AiPD: Autoinhibited Protein Database

O60716

Gene name	CTNND1 (KIAA0384)
Protein name	Catenin delta-1
Names	Cadherin-associated Src substrate, CAS, p120 catenin, p120(ctn), p120(cas)
Species	Homo sapiens (Human)
KEGG Pathway	hsa:1500
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

281-351 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

281-351 (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

3 structures for O60716

Entry ID	Method	Resolution	Chain	Position	Source
3L6X	X-ray	240 A	A	324-937	PDB
3L6Y	X-ray	300 A	A/C/E	324-937	PDB
AF-O60716-F1	Predicted				AlphaFoldDB

729 variants for O60716

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA6010129 rs567875341 RCV001034564	19	Q>E	Cleft lip with or without cleft palate [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000505783 rs1555053981	203	P>missing	Blepharocheilodontic syndrome 2 [ClinVar]	Yes	ClinVar dbSNP
RCV001034558 rs2061409627	313	D>missing	Cleft lip with or without cleft palate [ClinVar]	Yes	ClinVar dbSNP
rs2062048292 RCV001034556	336	W>*	Cleft lip with or without cleft palate [ClinVar]	Yes	ClinVar dbSNP
rs1555057581 CA380725545 RCV000505753	365	Q>*	Blepharocheilodontic syndrome 2 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
VAR_079395	365	Q>del	BCDS2 [UniProt]	Yes	UniProt
RCV001332801 rs533993840	396	R>G	Blepharocheilodontic syndrome 2 [ClinVar]	Yes	ClinVar dbSNP
CA380727161 rs1314067686 RCV001034560	499	D>G	Cleft lip with or without cleft palate [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
CA6010480 rs775782206 RCV001034561	558	L>F	Cleft lip with or without cleft palate [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001198014 rs2062434410	563	Q>*	Blepharocheilodontic syndrome 2 [ClinVar]	Yes	ClinVar dbSNP
RCV001034566 rs2062434410	563	Q>E	Cleft lip with or without cleft palate [ClinVar]	Yes	ClinVar dbSNP
RCV001034565 rs2062435587	574	K>R	Cleft lip with or without cleft palate [ClinVar]	Yes	ClinVar dbSNP
rs780642639 CA223098416 RCV001034562	584	R>W	Cleft lip with or without cleft palate Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar Ensembl NCI-TCGA dbSNP
RCV001034563 rs2062949363	696	W>C	Cleft lip with or without cleft palate [ClinVar]	Yes	ClinVar dbSNP
rs1277132301 RCV000505713 CA380729580	700	R>*	Blepharocheilodontic syndrome 2 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
VAR_079396	700	R>del	BCDS2 [UniProt]	Yes	UniProt
RCV000985038 rs1591672193 CA380815970 RCV001034557	858	R>*	Cleft lip with or without cleft palate Blepharocheilodontic syndrome 2 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA380722508 rs762148167	2	D>E		No	ClinGen ExAC TOPMed gnomAD
CA380722517 rs1473977109	3	D>G		No	ClinGen gnomAD
rs890759549 CA223088403	3	D>N		No	ClinGen TOPMed gnomAD
rs1415302621 CA380722547	5	E>G		No	ClinGen TOPMed
rs1591438219 CA380722565	6	V>G		No	ClinGen Ensembl
rs1186584709 CA380722574	7	E>G		No	ClinGen TOPMed
CA6010117 rs765794488	8	S>A		No	ClinGen ExAC TOPMed gnomAD
COSM1604773 rs1591438329 CA380722588 COSM1604774	8	S>L	liver [Cosmic]	No	ClinGen cosmic curated Ensembl
rs570725162 CA380722598	9	T>N		No	ClinGen 1000Genomes TOPMed
rs1591438385 CA380722592	9	T>P		No	ClinGen Ensembl
rs570725162 CA223088405	9	T>S		No	ClinGen 1000Genomes TOPMed
rs766496020 CA6010120	10	A>P		No	ClinGen ExAC TOPMed gnomAD
rs766496020 CA6010121	10	A>T		No	ClinGen ExAC TOPMed gnomAD
rs755258135 CA6010122	10	A>V		No	ClinGen ExAC TOPMed gnomAD
CA380722613 rs1450436455	11	S>G		No	ClinGen gnomAD
CA380722628 rs767815678	12	I>F		No	ClinGen ExAC TOPMed gnomAD
rs767815678 CA380722625	12	I>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	12	I>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	12	I>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6010123 rs767815678	12	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1413078259 CA380722654	14	A>T		No	ClinGen gnomAD
CA6010128 rs749249615	18	E>K		No	ClinGen ExAC gnomAD
CA6010127 rs749249615	18	E>Q		No	ClinGen ExAC gnomAD
CA380722743 CA380722745 rs369782234	20	E>D		No	ClinGen ESP TOPMed gnomAD
CA6010130 rs745341145	23	F>C		No	ClinGen ExAC gnomAD
CA223088465 rs952434814	24	E>Q		No	ClinGen Ensembl
CA380722823 rs1187034210	26	L>R		No	ClinGen Ensembl
rs775113600 CA6010132	28	R>L		No	ClinGen ExAC gnomAD
rs775113600 CA380722843	28	R>P		No	ClinGen ExAC gnomAD
rs775113600 CA380722841	28	R>Q		No	ClinGen ExAC gnomAD
CA380722838 rs1252394563	28	R>W		No	ClinGen gnomAD
CA380722845 rs1391800941	29	A>T		No	ClinGen TOPMed
rs748583238 CA6010133	29	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1245887114 CA380722867	31	E>Q		No	ClinGen Ensembl
CA380722886 rs1359359948	32	E>V		No	ClinGen TOPMed gnomAD
CA6010136 rs767264268	34	R>G		No	ClinGen ExAC TOPMed gnomAD
CA380722913 rs1375089467	34	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA6010137 rs767264268	34	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1174986372 CA380722928	35	R>P		No	ClinGen TOPMed
rs1271578696 CA380722938	36	H>P		No	ClinGen TOPMed gnomAD
CA380722943 rs774529231	36	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA380722947 rs1309972781	37	V>F		No	ClinGen gnomAD
CA380722951 rs1309972781	37	V>I		No	ClinGen gnomAD
rs1186189312 CA380722982	39	A>V		No	ClinGen gnomAD
rs752959152 CA6010141	40	Q>P		No	ClinGen ExAC gnomAD
CA223088525 rs960657064	43	R>C		No	ClinGen Ensembl
CA6010142 rs756334246	44	V>F		No	ClinGen ExAC TOPMed gnomAD
rs756334246 CA380723039	44	V>I		No	ClinGen ExAC TOPMed gnomAD
rs756334246 CA380723041	44	V>L		No	ClinGen ExAC TOPMed gnomAD
CA6010143 rs772675681	45	R>Q		No	ClinGen ExAC gnomAD
CA6010144 rs753525635	46	V>I		No	ClinGen ExAC gnomAD
COSM1197148 RCV000889834 rs145191455 COSM1197149 CA6010148	52	N>S	lung [Cosmic]	No	ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs779472469 CA6010149	53	P>T		No	ClinGen ExAC gnomAD
rs1478202827 CA380723164	54	L>V		No	ClinGen gnomAD
CA380723186 rs1222205729	55	M>I		No	ClinGen TOPMed
rs1162775474 CA380723175	55	M>V		No	ClinGen gnomAD
CA6010153 rs768249407	56	A>V		No	ClinGen ExAC gnomAD
CA380723221 rs1170772564	58	G>S		No	ClinGen gnomAD
rs771515687 CA6010156	61	T>P		No	ClinGen ExAC TOPMed gnomAD
rs771515687 CA6010157	61	T>S		No	ClinGen ExAC TOPMed gnomAD
rs747333220 CA223088605	62	R>C		No	ClinGen gnomAD
CA380723257 rs747333220	62	R>G		No	ClinGen gnomAD
rs925135178 COSM1152363 CA223088609 COSM928701	62	R>H	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs747333220 CA380723256	62	R>S		No	ClinGen gnomAD
rs759728124 CA6010158	63	R>Q		No	ClinGen ExAC gnomAD
CA380723261 rs932570817	63	R>W		No	ClinGen gnomAD
rs1382872602 CA380723301	67	G>D		No	ClinGen gnomAD
CA223090459 rs920179547	67	G>S		No	ClinGen TOPMed gnomAD
CA6010178 rs779266022	68	R>P		No	ClinGen ExAC TOPMed gnomAD
COSM928702 rs779266022 CA6010177 COSM1585820	68	R>Q	endometrium Variant assessed as Somatic; 0.000232 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA6010176 rs201927451	68	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA380723308 rs1591470952	69	F>V		No	ClinGen Ensembl
rs371264068 CA6010180	72	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs1565328987 CA380723361	77	R>G		No	ClinGen Ensembl
CA223090502 rs374173249	81	S>L		No	ClinGen ESP
rs1394241627 CA380723399	82	D>Y		No	ClinGen TOPMed
COSM3383603 RCV000896134 rs76817459 COSM3383602 CA6010182	86	N>S	pancreas [Cosmic]	No	ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
TCGA novel	87	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6010183 rs776716629	87	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA380723447 rs1416356339	89	Q>R		No	ClinGen gnomAD
rs61754546 CA6010203	90	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1383169099 CA380723474	91	H>R		No	ClinGen TOPMed
CA380723472 rs1450932640	91	H>Y		No	ClinGen Ensembl
rs770019209 CA6010204	92	S>N		No	ClinGen ExAC TOPMed gnomAD
CA6010205 rs773033117	93	H>Y		No	ClinGen ExAC gnomAD
CA6010206 rs762711712	97	S>T		No	ClinGen ExAC gnomAD
CA6010207 rs371716100	98	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA6010208 rs774265957	101	R>G		No	ClinGen ExAC TOPMed gnomAD
CA380723543 rs1189768010	102	M>L		No	ClinGen TOPMed
CA6010209 rs759450868	103	Q>R		No	ClinGen ExAC gnomAD
rs1395258127 CA380723558	104	E>K		No	ClinGen gnomAD
CA6010210 rs199743391	105	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6010211 rs199743391	105	P>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs758832847 CA6010215	106	G>E		No	ClinGen ExAC gnomAD
rs750877877 CA6010214	106	G>W		No	ClinGen ExAC
CA6010217 rs147401852	108	I>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA380723586 rs1388257798	108	I>M		No	ClinGen TOPMed gnomAD
rs1394252031 CA380723584	108	I>T		No	ClinGen TOPMed gnomAD
CA223091909 rs147401852	108	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA380723589 rs1301749838	109	V>L		No	ClinGen gnomAD
rs375424851 CA6010218	111	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA6010219 rs375424851	111	T>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs201712948 CA380723608	112	Y>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs201712948 CA6010220	112	Y>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs773407759 CA6010222	113	T>M		No	ClinGen ExAC TOPMed gnomAD
rs201815246 CA6010221	113	T>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs974949339 CA223091922	119	G>*		No	ClinGen Ensembl
CA380723658 rs1251203516	119	G>E		No	ClinGen gnomAD
rs1045472661 CA223091923	120	A>T		No	ClinGen TOPMed
CA6010223 rs749144617	121	M>L		No	ClinGen ExAC TOPMed gnomAD
rs974593994 CA223091927	121	M>T		No	ClinGen Ensembl
rs749144617 CA380723664	121	M>V		No	ClinGen ExAC TOPMed gnomAD
CA380723687 rs1212201045	124	V>A		No	ClinGen gnomAD
CA380723685 rs1414851932	124	V>F		No	ClinGen TOPMed
rs922956469 CA223091929	126	V>A		No	ClinGen TOPMed gnomAD
CA6010224 rs770713347	127	E>D		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	131	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1055430896 CA223091940	134	T>A		No	ClinGen TOPMed
CA223091941 rs932957523	134	T>I		No	ClinGen gnomAD
rs932957523 CA380723750	134	T>S		No	ClinGen gnomAD
rs189718729 CA6010226	135	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6010227 rs767448387	135	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs189718729 CA223091953	135	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6010228 rs774901816	136	R>C		No	ClinGen ExAC TOPMed gnomAD
CA223091974 rs867108561	136	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs374433581 CA6010229	137	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs200594061 CA6010230	140	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA6010243 rs771093282	143	K>Q		No	ClinGen ExAC TOPMed gnomAD
rs368737677 CA6010244	143	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA6010245 rs745643597	145	V>M		No	ClinGen ExAC gnomAD
CA6010247 rs377196194	146	K>T		No	ClinGen ESP ExAC TOPMed gnomAD
COSM1475572 rs760465020 COSM429295 CA6010248	147	T>S	breast [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs868428792 CA223092648	148	V>M		No	ClinGen Ensembl
CA223092692 rs1003184048	149	T>K		No	ClinGen TOPMed
CA6010249 rs768296497	150	T>A		No	ClinGen ExAC TOPMed gnomAD
COSM3416002 CA6010250 COSM3416003 rs776232220	151	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA380723852 rs1442201279	151	R>W		No	ClinGen gnomAD
rs1256672182 CA380723856	152	T>A		No	ClinGen gnomAD
rs1474171022 CA380723858	152	T>K		No	ClinGen gnomAD
rs1274442550 CA380723864	153	V>E		No	ClinGen TOPMed
CA380723871 rs1408432586	154	Q>R		No	ClinGen gnomAD
CA223092721 rs765227430	155	P>L		No	ClinGen TOPMed
CA380723878 rs765227430	155	P>Q		No	ClinGen TOPMed
CA6010252 rs761593450	157	A>S		No	ClinGen ExAC gnomAD
CA6010251 rs761593450	157	A>T		No	ClinGen ExAC gnomAD
CA6010253 rs777313474	158	M>V		No	ClinGen ExAC TOPMed gnomAD
rs10896644 CA380723917	161	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1436618007 CA380723912	161	D>Y		No	ClinGen gnomAD
rs547862516 CA6010255	162	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6010257 rs753248517	166	D>N		No	ClinGen ExAC gnomAD
rs753248517 CA6010256	166	D>Y		No	ClinGen ExAC gnomAD
CA380723952 rs1281848639	167	A>G		No	ClinGen gnomAD
rs1223596774 CA380723958	168	S>L		No	ClinGen TOPMed gnomAD
CA6010258 rs777848403	168	S>P		No	ClinGen ExAC TOPMed gnomAD
rs770936827 CA6010259	171	S>A		No	ClinGen ExAC TOPMed gnomAD
VAR_038255 rs11229133 CA223092763	171	S>F		No	ClinGen UniProt Ensembl dbSNP
CA223092770 rs757374449	174	Y>C		No	ClinGen TOPMed
rs757509993 CA6010260	174	Y>D		No	ClinGen ExAC gnomAD
rs779083850 CA6010261	175	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1030128042 CA223092779	177	T>S		No	ClinGen Ensembl
rs745706332 CA6010262	178	L>S		No	ClinGen ExAC gnomAD
rs890246272 CA223092781	180	R>C		No	ClinGen TOPMed
CA6010263 rs771907778	180	R>H	Variant assessed as Somatic; 4.641e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA6010264 rs779658100	182	F>I		No	ClinGen ExAC gnomAD
CA6010265 rs746989296	183	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA380724049 rs1406000983	183	R>H		No	ClinGen TOPMed gnomAD
rs776325877 CA6010267	184	K>Q		No	ClinGen ExAC gnomAD
rs776369604 CA6010268	187	N>D		No	ClinGen ExAC TOPMed gnomAD
rs769631445 CA6010269	187	N>S		No	ClinGen ExAC TOPMed gnomAD
rs373643406 CA380724088	189	G>A		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	189	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs373643406 CA6010270	189	G>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA6010271 rs373643406	189	G>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA380724098 rs1437311904	191	G>V		No	ClinGen gnomAD
CA380724106 rs1441887619	192	P>L		No	ClinGen gnomAD
CA223092799 rs376734150	193	Y>C		No	ClinGen ESP TOPMed gnomAD
rs376734150 CA380724110	193	Y>S		No	ClinGen ESP TOPMed gnomAD
rs1285517738 CA380724150	199	T>S		No	ClinGen TOPMed
rs116155541 CA6010274	200	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs530255816 CA223092819	200	A>V		No	ClinGen 1000Genomes
rs374492549 CA6010275	201	T>A		No	ClinGen ESP ExAC gnomAD
CA380724156 rs374492549	201	T>P		No	ClinGen ESP ExAC gnomAD
CA380724163 rs1273581564	202	L>F		No	ClinGen gnomAD
CA380724207 rs1591504282	208	Y>S		No	ClinGen Ensembl
rs757313779 CA380724215	209	P>H		No	ClinGen ExAC gnomAD
rs757313779 CA6010277	209	P>R		No	ClinGen ExAC gnomAD
CA380724230 rs1376583764	211	D>E		No	ClinGen Ensembl
rs750672401 CA6010279	212	G>V		No	ClinGen ExAC TOPMed gnomAD
CA6010280 rs758501334	215	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
COSM1202604 COSM1202603 CA6010281 rs376380308	215	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA223092879 rs758501334	215	R>S		No	ClinGen ExAC TOPMed gnomAD
CA6010282 VAR_020929 rs11570194	217	Y>C		No	ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
rs755018338 CA6010283	218	E>D		No	ClinGen ExAC TOPMed gnomAD
CA6010284 rs781264919	219	D>G		No	ClinGen ExAC gnomAD
CA6010285 rs781264919	219	D>V		No	ClinGen ExAC gnomAD
CA6010286 rs539162406	220	G>D		No	ClinGen ExAC TOPMed gnomAD
rs539162406 CA380724287	220	G>V		No	ClinGen ExAC TOPMed gnomAD
rs928839805 CA223092914	221	Y>F		No	ClinGen Ensembl
TCGA novel	223	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1183571657 CA380724312	224	G>V		No	ClinGen TOPMed
CA380724314 rs1418213648	225	S>G		No	ClinGen TOPMed gnomAD
rs772536053 CA6010287	228	Y>C		No	ClinGen ExAC gnomAD
rs570060177 CA6010290	233	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6010289 rs570060177	233	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6010288 rs748989464	233	R>W		No	ClinGen ExAC gnomAD
rs1451866434 CA380724375	234	V>G		No	ClinGen TOPMed
CA6010291 rs761005151	234	V>M		No	ClinGen ExAC gnomAD
rs201307327 CA6010292	236	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1002823840 CA223093002	236	R>H		No	ClinGen TOPMed gnomAD
rs1002823840 CA380724385	236	R>L		No	ClinGen TOPMed gnomAD
rs777117045 CA6010293	237	I>F		No	ClinGen ExAC gnomAD
CA380724389 rs1288835392	237	I>T		No	ClinGen TOPMed
CA6010294 rs762252470	238	E>D		No	ClinGen ExAC gnomAD
CA6010295 rs373579915	239	E>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs769538319 CA6010297	240	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs750431202 CA6010296	240	R>W		No	ClinGen ExAC TOPMed gnomAD
CA223093027 rs866823237	241	Y>C		No	ClinGen Ensembl
rs1591505233 CA380724411	241	Y>D		No	ClinGen Ensembl
rs1346529880 CA380724416	242	R>G		No	ClinGen gnomAD
CA380724418 rs1435985474	242	R>K		No	ClinGen TOPMed
CA380724442 rs1195666915	245	M>R		No	ClinGen gnomAD
rs1350734977 CA380724449	246	E>A		No	ClinGen TOPMed
rs199994040 CA6010299	249	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
COSM1152365 CA380724469 COSM928707 rs1475157781	249	R>W	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA380724472 rs1420653323	250	A>T		No	ClinGen gnomAD
rs754819160 CA6010300	250	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1338880989 CA380724485	252	S>R		No	ClinGen TOPMed gnomAD
rs371703558 CA6010303	254	Q>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6010302 rs748107990	254	Q>R		No	ClinGen ExAC gnomAD
rs1318641098 CA380724513	256	V>L		No	ClinGen TOPMed gnomAD
rs1318641098 CA380724512	256	V>M		No	ClinGen TOPMed gnomAD
CA6010305 rs748716507	258	G>E		No	ClinGen ExAC gnomAD
rs932070413 CA223093068	259	P>H		No	ClinGen TOPMed gnomAD
rs932070413 CA223093071	259	P>L		No	ClinGen TOPMed gnomAD
CA223093088 rs1051773168	263	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
COSM3809602 COSM3809601 rs770665127 CA6010306	264	R>W	Variant assessed as Somatic; 4.672e-05 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs773860454 CA6010307	267	G>R		No	ClinGen ExAC gnomAD
rs1333994199 CA380724592	269	S>G		No	ClinGen Ensembl
TCGA novel	269	S>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6010309 rs375357435	270	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	272	L>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA380724621 rs1217858549	273	H>R		No	ClinGen TOPMed
rs368249782 CA6010310	274	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs762340314 CA6010311	274	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs368249782 CA380724625	274	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1464067563 CA380724640	276	H>P		No	ClinGen Ensembl
TCGA novel	276	H>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1260167030 CA380724650	277	P>L		No	ClinGen TOPMed gnomAD
rs1305811590 CA380724667	280	Y>D		No	ClinGen TOPMed
rs201654277 CA380724676	281	G>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs201654277 CA6010312	281	G>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA223093127 rs764358522	282	L>P		No	ClinGen Ensembl
CA380724694 rs1367084179	284	D>G		No	ClinGen gnomAD
rs773394853 CA6010313	286	Q>R		No	ClinGen ExAC gnomAD
rs762931892 CA6010314	287	R>C		No	ClinGen ExAC TOPMed gnomAD
CA6010315 rs200914456	287	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1414062277 CA380724718	288	S>G		No	ClinGen gnomAD
CA6010317 rs755190204	289	M>I		No	ClinGen ExAC TOPMed gnomAD
CA380724726 rs1291422553	289	M>V		No	ClinGen gnomAD
CA380724735 rs1280315353	290	G>D		No	ClinGen gnomAD
rs767439878 CA6010318	290	G>S		No	ClinGen ExAC TOPMed gnomAD
CA6010319 rs752496940	291	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA6010322 rs753444751	293	D>E		No	ClinGen ExAC TOPMed gnomAD
CA6010321 rs777548439	293	D>G		No	ClinGen ExAC gnomAD
CA380724753 rs1397287146	293	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1421184721 CA380724783	297	G>A		No	ClinGen gnomAD
rs756715043 CA6010323	297	G>S		No	ClinGen ExAC gnomAD
CA380724791 rs1183024069	298	M>I		No	ClinGen gnomAD
CA6010325 rs369793637	299	M>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA6010324 rs778325828	299	M>V		No	ClinGen ExAC gnomAD
rs761731843 CA6010326	302	Y>D		No	ClinGen ExAC TOPMed gnomAD
rs781576286 CA6010327	305	A>T		No	ClinGen ExAC gnomAD
CA380724838 rs1187811327	305	A>V		No	ClinGen TOPMed
rs748440586 CA6010328	306	R>C		No	ClinGen ExAC TOPMed gnomAD
rs201576501 CA6010329	306	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA223093222 rs201576501	306	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	307	R>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6010331 rs371819372	307	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6010330 rs200103203	307	R>W		No	ClinGen ExAC TOPMed gnomAD
CA380724846 rs1327914254	308	T>A		No	ClinGen TOPMed gnomAD
TCGA novel	308	T>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA380724847 rs1327914254	308	T>S		No	ClinGen TOPMed gnomAD
CA380724853 rs1296592078	309	G>W		No	ClinGen TOPMed
rs1333804844 CA380724862	310	T>I		No	ClinGen TOPMed gnomAD
CA380724860 rs1333804844	310	T>K		No	ClinGen TOPMed gnomAD
CA380724870 rs1238239933	312	S>A		No	ClinGen gnomAD
rs199813020 CA6010334	315	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs759865860 CA6010335	315	R>H		No	ClinGen ExAC gnomAD
rs752588844 CA6010337	316	R>W		No	ClinGen ExAC TOPMed gnomAD
rs760374994 CA6010338	317	R>C		No	ClinGen ExAC TOPMed gnomAD
rs764156809 CA6010339 COSM1152366 COSM928708	317	R>H	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs772479332 CA6010354	320	S>T		No	ClinGen ExAC gnomAD
rs1284145265 CA380725034	321	Y>C		No	ClinGen TOPMed
CA380725027 rs1445417963	321	Y>N		No	ClinGen TOPMed
rs570151298 CA223096045	323	D>G		No	ClinGen TOPMed gnomAD
rs1263212173 CA380725079	324	M>I		No	ClinGen gnomAD
CA223096046 rs1044369500	324	M>V		No	ClinGen TOPMed
rs1428652487 CA380725091	325	I>T		No	ClinGen gnomAD
rs775849528 CA6010355	326	G>V		No	ClinGen ExAC gnomAD
CA6010356 rs370901334	329	V>M		No	ClinGen ESP ExAC gnomAD
rs763808134 CA6010357	330	P>L		No	ClinGen ExAC gnomAD
CA6010358 rs776448167	331	S>L		No	ClinGen ExAC TOPMed gnomAD
CA380725166 rs1457571438	332	D>G		No	ClinGen TOPMed gnomAD
CA380725182 rs1292074607	333	Q>H		No	ClinGen TOPMed gnomAD
CA380725189 rs1318866579	334	Y>C		No	ClinGen TOPMed
rs1364159450 CA380725206	335	Y>C		No	ClinGen TOPMed gnomAD
CA6010360 rs765137672	337	A>V		No	ClinGen ExAC TOPMed
TCGA novel	338	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6010361 rs749993801	340	A>T		No	ClinGen ExAC TOPMed gnomAD
rs938719457 CA223096057	342	H>R		No	ClinGen TOPMed
CA6010362 rs537670299	344	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1292378346 CA380725326	346	S>G		No	ClinGen TOPMed gnomAD
rs765812783 CA6010363	346	S>I		No	ClinGen ExAC gnomAD
rs1274163750 CA380725388	351	D>N		No	ClinGen gnomAD
CA6010364 rs751188226	354	R>C		No	ClinGen ExAC gnomAD
COSM928710 COSM1354829 rs754613241 CA6010365	354	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs754613241 CA6010366	354	R>L		No	ClinGen ExAC gnomAD
CA223096064 rs891891372	357	G>E		No	ClinGen TOPMed
CA380725489 rs1203192441	360	P>L		No	ClinGen gnomAD
rs1361441878 CA380725487	360	P>S		No	ClinGen TOPMed gnomAD
rs1555057567 CA380725524 RCV000627330	363	W>*		No	ClinGen ClinVar Ensembl dbSNP
rs200424164 CA6010370	364	R>S		No	ClinGen 1000Genomes ExAC gnomAD
rs61754545 CA6010373	369	P>S		No	ClinGen ExAC TOPMed gnomAD
rs768894021 CA380725636	372	I>M		No	ClinGen ExAC TOPMed gnomAD
COSM1202609 COSM1202610 rs376151780 CA6010376	373	A>T	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs765229569 CA6010377	373	A>V		No	ClinGen ExAC gnomAD
CA6010378 rs773141675	378	R>C		No	ClinGen ExAC TOPMed gnomAD
CA6010379 rs762821830	378	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1417155638 CA380725737	382	V>I		No	ClinGen gnomAD
rs751036815 CA6010381	384	S>A		No	ClinGen ExAC gnomAD
CA6010382 rs754624351	384	S>F		No	ClinGen ExAC gnomAD
rs754209496 CA6010384	385	N>D		No	ClinGen ExAC gnomAD
CA6010385 rs757691006	385	N>S		No	ClinGen ExAC gnomAD
TCGA novel	394	C>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	394	C>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6010388 rs533993840	396	R>C		No	ClinGen 1000Genomes ExAC gnomAD
rs1565352153 CA380725903	396	R>H		No	ClinGen Ensembl
rs367896892 CA6010390 COSM1509093 COSM1509092	397	N>S	lung [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs1419858664 COSM3953437 CA380725934 COSM3953436	399	K>Q	lung [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA380725982 rs1378535029	402	T>S		No	ClinGen TOPMed gnomAD
CA380726012 rs1241834010	405	R>Q		No	ClinGen TOPMed
CA380726010 rs1565352334	405	R>W		No	ClinGen Ensembl
rs1446212395 CA380726077	411	P>S		No	ClinGen gnomAD
rs1157196926 CA380726186	421	K>E		No	ClinGen gnomAD
rs1306493621 CA380726198	422	K>E		No	ClinGen TOPMed
TCGA novel	422	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6010396 rs762912441	423	E>D		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	423	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs770867646 CA6010397	425	H>N		No	ClinGen ExAC gnomAD
CA6010398 rs770867646	425	H>Y		No	ClinGen ExAC gnomAD
CA380726250 rs1349348241	426	L>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA380726248 rs1349348241	426	L>V		No	ClinGen TOPMed gnomAD
CA6010400 rs767138391	431	A>V		No	ClinGen ExAC TOPMed gnomAD
CA6010401 rs752398112	432	L>V		No	ClinGen ExAC gnomAD
CA6010402 rs760344044	436	S>A		No	ClinGen ExAC gnomAD
TCGA novel	436	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs371034991 CA6010404	439	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs759024257 CA6010405	439	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA380726411 rs1455613943	440	D>E		No	ClinGen gnomAD
rs1236585108 CA380726408	440	D>G		No	ClinGen TOPMed gnomAD
rs1424612732 CA380726475	446	A>S		No	ClinGen gnomAD
TCGA novel	447	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	449	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1413235209 CA380726537	451	D>H		No	ClinGen gnomAD
CA6010406 rs780597185	455	A>S		No	ClinGen ExAC TOPMed gnomAD
CA380726591 rs1355468135	456	L>F		No	ClinGen gnomAD
rs775746543 CA223096276	457	V>A		No	ClinGen Ensembl
rs751657184 CA6010407	461	R>L		No	ClinGen ExAC gnomAD
COSM1585812 COSM928715 rs751657184 CA380726637	461	R>Q	Variant assessed as Somatic; 0.0 impact. endometrium breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs755094282 CA6010408	463	A>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs11570199 VAR_020930 RCV000968214 CA6010409	464	R>C		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs11570199 CA6010410	464	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs763306444 COSM1739820 COSM1739821 CA223096300	464	R>H	Variant assessed as Somatic; 0.0 impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs1383521319 CA380726680	465	D>V		No	ClinGen TOPMed
CA380726689 COSM1628085 COSM1628086 rs1273695546	466	M>V	liver [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1163036613 CA380726702	467	D>N		No	ClinGen TOPMed
rs769966903 CA6010411	469	T>A		No	ClinGen ExAC TOPMed gnomAD
CA6010412 rs777580736	470	E>K		No	ClinGen ExAC gnomAD
TCGA novel	470	E>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1175792150 CA380726773	473	T>I		No	ClinGen TOPMed
CA223097096 rs945863991	475	T>A		No	ClinGen TOPMed
CA6010438 rs368949463	475	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs765101443 CA6010441	482	H>R		No	ClinGen ExAC gnomAD
CA6010442 rs766792111	483	D>H		No	ClinGen ExAC gnomAD
CA380727020 rs1180281006	486	K>E		No	ClinGen gnomAD
rs1243805687 CA380727085	491	D>A		No	ClinGen gnomAD
CA6010443 rs774544152	491	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs188683827 CA6010445	496	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	497	L>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6010446 rs139640030	498	T>A		No	ClinGen 1000Genomes ExAC gnomAD
rs1363625790 CA380727153	498	T>I		No	ClinGen TOPMed gnomAD
CA380727196 rs1488035484	503	I>V		No	ClinGen gnomAD
TCGA novel	505	H>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs756180230 CA6010447	505	H>R		No	ClinGen ExAC gnomAD
rs1260232759 CA380727225	506	S>A		No	ClinGen TOPMed gnomAD
rs1367138525 CA380727269	510	R>P		No	ClinGen gnomAD
rs371477627 CA6010449	510	R>W		No	ClinGen ExAC gnomAD
rs199990235 CA6010450 RCV000898586	513	N>D		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1158948087 CA380727326	516	C>Y		No	ClinGen gnomAD
rs181249834 CA6010452	519	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
COSM1354841 COSM1354840 CA6010453 rs758420026	519	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs11229137 CA380727370	520	H>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6010456 rs768296530	521	I>T		No	ClinGen ExAC gnomAD
rs566090729 CA6010455	521	I>V		No	ClinGen 1000Genomes ExAC gnomAD
CA380727381 rs1310277227	522	E>K		No	ClinGen gnomAD
rs776235902 CA6010457	524	E>V		No	ClinGen ExAC TOPMed gnomAD
rs747868784 CA6010458	525	S>L		No	ClinGen ExAC gnomAD
rs998607508 CA223097183	525	S>P		No	ClinGen TOPMed
CA380727431 rs1200428193	527	L>V		No	ClinGen gnomAD
TCGA novel	528	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA380727446 rs1389674139	529	N>D		No	ClinGen gnomAD
rs1021983536 CA223097195	531	A>V		No	ClinGen Ensembl
TCGA novel	533	C>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA380727493 rs1178806559	534	L>V		No	ClinGen gnomAD
rs746969374 CA6010472	539	S>P		No	ClinGen ExAC gnomAD
CA380727607 rs1199698511	540	E>K		No	ClinGen gnomAD
CA223097638 rs1027580511	541	R>S		No	ClinGen Ensembl
CA223097640 rs933863439	545	R>P		No	ClinGen TOPMed gnomAD
CA6010474 rs552330982	546	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs370211216 CA6010473	546	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs777282942 CA6010477	549	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA6010476 rs769540092	549	R>W		No	ClinGen ExAC gnomAD
rs1465900749 CA380727720	550	E>G		No	ClinGen gnomAD
CA6010478 rs748901736	552	D>N		No	ClinGen ExAC gnomAD
CA6010479 rs772435976	553	G>S		No	ClinGen ExAC gnomAD
CA380727804 rs1464259622	557	A>V		No	ClinGen gnomAD
rs200199564 CA6010481	559	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	561	I>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs776366066 CA223097666	562	V>I		No	ClinGen Ensembl
rs1038380278 CA223097675	566	I>T		No	ClinGen TOPMed gnomAD
CA380727929 rs1290327155	568	Q>R		No	ClinGen TOPMed
CA6010482 rs769120408	572	D>H		No	ClinGen ExAC TOPMed gnomAD
CA380728720 rs1438856503	576	V>I		No	ClinGen gnomAD
rs770529456 CA6010500	579	C>S		No	ClinGen ExAC gnomAD
rs770529456 CA6010501	579	C>Y		No	ClinGen ExAC gnomAD
CA380728775 rs1486500759	584	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA380728785 rs1182263191	585	N>K		No	ClinGen gnomAD
rs1280318957 CA380728798	587	S>L		No	ClinGen TOPMed
CA380728793 rs1310925055	587	S>T		No	ClinGen TOPMed
TCGA novel	588	Y>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1007964888 COSM1354847 COSM1354846 CA223098420	592	R>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs747352352 CA6010502	592	R>W		No	ClinGen ExAC TOPMed gnomAD
CA380728837 rs1382181566	593	E>G		No	ClinGen gnomAD
rs1381259527 CA380728861	597	A>T		No	ClinGen TOPMed
CA6010503 rs769218651	597	A>V		No	ClinGen ExAC gnomAD
rs1362284645 CA380728870	598	E>G		No	ClinGen TOPMed
CA380728876 rs1290084080	599	R>C		No	ClinGen TOPMed
CA6010504 rs777009146	599	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA380728888 rs1359222313	601	Q>E		No	ClinGen TOPMed gnomAD
CA6010506 rs769787022	601	Q>H		No	ClinGen ExAC gnomAD
rs762325579 CA6010505	601	Q>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	603	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6010507 rs370265514	603	A>V		No	ClinGen ESP ExAC gnomAD
CA223098441 rs373057355	605	P>L		No	ClinGen ESP
rs1203876147 CA380728921	606	N>S		No	ClinGen TOPMed gnomAD
CA380728935 rs1238818682	608	A>G		No	ClinGen gnomAD
CA380728936 rs1238818682	608	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs766690581 CA6010509	609	N>D		No	ClinGen ExAC TOPMed gnomAD
CA6010510 rs751462733	609	N>S		No	ClinGen ExAC gnomAD
rs759397042 CA6010511	610	N>D		No	ClinGen ExAC TOPMed gnomAD
CA6010512 rs767272659	610	N>S		No	ClinGen ExAC TOPMed gnomAD
CA380728950 rs1482158526	611	T>A		No	ClinGen gnomAD
rs752587489 CA6010513	611	T>S		No	ClinGen ExAC gnomAD
rs377568553 CA6010515	613	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1178069961 CA380728969	614	H>R		No	ClinGen gnomAD
CA6010516 rs753314482	615	A>T		No	ClinGen ExAC gnomAD
CA6010517 rs756952348	617	S>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs962112561 CA223098459	617	S>I		No	ClinGen gnomAD
CA380729012 rs1358879109	621	A>T		No	ClinGen gnomAD
rs1464869223 CA380729019	622	K>E		No	ClinGen gnomAD
CA380729039 rs1332896698	624	G>V		No	ClinGen gnomAD
CA6010518 rs574852656	625	K>R		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	625	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6010529 rs200943999 COSM3687393	626	D>E	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA380729047 rs1445631082	626	D>N		No	ClinGen gnomAD
rs1290130304 CA380729065	627	E>K		No	ClinGen TOPMed gnomAD
rs372312508 CA223098723	631	R>G		No	ClinGen gnomAD
CA380729098 rs1436604487	631	R>T		No	ClinGen gnomAD
CA380729121 rs1206415367	633	K>E		No	ClinGen TOPMed
rs771144258 CA6010546	633	K>R		No	ClinGen ExAC gnomAD
rs774520380 CA6010547	635	P>H		No	ClinGen ExAC gnomAD
CA380729137 rs1357454914	635	P>S		No	ClinGen TOPMed gnomAD
CA380729144 rs1488147238	636	I>T		No	ClinGen gnomAD
rs1264563956 CA380729141	636	I>V		No	ClinGen TOPMed gnomAD
CA380729167 rs1239634217	639	P>L		No	ClinGen gnomAD
rs746105648 CA6010548	639	P>S		No	ClinGen ExAC gnomAD
rs1013433897 CA223098986	640	A>V		No	ClinGen TOPMed gnomAD
rs772304625 CA6010549	641	N>D		No	ClinGen ExAC gnomAD
rs1159127086 CA380729185	642	D>E		No	ClinGen gnomAD
rs775196396 CA6010550	642	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA6010551 rs760504972	644	V>A		No	ClinGen ExAC gnomAD
CA380729198 rs1398112748	645	D>N		No	ClinGen gnomAD
rs764005200 CA6010552	646	F>I		No	ClinGen ExAC gnomAD
CA380729218 rs1340900779	647	P>L		No	ClinGen gnomAD
TCGA novel	649	R>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs966371160 CA223099020	649	R>T		No	ClinGen TOPMed gnomAD
CA380729236 rs201906477	650	T>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs201906477 CA6010553	650	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs764759932 CA6010555	651	S>N		No	ClinGen ExAC gnomAD
CA380729262 rs1353592302	655	G>S		No	ClinGen gnomAD
CA6010568 rs201501642	656	Y>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	660	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA223099720 rs950943935	660	F>Y		No	ClinGen Ensembl
COSM1585807 CA380729350 rs1458798023 COSM928721	666	R>Q	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA6010569 rs747132876	666	R>W		No	ClinGen ExAC gnomAD
CA6010570 rs768462030	669	I>V		No	ClinGen ExAC gnomAD
TCGA novel	671	L>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	672	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs776372397 CA6010571	673	K>E		No	ClinGen ExAC gnomAD
rs985359926 CA223099747	674	E>K		No	ClinGen Ensembl
CA6010572 rs190500684	676	K>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA380729426 rs1200835100	677	T>I		No	ClinGen gnomAD
CA380729423 rs1591638719	677	T>P		No	ClinGen Ensembl
rs769699844 CA6010573	679	A>V		No	ClinGen ExAC gnomAD
rs959579821 CA223099753	682	E>Q		No	ClinGen Ensembl
CA380729487 rs1173967589	688	I>L		No	ClinGen gnomAD
CA380729488 rs1173967589	688	I>V		No	ClinGen gnomAD
TCGA novel	689	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs990780982 CA223099771	692	C>G		No	ClinGen TOPMed
rs990780982 CA223099760	692	C>R		No	ClinGen TOPMed
CA380729531 rs1467378238	694	G>R		No	ClinGen gnomAD
rs1332305542 CA380729537	695	R>C		No	ClinGen gnomAD
rs765744713 CA6010576	695	R>H		No	ClinGen ExAC gnomAD
rs375895119 CA6010577	697	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1401011008 CA380729570	698	Y>C		No	ClinGen gnomAD
rs1277132301 CA380729579	700	R>G		No	ClinGen gnomAD
rs754310281 CA6010597	700	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs377391701 CA6010599	703	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA6010600 rs750954167	703	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA223099884 rs377391701	703	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA223099885 rs1054020912	704	S>F		No	ClinGen TOPMed
CA6010601 rs758791331	705	A>T		No	ClinGen ExAC TOPMed gnomAD
CA380729615 rs1265277877	706	L>P		No	ClinGen gnomAD
CA6010602 rs200948871	707	R>C		No	ClinGen 1000Genomes ESP ExAC gnomAD
CA6010603 rs373664724	707	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs755248569 CA6010604	710	K>T		No	ClinGen ExAC gnomAD
CA380729657 rs1426947054	713	S>P		No	ClinGen gnomAD
CA380729664 rs1167253467	714	A>P		No	ClinGen gnomAD
rs897914141 CA223099908	715	I>L		No	ClinGen TOPMed gnomAD
rs897914141 CA380729670	715	I>V		No	ClinGen TOPMed gnomAD
CA380729680 rs1424110454	716	A>V		No	ClinGen gnomAD
rs781385866 CA6010605 COSM1585848 COSM928724	720	T>A	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs942554643 CA223099925	720	T>N		No	ClinGen TOPMed gnomAD
rs748299287 CA6010606	721	N>D		No	ClinGen ExAC TOPMed gnomAD
CA6010607 rs755912714	722	E>K		No	ClinGen ExAC gnomAD
rs1236770044 CA380729722	723	H>R		No	ClinGen TOPMed
CA223099964 rs900812047	725	R>Q		No	ClinGen TOPMed
CA6010608 rs199570555	725	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs749282566 CA6010610	726	V>L		No	ClinGen ExAC gnomAD
rs749282566 CA6010609	726	V>M		No	ClinGen ExAC gnomAD
CA6010611 rs773963261	727	V>M		No	ClinGen ExAC gnomAD
CA6010612 rs745360456	728	K>R		No	ClinGen ExAC gnomAD
rs1287594286 CA380729757	729	A>V		No	ClinGen gnomAD
rs775287236 CA6010614	735	R>G		No	ClinGen ExAC gnomAD
rs1452684893 CA380729805	737	L>P		No	ClinGen TOPMed gnomAD
CA6010617 rs375032591	738	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs752805578 CA6010620	742	R>C		No	ClinGen ExAC TOPMed gnomAD
rs201606412 CA6010621	742	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
COSM1139816 COSM543873 CA6010622 rs201606412	742	R>L	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	743	N>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA380729839 rs1159028303	743	N>S		No	ClinGen gnomAD
rs1449866974 CA380729847	744	K>R		No	ClinGen gnomAD
CA6010623 rs752934200	745	E>V		No	ClinGen ExAC gnomAD
TCGA novel	747	I>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1467897054 CA380729894	749	K>R		No	ClinGen gnomAD
CA223100478 rs1055975523	750	H>R		No	ClinGen TOPMed
rs774849603 CA6010639	752	I>V		No	ClinGen ExAC gnomAD
CA223100493 rs377685669	754	N>D		No	ClinGen TOPMed gnomAD
TCGA novel	755	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA223100498 COSM280212 rs894225352	757	K>N	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated Ensembl NCI-TCGA
rs1437071960 CA380729956	758	N>K		No	ClinGen TOPMed
rs767619283 CA6010641	760	P>S		No	ClinGen ExAC gnomAD
CA6010642 rs752746113	764	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs1000163245 CA223100515	765	N>S		No	ClinGen TOPMed
rs1242547014 CA380730007	766	S>F		No	ClinGen gnomAD
CA6010643 rs761009859	767	S>P		No	ClinGen ExAC TOPMed gnomAD
rs1260265577 CA380730023	769	N>D		No	ClinGen gnomAD
rs764212158 CA380730050	772	E>D		No	ClinGen ExAC TOPMed gnomAD
rs201083871 CA6010645	774	T>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1231303337 CA380730063	774	T>S		No	ClinGen gnomAD
CA380730067 rs1489747379	775	V>F		No	ClinGen gnomAD
CA380730073 rs1190749521	776	I>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA6010646 rs757009169	778	I>V		No	ClinGen ExAC gnomAD
rs1271606077 CA380730090	779	L>M		No	ClinGen TOPMed
CA380730111 rs374424497	782	I>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6010649 rs374424497	782	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs376663871 CA6010650	783	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1351186298 CA380730130	784	E>D		No	ClinGen TOPMed gnomAD
rs768419889 CA6010652	784	E>K		No	ClinGen ExAC gnomAD
rs780710869 CA6010653	785	V>F		No	ClinGen ExAC gnomAD
CA6010656 rs771218774	787	A>S		No	ClinGen ExAC TOPMed gnomAD
CA6010655 COSM928725 COSM1585846 rs771218774	787	A>T	Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs760081165 CA6010657	793	A>T		No	ClinGen ExAC gnomAD
CA6010658 rs368743229	794	K>E		No	ClinGen ESP ExAC gnomAD
rs199862272 CA6010659	794	K>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	795	K>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs760669480 CA6010660	796	L>F		No	ClinGen ExAC gnomAD
CA6010662 rs373099155	797	R>Q		No	ClinGen ESP ExAC gnomAD
rs1467843484 CA380730218	798	E>D		No	ClinGen gnomAD
rs1399348855 CA380730216	798	E>G		No	ClinGen TOPMed
rs200568477 CA6010663	800	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA6010664 rs765155573	801	G>D		No	ClinGen ExAC gnomAD
CA380730233 rs1489949285	801	G>S		No	ClinGen gnomAD
rs765155573 CA380730237	801	G>V		No	ClinGen ExAC gnomAD
rs369319240 CA223100589	802	I>F		No	ClinGen ESP TOPMed
rs1264405638 CA380730252	804	K>Q		No	ClinGen gnomAD
TCGA novel	808	I>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA223100591 rs776458506	809	N>I		No	ClinGen TOPMed gnomAD
CA380730289 rs776458506	809	N>S		No	ClinGen TOPMed gnomAD
rs750221486 CA6010665	812	G>R		No	ClinGen ExAC gnomAD
rs1203727769 CA380815657	813	N>H		No	ClinGen gnomAD
TCGA novel	813	N>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1203727769 CA380815659	813	N>Y		No	ClinGen gnomAD
CA222808597 rs567503673	814	R>C		No	ClinGen 1000Genomes TOPMed gnomAD
CA380815666 rs567503673	814	R>G		No	ClinGen 1000Genomes TOPMed gnomAD
COSM1585845 CA6010686 rs376382187 COSM928726	814	R>H	endometrium [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA380815668 rs376382187	814	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1178441416 CA380815679	816	E>G		No	ClinGen TOPMed
CA222808602 rs538240234	817	K>E		No	ClinGen 1000Genomes
CA6010687 rs751470749	818	E>G		No	ClinGen ExAC gnomAD
CA380815705 rs1458722733	820	R>Q		No	ClinGen gnomAD
rs1182374726 CA380815713	821	A>V		No	ClinGen gnomAD
rs556628331 CA6010689	825	V>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA222808619 rs556628331	825	V>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1193702142 CA380815753	828	T>A		No	ClinGen TOPMed
rs571948794 CA6010691	829	I>V		No	ClinGen 1000Genomes ExAC gnomAD
CA6010692 rs777401687	832	Y>H		No	ClinGen ExAC gnomAD
CA6010695 rs748875677	836	R>G		No	ClinGen ExAC TOPMed gnomAD
CA6010696 rs747502652	836	R>Q		No	ClinGen ExAC gnomAD
rs748875677 CA6010693	836	R>W		No	ClinGen ExAC TOPMed gnomAD
rs539361096 CA6010699	842	E>D		No	ClinGen 1000Genomes ExAC gnomAD
CA380815847 rs1237603008	842	E>G		No	ClinGen gnomAD
TCGA novel	850	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6010700 rs370186968	850	Q>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA380815950 rs1292452909	855	N>D		No	ClinGen gnomAD
CA380815953 rs1490178720	855	N>S		No	ClinGen gnomAD
rs1196994038 CA380815971	858	R>Q		No	ClinGen TOPMed gnomAD
TCGA novel	865	Y>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA380816023 rs1430518896	865	Y>C		No	ClinGen gnomAD
CA6010722 rs748606840	865	Y>H		No	ClinGen ExAC gnomAD
CA6010723 rs770012838	868	S>G		No	ClinGen ExAC gnomAD
rs368066009 CA380816078	873	I>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA6010726 rs368066009	873	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA380816089 rs1364603017	875	R>Q		No	ClinGen gnomAD
rs144978541 CA6010727	875	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6010728 rs759375143	876	N>I		No	ClinGen ExAC gnomAD
TCGA novel	879	S>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA222809145 rs750790386	879	S>P		No	ClinGen TOPMed
rs750790386 CA222809142	879	S>T		No	ClinGen TOPMed
CA6010737 rs749976051	880	D>G		No	ClinGen ExAC TOPMed gnomAD
RCV000967204 rs80355324 CA6010738	881	K>T		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1203065134 CA380816150	882	K>Q		No	ClinGen TOPMed
rs781361751 CA6010739	883	P>H		No	ClinGen ExAC gnomAD
rs369783710 CA380816171	885	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs371654993 CA6010741	885	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6010740 rs369783710	885	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA6010743 rs749370082	886	E>A		No	ClinGen ExAC gnomAD
TCGA novel rs771128922 CA6010744	890	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC gnomAD NCI-TCGA
CA222809800 rs763671572	890	M>L		No	ClinGen Ensembl
rs1591706731 CA380816211	891	S>R		No	ClinGen Ensembl
rs181230846 CA6010745	892	N>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs771924527 CA6010747	896	N>K		No	ClinGen ExAC gnomAD
rs1429740950 CA380816261	898	K>E		No	ClinGen gnomAD
rs1565383645 CA380816264	898	K>R		No	ClinGen Ensembl
rs1376845390 CA380816273	899	S>L		No	ClinGen TOPMed
rs1305831445 CA380816277	900	L>P		No	ClinGen TOPMed
CA380816298 rs1201831387	901	D>E		No	ClinGen gnomAD
rs753442622 CA222810010	901	D>G		No	ClinGen Ensembl
rs1234734809 CA380816300	902	N>D		No	ClinGen gnomAD
CA6010762 rs200768776	905	S>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6010763 rs200768776	905	S>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1331909729 CA380816328	906	T>A		No	ClinGen gnomAD
CA222810012 rs372668592	906	T>I		No	ClinGen Ensembl
rs754334621 CA6010765	909	E>D		No	ClinGen ExAC TOPMed gnomAD
rs778423432 CA6010764	909	E>K		No	ClinGen ExAC gnomAD
TCGA novel	910	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA222810014 rs373817399	912	D>H		No	ClinGen ESP
CA380816373 rs1409231782	913	H>D		No	ClinGen TOPMed
CA6010766 rs757374614	914	N>S		No	ClinGen ExAC TOPMed gnomAD
VAR_020931 CA6010767 rs11570222	915	R>K		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs370601389 CA222810015	916	T>A		No	ClinGen ESP TOPMed gnomAD
CA6010768 rs746134245	917	L>M		No	ClinGen ExAC gnomAD
rs1187557319 CA380816404	918	D>V		No	ClinGen TOPMed
CA6010769 rs374639119	918	D>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs1347106390 CA380816410	919	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs779873488 CA6010770	919	R>Q		No	ClinGen ExAC gnomAD
rs770230006 CA6010771	920	S>L		No	ClinGen ExAC TOPMed gnomAD
rs770230006 CA380816417	920	S>W		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	921	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	922	D>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA380816426 rs1202545291	922	D>Y		No	ClinGen TOPMed
rs776562732 CA6010773	924	G>D		No	ClinGen ExAC gnomAD
COSM299161 CA380816442 rs1204386527 COSM1152370	925	D>N	Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs375476305 CA6010775	926	M>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1290252635 CA380816500	933	T>A		No	ClinGen gnomAD
CA6010776 rs199976547	933	T>I		No	ClinGen ExAC TOPMed gnomAD
rs200592962 CA222810020 CA6010777	936	M>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs763409650 COSM1585842 COSM928730 CA6010824	939	E>K	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1445078539 CA380816566	941	Q>E		No	ClinGen gnomAD
CA222810082 rs1025483892	942	E>K		No	ClinGen gnomAD
rs752894716 CA6010829	945	E>*		No	ClinGen ExAC TOPMed gnomAD
CA6010830 rs562563113	946	E>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6010832 rs753754249	951	L>F		No	ClinGen ExAC gnomAD
CA380816659 rs1232031631	954	D>E		No	ClinGen TOPMed gnomAD
CA380816657 rs1170126299	954	D>G		No	ClinGen TOPMed
rs1264856844 CA380816662	955	D>H		No	ClinGen TOPMed
CA222810088 rs778615503 CA6010835	956	E>D		No	ClinGen ExAC TOPMed gnomAD
rs373135074 CA6010836	957	G>R		No	ClinGen ESP ExAC gnomAD
rs771918798 CA6010837	958	G>D		No	ClinGen ExAC TOPMed gnomAD
rs1172054316 CA380816689	959	Q>R		No	ClinGen gnomAD
CA380816706 rs1400165895	961	S>F		No	ClinGen gnomAD
CA380816762 rs1403888918	967	K>R		No	ClinGen gnomAD

1 associated diseases with O60716

[MIM: 617681]: Blepharocheilodontic syndrome 2 (BCDS2)

A form of blepharocheilodontic syndrome, a rare autosomal dominant disorder. It is characterized by lower eyelid ectropion, upper eyelid distichiasis, euryblepharon, bilateral cleft lip and palate, and features of ectodermal dysplasia, including hair anomalies, conical teeth and tooth agenesis. An additional rare manifestation is imperforate anus. There is considerable phenotypic variability among affected individuals. {ECO:0000269|PubMed:28301459}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

A form of blepharocheilodontic syndrome, a rare autosomal dominant disorder. It is characterized by lower eyelid ectropion, upper eyelid distichiasis, euryblepharon, bilateral cleft lip and palate, and features of ectodermal dysplasia, including hair anomalies, conical teeth and tooth agenesis. An additional rare manifestation is imperforate anus. There is considerable phenotypic variability among affected individuals. {ECO:0000269|PubMed:28301459}. Note=The disease is caused by variants affecting the gene represented in this entry.

5 regional properties for O60716

Type	Name	Position	InterPro Accession
repeat	Armadillo	397 - 539	IPR000225-1
repeat	Armadillo	541 - 588	IPR000225-2
repeat	Armadillo	651 - 693	IPR000225-3
repeat	Armadillo	699 - 747	IPR000225-4
repeat	Armadillo	789 - 831	IPR000225-5

Functions

		Description
EC Number
Subcellular Localization	Cell junction, adherens junction Cytoplasm Nucleus Cell membrane	Interaction with GLIS2 promotes nuclear translocation (By similarity) Detected at cell-cell contacts (PubMed:15240885, PubMed:17047063) NANOS1 induces its translocation from sites of cell-cell contact to the cytoplasm (PubMed:17047063) CDH1 enhances cell membrane localization (PubMed:15240885) Isoforms 4A and 1AB are excluded from the nucleus (PubMed:11896187)
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

18 GO annotations of cellular component

Name	Definition
adherens junction	A cell-cell junction composed of the epithelial cadherin-catenin complex. The epithelial cadherins, or E-cadherins, of each interacting cell extend through the plasma membrane into the extracellular space and bind to each other. The E-cadherins bind to catenins on the cytoplasmic side of the membrane, where the E-cadherin-catenin complex binds to cytoskeletal components and regulatory and signaling molecules.
catenin complex	Complex of peripheral cytoplasmic proteins (alpha-, beta- and gamma-catenin) that interact with the cytoplasmic region of uvomorulin/E-cadherin to connect it to the actin cytoskeleton.
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.
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
dendritic spine	A small, membranous protrusion from a dendrite that forms a postsynaptic compartment, typically receiving input from a single presynapse. They function as partially isolated biochemical and an electrical compartments. Spine morphology is variable:they can be thin, stubby, mushroom, or branched, with a continuum of intermediate morphologies. They typically terminate in a bulb shape, linked to the dendritic shaft by a restriction. Spine remodeling is though to be involved in synaptic plasticity.
extracellular exosome	A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm.
glutamatergic synapse	A synapse that uses glutamate as a neurotransmitter.
growth cone	The migrating motile tip of a growing neuron projection, where actin accumulates, and the actin cytoskeleton is the most dynamic.
hippocampal mossy fiber to CA3 synapse	One of the giant synapses that form between the mossy fiber axons of dentate gyrus granule cells and the large complex spines of CA3 pyramidal cells. It consists of a giant bouton known as the mossy fiber expansion, synapsed to the complex, multiheaded spine (thorny excresence) of a CA3 pyramidal cell.
lamellipodium	A thin sheetlike process extended by the leading edge of a migrating cell or extending cell process; contains a dense meshwork of actin filaments.
midbody	A thin cytoplasmic bridge formed between daughter cells at the end of cytokinesis. The midbody forms where the contractile ring constricts, and may persist for some time before finally breaking to complete cytokinesis.
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.
postsynaptic density, intracellular component	A network of proteins adjacent to the postsynaptic membrane forming an electron dense disc. Its major components include neurotransmitter receptors and the proteins that spatially and functionally organize neurotransmitter receptors in the adjacent membrane, such as anchoring and scaffolding molecules, signaling enzymes and cytoskeletal components.
presynaptic active zone cytoplasmic component	A specialized region below the presynaptic membrane, characterized by electron-dense material, a specialized cytoskeletal matrix and accumulated (associated) synaptic vesicles.
Schaffer collateral - CA1 synapse	A synapse between the Schaffer collateral axon of a CA3 pyramidal cell and a CA1 pyramidal cell.
zonula adherens	A cell-cell adherens junction which forms a continuous belt near the apex of epithelial cells.

4 GO annotations of molecular function

Name	Definition
beta-catenin binding	Binding to a catenin beta subunit.
cadherin binding	Binding to cadherin, a type I membrane protein involved in cell adhesion.
protein tyrosine kinase binding	Binding to protein tyrosine kinase.
signaling receptor binding	Binding to one or more specific sites on a receptor molecule, a macromolecule that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function.

8 GO annotations of biological process

Name	Definition
brain development	The process whose specific outcome is the progression of the brain over time, from its formation to the mature structure. Brain development begins with patterning events in the neural tube and ends with the mature structure that is the center of thought and emotion. The brain is responsible for the coordination and control of bodily activities and the interpretation of information from the senses (sight, hearing, smell, etc.).
cell-cell adhesion	The attachment of one cell to another cell via adhesion molecules.
cell-cell adhesion mediated by cadherin	The attachment of one cell to another cell via a cadherin, transmembrane proteins having repeating extracellular calcium ion binding domains.
cell-cell junction assembly	The aggregation, arrangement and bonding together of a set of components to form a junction between cells.
negative regulation of canonical Wnt signaling pathway	Any process that decreases 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.
protein stabilization	Any process involved in maintaining the structure and integrity of a protein and preventing it from degradation or aggregation.
regulation of postsynaptic membrane neurotransmitter receptor levels	Any process that regulates the the local concentration of neurotransmitter receptor at the postsynaptic membrane.
Wnt signaling pathway	The series of molecular signals initiated by binding of a Wnt protein to a frizzled family receptor on the surface of the target cell and ending with a change in cell state.

1 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
O00192	ARVCF	Splicing regulator ARVCF	Homo sapiens (Human)	PR

10	20	30	40	50	60
MDDSEVESTA	SILASVKEQE	AQFEKLTRAL	EEERRHVSAQ	LERVRVSPQD	ANPLMANGTL
70	80	90	100	110	120
TRRHQNGRFV	GDADLERQKF	SDLKLNGPQD	HSHLLYSTIP	RMQEPGQIVE	TYTEEDPEGA
130	140	150	160	170	180
MSVVSVETSD	DGTTRRTETT	VKKVVKTVTT	RTVQPVAMGP	DGLPVDASSV	SNNYIQTLGR
190	200	210	220	230	240
DFRKNGNGGP	GPYVGQAGTA	TLPRNFHYPP	DGYSRHYEDG	YPGGSDNYGS	LSRVTRIEER
250	260	270	280	290	300
YRPSMEGYRA	PSRQDVYGPQ	PQVRVGGSSV	DLHRFHPEPY	GLEDDQRSMG	YDDLDYGMMS
310	320	330	340	350	360
DYGTARRTGT	PSDPRRRLRS	YEDMIGEEVP	SDQYYWAPLA	QHERGSLASL	DSLRKGGPPP
370	380	390	400	410	420
PNWRQPELPE	VIAMLGFRLD	AVKSNAAAYL	QHLCYRNDKV	KTDVRKLKGI	PVLVGLLDHP
430	440	450	460	470	480
KKEVHLGACG	ALKNISFGRD	QDNKIAIKNC	DGVPALVRLL	RKARDMDLTE	VITGTLWNLS
490	500	510	520	530	540
SHDSIKMEIV	DHALHALTDE	VIIPHSGWER	EPNEDCKPRH	IEWESVLTNT	AGCLRNVSSE
550	560	570	580	590	600
RSEARRKLRE	CDGLVDALIF	IVQAEIGQKD	SDSKLVENCV	CLLRNLSYQV	HREIPQAERY
610	620	630	640	650	660
QEAAPNVANN	TGPHAASCFG	AKKGKDEWFS	RGKKPIEDPA	NDTVDFPKRT	SPARGYELLF
670	680	690	700	710	720
QPEVVRIYIS	LLKESKTPAI	LEASAGAIQN	LCAGRWTYGR	YIRSALRQEK	ALSAIADLLT
730	740	750	760	770	780
NEHERVVKAA	SGALRNLAVD	ARNKELIGKH	AIPNLVKNLP	GGQQNSSWNF	SEDTVISILN
790	800	810	820	830	840
TINEVIAENL	EAAKKLRETQ	GIEKLVLINK	SGNRSEKEVR	AAALVLQTIW	GYKELRKPLE
850	860	870	880	890	900
KEGWKKSDFQ	VNLNNASRSQ	SSHSYDDSTL	PLIDRNQKSD	KKPDREEIQM	SNMGSNTKSL
910	920	930	940	950	960
DNNYSTPNER	GDHNRTLDRS	GDLGDMEPLK	GTTPLMQDEG	QESLEEELDV	LVLDDEGGQV

SYPSMQKI