AiPD: Autoinhibited Protein Database

Q8N4S9

Gene name	MARVELD2
Protein name	MARVEL domain-containing protein 2
Names	Tricellulin
Species	Homo sapiens (Human)
KEGG Pathway	hsa:153562
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-61 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-61 (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

4 structures for Q8N4S9

Entry ID	Method	Resolution	Chain	Position	Source
5N7H	X-ray	220 A	A	439-551	PDB
5N7I	X-ray	288 A	A/B	439-551	PDB
5N7K	X-ray	281 A	A/B/C/D	439-551	PDB
AF-Q8N4S9-F1	Predicted				AlphaFoldDB

558 variants for Q8N4S9

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA3293951 RCV000403475 rs374313745	13	R>H	Autosomal recessive nonsyndromic hearing loss 49 [ClinVar]	Yes	ESP ExAC TOPMed gnomAD ClinGen ClinVar dbSNP
rs1185246 RCV002054609 CA133019 RCV000036814 VAR_047436 RCV000352210	33	T>I	Autosomal recessive nonsyndromic hearing loss 49 [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA3293966 rs145027254 RCV000603140 RCV000764613	39	R>W	Variant assessed as Somatic; 0.0 impact. Autosomal recessive nonsyndromic hearing loss 49 [NCI-TCGA, ClinVar]	Yes	1000Genomes ESP ExAC TOPMed gnomAD ClinGen ClinVar NCI-TCGA dbSNP
RCV000397767 rs150434290 CA3293991 RCV000725985 RCV000393069	59	P>L	Autosomal recessive nonsyndromic hearing loss 49 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs202188305 RCV001546971 RCV001158248 CA3294009	91	R>S	Autosomal recessive nonsyndromic hearing loss 49 [ClinVar]	Yes	1000Genomes ExAC TOPMed gnomAD ClinGen ClinVar dbSNP
rs140764671 RCV001152768 RCV000964126 RCV000155154 CA182264	122	A>T	Autosomal recessive nonsyndromic hearing loss 49 [ClinVar]	Yes	1000Genomes ESP ExAC TOPMed gnomAD ClinGen ClinVar dbSNP
rs143318841 RCV000597092 RCV002532491 CA3294047	147	R>Q	Variant assessed as Somatic; 0.0 impact. Inborn genetic diseases [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV001861262 rs556047320 RCV000366883 CA3294050	152	A>T	Variant assessed as Somatic; 0.0 impact. Autosomal recessive nonsyndromic hearing loss 49 [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs151176949 CA3294061 RCV000397746	164	R>P	Autosomal recessive nonsyndromic hearing loss 49 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA3294062 rs772742922 RCV000308641	166	T>I	Nonsyndromic Hearing Loss, Recessive [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000363429 RCV000890730 RCV000155155 rs139854607 CA182266	167	Q>R	Autosomal recessive nonsyndromic hearing loss 49 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs146516550 CA3294067 RCV001152769	172	Y>H	Autosomal recessive nonsyndromic hearing loss 49 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC dbSNP gnomAD
rs886060731 CA10620722 RCV000268834	221	W>S	Autosomal recessive nonsyndromic hearing loss 49 [ClinVar]	Yes	Ensembl ClinGen ClinVar dbSNP
CA3294102 RCV001552111 RCV000305297 rs115738510	243	Y>C	Autosomal recessive nonsyndromic hearing loss 49 [ClinVar]	Yes	1000Genomes ESP ExAC TOPMed gnomAD ClinGen ClinVar dbSNP
CA10624884 RCV000360057 rs886060732	248	Y>C	Variant assessed as Somatic; impact. Autosomal recessive nonsyndromic hearing loss 49 [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar Ensembl NCI-TCGA dbSNP
CA3294106 rs141046438 RCV000264790	254	P>A	Autosomal recessive nonsyndromic hearing loss 49 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000276838 COSM302621 rs139234053 CA3294120 RCV001154041	270	I>L	central_nervous_system Autosomal recessive nonsyndromic hearing loss 49 [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001154043 rs1766579334	293	E>Q	Autosomal recessive nonsyndromic hearing loss 49 [ClinVar]	Yes	ClinVar dbSNP
COSM3697300 rs72773422 CA182270 RCV000515431 RCV000155157 RCV000724698	300	L>M	large_intestine Autosomal recessive nonsyndromic hearing loss 49 [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs148416461 RCV001785789 CA3294146 RCV001154044	317	R>Q	Autosomal recessive nonsyndromic hearing loss 49 [ClinVar]	Yes	1000Genomes ESP ExAC TOPMed gnomAD ClinGen ClinVar dbSNP
rs142560436 RCV002523532 CA3294161 RCV002523531 RCV000319869 RCV000825954	345	M>V	Inborn genetic diseases Autosomal recessive nonsyndromic hearing loss 49 [ClinVar]	Yes	ESP ExAC TOPMed gnomAD ClinGen ClinVar dbSNP
rs886060733 CA10622116 RCV000374495	350	V>A	Autosomal recessive nonsyndromic hearing loss 49 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000261150 rs727503158 RCV000151016 CA176720	353	I>M	Nonsyndromic Hearing Loss, Recessive [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs139908851 CA3294166 RCV000316282	367	R>M	Autosomal recessive nonsyndromic hearing loss 49 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001291456 rs1766596437	380	Q>*	Hearing loss, autosomal recessive [ClinVar]	Yes	ClinVar dbSNP
RCV000295194 CA10624889 rs886060734	406	D>N	Autosomal recessive nonsyndromic hearing loss 49 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001291457 rs1561299289 RCV000679820	409	V>missing	Deafness Hearing loss, autosomal recessive [ClinVar]	Yes	ClinVar dbSNP
RCV001154886 rs1766998325	418	K>I	Autosomal recessive nonsyndromic hearing loss 49 [ClinVar]	Yes	ClinVar dbSNP
RCV000151020 RCV002483307 rs727503161 CA176727	487	D>E	Autosomal recessive nonsyndromic hearing loss 49 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV000340798 RCV000156595 CA114831 rs118203957 RCV000714759 RCV001813930	500	R>*	Ear malformation Rare genetic deafness Autosomal recessive nonsyndromic hearing loss 49 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
RCV000593869 rs750561732 RCV002491206 CA3294314	521	T>K	Autosomal recessive nonsyndromic hearing loss 49 [ClinVar]	Yes	ExAC TOPMed gnomAD ClinGen ClinVar dbSNP
CA3294327 RCV000477940 rs199708957	554	V>I	Autosomal recessive nonsyndromic hearing loss 49 [ClinVar]	Yes	ExAC TOPMed gnomAD ClinGen ClinVar dbSNP
CA119990632 TCGA novel rs978969615	2	S>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA TOPMed ClinGen
rs765300957 CA3293941	3	N>D		No	ExAC TOPMed gnomAD ClinGen
CA359921318 rs1163968793	4	D>H		No	ClinGen gnomAD
TCGA novel	4	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs376484431 CA3293942	6	R>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs751155210 CA3293945	9	N>K		No	ClinGen ExAC gnomAD
CA359921383 rs1287017057	9	N>S		No	gnomAD ClinGen
rs1184826517 CA359921379	9	N>Y		No	TOPMed ClinGen
rs200008142 CA3293947	10	R>Q		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs756888886 CA3293946	10	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA3293949 rs112747252	11	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA3293948 rs112747252	11	D>Y		No	ESP ExAC TOPMed gnomAD ClinGen
rs1266822343 CA359921429	12	R>S		No	TOPMed ClinGen
rs199777123 CA3293950	13	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA359921440 rs374313745	13	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA359921466 rs778971496	14	Y>*		No	ExAC TOPMed gnomAD ClinGen
COSM1257350 CA3293953 rs748364395	15	D>N	oesophagus [Cosmic]	No	ExAC TOPMed gnomAD ClinGen cosmic curated
CA3293954 rs772209957	19	S>R		No	ExAC TOPMed gnomAD ClinGen
CA3293956 rs745712719	20	D>N		No	ExAC TOPMed gnomAD ClinGen
rs1268032016 CA359921595	22	P>L		No	ClinGen gnomAD
CA3293958 rs555221544	22	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA119990743 rs888249127	23	Y>C		No	ClinGen Ensembl
CA359921625 rs1294218319	25	D>H		No	ClinGen TOPMed
CA359921661 rs1425313869	26	T>N		No	gnomAD ClinGen
rs1561289313 CA359921677	27	T>I		No	Ensembl ClinGen
CA3293959 rs762986895	28	I>M		No	ClinGen ExAC gnomAD
rs768778743 CA119990745	28	I>V		No	Ensembl ClinGen
rs763656680 CA3293960	29	R>G		No	ClinGen ExAC gnomAD
rs1420158079 CA359921722	30	T>P		No	ClinGen gnomAD
CA3293962 rs761504482	32	P>S		No	ExAC ClinGen
rs1185246	33	T>T		No	1000Genomes ESP ExAC TOPMed gnomAD
CA3293963 rs750796880	34	L>F		No	ClinGen ExAC gnomAD
rs540714945 CA3293964	36	D>N		No	ClinGen 1000Genomes ExAC gnomAD
rs766746155 CA3293965	36	D>V		No	ClinGen ExAC gnomAD
rs145027254 CA359921882	39	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3293967 rs755495483	39	R>Q		No	ExAC gnomAD ClinGen
CA3293970 rs748212061	40	A>S		No	ClinGen ExAC gnomAD
CA3293969 rs748212061	40	A>T		No	ClinGen ExAC gnomAD
rs780599259 CA359921964	43	A>S		No	ExAC TOPMed gnomAD ClinGen
rs780599259 CA3293973	43	A>T		No	ExAC TOPMed gnomAD ClinGen
CA3293976 rs749198352	44	D>G		No	ExAC ClinGen
CA3293974 rs190826169	44	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3293975 rs190826169	44	D>Y		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs1343068181 CA359921999	45	P>L		No	gnomAD ClinGen
rs768754255 CA3293978	45	P>S		No	ExAC gnomAD ClinGen
rs768754255 CA3293977	45	P>T		No	ExAC gnomAD ClinGen
rs1160343058 CA359922062	48	P>T		No	gnomAD ClinGen
TCGA novel rs1432915536 CA359922095	50	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen gnomAD NCI-TCGA
CA359922093 rs1432915536	50	P>R		No	ClinGen gnomAD
rs367912254 CA3293983	52	P>S		No	ESP ExAC TOPMed gnomAD ClinGen
rs754228965 CA3293986	54	Q>*		No	ExAC gnomAD ClinGen
CA359922156 rs1370408210	55	P>R		No	gnomAD ClinGen
rs1255313899 CA359922165	56	P>R		No	ClinGen TOPMed
CA359922163 rs1448225370	56	P>S		No	TOPMed gnomAD ClinGen
CA359922189 rs752821193	58	G>C		No	ExAC TOPMed gnomAD ClinGen
CA3293989 COSM1069742 rs752821193	58	G>S	endometrium Variant assessed as Somatic; 4.621e-05 impact. [Cosmic, NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen cosmic curated NCI-TCGA
CA3293992 rs777924191	60	D>Y		No	ExAC ClinGen
rs531073647 CA3293996	63	S>*		No	1000Genomes ExAC TOPMed gnomAD ClinGen
CA3293995 rs531073647	63	S>L		No	1000Genomes ExAC TOPMed gnomAD ClinGen
CA359922331 rs1351495948	68	E>D		No	gnomAD ClinGen
CA3293997 rs779965722	68	E>G		No	ExAC gnomAD ClinGen
CA3293998 rs549560339	69	P>Q		No	ClinGen 1000Genomes ExAC gnomAD
rs549560339 CA359922338	69	P>R		No	1000Genomes ExAC gnomAD ClinGen
rs1458018629 CA359922342	70	A>T		No	gnomAD ClinGen
COSM131341 RCV001570186 RCV000156762 rs150773481 CA185514	71	I>V	lung liver [Cosmic]	No	1000Genomes ExAC TOPMed gnomAD ClinGen cosmic curated ClinVar dbSNP
rs112938244 CA3293999	72	A>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs112938244 CA3294000	72	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs149622998 CA3294003	74	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA359922412 rs1580470840	76	K>T		No	ClinGen Ensembl
rs1425903559 CA359922457	79	R>S		No	ClinGen gnomAD
rs770606860 COSM271855 CA119991111	80	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs770606860 CA3294004	80	R>G		No	ExAC TOPMed gnomAD ClinGen
rs910487069 CA119991122	80	R>H		No	ClinGen TOPMed gnomAD
TCGA novel	82	V>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA119991123 rs866386377	83	P>T		No	ClinGen Ensembl
rs776953681 CA3294005	87	K>*		No	ClinGen ExAC gnomAD
CA3294006 rs759964807 COSM3429599	87	K>N	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1245783081 CA359922615	88	N>K		No	ClinGen TOPMed
rs765642192 CA3294007	88	N>S		No	ClinGen ExAC gnomAD
CA359922627 rs1369439262	89	F>L		No	ClinGen gnomAD
CA3294008 rs200178902	90	F>L		No	1000Genomes ExAC ClinGen
TCGA novel	93	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA176712 rs73113102 RCV001799625 COSM1716006 RCV000151012	96	D>E	small_intestine [Cosmic]	No	ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA3294010 rs751731005	97	P>H		No	ClinGen ExAC gnomAD
rs1255167702 CA359922786	97	P>S		No	ClinGen TOPMed
rs200164744 CA3294012	98	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
RCV000760945 CA119991200 rs993107184	99	W>*		No	ClinGen ClinVar dbSNP gnomAD
rs1580470997 CA359922825	99	W>R		No	Ensembl ClinGen
CA119991218 rs753681200	102	P>A		No	ExAC gnomAD ClinGen
rs1256575622 CA359922898	102	P>L		No	TOPMed ClinGen
CA3294014 rs753681200	102	P>S		No	ClinGen ExAC gnomAD
CA359922942 rs1405399036	104	S>F		No	gnomAD ClinGen
rs1340195092 CA359922987	106	I>T		No	ClinGen TOPMed
CA3294017 COSM1257351 rs747984825	107	R>K	oesophagus [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
TCGA novel	108	Y>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs397516553 CA133015 RCV000036812	111	D>N		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA3294021 rs770570189	113	V>M		No	ExAC gnomAD ClinGen
rs776202571 CA3294022	114	E>*		No	ClinGen ExAC gnomAD
CA3294024 rs770007829	115	C>F		No	ClinGen ExAC gnomAD
CA3294023 rs759202556	115	C>G		No	ExAC ClinGen
rs770007829 CA359923172	115	C>Y		No	ClinGen ExAC gnomAD
CA3294025 rs775956575	116	S>P		No	ExAC ClinGen
CA359923192 rs199644520	118	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs199644520 CA3294028	118	P>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA359923195 rs1167882872	119	A>S		No	ClinGen TOPMed
CA359923196 rs1351136752	119	A>V		No	gnomAD ClinGen
CA359923204 rs1340745644	120	S>F		No	gnomAD ClinGen
CA359923225 rs1210410073	124	P>L		No	ClinGen TOPMed gnomAD
CA3294030 rs750614136	124	P>T		No	ExAC ClinGen
rs1169966353 CA359923238	126	H>Y		No	TOPMed ClinGen
CA3294031 rs201248989	127	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs773244213 CA3294032	127	R>H		No	ExAC TOPMed gnomAD ClinGen
rs752573907 CA3294033 COSM1438394	128	S>L	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ExAC TOPMed gnomAD ClinGen cosmic curated NCI-TCGA
RCV000364091 CA3294035 RCV000825185 rs144717803	130	L>H		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen ClinVar dbSNP
rs1196062508 CA359923283	131	N>D		No	ClinGen gnomAD
CA3294036 rs746957826	134	K>E		No	ExAC TOPMed gnomAD ClinGen
CA359923371 rs1472659271	137	Y>F		No	ClinGen gnomAD
rs377310988 CA3294038	138	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs769527968 CA3294040	139	G>E		No	ExAC gnomAD ClinGen
rs1315040430 CA359923405	140	S>*		No	gnomAD ClinGen
CA3294041 rs775697447	143	T>I		No	ExAC TOPMed gnomAD ClinGen
rs775697447 CA3294042	143	T>S		No	ClinGen ExAC TOPMed gnomAD
rs370885460 CA359923445	144	F>L		No	ESP ExAC TOPMed gnomAD ClinGen
rs370885460 CA3294043	144	F>V		No	ESP ExAC TOPMed gnomAD ClinGen
CA359923450 rs1310676434	144	F>Y		No	ClinGen gnomAD
CA3294044 rs534441011	146	S>A		No	ClinGen 1000Genomes ExAC gnomAD
CA3294045 rs552673359	146	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	1000Genomes ExAC gnomAD ClinGen NCI-TCGA
CA3294046 rs568823981	147	R>W		No	ClinGen ExAC TOPMed gnomAD
CA359923491 rs1285435426	148	K>T		No	ClinGen gnomAD
CA3294048 rs147129354	150	A>S		No	ESP ExAC gnomAD ClinGen
CA359923537 rs1221836045	151	D>V		No	ClinGen gnomAD
rs556047320 CA359923545	152	A>S		No	ClinGen ExAC TOPMed gnomAD
rs758149763 CA3294051	152	A>V		No	ExAC TOPMed gnomAD ClinGen
rs372725752 CA3294052	153	V>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs751452966 CA3294053	155	P>R		No	ClinGen ExAC TOPMed gnomAD
rs1420972013 CA359923587	156	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA3294054 rs142099889	156	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ESP ExAC TOPMed gnomAD ClinGen NCI-TCGA
CA359923596 rs1171445145	157	D>Y		No	ClinGen gnomAD
rs745433599 COSM1695851 CA3294056	158	P>L	skin [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs201361006 CA3294055	158	P>S		No	ClinGen 1000Genomes ExAC gnomAD
CA359923626 rs1181194778	159	Y>*		No	ClinGen TOPMed
rs575942430 CA3294058 RCV001289090	159	Y>C		No	1000Genomes ExAC TOPMed gnomAD ClinGen ClinVar dbSNP
CA3294057 rs563094179	159	Y>H		No	1000Genomes ExAC gnomAD ClinGen
rs1445998208 CA359923629	160	G>R		No	ClinGen gnomAD
rs748896801 CA3294059	164	R>*		No	ClinGen ExAC TOPMed gnomAD
CA3294060 rs151176949	164	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs727503157 CA176714 RCV000151013	165	H>R		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
COSM3429600 CA3294065 rs149942219	170	R>*	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs200623133 CA359923704	170	R>P		No	ClinGen 1000Genomes ExAC gnomAD
rs200623133 CA3294066	170	R>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA359923715 rs1226957557	172	Y>F		No	TOPMed ClinGen
rs1248064485 CA359923720	173	S>G		No	ClinGen Ensembl
rs905529957 CA119991579	173	S>N		No	ClinGen TOPMed
CA3294068 rs763838485	174	E>A		No	ExAC gnomAD ClinGen
CA359923731 rs1376528849	174	E>D		No	gnomAD ClinGen
rs761718387 CA359923752	177	E>D		No	ExAC gnomAD ClinGen
rs751398198 CA3294069	177	E>G		No	ExAC TOPMed gnomAD ClinGen
rs1466263255 CA359923747	177	E>K		No	TOPMed gnomAD ClinGen
CA3294071 rs767502678	178	E>G		No	ClinGen ExAC gnomAD
CA3294073 rs755585944	181	L>V		No	ClinGen ExAC gnomAD
TCGA novel	183	Y>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA119991615 rs199828646	183	Y>C		No	ClinGen 1000Genomes
rs779443061 CA3294074	186	M>V		No	ExAC gnomAD ClinGen
CA3294075 rs753481178	187	K>R		No	ClinGen ExAC gnomAD
COSM1544182 rs1432208441 CA359923829	188	S>L	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	gnomAD ClinGen cosmic curated NCI-TCGA
rs1330564014 CA359923825	188	S>P		No	gnomAD ClinGen
rs368342770 CA3294077	189	W>*		No	ESP ExAC TOPMed ClinGen
rs1257971678 CA359923833	189	W>*		No	ClinGen gnomAD
CA3294078 rs372066842	191	G>S		No	ESP ExAC gnomAD ClinGen
CA3294079 rs772689711	191	G>V		No	ClinGen ExAC gnomAD
CA182268 RCV000155156 rs144870558 RCV002514985	195	I>M		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA359923869 rs1354330857	195	I>T		No	ClinGen TOPMed gnomAD
CA359923877 rs1304877402	197	G>R		No	gnomAD ClinGen
CA176716 RCV001574306 rs201914751 RCV000151014	198	V>M		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1554046316 RCV000523354	199	V>missing		No	ClinVar dbSNP
CA359923919 rs1200621305	204	G>R		No	gnomAD ClinGen
CA3294083 rs770052859	205	A>T		No	ExAC gnomAD ClinGen
rs1402137478 CA359923932	206	G>C		No	TOPMed gnomAD ClinGen
rs761663541 CA3294084	206	G>D		No	ExAC TOPMed gnomAD ClinGen
rs1402137478 CA359923930	206	G>S		No	TOPMed gnomAD ClinGen
rs753794898 CA3294085	210	C>Y		No	ClinGen ExAC TOPMed gnomAD
CA3294086 rs750316255	212	T>I		No	ClinGen ExAC gnomAD
rs1303417442 CA359924039	214	Y>*		No	gnomAD ClinGen
CA119991706 rs1006970767	214	Y>D		No	ClinGen TOPMed
rs1018325068 CA119991715	215	I>T		No	ClinGen TOPMed gnomAD
rs1218200744 CA359924070	216	H>Q		No	gnomAD ClinGen
CA3294087 rs760552789	217	K>R		No	ExAC TOPMed gnomAD ClinGen
rs1320414830 CA359924105	219	S>G		No	ClinGen gnomAD
COSM1544181 rs1319523213 CA359924173	223	N>S	lung [Cosmic]	No	ClinGen cosmic curated TOPMed
rs753327558 CA3294089	224	L>F		No	ClinGen ExAC TOPMed gnomAD
CA3294090 rs754651556	227	Y>C		No	ExAC gnomAD ClinGen
TCGA novel	228	S>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1000831798 CA119991779	229	Q>E		No	ClinGen TOPMed
CA119991804 rs373119012	230	P>L		No	TOPMed gnomAD ClinGen
CA3294091 rs778764358	230	P>T		No	ExAC TOPMed gnomAD ClinGen
CA359924279 rs1422986265	231	Y>D		No	TOPMed ClinGen
CA359924277 rs1422986265	231	Y>H		No	TOPMed ClinGen
rs758765481 CA359924292	232	G>C		No	ExAC TOPMed gnomAD ClinGen
rs758765481 CA3294093	232	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1478170424 CA359924298	233	M>V		No	ClinGen Ensembl
CA3294094 rs778025406	234	G>V		No	ExAC gnomAD ClinGen
CA359924316 rs1368992044	235	G>V		No	ClinGen gnomAD
rs1358661480 CA359924319	236	V>A		No	ClinGen gnomAD
rs370429615 CA3294095	236	V>I		No	ExAC TOPMed gnomAD ClinGen
rs771384203 CA3294096	237	G>A		No	ExAC TOPMed gnomAD ClinGen
TCGA novel	238	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs757140559 CA119991848	239	L>F		No	ClinGen Ensembl
rs781312124 CA3294097	239	L>W		No	ExAC TOPMed gnomAD ClinGen
rs746007276 CA3294098	241	S>N		No	ClinGen ExAC gnomAD
rs749526181 CA3294101	242	M>I		No	ExAC gnomAD ClinGen
rs1322865032 CA359924354	242	M>T		No	gnomAD ClinGen
CA3294100 rs775623008	242	M>V		No	ExAC TOPMed gnomAD ClinGen
CA359924366 rs1216962367	244	G>R		No	ClinGen gnomAD
rs1482032700 CA359924371	245	G>S		No	TOPMed gnomAD ClinGen
CA3294104 rs760627718	246	Y>C		No	ExAC TOPMed gnomAD ClinGen
rs1432384537 CA359924419	252	K>*		No	TOPMed ClinGen
CA3294105 rs534524075	253	T>I		No	1000Genomes ExAC TOPMed ClinGen
CA3294107 rs141046438	254	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs201375656 CA119991985	256	V>I		No	ClinGen 1000Genomes gnomAD
rs538355586 CA3294110	258	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3294109 rs538355586	258	V>M		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs1347182181 CA359924508	260	A>T		No	ClinGen gnomAD
rs556959034 CA3294111	261	G>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs757771403 CA3294113	263	A>P		No	ExAC gnomAD ClinGen
CA3294114 rs781617537	264	W>G		No	ExAC gnomAD ClinGen
CA119992011 rs77877237	264	W>L		No	ClinGen Ensembl
rs999267436 CA119992033	265	I>V		No	Ensembl ClinGen
CA119992041 rs575107578	266	T>I		No	ClinGen 1000Genomes
RCV001008992 rs748539820	267	T>missing		No	ClinVar dbSNP
rs746378134 CA3294116	267	T>A		No	ExAC TOPMed gnomAD ClinGen
CA3294117 rs777229591	267	T>I		No	ExAC TOPMed gnomAD ClinGen
rs749471157 CA3294119	268	I>V		No	ClinGen ExAC gnomAD
COSM1257352 CA359924730 rs1157433915	277	M>I	oesophagus [Cosmic]	No	Ensembl ClinGen cosmic curated
CA3294122 rs746834282	277	M>T		No	ExAC gnomAD ClinGen
CA3294121 rs578063935	277	M>V		No	ClinGen ExAC TOPMed gnomAD
CA359924745 rs1211385412	278	Y>S		No	TOPMed ClinGen
CA359924765 rs776639833	279	Y>*		No	ClinGen ExAC gnomAD
rs555314542 CA3294126 COSM1069745	280	R>Q	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	1000Genomes ExAC TOPMed gnomAD ClinGen cosmic curated NCI-TCGA
CA3294125 rs186233845	280	R>W		No	1000Genomes ExAC TOPMed gnomAD ClinGen
CA3294127 rs199945192	281	T>A		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs1360157156 CA359924794	282	I>V		No	ClinGen gnomAD
CA119992233 rs1051734128	285	D>E		No	TOPMed ClinGen
TCGA novel	285	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs891928264 CA119992213	285	D>Y		No	ClinGen Ensembl
CA119992236 rs201406935	286	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	Ensembl ClinGen NCI-TCGA
rs143351847 CA3294128 CA359924841	287	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA3294129 rs763714710	288	W>L		No	ExAC gnomAD ClinGen
RCV000760899 CA359924854 rs1561291313	289	W>*		No	Ensembl ClinGen ClinVar dbSNP
rs751950671 CA3294130	289	W>R		No	ExAC gnomAD ClinGen
CA359924862 rs1280818167	290	P>L		No	gnomAD ClinGen
rs757498916 RCV000221930 RCV002519639 CA3294131	290	P>S		No	ClinGen ClinVar ExAC dbSNP gnomAD
rs770042200 RCV001375257 RCV000488026	294	F>missing		No	ClinVar dbSNP
CA3294133 rs767883111	296	I>S		No	ClinGen ExAC gnomAD
rs1313802557 CA359924910	298	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	TOPMed gnomAD ClinGen NCI-TCGA
rs1580473065 CA359924918	299	A>S		No	Ensembl ClinGen
CA3294135 rs377008975	304	Y>S		No	ESP ExAC TOPMed gnomAD ClinGen
rs1431781485 CA359924957	305	M>V		No	TOPMed ClinGen
rs779068129 CA3294138	307	A>S		No	ClinGen ExAC TOPMed gnomAD
RCV001195613 rs779068129 RCV001863089 CA3294137	307	A>T		No	ExAC TOPMed gnomAD ClinGen ClinVar dbSNP
CA3294140 rs781166962	308	A>G		No	ClinGen ExAC
rs200849891 CA3294139	308	A>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA359924979 rs781166962	308	A>V		No	ClinGen ExAC
rs980410511 CA119992341	311	Y>C		No	TOPMed gnomAD ClinGen
CA3294142 rs769904212	313	N>D		No	ClinGen ExAC
CA119992353 rs377477543	313	N>S		No	ClinGen ESP TOPMed gnomAD
rs758924175 CA3294143	315	T>I		No	ExAC TOPMed gnomAD ClinGen
rs144499910 CA3294144	317	R>*		No	ESP ExAC TOPMed gnomAD ClinGen
CA3294145 rs144499910	317	R>G		No	ESP ExAC TOPMed gnomAD ClinGen
rs148416461 CA119992366	317	R>P		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs761549609 CA3294147	318	G>R		No	ClinGen ExAC gnomAD
rs767827863 CA3294148	320	L>V		No	ExAC TOPMed gnomAD ClinGen
rs761148292 CA3294150	323	Y>C		No	ExAC gnomAD ClinGen
CA359925077 rs766928397	324	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA3294151 rs766928397	324	P>Q		No	ClinGen ExAC TOPMed gnomAD
CA359925076 rs766928397	324	P>R		No	ExAC TOPMed gnomAD ClinGen
CA3294152 rs753944684	326	F>C		No	ExAC TOPMed gnomAD ClinGen
CA359925086 rs1287623623	326	F>L		No	gnomAD ClinGen
CA119992416 rs918679016	327	N>K		No	Ensembl ClinGen
CA359925104 rs1220948558	328	T>I		No	TOPMed gnomAD ClinGen
rs1247316005 CA359925107	329	P>S		No	TOPMed gnomAD ClinGen
CA359925105 rs1247316005	329	P>T		No	ClinGen TOPMed gnomAD
CA359925124 rs1490911223	331	N>K		No	gnomAD ClinGen
rs754942278 CA3294153	332	A>V		No	ExAC gnomAD ClinGen
rs1423419794 CA359925148	335	C>S		No	gnomAD ClinGen
CA119992463 rs375420522	336	R>L		No	ESP ExAC TOPMed gnomAD ClinGen
CA3294155 rs375420522	336	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs779060557 RCV000213265 CA3294154	336	R>W		No	ExAC TOPMed gnomAD ClinGen ClinVar dbSNP
rs758736953 CA3294157	339	G>A		No	ExAC gnomAD ClinGen
CA359925168 rs1405228526	339	G>R		No	gnomAD ClinGen
rs745719696 CA3294159	340	G>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA3294158 rs781115061	340	G>R		No	ClinGen ExAC
CA359925183 rs1456520295	341	Q>H		No	ClinGen TOPMed
CA359925190 rs1397795639	342	I>R		No	gnomAD ClinGen
rs769853299 CA3294160	344	A>T		No	ExAC gnomAD ClinGen
rs1282154998 CA359925209	345	M>I		No	gnomAD ClinGen
rs1228778539 CA359925254	350	V>I		No	gnomAD ClinGen
rs1228778539 CA359925251	350	V>L		No	ClinGen gnomAD
CA359925293 rs1457104009	353	I>R		No	TOPMed ClinGen
CA359925286 rs1292647649	353	I>V		No	gnomAD ClinGen
rs1185034788 CA359925304	354	V>A		No	ClinGen TOPMed
CA359925365 rs1420228712	359	A>V		No	TOPMed ClinGen
CA3294163 rs146011285	360	L>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA359925580 rs1561291726	361	V>I		No	ClinGen Ensembl
TCGA novel	362	C>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs530063691 CA3294164	364	K>R		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs530063691 CA119992527	364	K>T		No	1000Genomes ExAC TOPMed gnomAD ClinGen
CA3294165 rs773552728	366	W>*		No	ExAC gnomAD ClinGen
rs1195794146 CA359925613	366	W>R		No	ClinGen gnomAD
CA359925644 rs1274738044	368	H>P		No	ClinGen TOPMed
CA359925662 rs1214058915	369	E>D		No	TOPMed ClinGen
CA3294167 rs567232523	370	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs528326316 CA3294168	372	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3294171 rs546439255	372	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
COSM1671678 CA3294169 rs528326316	372	R>W	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA359925697 rs1385216510	373	R>*		No	TOPMed ClinGen
CA359925717 rs1360783233	374	H>R		No	ClinGen gnomAD
rs1331987143 CA359925726	375	R>G		No	gnomAD ClinGen
rs200492383 CA3294173	375	R>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	375	R>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA119992624 rs758673101	377	Y>C		No	Ensembl ClinGen
CA3294175 rs755916038	378	M>I		No	ExAC gnomAD ClinGen
rs199545744 CA359925770	378	M>R		No	ClinGen 1000Genomes ExAC gnomAD
CA3294174 rs199545744	378	M>T		No	1000Genomes ExAC gnomAD ClinGen
TCGA novel	378	M>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA359925808 rs1434792855	381	Q>*		No	TOPMed ClinGen
CA359925810 rs538762858	381	Q>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs538762858 CA3294176	381	Q>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs749142681 CA3294177	382	E>D		No	ClinGen ExAC gnomAD
CA3294190 rs368720113	383	I>T		No	ESP ExAC TOPMed gnomAD ClinGen
rs1265334553 CA359925999	384	N>K		No	ClinGen gnomAD
rs1207569025	385	E>T		No	gnomAD
rs1343419528 CA359926017	386	P>A		No	gnomAD ClinGen
rs1336624126 CA359926035 RCV000760691	387	S>*		No	ClinGen ClinVar TOPMed dbSNP
rs1306679687	387	S>A		No	TOPMed
CA3294191 rs751782411	390	S>*		No	ExAC TOPMed gnomAD ClinGen
CA3294192 rs751782411	390	S>L		No	ExAC TOPMed gnomAD ClinGen
rs727503160	390	S>N		No	ExAC TOPMed gnomAD
rs1456275753	391	K>I		No	TOPMed gnomAD
rs1267301986	392	R>*		No	TOPMed gnomAD
CA119995908 rs200974421	392	R>M		No	ClinGen TOPMed
rs1250677407 CA359926090	392	R>W		No	gnomAD ClinGen
CA359926102 rs1420342679	393	K>E		No	ClinGen gnomAD
CA359926125 rs1561294536	394	M>I		No	ClinGen Ensembl
rs886060734	394	M>N		No	Ensembl
CA120001917 rs1011640011	395	C>Y		No	ClinGen Ensembl
rs1481870728 CA359926748	396	E>Q		No	gnomAD ClinGen
rs1405836301	396	E>Q		No	gnomAD
rs1207569025 CA359926759	397	M>T		No	ClinGen gnomAD
rs767835385	398	A>K		No	ExAC gnomAD
CA3294207 rs770061881	398	A>T		No	ClinGen ExAC gnomAD
CA359926770 rs1306679687	399	T>A		No	ClinGen TOPMed
CA3294208 rs776007843	399	T>I		No	ExAC gnomAD ClinGen
CA359926779 rs1260820599	400	S>N		No	ClinGen gnomAD
rs727503160 RCV000151018 CA176724	402	D>N		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs727503160 CA3294210	402	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs1456275753 CA359926807	403	R>I		No	ClinGen TOPMed gnomAD
rs1419233847	403	R>T		No	TOPMed
rs1267301986 CA359926816	404	Q>*		No	ClinGen TOPMed gnomAD
rs1399788517	404	Q>R		No	TOPMed gnomAD
rs993561105	406	D>E		No	TOPMed
rs1405836301 CA359926873	408	E>Q		No	ClinGen gnomAD
rs1264388762	409	V>R		No	TOPMed gnomAD
rs1243198013	409	V>T		No	TOPMed gnomAD
CA3294213 rs767835385	410	N>K		No	ClinGen ExAC gnomAD
rs1480351501 CA359926919	411	F>S		No	TOPMed gnomAD ClinGen
rs1468827376	413	E>N		No	gnomAD
CA359926947 rs1419233847	415	R>T		No	ClinGen TOPMed
CA359926955 rs1399788517	416	T>I		No	TOPMed gnomAD ClinGen
CA359926956 rs1399788517	416	T>R		No	ClinGen TOPMed gnomAD
rs993561105 CA120001981	418	K>E		No	ClinGen TOPMed
CA3294215 rs754733972	420	K>E		No	ExAC TOPMed gnomAD ClinGen
CA359926990 rs1264388762	421	P>R		No	ClinGen TOPMed gnomAD
CA359926986 rs1243198013	421	P>T		No	ClinGen TOPMed gnomAD
rs1422027597	421	P>V		No	TOPMed gnomAD
CA3294216 rs764951550	423	L>V		No	ExAC gnomAD ClinGen
rs200014615	424	L>T		No	ExAC gnomAD
rs1468827376 CA359927012	425	S>N		No	ClinGen gnomAD
rs780834302	425	S>V		No	ExAC gnomAD
rs149971714	426	G>L		No	ESP ExAC TOPMed gnomAD
rs777231358 CA3294219	426	G>V		No	ExAC TOPMed gnomAD ClinGen
rs1263535888 CA359927026	427	H>R		No	ClinGen gnomAD
rs977144719	427	H>T		No	Ensembl
rs1554047535 RCV000614520 CA359927042	429	P>L		No	ClinGen ClinVar Ensembl dbSNP
rs1283422805	430	P>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs886043304	431	G>M		No	TOPMed
rs1283422805	431	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs774558888	432	H>V		No	ExAC TOPMed gnomAD
rs1422027597 CA359927064	433	I>V		No	ClinGen TOPMed gnomAD
rs780544955	434	P>H		No	ExAC gnomAD
CA359927074 rs1335986411	434	P>L		No	ClinGen TOPMed
CA3294220 rs200014615 COSM738315	436	P>T	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
RCV000825955 CA3294223 rs140452135	437	I>T		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs780834302 CA3294222	437	I>V		No	ClinGen ExAC gnomAD
CA3294225 rs149971714	438	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA120002088 rs977144719	439	M>T		No	ClinGen Ensembl
rs779495239	440	P>A		No	ExAC gnomAD
CA120002092 rs1031095336	440	P>S		No	gnomAD ClinGen
CA120002118 rs769336794	441	D>H		No	ClinGen ExAC TOPMed gnomAD
CA3294227 rs769336794	441	D>N		No	ClinGen ExAC TOPMed gnomAD
rs886043304 CA10605356 RCV000277162	443	V>M		No	ClinGen ClinVar TOPMed dbSNP
rs774558888 CA3294228	444	A>V		No	ClinGen ExAC TOPMed gnomAD
rs780544955 CA3294245	446	Y>H		No	ClinGen ExAC gnomAD
rs760916939	451	T>*		No	ExAC gnomAD
rs200786635 CA3294247	451	T>R		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs779495239 CA3294248	452	D>A		No	ClinGen ExAC gnomAD
rs766525454 CA120002384	455	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA3294249 rs748616459	455	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs75162729 CA3294250	456	E>G		No	ClinGen 1000Genomes ExAC
rs771189471	456	E>G		No	ExAC gnomAD
CA3294251 rs774571921	457	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen NCI-TCGA
rs762672605	458	Y>E		No	ExAC gnomAD
rs762672605	458	Y>Q		No	ExAC gnomAD
rs998534286	459	K>V		No	Ensembl
rs1178060543 CA359927263	462	F>S		No	ClinGen gnomAD
rs761687161	462	F>V		No	ExAC gnomAD
rs760916939 CA3294252	463	Q>*		No	ClinGen ExAC gnomAD
rs1442308166	465	Q>H		No	gnomAD
rs563770751	467	S>I		No	1000Genomes ExAC TOPMed gnomAD
TCGA novel	467	S>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3294253 rs771189471	468	E>G		No	ClinGen ExAC gnomAD
rs377054430	468	E>P		No	ESP ExAC TOPMed gnomAD
rs1399225116 CA359927316	469	Y>F		No	ClinGen TOPMed
rs766199160	469	Y>K		No	ExAC gnomAD
rs1283737874	469	Y>W		No	gnomAD
CA3294255 rs762672605	470	K>E		No	ClinGen ExAC gnomAD
rs762672605 CA3294254	470	K>Q		No	ClinGen ExAC gnomAD
rs902865590 CA120002502	471	E>*		No	ClinGen Ensembl
rs1243425194	471	E>C		No	TOPMed
rs998534286 CA120002523	471	E>V		No	ClinGen Ensembl
rs200109050	473	S>K		No	1000Genomes ExAC gnomAD
rs1205324278	474	A>P		No	gnomAD
CA3294257 rs761687161	474	A>V		No	ClinGen ExAC gnomAD
CA359927368 rs1442308166	477	Q>H		No	ClinGen gnomAD
rs1369270082	478	A>V		No	gnomAD
CA3294259 rs563770751	479	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs377054430 CA3294260	480	L>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs767671073 RCV000218224 RCV000724327 CA245995	480	L>V		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs766199160 CA3294261	481	R>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1283737874 CA359927384	481	R>W		No	ClinGen gnomAD
rs542970702	482	K>L		No	1000Genomes ExAC gnomAD
rs758864840	482	K>S		No	ExAC gnomAD
CA359927402 rs1243425194	483	F>C		No	ClinGen TOPMed
rs747114105	483	F>Y		No	ExAC TOPMed
CA3294263 rs200109050	485	E>K		No	ClinGen 1000Genomes ExAC gnomAD
rs1205324278 CA359927423	486	L>P		No	ClinGen gnomAD
rs118203957	488	A>G		No	TOPMed
rs746116082	488	A>L		No	ExAC TOPMed gnomAD
rs746116082	488	A>Q		No	ExAC TOPMed gnomAD
rs1198930354 CA359927438	489	V>M		No	ClinGen gnomAD
rs1275009510 CA359927450 COSM1544179	490	M>I	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	TOPMed ClinGen cosmic curated NCI-TCGA
CA359927445 rs1369270082	490	M>V		No	ClinGen gnomAD
rs1385050483	492	R>Q		No	gnomAD
rs752765358 CA3294265	493	L>F		No	ClinGen ExAC TOPMed gnomAD
rs542970702 CA3294267	494	P>L		No	ClinGen 1000Genomes ExAC gnomAD
rs758864840 CA3294266	494	P>S		No	ClinGen ExAC gnomAD
CA3294268 rs747114105	495	H>Y		No	ClinGen ExAC TOPMed
rs771005521 CA3294269	497	S>L		No	ClinGen ExAC gnomAD
rs746058672	498	E>Y		No	ExAC TOPMed gnomAD
rs770051043	500	R>D		No	ExAC TOPMed gnomAD
CA3294271 rs118203957	500	R>G		No	ClinGen TOPMed
rs1406495827	500	R>K		No	gnomAD
rs746116082 CA359927515	500	R>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA3294273 COSM177494 rs746116082	500	R>Q	Variant assessed as Somatic; 0.0 impact. pancreas large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs747962503	501	Q>L		No	ExAC gnomAD
CA3294292 rs541544525	503	H>R		No	ClinGen 1000Genomes ExAC gnomAD
CA359928095 rs1385050483	504	E>Q		No	ClinGen gnomAD
CA359928140 rs1237224143	507	S>*		No	TOPMed gnomAD ClinGen
rs1337952261	508	R>L		No	gnomAD
rs1175689173	509	I>A		No	TOPMed
rs746058672 CA3294293	510	H>Y		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	511	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3294295 rs770051043	512	E>D		No	ClinGen ExAC TOPMed gnomAD
rs756327348	512	E>G		No	ExAC gnomAD
rs1406495827 CA359928201	512	E>K		No	ClinGen gnomAD
CA3294296 rs747962503	513	F>L		No	ClinGen ExAC gnomAD
CA359928235 rs1454267022	514	K>T		No	ClinGen gnomAD
CA359928250 rs143281673	515	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA3294299 rs143281673	515	K>Q		No	ESP ExAC TOPMed gnomAD ClinGen
rs749537017	516	K>L		No	ExAC TOPMed gnomAD
rs753107989	517	K>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs1224726076 CA359928345	519	D>N		No	ClinGen gnomAD
CA3294313 rs377586183	519	D>V		No	ESP ExAC TOPMed gnomAD ClinGen
rs1337952261 CA359928355	520	P>L		No	ClinGen gnomAD
CA359928359 rs1175689173	521	T>A		No	ClinGen TOPMed
rs750561732 CA359928362	521	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen NCI-TCGA
COSM1438399 CA3294315 rs756327348	524	E>G	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1283020893	524	E>V		No	TOPMed
rs771037630	526	K>D		No	ExAC gnomAD
CA120008856 rs1030817425	527	E>G		No	ClinGen TOPMed gnomAD
CA3294316 rs533462435	528	R>C	Variant assessed as Somatic; 0.0001386 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs749537017 CA3294317	528	R>H		No	ExAC TOPMed gnomAD ClinGen
CA359928409 rs749537017	528	R>L		No	ClinGen ExAC TOPMed gnomAD
rs776264740	528	R>R		No	ExAC gnomAD
rs1279792670	530	D>K		No	TOPMed
rs1301511286	531	Y>F		No	gnomAD
rs771715111 CA3294318	532	L>V		No	ExAC gnomAD ClinGen
rs1561305497	533	K>K		No	Ensembl
rs377424361	534	N>C		No	1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	535	K>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs774959302	535	K>E		No	ExAC gnomAD
TCGA novel	535	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1283020893 CA359928463	536	L>V		No	ClinGen TOPMed
rs746908180 CA3294320	537	S>T		No	ClinGen ExAC gnomAD
CA3294321 rs771037630	538	H>D		No	ClinGen ExAC gnomAD
rs1202019478 CA359928478	538	H>Q		No	TOPMed gnomAD ClinGen
CA3294322 rs776264740	540	K>R		No	ClinGen ExAC gnomAD
rs1279792670 CA359928505	542	R>K		No	ClinGen TOPMed
rs751970657	543	I>*		No	ExAC gnomAD
CA359928511 rs1301511286	543	I>F		No	ClinGen gnomAD
CA359928517 rs1345350883 COSM1544178	544	Q>E	lung Variant assessed as Somatic; 4.621e-05 impact. [Cosmic, NCI-TCGA]	No	gnomAD ClinGen cosmic curated NCI-TCGA
CA359928524 rs1561305497	545	E>K		No	ClinGen Ensembl
CA359928529 rs1561305504	545	E>V		No	ClinGen Ensembl
rs762295546	546	Y>A		No	ExAC gnomAD
rs377424361 CA3294324	546	Y>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs768081415	546	Y>C		No	ExAC gnomAD
rs774959302 CA3294326	547	D>E		No	ClinGen ExAC gnomAD
CA359928547 rs1227300118	548	K>E		No	TOPMed gnomAD ClinGen
rs568454141 CA120008943	550	M>I		No	ClinGen Ensembl
rs1405544022 CA359928564	550	M>T		No	ClinGen TOPMed
rs1017394344 CA120008946	552	W>*		No	Ensembl ClinGen
rs968571783 CA120008954	554	V>E		No	Ensembl ClinGen
CA3294328 rs751970657	555	Q>*		No	ClinGen ExAC gnomAD
rs1156931071 CA359928603	556	G>S		No	TOPMed ClinGen
CA3294329 rs762295546	558	S>A		No	ClinGen ExAC gnomAD
COSM420656 rs768081415 CA3294330	558	S>C	Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA359928621 rs1402541215	559	S>E		No	TOPMed ClinGen

1 associated diseases with Q8N4S9

[MIM: 610153]: Deafness, autosomal recessive, 49 (DFNB49)

A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. {ECO:0000269|PubMed:17186462}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. {ECO:0000269|PubMed:17186462}. Note=The disease is caused by variants affecting the gene represented in this entry.

2 regional properties for Q8N4S9

Type	Name	Position	InterPro Accession
domain	Marvel domain	188 - 367	IPR008253
domain	Occludin homology domain	440 - 551	IPR010844

Functions

		Description
EC Number
Subcellular Localization	Cell membrane ; Multi-pass membrane protein Cell junction, tight junction	Located at tricellular contacts
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

11 GO annotations of cellular component

Name	Definition
apical plasma membrane	The region of the plasma membrane located at the apical end of the cell.
basolateral plasma membrane	The region of the plasma membrane that includes the basal end and sides of the cell. Often used in reference to animal polarized epithelial membranes, where the basal membrane is the part attached to the extracellular matrix, or in plant cells, where the basal membrane is defined with respect to the zygotic axis.
bicellular tight junction	An occluding cell-cell junction that is composed of a branching network of sealing strands that completely encircles the apical end of each cell in an epithelial sheet; the outer leaflets of the two interacting plasma membranes are seen to be tightly apposed where sealing strands are present. Each sealing strand is composed of a long row of transmembrane adhesion proteins embedded in each of the two interacting plasma membranes.
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.
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytoplasmic vesicle	A vesicle found in the cytoplasm of a cell.
integral component of membrane	The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.
paranodal junction	A highly specialized cell-cell junction found in vertebrates, which forms between a neuron and a glial cell, and has structural similarity to Drosophila septate junctions. It flanks the node of Ranvier in myelinated nerve and electrically isolates the myelinated from unmyelinated nerve segments and physically separates the voltage-gated sodium channels at the node from the cluster of potassium channels underneath the myelin sheath.
Schmidt-Lanterman incisure	Regions within compact myelin in which the cytoplasmic faces of the enveloping myelin sheath are not tightly juxtaposed, and include cytoplasm from the cell responsible for making the myelin. Schmidt-Lanterman incisures occur in the compact myelin internode, while lateral loops are analogous structures found in the paranodal region adjacent to the nodes of Ranvier.
tight junction	A cell-cell junction that seals cells together in an epithelium in a way that prevents even small molecules from leaking from one side of the sheet to the other.
tricellular tight junction	An specialized occluding junction where three epithelial cells meet. It is composed of a branching network of sealing strands that run perpendicularly to the bicellular tight junction at the point of contact between three epithelial cells in an epithelial sheet.

No GO annotations of molecular function

Name	Definition
No GO annotations for molecular function

4 GO annotations of biological process

Name	Definition
bicellular tight junction assembly	The aggregation, arrangement and bonding together of a set of components to form a tight junction, an occluding cell-cell junction that is composed of a branching network of sealing strands that completely encircles the apical end of each cell in an epithelial sheet.
cell-cell junction organization	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a cell-cell junction. A cell-cell junction is a specialized region of connection between two cells.
establishment of endothelial barrier	The establishment of a barrier between endothelial cell layers, such as those in the brain, lung or intestine, to exert specific and selective control over the passage of water and solutes, thus allowing formation and maintenance of compartments that differ in fluid and solute composition.
sensory perception of sound	The series of events required for an organism to receive an auditory stimulus, convert it to a molecular signal, and recognize and characterize the signal. Sonic stimuli are detected in the form of vibrations and are processed to form a sound.

3 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q16625	OCLN	Occludin	Homo sapiens (Human)	PR
Q61146	Ocln	Occludin	Mus musculus (Mouse)	PR
Q6P6T5	Ocln	Occludin	Rattus norvegicus (Rat)	PR

10	20	30	40	50	60
MSNDGRSRNR	DRRYDEVPSD	LPYQDTTIRT	HPTLHDSERA	VSADPLPPPP	LPLQPPFGPD
70	80	90	100	110	120
FYSSDTEEPA	IAPDLKPVRR	FVPDSWKNFF	RGKKKDPEWD	KPVSDIRYIS	DGVECSPPAS
130	140	150	160	170	180
PARPNHRSPL	NSCKDPYGGS	EGTFSSRKEA	DAVFPRDPYG	SLDRHTQTVR	TYSEKVEEYN
190	200	210	220	230	240
LRYSYMKSWA	GLLRILGVVE	LLLGAGVFAC	VTAYIHKDSE	WYNLFGYSQP	YGMGGVGGLG
250	260	270	280	290	300
SMYGGYYYTG	PKTPFVLVVA	GLAWITTIII	LVLGMSMYYR	TILLDSNWWP	LTEFGINVAL
310	320	330	340	350	360
FILYMAAAIV	YVNDTNRGGL	CYYPLFNTPV	NAVFCRVEGG	QIAAMIFLFV	TMIVYLISAL
370	380	390	400	410	420
VCLKLWRHEA	ARRHREYMEQ	QEINEPSLSS	KRKMCEMATS	GDRQRDSEVN	FKELRTAKMK
430	440	450	460	470	480
PELLSGHIPP	GHIPKPIVMP	DYVAKYPVIQ	TDDERERYKA	VFQDQFSEYK	ELSAEVQAVL
490	500	510	520	530	540
RKFDELDAVM	SRLPHHSESR	QEHERISRIH	EEFKKKKNDP	TFLEKKERCD	YLKNKLSHIK
550
QRIQEYDKVM	NWDVQGYS