AiPD: Autoinhibited Protein Database

Q6P1M3

Gene name	LLGL2
Protein name	LLGL scribble cell polarity complex component 2
Names	HGL, Lethal(2) giant larvae protein homolog 2
Species	Homo sapiens (Human)
KEGG Pathway	hsa:3993
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

613-707 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

613-707 (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

7 structures for Q6P1M3

Entry ID	Method	Resolution	Chain	Position	Source
3WP0	X-ray	204 A	B	640-654	PDB
3WP1	X-ray	280 A	A	646-657	PDB
6N8P	X-ray	319 A	A	12-978	PDB
6N8Q	X-ray	220 A	A	12-978	PDB
6N8R	X-ray	191 A	A	12-978	PDB
6N8S	X-ray	390 A	A/D	12-978	PDB
AF-Q6P1M3-F1	Predicted				AlphaFoldDB

984 variants for Q6P1M3

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs758332714 CA8764515	3	R>Q		No	ClinGen ExAC gnomAD
rs201392252 CA294049508	3	R>W		No	ClinGen gnomAD
CA401026249 rs1430276666	4	F>L		No	ClinGen gnomAD
rs373774180 CA401026266	6	R>S		No	ClinGen ExAC TOPMed gnomAD
rs748363376 CA8764517	7	P>S		No	ClinGen ExAC gnomAD
rs756169094 CA8764518	8	G>A		No	ClinGen ExAC gnomAD
rs1271068279 CA401026273	8	G>R		No	ClinGen gnomAD
rs947415414 CA294049558	13	R>Q		No	ClinGen TOPMed gnomAD
CA8764520 rs749734318	13	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA
CA401026335 rs1264619960	17	K>M		No	ClinGen gnomAD
CA401026334 rs1264619960	17	K>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs144528048 COSM232690 CA8764522	18	R>Q	skin [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA8764521 rs149303269	18	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1486701407 CA401026341	19	D>N		No	ClinGen TOPMed gnomAD
TCGA novel	20	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA294049628 CA401026360 rs1054439001	21	F>L		No	ClinGen TOPMed gnomAD
rs772466388 CA8764524	22	Q>H		No	ClinGen ExAC gnomAD
rs760272763 CA8764526	24	N>S		No	ClinGen ExAC gnomAD
rs763623087 CA8764527	25	K>N		No	ClinGen ExAC gnomAD
CA8764564 rs138134053	26	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA401027963 rs772853182	28	E>D		No	ClinGen ExAC TOPMed
rs920473906 CA294059714	29	H>R		No	ClinGen TOPMed
CA401027966 rs1326350881	29	H>Y		No	ClinGen gnomAD
CA8764570 rs755544035	32	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1247821190 CA401027992	33	H>L		No	ClinGen TOPMed gnomAD
rs1247821190 CA401027994	33	H>P		No	ClinGen TOPMed gnomAD
CA8764574 rs376986902 CA294059742	33	H>Q		No	ClinGen 1000Genomes ExAC gnomAD
rs1247821190 CA401027993	33	H>R		No	ClinGen TOPMed gnomAD
CA8764573 rs552446966	33	H>Y		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	34	Q>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA401028006 rs1338740487	35	P>L		No	ClinGen gnomAD
rs765238069 CA8764577	37	A>S		No	ClinGen ExAC TOPMed gnomAD
CA8764576 rs765238069	37	A>T		No	ClinGen ExAC TOPMed gnomAD
CA401028029 rs1462940504	39	G>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs905053501 CA294059763	39	G>S		No	ClinGen Ensembl
CA8764580 rs752154844	40	Y>*		No	ClinGen ExAC gnomAD
rs868300040 CA294059774	41	S>G		No	ClinGen TOPMed gnomAD
TCGA novel	41	S>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs142615248 CA8764582	42	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs755244871 CA8764581	42	P>T		No	ClinGen ExAC gnomAD
CA401028050 rs1598585532	43	S>A		No	ClinGen Ensembl
rs1598585563 CA401028059	44	L>P		No	ClinGen Ensembl
CA8764586 rs748801213	45	R>C		No	ClinGen ExAC TOPMed gnomAD
CA401028062 rs748801213	45	R>G		No	ClinGen ExAC TOPMed gnomAD
rs1671036 CA8764587 VAR_050069	45	R>H		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1671036 CA401028064	45	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8764588 rs774136253	46	I>M		No	ClinGen ExAC gnomAD
rs745841597 CA8764590	49	I>F		No	ClinGen ExAC gnomAD
CA8764589 rs745841597	49	I>V		No	ClinGen ExAC gnomAD
rs761967911 CA8764592	50	G>C		No	ClinGen ExAC TOPMed gnomAD
CA401028087 rs761967911	50	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA8764595 rs762917323	52	R>C		No	ClinGen ExAC gnomAD
CA8764596 rs766498095	52	R>H		No	ClinGen ExAC TOPMed gnomAD
CA8764597 rs766498095	52	R>L		No	ClinGen ExAC TOPMed gnomAD
CA401028115 rs1344310203	55	A>T		No	ClinGen TOPMed
rs1261527137 CA401028129	57	K>R		No	ClinGen gnomAD
CA8764652 rs772239392	59	Y>F		No	ClinGen ExAC gnomAD
rs1238352008 CA401028396	60	G>R		No	ClinGen gnomAD
rs761207269 CA8764654	61	A>V		No	ClinGen ExAC TOPMed
CA401028440 rs777074577	63	G>D		No	ClinGen ExAC gnomAD
rs777074577 CA8764656	63	G>V		No	ClinGen ExAC gnomAD
CA8764658 rs765539651	64	V>M		No	ClinGen ExAC gnomAD
rs149829375 CA8764660	67	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA294061201 rs970969955	68	G>A		No	ClinGen Ensembl
CA401028513 rs970969955	68	G>E		No	ClinGen Ensembl
rs1467206018 CA401028534	70	H>Y		No	ClinGen gnomAD
TCGA novel	72	E>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA401028589 rs1450708493	73	N>S		No	ClinGen gnomAD
rs1339164099 CA401028604	74	N>S		No	ClinGen gnomAD
CA401028613 rs1325397060	75	A>T		No	ClinGen TOPMed
CA401028623 rs1382190815	75	A>V		No	ClinGen TOPMed gnomAD
rs140195852 CA8764664	77	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs140931096 CA8764666	78	Q>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA401028689 rs755890954	80	H>P		No	ClinGen ExAC gnomAD
CA8764667 rs755890954	80	H>R		No	ClinGen ExAC gnomAD
CA294061238 rs911314068	81	L>F		No	ClinGen Ensembl
rs768661779 CA401028740	84	G>D		No	ClinGen ExAC TOPMed gnomAD
CA8764672 rs147740967	84	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs147740967 CA8764671	84	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs768661779 CA8764673	84	G>V		No	ClinGen ExAC TOPMed gnomAD
rs773943255 CA8764697	86	C>Y		No	ClinGen ExAC TOPMed gnomAD
CA401028869 rs1469859247	89	V>I		No	ClinGen gnomAD
CA8764698 rs540119342	90	T>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA401028878 rs1598593934	90	T>P		No	ClinGen Ensembl
CA294061416 rs949812763	91	L>P		No	ClinGen Ensembl
CA8764699 rs766986353	92	L>V		No	ClinGen ExAC TOPMed gnomAD
rs1163521933 CA401028914	93	D>N		No	ClinGen gnomAD
CA401028931 rs1474549742	94	D>G		No	ClinGen TOPMed
CA294061452 rs902874425	94	D>N		No	ClinGen Ensembl
CA401028942 rs1407561996	95	N>D		No	ClinGen gnomAD
CA401028947 rs1417776439	95	N>S		No	ClinGen TOPMed
rs1417776439 CA401028945	95	N>T		No	ClinGen TOPMed
rs1325007490 CA401028974	96	S>R		No	ClinGen gnomAD
rs1441065838 CA401028997	98	H>L		No	ClinGen gnomAD
rs1183459021 CA401029025	100	W>*		No	ClinGen TOPMed
rs1378852168 CA401029044	101	S>N		No	ClinGen gnomAD
rs1052547025 CA401029078	103	K>N		No	ClinGen TOPMed gnomAD
rs760292447 CA8764701	104	V>A		No	ClinGen ExAC TOPMed gnomAD
CA294061463 rs774877468	104	V>F		No	ClinGen ExAC gnomAD
CA8764700 rs774877468	104	V>I		No	ClinGen ExAC gnomAD
rs757100101 CA8764704	107	G>E		No	ClinGen ExAC TOPMed gnomAD
rs370768544 CA8764703	107	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA8764705 rs765149693	108	A>S		No	ClinGen ExAC gnomAD
CA8764706 rs374460517	109	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA8764707 rs374460517	109	S>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1288397382 CA401029158	110	E>G		No	ClinGen gnomAD
CA8764709 rs377004371	110	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA401029211 rs1304208651	114	D>N		No	ClinGen TOPMed
CA294061499 rs1018893764	119	L>P		No	ClinGen gnomAD
rs1408799294 CA401029307	120	R>C		No	ClinGen gnomAD
CA8764711 rs373994073	120	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA294061501 rs199993387	122	P>L		No	ClinGen Ensembl
rs201164163 CA8764712	122	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs201164163 CA8764713	122	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1447040815 CA401029338	123	P>A		No	ClinGen TOPMed gnomAD
CA401029341 rs1447040815	123	P>S		No	ClinGen TOPMed gnomAD
rs769847017 CA401029509	127	P>A		No	ClinGen ExAC gnomAD
rs769847017 CA8764739	127	P>T		No	ClinGen ExAC gnomAD
CA401030044 rs1568053177	128	S>R		No	ClinGen Ensembl
rs1198259479	128	S>V	Variant assessed as Somatic; 4.923e-05 impact. [NCI-TCGA]	No	NCI-TCGA
CA8764740 rs773239055	129	A>V		No	ClinGen ExAC gnomAD
rs1383929126 CA401030122	132	I>M		No	ClinGen gnomAD
rs1417820004 CA401030136	133	T>I		No	ClinGen gnomAD
rs1598598132 CA401030126	133	T>P		No	ClinGen Ensembl
rs766217868 CA8764742	134	V>G		No	ClinGen ExAC gnomAD
rs372160474 CA8764741	134	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs752820818 CA8764743	135	V>I		No	ClinGen ExAC gnomAD
CA8764744 rs760890911	136	L>V		No	ClinGen ExAC gnomAD
rs753902766 CA8764746	138	H>Y		No	ClinGen ExAC gnomAD
CA401030212 rs757395770	139	S>C		No	ClinGen ExAC gnomAD
rs757395770 CA8764747	139	S>F		No	ClinGen ExAC gnomAD
rs757395770 CA401030211	139	S>Y		No	ClinGen ExAC gnomAD
rs765704394 CA8764748	141	C>R		No	ClinGen ExAC gnomAD
rs1239152262 CA401030221	141	C>Y		No	ClinGen TOPMed
CA8764749 rs201683909	142	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1328333326 CA401030243	144	L>P		No	ClinGen TOPMed
CA8764752 rs746580615	145	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA8764753 rs754659748	146	L>P		No	ClinGen ExAC gnomAD
rs1379479847 CA401030266	148	T>I		No	ClinGen gnomAD
rs200955265 CA294061924	149	E>G		No	ClinGen 1000Genomes
CA8764755 rs376753735	149	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs376753735 CA8764756	149	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs749278321 CA8764759	151	G>D		No	ClinGen ExAC gnomAD
rs772972859 CA8764758	151	G>S		No	ClinGen ExAC gnomAD
rs367612817 CA8764762	152	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA8764760 rs770564636	152	N>S		No	ClinGen ExAC TOPMed gnomAD
CA8764763 rs764296862	153	V>M		No	ClinGen ExAC gnomAD
rs974373621 CA294061961	157	Q>H		No	ClinGen Ensembl
rs964534334 CA294061951	157	Q>P		No	ClinGen Ensembl
CA401030332 rs1205603138	159	P>L		No	ClinGen TOPMed
TCGA novel	160	A>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM1589164 rs138074005 CA8764765 COSM984384	162	R>C	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs61744731 CA8764766	162	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs61744731 CA401030349	162	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8764767 rs61744731	162	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs758953390 CA8764768	163	A>V		No	ClinGen ExAC TOPMed gnomAD
rs751944797 CA8764770	165	E>A		No	ClinGen ExAC TOPMed gnomAD
rs374809535 CA8764772	167	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs144919589 CA8764773	167	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs374809535 CA8764771	167	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1051308639 CA401030381	168	T>I		No	ClinGen TOPMed gnomAD
rs1051308639 CA294062022	168	T>N		No	ClinGen TOPMed gnomAD
CA8764775 rs777341295	169	I>F		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	169	I>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs138748466 CA8764776	171	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs138748466 CA401030400	171	S>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA8764780 COSM162174 rs141069900	173	A>T	breast [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA8764781 rs148746317	173	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA294062089 rs1044884709	174	V>M		No	ClinGen TOPMed
rs773360042 CA8764784	175	L>P		No	ClinGen ExAC TOPMed gnomAD
CA8764787 rs368318098	177	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs368318098 CA8764786	177	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs200283598 CA8764785	177	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA401030714 rs1598609462	180	E>G		No	ClinGen Ensembl
rs1598609479 CA401030746	182	A>G		No	ClinGen Ensembl
CA401030739 rs1598609469	182	A>P		No	ClinGen Ensembl
rs767945152 CA8764808	183	R>C		No	ClinGen ExAC TOPMed gnomAD
CA8764809 rs569618479	183	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8764810 rs569618479	183	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8764807 rs767945152	183	R>S		No	ClinGen ExAC TOPMed gnomAD
CA8764811 rs753490919	184	H>N		No	ClinGen ExAC gnomAD
rs1296832459 CA401030769	184	H>P		No	ClinGen gnomAD
rs1296832459 CA401030767	184	H>R		No	ClinGen gnomAD
rs538530991 CA8764814	185	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs778397021 CA8764813	185	R>W		No	ClinGen ExAC TOPMed gnomAD
rs758350570 CA8764815	186	R>C		No	ClinGen ExAC TOPMed gnomAD
rs780012200 CA8764816	186	R>H		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	186	R>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs989330413 CA294067700	187	V>G		No	ClinGen gnomAD
CA8764818 rs755211863	188	F>L		No	ClinGen ExAC TOPMed gnomAD
CA8764819 rs371761340	189	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA401030842 rs1283714074	190	M>R		No	ClinGen gnomAD
rs1283714074 CA401030841	190	M>T		No	ClinGen gnomAD
CA401030887 rs1489227602	193	A>T		No	ClinGen gnomAD
CA401030891 rs1196742784	193	A>V		No	ClinGen TOPMed
CA401030945 rs1284738438	197	H>Y		No	ClinGen TOPMed
CA401030959 rs1246246313	198	P>S		No	ClinGen TOPMed gnomAD
rs774595912 CA8764822	199	R>*		No	ClinGen ExAC TOPMed gnomAD
rs774595912 CA401030974	199	R>G		No	ClinGen ExAC TOPMed gnomAD
CA294067761 rs201009590	199	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA8764823 rs373180529	201	P>L		No	ClinGen ESP ExAC gnomAD
CA8764824 rs772675552	202	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1157393292 CA401031002	203	Q>L		No	ClinGen gnomAD
rs776205394 CA8764825	204	I>M		No	ClinGen ExAC TOPMed gnomAD
CA8764826 rs377462870	207	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs764377907 CA8764827	208	Y>S		No	ClinGen ExAC
CA8764829 rs748525082	209	S>C		No	ClinGen ExAC TOPMed gnomAD
CA8764830 rs748525082	209	S>G		No	ClinGen ExAC TOPMed gnomAD
rs201741398 CA8764831	209	S>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs757974603 CA8764832	210	R>*		No	ClinGen ExAC TOPMed gnomAD
rs766294196 CA8764833	210	R>Q		No	ClinGen ExAC gnomAD
CA294067859 rs572740694	211	G>D		No	ClinGen Ensembl
CA401031103 rs1388187929	211	G>S		No	ClinGen TOPMed
CA8764835 rs754737971	213	V>I		No	ClinGen ExAC TOPMed gnomAD
CA401031134 rs754737971	213	V>L		No	ClinGen ExAC TOPMed gnomAD
rs780882675 CA8764836	214	V>I		No	ClinGen ExAC gnomAD
CA8764838 rs757531435	215	I>T		No	ClinGen ExAC gnomAD
CA401031259 rs1247446069	221	S>N		No	ClinGen gnomAD
CA8764840 rs745938438	222	R>C		No	ClinGen ExAC gnomAD
CA8764841 rs772335625	222	R>H		No	ClinGen ExAC TOPMed gnomAD
CA8764843 rs553982764	223	V>G		No	ClinGen 1000Genomes ExAC gnomAD
rs143338056 CA8764842	223	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	224	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA401031307 rs1412474084	225	Y>H		No	ClinGen gnomAD
CA8764844 rs769022823	228	L>F		No	ClinGen ExAC gnomAD
CA401031362 rs1568059975	228	L>H		No	ClinGen Ensembl
CA8764847 rs776878589	229	S>N		No	ClinGen ExAC gnomAD
TCGA novel	232	Q>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA401031508 rs1444674950	233	L>V		No	ClinGen TOPMed gnomAD
rs1369665906 CA401031537	235	N>D		No	ClinGen TOPMed
CA401031547 rs1211391232	235	N>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA8764870 rs773713307	237	W>*		No	ClinGen ExAC gnomAD
rs759127325 CA8764871	238	W>*		No	ClinGen ExAC gnomAD
CA401031577 rs1425413123	238	W>C		No	ClinGen gnomAD
CA401031589 rs1422767452	240	R>Q		No	ClinGen gnomAD
CA8764873 rs752737453	240	R>W		No	ClinGen ExAC gnomAD
rs1416134643 CA401031595	241	D>G		No	ClinGen gnomAD
rs763984358 CA8764875	242	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs147750930 CA8764877	243	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA8764878 rs780370026	243	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA401031604 rs147750930	243	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs755149481 CA8764880	245	L>F		No	ClinGen ExAC gnomAD
CA401031618 rs1235682339	246	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA401031628 rs1285848489	247	S>T		No	ClinGen TOPMed gnomAD
CA294068285 rs1047217411	248	C>G		No	ClinGen gnomAD
rs748662977 CA8764882	248	C>Y		No	ClinGen ExAC gnomAD
CA401031658 rs149668354	251	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs770107992 CA8764883	251	D>N		No	ClinGen ExAC TOPMed gnomAD
rs749704053 CA401031660	252	G>C		No	ClinGen ExAC gnomAD
CA8764885 rs749704053	252	G>S		No	ClinGen ExAC gnomAD
rs770460425 CA8764886	253	S>T		No	ClinGen ExAC gnomAD
CA294068306 rs1055500669	256	Q>H		No	ClinGen Ensembl
rs975338427 CA294068312	258	P>T		No	ClinGen TOPMed gnomAD
CA8764889 rs114747014	259	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs114747014 CA8764888	259	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA401031723 rs1598611037	261	S>I		No	ClinGen Ensembl
rs148822621 CA8764891	261	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA401031730 rs1303759438	262	E>G		No	ClinGen TOPMed
rs1160573739 CA401031725	262	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA294068370 rs1047218953	263	A>V		No	ClinGen TOPMed gnomAD
CA401031740 rs1386444405	264	Q>*		No	ClinGen gnomAD
rs143518179 CA8764893	266	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8764894 rs761736519	270	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs146449794 CA8764895	270	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA401031786 rs1308974672	271	S>N		No	ClinGen gnomAD
COSM1386004 COSM1386005 CA8764897 rs754950482	273	V>M	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA401031804 rs1262011644	274	P>S		No	ClinGen gnomAD
CA8764899 rs753156877	276	G>S		No	ClinGen ExAC TOPMed gnomAD
CA294068693 rs867556547	277	P>S		No	ClinGen Ensembl
CA401031842 rs1598612030	278	F>C		No	ClinGen Ensembl
CA8764923 rs745460281	281	K>Q		No	ClinGen ExAC TOPMed gnomAD
rs758043668 CA8764924	282	A>V		No	ClinGen ExAC gnomAD
rs1402193556 CA401031884	284	T>I		No	ClinGen gnomAD
CA8764926 rs746509659	285	R>G		No	ClinGen ExAC TOPMed gnomAD
CA8764928 rs776647855	286	I>T		No	ClinGen ExAC gnomAD
rs768335688 CA8764927	286	I>V		No	ClinGen ExAC gnomAD
CA8764930 rs769429997	289	L>P		No	ClinGen ExAC TOPMed gnomAD
rs773040901 CA8764933	290	T>I		No	ClinGen ExAC TOPMed gnomAD
CA8764932 rs773040901	290	T>N		No	ClinGen ExAC TOPMed gnomAD
CA294068756 rs906781686	290	T>S		No	ClinGen TOPMed gnomAD
rs773040901 CA8764931	290	T>S		No	ClinGen ExAC TOPMed gnomAD
CA8764935 rs760690036	292	R>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA8764937 CA401031934 rs567626540	293	Q>H		No	ClinGen 1000Genomes ExAC gnomAD
rs764163617 CA8764936	293	Q>R		No	ClinGen ExAC gnomAD
TCGA novel	294	G>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs770727300 CA8764950	295	L>M		No	ClinGen ExAC gnomAD
COSM3937567 rs1486989000 COSM3937568 COSM3937569 CA401031981	299	I>V	oesophagus [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1187279604 CA401032005	302	G>D		No	ClinGen gnomAD
rs199832141 CA294069396	306	R>G		No	ClinGen ExAC TOPMed gnomAD
CA8764952 rs760917491	306	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs199832141 CA8764951	306	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1175907975 CA401032050	309	Y>F		No	ClinGen gnomAD
CA294069416 rs866477330	310	G>E		No	ClinGen gnomAD
CA8764955 rs373166096	310	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1432491921 CA401032058	311	D>H		No	ClinGen TOPMed gnomAD
CA401032059 rs1432491921	311	D>Y		No	ClinGen TOPMed gnomAD
rs750945305 CA8764957	312	R>C		No	ClinGen ExAC TOPMed gnomAD
CA401032066 rs750945305	312	R>G		No	ClinGen ExAC TOPMed gnomAD
CA294069421 rs375074256	312	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA TOPMed gnomAD
rs766885608 CA8764959	313	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs1288173361 CA401032104	318	I>V		No	ClinGen gnomAD
CA8764960 rs751211598	319	H>N		No	ClinGen ExAC gnomAD
CA8764962 COSM707236 rs34553577 COSM1147867	320	D>N	lung [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA8764963 rs752248810	322	Q>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	323	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs138752407 CA8764964	324	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA401032166 rs1439652944	327	D>A		No	ClinGen gnomAD
CA8764966 rs749188667	327	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs899901107 CA294069563	328	F>C		No	ClinGen gnomAD
CA401032171 rs1177264383	328	F>I		No	ClinGen gnomAD
rs899901107 CA401032175	328	F>S		No	ClinGen gnomAD
CA401032183 rs1159191589	329	T>I		No	ClinGen gnomAD
rs1598613943 CA401032178	329	T>P		No	ClinGen Ensembl
rs1238087965 CA401032189	330	S>F		No	ClinGen gnomAD
rs778701779 CA8764968	331	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs745709991 CA8764969	331	R>H		No	ClinGen ExAC TOPMed gnomAD
COSM1743707 COSM1743708 rs745709991 COSM1743706 CA401032193	331	R>L	biliary_tract [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA294069601 rs372869874	332	V>I		No	ClinGen ESP TOPMed
rs969713987 CA294069637	334	G>A		No	ClinGen TOPMed gnomAD
rs147490444 CA8764971	334	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA401032216 rs1277630571	335	F>C		No	ClinGen gnomAD
rs769772644 CA8764974	337	V>I		No	ClinGen ExAC TOPMed gnomAD
rs769772644 CA8764973	337	V>L		No	ClinGen ExAC TOPMed gnomAD
rs1164992162 CA401032245	340	E>G		No	ClinGen TOPMed
TCGA novel	341	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8764976 rs767047115	342	D>A		No	ClinGen ExAC TOPMed gnomAD
CA8764977 rs767047115	342	D>G		No	ClinGen ExAC TOPMed gnomAD
rs1215743261 CA401032265	343	P>R		No	ClinGen gnomAD
CA8764978 rs760047758	344	A>P		No	ClinGen ExAC gnomAD
CA294069712 rs760047758	344	A>T		No	ClinGen ExAC gnomAD
rs1196379277 CA401032358	346	T>S		No	ClinGen gnomAD
CA401032374 rs576504796	348	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8765009 rs756261649	349	D>E		No	ClinGen ExAC gnomAD
rs959407705 CA401032376	349	D>H		No	ClinGen TOPMed gnomAD
CA294072986 rs959407705	349	D>N		No	ClinGen TOPMed gnomAD
CA8765010 rs374313431	350	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA401032384 rs1257566123	350	P>S		No	ClinGen gnomAD
CA401032391 rs1399326011	351	Y>*		No	ClinGen Ensembl
CA294073009 rs990651840	351	Y>C		No	ClinGen TOPMed gnomAD
CA8765011 rs201318934	351	Y>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA401032388 rs201318934	351	Y>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1478114682 CA401032395	352	A>T		No	ClinGen gnomAD
rs771149902 CA8765012	355	V>A		No	ClinGen ExAC gnomAD
rs1174387081 CA401032420	357	A>T		No	ClinGen gnomAD
CA401032424 rs1359939821	357	A>V		No	ClinGen gnomAD
CA401032440 rs1568068418	359	E>D		No	ClinGen Ensembl
CA8765014 rs746409769	360	E>G		No	ClinGen ExAC gnomAD
rs775693592 CA8765016	364	I>L		No	ClinGen ExAC gnomAD
rs367897479 CA8765018	364	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs761140435 CA8765017	364	I>T		No	ClinGen ExAC TOPMed gnomAD
rs1568068479 CA401032479	366	L>V		No	ClinGen Ensembl
TCGA novel	367	Q>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8765020 rs761250734	369	A>T		No	ClinGen ExAC TOPMed gnomAD
rs750317285 CA294073052	370	G>A		No	ClinGen ExAC TOPMed gnomAD
rs750317285 CA294073048	370	G>D		No	ClinGen ExAC TOPMed gnomAD
rs370584981 CA8765021	370	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA8765022 rs750317285	370	G>V		No	ClinGen ExAC TOPMed gnomAD
CA8765023 rs374016404 COSM328421	373	P>L	pancreas [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA294073064 rs200799378	373	P>T		No	ClinGen 1000Genomes
COSM984385 COSM1589163 CA294073079 rs377453029	378	Y>C	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1194134934 CA401032549	378	Y>H		No	ClinGen gnomAD
CA8765027 rs377453029	378	Y>S		No	ClinGen ExAC gnomAD
rs1451798742 CA401032559	380	A>T		No	ClinGen gnomAD
rs1467163232 CA401032570	381	S>F		No	ClinGen gnomAD
CA401032574 rs1598624656	382	L>P		No	ClinGen Ensembl
CA401032576 rs1404951057	383	H>Y		No	ClinGen gnomAD
CA401032588 rs1397078423	384	C>F		No	ClinGen gnomAD
rs757373684 CA8765029	384	C>R		No	ClinGen ExAC gnomAD
rs1397078423 CA401032586	384	C>Y		No	ClinGen gnomAD
CA401032594 rs1442299723	385	S>Y		No	ClinGen gnomAD
rs865879100 CA294073098	386	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1236328279 CA401032603	387	I>V		No	ClinGen gnomAD
CA401032620 rs1351000294	389	C>F		No	ClinGen gnomAD
rs368206184 CA8765032	390	S>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA8765033 rs780676875	391	H>Y		No	ClinGen ExAC gnomAD
CA8765035 rs769075767	393	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs936393509 CA294073115	395	N>D		No	ClinGen Ensembl
CA8765036 rs776196086	396	I>F		No	ClinGen ExAC gnomAD
CA294073122 rs893540567	397	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA401032671 rs893540567	397	P>R		No	ClinGen TOPMed gnomAD
rs756949213 CA8765038	400	L>P		No	ClinGen ExAC gnomAD
CA401032686 rs1364414958	400	L>V		No	ClinGen gnomAD
rs1598624875 CA401032693	401	W>*		No	ClinGen Ensembl
rs762593534 CA8765040	401	W>L		No	ClinGen ExAC gnomAD
CA8765039 rs772680810	401	W>R		No	ClinGen ExAC gnomAD
rs766217199 CA8765041	402	E>G		No	ClinGen ExAC TOPMed gnomAD
CA8765043 rs189460474	403	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8765042 rs75173279	403	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1598624935 CA401032711	404	I>S		No	ClinGen Ensembl
CA401032717 rs1232318404	405	I>T		No	ClinGen gnomAD
CA8765047 rs201240037 COSM1213454 COSM1213453	407	A>T	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs543885553 CA8765049	408	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA294073187 rs1026508789	409	S>C		No	ClinGen gnomAD
CA401032744 rs750241847	410	R>P		No	ClinGen ExAC TOPMed gnomAD
rs750241847 CA8765051	410	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs780363548 CA8765050	410	R>W		No	ClinGen ExAC gnomAD
rs1251350685 CA401032752	411	Q>H		No	ClinGen TOPMed gnomAD
CA401032755 rs1485346217	412	N>D		No	ClinGen gnomAD
rs200648094 CA8765053	413	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA401032770 rs1016243159	414	H>P		No	ClinGen TOPMed
rs748554837 CA8765054	414	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs1016243159 CA294073205	414	H>R		No	ClinGen TOPMed
rs1170238078 CA401032780	415	F>L		No	ClinGen gnomAD
rs769435036 CA8765055	416	S>C		No	ClinGen ExAC gnomAD
rs772979528 CA8765056	417	T>A		No	ClinGen ExAC TOPMed gnomAD
CA401032786 rs772979528	417	T>P		No	ClinGen ExAC TOPMed gnomAD
CA401032789 rs1168941745	417	T>S		No	ClinGen gnomAD
rs762316279 CA8765057	418	M>T		No	ClinGen ExAC TOPMed gnomAD
CA294073343 rs201602163	420	W>*		No	ClinGen gnomAD
rs1231942202 CA401032831	421	P>L		No	ClinGen gnomAD
CA401032837 rs1447420192	422	I>M		No	ClinGen TOPMed
rs773891537 CA8765079	422	I>T		No	ClinGen ExAC TOPMed gnomAD
CA294073352 rs977995226	424	G>S		No	ClinGen Ensembl
CA8765080 rs745413496	426	T>A		No	ClinGen ExAC TOPMed gnomAD
CA401032858 rs745413496	426	T>P		No	ClinGen ExAC TOPMed gnomAD
CA294073404 rs1053909327	430	P>A		No	ClinGen gnomAD
rs1053909327 CA401032881	430	P>S		No	ClinGen gnomAD
CA8765082 rs775624603	434	Q>*		No	ClinGen ExAC TOPMed gnomAD
CA8765083 rs760487213	434	Q>H		No	ClinGen ExAC gnomAD
rs1252713664 CA401032912	435	R>K		No	ClinGen gnomAD
rs199913582 CA8765084	436	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1453136121 CA401032919	436	D>Y		No	ClinGen gnomAD
rs942352601 CA294073460	437	L>V		No	ClinGen Ensembl
rs977946025 CA294073686	443	E>K		No	ClinGen gnomAD
rs778569645 CA8765114	445	G>S		No	ClinGen ExAC TOPMed gnomAD
rs375281147 CA8765115	446	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1166864414 CA401032995	447	V>M		No	ClinGen gnomAD
TCGA novel	448	R>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1409313510 CA401033004	448	R>Q		No	ClinGen TOPMed gnomAD
COSM473365 COSM1135995 CA8765117 rs201300652	448	R>W	kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA401033028 rs1568069846	451	D>E		No	ClinGen Ensembl
rs1356202348 CA401033041	453	S>L		No	ClinGen gnomAD
rs1312328629 CA401033046	454	G>A		No	ClinGen TOPMed gnomAD
rs1312328629 CA401033045	454	G>D		No	ClinGen TOPMed gnomAD
rs1353843669 CA401033066	457	L>P		No	ClinGen gnomAD
rs747922152 CA8765121	458	R>Q		No	ClinGen ExAC gnomAD
CA8765120 rs114513045	458	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1213330541 CA401033074	459	L>R		No	ClinGen TOPMed gnomAD
CA8765123 rs774520764	460	L>F		No	ClinGen ExAC gnomAD
rs1343486442 CA401033092	462	K>R		No	ClinGen gnomAD
CA8765124 rs372916600	463	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA8765125 COSM1213452 COSM1213451 rs373727654	464	S>N	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
TCGA novel	464	S>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs775518531 CA8765126	466	V>M		No	ClinGen ExAC gnomAD
rs760735734 CA294073764	467	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs760735734 CA8765127	467	R>G		No	ClinGen ExAC TOPMed gnomAD
rs764647144 CA8765128	467	R>H		No	ClinGen ExAC TOPMed gnomAD
rs762170189 CA8765130	468	V>M		No	ClinGen ExAC TOPMed gnomAD
rs765727465 CA8765131	471	T>I		No	ClinGen ExAC TOPMed gnomAD
CA8765132 rs750043640	472	D>N		No	ClinGen ExAC TOPMed gnomAD
rs200719954 CA401033156	473	T>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs200719954 CA8765133	473	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1335022278 CA401033158	474	D>N		No	ClinGen gnomAD
CA294073809 rs745474839	475	P>L		No	ClinGen Ensembl
rs149872906 CA8765135	476	N>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA8765136 rs751107332	476	N>S		No	ClinGen ExAC TOPMed gnomAD
rs140870664 CA8765138	477	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA8765139 rs748070944	478	N>K		No	ClinGen ExAC gnomAD
CA8765140 VAR_050072 rs1671021 VAR_050070	479	F>L		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA294073850 rs1012257376	480	S>I		No	ClinGen Ensembl
CA401033207 rs1201667671	481	A>S		No	ClinGen gnomAD
rs1355446665 CA401033210	481	A>V		No	ClinGen gnomAD
CA8765142 rs749122180	482	Q>*		No	ClinGen ExAC gnomAD
CA294073883 rs146711859	482	Q>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs146711859 CA8765143	482	Q>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA401033218 rs1236732731	483	G>D		No	ClinGen gnomAD
rs796643257 CA294073887	483	G>S		No	ClinGen Ensembl
rs747050547 CA8765145	484	E>K		No	ClinGen ExAC TOPMed gnomAD
CA401033228 rs1455690412	485	D>N		No	ClinGen gnomAD
CA8765147 rs577695423	486	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1372775216 CA401033246	487	W>*		No	ClinGen TOPMed
rs999521711 CA294073915	487	W>*		No	ClinGen Ensembl
CA294073930 rs1029359081	488	P>H		No	ClinGen TOPMed
VAR_050071 rs35991442 CA8765150	488	P>L		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA294073923 rs975466264	488	P>S		No	ClinGen TOPMed
CA8765151 rs773677899	489	P>S		No	ClinGen ExAC gnomAD
VAR_050072 rs1671021	490	L>P		No	UniProt dbSNP
rs763475439 CA8765152	491	R>C		No	ClinGen ExAC TOPMed gnomAD
CA401033268 rs766073577	491	R>H		No	ClinGen ExAC gnomAD
rs766073577 CA8765153	491	R>L		No	ClinGen ExAC gnomAD
CA8765175 rs752148018	493	V>L		No	ClinGen ExAC gnomAD
CA401033289 rs752148018	493	V>M		No	ClinGen ExAC gnomAD
CA401033299 rs1163264260	494	G>D		No	ClinGen TOPMed gnomAD
CA8765177 rs763964803	497	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs753776359 CA8765178	498	P>L		No	ClinGen ExAC TOPMed gnomAD
CA401033333 rs1394965003	499	Y>*		No	ClinGen gnomAD
rs1389238975 CA401033335	500	S>G		No	ClinGen gnomAD
rs1309295134 CA401033337	500	S>N		No	ClinGen gnomAD
rs763564571 CA8765180	501	D>A		No	ClinGen ExAC TOPMed gnomAD
CA8765179 rs148054484	501	D>Y		No	ClinGen ESP ExAC gnomAD
rs755124108 CA8765182	503	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA8765184 rs373591655	504	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA8765183 rs781542922	504	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1207429602 CA401033368	505	L>P		No	ClinGen gnomAD
rs770000521 CA8765185	506	G>D		No	ClinGen ExAC TOPMed gnomAD
rs1210068661 CA401033381	508	Q>*		No	ClinGen TOPMed
rs1485480169 CA401033385	508	Q>R		No	ClinGen gnomAD
rs1186006917 CA401033405	511	F>L		No	ClinGen TOPMed gnomAD
CA8765186 rs200994414	514	K>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs749835566 CA8765187	516	S>N		No	ClinGen ExAC gnomAD
CA401033451 rs1169973582	517	G>A		No	ClinGen gnomAD
CA8765189 rs774552496	517	G>S		No	ClinGen ExAC TOPMed gnomAD
rs906537768 CA294074124	518	Y>H		No	ClinGen TOPMed gnomAD
CA294074135 rs942272827	519	L>V		No	ClinGen Ensembl
rs895281085 CA294074146	524	T>M		No	ClinGen gnomAD
CA401033494 rs1396437396	525	A>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1162973516 CA401033511	527	Q>H		No	ClinGen TOPMed
rs776084658 CA8765214	528	V>M		No	ClinGen ExAC gnomAD
rs933867243 CA294077161	530	V>A		No	ClinGen gnomAD
rs761379338 CA8765215	532	E>K		No	ClinGen ExAC TOPMed gnomAD
CA8765216 rs765070983	533	L>M		No	ClinGen ExAC gnomAD
CA294077170 rs1004117153	533	L>P		No	ClinGen TOPMed
CA8765217 rs750385877	534	N>S		No	ClinGen ExAC TOPMed gnomAD
CA401033569 rs1188980168	536	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA401033578 rs147027220	537	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs147027220 CA8765219	537	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA401033589 rs541727805	539	E>*		No	ClinGen gnomAD
CA294077181 rs541727805	539	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1159601505 CA401033599	540	Q>R		No	ClinGen gnomAD
CA401033603 rs1004491456	541	A>S		No	ClinGen gnomAD
CA294077183 rs1004491456	541	A>T		No	ClinGen gnomAD
rs115026154 CA8765221 RCV000957652	544	Q>H		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA8765222 rs202033148	547	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA401033650 rs1598629834	548	D>A		No	ClinGen Ensembl
CA401033648 rs143887617	548	D>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs143887617 CA8765224	548	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs1229436757 CA401033671	551	Q>H		No	ClinGen gnomAD
CA8765229 rs553795052	552	D>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1333361934 CA401033684	553	Q>R		No	ClinGen gnomAD
CA401033688 rs1247952766	554	E>K		No	ClinGen gnomAD
CA8765230 rs780370741	556	Y>N		No	ClinGen ExAC gnomAD
CA8765231 rs747409735	557	R>C		No	ClinGen ExAC TOPMed gnomAD
rs138912319 CA8765232	557	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs138912319 CA8765233	557	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs1159673637 CA401033718	558	W>*		No	ClinGen gnomAD
CA401033714 rs1473351710	558	W>R		No	ClinGen gnomAD
CA401033735 rs1598630002	561	H>N		No	ClinGen Ensembl
rs769349711 CA8765235	562	E>*		No	ClinGen ExAC TOPMed gnomAD
CA401033747 rs1350398399	562	E>D		No	ClinGen TOPMed gnomAD
rs769349711 CA8765236	562	E>K		No	ClinGen ExAC TOPMed gnomAD
CA8765237 rs762927212	563	R>C		No	ClinGen ExAC TOPMed gnomAD
COSM403717 rs766268182 CA8765238	563	R>H	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA401033756 rs1598630089	564	L>P		No	ClinGen Ensembl
CA401033764 rs1352590452	566	A>T		No	ClinGen gnomAD
CA8765239 rs573816544	567	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA294077260 COSM1522314 COSM1522313 rs988742283	567	R>H	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs988742283 CA401033772	567	R>P		No	ClinGen TOPMed gnomAD
CA294077263 rs915309363	568	S>L		No	ClinGen gnomAD
CA8765240 rs759466660	569	G>R		No	ClinGen ExAC gnomAD
CA8765241 rs542765521	570	P>R		No	ClinGen 1000Genomes ExAC gnomAD
CA8765243 rs757246505	571	V>M		No	ClinGen ExAC TOPMed gnomAD
CA8765245 rs750514591	572	R>C		No	ClinGen ExAC TOPMed gnomAD
CA8765246 rs189703614	572	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs750514591 CA401033794	572	R>S		No	ClinGen ExAC TOPMed gnomAD
rs960914725 CA294077275	573	F>S		No	ClinGen TOPMed gnomAD
CA401033825 rs1246137614	577	F>I		No	ClinGen TOPMed
TCGA novel	577	F>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1471718869 CA401033843	579	P>A		No	ClinGen gnomAD
CA294077280 rs933981550	580	F>L		No	ClinGen gnomAD
CA8765248 rs371276273	581	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs374182771 CA294077295	583	V>A		No	ClinGen ESP gnomAD
rs755348646 CA401033867	583	V>L		No	ClinGen ExAC TOPMed gnomAD
rs755348646 CA8765249	583	V>M		No	ClinGen ExAC TOPMed gnomAD
CA294077298 rs913879956	585	C>R		No	ClinGen TOPMed
CA401033887 rs1357641058	586	Q>*		No	ClinGen gnomAD
CA401033904 rs1450684805	588	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
TCGA novel	589	A>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs11868111 CA8765252	589	A>T		No	ClinGen ExAC TOPMed gnomAD
CA401033907 rs1226783141	589	A>V		No	ClinGen gnomAD
CA8765254 rs772747700 CA8765253	590	V>L		No	ClinGen ExAC TOPMed gnomAD
CA401033922 rs1598630410	592	T>P		No	ClinGen Ensembl
rs759341750 CA8765257	595	A>S		No	ClinGen ExAC gnomAD
rs759341750 CA401033939	595	A>T		No	ClinGen ExAC gnomAD
TCGA novel	599	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA294077336 rs374346369	600	W>*		No	ClinGen TOPMed gnomAD
rs1391934490 CA401033974	600	W>*		No	ClinGen gnomAD
rs374346369 CA401033978	600	W>C		No	ClinGen TOPMed gnomAD
rs1472461379 CA401033971	600	W>R		No	ClinGen TOPMed
COSM1147868 rs765413326 COSM707235 CA8765261	601	R>Q	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA8765260 rs762070531	601	R>W		No	ClinGen ExAC TOPMed gnomAD
CA8765263 rs368385489	603	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1273684386 CA401034016	607	T>I		No	ClinGen gnomAD
rs200040120 CA8765266	607	T>P		No	ClinGen ExAC gnomAD
rs781516709 CA8765267	609	H>R		No	ClinGen ExAC gnomAD
CA401034037 rs1464320867	610	G>D		No	ClinGen TOPMed gnomAD
COSM3958748 CA401034049 rs1281601040 COSM3958749	612	G>R	lung [Cosmic]	No	ClinGen cosmic curated TOPMed
COSM1685075 CA8765269 COSM1685076 rs753045362	613	L>F	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1249864763 CA401034073	615	D>E		No	ClinGen gnomAD
rs1598630669 CA401034078	616	H>R		No	ClinGen Ensembl
rs1465273949 CA401034075	616	H>Y		No	ClinGen gnomAD
rs1440499063 CA401034093	618	Q>*		No	ClinGen TOPMed
rs755787767 CA401034099	619	R>G		No	ClinGen ExAC TOPMed gnomAD
rs143998947 CA8765271	619	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs143998947 CA8765272	619	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA8765270 COSM1386006 COSM1386007 rs755787767	619	R>W	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA294077458 rs1035219955	620	R>Q		No	ClinGen TOPMed gnomAD
rs770573752 CA8765274	620	R>W		No	ClinGen ExAC gnomAD
rs957199866 CA294077465	622	V>A		No	ClinGen gnomAD
CA401034116 rs957199866	622	V>G		No	ClinGen gnomAD
CA401034148 rs1263678034	625	K>N		No	ClinGen gnomAD
rs1210558022 CA401034167	628	L>P		No	ClinGen gnomAD
rs145928772 CA8765299	629	H>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs774412733 CA8765300	630	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1053173777 CA294077588	631	S>I		No	ClinGen Ensembl
rs1369325631 CA401034234	638	G>A		No	ClinGen gnomAD
CA8765301 rs759670596	638	G>S		No	ClinGen ExAC gnomAD
CA8765302 RCV000957654 rs150412778	639	P>S		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1244281632 CA401034242	640	L>F		No	ClinGen TOPMed
rs1310280137 CA401034251	641	S>F		No	ClinGen gnomAD
rs1395277953 CA401034248	641	S>P		No	ClinGen gnomAD
rs761064960 CA8765304	642	R>C		No	ClinGen ExAC gnomAD
CA8765305 rs764390322	642	R>H		No	ClinGen ExAC TOPMed gnomAD
rs151167112 CA8765307	643	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1300884530 CA401034283	647	K>*		No	ClinGen TOPMed
CA8765308 rs765047154	649	S>A		No	ClinGen ExAC gnomAD
CA401034300 rs369765488	649	S>C		No	ClinGen ESP ExAC gnomAD
CA8765309 rs369765488	649	S>F		No	ClinGen ESP ExAC gnomAD
TCGA novel	650	L>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA294077641 rs536211924	651	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA8765312 rs536211924	651	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8765313 rs140325578	651	R>H		No	ClinGen ESP ExAC gnomAD
CA8765314 rs754751986	654	F>S		No	ClinGen ExAC gnomAD
rs1447203479 CA401034334	655	R>H		No	ClinGen TOPMed gnomAD
rs149923284 CA8765315	655	R>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA401034338 rs1465185868	656	R>Q		No	ClinGen TOPMed gnomAD
rs372977276 CA8765316	656	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1357008884 CA401034343	657	M>L		No	ClinGen TOPMed
COSM4139823 COSM4139822 rs771130362 CA8765317	658	R>C	ovary [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs774569798 CA8765318	658	R>H		No	ClinGen ExAC gnomAD
rs199973131 CA8765319	659	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1396381273 CA401034355	659	R>W		No	ClinGen TOPMed gnomAD
TCGA novel	660	S>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs772079289 CA8765320	661	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA294077718 rs972565705	661	R>W		No	ClinGen TOPMed gnomAD
CA8765321 rs776018169	662	V>M		No	ClinGen ExAC gnomAD
rs777128389 CA8765324	664	S>I		No	ClinGen ExAC
rs764920758 CA8765326	665	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs762321284 CA8765325	665	R>W		No	ClinGen ExAC gnomAD
rs1246767779 CA401034397	666	K>N		No	ClinGen gnomAD
CA8765329 rs201137001	667	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs757884299 CA8765328	667	R>W		No	ClinGen ExAC gnomAD
CA8765331 rs754867865	669	P>L		No	ClinGen ExAC TOPMed gnomAD
CA8765334 rs755908532	670	A>V		No	ClinGen ExAC gnomAD
rs779071525 CA8765335	671	G>V		No	ClinGen ExAC
rs746116098 CA8765336	672	P>A		No	ClinGen ExAC TOPMed gnomAD
CA401034427 rs1158120568	672	P>L		No	ClinGen TOPMed gnomAD
rs746116098 CA294077799	672	P>S		No	ClinGen ExAC TOPMed gnomAD
rs772390170 CA8765337	673	P>A		No	ClinGen ExAC gnomAD
rs775405088 CA8765338	673	P>Q		No	ClinGen ExAC
CA8765366 rs774060132	676	A>T		No	ClinGen ExAC
CA401034480 rs1230463200	679	G>E		No	ClinGen TOPMed gnomAD
CA8765368 rs111422106	679	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8765371 rs149100966	681	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1250836743 CA401034495	681	A>V		No	ClinGen TOPMed
rs572323451 CA401034504	683	A>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs572323451 CA8765372	683	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs751836174 CA8765375	685	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA8765374 rs375717103	685	R>W		No	ClinGen ExAC TOPMed gnomAD
CA401034521 rs1008443817	686	P>A		No	ClinGen TOPMed gnomAD
CA294078265 rs1008443817	686	P>S		No	ClinGen TOPMed gnomAD
CA401034525 rs1244545825	687	G>S		No	ClinGen TOPMed
rs1384946526 CA401034560	691	M>I		No	ClinGen gnomAD
rs1301420097 CA401034557	691	M>T		No	ClinGen Ensembl
rs970036544 CA294078278	693	L>P		No	ClinGen TOPMed gnomAD
CA8765377 rs781397188	694	A>V		No	ClinGen ExAC TOPMed gnomAD
rs748277859 CA8765378	696	V>M		No	ClinGen ExAC gnomAD
rs1568074970 CA401034590	697	Q>*		No	ClinGen Ensembl
CA401034596 rs1415907624	697	Q>H		No	ClinGen TOPMed
CA401034593 rs1448988263	697	Q>P		No	ClinGen TOPMed gnomAD
CA401034594 rs1448988263	697	Q>R		No	ClinGen TOPMed gnomAD
CA8765379 rs74876688	698	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8765380 rs778437766	698	R>H		No	ClinGen ExAC gnomAD
rs374571584 CA8765381	699	K>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA401034606 rs1412176061	699	K>R		No	ClinGen TOPMed
CA401034615 rs377414113	700	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA8765384 rs753658973	703	R>C		No	ClinGen ExAC TOPMed gnomAD
rs753658973 CA294078346	703	R>G		No	ClinGen ExAC TOPMed gnomAD
CA8765385 rs771755888	703	R>H		No	ClinGen ExAC TOPMed gnomAD
rs771755888 CA294078360	703	R>P		No	ClinGen ExAC TOPMed gnomAD
rs753658973 CA8765383	703	R>S		No	ClinGen ExAC TOPMed gnomAD
rs754925688 CA294078361	704	S>L		No	ClinGen TOPMed gnomAD
CA401034635 rs754925688 COSM1324854 COSM1324853	704	S>W	ovary Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
TCGA novel	706	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs760232673 CA8765387	710	T>I		No	ClinGen ExAC gnomAD
CA294078366 rs763958592	712	F>L		No	ClinGen ExAC TOPMed gnomAD
rs776633119 CA401034691	713	V>F		No	ClinGen ExAC TOPMed gnomAD
rs776633119 CA8765389	713	V>I		No	ClinGen ExAC TOPMed gnomAD
rs776633119 CA401034690	713	V>L		No	ClinGen ExAC TOPMed gnomAD
CA8765392 rs370964495	714	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA8765391 rs370964495	714	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs761472288 CA8765390	714	R>W		No	ClinGen ExAC TOPMed gnomAD
CA294078429 rs947133802	716	L>P		No	ClinGen TOPMed
rs138338777 CA8765393	719	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8765415 rs34255252	727	S>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1399719627 CA401034792	727	S>P		No	ClinGen gnomAD
CA8765417 rs376900486	728	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA8765416 rs201503399	728	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1351282271 CA401034818	731	P>L		No	ClinGen TOPMed gnomAD
CA401034819 rs1351282271	731	P>R		No	ClinGen TOPMed gnomAD
CA8765418 rs141534334	732	S>L		No	ClinGen ESP ExAC gnomAD
CA401034841 rs758762821	735	A>S		No	ClinGen ExAC TOPMed gnomAD
CA8765420 rs758762821	735	A>T		No	ClinGen ExAC TOPMed gnomAD
CA401034844 rs1251339056	735	A>V		No	ClinGen gnomAD
CA294078802 rs746510002	737	T>I		No	ClinGen TOPMed
rs199685129 CA8765422	738	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs199685129 CA8765423	738	N>T		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	740	G>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA401034874 rs1598636330	741	T>P		No	ClinGen Ensembl
rs1396808510 CA401034884	742	I>T		No	ClinGen TOPMed
CA8765424 rs780719806	742	I>V		No	ClinGen ExAC gnomAD
rs148020757 CA401034894	744	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs148020757 CA8765426 RCV000948455	744	A>T		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs143013538 CA8765427	746	S>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA8765428 rs146152295	748	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs35474687 VAR_034058 CA8765429 RCV000911697	748	R>H		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA401034917 rs146152295	748	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA401034932 rs1369520705	750	P>L		No	ClinGen gnomAD
rs141515395 CA8765430	751	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA8765433 rs764292060	752	A>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs764292060 CA8765432	752	A>T		No	ClinGen ExAC TOPMed gnomAD
CA8765435 COSM137122 rs144506761	753	E>K	skin [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs373717414 CA8765436	753	E>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA8765438 rs148419840	754	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1019147525 CA294078892	754	R>W		No	ClinGen gnomAD
CA8765440 rs754652204	756	M>T		No	ClinGen ExAC gnomAD
rs201213445 CA401034981	758	E>D		No	ClinGen 1000Genomes gnomAD
CA401034982 rs1661715	759	P>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8765443 rs150971482	759	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA8765442 rs150971482	759	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA8765441 VAR_050073 rs1661715	759	P>S		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA8765445 rs749218398	761	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs140499680 CA8765444	761	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs771033746 CA401034998	762	A>E		No	ClinGen ExAC gnomAD
CA8765446 rs771033746	762	A>V		No	ClinGen ExAC gnomAD
rs774287105 CA8765447	763	E>G		No	ClinGen ExAC TOPMed gnomAD
rs759895942 CA8765477	771	M>T		No	ClinGen ExAC
CA8765480 rs755719033	773	R>Q		No	ClinGen ExAC gnomAD
rs753146313 CA8765479	773	R>W		No	ClinGen ExAC TOPMed gnomAD
CA8765481 rs370375483	774	A>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA8765482 rs753344667	774	A>V		No	ClinGen ExAC TOPMed gnomAD
CA8765484 rs778958644	775	P>L		No	ClinGen ExAC gnomAD
TCGA novel	778	G>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1343334047 CA401035113	778	G>D		No	ClinGen gnomAD
TCGA novel	779	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA401035129 rs1390327076	781	V>L		No	ClinGen gnomAD
rs1390327076 CA401035127	781	V>M		No	ClinGen gnomAD
rs769989122 CA8765489	783	D>N		No	ClinGen ExAC TOPMed gnomAD
CA8765491 rs749299653	784	G>R		No	ClinGen ExAC TOPMed gnomAD
CA401035160 rs1319225954	786	S>G		No	ClinGen gnomAD
rs573399365 CA8765492	786	S>N		No	ClinGen 1000Genomes ExAC gnomAD
CA8765494 rs759931517	787	V>I		No	ClinGen ExAC TOPMed gnomAD
CA8765495 rs768139605	788	P>S		No	ClinGen ExAC TOPMed gnomAD
CA294079170 rs984298377	789	L>F		No	ClinGen Ensembl
CA294079173 rs1034603645	790	P>L		No	ClinGen gnomAD
rs1661714 VAR_050075	790	P>L		No	UniProt dbSNP
CA8765497 rs761137686	791	E>K		No	ClinGen ExAC gnomAD
CA294079187 rs761137686	791	E>Q		No	ClinGen ExAC gnomAD
rs763777264 CA8765498	792	P>S		No	ClinGen ExAC gnomAD
CA294079195 rs917323766	793	L>F		No	ClinGen TOPMed gnomAD
CA401035202 rs1422808547	794	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA8765499 rs753580126	795	V>M		No	ClinGen ExAC TOPMed gnomAD
CA401035218 rs749986955	796	A>D		No	ClinGen ExAC TOPMed gnomAD
CA8765501 rs764814251	796	A>T		No	ClinGen ExAC TOPMed gnomAD
rs749986955 CA8765502	796	A>V		No	ClinGen ExAC TOPMed gnomAD
CA8765503 rs758261588	797	H>R		No	ClinGen ExAC gnomAD
rs146320210 CA8765504	800	S>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs543559225 CA8765506	801	K>N		No	ClinGen 1000Genomes ExAC gnomAD
rs1490397890 CA401035251	802	S>R		No	ClinGen gnomAD
CA8765507 rs777932452	802	S>R		No	ClinGen ExAC TOPMed gnomAD
CA8765508 rs749491159	803	P>A		No	ClinGen ExAC gnomAD
TCGA novel	804	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs771183463 CA8765509	805	M>V		No	ClinGen ExAC TOPMed gnomAD
CA401035285 rs1193319743	806	Q>H		No	ClinGen TOPMed
rs936023308 CA294079301	810	Q>*		No	ClinGen Ensembl
rs1050324287 CA294079305	813	V>I		No	ClinGen gnomAD
CA8765510 rs34545262	814	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8765511 rs746020983	817	E>K		No	ClinGen ExAC
rs1279365274 CA401035360	818	Q>*		No	ClinGen TOPMed
rs772403669 CA8765512	820	K>E		No	ClinGen ExAC gnomAD
rs776072926 CA8765513	820	K>R		No	ClinGen ExAC TOPMed gnomAD
CA401035392 rs1258787501	821	V>M		No	ClinGen gnomAD
CA8765541 rs751109863	823	T>M		No	ClinGen ExAC gnomAD
CA401035441 rs1177868401	828	S>I		No	ClinGen gnomAD
CA401035439 rs1177868401	828	S>N		No	ClinGen gnomAD
rs371517081 CA294080246	836	T>M		No	ClinGen TOPMed gnomAD
rs1282229640 CA401035501	837	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1486724075 CA401035518	840	G>D		No	ClinGen gnomAD
CA8765552 rs781767443	842	R>T		No	ClinGen ExAC TOPMed gnomAD
CA401035534 rs1372147032	843	V>L		No	ClinGen TOPMed
CA8765553 rs748459461	844	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs533568617 CA401035544	845	R>L		No	ClinGen 1000Genomes ExAC gnomAD
rs533568617 CA8765555	845	R>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA8765554 rs770227594	845	R>W		No	ClinGen ExAC gnomAD
rs748938750 CA8765556	846	V>G		No	ClinGen ExAC gnomAD
CA401035546 rs1568079542	846	V>I		No	ClinGen Ensembl
CA8765557 rs770556188	847	S>I		No	ClinGen ExAC TOPMed gnomAD
CA401035556 rs1011527925	847	S>R		No	ClinGen TOPMed gnomAD
rs773836919 CA401035558 CA401035559	848	V>L		No	ClinGen ExAC TOPMed gnomAD
rs773836919 CA8765558	848	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1469017207 CA401035574	850	H>L		No	ClinGen gnomAD
rs1469017207 CA401035572	850	H>P		No	ClinGen gnomAD
CA401035573 rs1469017207	850	H>R		No	ClinGen gnomAD
CA401035583 rs759059197	851	F>L		No	ClinGen ExAC TOPMed gnomAD
rs369689230 CA401035586	852	G>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA8765561 rs775434892	852	G>D		No	ClinGen ExAC gnomAD
rs369689230 CA8765560	852	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA401035591 rs1568079676	853	S>C		No	ClinGen Ensembl
rs547214013 CA8765562	854	R>C		No	ClinGen 1000Genomes ExAC gnomAD
CA8765563 rs373938117	854	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA401035597 rs547214013	854	R>S		No	ClinGen 1000Genomes ExAC gnomAD
rs1406572677 CA401035602	855	R>*		No	ClinGen gnomAD
rs753620321 CA8765564	855	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA8765566 rs560808617	857	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1281196687 CA401035615	857	E>V		No	ClinGen gnomAD
rs751634917 CA8765567	858	D>Y		No	ClinGen ExAC gnomAD
TCGA novel	859	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs756629369 CA8765571	860	G>A		No	ClinGen ExAC TOPMed gnomAD
COSM386850 CA8765570 rs142947637 CA8765569	860	G>R	lung [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs756629369 CA294080370	860	G>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs770558755 CA8765574	861	E>G		No	ClinGen ExAC gnomAD
rs749672238 CA8765573	861	E>K		No	ClinGen ExAC gnomAD
CA401035656 rs1233935426	863	H>Q		No	ClinGen gnomAD
rs1184688097 CA401035651	863	H>Y		No	ClinGen TOPMed gnomAD
rs773994090 CA8765575	865	A>E		No	ClinGen ExAC gnomAD
rs1347501671 CA401035668	866	V>L		No	ClinGen TOPMed
rs745340362 CA8765576	867	L>V		No	ClinGen ExAC gnomAD
CA401035693 rs1383039383	870	L>V		No	ClinGen gnomAD
CA401035697 rs1318290549	871	G>S		No	ClinGen gnomAD
CA8765578 rs544148129	872	D>N		No	ClinGen ExAC TOPMed gnomAD
rs760625625 CA8765579	874	Q>H		No	ClinGen ExAC gnomAD
rs1330855497 CA401035732	876	V>F		No	ClinGen gnomAD
rs764009284 CA8765580	877	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs761529667 CA8765582	882	K>E		No	ClinGen ExAC TOPMed gnomAD
CA401035774 rs1337903459	883	P>L		No	ClinGen gnomAD
rs963325779 CA294080421	883	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA8765583 rs766643728	885	V>L		No	ClinGen ExAC TOPMed gnomAD
CA8765584 rs370466207	886	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA8765585 rs139000321 COSM1147869 COSM707234	886	R>H	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA8765586 rs767683134	889	C>R		No	ClinGen ExAC gnomAD
CA401035809 rs767683134	889	C>S		No	ClinGen ExAC gnomAD
CA401035810 rs1445302263	889	C>Y		No	ClinGen gnomAD
CA8765588 rs756630896	890	I>L		No	ClinGen ExAC gnomAD
CA8765589 COSM1213458 rs372867184 COSM1213457	891	R>C	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA8765590 rs754162202	891	R>H		No	ClinGen ExAC gnomAD
CA294080469 rs372867184	891	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs150708101 CA8765592	892	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA8765591 rs9911632	892	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8765595 rs779539721	894	D>G		No	ClinGen ExAC TOPMed gnomAD
rs537820115 CA8765593	894	D>N		No	ClinGen 1000Genomes ExAC gnomAD
rs537820115 CA8765594	894	D>Y		No	ClinGen 1000Genomes ExAC gnomAD
rs563930463 CA294080498	895	V>I		No	ClinGen TOPMed gnomAD
rs139094573 CA8765598	897	G>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs768583575 CA8765597	897	G>S		No	ClinGen ExAC gnomAD
rs149495504 CA294080516	899	A>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA8765600 rs149495504	899	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA8765601 rs773191139	900	S>A		No	ClinGen ExAC gnomAD
rs539286949 CA8765602	900	S>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8765603 rs370269067	901	C>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs116584891 CA8765605	902	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8765607 rs754321787	904	T>I		No	ClinGen ExAC gnomAD
CA8765608 rs754321787	904	T>S		No	ClinGen ExAC gnomAD
CA401035912 rs1423998293	907	G>S		No	ClinGen gnomAD
CA8765609 rs779215019	909	G>S		No	ClinGen ExAC TOPMed
rs777856235 CA8765638	911	Y>F		No	ClinGen ExAC TOPMed gnomAD
CA401035952 rs1418456239	911	Y>H		No	ClinGen TOPMed
CA8765641 rs774248063	915	P>S		No	ClinGen ExAC TOPMed gnomAD
CA8765644 rs768986085	916	S>*		No	ClinGen ExAC gnomAD
CA8765643 rs768986085	916	S>L		No	ClinGen ExAC gnomAD
CA401035988 rs765669715	917	E>A		No	ClinGen ExAC gnomAD
CA8765646 rs765669715	917	E>G		No	ClinGen ExAC gnomAD
CA8765647 rs147856534	918	F>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs763257356 CA8765648	920	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA294080845 rs1023537122	920	R>H		No	ClinGen TOPMed gnomAD
CA401036009 rs1023537122	920	R>P		No	ClinGen TOPMed gnomAD
rs766632252 CA8765649	921	F>L		No	ClinGen ExAC gnomAD
CA401036022 rs751995804	922	S>C		No	ClinGen ExAC TOPMed gnomAD
CA8765650 rs751995804	922	S>F		No	ClinGen ExAC TOPMed gnomAD
rs1471478936 CA401036024	923	L>V		No	ClinGen Ensembl
rs1296999431 CA401036033	924	S>Y		No	ClinGen gnomAD
rs1326479363 CA401036045	926	K>R		No	ClinGen TOPMed
rs752188342 CA8765654	929	V>G		No	ClinGen ExAC gnomAD
rs1448396738 CA401036064	929	V>L		No	ClinGen gnomAD
CA8765656 rs777802930	930	E>G		No	ClinGen ExAC gnomAD
CA8765657 rs749212547	931	P>L		No	ClinGen ExAC gnomAD
rs531735499 CA401036081	932	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs531735499 CA8765659	932	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8765658 rs757256244	932	R>W		No	ClinGen ExAC TOPMed gnomAD
CA8765661 rs768706544	936	D>V		No	ClinGen ExAC gnomAD
rs1242548515 CA401036134	940	T>I		No	ClinGen gnomAD
CA8765662 rs776847298	941	K>M		No	ClinGen ExAC TOPMed gnomAD
CA8765663 rs748188898	943	H>P		No	ClinGen ExAC
CA8765664 rs142772898	944	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1317239899 CA401036159	944	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA401036157 rs142772898	944	R>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs773330217 CA8765665	945	P>S		No	ClinGen ExAC gnomAD
CA401036170 rs1568081197	946	G>D		No	ClinGen Ensembl
CA8765671 rs200220698	948	G>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA294080924 rs200220698	948	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8765670 rs200220698	948	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs759948976 CA8765672	949	A>V		No	ClinGen ExAC TOPMed gnomAD
CA8765674 rs142278602	950	G>D		No	ClinGen ESP ExAC gnomAD
rs1285648189 CA401036199	951	P>L		No	ClinGen gnomAD
CA294080937 rs983673187	952	K>R		No	ClinGen TOPMed
CA8765676 rs763663044	953	K>R		No	ClinGen ExAC
rs753463266 CA8765677	954	A>P		No	ClinGen ExAC gnomAD
rs1293087842 CA401036220	955	P>A		No	ClinGen gnomAD
rs200046748 CA8765680	955	P>L		No	ClinGen ExAC TOPMed gnomAD
rs200046748 CA8765678	955	P>R		No	ClinGen ExAC TOPMed gnomAD
rs758248078 CA8765682	957	R>*		No	ClinGen ExAC TOPMed gnomAD
rs199785141 CA8765683	957	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs948066661 CA294080954	958	A>T		No	ClinGen TOPMed
rs1568081974 CA401036272	961	S>*		No	ClinGen Ensembl
rs1357583599 CA401036275	962	G>R		No	ClinGen gnomAD
CA401036281 rs1275366916	963	T>A		No	ClinGen gnomAD
rs886773716 CA294081265	964	Q>H		No	ClinGen TOPMed gnomAD
CA401036297 rs1446772593	965	S>N		No	ClinGen gnomAD
CA401036299 rs1464169847	965	S>R		No	ClinGen TOPMed
CA294081293 rs370274464	968	E>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8765713 rs377091364	968	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA294081301 rs748082392	969	E>K		No	ClinGen TOPMed
rs780706584 CA294081508	971	Q>*		No	ClinGen ExAC TOPMed gnomAD
rs780706584 CA8765731	971	Q>K		No	ClinGen ExAC TOPMed gnomAD
rs1362871032 CA401036354	972	P>S		No	ClinGen gnomAD
rs969956596 CA401036358	973	G>R		No	ClinGen TOPMed gnomAD
CA294081510 rs969956596	973	G>S		No	ClinGen TOPMed gnomAD
rs1404624901 CA401036369 CA401036368	975	V>L		No	ClinGen gnomAD
rs1003737097 CA294081513	978	R>C		No	ClinGen TOPMed gnomAD
rs1003737097 CA401036392	978	R>G		No	ClinGen TOPMed gnomAD
rs201959215 CA8765732	978	R>H		No	ClinGen ExAC TOPMed gnomAD
CA294081517 rs201959215	978	R>L		No	ClinGen ExAC TOPMed gnomAD
rs201959215 CA294081514	978	R>P		No	ClinGen ExAC TOPMed gnomAD
rs534366232 CA294081523	979	A>T		No	ClinGen TOPMed gnomAD
rs200304886 CA8765734	979	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs988228737 CA294081532	981	L>F		No	ClinGen Ensembl
CA294081545 rs1015515387	981	L>R		No	ClinGen TOPMed
CA294081571 rs537728468	982	S>C		No	ClinGen 1000Genomes TOPMed gnomAD
CA401036408 rs188024421	982	S>N		No	ClinGen 1000Genomes TOPMed gnomAD
CA401036410 rs1200740705	982	S>R		No	ClinGen gnomAD
CA294081575 rs188024421	982	S>T		No	ClinGen 1000Genomes TOPMed gnomAD
rs973668409 CA294081587	984	E>D		No	ClinGen TOPMed
rs1173280220 CA401036457	988	K>E		No	ClinGen TOPMed gnomAD
CA401036500 rs1309491068	993	T>K		No	ClinGen gnomAD
CA294081720 rs868334297	994	L>P		No	ClinGen Ensembl
rs1379406788 CA401036515	996	G>E		No	ClinGen TOPMed
rs1035168585 CA294081731	996	G>R		No	ClinGen Ensembl
CA8765746 rs750456928	998	R>C		No	ClinGen ExAC TOPMed gnomAD
CA8765747 rs750456928	998	R>G		No	ClinGen ExAC TOPMed gnomAD
rs1009650009 CA294081782	998	R>H		No	ClinGen TOPMed gnomAD
CA294081783 rs1009650009	998	R>L		No	ClinGen TOPMed gnomAD
CA294081751 rs750456928	998	R>S		No	ClinGen ExAC TOPMed gnomAD
rs755585740 CA8765750	999	G>E		No	ClinGen ExAC gnomAD
COSM3388140 rs747498972 CA8765749	999	G>R	pancreas [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA8765768 rs751759737	1001	G>D		No	ClinGen ExAC gnomAD
rs35886912 CA8765767 VAR_034059	1001	G>S		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA401036575 rs1568083659	1003	W>*		No	ClinGen Ensembl
rs914019714 CA294081894	1003	W>R		No	ClinGen TOPMed
rs1671018 CA8765769	1004	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8765770 rs567381074	1004	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs567381074 CA401036580	1004	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA401036578 rs1671018	1004	R>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs753041664 CA8765771	1005	S>L		No	ClinGen ExAC TOPMed gnomAD
CA401036597 rs1218037030	1006	H>R		No	ClinGen TOPMed
rs145089635 CA8765772	1007	R>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA401036603 rs372865631	1007	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs372865631 CA294081908	1007	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA8765773 rs372865631	1007	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1238552698 CA401036608	1008	A>P		No	ClinGen TOPMed
CA8765774 rs748906294	1008	A>V		No	ClinGen ExAC gnomAD
rs61751715 CA8765778	1009	A>S		No	ClinGen ExAC TOPMed gnomAD
rs61751715 CA8765777	1009	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1238246351 CA401036615	1009	A>V		No	ClinGen gnomAD
rs371579928 CA8765780	1010	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA8765782 rs142199654	1011	G>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1056770683 CA294081925	1011	G>R		No	ClinGen Ensembl
TCGA novel	1011	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs763267912 CA8765783	1012	C>Y		No	ClinGen ExAC gnomAD
rs766770112 CA8765784	1013	S>G		No	ClinGen ExAC gnomAD
rs202123899 CA8765785	1013	S>N		No	ClinGen ExAC TOPMed gnomAD
rs143816663 CA294081950	1014	L>F		No	ClinGen ESP TOPMed gnomAD
CA401036657 rs1342307392	1015	S>N		No	ClinGen gnomAD
rs768031262 CA8765788	1017	G>S		No	ClinGen ExAC TOPMed gnomAD
CA401036680 rs1365643920	1018	G>R		No	ClinGen gnomAD
rs112192911 CA294082174	1019	A>G		No	ClinGen Ensembl
CA401036689 rs1194967982	1019	A>T		No	ClinGen TOPMed

No associated diseases with Q6P1M3

10 regional properties for Q6P1M3

Type	Name	Position	InterPro Accession
repeat	WD40 repeat	46 - 86	IPR001680-1
repeat	WD40 repeat	88 - 127	IPR001680-2
repeat	WD40 repeat	132 - 171	IPR001680-3
repeat	WD40 repeat	185 - 225	IPR001680-4
repeat	WD40 repeat	228 - 275	IPR001680-5
repeat	WD40 repeat	386 - 465	IPR001680-6
repeat	WD40 repeat	491 - 530	IPR001680-7
domain	Lethal giant larvae homologue 2	277 - 385	IPR013577
domain	Lethal giant larvae (Lgl)-like, C-terminal domain	907 - 1027	IPR013905
domain	v-SNARE, coiled-coil homology domain	1087 - 1147	IPR042855

Functions

		Description
EC Number
Subcellular Localization	Cytoplasm	Localized in the perinuclear structure and faintly at the cell-cell contacts sites in the interphase Localized at the cell periphery during metaphase Cortical localization in mitotic cells Found in the lateral region of polarized epithelial cells
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

6 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.
cortical actin cytoskeleton	The portion of the actin cytoskeleton, comprising filamentous actin and associated proteins, that lies just beneath the plasma membrane.
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.
intracellular membrane-bounded organelle	Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

3 GO annotations of molecular function

Name	Definition
GTPase activator activity	Binds to and increases the activity of a GTPase, an enzyme that catalyzes the hydrolysis of GTP.
myosin II binding	Binding to a class II myosin, any member of the class of 'conventional' double-headed myosins that includes muscle myosin.
PDZ domain binding	Binding to a PDZ domain of a protein, a domain found in diverse signaling proteins.

9 GO annotations of biological process

Name	Definition
cell division	The process resulting in division and partitioning of components of a cell to form more cells; may or may not be accompanied by the physical separation of a cell into distinct, individually membrane-bounded daughter cells.
cortical actin cytoskeleton organization	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of actin-based cytoskeletal structures in the cell cortex, i.e. just beneath the plasma membrane.
establishment of spindle orientation	Any process that set the alignment of spindle relative to other cellular structures.
establishment or maintenance of epithelial cell apical/basal polarity	Any cellular process that results in the specification, formation or maintenance of the apicobasal polarity of an epithelial cell.
exocytosis	A process of secretion by a cell that results in the release of intracellular molecules (e.g. hormones, matrix proteins) contained within a membrane-bounded vesicle. Exocytosis can occur either by full fusion, when the vesicle collapses into the plasma membrane, or by a kiss-and-run mechanism that involves the formation of a transient contact, a pore, between a granule (for exemple of chromaffin cells) and the plasma membrane. The latter process most of the time leads to only partial secretion of the granule content. Exocytosis begins with steps that prepare vesicles for fusion with the membrane (tethering and docking) and ends when molecules are secreted from the cell.
leucine transport	The directed movement of leucine, 2-amino-4-methylpentanoic acid, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.
regulation of establishment or maintenance of cell polarity	Any process that modulates the frequency, rate or extent of the specification, formation or maintenance of anisotropic intracellular organization or cell growth patterns.
regulation of Notch signaling pathway	Any process that modulates the frequency, rate or extent of the Notch signaling pathway.
regulation of protein secretion	Any process that modulates the frequency, rate or extent of the controlled release of a protein from a cell.

12 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P38163	SRO77	Lethal(2) giant larvae protein homolog SRO77	Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast)	PR
Q12038	SRO7	Lethal(2) giant larvae protein homolog SRO7	Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast)	PR
Q15334	LLGL1	Lethal(2) giant larvae protein homolog 1	Homo sapiens (Human)	PR
Q9Y2K9	STXBP5L	Syntaxin-binding protein 5-like	Homo sapiens (Human)	PR
Q5T5C0	STXBP5	Syntaxin-binding protein 5	Homo sapiens (Human)	PR
Q80Y17	Llgl1	Lethal(2) giant larvae protein homolog 1	Mus musculus (Mouse)	PR
Q8K400	Stxbp5	Syntaxin-binding protein 5	Mus musculus (Mouse)	PR
Q5DQR4	Stxbp5l	Syntaxin-binding protein 5-like	Mus musculus (Mouse)	PR
Q8K4K5	Llgl1	Lethal(2) giant larvae protein homolog 1	Rattus norvegicus (Rat)	PR
Q9WU70	Stxbp5	Syntaxin-binding protein 5	Rattus norvegicus (Rat)	PR
Q5SQE2	stxbp5l	Syntaxin-binding protein 5-like	Danio rerio (Zebrafish) (Brachydanio rerio)	PR
Q7SZE3	llgl2	LLGL scribble cell polarity complex component 2	Danio rerio (Zebrafish) (Brachydanio rerio)	PR

10	20	30	40	50	60
MRRFLRPGHD	PVRERLKRDL	FQFNKTVEHG	FPHQPSALGY	SPSLRILAIG	TRSGAIKLYG
70	80	90	100	110	120
APGVEFMGLH	QENNAVTQIH	LLPGQCQLVT	LLDDNSLHLW	SLKVKGGASE	LQEDESFTLR
130	140	150	160	170	180
GPPGAAPSAT	QITVVLPHSS	CELLYLGTES	GNVFVVQLPA	FRALEDRTIS	SDAVLQRLPE
190	200	210	220	230	240
EARHRRVFEM	VEALQEHPRD	PNQILIGYSR	GLVVIWDLQG	SRVLYHFLSS	QQLENIWWQR
250	260	270	280	290	300
DGRLLVSCHS	DGSYCQWPVS	SEAQQPEPLR	SLVPYGPFPC	KAITRILWLT	TRQGLPFTIF
310	320	330	340	350	360
QGGMPRASYG	DRHCISVIHD	GQQTAFDFTS	RVIGFTVLTE	ADPAATFDDP	YALVVLAEEE
370	380	390	400	410	420
LVVIDLQTAG	WPPVQLPYLA	SLHCSAITCS	HHVSNIPLKL	WERIIAAGSR	QNAHFSTMEW
430	440	450	460	470	480
PIDGGTSLTP	APPQRDLLLT	GHEDGTVRFW	DASGVCLRLL	YKLSTVRVFL	TDTDPNENFS
490	500	510	520	530	540
AQGEDEWPPL	RKVGSFDPYS	DDPRLGIQKI	FLCKYSGYLA	VAGTAGQVLV	LELNDEAAEQ
550	560	570	580	590	600
AVEQVEADLL	QDQEGYRWKG	HERLAARSGP	VRFEPGFQPF	VLVQCQPPAV	VTSLALHSEW
610	620	630	640	650	660
RLVAFGTSHG	FGLFDHQQRR	QVFVKCTLHP	SDQLALEGPL	SRVKSLKKSL	RQSFRRMRRS
670	680	690	700	710	720
RVSSRKRHPA	GPPGEAQEGS	AKAERPGLQN	MELAPVQRKI	EARSAEDSFT	GFVRTLYFAD
730	740	750	760	770	780
TYLKDSSRHC	PSLWAGTNGG	TIYAFSLRVP	PAERRMDEPV	RAEQAKEIQL	MHRAPVVGIL
790	800	810	820	830	840
VLDGHSVPLP	EPLEVAHDLS	KSPDMQGSHQ	LLVVSEEQFK	VFTLPKVSAK	LKLKLTALEG
850	860	870	880	890	900
SRVRRVSVAH	FGSRRAEDYG	EHHLAVLTNL	GDIQVVSLPL	LKPQVRYSCI	RREDVSGIAS
910	920	930	940	950	960
CVFTKYGQGF	YLISPSEFER	FSLSTKWLVE	PRCLVDSAET	KNHRPGNGAG	PKKAPSRARN
970	980	990	1000	1010
SGTQSDGEEK	QPGLVMERAL	LSDERVLKEI	QSTLEGDRGS	GNWRSHRAAV	GCSLSNGGAE