCV000121065 COSM174052 CA159673 rs374993905	777	E>K	large_intestine [Cosmic]	No	ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs374993905 CA5720461	777	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA378358767 rs1388165238	778	Q>*		No	ClinGen gnomAD
CA378358742 rs1416453326	781	P>A		No	ClinGen gnomAD
rs147439731 CA5720459	782	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA214952520 rs954917585	784	P>S		No	ClinGen TOPMed gnomAD
rs1476013209 CA378358697	786	T>R		No	ClinGen gnomAD
CA5720458 rs780497781	790	C>Y		No	ClinGen ExAC TOPMed gnomAD
rs1206283619 CA378358635	793	G>E		No	ClinGen TOPMed
rs756718577 CA5720457	794	D>N		No	ClinGen ExAC gnomAD
CA214952519 rs1024846807	795	D>N		No	ClinGen TOPMed
CA5720456 rs746336453	800	P>L		No	ClinGen ExAC TOPMed gnomAD
CA378358566 rs1589692561	801	D>A		No	ClinGen Ensembl
rs1030464761 CA214952518 COSM1504337	803	M>I	lung [Cosmic]	No	ClinGen cosmic curated Ensembl
rs781527776 CA5720455	803	M>V		No	ClinGen ExAC TOPMed gnomAD
CA5720453 rs575812178	804	P>A		No	ClinGen 1000Genomes ExAC gnomAD
CA5720454 rs575812178	804	P>S		No	ClinGen 1000Genomes ExAC gnomAD
rs558460047 CA378358532	805	Y>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs763867175 CA5720452	805	Y>S		No	ClinGen ExAC gnomAD
rs764959117 CA5720450	806	E>Q		No	ClinGen ExAC gnomAD
CA378358518 rs1564843479	807	P>L		No	ClinGen Ensembl
rs1430681691 CA378358510	808	C>F		No	ClinGen TOPMed
rs759496942 CA5720448	808	C>W		No	ClinGen ExAC TOPMed gnomAD
rs368003279 CA5720447	809	L>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA378358499 rs1315946112	810	P>T		No	ClinGen gnomAD
rs1450657969 CA378358490	811	Q>K		No	ClinGen gnomAD
rs766217118 CA5720446	812	Y>C		No	ClinGen ExAC gnomAD
CA5720445 rs567030847	813	P>R		No	ClinGen 1000Genomes ExAC gnomAD
rs1287097832 CA378358455	815	I>V		No	ClinGen Ensembl
rs144176428 CA5720442	817	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs749474548 CA5720441	818	S>G		No	ClinGen ExAC gnomAD
rs1183290679 CA378358426	819	V>I		No	ClinGen gnomAD
CA378358427 rs1183290679	819	V>L		No	ClinGen gnomAD
CA214952516 rs866527033	821	T>A		No	ClinGen Ensembl

10 associated diseases with P21802

[MIM: 123500]: Crouzon syndrome (CS)

An autosomal dominant syndrome characterized by craniosynostosis, hypertelorism, exophthalmos and external strabismus, parrot-beaked nose, short upper lip, hypoplastic maxilla, and a relative mandibular prognathism. {ECO:0000269|PubMed:10574673, ECO:0000269|PubMed:11173845, ECO:0000269|PubMed:11380921, ECO:0000269|PubMed:11781872, ECO:0000269|PubMed:17803937, ECO:0000269|PubMed:7581378, ECO:0000269|PubMed:7655462, ECO:0000269|PubMed:7874170, ECO:0000269|PubMed:7987400, ECO:0000269|PubMed:8528214, ECO:0000269|PubMed:8644708, ECO:0000269|PubMed:8946174, ECO:0000269|PubMed:8956050, ECO:0000269|PubMed:9152842, ECO:0000269|PubMed:9521581, ECO:0000269|PubMed:9677057, ECO:0000269|Ref.10}. Note=The disease is caused by variants affecting the gene represented in this entry.

[MIM: 123150]: Jackson-Weiss syndrome (JWS)

An autosomal dominant craniosynostosis syndrome characterized by craniofacial abnormalities and abnormality of the feet

[MIM: 101200]: Apert syndrome (APRS)

A syndrome characterized by facio-cranio-synostosis, osseous and membranous syndactyly of the four extremities, and midface hypoplasia. The craniosynostosis is bicoronal and results in acrocephaly of brachysphenocephalic type. Syndactyly of the fingers and toes may be total (mitten hands and sock feet) or partial affecting the second, third, and fourth digits. Intellectual deficit is frequent and often severe, usually being associated with cerebral malformations. {ECO:0000269|PubMed:11390973, ECO:0000269|PubMed:11781872, ECO:0000269|PubMed:15190072, ECO:0000269|PubMed:7668257, ECO:0000269|PubMed:7719344, ECO:0000269|PubMed:9002682, ECO:0000269|PubMed:9452027, ECO:0000269|PubMed:9677057}. Note=The disease is caused by variants affecting the gene represented in this entry.

[MIM: 101600]: Pfeiffer syndrome (PS)

A syndrome characterized by the association of craniosynostosis, broad and deviated thumbs and big toes, and partial syndactyly of the fingers and toes. Three subtypes are known

[MIM: 123790]: Beare-Stevenson cutis gyrata syndrome (BSTVS)

An autosomal dominant disease characterized by craniofacial anomalies, particularly craniosynostosis, and ear defects, cutis gyrata, acanthosis nigricans, anogenital anomalies, skin tags, and prominent umbilical stump. The skin furrows have a corrugated appearance and are widespread. Cutis gyrata variably affects the scalp, forehead, face, preauricular area, neck, trunk, hands, and feet. {ECO:0000269|PubMed:12000365, ECO:0000269|PubMed:8696350}. Note=The disease is caused by variants affecting the gene represented in this entry.

[MIM: 609579]: Familial scaphocephaly syndrome (FSPC)

An autosomal dominant craniosynostosis syndrome characterized by scaphocephaly, macrocephaly, hypertelorism, maxillary retrusion, and mild intellectual disability. Scaphocephaly is the most common of the craniosynostosis conditions and is characterized by a long, narrow head. It is due to premature fusion of the sagittal suture or from external deformation. {ECO:0000269|PubMed:16061565, ECO:0000269|PubMed:17803937}. Note=The disease is caused by variants affecting the gene represented in this entry.

[MIM: 149730]: Lacrimo-auriculo-dento-digital syndrome (LADDS)

An autosomal dominant ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. Lacrimo-auriculo-dento-digital syndrome is characterized by aplastic/hypoplastic lacrimal and salivary glands and ducts, cup-shaped ears, hearing loss, hypodontia and enamel hypoplasia, and distal limb segments anomalies. In addition to these cardinal features, facial dysmorphism, malformations of the kidney and respiratory system and abnormal genitalia have been reported. Craniosynostosis and severe syndactyly are not observed. {ECO:0000269|PubMed:16501574, ECO:0000269|PubMed:18056630}. Note=The disease is caused by variants affecting the gene represented in this entry.

[MIM: 207410]: Antley-Bixler syndrome, without genital anomalies or disordered steroidogenesis (ABS2)

A rare syndrome characterized by craniosynostosis, radiohumeral synostosis present from the perinatal period, midface hypoplasia, choanal stenosis or atresia, femoral bowing and multiple joint contractures. Arachnodactyly and/or camptodactyly have also been reported. {ECO:0000269|PubMed:10633130}. Note=The disease is caused by variants affecting the gene represented in this entry.

[MIM: 614592]: Bent bone dysplasia syndrome (BBDS)

A perinatal lethal skeletal dysplasia characterized by poor mineralization of the calvarium, craniosynostosis, dysmorphic facial features, prenatal teeth, hypoplastic pubis and clavicles, osteopenia, and bent long bones. Dysmorphic facial features included low-set ears, hypertelorism, midface hypoplasia, prematurely erupted fetal teeth, and micrognathia. {ECO:0000269|PubMed:22387015}. Note=The disease is caused by variants affecting the gene represented in this entry.

[MIM: 101400]: Saethre-Chotzen syndrome (SCS)

A craniosynostosis syndrome characterized by coronal synostosis, brachycephaly, low frontal hairline, facial asymmetry, hypertelorism, broad halluces, and clinodactyly. {ECO:0000269|PubMed:9585583}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

An autosomal dominant syndrome characterized by craniosynostosis, hypertelorism, exophthalmos and external strabismus, parrot-beaked nose, short upper lip, hypoplastic maxilla, and a relative mandibular prognathism. {ECO:0000269|PubMed:10574673, ECO:0000269|PubMed:11173845, ECO:0000269|PubMed:11380921, ECO:0000269|PubMed:11781872, ECO:0000269|PubMed:17803937, ECO:0000269|PubMed:7581378, ECO:0000269|PubMed:7655462, ECO:0000269|PubMed:7874170, ECO:0000269|PubMed:7987400, ECO:0000269|PubMed:8528214, ECO:0000269|PubMed:8644708, ECO:0000269|PubMed:8946174, ECO:0000269|PubMed:8956050, ECO:0000269|PubMed:9152842, ECO:0000269|PubMed:9521581, ECO:0000269|PubMed:9677057, ECO:0000269|Ref.10}. Note=The disease is caused by variants affecting the gene represented in this entry.
An autosomal dominant craniosynostosis syndrome characterized by craniofacial abnormalities and abnormality of the feet
A syndrome characterized by facio-cranio-synostosis, osseous and membranous syndactyly of the four extremities, and midface hypoplasia. The craniosynostosis is bicoronal and results in acrocephaly of brachysphenocephalic type. Syndactyly of the fingers and toes may be total (mitten hands and sock feet) or partial affecting the second, third, and fourth digits. Intellectual deficit is frequent and often severe, usually being associated with cerebral malformations. {ECO:0000269|PubMed:11390973, ECO:0000269|PubMed:11781872, ECO:0000269|PubMed:15190072, ECO:0000269|PubMed:7668257, ECO:0000269|PubMed:7719344, ECO:0000269|PubMed:9002682, ECO:0000269|PubMed:9452027, ECO:0000269|PubMed:9677057}. Note=The disease is caused by variants affecting the gene represented in this entry.
A syndrome characterized by the association of craniosynostosis, broad and deviated thumbs and big toes, and partial syndactyly of the fingers and toes. Three subtypes are known
An autosomal dominant disease characterized by craniofacial anomalies, particularly craniosynostosis, and ear defects, cutis gyrata, acanthosis nigricans, anogenital anomalies, skin tags, and prominent umbilical stump. The skin furrows have a corrugated appearance and are widespread. Cutis gyrata variably affects the scalp, forehead, face, preauricular area, neck, trunk, hands, and feet. {ECO:0000269|PubMed:12000365, ECO:0000269|PubMed:8696350}. Note=The disease is caused by variants affecting the gene represented in this entry.
An autosomal dominant craniosynostosis syndrome characterized by scaphocephaly, macrocephaly, hypertelorism, maxillary retrusion, and mild intellectual disability. Scaphocephaly is the most common of the craniosynostosis conditions and is characterized by a long, narrow head. It is due to premature fusion of the sagittal suture or from external deformation. {ECO:0000269|PubMed:16061565, ECO:0000269|PubMed:17803937}. Note=The disease is caused by variants affecting the gene represented in this entry.
An autosomal dominant ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. Lacrimo-auriculo-dento-digital syndrome is characterized by aplastic/hypoplastic lacrimal and salivary glands and ducts, cup-shaped ears, hearing loss, hypodontia and enamel hypoplasia, and distal limb segments anomalies. In addition to these cardinal features, facial dysmorphism, malformations of the kidney and respiratory system and abnormal genitalia have been reported. Craniosynostosis and severe syndactyly are not observed. {ECO:0000269|PubMed:16501574, ECO:0000269|PubMed:18056630}. Note=The disease is caused by variants affecting the gene represented in this entry.
A rare syndrome characterized by craniosynostosis, radiohumeral synostosis present from the perinatal period, midface hypoplasia, choanal stenosis or atresia, femoral bowing and multiple joint contractures. Arachnodactyly and/or camptodactyly have also been reported. {ECO:0000269|PubMed:10633130}. Note=The disease is caused by variants affecting the gene represented in this entry.
A perinatal lethal skeletal dysplasia characterized by poor mineralization of the calvarium, craniosynostosis, dysmorphic facial features, prenatal teeth, hypoplastic pubis and clavicles, osteopenia, and bent long bones. Dysmorphic facial features included low-set ears, hypertelorism, midface hypoplasia, prematurely erupted fetal teeth, and micrognathia. {ECO:0000269|PubMed:22387015}. Note=The disease is caused by variants affecting the gene represented in this entry.
A craniosynostosis syndrome characterized by coronal synostosis, brachycephaly, low frontal hairline, facial asymmetry, hypertelorism, broad halluces, and clinodactyly. {ECO:0000269|PubMed:9585583}. Note=The disease is caused by variants affecting the gene represented in this entry.

7 regional properties for P21802

Type	Name	Position	InterPro Accession
domain	CDC48, N-terminal subdomain	5 - 86	IPR003338
domain	AAA+ ATPase domain	252 - 399	IPR003593-1
domain	AAA+ ATPase domain	535 - 671	IPR003593-2
domain	ATPase, AAA-type, core	256 - 396	IPR003959-1
domain	ATPase, AAA-type, core	539 - 668	IPR003959-2
conserved_site	ATPase, AAA-type, conserved site	367 - 385	IPR003960
domain	CDC48, domain 2	111 - 183	IPR004201

Functions

		Description
EC Number	2.7.10.1	Protein-tyrosine kinases
Subcellular Localization	Cell membrane; Single-pass type I membrane protein Golgi apparatus Cytoplasmic vesicle	Detected on osteoblast plasma membrane lipid rafts After ligand binding, the activated receptor is rapidly internalized and degraded
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

13 GO annotations of cellular component

Name	Definition
cell cortex	The region of a cell that lies just beneath the plasma membrane and often, but not always, contains a network of actin filaments and associated proteins.
cell surface	The external part of the cell wall and/or plasma membrane.
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytoplasmic vesicle	A vesicle found in the cytoplasm of a cell.
excitatory synapse	A synapse in which an action potential in the presynaptic cell increases the probability of an action potential occurring in the postsynaptic cell.
extracellular region	The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite.
Golgi apparatus	A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways.
integral component of membrane	The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.
integral component of plasma membrane	The component of the plasma membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.
membrane	A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.
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.
receptor complex	Any protein complex that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function.

9 GO annotations of molecular function

Name	Definition
ATP binding	Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
fibroblast growth factor binding	Binding to a fibroblast growth factor.
fibroblast growth factor-activated receptor activity	Combining with a fibroblast growth factor receptor ligand and transmitting the signal across the plasma membrane to initiate a change in cell activity.
heparin binding	Binding to heparin, a member of a group of glycosaminoglycans found mainly as an intracellular component of mast cells and which consist predominantly of alternating alpha-(1->4)-linked D-galactose and N-acetyl-D-glucosamine-6-sulfate residues.
identical protein binding	Binding to an identical protein or proteins.
protein homodimerization activity	Binding to an identical protein to form a homodimer.
protein serine/threonine/tyrosine kinase activity	Catalysis of the reactions: ATP + a protein serine = ADP + protein serine phosphate; ATP + a protein threonine = ADP + protein threonine phosphate; and ATP + a protein tyrosine = ADP + protein tyrosine phosphate.
protein tyrosine kinase activity	Catalysis of the reaction: ATP + a protein tyrosine = ADP + protein tyrosine phosphate.
transmembrane receptor protein tyrosine kinase activity	Combining with a signal and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity by catalysis of the reaction: ATP + a protein-L-tyrosine = ADP + a protein-L-tyrosine phosphate.

98 GO annotations of biological process

Name	Definition
angiogenesis	Blood vessel formation when new vessels emerge from the proliferation of pre-existing blood vessels.
animal organ morphogenesis	Morphogenesis of an animal organ. An organ is defined as a tissue or set of tissues that work together to perform a specific function or functions. Morphogenesis is the process in which anatomical structures are generated and organized. Organs are commonly observed as visibly distinct structures, but may also exist as loosely associated clusters of cells that work together to perform a specific function or functions.
apoptotic process	A programmed cell death process which begins when a cell receives an internal (e.g. DNA damage) or external signal (e.g. an extracellular death ligand), and proceeds through a series of biochemical events (signaling pathway phase) which trigger an execution phase. The execution phase is the last step of an apoptotic process, and is typically characterized by rounding-up of the cell, retraction of pseudopodes, reduction of cellular volume (pyknosis), chromatin condensation, nuclear fragmentation (karyorrhexis), plasma membrane blebbing and fragmentation of the cell into apoptotic bodies. When the execution phase is completed, the cell has died.
axonogenesis	De novo generation of a long process of a neuron, including the terminal branched region. Refers to the morphogenesis or creation of shape or form of the developing axon, which carries efferent (outgoing) action potentials from the cell body towards target cells.
bone development	The process whose specific outcome is the progression of bone over time, from its formation to the mature structure. Bone is the hard skeletal connective tissue consisting of both mineral and cellular components.
bone mineralization	The deposition of hydroxyapatite, a form of calcium phosphate with the formula Ca10(PO4)6(OH)2, in bone tissue.
bone morphogenesis	The process in which bones are generated and organized.
branch elongation involved in salivary gland morphogenesis	The differential growth of the salivary branches along their axis, resulting in the growth of a branch.
branching involved in labyrinthine layer morphogenesis	The process in which the branches of the fetal placental villi are generated and organized. The villous part of the placenta is called the labyrinth layer.
branching involved in prostate gland morphogenesis	The process in which the branching structure of the prostate gland is generated and organized. A branch is a division or offshoot from a main stem.
branching involved in salivary gland morphogenesis	The process in which the branching structure of the salivary gland is generated and organized.
branching morphogenesis of a nerve	The process in which the anatomical structures of branches in a nerve are generated and organized. This term refers to an anatomical structure (nerve) not a cell (neuron).
bud elongation involved in lung branching	The process in which a bud in the lung grows out from the point where it is formed.
cell fate commitment	The commitment of cells to specific cell fates and their capacity to differentiate into particular kinds of cells. Positional information is established through protein signals that emanate from a localized source within a cell (the initial one-cell zygote) or within a developmental field.
cell-cell signaling	Any process that mediates the transfer of information from one cell to another. This process includes signal transduction in the receiving cell and, where applicable, release of a ligand and any processes that actively facilitate its transport and presentation to the receiving cell. Examples include signaling via soluble ligands, via cell adhesion molecules and via gap junctions.
cellular response to retinoic acid	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 retinoic acid stimulus.
cellular response to transforming growth factor beta stimulus	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 transforming growth factor beta stimulus.
digestive tract development	The process whose specific outcome is the progression of the digestive tract over time, from its formation to the mature structure. The digestive tract is the anatomical structure through which food passes and is processed.
embryonic cranial skeleton morphogenesis	The process in which the anatomical structures of the cranial skeleton are generated and organized during the embryonic phase.
embryonic digestive tract morphogenesis	The process in which the anatomical structures of the digestive tract are generated and organized during embryonic development. The digestive tract is the anatomical structure through which food passes and is processed.
embryonic organ development	Development, taking place during the embryonic phase, of a tissue or tissues that work together to perform a specific function or functions. Development pertains to the process whose specific outcome is the progression of a structure over time, from its formation to the mature structure. Organs are commonly observed as visibly distinct structures, but may also exist as loosely associated clusters of cells that work together to perform a specific function or functions.
embryonic organ morphogenesis	Morphogenesis, during the embryonic phase, of a tissue or tissues that work together to perform a specific function or functions. Morphogenesis is the process in which anatomical structures are generated and organized. Organs are commonly observed as visibly distinct structures, but may also exist as loosely associated clusters of cells that work together to perform a specific function or functions.
embryonic pattern specification	The process that results in the patterns of cell differentiation that will arise in an embryo.
endochondral bone growth	The increase in size or mass of an endochondral bone that contributes to the shaping of the bone.
epidermis morphogenesis	The process in which the anatomical structures of the epidermis are generated and organized. The epidermis is the outer epithelial layer of an animal, it may be a single layer that produces an extracellular material (e.g. the cuticle of arthropods) or a complex stratified squamous epithelium, as in the case of many vertebrate species.
epithelial cell differentiation	The process in which a relatively unspecialized cell acquires specialized features of an epithelial cell, any of the cells making up an epithelium.
epithelial cell proliferation involved in salivary gland morphogenesis	The multiplication or reproduction of epithelial cells of the submandibular salivary gland, resulting in the expansion of a cell population and the shaping of the gland.
epithelial to mesenchymal transition	A transition where an epithelial cell loses apical/basolateral polarity, severs intercellular adhesive junctions, degrades basement membrane components and becomes a migratory mesenchymal cell.
fibroblast growth factor receptor signaling pathway	The series of molecular signals generated as a consequence of a fibroblast growth factor receptor binding to one of its physiological ligands.
fibroblast growth factor receptor signaling pathway involved in hemopoiesis	The series of molecular signals generated as a consequence of a fibroblast growth factor receptor binding to one of its physiological ligands, which contributes to hemopoiesis.
fibroblast growth factor receptor signaling pathway involved in mammary gland specification	The series of molecular signals initiated by binding of a fibroblast growth factor to its receptor on the surface of al cell in the epidermis resulting in the formation of the mammary line. The mammary line is a ridge of epidermal cells that will form the mammary placodes.
fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptotic process in bone marrow cell	The series of molecular signals generated as a consequence of a fibroblast growth factor receptor binding to one of its physiological ligands, which stops, prevents, or reduces the frequency, rate or extent of the occurrence or rate of cell death by apoptotic process in the bone marrow.
fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development	The series of molecular signals generated as a consequence of a fibroblast growth factor-type receptor binding to one of its physiological ligands, which contributes to the progression of the orbitofrontal cortex over time from its initial formation until its mature state.
fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow	The series of molecular signals generated as a consequence of a fibroblast growth factor receptor binding to one of its physiological ligands, which activates or increases the frequency, rate or extent of cell proliferation in the bone marrow.
gland morphogenesis	The process in which the anatomical structures of a gland are generated and organized.
hair follicle morphogenesis	The process in which the anatomical structures of the hair follicle are generated and organized.
in utero embryonic development	The process whose specific outcome is the progression of the embryo in the uterus over time, from formation of the zygote in the oviduct, to birth. An example of this process is found in Mus musculus.
inner ear morphogenesis	The process in which the anatomical structures of the inner ear are generated and organized. The inner ear is the structure in vertebrates that contains the organs of balance and hearing. It consists of soft hollow sensory structures (the membranous labyrinth) containing fluid (endolymph) surrounded by fluid (perilymph) and encased in a bony cavity (the bony labyrinth). It consists of two chambers, the sacculus and utriculus, from which arise the cochlea and semicircular canals respectively.
lacrimal gland development	The process whose specific outcome is the progression of the lacrimal gland over time, from its formation to the mature structure. The lacrimal gland produces secretions that lubricate and protect the cornea of the eye.
lateral sprouting from an epithelium	The process in which a branch forms along the side of an epithelium.
limb bud formation	The process pertaining to the initial formation of a limb bud from unspecified parts. This process begins with the formation of a local condensation of mesenchyme cells within the prospective limb field, and ends when a limb bud is recognizable.
lung alveolus development	The process whose specific outcome is the progression of the alveolus over time, from its formation to the mature structure. The alveolus is a sac for holding air in the lungs; formed by the terminal dilation of air passageways.
lung development	The process whose specific outcome is the progression of the lung over time, from its formation to the mature structure. In all air-breathing vertebrates the lungs are developed from the ventral wall of the oesophagus as a pouch which divides into two sacs. In amphibians and many reptiles the lungs retain very nearly this primitive sac-like character, but in the higher forms the connection with the esophagus becomes elongated into the windpipe and the inner walls of the sacs become more and more divided, until, in the mammals, the air spaces become minutely divided into tubes ending in small air cells, in the walls of which the blood circulates in a fine network of capillaries. In mammals the lungs are more or less divided into lobes, and each lung occupies a separate cavity in the thorax.
lung lobe morphogenesis	The process in which the anatomical structures of a lung lobe are generated and organized. A lung lobe is a projection that extends from the lung.
lung-associated mesenchyme development	The biological process whose specific outcome is the progression of a lung-associated mesenchyme from an initial condition to its mature state. This process begins with the formation of lung-associated mesenchyme and ends with the mature structure. Lung-associated mesenchyme is the tissue made up of loosely connected mesenchymal cells in the lung.
mammary gland bud formation	The morphogenetic process in which a bud forms from the mammary placode. A mammary bud is bulb of epithelial cells that is distinct from the surrounding epidermis.
membranous septum morphogenesis	The process in which the membranous septum is generated and organized. The membranous septum is the upper part of ventricular septum.
mesenchymal cell differentiation	The process in which a relatively unspecialized cell acquires specialized features of a mesenchymal cell. A mesenchymal cell is a loosely associated cell that is part of the connective tissue in an organism. Mesenchymal cells give rise to more mature connective tissue cell types.
mesenchymal cell differentiation involved in lung development	The process in which a relatively unspecialized cell acquires specialized features of a mesenchymal cell of the lung. A mesenchymal cell is a loosely associated cell that is part of the connective tissue in an organism. Mesenchymal cells give rise to more mature connective tissue cell types.
mesenchymal cell proliferation involved in lung development	The multiplication or reproduction of cells, resulting in the expansion of a mesenchymal cell population that contributes to the progression of the lung over time. A mesenchymal cell is a cell that normally gives rise to other cells that are organized as three-dimensional masses, rather than sheets.
mesodermal cell differentiation	The process in which a relatively unspecialized cell acquires the specialized features of a mesoderm cell.
midbrain development	The process whose specific outcome is the progression of the midbrain over time, from its formation to the mature structure. The midbrain is the middle division of the three primary divisions of the developing chordate brain or the corresponding part of the adult brain (in vertebrates, includes a ventral part containing the cerebral peduncles and a dorsal tectum containing the corpora quadrigemina and that surrounds the aqueduct of Sylvius connecting the third and fourth ventricles).
morphogenesis of embryonic epithelium	The process in which the anatomical structures of embryonic epithelia are generated and organized.
negative regulation of keratinocyte proliferation	Any process that decreases the rate, frequency or extent of keratinocyte proliferation. Keratinocyte proliferation is the multiplication or reproduction of keratinocytes, resulting in the expansion of a cell population.
negative regulation of transcription by RNA polymerase II	Any process that stops, prevents, or reduces the frequency, rate or extent of transcription mediated by RNA polymerase II.
odontogenesis	The process whose specific outcome is the progression of a tooth or teeth over time, from formation to the mature structure(s). A tooth is any hard bony, calcareous, or chitinous organ found in the mouth or pharynx of an animal and used in procuring or masticating food.
orbitofrontal cortex development	The progression of the orbitofrontal cortex over time from its initial formation until its mature state. The orbitofrontal cortex is a cerebral cortex region located in the frontal lobe.
organ growth	The increase in size or mass of an organ. Organs are commonly observed as visibly distinct structures, but may also exist as loosely associated clusters of cells that function together as to perform a specific function.
otic vesicle formation	The process resulting in the transition of the otic placode into the otic vesicle, a transient embryonic structure formed during development of the vertebrate inner ear.
outflow tract septum morphogenesis	The process in which the anatomical structures of the outflow tract septum are generated and organized. The outflow tract septum is a partition in the outflow tract.
peptidyl-tyrosine phosphorylation	The phosphorylation of peptidyl-tyrosine to form peptidyl-O4'-phospho-L-tyrosine.
positive regulation of canonical Wnt signaling pathway	Any process that increases the rate, frequency, or extent of the Wnt signaling pathway through beta-catenin, the series of molecular signals initiated by binding of a Wnt protein to a frizzled family receptor on the surface of the target cell, followed by propagation of the signal via beta-catenin, and ending with a change in transcription of target genes.
positive regulation of cardiac muscle cell proliferation	Any process that activates or increases the frequency, rate or extent of cardiac muscle cell proliferation.
positive regulation of cell cycle	Any process that activates or increases the rate or extent of progression through the cell cycle.
positive regulation of cell division	Any process that activates or increases the frequency, rate or extent of cell division.
positive regulation of cell population proliferation	Any process that activates or increases the rate or extent of cell proliferation.
positive regulation of epithelial cell proliferation	Any process that activates or increases the rate or extent of epithelial cell proliferation.
positive regulation of epithelial cell proliferation involved in lung morphogenesis	Any process that increases the rate or frequency of epithelial cell proliferation that results in the lung attaining its shape.
positive regulation of ERK1 and ERK2 cascade	Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the ERK1 and ERK2 cascade.
positive regulation of kinase activity	Any process that activates or increases the frequency, rate or extent of kinase activity, the catalysis of the transfer of a phosphate group, usually from ATP, to a substrate molecule.
positive regulation of MAPK cascade	Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the MAPK cascade.
positive regulation of mesenchymal cell proliferation	The process of activating or increasing the rate or extent of mesenchymal cell proliferation. Mesenchymal cells are loosely organized embryonic cells.
positive regulation of phospholipase activity	Any process that increases the frequency, rate or extent of phospholipase activity, the hydrolysis of a phospholipid.
positive regulation of smooth muscle cell proliferation	Any process that activates or increases the rate or extent of smooth muscle cell proliferation.
positive regulation of transcription by RNA polymerase II	Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter.
positive regulation of Wnt signaling pathway	Any process that activates or increases the frequency, rate or extent of Wnt signal transduction.
post-embryonic development	The process whose specific outcome is the progression of the organism over time, from the completion of embryonic development to the mature structure. See embryonic development.
prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis	The branching morphogenesis process in which the prostate epithelial cords branch freely to create the structure of the prostate acini.
prostate epithelial cord elongation	The developmental growth process in which solid chords of prostate epithelium increase in length.
prostate gland morphogenesis	The process in which the anatomical structures of a prostate gland are generated and organized.
protein autophosphorylation	The phosphorylation by a protein of one or more of its own amino acid residues (cis-autophosphorylation), or residues on an identical protein (trans-autophosphorylation).
pyramidal neuron development	The progression of a pyramidal neuron from its initial formation to its mature state.
regulation of ERK1 and ERK2 cascade	Any process that modulates the frequency, rate or extent of signal transduction mediated by the ERK1 and ERK2 cascade.
regulation of morphogenesis of a branching structure	Any process that modulates the rate, frequency, or extent of branching morphogenesis, the process in which the anatomical structures of branches are generated and organized.
regulation of osteoblast differentiation	Any process that modulates the frequency, rate or extent of osteoblast differentiation.
regulation of osteoblast proliferation	Any process that modulates the frequency, rate or extent of osteoblast proliferation.
regulation of smooth muscle cell differentiation	Any process that modulates the frequency, rate or extent of smooth muscle cell differentiation.
regulation of smoothened signaling pathway	Any process that modulates the frequency, rate or extent of smoothened signaling.
reproductive structure development	The reproductive developmental process whose specific outcome is the progression of somatic structures that will be used in the process of creating new individuals from one or more parents, from their formation to the mature structures.
response to ethanol	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an ethanol stimulus.
response to lipopolysaccharide	Any process that results in a change in state or activity of an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a lipopolysaccharide stimulus; lipopolysaccharide is a major component of the cell wall of gram-negative bacteria.
skeletal system morphogenesis	The process in which the anatomical structures of the skeleton are generated and organized.
squamous basal epithelial stem cell differentiation involved in prostate gland acinus development	The process in which a relatively unspecialized epithelial cell acquires specialized features of a squamous basal epithelial stem cell of the prostate.
transmembrane receptor protein tyrosine kinase signaling pathway	The series of molecular signals initiated by an extracellular ligand binding to a receptor on the surface of the target cell where the receptor possesses tyrosine kinase activity, and ending with the regulation of a downstream cellular process, e.g. transcription.
ureteric bud development	The process whose specific outcome is the progression of the ureteric bud over time, from its formation to the mature structure.
ventricular cardiac muscle tissue morphogenesis	The process in which the anatomical structures of cardiac ventricle muscle is generated and organized.
ventricular zone neuroblast division	The proliferation of neuroblasts in the ventricular zone of the cerebral cortex. The neuronal progenitors of these cells will migrate radially.
wound healing	The series of events that restore integrity to a damaged tissue, following an injury.

99 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P43481	KIT	Mast/stem cell growth factor receptor Kit	Bos taurus (Bovine)	SS
Q06805	TIE1	Tyrosine-protein kinase receptor Tie-1	Bos taurus (Bovine)	PR
Q06807	TEK	Angiopoietin-1 receptor	Bos taurus (Bovine)	SS
Q28889	KIT	Mast/stem cell growth factor receptor Kit	Felis catus (Cat) (Felis silvestris catus)	SS
P13369	CSF1R	Macrophage colony-stimulating factor 1 receptor	Felis catus (Cat) (Felis silvestris catus)	SS
P21804	FGFR1	Fibroblast growth factor receptor 1	Gallus gallus (Chicken)	SS
Q9PUF6	PDGFRA	Platelet-derived growth factor receptor alpha	Gallus gallus (Chicken)	SS
Q08156	KIT	Mast/stem cell growth factor receptor Kit	Gallus gallus (Chicken)	SS
Q8QHL3	FLT1	Vascular endothelial growth factor receptor 1	Gallus gallus (Chicken)	SS
P18460	FGFR3	Fibroblast growth factor receptor 3	Gallus gallus (Chicken)	SS
P18461	FGFR2	Fibroblast growth factor receptor 2	Gallus gallus (Chicken)	SS
Q07407	htl	Fibroblast growth factor receptor homolog 1	Drosophila melanogaster (Fruit fly)	PR
Q6J9G0	STYK1	Tyrosine-protein kinase STYK1	Homo sapiens (Human)	PR
P07949	RET	Proto-oncogene tyrosine-protein kinase receptor Ret	Homo sapiens (Human)	EV
O15146	MUSK	Muscle, skeletal receptor tyrosine-protein kinase	Homo sapiens (Human)	EV
Q01974	ROR2	Tyrosine-protein kinase transmembrane receptor ROR2	Homo sapiens (Human)	EV
Q01973	ROR1	Inactive tyrosine-protein kinase transmembrane receptor ROR1	Homo sapiens (Human)	PR
Q16832	DDR2	Discoidin domain-containing receptor 2	Homo sapiens (Human)	SS
Q08345	DDR1	Epithelial discoidin domain-containing receptor 1	Homo sapiens (Human)	EV
Q16620	NTRK2	BDNF/NT-3 growth factors receptor	Homo sapiens (Human)	EV
P04629	NTRK1	High affinity nerve growth factor receptor	Homo sapiens (Human)	EV
Q16288	NTRK3	NT-3 growth factor receptor	Homo sapiens (Human)	SS
P35916	FLT4	Vascular endothelial growth factor receptor 3	Homo sapiens (Human)	SS
P17948	FLT1	Vascular endothelial growth factor receptor 1	Homo sapiens (Human)	SS
P35968	KDR	Vascular endothelial growth factor receptor 2	Homo sapiens (Human)	EV
P29317	EPHA2	Ephrin type-A receptor 2	Homo sapiens (Human)	SS
P21709	EPHA1	Ephrin type-A receptor 1	Homo sapiens (Human)	SS
P54760	EPHB4	Ephrin type-B receptor 4	Homo sapiens (Human)	SS
P29376	LTK	Leukocyte tyrosine kinase receptor	Homo sapiens (Human)	SS
Q9UM73	ALK	ALK tyrosine kinase receptor	Homo sapiens (Human)	EV
P08922	ROS1	Proto-oncogene tyrosine-protein kinase ROS	Homo sapiens (Human)	SS
P14616	INSRR	Insulin receptor-related protein	Homo sapiens (Human)	SS
P08069	IGF1R	Insulin-like growth factor 1 receptor	Homo sapiens (Human)	EV
P06213	INSR	Insulin receptor	Homo sapiens (Human)	EV
P11362	FGFR1	Fibroblast growth factor receptor 1	Homo sapiens (Human)	EV
P22455	FGFR4	Fibroblast growth factor receptor 4	Homo sapiens (Human)	SS
P22607	FGFR3	Fibroblast growth factor receptor 3	Homo sapiens (Human)	EV
Q12866	MERTK	Tyrosine-protein kinase Mer	Homo sapiens (Human)	EV
Q04912	MST1R	Macrophage-stimulating protein receptor	Homo sapiens (Human)	EV
P30530	AXL	Tyrosine-protein kinase receptor UFO	Homo sapiens (Human)	PR
Q06418	TYRO3	Tyrosine-protein kinase receptor TYRO3	Homo sapiens (Human)	SS
P08581	MET	Hepatocyte growth factor receptor	Homo sapiens (Human)	EV
P04626	ERBB2	Receptor tyrosine-protein kinase erbB-2	Homo sapiens (Human)	SS
Q15303	ERBB4	Receptor tyrosine-protein kinase erbB-4	Homo sapiens (Human)	SS
P21860	ERBB3	Receptor tyrosine-protein kinase erbB-3	Homo sapiens (Human)	SS
P00533	EGFR	Epidermal growth factor receptor	Homo sapiens (Human)	EV
P34925	RYK	Tyrosine-protein kinase RYK	Homo sapiens (Human)	PR
Q02763	TEK	Angiopoietin-1 receptor	Homo sapiens (Human)	SS
P35590	TIE1	Tyrosine-protein kinase receptor Tie-1	Homo sapiens (Human)	PR
P10721	KIT	Mast/stem cell growth factor receptor Kit	Homo sapiens (Human)	EV
P09619	PDGFRB	Platelet-derived growth factor receptor beta	Homo sapiens (Human)	EV
P07333	CSF1R	Macrophage colony-stimulating factor 1 receptor	Homo sapiens (Human)	SS
P16234	PDGFRA	Platelet-derived growth factor receptor alpha	Homo sapiens (Human)	EV
P36888	FLT3	Receptor-type tyrosine-protein kinase FLT3	Homo sapiens (Human)	EV
Q03142	Fgfr4	Fibroblast growth factor receptor 4	Mus musculus (Mouse)	PR
P05532	Kit	Mast/stem cell growth factor receptor Kit	Mus musculus (Mouse)	PR
Q91V87	Fgfrl1	Fibroblast growth factor receptor-like 1	Mus musculus (Mouse)	PR
P35917	Flt4	Vascular endothelial growth factor receptor 3	Mus musculus (Mouse)	SS
P05622	Pdgfrb	Platelet-derived growth factor receptor beta	Mus musculus (Mouse)	SS
P09581	Csf1r	Macrophage colony-stimulating factor 1 receptor	Mus musculus (Mouse)	SS
P35969	Flt1	Vascular endothelial growth factor receptor 1	Mus musculus (Mouse)	SS
P35546	Ret	Proto-oncogene tyrosine-protein kinase receptor Ret	Mus musculus (Mouse)	SS
Q06806	Tie1	Tyrosine-protein kinase receptor Tie-1	Mus musculus (Mouse)	SS
Q00342	Flt3	Receptor-type tyrosine-protein kinase FLT3	Mus musculus (Mouse)	SS
Q6J9G1	Styk1	Tyrosine-protein kinase STYK1	Mus musculus (Mouse)	PR
Q61851	Fgfr3	Fibroblast growth factor receptor 3	Mus musculus (Mouse)	PR
Q02858	Tek	Angiopoietin-1 receptor	Mus musculus (Mouse)	SS
P35918	Kdr	Vascular endothelial growth factor receptor 2	Mus musculus (Mouse)	PR
P26618	Pdgfra	Platelet-derived growth factor receptor alpha	Mus musculus (Mouse)	SS
P16092	Fgfr1	Fibroblast growth factor receptor 1	Mus musculus (Mouse)	SS
P21803	Fgfr2	Fibroblast growth factor receptor 2	Mus musculus (Mouse)	SS
Q2HWD6	KIT	Mast/stem cell growth factor receptor Kit	Sus scrofa (Pig)	SS
Q7TQM3	Fgfrl1	Fibroblast growth factor receptor-like 1	Rattus norvegicus (Rat)	PR
P53767	Flt1	Vascular endothelial growth factor receptor 1	Rattus norvegicus (Rat)	PR
P20786	Pdgfra	Platelet-derived growth factor receptor alpha	Rattus norvegicus (Rat)	SS
Q91ZT1	Flt4	Vascular endothelial growth factor receptor 3	Rattus norvegicus (Rat)	SS
Q04589	Fgfr1	Fibroblast growth factor receptor 1	Rattus norvegicus (Rat)	SS
G3V9H8	Ret	Proto-oncogene tyrosine-protein kinase receptor Ret	Rattus norvegicus (Rat)	SS
Q05030	Pdgfrb	Platelet-derived growth factor receptor beta	Rattus norvegicus (Rat)	SS
O08775	Kdr	Vascular endothelial growth factor receptor 2	Rattus norvegicus (Rat)	SS
Q498D6	Fgfr4	Fibroblast growth factor receptor 4	Rattus norvegicus (Rat)	PR
Q17833	old-1	Tyrosine-protein kinase receptor old-1	Caenorhabditis elegans	PR
Q19238	F09A5.2	Putative tyrosine-protein kinase F09A5.2	Caenorhabditis elegans	SS
P34892	kin-16	Receptor-like tyrosine-protein kinase kin-16	Caenorhabditis elegans	PR
G5ED65	ver-1	Protein ver-1	Caenorhabditis elegans	PR
Q10656	egl-15	Myoblast growth factor receptor egl-15	Caenorhabditis elegans	PR
Q3E8W4	ANX2	Receptor-like protein kinase ANXUR2	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9SCZ4	FER	Receptor-like protein kinase FERONIA	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9FLW0	At5g24010	Probable receptor-like protein kinase At5g24010	Arabidopsis thaliana (Mouse-ear cress)	PR
Q8AXB3	kdrl	Vascular endothelial growth factor receptor kdr-like	Danio rerio (Zebrafish) (Brachydanio rerio)	SS
Q5GIT4	kdr	Vascular endothelial growth factor receptor 2	Danio rerio (Zebrafish) (Brachydanio rerio)	SS
O73791	tek	Angiopoietin-1 receptor	Danio rerio (Zebrafish) (Brachydanio rerio)	SS
Q9I8N6	csf1r	Macrophage colony-stimulating factor 1 receptor	Danio rerio (Zebrafish) (Brachydanio rerio)	SS
Q90413	fgfr4	Fibroblast growth factor receptor 4	Danio rerio (Zebrafish) (Brachydanio rerio)	SS
Q9DE49	pdgfra	Platelet-derived growth factor receptor alpha	Danio rerio (Zebrafish) (Brachydanio rerio)	SS
Q8JFR5	kita	Mast/stem cell growth factor receptor kita	Danio rerio (Zebrafish) (Brachydanio rerio)	SS
Q5MD89	flt4	Vascular endothelial growth factor receptor 3	Danio rerio (Zebrafish) (Brachydanio rerio)	SS
Q90Z00	fgfr1a	Fibroblast growth factor receptor 1-A	Danio rerio (Zebrafish) (Brachydanio rerio)	SS
Q8JG38	fgfr2	Fibroblast growth factor receptor 2	Danio rerio (Zebrafish) (Brachydanio rerio)	SS

10	20	30	40	50	60
MVSWGRFICL	VVVTMATLSL	ARPSFSLVED	TTLEPEEPPT	KYQISQPEVY	VAAPGESLEV
70	80	90	100	110	120
RCLLKDAAVI	SWTKDGVHLG	PNNRTVLIGE	YLQIKGATPR	DSGLYACTAS	RTVDSETWYF
130	140	150	160	170	180
MVNVTDAISS	GDDEDDTDGA	EDFVSENSNN	KRAPYWTNTE	KMEKRLHAVP	AANTVKFRCP
190	200	210	220	230	240
AGGNPMPTMR	WLKNGKEFKQ	EHRIGGYKVR	NQHWSLIMES	VVPSDKGNYT	CVVENEYGSI
250	260	270	280	290	300
NHTYHLDVVE	RSPHRPILQA	GLPANASTVV	GGDVEFVCKV	YSDAQPHIQW	IKHVEKNGSK
310	320	330	340	350	360
YGPDGLPYLK	VLKAAGVNTT	DKEIEVLYIR	NVTFEDAGEY	TCLAGNSIGI	SFHSAWLTVL
370	380	390	400	410	420
PAPGREKEIT	ASPDYLEIAI	YCIGVFLIAC	MVVTVILCRM	KNTTKKPDFS	SQPAVHKLTK
430	440	450	460	470	480
RIPLRRQVTV	SAESSSSMNS	NTPLVRITTR	LSSTADTPML	AGVSEYELPE	DPKWEFPRDK
490	500	510	520	530	540
LTLGKPLGEG	CFGQVVMAEA	VGIDKDKPKE	AVTVAVKMLK	DDATEKDLSD	LVSEMEMMKM
550	560	570	580	590	600
IGKHKNIINL	LGACTQDGPL	YVIVEYASKG	NLREYLRARR	PPGMEYSYDI	NRVPEEQMTF
610	620	630	640	650	660
KDLVSCTYQL	ARGMEYLASQ	KCIHRDLAAR	NVLVTENNVM	KIADFGLARD	INNIDYYKKT
670	680	690	700	710	720
TNGRLPVKWM	APEALFDRVY	THQSDVWSFG	VLMWEIFTLG	GSPYPGIPVE	ELFKLLKEGH
730	740	750	760	770	780
RMDKPANCTN	ELYMMMRDCW	HAVPSQRPTF	KQLVEDLDRI	LTLTTNEEYL	DLSQPLEQYS
790	800	810	820
PSYPDTRSSC	SSGDDSVFSP	DPMPYEPCLP	QYPHINGSVK	T