AiPD: Autoinhibited Protein Database

Q96JB8

Gene name	MPP4 (ALS2CR5, DLG6)
Protein name	MAGUK p55 subfamily member 4
Names	Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 5 protein, Discs large homolog 6
Species	Homo sapiens (Human)
KEGG Pathway	hsa:58538
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

285-425 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

285-425 (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

1 structures for Q96JB8

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q96JB8-F1	Predicted				AlphaFoldDB

565 variants for Q96JB8

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV000416477 CA16044215 rs1057519443	316	W>R	Global developmental delay [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA2057411 rs772997329	5	D>E		No	ClinGen ExAC gnomAD
CA2057410 rs771666905	6	K>Q		No	ClinGen ExAC gnomAD
rs778723729 CA2057409	8	A>G		No	ClinGen ExAC gnomAD
CA2057408 rs778723729	8	A>V		No	ClinGen ExAC gnomAD
rs768378461 CA2057407	9	D>N		No	ClinGen ExAC gnomAD
CA350318785 rs1391198611	12	D>E		No	ClinGen gnomAD
rs1401474497 CA350318794	12	D>H		No	ClinGen gnomAD
CA2057405 rs781719251	15	D>N		No	ClinGen ExAC TOPMed
rs757540377 CA2057404	16	M>K		No	ClinGen ExAC TOPMed gnomAD
CA350318728 rs757540377	16	M>T		No	ClinGen ExAC TOPMed gnomAD
CA2057403 rs752168797	17	K>E		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	22	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1293593853 CA350318632	24	P>A		No	ClinGen TOPMed
CA350318595 rs1465972535	27	G>C		No	ClinGen gnomAD
CA350318491 rs1574640396	28	L>F		No	ClinGen Ensembl
rs1007542781 CA63969188	30	Q>R		No	ClinGen TOPMed gnomAD
CA2057377 rs760535514	31	I>T		No	ClinGen ExAC gnomAD
rs1289973251 CA350318452	31	I>V		No	ClinGen TOPMed gnomAD
CA350318438 rs1295359712	32	L>P		No	ClinGen TOPMed gnomAD
CA2057376 rs750139014	33	R>K		No	ClinGen ExAC TOPMed gnomAD
rs774409591 CA350318397	35	V>A		No	ClinGen ExAC TOPMed gnomAD
rs774409591 CA2057373	35	V>E		No	ClinGen ExAC TOPMed gnomAD
CA2057374 rs761885936	35	V>M		No	ClinGen ExAC gnomAD
CA63969146 rs571590550	40	S>N		No	ClinGen Ensembl
CA350318252 rs1426900518	43	Y>F		No	ClinGen gnomAD
CA63969138 rs1012844751	43	Y>H		No	ClinGen Ensembl
rs6725443 CA350318245	44	G>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2057370 rs6725443 VAR_022643	44	G>S		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1471214674 COSM1614149 COSM3709340 CA350318202 COSM1614150	46	D>Y	liver [Cosmic]	No	ClinGen cosmic curated TOPMed
rs188975951 COSM3407488 CA2057369 COSM3407490 COSM3407489	49	G>V	central_nervous_system [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs1484353349 CA350318117	50	V>A		No	ClinGen gnomAD
CA350318122 rs1484353349	50	V>G		No	ClinGen gnomAD
CA350318125 rs1206441746	50	V>L		No	ClinGen TOPMed gnomAD
rs1206441746 CA350318128	50	V>M		No	ClinGen TOPMed gnomAD
rs1228219356 CA350318107	51	C>Y		No	ClinGen gnomAD
TCGA novel	52	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA350318048 rs772394912	54	Y>*		No	ClinGen ExAC TOPMed gnomAD
CA2057367 rs773408654	54	Y>H		No	ClinGen ExAC gnomAD
CA350318040 rs748699688	55	D>H		No	ClinGen ExAC TOPMed gnomAD
CA2057365 rs748699688	55	D>N		No	ClinGen ExAC TOPMed gnomAD
CA2057364 rs779376582	58	H>P		No	ClinGen ExAC
CA63969087 rs779335492	59	S>L		No	ClinGen Ensembl
CA350317980 rs1368701935	59	S>P		No	ClinGen TOPMed gnomAD
COSM1014949 CA2057362 COSM1014948 rs749297609	60	P>L	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	60	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2057359 rs750631710	63	Q>P		No	ClinGen ExAC gnomAD
rs1412040182 CA350317886	64	A>D		No	ClinGen TOPMed gnomAD
rs1412040182 CA350317883	64	A>G		No	ClinGen TOPMed gnomAD
CA350317888 rs1335513860	64	A>S		No	ClinGen gnomAD
CA350317874 rs1183768624	65	L>P		No	ClinGen gnomAD
CA2057357 rs757106138	67	K>N		No	ClinGen ExAC gnomAD
CA2057345 rs749420254	69	Y>H		No	ClinGen ExAC TOPMed gnomAD
rs1308753967 CA350317319	70	D>N		No	ClinGen TOPMed
CA350317283 rs1210825455	71	C>S		No	ClinGen gnomAD
CA63967118 rs771461548	72	L>F		No	ClinGen Ensembl
rs1327110804 CA350317248	73	Q>R		No	ClinGen gnomAD
CA2057344 rs780040778	74	E>D		No	ClinGen ExAC
TCGA novel	74	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA63967114 rs920647870	76	K>T		No	ClinGen Ensembl
rs756200036 CA2057343	77	E>G		No	ClinGen ExAC gnomAD
rs532787257 CA2057342	78	K>N		No	ClinGen 1000Genomes ExAC gnomAD
CA350317105 rs1574637529	79	K>N		No	ClinGen Ensembl
rs1323476003 CA350317076	81	V>F		No	ClinGen gnomAD
CA2057340 rs757124522	84	T>I		No	ClinGen ExAC gnomAD
rs1322063025 CA350316987	86	H>R		No	ClinGen gnomAD
rs752647559 CA2057336	88	Q>R		No	ClinGen ExAC gnomAD
CA350316871 rs1253424839	91	S>F		No	ClinGen TOPMed
CA350316874 rs1253424839	91	S>Y		No	ClinGen TOPMed
CA2057334 rs759068280	92	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs1163307379 CA350316864	92	Y>H		No	ClinGen TOPMed gnomAD
CA2057333 rs180978389	93	E>A		No	ClinGen 1000Genomes ExAC gnomAD
CA350316850 rs765946151	93	E>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1249066146 CA350316856	93	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs778901149 CA2057317	94	V>L		No	ClinGen ExAC gnomAD
rs1371792077 CA350316407	95	V>L		No	ClinGen gnomAD
rs1348274577 CA350316399	96	E>G		No	ClinGen TOPMed
rs367743197 CA63964792	96	E>K		No	ClinGen gnomAD
CA2057316 rs754448422	97	L>F		No	ClinGen ExAC gnomAD
COSM271722 COSM3407487 rs753283774 COSM3407486 CA2057315	99	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs191664251 CA2057314	99	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs191664251 CA63964770	99	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA350316380 rs191664251	99	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA63964762 rs867080299	100	E>*		No	ClinGen Ensembl
CA2057313 rs760363402	104	S>C		No	ClinGen ExAC gnomAD
rs1014249576 CA63964759	105	P>A		No	ClinGen TOPMed
TCGA novel	105	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA63964732 rs868372492	106	E>*		No	ClinGen Ensembl
rs58286283 CA2057310	109	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA63964727 rs374777292	112	Q>R		No	ClinGen ESP TOPMed gnomAD
TCGA novel	113	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA350316233 rs1261957280	115	Q>E		No	ClinGen gnomAD
CA350316219 rs1228537210	116	A>T		No	ClinGen gnomAD
TCGA novel	116	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA63964706 rs1026203966	117	P>L		No	ClinGen TOPMed
rs372143635 CA2057308	117	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA350316194 rs1440694060	118	H>P		No	ClinGen gnomAD
CA350316197 rs1290685625	118	H>Y		No	ClinGen TOPMed gnomAD
CA2057292 rs767135606	121	A>D		No	ClinGen ExAC TOPMed gnomAD
rs767135606 CA63963683	121	A>G		No	ClinGen ExAC TOPMed gnomAD
CA2057291 rs758707140	124	S>G		No	ClinGen ExAC gnomAD
rs754348655 CA2057290	125	A>G		No	ClinGen ExAC TOPMed gnomAD
rs754348655 CA350315745	125	A>V		No	ClinGen ExAC TOPMed gnomAD
rs376175310 CA350315725	126	H>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA2057288 rs760126853	128	T>A		No	ClinGen ExAC gnomAD
CA2057287 rs764628580	128	T>M		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	129	I>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA350315711 rs1487211185	129	I>V		No	ClinGen TOPMed
CA2057285 rs760828568	134	F>L		No	ClinGen ExAC gnomAD
CA350315662 rs1574633649	135	E>D		No	ClinGen Ensembl
CA2057284 rs773571971	136	P>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1357678900 CA350315658	136	P>S		No	ClinGen gnomAD
rs1357678900 CA350315660	136	P>T		No	ClinGen gnomAD
CA2057283 rs772278057	139	P>L		No	ClinGen ExAC gnomAD
CA2057280 rs186378021	145	I>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs905681987 CA63963550	145	I>V		No	ClinGen TOPMed
rs1164828533 CA350315555	147	E>D		No	ClinGen TOPMed
rs370367828 CA2057278	148	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs1418357280 CA350315533	148	S>R		No	ClinGen TOPMed
CA350315518 rs755630027	149	E>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs755630027 CA2057277	149	E>K		No	ClinGen ExAC TOPMed gnomAD
rs918591629 CA350315433	153	R>S		No	ClinGen TOPMed gnomAD
CA2057276 rs745328194	156	C>G		No	ClinGen ExAC gnomAD
rs745328194 CA63963506	156	C>R		No	ClinGen ExAC gnomAD
CA350315344 rs1282054980	163	P>S		No	ClinGen TOPMed
CA350315346 rs1282054980	163	P>T		No	ClinGen TOPMed
rs1189013656 CA350315192	165	G>R		No	ClinGen gnomAD
CA2057257 rs372741246	170	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs199920224 CA2057256	170	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA2057255 rs199920224	170	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1183545344 CA350315076	171	H>R		No	ClinGen gnomAD
rs754197618 CA2057252	172	E>G		No	ClinGen ExAC gnomAD
CA2057253 rs755394529	172	E>K		No	ClinGen ExAC TOPMed gnomAD
CA2057251 rs780728701	173	M>T		No	ClinGen ExAC gnomAD
rs750862800 CA2057249	174	T>R		No	ClinGen ExAC gnomAD
rs201608840 CA2057250	174	T>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs767695884 CA2057247	176	D>N		No	ClinGen ExAC gnomAD
CA2057246 rs761797076	177	I>T		No	ClinGen ExAC TOPMed gnomAD
rs751811986 CA2057245	178	L>F		No	ClinGen ExAC gnomAD
CA350314935 rs902276687	178	L>M		No	ClinGen TOPMed gnomAD
CA2057244 rs764247427	180	A>S	Variant assessed as Somatic; 4.714e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs762762628 CA2057243	182	I>V		No	ClinGen ExAC gnomAD
rs904142488 CA63962889	185	G>S		No	ClinGen TOPMed gnomAD
CA2057240 rs369776519	188	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA350314722 rs1421452801	189	E>K		No	ClinGen gnomAD
COSM395951 CA2057237 rs770536678 COSM395952	191	S>N	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA2057236 rs746433522	191	S>R		No	ClinGen ExAC TOPMed gnomAD
CA2057222 rs201764047	193	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	193	L>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1473963085 CA350313276	196	A>V		No	ClinGen TOPMed
CA350313270 rs1245466363	197	G>R		No	ClinGen gnomAD
rs376964456 CA2057220	198	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA350313253 rs1328257192	198	D>G		No	ClinGen gnomAD
rs776631330 CA2057219	201	V>E		No	ClinGen ExAC
CA350313148 rs1365564268	203	V>M		No	ClinGen TOPMed gnomAD
COSM3695194 COSM3695195 rs760255426 COSM3695196 CA2057217	204	N>S	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1379967535 CA350313085	206	V>I		No	ClinGen gnomAD
CA350313058 rs1383627083	207	S>L		No	ClinGen gnomAD
CA2057216 rs772808283	208	V>I		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	210	G>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2057214 rs747850159	210	G>R		No	ClinGen ExAC gnomAD
CA2057213 rs778705220	212	D>A		No	ClinGen ExAC TOPMed gnomAD
CA350312979 rs1574630381	212	D>E		No	ClinGen Ensembl
CA2057211 rs746162009	215	Q>R		No	ClinGen ExAC gnomAD
rs781733994 CA2057210	216	V>G		No	ClinGen ExAC gnomAD
rs375508982 CA63961129	218	H>P		No	ClinGen ESP TOPMed gnomAD
CA350312850 rs1448511048	218	H>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA350312825 rs1210340023	219	I>V		No	ClinGen gnomAD
TCGA novel	221	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	222	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs374067574 CA2057191	222	M>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs374067574 CA2057190	222	M>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA350311726 rs1193683979	222	M>V		No	ClinGen TOPMed gnomAD
CA2057188 rs200232659	224	R>*		No	ClinGen ExAC gnomAD
rs370307780 CA2057187	224	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	225	G>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA350311661 rs1231069585	225	G>D		No	ClinGen TOPMed
CA2057186 rs755114041	226	T>A		No	ClinGen ExAC TOPMed gnomAD
rs866882165 CA63960046	228	M>T		No	ClinGen gnomAD
CA350311547 rs1351466599	230	K>N		No	ClinGen TOPMed gnomAD
CA63960041 rs988733532	232	V>A		No	ClinGen Ensembl
CA350311498 rs1263117167	233	P>L		No	ClinGen Ensembl
rs934517572 CA63960024	234	V>G		No	ClinGen Ensembl
CA350311491 rs1331344723	234	V>I		No	ClinGen gnomAD
rs374407516 CA2057184	235	S>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA2057185 rs376241974	235	S>P		No	ClinGen ESP ExAC TOPMed
CA350311395 rs1173392049	239	V>M		No	ClinGen gnomAD
CA63959995 rs376795911	240	N>S		No	ClinGen Ensembl
rs776852607 CA63959991	241	S>R		No	ClinGen Ensembl
rs1559015302 CA350311319	242	Q>R		No	ClinGen Ensembl
rs1279233455 CA350311270	244	M>I		No	ClinGen gnomAD
CA2057167 rs780257601	245	V>L		No	ClinGen ExAC TOPMed gnomAD
rs780257601 CA350311150	245	V>M		No	ClinGen ExAC TOPMed gnomAD
rs200421737 CA350311100	246	Y>*		No	ClinGen 1000Genomes TOPMed gnomAD
TCGA novel	247	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA350311092 rs750194898	247	V>F		No	ClinGen ExAC TOPMed gnomAD
CA2057165 rs750194898	247	V>I		No	ClinGen ExAC TOPMed gnomAD
CA350311075 rs1203929217	248	R>C		No	ClinGen TOPMed gnomAD
CA2057163 rs147555270	248	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2057162 rs751524200	250	M>I		No	ClinGen ExAC gnomAD
CA350311049 rs1244189507	250	M>T		No	ClinGen TOPMed
CA350311056 rs1214167582	250	M>V		No	ClinGen TOPMed
TCGA novel	252	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2057161 rs369042537	252	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs376814296 CA2057159	253	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
RCV000903660 rs558366774	254	W>missing		No	ClinVar dbSNP
CA350310924 rs1431489098	254	W>*		No	ClinGen TOPMed gnomAD
CA350310974 rs1254897494	254	W>R		No	ClinGen TOPMed
CA350310907 rs1407176413	255	P>L		No	ClinGen TOPMed
CA350310900 rs1176219126	256	Q>L		No	ClinGen gnomAD
CA350310884 rs1559015045	257	E>K		No	ClinGen Ensembl
CA2057156 rs773522244	259	P>A		No	ClinGen ExAC TOPMed gnomAD
rs773522244 CA2057155 COSM307653	259	P>S	kidney [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs200908080 CA350310814	260	D>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs200908080 CA2057153	260	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs774907309 CA2057152	261	I>M		No	ClinGen ExAC gnomAD
rs558191957 CA2057151	262	P>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA350310707 rs1214248688	263	C>*		No	ClinGen gnomAD
rs780164165 CA2057149	263	C>F		No	ClinGen ExAC gnomAD
rs1292941345 CA350310674	264	M>I		No	ClinGen gnomAD
CA2057148 rs199986951	264	M>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1201300877 CA350310670	265	D>N		No	ClinGen gnomAD
CA2057146 rs781185345	266	A>T		No	ClinGen ExAC TOPMed gnomAD
CA350310569 rs1215400176	269	P>S		No	ClinGen TOPMed gnomAD
rs751521547 CA2057144	270	F>L		No	ClinGen ExAC TOPMed gnomAD
rs1008785212 CA63959311	272	K>N		No	ClinGen TOPMed
CA2057141 rs375954290	273	G>A		No	ClinGen ESP ExAC gnomAD
CA350310431 rs1422449461	274	D>G		No	ClinGen TOPMed gnomAD
CA2057140 rs764824999	274	D>N		No	ClinGen ExAC gnomAD
CA350310424 rs1422449461	274	D>V		No	ClinGen TOPMed gnomAD
TCGA novel	274	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2057137 rs759225136	277	Q>H		No	ClinGen ExAC gnomAD
rs372695504 CA2057135	280	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA350310296 rs1231806403	280	D>N		No	ClinGen TOPMed
CA2057134 rs367713475	281	Q>*		No	ClinGen ESP ExAC gnomAD
CA350310200 rs1357356226	282	N>Y		No	ClinGen Ensembl
CA350310122 rs1478076328	284	A>T		No	ClinGen gnomAD
rs774734509 CA2057133	284	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA350310075 rs1178904898	286	W>*		No	ClinGen TOPMed
CA2057131 rs201910298	290	R>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA350309937 rs201910298	290	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA2057130 rs371295320	290	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs769975863 CA2057129	291	K>E		No	ClinGen ExAC gnomAD
rs368182880 CA2057127	292	I>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA2057128 rs368182880	292	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1214001939 CA350309844	294	D>N		No	ClinGen gnomAD
CA63959233 rs912176310	295	P>A		No	ClinGen TOPMed
TCGA novel	295	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs770857733 CA2057126	295	P>R		No	ClinGen ExAC gnomAD
CA350309751 rs1285071750	296	A>G		No	ClinGen TOPMed gnomAD
rs756187447 CA2057125	297	T>A		No	ClinGen ExAC gnomAD
CA2057124 rs777591391	298	C>Y		No	ClinGen ExAC gnomAD
CA2057122 rs776979135	299	A>S		No	ClinGen ExAC TOPMed gnomAD
CA63959221 rs776979135	299	A>T		No	ClinGen ExAC TOPMed gnomAD
rs778442303 CA2057121	301	L>F		No	ClinGen ExAC gnomAD
CA2057120 rs754471935	301	L>R		No	ClinGen ExAC gnomAD
TCGA novel	302	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1349680681 CA350309595	302	V>I		No	ClinGen TOPMed
rs374649060 CA2057118	303	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA350309522 rs1271733042	304	S>F		No	ClinGen TOPMed
CA2057117 rs765948241	305	N>D		No	ClinGen ExAC gnomAD
CA2057116 rs370916515	306	H>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA63959157 rs1022422431	307	L>F		No	ClinGen gnomAD
CA2057115 rs751912087	308	L>P		No	ClinGen ExAC gnomAD
CA63959137 rs955800047	309	K>N		No	ClinGen Ensembl
TCGA novel	310	R>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA63950562 rs966597376	313	R>Q		No	ClinGen TOPMed gnomAD
CA2057073 rs565701012	313	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	315	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA350305896 rs1222875367	317	W>*		No	ClinGen gnomAD
TCGA novel	319	Q>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs377589827 COSM86898 CA2057071	320	P>L	ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs377589827 CA2057072	320	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA350305771 rs1361336107	320	P>S		No	ClinGen TOPMed gnomAD
rs1574622638 CA350305736	321	Y>S		No	ClinGen Ensembl
CA350305683 rs1359861837	322	Q>H		No	ClinGen gnomAD
CA350305693 rs1332301487	322	Q>R		No	ClinGen TOPMed
CA350305672 rs1297156242	323	P>T		No	ClinGen TOPMed gnomAD
CA350305635 rs1384420124	324	H>P		No	ClinGen TOPMed gnomAD
CA350305629 rs1384420124	324	H>R		No	ClinGen TOPMed gnomAD
CA2057067 rs573231898	325	T>I		No	ClinGen ExAC TOPMed gnomAD
rs1574622623 CA350305621	325	T>P		No	ClinGen Ensembl
CA350305588 rs1298138877	326	C>Y		No	ClinGen gnomAD
TCGA novel	328	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs754371543 CA2057066	329	S>A		No	ClinGen ExAC gnomAD
rs373307503 CA2057065	329	S>L		No	ClinGen ESP ExAC gnomAD
rs754371543 CA350305530	329	S>P		No	ClinGen ExAC gnomAD
CA2057063 rs547493023	331	L>V		No	ClinGen 1000Genomes ExAC gnomAD
rs1172695731 CA350305459	332	S>P		No	ClinGen gnomAD
rs1422408126 CA350303348	333	I>V		No	ClinGen gnomAD
rs868155753 CA63946534	337	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs1471319364 CA350301450	338	E>D		No	ClinGen gnomAD
rs1256687781 CA350303148	338	E>K		No	ClinGen gnomAD
CA350301378 rs1236418012	340	D>G		No	ClinGen gnomAD
rs1461831301 CA350301343	341	M>R		No	ClinGen gnomAD
CA350301361 rs1198026392	341	M>V		No	ClinGen gnomAD
rs1264886163 CA350301286	343	I>V		No	ClinGen gnomAD
rs1157197023 CA350301202	347	C>R		No	ClinGen gnomAD
CA2057010 rs776614930	348	V>M		No	ClinGen ExAC gnomAD
CA350301098 rs1373797199	350	A>V		No	ClinGen TOPMed
rs776187755 CA63941872	352	E>*		No	ClinGen TOPMed
CA63941871 rs776187755	352	E>K		No	ClinGen TOPMed
CA2056989 rs760284515	353	E>*		No	ClinGen ExAC gnomAD
rs749912956 CA2056988	356	E>A		No	ClinGen ExAC TOPMed gnomAD
CA350300551 rs1172691157	356	E>D		No	ClinGen gnomAD
rs767114695 CA2056987	358	E>*		No	ClinGen ExAC gnomAD
rs771121670 CA63939247	359	E>K		No	ClinGen TOPMed
CA350298331 rs763755987	360	L>F		No	ClinGen ExAC TOPMed gnomAD
CA2056966 rs763755987	360	L>V		No	ClinGen ExAC TOPMed gnomAD
rs759852085 CA2056965	361	S>A		No	ClinGen ExAC gnomAD
CA350298313 rs759852085	361	S>P		No	ClinGen ExAC gnomAD
CA2056964 rs371999523	363	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs866393371 CA63937978	367	F>L		No	ClinGen Ensembl
rs528972968 CA2056941	371	G>S		No	ClinGen ExAC gnomAD
rs1309544718 CA350296795	372	Q>P		No	ClinGen gnomAD
TCGA novel	374	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA350296740 rs1374074147	374	F>Y		No	ClinGen TOPMed gnomAD
CA2056937 rs769726544	376	I>T		No	ClinGen ExAC gnomAD
CA350295955 rs1433286541	378	G>C		No	ClinGen TOPMed
rs1305064341 CA350295952	378	G>D		No	ClinGen TOPMed
CA350295945 rs1158391060	379	F>S		No	ClinGen gnomAD
COSM1404518 COSM1404517 CA2056925 rs542804992	380	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs774716027 CA2056924	380	R>H		No	ClinGen ExAC TOPMed gnomAD
CA2056923 rs375529816	381	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs763070629 CA2056922	381	R>H		No	ClinGen ExAC TOPMed gnomAD
rs375529816 CA350295932	381	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA2056921 rs775879802	383	M>I		No	ClinGen ExAC TOPMed gnomAD
rs1218338256 CA350295902	383	M>L		No	ClinGen gnomAD
rs141592467 COSM1014936 CA2056920 COSM1014937	384	R>C	large_intestine endometrium [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA2056919 rs746059241	384	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA350295890 rs141592467	384	R>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA63935957 rs949257420	386	C>R		No	ClinGen TOPMed
rs762869669 CA63935956	387	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
COSM1215429 rs916426855 CA63935955 COSM1215430	387	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA350295844 rs916426855	387	R>L		No	ClinGen TOPMed gnomAD
rs1392907565 CA350295811	390	S>T		No	ClinGen TOPMed
CA350295792 rs1574602931	391	H>P		No	ClinGen Ensembl
rs776541345 CA2056918	393	S>T		No	ClinGen ExAC
CA350295747 rs151268037	394	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs151268037 CA2056917	394	P>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1378646883 CA350295742	395	L>Q		No	ClinGen TOPMed
CA350295726 rs1402245514	396	H>R		No	ClinGen gnomAD
rs1466091886 CA350295732	396	H>Y		No	ClinGen Ensembl
CA350295718 rs1358793038	397	A>T		No	ClinGen gnomAD
rs375702817 CA2056915	397	A>V		No	ClinGen ESP ExAC gnomAD
rs1402513135 CA350295694	398	S>N		No	ClinGen TOPMed
COSM719765 rs1351723521 COSM719766 CA350295682	399	V>L	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs1424257494 CA350295596	403	G>D		No	ClinGen gnomAD
rs371720645 CA350295604	403	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs371720645 CA2056913	403	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1325415883 CA350295562	405	C>S		No	ClinGen TOPMed
CA350295546 rs778570635	406	Y>H		No	ClinGen ExAC gnomAD
CA2056911 rs778570635	406	Y>N		No	ClinGen ExAC gnomAD
CA350295527 rs1260559177	407	S>G		No	ClinGen TOPMed gnomAD
rs754666824 CA350295519	407	S>I		No	ClinGen ExAC TOPMed gnomAD
rs754666824 CA2056910	407	S>N		No	ClinGen ExAC TOPMed gnomAD
CA350295525 rs1260559177	407	S>R		No	ClinGen TOPMed gnomAD
CA63935902 rs368134460	409	V>A		No	ClinGen ESP TOPMed
rs368134460 CA350295477	409	V>G		No	ClinGen ESP TOPMed
rs1559004390 CA350295466	410	G>C		No	ClinGen Ensembl
CA350295461 rs1489162509	410	G>V		No	ClinGen gnomAD
CA350295430 rs1263228342	411	A>D		No	ClinGen gnomAD
TCGA novel	412	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA350295377 rs368866347	413	Y>*		No	ClinGen ExAC TOPMed gnomAD
rs1317943510 CA350295351	414	E>G		No	ClinGen TOPMed
CA2056907 rs757496706	414	E>K		No	ClinGen ExAC TOPMed gnomAD
CA350295282 rs1295080986	415	E>D		No	ClinGen TOPMed gnomAD
CA350295293 rs1338940550	415	E>G		No	ClinGen TOPMed gnomAD
rs1220790036 CA350295319	415	E>K		No	ClinGen gnomAD
rs1574602793 CA350295253	416	V>G		No	ClinGen Ensembl
CA2056906 rs545012074	416	V>M		No	ClinGen 1000Genomes ExAC gnomAD
CA350295236 rs1574602789	417	V>G		No	ClinGen Ensembl
CA2056905 rs577533704	418	R>K		No	ClinGen 1000Genomes ExAC gnomAD
rs1461002383 CA350295131	419	Y>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1574602780 CA350295153	419	Y>D		No	ClinGen Ensembl
CA350295105 rs1400883605	420	Q>E		No	ClinGen gnomAD
CA350295120 rs1400883605	420	Q>K		No	ClinGen gnomAD
rs763154493 CA2056904	421	R>*		No	ClinGen ExAC TOPMed gnomAD
CA63935835 rs1027142999	421	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs752861200 CA2056903	422	R>C		No	ClinGen ExAC TOPMed gnomAD
rs200543394 COSM1215428 CA350295074 COSM1215427	422	R>H	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs200543394 CA2056902	422	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA63935791 rs943941668	423	P>L		No	ClinGen TOPMed gnomAD
CA350294975 rs1438857398	425	D>E		No	ClinGen TOPMed
CA350294998 rs1259219016	425	D>N		No	ClinGen gnomAD
CA350294923 rs1201112599	426	K>N		No	ClinGen gnomAD
rs780055977 CA2056900	428	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA2056899 rs770767656	428	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1380341326 CA350294841	429	L>F		No	ClinGen TOPMed
rs773226821 CA2056897	430	I>M		No	ClinGen ExAC gnomAD
rs760332476 CA2056898	430	I>T		No	ClinGen ExAC gnomAD
CA350294820 rs1234432201	430	I>V		No	ClinGen gnomAD
rs532025784 CA63935768	431	V>A		No	ClinGen TOPMed gnomAD
CA63935767 rs532025784	431	V>E		No	ClinGen TOPMed gnomAD
TCGA novel	432	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA350294690 rs1405400763	433	M>T		No	ClinGen gnomAD
rs533499045 CA2056880	435	P>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs533499045 CA350293944	435	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs760552079 CA350293903	437	G>A		No	ClinGen ExAC gnomAD
rs760552079 CA2056879	437	G>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs772923578 CA2056878	438	V>D		No	ClinGen ExAC gnomAD
CA63934812 rs924883866	438	V>I		No	ClinGen gnomAD
CA350293848 rs771833495	440	V>I		No	ClinGen ExAC TOPMed gnomAD
CA63934805 rs771833495 CA2056877	440	V>L		No	ClinGen ExAC TOPMed gnomAD
CA63934798 rs367748582	442	E>K		No	ClinGen ESP
rs761798134 CA2056876	447	L>F		No	ClinGen ExAC gnomAD
rs1255921416 CA350293657	447	L>P		No	ClinGen gnomAD
rs774267746 CA2056875	448	I>V		No	ClinGen ExAC gnomAD
rs768167576 CA2056874	449	E>K		No	ClinGen ExAC
rs867573346 CA63934772	452	P>S		No	ClinGen Ensembl
rs748696402 CA2056872	454	H>Y		No	ClinGen ExAC gnomAD
rs769370615 CA2056870	457	S>R		No	ClinGen ExAC TOPMed gnomAD
rs775238557 CA2056871	457	S>T		No	ClinGen ExAC gnomAD
CA2056869 rs745508809	460	P>L		No	ClinGen ExAC TOPMed gnomAD
rs778337250 CA350293356	461	H>D		No	ClinGen ExAC TOPMed gnomAD
COSM719774 rs778337250 CA350293355 COSM719773	461	H>N	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs778337250 CA2056868	461	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs1211558720 CA350291958	462	T>I		No	ClinGen gnomAD
CA350291905 rs373969080	464	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs199896394 CA2056855	464	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA2056856 rs373969080	464	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA350291873 rs1342190958	466	K>E		No	ClinGen gnomAD
TCGA novel	467	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs774909922 CA2056853	468	S>C		No	ClinGen ExAC TOPMed gnomAD
rs745569717 CA2056851	469	Y>C		No	ClinGen ExAC gnomAD
rs769331389 CA2056852	469	Y>D		No	ClinGen ExAC gnomAD
COSM273603 rs772583255 CA2056849 COSM1014935	470	E>K	Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs373439464 CA63931199	472	N>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs373439464 CA2056848	472	N>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA2056847 rs779597510	473	G>W		No	ClinGen ExAC
rs369705514 CA2056846 COSM287603	474	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs190854787 CA2056845	474	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1223436920 CA350291623	475	E>G		No	ClinGen gnomAD
CA2056844 rs373199969	476	Y>H		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	476	Y>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA63931160 rs750649233	478	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA2056842 rs750649233	478	Y>F		No	ClinGen ExAC TOPMed gnomAD
CA2056843 rs756214345	478	Y>H		No	ClinGen ExAC gnomAD
rs757075009 CA2056840	479	V>A		No	ClinGen ExAC gnomAD
rs767678219 CA2056841	479	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1008286321 CA63931146	480	S>C		No	ClinGen Ensembl
CA63931138 rs935764326	483	T>I		No	ClinGen TOPMed
CA63931136 rs904236270	484	F>C		No	ClinGen TOPMed gnomAD
CA63931123 rs867677753	487	L>I		No	ClinGen Ensembl
CA63931103 rs889794732	488	I>M		No	ClinGen Ensembl
rs763924815 CA2056837	488	I>T		No	ClinGen ExAC gnomAD
rs1270704912 CA350291255	488	I>V		No	ClinGen gnomAD
rs775490563 CA2056835	489	Y>C		No	ClinGen ExAC gnomAD
rs762854010 CA2056836	489	Y>H		No	ClinGen ExAC gnomAD
rs1410754517 CA350291166	492	R>G		No	ClinGen TOPMed
CA2056825 rs749828792	496	Y>H		No	ClinGen ExAC gnomAD
rs550748540 CA2056823	501	G>V		No	ClinGen 1000Genomes ExAC gnomAD
CA2056821 rs781215566	502	H>R		No	ClinGen ExAC TOPMed gnomAD
rs745906480 CA2056822	502	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs532633978 CA2056819	504	Y>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA350290678 rs1420978774	506	T>I		No	ClinGen gnomAD
CA2056818 rs751764458	507	S>I		No	ClinGen ExAC gnomAD
rs1176591360 CA350290628	508	V>L		No	ClinGen gnomAD
CA350290597 rs1472990599	509	D>N		No	ClinGen gnomAD
rs1404937521 CA350290542	510	A>D		No	ClinGen TOPMed
rs149460002 CA2056817	511	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs758141689 CA350290434	513	T>I		No	ClinGen ExAC gnomAD
rs758141689 CA2056816	513	T>R		No	ClinGen ExAC gnomAD
CA2056813 rs577897740	517	E>K		No	ClinGen ExAC TOPMed gnomAD
CA350290227 rs1362905688	519	K>N		No	ClinGen TOPMed
CA2056812 rs753442752	520	I>S		No	ClinGen ExAC TOPMed gnomAD
rs1305469615 CA350290171	522	V>I		No	ClinGen gnomAD
rs1574596401 CA350290107	523	M>I		No	ClinGen Ensembl
rs931179088 CA63930615	525	L>I		No	ClinGen TOPMed
CA2056811 rs543230846	526	E>G		No	ClinGen ExAC gnomAD
rs747233817 CA2056800	531	Q>L		No	ClinGen ExAC gnomAD
rs1355267112 CA350289272	532	G>R		No	ClinGen gnomAD
CA350289223 rs1316217195	533	V>I		No	ClinGen TOPMed
rs369650968 COSM282856 CA2056799 COSM1014932	534	R>*	Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA2056798 rs376987570	534	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA63929395 rs775762268	535	T>A		No	ClinGen TOPMed
CA350289179 rs775762268	535	T>S		No	ClinGen TOPMed
rs1359944916 CA350289043	539	K>E		No	ClinGen gnomAD
rs1288290265 CA350289021	539	K>N		No	ClinGen TOPMed gnomAD
rs1396532355 CA350288974	540	P>L		No	ClinGen gnomAD
rs752500281 CA2056797	540	P>T		No	ClinGen ExAC gnomAD
rs1460711584 CA350288959	541	Y>C		No	ClinGen TOPMed gnomAD
CA2056794 rs201812468	543	I>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA63929382 rs933683419	543	I>T		No	ClinGen TOPMed gnomAD
rs372356712 CA2056795	543	I>V		No	ClinGen ESP ExAC TOPMed
TCGA novel	544	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2056792 rs766054986	545	I>R		No	ClinGen ExAC gnomAD
TCGA novel	546	K>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1212419628 CA350288704	546	K>N		No	ClinGen gnomAD
CA350288730 rs1255407403	546	K>R		No	ClinGen gnomAD
CA63929374 rs920917305	547	P>A		No	ClinGen TOPMed
CA2056789 rs538660188	548	S>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs767149982 CA2056786	549	N>S		No	ClinGen ExAC gnomAD
CA350288508 rs1305921958	550	M>T		No	ClinGen gnomAD
CA2056784 rs374517920	551	R>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA2056783 rs765571562	551	R>S		No	ClinGen ExAC gnomAD
rs760099681 CA2056782	552	C>R		No	ClinGen ExAC gnomAD
rs775629718 CA350288376	552	C>S		No	ClinGen ExAC gnomAD
rs775629718 CA2056781	552	C>Y		No	ClinGen ExAC gnomAD
CA350288231 rs1400948441	555	Q>E		No	ClinGen gnomAD
rs1460297458 CA350288170	556	S>F		No	ClinGen TOPMed gnomAD
CA2056777 rs374070488	557	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs367601144 CA2056778	557	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA2056776 rs748299578	558	K>E		No	ClinGen ExAC gnomAD
COSM1215424 COSM1215423 CA63929291 rs1029466616	560	A>V	large_intestine [Cosmic]	No	ClinGen cosmic curated Ensembl
CA350288002 rs11894115	562	V>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2056773 rs749244919	562	V>G		No	ClinGen ExAC gnomAD
CA2056774 rs11894115 VAR_050015	562	V>I		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs780082826 CA2056772	563	I>V		No	ClinGen ExAC gnomAD
CA350287910 rs1197871344	564	T>I		No	ClinGen gnomAD
CA63929285 rs35712120	566	Y>*		No	ClinGen Ensembl
CA350287858 rs1479879496	566	Y>C		No	ClinGen gnomAD
CA350287756 rs1350144719	569	D>V		No	ClinGen gnomAD
rs578204777 CA63929280	570	M>I		No	ClinGen TOPMed gnomAD
CA350287744 rs1301262653	570	M>V		No	ClinGen TOPMed gnomAD
TCGA novel	571	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs374394270 CA2056769	571	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs374394270 CA350287688	571	K>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs572631832 CA63965336	574	D>N		No	ClinGen 1000Genomes gnomAD
rs762246452 CA2056749	576	D>G		No	ClinGen ExAC TOPMed gnomAD
CA350318954 rs1240159492	581	E>K		No	ClinGen TOPMed
CA350318947 rs1452185407	581	E>V		No	ClinGen gnomAD
TCGA novel	582	N>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA350318924 rs1456360251	583	L>S		No	ClinGen gnomAD
rs777051484 CA63965320	583	L>V		No	ClinGen gnomAD
rs1476409592 CA350318908	584	A>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA350318916 rs1189034269	584	A>T		No	ClinGen TOPMed gnomAD
CA2056748 rs763683055	585	Q>E		No	ClinGen ExAC TOPMed gnomAD
rs1040588903 CA63965311 COSM3838298 COSM3838299	585	Q>L	Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated Ensembl NCI-TCGA
TCGA novel	586	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs943535782 CA63965306	586	R>K		No	ClinGen TOPMed gnomAD
CA2056747 rs755362986	588	E>K		No	ClinGen ExAC gnomAD
CA350318857 rs1286510597	588	E>V		No	ClinGen gnomAD
CA2056746 rs372490544	589	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs372490544 CA63965285	589	T>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs979549409 CA63965278	594	F>L		No	ClinGen TOPMed gnomAD
TCGA novel	595	F>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1559593596 CA350318753	596	D>Y		No	ClinGen Ensembl
rs1292283346 CA350318715	598	V>A		No	ClinGen gnomAD
rs1325365511 CA350318703	599	I>T		No	ClinGen gnomAD
CA350318652 rs367956727	602	D>E		No	ClinGen gnomAD
CA350318589 rs1315542609	606	D>H		No	ClinGen gnomAD
rs1315542609 CA350318591	606	D>N		No	ClinGen gnomAD
rs147373901 CA2056741	608	C>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA350318573 rs147373901	608	C>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs767640680 CA2056740	608	C>Y		No	ClinGen ExAC gnomAD
CA350318563 rs1375713027	609	A>V		No	ClinGen TOPMed
rs761743947 CA2056739	610	Q>L		No	ClinGen ExAC TOPMed gnomAD
rs774736833 CA2056737	615	I>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA63965188 rs867244670	616	Q>E		No	ClinGen Ensembl
CA2056736 rs199999140	617	K>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2056735 rs763245242	619	Q>E		No	ClinGen ExAC gnomAD
CA350318473 rs1332830139	620	E>*		No	ClinGen TOPMed
CA63965174 rs866986220	621	E>D		No	ClinGen Ensembl
CA350318431 rs1215536185	623	Q>R		No	ClinGen gnomAD
CA2056733 rs775483357	625	V>I		No	ClinGen ExAC TOPMed gnomAD
CA63965162 rs955978837	627	A>E		No	ClinGen TOPMed
rs1264273020 CA350318358	629	W>*		No	ClinGen TOPMed
CA2056731 rs745821403	629	W>*		No	ClinGen ExAC gnomAD
CA2056732 rs769470772	629	W>R		No	ClinGen ExAC TOPMed gnomAD
rs1268078312 CA350318333	630	I>T		No	ClinGen gnomAD
TCGA novel	633	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2056730 rs770495309	635	E>K		No	ClinGen ExAC TOPMed gnomAD
rs770495309 CA2056729	635	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA2056727 rs199777004	637	Q>*		No	ClinGen ExAC TOPMed gnomAD

No associated diseases with Q96JB8

4 regional properties for Q96JB8

Type	Name	Position	InterPro Accession
domain	Protein kinase domain	34 - 292	IPR000719
domain	UVR domain	875 - 910	IPR001943
active_site	Serine/threonine-protein kinase, active site	151 - 163	IPR008271
binding_site	Protein kinase, ATP binding site	40 - 63	IPR017441

Functions

		Description
EC Number
Subcellular Localization	Cytoplasm	Detected at the outer limiting membrane (OLM) and in the outer plexiform layer (OPL) of the retina At the OLM, detected apical to the adherens junction (AJ)
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

6 GO annotations of cellular component

Name	Definition
actin cytoskeleton	The part of the cytoskeleton (the internal framework of a cell) composed of actin and associated proteins. Includes actin cytoskeleton-associated complexes.
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.
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.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
protein-containing complex	A stable assembly of two or more macromolecules, i.e. proteins, nucleic acids, carbohydrates or lipids, in which at least one component is a protein and the constituent parts function together.

No GO annotations of molecular function

Name	Definition
No GO annotations for molecular function

1 GO annotations of biological process

Name	Definition
protein localization to synapse	Any process in which a protein is transported to, and/or maintained at the synapse, the junction between a nerve fiber of one neuron and another neuron or muscle fiber or glial cell.

14 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q24210	CASK	Peripheral plasma membrane protein CASK	Drosophila melanogaster (Fruit fly)	SS
Q00013	MPP1	55 kDa erythrocyte membrane protein	Homo sapiens (Human)	PR
O14936	CASK	Peripheral plasma membrane protein CASK	Homo sapiens (Human)	EV
Q9NZW5	PALS2	Protein PALS2	Homo sapiens (Human)	PR
Q14168	MPP2	MAGUK p55 subfamily member 2	Homo sapiens (Human)	PR
Q9WV34	Mpp2	MAGUK p55 subfamily member 2	Mus musculus (Mouse)	PR
O70589	Cask	Peripheral plasma membrane protein CASK	Mus musculus (Mouse)	SS
P70290	Mpp1	55 kDa erythrocyte membrane protein	Mus musculus (Mouse)	PR
O88910	Mpp3	MAGUK p55 subfamily member 3	Mus musculus (Mouse)	PR
Q8BVD5	Mpp7	MAGUK p55 subfamily member 7	Mus musculus (Mouse)	PR
Q9JLB0	Pals2	Protein PALS2	Mus musculus (Mouse)	PR
Q6P7F1	Mpp4	MAGUK p55 subfamily member 4	Mus musculus (Mouse)	PR
Q9QYH1	Mpp4	MAGUK p55 subfamily member 4	Rattus norvegicus (Rat)	PR
P54936	lin-2	Protein lin-2	Caenorhabditis elegans	SS

10	20	30	40	50	60
MIQSDKGADP	PDKKDMKLST	ATNPQNGLSQ	ILRLVLQELS	LFYGRDVNGV	CLLYDLLHSP
70	80	90	100	110	120
WLQALLKIYD	CLQEFKEKKL	VPATPHAQVL	SYEVVELLRE	TPTSPEIQEL	RQMLQAPHFK
130	140	150	160	170	180
ALLSAHDTIA	QKDFEPLLPP	LPDNIPESEE	AMRIVCLVKN	QQPLGATIKR	HEMTGDILVA
190	200	210	220	230	240
RIIHGGLAER	SGLLYAGDKL	VEVNGVSVEG	LDPEQVIHIL	AMSRGTIMFK	VVPVSDPPVN
250	260	270	280	290	300
SQQMVYVRAM	TEYWPQEDPD	IPCMDAGLPF	QKGDILQIVD	QNDALWWQAR	KISDPATCAG
310	320	330	340	350	360
LVPSNHLLKR	KQREFWWSQP	YQPHTCLKST	LSISMEEEDD	MKIDEKCVEA	DEETFESEEL
370	380	390	400	410	420
SEDKEEFVGY	GQKFFIAGFR	RSMRLCRRKS	HLSPLHASVC	CTGSCYSAVG	APYEEVVRYQ
430	440	450	460	470	480
RRPSDKYRLI	VLMGPSGVGV	NELRRQLIEF	NPSHFQSAVP	HTTRTKKSYE	MNGREYHYVS
490	500	510	520	530	540
KETFENLIYS	HRMLEYGEYK	GHLYGTSVDA	VQTVLVEGKI	CVMDLEPQDI	QGVRTHELKP
550	560	570	580	590	600
YVIFIKPSNM	RCMKQSRKNA	KVITDYYVDM	KFKDEDLQEM	ENLAQRMETQ	FGQFFDHVIV
610	620	630
NDSLHDACAQ	LLSAIQKAQE	EPQWVPATWI	SSDTESQ