AiPD: Autoinhibited Protein Database

Q08174

Gene name	PCDH1
Protein name	Protocadherin-1
Names	Cadherin-like protein 1, Protocadherin-42, PC42
Species	Homo sapiens (Human)
KEGG Pathway	hsa:5097
EC number
Protein Class

Descriptions

The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.

Autoinhibitory domains (AIDs)

943-1014 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

943-1014 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

Yeon JH et al. (2016) "Systems-wide Identification of cis-Regulatory Elements in Proteins", Cell Systems, 2, 89-100

Autoinhibited structure

Activated structure

5 structures for Q08174

Entry ID	Method	Resolution	Chain	Position	Source
6BX7	X-ray	285 A	A	58-503	PDB
6MGA	X-ray	315 A	A	58-503	PDB
6PIM	X-ray	305 A	A	271-503	PDB
6VFP	X-ray	320 A	A	58-498	PDB
AF-Q08174-F1	Predicted				AlphaFoldDB

712 variants for Q08174

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA128462672 rs949510255	3	S>C		No	ClinGen TOPMed
rs949510255 CA361560594	3	S>G		No	ClinGen TOPMed
rs918064256 CA128462671	3	S>N		No	ClinGen TOPMed gnomAD
rs1186391091 CA361560582	3	S>R		No	ClinGen gnomAD
CA128462669 rs866633155	4	G>R		No	ClinGen TOPMed gnomAD
CA361560547 rs935525135	5	A>E		No	ClinGen TOPMed gnomAD
rs935525135 CA128462660	5	A>V		No	ClinGen TOPMed gnomAD
rs1426102538 CA361560545	6	G>S		No	ClinGen gnomAD
rs925525770 CA128462650	8	R>P		No	ClinGen TOPMed gnomAD
rs925525770 CA361560476	8	R>Q		No	ClinGen TOPMed gnomAD
rs1198472659 CA361560497	8	R>W		No	ClinGen TOPMed
CA361560467 rs1476981956	9	R>C		No	ClinGen TOPMed gnomAD
rs1265340755 CA361560458	9	R>L		No	ClinGen gnomAD
rs1265340755 CA361560460	9	R>P		No	ClinGen gnomAD
CA361560474 rs1476981956	9	R>S		No	ClinGen TOPMed gnomAD
CA361560409 rs1217451982	11	P>L		No	ClinGen TOPMed gnomAD
rs12517385 CA3483302 VAR_047530 RCV000960031	15	L>F		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA361556464 rs1414429414	16	L>P		No	ClinGen TOPMed
CA128456067 rs1051354980	22	R>K		No	ClinGen gnomAD
rs764095502 CA3483300	23	M>R		No	ClinGen ExAC gnomAD
rs1269103852 CA361556335	24	E>D		No	ClinGen TOPMed gnomAD
rs760704687 CA3483299	24	E>K		No	ClinGen ExAC TOPMed gnomAD
CA3483297 VAR_047531 rs12515587	25	H>P		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
COSM1063570 rs776015302 CA3483298	25	H>Y	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA128456046 rs890538436	26	L>V		No	ClinGen TOPMed
rs1238524885 CA361556291	27	R>K		No	ClinGen gnomAD
rs774571014 CA3483295	27	R>S		No	ClinGen ExAC gnomAD
CA361556250 rs1310438429	29	S>N		No	ClinGen gnomAD
CA361556211 rs1233068335	31	G>D		No	ClinGen gnomAD
rs1329535000 CA361556190	32	P>H		No	ClinGen gnomAD
CA361556197 rs1339786561	32	P>S		No	ClinGen TOPMed
rs1325830630 CA361556177	33	G>E		No	ClinGen gnomAD
rs771256072 CA361556158	34	G>E		No	ClinGen ExAC gnomAD
rs771256072 CA3483294	34	G>V		No	ClinGen ExAC gnomAD
rs538908747 CA3483291	36	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs538908747 COSM267110 CA3483290	36	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA3483292 rs772869932	36	R>W		No	ClinGen ExAC TOPMed gnomAD
CA361556096 rs768705093	38	L>M		No	ClinGen ExAC gnomAD
rs1285627249 CA361556008 COSM3947082 COSM3947081	42	M>I	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1489555713 CA361556022	42	M>K		No	ClinGen gnomAD
CA3483284 rs199652228	42	M>L		No	ClinGen ExAC gnomAD
CA361556026 rs199652228	42	M>V		No	ClinGen ExAC gnomAD
rs778024037 CA3483283	45	A>V		No	ClinGen ExAC gnomAD
rs1234146638 CA361555913	49	L>P		No	ClinGen gnomAD
rs967649120 CA128455979	50	L>P		No	ClinGen Ensembl
rs768075458 CA3483280	51	A>T		No	ClinGen ExAC gnomAD
rs1333375963 CA361555867	52	P>S		No	ClinGen gnomAD
CA3483277 rs766673155	54	P>L		No	ClinGen ExAC gnomAD
rs368405112 CA3483278	54	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs374330580 CA3483275	57	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA361555758 rs1171340681	58	T>I		No	ClinGen TOPMed
CA361555741 rs1477892049	59	R>L		No	ClinGen TOPMed gnomAD
CA361555745 rs1477892049	59	R>Q		No	ClinGen TOPMed gnomAD
CA3483274 rs769551793	59	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs761471094 CA361555720	61	V>L		No	ClinGen ExAC TOPMed gnomAD
CA3483273 rs761471094	61	V>M		No	ClinGen ExAC TOPMed gnomAD
CA3483272 rs148187969	63	K>E		No	ClinGen 1000Genomes ExAC gnomAD
CA361555674 rs1358907117	64	V>M		No	ClinGen TOPMed
CA3483270 rs201187483	65	P>L		No	ClinGen 1000Genomes ESP ExAC gnomAD
CA3483271 rs768214938	65	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1283682034 CA361555579	70	P>H		No	ClinGen gnomAD
CA361555581 rs1341170189	70	P>S		No	ClinGen gnomAD
rs1452477326 CA361555569	71	N>D		No	ClinGen gnomAD
CA3483266 rs778027039	74	I>T		No	ClinGen ExAC TOPMed gnomAD
CA128455900 rs139286727	76	S>R		No	ClinGen ESP
CA3483263 COSM1063569 rs781258463	78	A>T	Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA361555402 rs1172307716	79	A>T		No	ClinGen gnomAD
CA3483260 rs766880384	80	D>E		No	ClinGen ExAC gnomAD
rs752035623 CA3483261	80	D>N		No	ClinGen ExAC gnomAD
CA3483258 rs750790709	81	Y>H		No	ClinGen ExAC gnomAD
CA3483259 rs750790709	81	Y>N		No	ClinGen ExAC gnomAD
CA128455835 rs267600463	82	G>D		No	ClinGen Ensembl
TCGA novel	89	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1289225888 CA361554929	94	V>M		No	ClinGen gnomAD
CA3483251 rs772030845	97	P>L		No	ClinGen ExAC TOPMed gnomAD
CA3483249 rs774136762	99	L>P		No	ClinGen ExAC gnomAD
rs770651861 CA3483248	100	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs748389102 CA3483247	100	R>H		No	ClinGen ExAC TOPMed gnomAD
CA3483245 rs755054912	101	V>M		No	ClinGen ExAC gnomAD
CA128455761 rs865856848	102	D>N		No	ClinGen Ensembl
CA3483244 rs747093176	102	D>V		No	ClinGen ExAC gnomAD
rs1164720248 CA361554609	107	D>N		No	ClinGen gnomAD
CA3483241 rs377111127	108	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs147663164 CA3483240	111	T>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA3483237 rs763814674	112	E>K		No	ClinGen ExAC gnomAD
CA3483236 rs760160399	115	I>M		No	ClinGen ExAC gnomAD
rs1219442685 CA361554370	115	I>V		No	ClinGen TOPMed gnomAD
CA3483235 rs775060779	116	D>N		No	ClinGen ExAC TOPMed
CA361554310 rs1288264074	117	R>C		No	ClinGen TOPMed gnomAD
rs372303891 CA3483234	117	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs1753000062 RCV001172297	118	E>G		No	ClinVar dbSNP
rs1351434822 CA361554246 CA361554257	119	G>R		No	ClinGen TOPMed gnomAD
CA361554205 rs1311161507	120	L>F		No	ClinGen gnomAD
CA361554208 rs1311161507	120	L>V		No	ClinGen gnomAD
rs1366429431 CA361554180	121	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
COSM1496014 rs145360303 CA3483232	121	R>H	kidney Variant assessed as Somatic; 4.62e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA3483233 rs145360303	121	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3483230 rs749049237	123	C>Y		No	ClinGen ExAC gnomAD
CA3483227 rs747128533	124	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs776890162 CA3483229	124	Q>K		No	ClinGen ExAC gnomAD
CA3483228 rs768912565	124	Q>L		No	ClinGen ExAC gnomAD
CA361553978 rs148895524	126	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA361554028 rs1235954983	126	Q>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA361553934 rs1318028619	127	L>H		No	ClinGen gnomAD
CA361553883 rs1208469667	129	G>V		No	ClinGen TOPMed
CA361553855 rs1275471871	130	D>E		No	ClinGen TOPMed
rs1030802549 CA128455659	133	I>F		No	ClinGen TOPMed gnomAD
CA361553774 rs1030802549	133	I>L		No	ClinGen TOPMed gnomAD
rs779523893 CA3483223	135	E>K		No	ClinGen ExAC gnomAD
CA361553480 rs1311344483	142	D>E		No	ClinGen gnomAD
CA3483221 rs754240502	144	V>A		No	ClinGen ExAC gnomAD
rs897927557 CA128455625	144	V>M		No	ClinGen TOPMed gnomAD
CA361553299 rs1277017324	147	G>V		No	ClinGen gnomAD
CA3483220 rs763718911	148	S>I		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	150	R>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3483217 rs767072400	150	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs752233787 CA3483218	150	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1392672028 CA361553081	156	I>T		No	ClinGen TOPMed
CA361553088 rs1394231881	156	I>V		No	ClinGen TOPMed
CA361553044 rs1596559691	158	V>G		No	ClinGen Ensembl
CA361553016 rs1416366852	159	Q>R		No	ClinGen gnomAD
TCGA novel	160	D>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs766283966 CA3483214	161	I>F		No	ClinGen ExAC gnomAD
TCGA novel	162	N>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA361552811 rs1265455382	166	P>H		No	ClinGen gnomAD
CA128455570 rs894727536	166	P>S		No	ClinGen TOPMed
rs1482893996 CA361552775	167	N>T		No	ClinGen gnomAD
CA3483210 rs760965789	169	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA3483209 rs201001001	170	S>P		No	ClinGen ExAC TOPMed gnomAD
CA361552647 rs1256778707	171	P>L		No	ClinGen TOPMed
CA3483207 rs745913835	173	I>V		No	ClinGen ExAC TOPMed gnomAD
CA361552566 rs1295684439	175	L>V		No	ClinGen gnomAD
CA361552546 rs1383208095	176	A>T		No	ClinGen gnomAD
rs779619811 CA3483206	177	I>V		No	ClinGen ExAC gnomAD
CA3483203 COSM136504 rs778212309	184	G>S	skin [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA361552129 rs1418842775	188	P>S		No	ClinGen TOPMed
rs752422297 CA3483201	190	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA128455519 rs938315730	190	P>S		No	ClinGen TOPMed gnomAD
rs1461566411 CA361552006	193	S>L		No	ClinGen gnomAD
CA3483200 rs149707808	195	R>C		No	ClinGen ESP ExAC gnomAD
rs754529774 CA3483199	195	R>H		No	ClinGen ExAC TOPMed gnomAD
CA3483197 rs565031164	198	G>V		No	ClinGen 1000Genomes ExAC gnomAD
CA3483196 rs762885803	199	P>A		No	ClinGen ExAC gnomAD
rs566915735 COSM72084 CA128455477	201	G>S	ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs761475844 CA3483193	203	A>G		No	ClinGen ExAC gnomAD
CA128455464 rs939034002	206	E>D		No	ClinGen TOPMed gnomAD
rs1398992285 CA361551390	208	Q>R		No	ClinGen gnomAD
rs772164876 CA3483191	209	A>P		No	ClinGen ExAC gnomAD
rs1276665724 CA361551341	209	A>V		No	ClinGen TOPMed
CA361551319 rs1457514528	210	G>R		No	ClinGen gnomAD
TCGA novel	211	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1343040250 CA361551250	212	E>K		No	ClinGen TOPMed
CA361551254 rs1343040250	212	E>Q		No	ClinGen TOPMed
CA361551172 rs1165354449	214	Q>R		No	ClinGen gnomAD
TCGA novel	215	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA128455440 rs927679290	215	E>K		No	ClinGen TOPMed gnomAD
CA3483189 rs774575563	218	G>R		No	ClinGen ExAC gnomAD
rs1250842305 CA361550869	224	D>N		No	ClinGen gnomAD
CA361550822 rs1345920090	225	Q>E		No	ClinGen gnomAD
CA361550771 rs1488066254	226	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA128455397 rs970595996	227	E>G		No	ClinGen Ensembl
rs749835318 CA3483187	229	Q>K		No	ClinGen ExAC
rs770231746 CA3483185	231	Q>H		No	ClinGen ExAC
CA361550548 rs1225616088	232	L>V		No	ClinGen TOPMed gnomAD
rs762101067 CA361550511	233	I>F		No	ClinGen gnomAD
CA361550505 rs1360809107	233	I>T		No	ClinGen gnomAD
rs762101067 CA128455343	233	I>V		No	ClinGen gnomAD
CA361550436 rs1343008247	235	M>T		No	ClinGen gnomAD
CA361550363 rs989994247	237	N>I		No	ClinGen TOPMed
CA128455336 rs989994247	237	N>T		No	ClinGen TOPMed
rs748436639 CA3483184	238	L>M		No	ClinGen ExAC TOPMed gnomAD
CA3483183 rs775181487	240	R>C		No	ClinGen ExAC TOPMed gnomAD
CA3483182 rs199716237	240	R>H		No	ClinGen 1000Genomes ExAC gnomAD
rs1174950089 CA361550281	241	E>D		No	ClinGen TOPMed
rs1374352025 CA361550259	242	R>C		No	ClinGen gnomAD
CA3483181 rs144034716	242	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA361550235 rs1388590176	243	W>R		No	ClinGen gnomAD
rs962934701 CA128455307	246	Y>C		No	ClinGen gnomAD
TCGA novel	246	Y>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs757855778 CA3483179	250	I>V		No	ClinGen ExAC gnomAD
rs765058335 CA3483177	252	V>A		No	ClinGen ExAC TOPMed gnomAD
rs757127230 CA3483176	253	Q>R		No	ClinGen ExAC gnomAD
CA3483172 rs774661465	259	P>S		No	ClinGen ExAC gnomAD
rs762909406 CA3483170	260	R>C		No	ClinGen ExAC TOPMed gnomAD
rs762909406 CA3483169	260	R>G		No	ClinGen ExAC TOPMed gnomAD
rs773816282 CA3483168	260	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA361549444 rs1232738741	261	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA3483166 rs748615391	263	S>G		No	ClinGen ExAC TOPMed gnomAD
rs1285262238 CA361549370	264	A>T		No	ClinGen gnomAD
rs776866031 CA3483165	266	L>M		No	ClinGen ExAC TOPMed gnomAD
rs746686590 CA3483163	267	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA361549299 rs746686590	267	R>L		No	ClinGen ExAC TOPMed gnomAD
rs139217153 CA3483164	267	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1402405327 CA361549281	268	V>I		No	ClinGen gnomAD
TCGA novel	270	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs757947766 CA3483161	271	L>V		No	ClinGen ExAC TOPMed gnomAD
CA361549183 rs1395184298	273	T>A		No	ClinGen TOPMed
rs962143646 CA128455219	273	T>S		No	ClinGen TOPMed gnomAD
CA361549058 rs1477182496	277	A>G		No	ClinGen gnomAD
CA3483159 rs201502657	277	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	279	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs747135149 CA3483157	282	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
COSM449015 rs201168116 CA3483158	282	R>W	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1449250053 CA361548828	284	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs751869800 CA3483154	288	E>G		No	ClinGen ExAC gnomAD
rs377292989 CA3483155 COSM1219421	288	E>K	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA3483153 rs766686322	292	N>K		No	ClinGen ExAC TOPMed gnomAD
CA128455172 rs148156227	296	G>S		No	ClinGen ESP TOPMed
rs1317328857 CA361548349	297	H>Y		No	ClinGen gnomAD
rs763149474 CA3483152	298	S>L		No	ClinGen ExAC gnomAD
rs765296106 CA3483150	299	V>I		No	ClinGen ExAC gnomAD
TCGA novel	301	Q>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs200438003 CA3483103	302	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs767800428 CA3483101	312	N>S		No	ClinGen ExAC gnomAD
CA3483100 rs759910038	314	E>A		No	ClinGen ExAC gnomAD
rs916675413 CA128497376	316	E>A		No	ClinGen TOPMed gnomAD
CA3483098 rs770603781	316	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs748120372 CA3483094	320	H>P		No	ClinGen ExAC TOPMed gnomAD
CA3483091 rs746802325	321	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA3483092 rs531215232	321	Q>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA361538891 rs1224999034	322	A>T		No	ClinGen gnomAD
rs374705686 CA3483090	322	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA128497354 rs542198883	324	E>D		No	ClinGen 1000Genomes TOPMed gnomAD
COSM1310794 rs749448423 CA3483088	324	E>K	Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs777850372 CA3483087	325	V>G		No	ClinGen ExAC TOPMed gnomAD
CA3483085 rs753240380	327	R>S		No	ClinGen ExAC TOPMed gnomAD
COSM1310793 CA128497341 rs149443924	328	R>H	Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP NCI-TCGA TOPMed gnomAD
rs768041893 CA3483084	329	L>P		No	ClinGen ExAC TOPMed gnomAD
CA3483083 rs755355364	331	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs201976134 CA3483082	333	D>E		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	333	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA361538667 rs1404410049	334	R>M		No	ClinGen TOPMed
rs1321161297 CA361538661	334	R>S		No	ClinGen TOPMed
rs1186865999 CA361538645	335	N>S		No	ClinGen gnomAD
CA3483081 rs766585212	336	T>N		No	ClinGen ExAC TOPMed gnomAD
rs772953751 CA3483079	339	I>T		No	ClinGen ExAC TOPMed gnomAD
CA361538546 rs1308012696	341	V>A		No	ClinGen TOPMed
rs764871569 CA3483078	343	G>S		No	ClinGen ExAC gnomAD
rs761376607 CA3483077	343	G>V		No	ClinGen ExAC gnomAD
rs776485009 CA3483076	344	P>L		No	ClinGen ExAC TOPMed gnomAD
CA361538474 rs1382412522	345	V>E		No	ClinGen gnomAD
rs1215705853 CA361538489	345	V>M		No	ClinGen gnomAD
CA361538467 rs1454772219	346	D>N		No	ClinGen gnomAD
CA3483073 rs775363715	347	R>C		No	ClinGen ExAC gnomAD
CA361538441 rs1297652207	347	R>H		No	ClinGen TOPMed gnomAD
CA3483072 rs146837198	349	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA3483070 rs777936720	354	R>H		No	ClinGen ExAC TOPMed gnomAD
rs756231603 CA3483069	356	S>P		No	ClinGen ExAC gnomAD
rs1007607799 CA128497303	357	V>M		No	ClinGen TOPMed
rs1185262590 CA361538227	359	A>T		No	ClinGen gnomAD
CA3483068 rs748245558	362	R>*		No	ClinGen ExAC gnomAD
CA3483067 rs200086291	362	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3483066 rs755512304	363	G>S		No	ClinGen ExAC TOPMed gnomAD
CA3483065 rs751951852	364	T>I		No	ClinGen ExAC TOPMed gnomAD
CA3483064 rs766790322	365	N>D		No	ClinGen ExAC gnomAD
CA3483063 rs758798134	365	N>S		No	ClinGen ExAC gnomAD
CA3483062 rs545864832	366	P>S		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	367	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs142395032 CA3483060	368	S>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA3483061 rs142395032	368	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs138410646 CA3483059	369	A>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA3483058 rs763448022	370	R>H		No	ClinGen ExAC TOPMed gnomAD
rs775247517 CA3483056	373	V>M		No	ClinGen ExAC gnomAD
CA3483055 rs771892465	376	T>I		No	ClinGen ExAC
rs200925077 CA3483054	377	V>M		No	ClinGen 1000Genomes ExAC gnomAD
rs1363678924 CA361537854	378	K>N		No	ClinGen gnomAD
rs773477285 CA3483053	380	M>K		No	ClinGen ExAC gnomAD
CA128497257 rs1020639043	380	M>V		No	ClinGen Ensembl
rs1179147053 CA361537722	384	A>D		No	ClinGen gnomAD
CA128497246 rs868856320	386	T>I		No	ClinGen Ensembl
rs1420520480 CA361537609	390	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1339988813 CA361537325	401	M>K		No	ClinGen TOPMed
CA3483048 rs768567800	404	I>T		No	ClinGen ExAC gnomAD
TCGA novel	407	D>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs780677775 CA3483046	407	D>G		No	ClinGen ExAC gnomAD
CA361537111 rs1360479113	409	A>S		No	ClinGen TOPMed
CA128497226 rs543378456	411	E>K		No	ClinGen 1000Genomes
rs1307753997 CA361537001	412	T>R		No	ClinGen gnomAD
rs1561483546 CA361536944	414	V>L		No	ClinGen Ensembl
TCGA novel	422	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3483044 rs750808211	422	R>Q		No	ClinGen ExAC gnomAD
rs778778968 CA3483043	425	G>V		No	ClinGen ExAC
CA361536561 rs1383902196	427	N>D		No	ClinGen gnomAD
CA3483041 rs753376722	427	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1055500662 CA128497207	436	G>D		No	ClinGen Ensembl
CA361536364 rs1175061290	436	G>S		No	ClinGen gnomAD
rs1270453151 CA361536278	438	V>M		No	ClinGen gnomAD
rs752725093 CA3483038	440	F>Y		No	ClinGen ExAC gnomAD
CA128497199 rs374295073	441	Q>L		No	ClinGen ESP
rs1441383396 CA361536148	443	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA3483037 rs767425135	443	R>H		No	ClinGen ExAC TOPMed gnomAD
CA361536131 rs1441383396	443	R>S		No	ClinGen TOPMed
rs759392558 CA3483036	444	Q>E		No	ClinGen ExAC gnomAD
CA361536098 rs1353081948	444	Q>P		No	ClinGen gnomAD
CA361536059 rs1261480104	446	S>R		No	ClinGen gnomAD
CA3483035 rs774136837	447	E>D		No	ClinGen ExAC TOPMed gnomAD
rs1223161926 CA361536032	447	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
TCGA novel	449	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA361535973 rs1285292298	449	G>S		No	ClinGen gnomAD
TCGA novel	453	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs751752911	455	K>missing	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs1554071750 CA361535634	461	T>A		No	ClinGen Ensembl
CA3483032 rs762116965	462	T>A		No	ClinGen ExAC gnomAD
CA3483031 rs202081544	463	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA128497183 rs202081544	463	P>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1402149004 CA361535514	467	E>G		No	ClinGen TOPMed
CA361535520 rs1355495742	467	E>K		No	ClinGen gnomAD
CA3483027 rs772706127	471	D>G		No	ClinGen ExAC TOPMed gnomAD
CA3483028 rs780765653	471	D>N		No	ClinGen ExAC TOPMed gnomAD
rs746315371 CA3483026	473	T>N		No	ClinGen ExAC gnomAD
rs948079727 CA128497163	474	I>T		No	ClinGen TOPMed
CA361535256 rs1309513245	477	V>E		No	ClinGen TOPMed gnomAD
rs1191688586 CA361535239	478	A>V		No	ClinGen gnomAD
rs200446806 CA3483024	479	V>G		No	ClinGen ExAC gnomAD
rs1449056306 CA361535230	479	V>M		No	ClinGen gnomAD
CA3483023 rs201207549	480	D>G		No	ClinGen ExAC gnomAD
CA128497158 rs919496148	484	P>T		No	ClinGen Ensembl
CA361535040 rs752195982	485	P>L		No	ClinGen ExAC gnomAD
CA3483020 rs752195982	485	P>R		No	ClinGen ExAC gnomAD
CA361535016 rs1229563159	487	S>F		No	ClinGen gnomAD
rs759482639 CA3483018	489	T>S		No	ClinGen ExAC gnomAD
TCGA novel	491	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1314183592 CA361534854	493	K>T		No	ClinGen gnomAD
rs762626597 CA3483015	499	V>I		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	500	N>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3483013 rs188129691	503	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3483011 rs775720563	509	S>T		No	ClinGen ExAC gnomAD
CA3483010 rs772223335	511	T>S		No	ClinGen ExAC gnomAD
CA3483009 rs746403208	512	E>*		No	ClinGen ExAC gnomAD
CA3483007 rs376948396	513	V>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA3483006 rs749598726	513	V>G		No	ClinGen ExAC gnomAD
CA3483004 rs3822357 VAR_047532	514	A>T		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs141151266 CA3483002	516	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA361534196 rs1407010842	518	N>D		No	ClinGen TOPMed
rs1456746969 CA361534113	519	N>K		No	ClinGen TOPMed
CA3482999 rs372512626	521	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA361534064 rs372512626	521	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs758272223 CA3482998	522	G>C		No	ClinGen ExAC gnomAD
rs370013653 CA3482997	522	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA361534025 rs1382947569	523	E>Q		No	ClinGen TOPMed
CA3482996 rs765020059	524	V>M		No	ClinGen ExAC TOPMed gnomAD
CA3482995 rs760996352	526	A>V		No	ClinGen ExAC TOPMed gnomAD
CA361533925 rs1596554040	527	E>D		No	ClinGen Ensembl
CA361533922 rs1412129736	528	I>V		No	ClinGen TOPMed gnomAD
rs1285087270 CA361533861	530	A>T		No	ClinGen TOPMed
rs1485831613 CA361533850	531	S>R		No	ClinGen gnomAD
rs775808473 CA3482994	535	S>F		No	ClinGen ExAC gnomAD
rs1019096782 CA128497083	536	G>D		No	ClinGen TOPMed
CA128497064 rs950488966	539	A>V		No	ClinGen TOPMed gnomAD
CA3482991 rs775053672	546	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs749733959 CA3482989	547	P>L		No	ClinGen ExAC gnomAD
CA3482990 rs771333291	547	P>S		No	ClinGen ExAC gnomAD
CA3482988 rs199843770	548	E>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1268035534 CA361533415	548	E>K		No	ClinGen gnomAD
rs770146209 CA3482987	549	P>L		No	ClinGen ExAC TOPMed gnomAD
CA3482984 rs571086743	550	A>D		No	ClinGen 1000Genomes ExAC gnomAD
CA128497041 rs748147367	550	A>T		No	ClinGen Ensembl
CA3482982 rs780108305	551	A>G		No	ClinGen ExAC TOPMed gnomAD
rs1596553886 CA361533153	552	K>Q		No	ClinGen Ensembl
CA361533131 rs1344350723	553	G>S		No	ClinGen gnomAD
rs551152667 CA361533053	557	I>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA361532993 rs1340387467	560	E>D		No	ClinGen Ensembl
rs564250121 CA3482978	560	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1596553845 CA361532948	563	E>G		No	ClinGen Ensembl
CA3482975 rs759753996	567	K>N		No	ClinGen ExAC gnomAD
CA3482976 rs767834901	567	K>R		No	ClinGen ExAC gnomAD
rs1160536619 CA361532818	569	S>P		No	ClinGen TOPMed gnomAD
rs1160536619 CA361532821	569	S>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA361532754 rs1214861592	572	R>Q		No	ClinGen gnomAD
CA361532760 COSM3927465 COSM3927464 rs1247058638	572	R>W	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated gnomAD
CA3482971 rs773728323	575	R>Q		No	ClinGen ExAC gnomAD
COSM1063564 rs374252625 CA3482972	575	R>W	endometrium [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA3482970 rs369563536	576	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA361532660 rs762144264	578	Y>C		No	ClinGen ExAC gnomAD
CA3482969 rs762144264	578	Y>F		No	ClinGen ExAC gnomAD
rs146216055 CA128496967	578	Y>H		No	ClinGen ESP TOPMed
rs768295979 CA3482967	579	E>K		No	ClinGen ExAC gnomAD
TCGA novel	580	L>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3482966 rs746598806	581	K>Q		No	ClinGen ExAC gnomAD
CA361532555 rs1457974526	584	A>T		No	ClinGen gnomAD
CA128496949 rs939424475	585	A>T		No	ClinGen TOPMed
CA361532520 rs1596553635	586	D>A		No	ClinGen Ensembl
CA128496943 rs781180397	586	D>E		No	ClinGen TOPMed
CA3482962 rs778882581	587	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA3482963 rs369187210	587	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA361532446 rs1481361209	590	P>L		No	ClinGen gnomAD
rs1596553582 CA361532391	593	Q>H		No	ClinGen Ensembl
CA361532397 rs1561482597	593	Q>R		No	ClinGen Ensembl
CA361532378 rs1596553574	594	G>A		No	ClinGen Ensembl
CA361532387 rs1165247240	594	G>C		No	ClinGen TOPMed
CA361532368 rs1365903551	595	T>I		No	ClinGen TOPMed
CA3482961 rs201115293	595	T>P		No	ClinGen ExAC gnomAD
rs1474282875 CA361532344	597	T>A		No	ClinGen gnomAD
CA361532340 rs777641492	597	T>I		No	ClinGen ExAC gnomAD
rs777641492 CA3482959	597	T>N		No	ClinGen ExAC gnomAD
rs568746284 CA3482958	598	V>I		No	ClinGen 1000Genomes ExAC gnomAD
rs751754625 CA3482957	600	V>L		No	ClinGen ExAC TOPMed gnomAD
RCV000956317 CA3482956 rs149703720	601	N>K		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA361532147 rs1312287067	609	D>N		No	ClinGen TOPMed gnomAD
CA3482955 rs763057781	613	M>I		No	ClinGen ExAC gnomAD
CA361532059 rs1360236382	614	L>M		No	ClinGen gnomAD
rs1436079322 CA361532039	615	S>N		No	ClinGen gnomAD
CA3482953 rs765720757	617	Y>*		No	ClinGen ExAC gnomAD
rs762232227 CA3482952	618	N>K		No	ClinGen ExAC gnomAD
rs1359853732 CA361531964	619	F>L		No	ClinGen gnomAD
CA361531953 rs1169579393	620	S>*		No	ClinGen gnomAD
rs776986291 CA3482951	622	M>I		No	ClinGen ExAC TOPMed gnomAD
CA361531937 rs1313670126	622	M>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs946908585 CA128496886	625	M>V		No	ClinGen TOPMed
CA361531841 rs1421371597	627	A>G		No	ClinGen TOPMed gnomAD
CA361531817 rs1189052176	629	S>N		No	ClinGen gnomAD
rs768952816 CA3482950	631	V>L		No	ClinGen ExAC gnomAD
rs986064955 CA128496870	633	M>I		No	ClinGen Ensembl
CA361531747 rs1185084345	633	M>T		No	ClinGen gnomAD
TCGA novel	640	D>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs528488308 CA3482949	643	E>D		No	ClinGen 1000Genomes ExAC gnomAD
rs1306334699 CA361531487	647	V>M		No	ClinGen TOPMed gnomAD
rs371172915 CA3482947	648	Q>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs368667075 CA3482946	648	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs371172915 CA3482948	648	Q>K		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	650	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA361531388 rs1382529880	651	V>A		No	ClinGen gnomAD
CA361529698 rs374516458	655	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA128496836 rs975050732 COSM1329012	655	N>S	ovary [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA3482943 rs749177426	656	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1297740064 CA361529672	657	D>E		No	ClinGen gnomAD
CA361529650 rs777731416	659	V>F		No	ClinGen ExAC TOPMed gnomAD
rs777731416 CA3482942	659	V>I		No	ClinGen ExAC TOPMed gnomAD
rs755930699 CA3482941	660	I>V		No	ClinGen ExAC gnomAD
rs1409120781 CA361529570	665	G>D		No	ClinGen TOPMed
CA361529567 rs1596553238	666	T>P		No	ClinGen Ensembl
rs765235910 CA3482936	675	R>Q		No	ClinGen ExAC gnomAD
rs762322217 CA3482935	678	Q>H		No	ClinGen ExAC gnomAD
rs1462394561 CA361529375	678	Q>P		No	ClinGen TOPMed
rs950435382 CA128496781	679	S>R		No	ClinGen TOPMed
rs1454298665 CA361529331	680	T>I		No	ClinGen TOPMed
rs1454298665 CA361529334	680	T>S		No	ClinGen TOPMed
rs1359091179 CA361529340	680	T>S		No	ClinGen gnomAD
rs1596553142 CA361529310	682	T>P		No	ClinGen Ensembl
CA3482933 rs764476383	685	L>M		No	ClinGen ExAC gnomAD
rs919006816 CA128496771	689	D>N		No	ClinGen TOPMed gnomAD
rs1317035429 CA361529171	690	G>A		No	ClinGen TOPMed gnomAD
rs1317035429 CA361529168	690	G>V		No	ClinGen TOPMed gnomAD
CA3482928 rs774008852	692	V>I		No	ClinGen ExAC TOPMed gnomAD
CA361529110 rs1308486720	693	P>L		No	ClinGen gnomAD
rs182658984 CA128496762	694	P>S		No	ClinGen 1000Genomes
rs1404271979 CA361529061	696	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA3482927 rs770514302	697	A>T		No	ClinGen ExAC gnomAD
CA3482924 rs769526137	699	V>A		No	ClinGen ExAC gnomAD
CA3482925 rs773252160	699	V>I		No	ClinGen ExAC TOPMed gnomAD
rs960214021 CA128496738	700	G>D		No	ClinGen TOPMed gnomAD
TCGA novel	707	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM3765173 rs1184593221 CA361528900 COSM3765172	708	E>K	Variant assessed as Somatic; impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA3482919 rs34636888	712	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs781575679 CA3482918	714	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs781575679 CA128496704	714	Y>F		No	ClinGen ExAC TOPMed gnomAD
rs754386102 CA361528777	715	I>L		No	ClinGen ExAC TOPMed gnomAD
rs1428140223 CA361528765	715	I>M		No	ClinGen TOPMed
CA3482917 rs754386102	715	I>V		No	ClinGen ExAC TOPMed gnomAD
CA361528724 rs1291017286	719	S>F		No	ClinGen TOPMed
CA361528699 rs1596552916	721	T>P		No	ClinGen Ensembl
CA361528684 rs1363081010	722	S>P		No	ClinGen TOPMed
rs764566345 CA3482916	727	T>N		No	ClinGen ExAC
CA361528618 rs1596552892	727	T>P		No	ClinGen Ensembl
CA3482915 rs756498798	728	P>S		No	ClinGen ExAC gnomAD
rs753105427 CA3482914 COSM1063562	731	R>C	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA3482913 rs200161054	731	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1561481859 CA361528542	733	G>R		No	ClinGen Ensembl
rs62381424 CA128496672 CA361528512	734	E>D		No	ClinGen gnomAD
rs370805685 CA3482912	735	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	735	T>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA361528487 rs1175171734	736	V>A		No	ClinGen gnomAD
CA3482911 rs774104916	739	V>M		No	ClinGen ExAC gnomAD
rs1201677468 CA361528449	740	A>E		No	ClinGen gnomAD
rs1376484608 CA361528454	740	A>T		No	ClinGen gnomAD
rs1201677468 CA361528445	740	A>V	Variant assessed as Somatic; 4.637e-05 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA3482909 rs762529547	742	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
TCGA novel	743	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs773340601 CA3482908	746	S>T		No	ClinGen ExAC gnomAD
rs1257878937 CA361528324	749	N>S		No	ClinGen gnomAD
CA3482906 rs747968827	751	E>K		No	ClinGen ExAC TOPMed gnomAD
CA361528258 rs1427142796	753	I>M		No	ClinGen TOPMed
rs1457006328 CA361528229	755	S>G		No	ClinGen gnomAD
CA361528206 rs1481354804	756	I>F		No	ClinGen TOPMed
CA3482905 rs776501623	757	A>E		No	ClinGen ExAC gnomAD
CA128496636 rs189765898	758	G>V		No	ClinGen 1000Genomes
rs1233889792 CA361528134	759	G>V		No	ClinGen gnomAD
rs1406539585 CA361528085	761	P>L		No	ClinGen TOPMed
CA361528072 rs1436825094	762	Y>C		No	ClinGen gnomAD
CA3482903 rs746122597	762	Y>H		No	ClinGen ExAC TOPMed gnomAD
CA3482901 rs757381163	768	G>E		No	ClinGen ExAC TOPMed gnomAD
CA3482900 rs749360583	770	H>L		No	ClinGen ExAC TOPMed gnomAD
rs749360583 CA361527882	770	H>R		No	ClinGen ExAC TOPMed gnomAD
rs1372862367 CA361527683	779	E>K		No	ClinGen gnomAD
CA3482897 rs753094322	782	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA3482898 rs756654044	782	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA3482896 rs376177136	783	R>C		No	ClinGen ESP ExAC gnomAD
CA3482895 rs755265366	783	R>H		No	ClinGen ExAC gnomAD
rs751303598 CA3482894	785	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA361527521 rs766116294	789	R>C		No	ClinGen ExAC gnomAD
COSM1219422 COSM3670335 CA361527518 rs1225752178	789	R>H	large_intestine central_nervous_system [Cosmic]	No	ClinGen cosmic curated TOPMed
CA3482893 rs766116294	789	R>S		No	ClinGen ExAC gnomAD
rs1323549362 CA361527478	792	V>L		No	ClinGen gnomAD
CA128496582 rs138352740	795	S>N		No	ClinGen ESP TOPMed
CA3482889 rs143703336 COSM1219424	797	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs149389126 CA3482886	797	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs149389126 CA3482887	797	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs143703336 CA3482888	797	R>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1313873398 CA361527369	798	G>D	Variant assessed as Somatic; 4.631e-05 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA3482882 rs777928072	800	P>L		No	ClinGen ExAC gnomAD
rs538786315 CA3482883	800	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3482884 rs538786315	800	P>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA128496543 rs751742122	802	R>C		No	ClinGen TOPMed gnomAD
CA361527304 rs751742122	802	R>G		No	ClinGen TOPMed gnomAD
CA3482880 rs370256285	802	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA361527306 rs751742122	802	R>S		No	ClinGen TOPMed gnomAD
rs952644338 CA128496535	803	Y>C		No	ClinGen gnomAD
CA361527235 rs1431971269	804	G>V		No	ClinGen gnomAD
CA361527210 rs1423559568	805	T>I		No	ClinGen TOPMed
rs781527569 CA3482879	807	L>S		No	ClinGen ExAC gnomAD
rs1162060791 CA361527058	812	V>I		No	ClinGen TOPMed
rs751967807 CA361527018	813	N>I		No	ClinGen ExAC TOPMed gnomAD
rs751967807 CA3482876	813	N>S		No	ClinGen ExAC TOPMed gnomAD
rs780499912 CA361526983	815	T>I		No	ClinGen ExAC TOPMed gnomAD
rs780499912 CA3482875	815	T>S		No	ClinGen ExAC TOPMed gnomAD
rs1328764414 CA361526988	815	T>S		No	ClinGen TOPMed
rs758138536 CA3482874	818	N>S		No	ClinGen ExAC gnomAD
rs576196969 CA3482873	819	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3482872 rs138699618	819	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA3482871 rs138699618	819	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA361526887 rs753866439	820	T>K		No	ClinGen ExAC gnomAD
rs753866439 CA3482870	820	T>M		No	ClinGen ExAC gnomAD
CA3482868 rs150197702	821	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA3482867 rs552405695	824	T>N		No	ClinGen ExAC gnomAD
CA361526802 rs1596552294	824	T>P		No	ClinGen Ensembl
CA361526735 COSM1063561 rs1161941993	827	G>D	endometrium [Cosmic]	No	ClinGen cosmic curated gnomAD
rs555945646 CA3482865	832	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	833	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1561481132 CA361526503	837	D>V		No	ClinGen Ensembl
rs769289817 CA3482860	839	A>V		No	ClinGen ExAC gnomAD
rs747461979 CA3482859	845	E>K		No	ClinGen ExAC TOPMed gnomAD
CA3482858 rs780589611	846	R>C	Variant assessed as Somatic; 4.631e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA361526333 rs780589611	846	R>G		No	ClinGen ExAC gnomAD
CA3482857 rs758796441	846	R>H		No	ClinGen ExAC TOPMed gnomAD
rs267600462 CA128496428	847	S>F		No	ClinGen ESP TOPMed
CA128496423 rs1009438365	849	Q>H		No	ClinGen Ensembl
rs778410069 CA3482855	850	R>C		No	ClinGen ExAC TOPMed gnomAD
rs756852838 CA3482854 COSM1063560	850	R>H	endometrium Variant assessed as Somatic; 9.246e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA3482853 rs369689993	854	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	855	F>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA361526178 rs1395008357	857	V>M		No	ClinGen TOPMed
rs1596552089 TCGA novel CA361526100	860	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA Ensembl
rs963117529 CA128496405	862	V>M		No	ClinGen TOPMed
CA361526042 rs1326391005	864	V>M		No	ClinGen gnomAD
rs759302651 CA3482848	865	A>G		No	ClinGen ExAC gnomAD
rs1289743965 CA361526023	865	A>T		No	ClinGen gnomAD
CA361525974 rs1351690591	867	L>F		No	ClinGen gnomAD
rs996382340 CA361525918	869	A>S		No	ClinGen TOPMed gnomAD
CA128496385 rs996382340	869	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs762027956 CA3482845	870	L>V		No	ClinGen ExAC TOPMed gnomAD
CA361525889 rs1180341995	871	A>P		No	ClinGen gnomAD
CA3482844 rs780317619	871	A>V		No	ClinGen ExAC TOPMed gnomAD
rs373060902 CA3482842	873	L>P		No	ClinGen ESP ExAC TOPMed
TCGA novel	873	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA361525831 rs1472862636	875	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA3482841 rs568532537	875	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA3482838 rs778696787	880	R>Q		No	ClinGen ExAC gnomAD
rs369457057 CA3482839	880	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1010971495 CA128496362	882	A>S		No	ClinGen TOPMed
CA3482837 rs756868283	883	K>E		No	ClinGen ExAC gnomAD
rs748917972 CA3482836	884	S>G		No	ClinGen ExAC gnomAD
rs748917972 CA361525656	884	S>R		No	ClinGen ExAC gnomAD
rs1269446230 CA361525564	888	A>V		No	ClinGen gnomAD
rs752678438 CA3482833	893	T>I		No	ClinGen ExAC gnomAD
CA3482831 rs754868492	894	K>N		No	ClinGen ExAC gnomAD
rs1275878552 CA361525392	897	Y>C		No	ClinGen gnomAD
rs751315356 CA3482830	898	A>T		No	ClinGen ExAC gnomAD
rs1363345137 CA361525374	898	A>V		No	ClinGen gnomAD
CA3482829 rs766139826	899	P>R		No	ClinGen ExAC gnomAD
TCGA novel	899	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs375137241 CA3482827	900	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA3482825 rs760818102	902	S>G		No	ClinGen ExAC gnomAD
CA3482824 rs75190873	903	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	905	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA361525200 rs1447260762	910	K>R		No	ClinGen TOPMed gnomAD
CA3482823 rs772705934	911	S>N		No	ClinGen ExAC gnomAD
rs774597170 CA3482821	913	G>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA3482822 rs552147376	913	G>S		No	ClinGen 1000Genomes ExAC gnomAD
rs774597170 CA361525139	913	G>V		No	ClinGen ExAC TOPMed gnomAD
rs1338723847 CA361525108	915	K>N		No	ClinGen TOPMed
CA3482820 rs771282653	916	S>C		No	ClinGen ExAC gnomAD
rs1208631681 CA361525101	916	S>N		No	ClinGen gnomAD
rs1561480614 CA361525059	919	P>L		No	ClinGen Ensembl
CA3482819 rs140336328	919	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1279752987 CA361525021	921	P>L		No	ClinGen gnomAD
CA3482815 rs755677036	922	V>A		No	ClinGen ExAC gnomAD
CA3482816 rs1051999292	922	V>M		No	ClinGen TOPMed gnomAD
rs1324453235 CA361524949	926	E>A		No	ClinGen TOPMed
CA3482814 rs563810727	927	D>N		No	ClinGen 1000Genomes ExAC gnomAD
rs3797055 CA3482812	928	E>K		No	ClinGen 1000Genomes ESP ExAC gnomAD
rs779746035 CA3482810	929	D>N		No	ClinGen ExAC gnomAD
rs758182529 CA3482809	932	G>R		No	ClinGen ExAC TOPMed gnomAD
CA128496264 rs918901939	934	Q>R		No	ClinGen TOPMed
CA361524798 rs1391792190	935	K>E		No	ClinGen gnomAD
CA128496260 rs919883741	935	K>R		No	ClinGen Ensembl
rs868433802 CA128496256	936	S>F		No	ClinGen Ensembl
CA128496238 rs1037343672	940	N>K		No	ClinGen TOPMed
CA3482807 rs754164814	940	N>S		No	ClinGen ExAC gnomAD
rs1483301919 CA361524657	942	M>I		No	ClinGen gnomAD
rs142103365 CA3482805	943	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA3482803 rs767581083	944	D>N		No	ClinGen ExAC TOPMed gnomAD
rs529918090 CA3482802	945	A>S		No	ClinGen 1000Genomes ExAC gnomAD
CA128496221 rs529918090	945	A>T		No	ClinGen 1000Genomes ExAC gnomAD
rs972785562 CA128496205	945	A>V		No	ClinGen Ensembl
rs774887072 CA3482801	946	P>A		No	ClinGen ExAC gnomAD
rs1204174688 CA361524528	948	D>V		No	ClinGen TOPMed
rs772914406 CA3482798	948	D>Y		No	ClinGen ExAC
CA3482796 rs747740639	951	R>C		No	ClinGen ExAC TOPMed gnomAD
CA3482797 rs747740639	951	R>G		No	ClinGen ExAC TOPMed gnomAD
rs200375944 CA3482795	951	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1407938912 CA361524443	953	H>P		No	ClinGen gnomAD
rs1307270813 CA361524446	953	H>Y		No	ClinGen gnomAD
rs1457074654 CA361524399	955	P>A		No	ClinGen gnomAD
CA3482794 rs768679246	955	P>H		No	ClinGen ExAC gnomAD
CA361524343 rs922957862	958	Y>C		No	ClinGen TOPMed gnomAD
rs922957862 CA128496164	958	Y>S		No	ClinGen TOPMed gnomAD
CA3482793 rs375509872	960	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs375509872 CA361524316	960	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA361524263 rs1254379676	962	S>I		No	ClinGen gnomAD
CA361524243 rs1596551492	963	P>A		No	ClinGen Ensembl
CA128496146 rs971684711	964	D>A		No	ClinGen Ensembl
rs750102842 CA3482790	964	D>N		No	ClinGen ExAC gnomAD
CA128496138 rs79125833	966	G>A		No	ClinGen Ensembl
rs754376608 CA128496135	967	R>C		No	ClinGen gnomAD
rs1224059852 CA361524168	967	R>H		No	ClinGen gnomAD
rs1224059852 CA361524161	967	R>L		No	ClinGen gnomAD
CA361524149 rs1178682465	968	H>N		No	ClinGen TOPMed
CA361524084 rs1322349520	970	R>C		No	ClinGen TOPMed gnomAD
TCGA novel	970	R>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3482787 rs572369161	970	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
rs572369161 CA3482788	970	R>L		No	ClinGen 1000Genomes ExAC gnomAD
rs1157040543 CA361524020	973	S>T		No	ClinGen TOPMed
rs1382560706 CA361524013	973	S>Y		No	ClinGen TOPMed
rs1288930806 CA361524001	974	P>L		No	ClinGen gnomAD
CA361523931 rs1321930638	977	S>F		No	ClinGen gnomAD
CA361523909 rs1596551359	978	I>T		No	ClinGen Ensembl
CA361523877 rs996328645	980	L>M		No	ClinGen TOPMed gnomAD
CA128496080 rs764060929	985	P>S		No	ClinGen Ensembl
CA361523641 rs1302847569	989	K>R		No	ClinGen TOPMed
CA361523546 rs1156367838	993	V>M		No	ClinGen gnomAD
TCGA novel	996	D>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA361523482 rs773411608	996	D>N		No	ClinGen ExAC
CA3482781 rs773411608	996	D>Y		No	ClinGen ExAC
rs1352332721 CA361523407	999	P>R		No	ClinGen TOPMed
CA3482779 rs761565221	999	P>S		No	ClinGen ExAC gnomAD
rs186780646 CA3482775	1003	F>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs746978606 CA3482773	1004	V>M		No	ClinGen ExAC gnomAD
CA361523275 rs1193126943	1006	T>I		No	ClinGen gnomAD
CA3482770 rs556245446	1007	G>R		No	ClinGen 1000Genomes ExAC gnomAD
CA361523222 rs1596551184	1009	T>P		No	ClinGen Ensembl
rs745425766 CA3482769	1010	T>M		No	ClinGen ExAC TOPMed gnomAD
CA3482767 COSM313911 rs200143790	1012	T>M	lung [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs781632452 CA3482765	1013	G>D		No	ClinGen ExAC gnomAD
CA361523114 rs1318154288	1015	E>K		No	ClinGen gnomAD
CA3482762 rs766854307	1016	Q>L		No	ClinGen ExAC gnomAD
rs1376280886 CA361523039	1018	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs140974807 CA3482760	1019	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA3482759 rs765403385	1020	Y>H		No	ClinGen ExAC gnomAD
CA361522969 rs1466261512	1021	S>N		No	ClinGen gnomAD
CA3482758 rs200867420	1022	Y>C		No	ClinGen 1000Genomes ExAC gnomAD
rs147327566 CA3482757	1023	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs767284701 CA128495999	1023	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA361522925 rs1233642853	1024	T>A		No	ClinGen gnomAD
CA3482756 rs763953011	1025	N>D		No	ClinGen ExAC gnomAD
rs1364720699 CA361522881	1026	P>L		No	ClinGen TOPMed
CA3482753 rs368562035	1027	P>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA128495983 rs368562035	1027	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA3482754 rs368562035	1027	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1365281038 CA361522873	1027	P>S		No	ClinGen gnomAD
CA361522875 rs1365281038	1027	P>T		No	ClinGen gnomAD
rs776686446	1028	K>Q	Variant assessed as Somatic; 9.834e-05 impact. [NCI-TCGA]	No	NCI-TCGA
CA361522832 rs1164880944	1029	Y>*		No	ClinGen Ensembl
CA128495974 rs931148838	1029	Y>C		No	ClinGen Ensembl
CA361522834 rs931148838	1029	Y>S		No	ClinGen Ensembl
rs1007717768 CA128495964	1030	P>A		No	ClinGen TOPMed
rs745335942 CA3482751	1031	S>G		No	ClinGen ExAC gnomAD
CA3482750 rs774024986	1031	S>I		No	ClinGen ExAC TOPMed gnomAD
CA361522807 rs774024986	1031	S>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA361522766 rs1435651864	1033	Q>R		No	ClinGen gnomAD
CA361522754 rs1389958672	1034	V>I		No	ClinGen gnomAD
rs1166932230 CA361522703	1036	Q>R		No	ClinGen gnomAD
CA3482748 rs748956355	1039	Q>H		No	ClinGen ExAC gnomAD
CA3482746 rs375272019	1042	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs142669127 CA3482745	1043	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs142669127 CA3482744	1043	P>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1332240913 CA361522575	1044	Q>H		No	ClinGen gnomAD
rs1480563423 CA361522559	1045	P>L		No	ClinGen TOPMed
CA361522567 rs1266523700	1045	P>S		No	ClinGen TOPMed
CA361522554 rs1596550872	1046	L>Q		No	ClinGen Ensembl
rs1278103234 CA361522533	1047	P>R		No	ClinGen gnomAD
rs758934739 CA3482743	1047	P>T		No	ClinGen ExAC gnomAD
rs750452316 CA3482742	1048	H>D		No	ClinGen ExAC gnomAD
CA3482741 rs201613360	1049	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA128495920 rs986452929	1050	Y>C		No	ClinGen Ensembl
CA361522415 rs1241932869	1052	G>A		No	ClinGen gnomAD
CA3482738 rs370784028	1052	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA3482737 rs760492715	1053	A>V		No	ClinGen ExAC TOPMed gnomAD
CA128495907 rs774117618	1054	I>T		No	ClinGen Ensembl
rs775184102 CA3482736	1055	W>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1431835036 CA361522314	1057	E>D		No	ClinGen gnomAD
rs759562831 CA3482734	1057	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1397416856 CA361522269	1059	W>*		No	ClinGen gnomAD

No associated diseases with Q08174

12 regional properties for Q08174

Type	Name	Position	InterPro Accession
domain	Cadherin-like	56 - 168	IPR002126-1
domain	Cadherin-like	169 - 280	IPR002126-2
domain	Cadherin-like	281 - 387	IPR002126-3
domain	Cadherin-like	396 - 506	IPR002126-4
domain	Cadherin-like	506 - 715	IPR002126-5
domain	Cadherin-like	731 - 844	IPR002126-6
domain	Cadherin, N-terminal	60 - 140	IPR013164
domain	Protocadherin	815 - 1028	IPR013585
conserved_site	Cadherin conserved site	268 - 278	IPR020894-1
conserved_site	Cadherin conserved site	494 - 504	IPR020894-2
conserved_site	Cadherin conserved site	600 - 610	IPR020894-3
conserved_site	Cadherin conserved site	703 - 713	IPR020894-4

Functions

		Description
EC Number
Subcellular Localization	Cell junction Cell membrane ; Single-pass type I membrane protein	Found at cell-cell boundaries and probably at cell-matrix boundaries
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

7 GO annotations of cellular component

Name	Definition
cell junction	A cellular component that forms a specialized region of connection between two or more cells, or between a cell and the extracellular matrix, or between two membrane-bound components of a cell, such as flagella.
cell-cell junction	A cell junction that forms a connection between two or more cells of an organism; excludes direct cytoplasmic intercellular bridges, such as ring canals in insects.
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.
intracellular membrane-bounded organelle	Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane.
nucleolus	A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome.
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

1 GO annotations of molecular function

Name	Definition
calcium ion binding	Binding to a calcium ion (Ca2+).

4 GO annotations of biological process

Name	Definition
cell adhesion	The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules.
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.
homophilic cell adhesion via plasma membrane adhesion molecules	The attachment of a plasma membrane adhesion molecule in one cell to an identical molecule in an adjacent cell.
nervous system development	The process whose specific outcome is the progression of nervous tissue over time, from its formation to its mature state.

20 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q9BZA8	PCDH11Y	Protocadherin-11 Y-linked	Homo sapiens (Human)	PR
Q9HC56	PCDH9	Protocadherin-9	Homo sapiens (Human)	PR
Q9P2E7	PCDH10	Protocadherin-10	Homo sapiens (Human)	PR
Q9Y5H8	PCDHA3	Protocadherin alpha-3	Homo sapiens (Human)	PR
Q9UN75	PCDHA12	Protocadherin alpha-12	Homo sapiens (Human)	PR
Q9Y5I2	PCDHA10	Protocadherin alpha-10	Homo sapiens (Human)	PR
Q9UN72	PCDHA7	Protocadherin alpha-7	Homo sapiens (Human)	PR
Q9UN74	PCDHA4	Protocadherin alpha-4	Homo sapiens (Human)	PR
Q9Y5I1	PCDHA11	Protocadherin alpha-11	Homo sapiens (Human)	PR
Q9Y5H7	PCDHA5	Protocadherin alpha-5	Homo sapiens (Human)	PR
Q9UN73	PCDHA6	Protocadherin alpha-6	Homo sapiens (Human)	PR
Q9Y5H6	PCDHA8	Protocadherin alpha-8	Homo sapiens (Human)	PR
Q9Y5I3	PCDHA1	Protocadherin alpha-1	Homo sapiens (Human)	PR
Q9Y5H9	PCDHA2	Protocadherin alpha-2	Homo sapiens (Human)	PR
Q9Y5H3	PCDHGA10	Protocadherin gamma-A10	Homo sapiens (Human)	PR
O60330	PCDHGA12	Protocadherin gamma-A12	Homo sapiens (Human)	PR
Q9Y5G4	PCDHGA9	Protocadherin gamma-A9	Homo sapiens (Human)	PR
Q9Y5G0	PCDHGB5	Protocadherin gamma-B5	Homo sapiens (Human)	PR
Q9Y5E3	PCDHB6	Protocadherin beta-6	Homo sapiens (Human)	PR
Q9Y5F1	PCDHB12	Protocadherin beta-12	Homo sapiens (Human)	PR

10	20	30	40	50	60
MDSGAGGRRC	PEAALLILGP	PRMEHLRHSP	GPGGQRLLLP	SMLLALLLLL	APSPGHATRV
70	80	90	100	110	120
VYKVPEEQPP	NTLIGSLAAD	YGFPDVGHLY	KLEVGAPYLR	VDGKTGDIFT	TETSIDREGL
130	140	150	160	170	180
RECQNQLPGD	PCILEFEVSI	TDLVQNGSPR	LLEGQIEVQD	INDNTPNFAS	PVITLAIPEN
190	200	210	220	230	240
TNIGSLFPIP	LASDRDAGPN	GVASYELQAG	PEAQELFGLQ	VAEDQEEKQP	QLIVMGNLDR
250	260	270	280	290	300
ERWDSYDLTI	KVQDGGSPPR	ASSALLRVTV	LDTNDNAPKF	ERPSYEAELS	ENSPIGHSVI
310	320	330	340	350	360
QVKANDSDQG	ANAEIEYTFH	QAPEVVRRLL	RLDRNTGLIT	VQGPVDREDL	STLRFSVLAK
370	380	390	400	410	420
DRGTNPKSAR	AQVVVTVKDM	NDNAPTIEIR	GIGLVTHQDG	MANISEDVAE	ETAVALVQVS
430	440	450	460	470	480
DRDEGENAAV	TCVVAGDVPF	QLRQASETGS	DSKKKYFLQT	TTPLDYEKVK	DYTIEIVAVD
490	500	510	520	530	540
SGNPPLSSTN	SLKVQVVDVN	DNAPVFTQSV	TEVAFPENNK	PGEVIAEITA	SDADSGSNAE
550	560	570	580	590	600
LVYSLEPEPA	AKGLFTISPE	TGEIQVKTSL	DREQRESYEL	KVVAADRGSP	SLQGTATVLV
610	620	630	640	650	660
NVLDCNDNDP	KFMLSGYNFS	VMENMPALSP	VGMVTVIDGD	KGENAQVQLS	VEQDNGDFVI
670	680	690	700	710	720
QNGTGTILSS	LSFDREQQST	YTFQLKAVDG	GVPPRSAYVG	VTINVLDEND	NAPYITAPSN
730	740	750	760	770	780
TSHKLLTPQT	RLGETVSQVA	AEDFDSGVNA	ELIYSIAGGN	PYGLFQIGSH	SGAITLEKEI
790	800	810	820	830	840
ERRHHGLHRL	VVKVSDRGKP	PRYGTALVHL	YVNETLANRT	LLETLLGHSL	DTPLDIDIAG
850	860	870	880	890	900
DPEYERSKQR	GNILFGVVAG	VVAVALLIAL	AVLVRYCRQR	EAKSGYQAGK	KETKDLYAPK
910	920	930	940	950	960
PSGKASKGNK	SKGKKSKSPK	PVKPVEDEDE	AGLQKSLKFN	LMSDAPGDSP	RIHLPLNYPP
970	980	990	1000	1010	1020
GSPDLGRHYR	SNSPLPSIQL	QPQSPSASKK	HQVVQDLPPA	NTFVGTGDTT	STGSEQYSDY
1030	1040	1050
SYRTNPPKYP	SKQVGQPFQL	STPQPLPHPY	HGAIWTEVWE