AiPD: Autoinhibited Protein Database

Q8N122

Gene name	RPTOR
Protein name	Regulatory-associated protein of mTOR
Names	Raptor, p150 target of rapamycin (TOR)-scaffold protein
Species	Homo sapiens (Human)
KEGG Pathway	hsa:57521
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

828-922 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

828-922 (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

15 structures for Q8N122

Entry ID	Method	Resolution	Chain	Position	Source
5H64	EM	440 A	B/b	1-1335	PDB
6BCU	EM	343 A	W/Y	2-1335	PDB
6BCX	EM	300 A	W/Y	2-1335	PDB
6SB0	EM	550 A	N/Y	1-1335	PDB
6SB2	EM	620 A	N/Y	1-1335	PDB
6U62	EM	318 A	A	1-1335	PDB
7OWG	EM	470 A	Y	1-1335	PDB
7PEA	EM	407 A	E/F	1-1335	PDB
7PEB	EM	367 A	E	1-1335	PDB
7PEC	EM	424 A	E	1-1335	PDB
7UX2	EM	290 A	A	1-1335	PDB
7UXC	EM	320 A	C	1-1335	PDB
7UXH	EM	320 A	E/U	1-1335	PDB
8ERA	EM	286 A	Y	1-1335	PDB
AF-Q8N122-F1	Predicted				AlphaFoldDB

769 variants for Q8N122

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA401724421 rs1235012626	3	S>T		No	ClinGen TOPMed
rs1452246652 CA401724454	7	Q>L		No	ClinGen gnomAD
CA8824399 rs149692261	10	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA401724474 rs1337012855	11	L>M		No	ClinGen gnomAD
CA8824400 rs763932975	12	G>A		No	ClinGen ExAC TOPMed gnomAD
CA401724479 rs1228533870	12	G>S		No	ClinGen gnomAD
rs910845504 CA294840696	13	L>V		No	ClinGen TOPMed
rs756899692 CA8824402	14	G>E		No	ClinGen ExAC gnomAD
rs753480688 CA8824401	14	G>R		No	ClinGen ExAC gnomAD
CA8824403 rs199973721	16	E>G		No	ClinGen 1000Genomes ExAC gnomAD
rs1480197232 CA401724511	17	D>G		No	ClinGen gnomAD
TCGA novel	17	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA401724526 rs1252660502	19	A>D		No	ClinGen TOPMed gnomAD
TCGA novel	24	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1170261745 CA401724572	25	N>K		No	ClinGen TOPMed
rs377330508 CA8824405	25	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1417375252 CA401724574	26	L>V		No	ClinGen gnomAD
rs1167397160 CA401724592	29	A>S		No	ClinGen TOPMed gnomAD
TCGA novel	29	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8824407 rs748678875	34	R>M		No	ClinGen ExAC gnomAD
CA8824408 rs770106611	41	G>V		No	ClinGen ExAC gnomAD
rs554243110 CA8824409	42	S>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs749504457 CA401724696	43	K>R		No	ClinGen ExAC TOPMed gnomAD
CA8824410 rs749504457	43	K>T		No	ClinGen ExAC TOPMed gnomAD
CA401724733 rs1488798485	48	S>R		No	ClinGen TOPMed
TCGA novel	52	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8824437 rs760557051	58	V>A		No	ClinGen ExAC gnomAD
TCGA novel	61	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	67	N>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	69	G>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA294889113 rs868781940	73	P>S		No	ClinGen Ensembl
rs111448951 CA294889133	78	T>A		No	ClinGen Ensembl
rs765839062 CA8824444	79	T>M		No	ClinGen ExAC gnomAD
rs778275536 CA8824447	80	P>S		No	ClinGen ExAC gnomAD
rs1316429908 CA401727595	82	A>P		No	ClinGen gnomAD
CA8824449 rs375687715	83	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA401727601 rs1465623616	83	R>H		No	ClinGen gnomAD
CA294925000 rs767364543	89	D>G		No	ClinGen Ensembl
CA8824452 rs772240053	89	D>H		No	ClinGen ExAC gnomAD
CA8824453 rs772240053	89	D>N		No	ClinGen ExAC gnomAD
CA8824482 rs759088888	92	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA8824483 rs201259050	95	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA401388010 rs1358902026	96	Q>P		No	ClinGen TOPMed gnomAD
rs1407646725 CA401388069	99	L>R		No	ClinGen TOPMed
CA8824485 rs762326172	101	T>A		No	ClinGen ExAC gnomAD
CA8824486 rs765671860	102	I>V		No	ClinGen ExAC gnomAD
TCGA novel	109	Q>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA401386961 COSM1387149 rs1463759489	118	R>W	liver large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs1232774896 CA401387077	125	P>A		No	ClinGen gnomAD
CA401387091 rs1358915352	126	T>A		No	ClinGen TOPMed
rs894606341 CA294931069	129	E>D		No	ClinGen TOPMed gnomAD
CA401387141 rs1276062341	130	V>I		No	ClinGen gnomAD
CA401387158 rs1345131138	131	K>N		No	ClinGen gnomAD
CA294931074 rs1006399505	135	T>M	Variant assessed as Somatic; 4.636e-05 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA401387251 rs1452445269 COSM196429	138	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs767783333 CA8824511	139	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA401387284 rs1299432885	141	A>T		No	ClinGen TOPMed
TCGA novel	150	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs376362855 CA8824513	151	N>S		No	ClinGen ESP ExAC
TCGA novel	152	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs777976406 CA8824514	152	G>S		No	ClinGen ExAC gnomAD
rs1321588879 CA401388590	156	P>S		No	ClinGen gnomAD
rs778786780 CA8824517	157	R>L		No	ClinGen ExAC TOPMed gnomAD
rs778786780 CA401388606	157	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA401388649 rs1304060472	160	V>D		No	ClinGen gnomAD
CA8824518 rs578192504	160	V>F		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	165	W>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	169	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8824541 rs780768526	172	T>M		No	ClinGen ExAC gnomAD
CA294949122 rs150208057	177	L>V		No	ClinGen ESP TOPMed gnomAD
rs181909860 CA8824544	179	I>M		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	180	Y>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs374764141 CA8824546	184	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs764350295 CA8824549	186	M>T		No	ClinGen ExAC
rs1167403602 CA401394490	189	P>Q		No	ClinGen gnomAD
CA294949175 rs377507180	198	N>S		No	ClinGen ESP TOPMed gnomAD
CA8824556 rs751301732	202	I>M		No	ClinGen ExAC TOPMed gnomAD
rs766187958 CA8824555	202	I>T		No	ClinGen ExAC gnomAD
rs780774569 CA8824558	203	V>I		No	ClinGen ExAC TOPMed gnomAD
CA401394601 rs1325650599	206	F>L		No	ClinGen gnomAD
TCGA novel	208	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs560409938 CA8824561	210	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs560409938 CA8824560	210	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs745951041 CA294949253	210	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA401394641 rs1206022118	212	Q>E		No	ClinGen gnomAD
CA401394644 rs1279845048	212	Q>R		No	ClinGen gnomAD
rs912026038 CA294949273	213	R>Q		No	ClinGen TOPMed gnomAD
CA401394681 rs1428362119	218	E>K		No	ClinGen gnomAD
rs1362913463 CA401400442	219	V>L		No	ClinGen gnomAD
rs763087965 CA8824590	220	A>T		No	ClinGen ExAC gnomAD
rs1007936254 CA294968172	221	A>S		No	ClinGen TOPMed gnomAD
CA8824592 rs774322929	222	I>N		No	ClinGen ExAC gnomAD
rs202162615 CA8824591	222	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA294968177 rs1040497651	223	N>H		No	ClinGen Ensembl
rs900695520 CA401400479	224	P>A		No	ClinGen TOPMed gnomAD
rs759439718 CA8824593	224	P>R		No	ClinGen ExAC TOPMed gnomAD
CA294968187 rs900695520	224	P>S		No	ClinGen TOPMed gnomAD
rs767244769 CA8824594	225	N>D		No	ClinGen ExAC gnomAD
CA294968198 rs918244890	225	N>I		No	ClinGen TOPMed
rs752487778 CA8824595	225	N>K		No	ClinGen ExAC gnomAD
CA401400490 rs1598282449	226	H>P		No	ClinGen Ensembl
rs1226818064 CA401400497	227	P>S		No	ClinGen gnomAD
CA8824597 rs763731531	229	A>G		No	ClinGen ExAC gnomAD
rs996811481 CA294968201	229	A>P		No	ClinGen gnomAD
rs753532930 CA8824598	231	M>V		No	ClinGen ExAC gnomAD
rs778541724 CA8824600	235	P>L		No	ClinGen ExAC TOPMed gnomAD
CA8824603 rs781427409	236	S>L		No	ClinGen ExAC TOPMed gnomAD
CA401400633 rs1244115699	239	N>S		No	ClinGen TOPMed
CA401400630 rs1244115699	239	N>T		No	ClinGen TOPMed
CA294968220 rs929646067	242	Q>H		No	ClinGen TOPMed
CA8824606 rs778029024	247	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA8824613 rs760580837	257	D>N		No	ClinGen ExAC TOPMed gnomAD
CA8824614 rs760580837	257	D>Y		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	259	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA294968328 rs960754155	264	T>A		No	ClinGen Ensembl
rs960754155 CA401400922	264	T>P		No	ClinGen Ensembl
rs1243463222 CA401401026	271	I>V		No	ClinGen gnomAD
rs1240277584 CA401401057	272	K>E		No	ClinGen TOPMed
COSM473520 CA294968329 rs148973724	274	A>T	kidney Variant assessed as Somatic; 5.032e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP NCI-TCGA TOPMed gnomAD
rs1481790013 CA401401133	276	R>C		No	ClinGen gnomAD
rs749898610 CA8824618	276	R>H		No	ClinGen ExAC gnomAD
rs755449026 CA8824619	277	W>L		No	ClinGen ExAC
rs762583016 CA401412877	280	M>L		No	ClinGen ExAC gnomAD
CA8824637 rs762583016	280	M>V		No	ClinGen ExAC gnomAD
CA8824638 rs765785590	281	Q>H		No	ClinGen ExAC gnomAD
rs375780793 CA8824639	283	C>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA401412959 rs1414065826 COSM1224273	285	S>G	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
rs370420966 CA8824640	287	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1361255662 CA401412988	288	P>S		No	ClinGen gnomAD
CA401412999 rs1567913210	289	G>S		No	ClinGen Ensembl
CA8824644 rs374127851	290	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA8824646 rs758550959	293	D>G		No	ClinGen ExAC gnomAD
rs1343677311 CA401413077	295	I>T		No	ClinGen gnomAD
CA8824661 rs757676238	301	R>C		No	ClinGen ExAC TOPMed gnomAD
COSM301136 CA401416407 rs1345238365	301	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs750696876 CA8824663	304	D>N		No	ClinGen ExAC gnomAD
rs1209272303 CA401416472	306	R>K		No	ClinGen gnomAD
CA8824669 rs748079762	324	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA8824671 rs138579924	327	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs748995553 CA8824672	328	L>V		No	ClinGen ExAC gnomAD
rs1227574862	330	R>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs201102317 CA294977326	330	R>P		No	ClinGen 1000Genomes TOPMed gnomAD
COSM708696 rs201102317 CA294977325	330	R>Q	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated 1000Genomes NCI-TCGA TOPMed gnomAD
CA8824674 rs773914053	330	R>W		No	ClinGen ExAC TOPMed gnomAD
rs751875538 CA8824701	332	L>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	345	S>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1598330917 CA401417732	354	E>G		No	ClinGen Ensembl
CA8824706 rs764001440	359	S>W		No	ClinGen ExAC gnomAD
CA401417869 rs1392466498	360	Y>C		No	ClinGen TOPMed
CA401417884 rs1228428421	361	N>D		No	ClinGen gnomAD
CA401417892 rs1567931518	361	N>S		No	ClinGen Ensembl
rs181528423 CA294978213	362	C>Y		No	ClinGen 1000Genomes
CA401417927 rs1255689438	363	T>P		No	ClinGen gnomAD
rs1255689438 CA401417931	363	T>S		No	ClinGen gnomAD
CA8824708 rs757047831	364	P>S		No	ClinGen ExAC gnomAD
rs533542132 CA8824710	365	V>F		No	ClinGen 1000Genomes ExAC gnomAD
CA401418012 rs1464794709	367	S>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA401418021 rs1187233769	367	S>I		No	ClinGen gnomAD
CA401418042 rs1301463689	368	P>L		No	ClinGen TOPMed
rs144071963 CA294978249	369	R>C		No	ClinGen ESP gnomAD
rs144071963 CA294978246	369	R>G		No	ClinGen ESP gnomAD
CA8824712 rs376501662	369	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs768201076 CA8824714	372	P>R		No	ClinGen ExAC gnomAD
rs1387655925 CA401418118	373	T>M		No	ClinGen gnomAD
rs749772749 CA8824716	375	M>T		No	ClinGen ExAC gnomAD
CA401418169 rs1364157584	376	H>D		No	ClinGen gnomAD
CA8824717 rs771235157	377	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1310623750 CA401418199	378	M>I		No	ClinGen gnomAD
TCGA novel	381	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1426680049 CA401412481	383	D>E		No	ClinGen gnomAD
rs929584625 CA294933906	391	S>F		No	ClinGen TOPMed
CA401412541 rs1408254240	393	L>V		No	ClinGen gnomAD
CA8824746 rs766132128	394	P>L		No	ClinGen ExAC gnomAD
CA8824748 rs370002882	395	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA8824752 rs779619777	398	E>A		No	ClinGen ExAC gnomAD
CA401412569 rs1273326444	398	E>K		No	ClinGen gnomAD
rs1472376462 CA401412588	400	G>A		No	ClinGen gnomAD
rs1472376462 CA401412589	400	G>V		No	ClinGen gnomAD
CA8824754 rs772600066	401	T>P		No	ClinGen ExAC gnomAD
CA8824755 rs780423020	402	A>V		No	ClinGen ExAC gnomAD
TCGA novel	404	R>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA401412611 rs768865288	404	R>L		No	ClinGen ExAC TOPMed gnomAD
CA8824757 rs768865288	404	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA294943219 rs972896302	406	S>G		No	ClinGen TOPMed gnomAD
rs922237067 COSM1579117 CA294943228	407	P>L	upper_aerodigestive_tract [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs1384748732 CA401413438	410	A>G		No	ClinGen TOPMed gnomAD
CA401413436 rs1567946390	410	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA401413468 rs763716081	415	A>S		No	ClinGen ExAC TOPMed gnomAD
CA8824786 rs763716081	415	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1338724662 CA401413485	417	Q>L		No	ClinGen Ensembl
rs1567946427 CA401413489	418	V>L		No	ClinGen Ensembl
CA401413502 rs1347858081	419	W>C		No	ClinGen gnomAD
CA401413511 rs1436002635	421	T>S		No	ClinGen TOPMed
CA8824789 rs370810342	422	M>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs758978960 CA8824788	422	M>V		No	ClinGen ExAC TOPMed gnomAD
CA8824790 rs751988867	423	G>A		No	ClinGen ExAC gnomAD
CA8824792 rs374210888	424	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA401413551 rs1284870590	427	R>L		No	ClinGen gnomAD
CA401413552 rs1284870590	427	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	431	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs777839906 CA8824795	436	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1294065763 CA401415958	444	V>G		No	ClinGen gnomAD
CA401415956 rs1241181050	444	V>L		No	ClinGen gnomAD
CA401415986 rs1204708713	447	L>M		No	ClinGen gnomAD
TCGA novel	452	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1464863648 CA401417246	467	A>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	469	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs369890089 CA294952934	469	S>T		No	ClinGen ESP
CA8824849 rs199793733	476	V>M		No	ClinGen ExAC gnomAD
CA8824850 rs764460229	480	L>F		No	ClinGen ExAC gnomAD
rs1451572855 CA401417590	481	Q>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA8824851 rs754090886	483	S>L		No	ClinGen ExAC TOPMed gnomAD
CA401417624 rs1287132306	483	S>P		No	ClinGen gnomAD
CA401417635 rs754090886	483	S>W		No	ClinGen ExAC TOPMed gnomAD
CA8824853 rs765443624	484	A>P		No	ClinGen ExAC gnomAD
CA401417655 rs1225687497	485	R>G		No	ClinGen gnomAD
CA401417663 rs572833876	485	R>P		No	ClinGen 1000Genomes ExAC gnomAD
rs572833876 CA8824854	485	R>Q		No	ClinGen 1000Genomes ExAC gnomAD
rs780248757 CA8824856	488	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs758599889 CA8824855	488	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1567952367 CA401417734	489	P>L		No	ClinGen Ensembl
rs1000105279 CA294953010	492	V>I		No	ClinGen gnomAD
rs781139927 CA401417876	496	A>S		No	ClinGen ExAC gnomAD
rs781139927 CA8824859	496	A>T		No	ClinGen ExAC gnomAD
CA8824861 rs755927307	500	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA294981191 rs895748701	504	S>L		No	ClinGen TOPMed gnomAD
CA401420423 rs1598374586	508	D>A		No	ClinGen Ensembl
CA401420434 rs1168278166	510	V>M		No	ClinGen TOPMed
CA8824888 rs76608178	513	N>T		No	ClinGen ExAC gnomAD
rs766776341 CA8824890	514	G>S		No	ClinGen ExAC TOPMed gnomAD
rs995035426 CA294981260	520	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA401420519 rs1245766584	522	L>P		No	ClinGen TOPMed
rs149125700 CA8824893	523	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs756025816 CA8824895	525	P>H		No	ClinGen ExAC gnomAD
CA401420538 rs756025816	525	P>L		No	ClinGen ExAC gnomAD
CA401420553 rs1381233644	527	M>I		No	ClinGen TOPMed gnomAD
rs1273435609 CA401420551	527	M>T		No	ClinGen gnomAD
CA401420548 rs1215962730	527	M>V		No	ClinGen gnomAD
CA401420560 rs1322614757	528	P>L		No	ClinGen gnomAD
rs1354465589 CA401421024	531	H>N		No	ClinGen TOPMed
CA8824924 rs771456961	532	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs746088030 CA8824926	534	M>I		No	ClinGen ExAC gnomAD
CA8824925 rs779375554	534	M>T		No	ClinGen ExAC TOPMed gnomAD
CA401421094 rs1382109137	534	M>V		No	ClinGen gnomAD
CA294982933 rs866939416	535	T>K		No	ClinGen Ensembl
rs866939416 CA294982937	535	T>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
TCGA novel	539	L>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs760863690 CA8824929	540	A>S		No	ClinGen ExAC TOPMed gnomAD
rs760863690 CA401421230	540	A>T		No	ClinGen ExAC TOPMed gnomAD
CA294982965 rs771848926	541	V>E		No	ClinGen TOPMed gnomAD
CA8824933 rs765037698	541	V>M		No	ClinGen ExAC TOPMed gnomAD
CA294982970 rs1046298474	543	V>I		No	ClinGen TOPMed
rs548409186 CA8824935	548	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA401421453 rs1398377231	557	N>S		No	ClinGen gnomAD
TCGA novel	558	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA401421464 rs1466061215	559	I>V		No	ClinGen gnomAD
CA294983233 rs943518678	561	I>V		No	ClinGen gnomAD
rs753964006 CA294983244	568	D>N		No	ClinGen gnomAD
CA401421537 rs1249969458	569	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA401421535 rs1249969458	569	P>Q		No	ClinGen TOPMed gnomAD
CA401421541 rs1598376656	570	H>P		No	ClinGen Ensembl
rs750870985 CA8824962	571	P>H		No	ClinGen ExAC TOPMed gnomAD
rs750870985 CA8824961	571	P>L		No	ClinGen ExAC TOPMed gnomAD
CA401421564 rs1184854653	574	R>C		No	ClinGen gnomAD
TCGA novel	574	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1190646605 CA401421586	577	V>L		No	ClinGen TOPMed gnomAD
rs1190646605 CA401421585	577	V>M		No	ClinGen TOPMed gnomAD
rs1182386721 CA401421598	579	I>V		No	ClinGen TOPMed
rs766823565 CA294983289	580	C>*		No	ClinGen Ensembl
CA8824967 rs748286798	582	G>S		No	ClinGen ExAC TOPMed gnomAD
rs769844404 CA8824968	584	I>V		No	ClinGen ExAC gnomAD
rs1304591853 CA401421683	589	D>N		No	ClinGen gnomAD
CA294983307 rs958232972	590	S>L		No	ClinGen TOPMed
rs1598376709 CA401421755	593	W>G		No	ClinGen Ensembl
CA8824975 rs775264665	595	G>S		No	ClinGen ExAC gnomAD
rs1598376721 CA401421823	596	V>G		No	ClinGen Ensembl
TCGA novel	598	D>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs763663200 CA8824977	605	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA401421997 rs1256073346	606	S>G		No	ClinGen gnomAD
CA294983358 rs962629512	610	D>N		No	ClinGen TOPMed gnomAD
rs1598376739 CA401422078	612	I>V		No	ClinGen Ensembl
rs372325672 CA8824979	613	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	615	V>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA401422429 rs1180507699	615	V>I		No	ClinGen gnomAD
CA401422437 rs1440436634	616	R>C		No	ClinGen gnomAD
CA8825015 rs779943676	618	A>S		No	ClinGen ExAC TOPMed gnomAD
CA8825016 rs779943676	618	A>T		No	ClinGen ExAC TOPMed gnomAD
CA401422452 rs1407305893	618	A>V		No	ClinGen gnomAD
CA8825017 rs768126116 COSM176715	619	A>V	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA294984423 rs934531586	620	V>I		No	ClinGen Ensembl
CA8825020 rs769317295	622	A>T		No	ClinGen ExAC TOPMed gnomAD
CA401422475 rs1376954277	622	A>V		No	ClinGen gnomAD
rs1312309316 CA401422501	624	G>A		No	ClinGen gnomAD
rs146011201 CA8825022	625	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA8825025 rs199928822	627	V>M		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	628	G>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs764277455 CA8825026	630	S>F		No	ClinGen ExAC gnomAD
rs1460830996 CA401422650	633	R>S		No	ClinGen gnomAD
CA401422659 rs1203049670	634	T>M		No	ClinGen gnomAD
CA8825029 rs765318427	641	D>N		No	ClinGen ExAC TOPMed gnomAD
CA294984470 rs141852316	642	H>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA gnomAD
rs1334043851 CA401422772	644	V>M		No	ClinGen gnomAD
CA401422778 rs1448287393	645	A>T		No	ClinGen gnomAD
CA401422790 rs1359463998	646	M>I		No	ClinGen gnomAD
rs1220183424 CA401422799	647	M>I		No	ClinGen gnomAD
rs1322641600 CA401422813	650	Q>*		No	ClinGen gnomAD
rs1028379167 CA294984520	650	Q>H		No	ClinGen Ensembl
rs1201768212 CA401422817	650	Q>R		No	ClinGen gnomAD
CA8825032 rs139699519	652	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs149781099 CA8825034	654	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs897296009 CA294984565	657	P>A		No	ClinGen TOPMed gnomAD
CA401422860 rs897296009	657	P>S		No	ClinGen TOPMed gnomAD
rs1480395492 CA401422872	658	M>I		No	ClinGen gnomAD
CA401422864 rs1424793567	658	M>L		No	ClinGen TOPMed gnomAD
rs1171400798 CA401422873	659	V>I		No	ClinGen gnomAD
rs1414587834 CA401422885	661	K>E		No	ClinGen gnomAD
rs1317043218 CA401422887	661	K>M		No	ClinGen gnomAD
rs748851118 CA8825059	664	V>M		No	ClinGen ExAC TOPMed gnomAD
CA401423841 rs1598382470	665	V>G		No	ClinGen Ensembl
CA401423844 rs1235798338 COSM24246	666	A>S	lung [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs1456067450 CA401423865	669	H>R		No	ClinGen TOPMed gnomAD
TCGA novel	671	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8825063 rs768927275	674	Y>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs372641715 CA294990294	675	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA TOPMed
CA401424003 rs1329273227	681	V>M		No	ClinGen TOPMed gnomAD
CA8825066 rs770209703	682	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA294990330 rs201041107	684	Q>H		No	ClinGen Ensembl
CA8825068 rs763165003	684	Q>R		No	ClinGen ExAC gnomAD
rs751472732 CA8825070	686	I>V		No	ClinGen ExAC gnomAD
CA401424176 rs752600548	693	A>S		No	ClinGen ExAC TOPMed gnomAD
CA8825073 rs752600548	693	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1428058138 CA401424202	695	P>T		No	ClinGen TOPMed
CA401424217 rs1598382533	697	P>S		No	ClinGen Ensembl
CA8825074 rs755886225	698	A>V		No	ClinGen ExAC TOPMed gnomAD
CA8825076 rs753461897	699	T>N		No	ClinGen ExAC TOPMed gnomAD
CA401424234 rs1426259389	700	T>A		No	ClinGen gnomAD
CA401425188 rs1567972004	704	S>R		No	ClinGen Ensembl
rs1304693695 CA401425255	708	V>A		No	ClinGen TOPMed gnomAD
CA8825097 rs757834467	708	V>L		No	ClinGen ExAC gnomAD
rs781747303 CA8825098	709	R>G		No	ClinGen ExAC gnomAD
CA8825099 rs145440027	709	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed
rs1399643636 CA401425266	710	D>N		No	ClinGen TOPMed gnomAD
CA294991141 rs1042349452	711	S>N		No	ClinGen TOPMed
CA8825101 rs778224744	712	P>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	712	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	713	C>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	713	C>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA401425287 rs1301241620	713	C>R		No	ClinGen gnomAD
rs1234727878 CA401425305	715	P>R		No	ClinGen gnomAD
rs774420445 CA8825104	717	L>H		No	ClinGen ExAC gnomAD
CA294991154 rs201330391	718	R>H		No	ClinGen TOPMed gnomAD
CA401425324 rs1265025514	719	S>P		No	ClinGen gnomAD
rs77384529 COSM401746 CA294991158	720	V>L	lung [Cosmic]	No	ClinGen cosmic curated TOPMed
rs77384529 CA401425330	720	V>M		No	ClinGen TOPMed
rs746004921 CA8825105	722	S>A		No	ClinGen ExAC gnomAD
CA8825107 rs775533360	724	G>V		No	ClinGen ExAC gnomAD
CA401425383 rs776346134	728	A>G		No	ClinGen ExAC gnomAD
rs763893399 CA401425382	728	A>S		No	ClinGen ExAC gnomAD
CA8825109 rs763893399	728	A>T		No	ClinGen ExAC gnomAD
CA8825110 rs776346134	728	A>V		No	ClinGen ExAC gnomAD
CA8825111 rs761593973	729	V>I		No	ClinGen ExAC TOPMed gnomAD
rs764999701 CA8825112	730	A>T		No	ClinGen ExAC TOPMed gnomAD
rs765757190 CA8825115	732	A>D		No	ClinGen ExAC gnomAD
CA8825116 rs146910847	734	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA294991230 rs146910847	734	S>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs778418999 CA401425463	741	N>D		No	ClinGen ExAC gnomAD
TCGA novel	741	N>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs778418999 CA8825118	741	N>Y		No	ClinGen ExAC gnomAD
rs1237481465 CA401425478	743	S>T		No	ClinGen gnomAD
CA8825144 rs202047167	750	G>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA401425538 rs202047167	750	G>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA401425535 rs1598384379	750	G>S		No	ClinGen Ensembl
rs371707022 CA8825146	751	A>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs371707022 CA8825147	751	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA8825148 rs140597469	751	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA401425543 rs1380916703	752	V>M		No	ClinGen TOPMed gnomAD
rs762802025 CA8825150	753	A>T		No	ClinGen ExAC gnomAD
CA8825151 rs770546124	753	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA401425565 rs759154872	755	S>F		No	ClinGen ExAC gnomAD
CA8825153 rs759154872	755	S>Y		No	ClinGen ExAC gnomAD
CA401425571 rs1209535416	756	P>L		No	ClinGen gnomAD
rs185118480 CA8825155	757	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1598384432 CA401425582	758	N>T		No	ClinGen Ensembl
CA294992262 rs910802262	759	L>F		No	ClinGen TOPMed
CA401425599 rs1423426116	761	T>A		No	ClinGen gnomAD
rs1423426116 CA401425598	761	T>P		No	ClinGen gnomAD
CA401425608 rs1455943560	762	S>T		No	ClinGen TOPMed
CA8825157 rs150308688	765	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA401425649 rs1598384458	768	T>P		No	ClinGen Ensembl
CA401425658 rs1598384460	769	L>P		No	ClinGen Ensembl
CA401425665 rs1413357077	770	G>V		No	ClinGen gnomAD
rs1163896758 CA401425671	771	S>I		No	ClinGen TOPMed gnomAD
CA294992289 rs973974543	773	E>K		No	ClinGen gnomAD
rs919820997 CA294992290	774	N>T		No	ClinGen Ensembl
CA294992291 rs906157707	776	E>D		No	ClinGen TOPMed
rs559933074 CA8825159	777	H>R		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	778	I>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs779984233 CA294992317	782	E>Q		No	ClinGen Ensembl
rs781190662 CA8825163	788	R>C		No	ClinGen ExAC gnomAD
rs374232748 CA8825165	789	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA401425799 rs1196323454	790	A>S		No	ClinGen TOPMed gnomAD
rs1196323454 CA401425798	790	A>T		No	ClinGen TOPMed gnomAD
CA401425804 rs1330542020	791	S>G		No	ClinGen TOPMed
rs749083508 CA8825167	794	S>A		No	ClinGen ExAC gnomAD
rs1174616052 CA401425869	801	G>R		No	ClinGen TOPMed
CA294959104 rs576763185	802	V>I		No	ClinGen gnomAD
rs1425576043 CA401413122	803	S>P		No	ClinGen TOPMed
CA8825202 rs753729432	821	D>N		No	ClinGen ExAC gnomAD
CA8825204 rs778993531	822	P>S		No	ClinGen ExAC gnomAD
rs745717737 CA8825205	823	Y>N		No	ClinGen ExAC gnomAD
CA8825206 rs200333750	824	P>A		No	ClinGen 1000Genomes ExAC gnomAD
rs746634928 CA8825209	825	E>A		No	ClinGen ExAC gnomAD
CA8825210 rs776150629	825	E>D		No	ClinGen ExAC TOPMed gnomAD
CA8825208 rs746634928	825	E>G		No	ClinGen ExAC gnomAD
CA8825207 rs371722129	825	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs1393327607 CA401413297	827	S>L		No	ClinGen gnomAD
rs771485772 CA8825212	829	V>A		No	ClinGen ExAC gnomAD
rs747651471 CA8825211	829	V>M		No	ClinGen ExAC TOPMed gnomAD
CA401413310 rs1486579828	830	A>T		No	ClinGen TOPMed
CA401413314 rs1244520756	830	A>V		No	ClinGen TOPMed
rs1598394830 CA401413330	832	K>R		No	ClinGen Ensembl
rs1013369579 CA294959218	834	L>F		No	ClinGen TOPMed gnomAD
CA8825213 rs774815193	836	S>C		No	ClinGen ExAC gnomAD
CA294959225 rs774815193	836	S>G		No	ClinGen ExAC gnomAD
rs1293489421 CA401413364	837	I>M		No	ClinGen TOPMed
rs1490429040 CA401413359	837	I>V		No	ClinGen TOPMed
rs1255569294 CA401413365	838	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA8825214 rs759932332	838	A>V		No	ClinGen ExAC gnomAD
CA401413374 rs1226652059	839	Y>C		No	ClinGen TOPMed
CA8825215 rs767880361	840	K>E		No	ClinGen ExAC gnomAD
CA401413693 rs1486153205	841	A>T		No	ClinGen gnomAD
CA8825254 rs747458527	842	T>S		No	ClinGen ExAC gnomAD
rs368832014 CA8825256	843	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs770010373 CA8825258	845	A>T	Variant assessed as Somatic; 7.382e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA294970508 rs868675626	846	R>Q		No	ClinGen TOPMed gnomAD
rs762927626 CA8825260	847	P>L		No	ClinGen ExAC gnomAD
rs1454729862 CA401413776	848	Q>P		No	ClinGen gnomAD
CA401413785 rs1242627252	849	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs774124294 CA8825262	849	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs183024326 CA8825265	850	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA294970520 rs372899138	852	D>N		No	ClinGen ESP TOPMed
CA294970522 rs572538271	853	T>P		No	ClinGen 1000Genomes gnomAD
CA401413849 rs1375681933	854	S>Y		No	ClinGen gnomAD
CA401413890 rs1308845640	858	Q>R		No	ClinGen TOPMed gnomAD
CA401413901 rs1243824453	860	A>S		No	ClinGen gnomAD
rs865959581 CA294970535	861	P>H		No	ClinGen gnomAD
CA401413907 rs1263566040	861	P>S		No	ClinGen gnomAD
CA8825270 rs144632265	862	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs755417024 CA8825273	866	N>D		No	ClinGen ExAC gnomAD
rs1367177424 CA401413938	866	N>S		No	ClinGen gnomAD
rs138692722 CA8825274	868	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8825276 rs547787723	869	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8825277 rs547787723	869	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8825278 rs749424344	870	H>R		No	ClinGen ExAC gnomAD
rs774368199 CA8825280	871	I>T		No	ClinGen ExAC gnomAD
CA8825279 rs770875459	871	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1395173318 CA401413978	872	H>Q		No	ClinGen gnomAD
rs766200096	874	A>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA401413992 rs1310325848	874	A>V		No	ClinGen gnomAD
rs1233892873 CA401413993	875	G>R		No	ClinGen gnomAD
rs1353421203 CA401414177	876	G>S		No	ClinGen TOPMed
CA8825303 rs768404459	877	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs761314921 CA8825305	878	P>L		No	ClinGen ExAC TOPMed gnomAD
rs776371271 CA8825304	878	P>S		No	ClinGen ExAC gnomAD
CA401414195 rs1466918945	879	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1242169113 TCGA novel CA401414231	884	S>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen gnomAD
CA8825309 rs768178008	885	S>N		No	ClinGen ExAC TOPMed gnomAD
rs1480551850 CA401414256	888	L>P		No	ClinGen TOPMed
CA294971387 rs994896414	889	T>I		No	ClinGen TOPMed gnomAD
CA8825312 rs777941330	890	N>D		No	ClinGen ExAC TOPMed gnomAD
CA8825314 rs757484259	891	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA8825315 rs779180099	891	D>V		No	ClinGen ExAC
CA401414270 rs757484259	891	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs1349258367 CA401414280	892	V>A		No	ClinGen gnomAD
CA401414279 rs1349258367	892	V>E		No	ClinGen gnomAD
rs745993300 CA8825316	893	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1323990870 CA401414287	894	K>Q		No	ClinGen gnomAD
CA401414298 rs1303052413	895	Q>R		No	ClinGen TOPMed
CA294971448 rs377442287	896	P>A		No	ClinGen ESP
TCGA novel	896	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8825318 rs780000343	898	S>N		No	ClinGen ExAC gnomAD
rs1308946941 CA401414323	899	R>Q		No	ClinGen gnomAD
CA401414332 rs1279698879	900	D>E		No	ClinGen TOPMed
CA8825319 rs746905057	900	D>G		No	ClinGen ExAC gnomAD
CA401414328 rs1294810982	900	D>H		No	ClinGen TOPMed gnomAD
rs1285527703 CA401414336	901	L>S		No	ClinGen gnomAD
CA8825321 rs776223335	902	P>L		No	ClinGen ExAC gnomAD
rs772888470 CA8825324	905	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA8825323 rs769393175	905	R>W		No	ClinGen ExAC gnomAD
CA8825326 rs765937595	906	P>L		No	ClinGen ExAC TOPMed gnomAD
CA401414363 rs765937595	906	P>R		No	ClinGen ExAC TOPMed gnomAD
rs762582186 CA8825325	906	P>S		No	ClinGen ExAC gnomAD
rs965845936 CA294971528	910	G>S		No	ClinGen TOPMed
rs144539543 CA8825328	912	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs764655156 CA8825329	913	G>R		No	ClinGen ExAC gnomAD
CA8825330 rs754209706	914	A>V		No	ClinGen ExAC TOPMed gnomAD
CA8825332 rs779047405	915	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA8825333 rs750606990	918	P>H		No	ClinGen ExAC
rs1280517804 CA401414461	922	Q>R		No	ClinGen gnomAD
rs780055332 CA8825335	924	P>S		No	ClinGen ExAC gnomAD
CA401414481 rs1232044935	925	R>Q		No	ClinGen gnomAD
rs1334868419 CA401414501	927	R>Q		No	ClinGen gnomAD
rs746953724 CA8825336	927	R>W		No	ClinGen ExAC gnomAD
CA401416586 rs1242071172	937	T>I		No	ClinGen TOPMed gnomAD
rs199756138 CA8825413	938	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1390339463 CA401416600	939	D>N		No	ClinGen gnomAD
rs760865448 CA8825416	940	D>N		No	ClinGen ExAC TOPMed gnomAD
rs200660726 CA8825418	941	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8825419 rs141785387	941	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA8825421 rs750295544	942	D>G		No	ClinGen ExAC TOPMed gnomAD
rs1428653743 CA401416647	942	D>Y		No	ClinGen gnomAD
rs779796967 CA8825423	943	D>N		No	ClinGen ExAC TOPMed gnomAD
rs751135257 CA8825424	944	A>T		No	ClinGen ExAC gnomAD
rs754508859 CA8825425	944	A>V		No	ClinGen ExAC gnomAD
CA8825426 rs200090551 CA401416692	946	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC TOPMed gnomAD NCI-TCGA
CA401416712 rs1315671083	947	H>L		No	ClinGen gnomAD
rs558724262 CA8825427	948	K>R		No	ClinGen 1000Genomes ExAC gnomAD
CA401416735 rs1248175194	949	S>N		No	ClinGen gnomAD
TCGA novel	950	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs201694764 CA8825429	950	F>S		No	ClinGen 1000Genomes ExAC gnomAD
CA8825428 rs201694764	950	F>Y		No	ClinGen 1000Genomes ExAC gnomAD
CA8825430 rs746283460	952	S>C		No	ClinGen ExAC gnomAD
CA401416767 rs1191412360	952	S>P		No	ClinGen gnomAD
CA8825432 rs201551267 COSM1387169	953	A>T	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs1405688859 CA401416786	954	T>A		No	ClinGen gnomAD
CA8825433 rs150835528 COSM1387170	954	T>M	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs776918039 CA8825435	955	V>M		No	ClinGen ExAC gnomAD
CA8825436 rs761971525	956	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs200514795 CA294973427	957	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA401416816 rs1598404899	959	F>V		No	ClinGen Ensembl
CA294973438 rs992024271	961	D>N		No	ClinGen TOPMed gnomAD
rs762841211 CA8825439	963	S>N		No	ClinGen ExAC gnomAD
CA8825440 rs200161901	964	A>T		No	ClinGen ExAC TOPMed gnomAD
rs542518961 CA8825441	965	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1211315034 CA401416860	965	R>H		No	ClinGen TOPMed gnomAD
rs754689340 CA8825442	966	Y>H		No	ClinGen ExAC TOPMed gnomAD
rs767140695 CA8825443	967	F>L		No	ClinGen ExAC gnomAD
rs1366947724 CA401416893	970	P>S		No	ClinGen TOPMed
CA8825445 rs368064754	971	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1182756845 CA401416903	972	M>V		No	ClinGen gnomAD
CA401418566 rs1250415645	975	P>L		No	ClinGen TOPMed gnomAD
rs763452127 CA8825466	977	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA8825468 rs367842679	978	H>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA401418613 rs1407228699	982	S>N		No	ClinGen gnomAD
CA401418634 rs1267979714	985	R>C		No	ClinGen gnomAD
rs752019047 CA8825470	985	R>H		No	ClinGen ExAC TOPMed gnomAD
rs752019047 CA401418637	985	R>L		No	ClinGen ExAC TOPMed gnomAD
rs1279422937 CA401418645	986	K>N		No	ClinGen gnomAD
CA401418642 rs1228855496	986	K>R		No	ClinGen gnomAD
rs147686617 CA8825471	988	R>Q		No	ClinGen ESP ExAC gnomAD
CA401418655 rs1484629953	988	R>W		No	ClinGen gnomAD
CA8825472 rs781599712	991	R>L		No	ClinGen ExAC TOPMed gnomAD
CA401418678 rs781599712	991	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA401418686 rs1280597154	992	F>L		No	ClinGen TOPMed
CA8825475 rs777779433	993	L>M		No	ClinGen ExAC gnomAD
CA401418692 rs1451626205	994	R>*		No	ClinGen TOPMed gnomAD
CA8825476 rs749371236	994	R>Q		No	ClinGen ExAC TOPMed gnomAD
COSM1387172 rs201400170 CA8825477	997	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA8825478 rs543153955	997	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs373559321 CA8825481	1002	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs760177017 CA8825482	1003	Q>E		No	ClinGen ExAC gnomAD
rs140939117 CA8825484	1007	Q>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs956178301 CA294988124	1007	Q>L		No	ClinGen TOPMed gnomAD
CA8825485 rs761365473	1009	G>S		No	ClinGen ExAC gnomAD
CA401419038 rs1180219872	1009	G>V		No	ClinGen gnomAD
rs752129121 CA8825505	1011	T>M		No	ClinGen ExAC gnomAD
rs1442538561 CA401419069	1014	D>G		No	ClinGen TOPMed
rs1187467897 CA401419073	1015	D>N		No	ClinGen TOPMed gnomAD
CA401419075 rs1187467897	1015	D>Y		No	ClinGen TOPMed gnomAD
TCGA novel	1017	I>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA401419116 rs1235769226	1020	N>K		No	ClinGen gnomAD
CA8825509 rs370037798	1021	R>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA401419122 rs1395444488	1021	R>S		No	ClinGen gnomAD
CA401419126 rs1598416928	1022	N>T		No	ClinGen Ensembl
rs1389494202 CA401419124	1022	N>Y		No	ClinGen gnomAD
CA8825510 rs764249284	1023	P>L	Variant assessed as Somatic; 4.621e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA8825512 rs757342290	1024	G>S		No	ClinGen ExAC TOPMed gnomAD
rs149834841 CA8825514	1025	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs746820147 CA8825518	1032	H>P		No	ClinGen ExAC gnomAD
rs1415075578 CA401419192	1032	H>Q		No	ClinGen gnomAD
CA8825520 rs776174012	1035	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs769436510 CA8825522	1036	P>L		No	ClinGen ExAC gnomAD
CA401419214 rs1372152202	1036	P>S		No	ClinGen gnomAD
CA401419226 rs1371087333	1038	I>V		No	ClinGen gnomAD
rs368881284 CA8825526	1039	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA8825528 rs569635813	1040	V>I		No	ClinGen 1000Genomes ExAC gnomAD
rs1307148616 COSM1224276 CA401419250	1042	D>N	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs1035349809 CA294991693	1045	S>I		No	ClinGen TOPMed gnomAD
TCGA novel	1048	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA401419323 rs1248289659	1050	D>N		No	ClinGen gnomAD
rs1453498755 CA401419332 CA401419333	1051	W>R		No	ClinGen gnomAD
rs1189260765 CA401419342	1052	E>K		No	ClinGen gnomAD
rs1200340162 CA401419362	1055	E>K		No	ClinGen TOPMed gnomAD
TCGA novel	1056	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs867512225 CA294992592	1057	L>M		No	ClinGen Ensembl
rs766428272 CA8825554	1062	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1598417962 CA401419431	1064	N>T		No	ClinGen Ensembl
CA8825556 rs755012671	1066	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1434467586 CA401419443	1066	R>W		No	ClinGen Ensembl
CA294992625 rs774849952	1068	T>K		No	ClinGen Ensembl
rs755930511 CA8825559	1069	R>K		No	ClinGen ExAC gnomAD
CA401419465 rs1598417985	1070	V>F		No	ClinGen Ensembl
CA294992641 rs867755263	1073	M>V		No	ClinGen Ensembl
rs748888786 CA8825561	1075	Y>H		No	ClinGen ExAC gnomAD
rs1215226681 CA401419521	1078	G>D		No	ClinGen TOPMed
COSM985763 rs371494149 CA8825563	1078	G>S	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs866112670 CA294992653	1081	C>R		No	ClinGen Ensembl
rs1210058566 CA401419548	1082	S>P		No	ClinGen gnomAD
CA8825565 rs769256048	1083	L>R		No	ClinGen ExAC gnomAD
rs1416242832 CA401419632	1093	I>M		No	ClinGen TOPMed gnomAD
CA401419628 rs1161634864	1093	I>V		No	ClinGen gnomAD
rs773638483 CA8825587	1094	R>M		No	ClinGen ExAC gnomAD
TCGA novel	1094	R>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs773638483 CA401419636	1094	R>T		No	ClinGen ExAC gnomAD
TCGA novel	1100	A>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1196091389 CA401419678	1100	A>S		No	ClinGen TOPMed
CA401419688 rs1435329516	1101	D>G		No	ClinGen gnomAD
CA8825588 rs763216049	1101	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs898871865 CA294993905	1104	K>R		No	ClinGen TOPMed gnomAD
rs771237366 CA8825589	1108	M>I		No	ClinGen ExAC gnomAD
CA401419750 rs1242021251	1110	T>A		No	ClinGen gnomAD
CA8825591 COSM2804286 rs759681695	1116	S>L	liver [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA8825594 rs760760990	1117	D>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs775569344 CA8825593	1117	D>G		No	ClinGen ExAC gnomAD
rs764109263 CA8825595	1118	M>V		No	ClinGen ExAC gnomAD
CA401419824 rs1441841406	1121	T>M		No	ClinGen gnomAD
rs749994413 CA8825599	1122	T>M		No	ClinGen ExAC TOPMed gnomAD
CA401419834 rs1168322545	1123	R>Q		No	ClinGen gnomAD
CA401420184 rs1387736762	1130	D>V		No	ClinGen gnomAD
rs375323774 CA8825630	1134	E>G		No	ClinGen ESP ExAC gnomAD
rs1431821689 CA401420223	1135	T>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA8825632 COSM247125 rs761590823	1136	G>S	prostate [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA401420236 rs1471943070	1137	L>R		No	ClinGen gnomAD
CA8825634 rs772940410	1138	L>I		No	ClinGen ExAC gnomAD
CA294999882 rs903707218	1140	S>G		No	ClinGen TOPMed
rs762719466 CA8825635	1140	S>N		No	ClinGen ExAC
rs141612114 CA8825638	1143	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
COSM3820958 CA8825639 rs766868607	1144	V>M	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs564814581 CA8825641	1147	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8825642 rs150362357	1151	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA401420328 rs1357242716	1152	T>A		No	ClinGen TOPMed
CA294999905 rs1010687194	1152	T>I		No	ClinGen Ensembl
CA8825643 rs750857501	1154	R>C		No	ClinGen ExAC TOPMed gnomAD
CA401420342 rs758794401	1154	R>H		No	ClinGen ExAC TOPMed gnomAD
CA8825644 rs758794401	1154	R>L		No	ClinGen ExAC TOPMed gnomAD
CA8825645 rs375788793	1158	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	1160	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA401420585 rs1277429730	1161	I>F		No	ClinGen TOPMed
rs755216173 CA8825667	1165	A>T		No	ClinGen ExAC gnomAD
CA401420648 rs1342049284	1170	T>M		No	ClinGen TOPMed gnomAD
rs1480636216 CA401420691	1176	S>F		No	ClinGen gnomAD
CA8825672 rs749152667	1178	R>C		No	ClinGen ExAC gnomAD
rs1187755693 CA401420702	1178	R>H		No	ClinGen gnomAD
TCGA novel	1178	R>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA401420724 rs1389264031	1182	V>M		No	ClinGen TOPMed gnomAD
rs774186171 CA8825674	1183	A>S		No	ClinGen ExAC gnomAD
CA401420745 rs1598426952	1185	L>P		No	ClinGen Ensembl
CA8825676 rs771660225	1186	G>S		No	ClinGen ExAC gnomAD
CA401420762 rs1398062769	1188	G>C		No	ClinGen gnomAD
COSM137128 rs771723844 CA295001886	1191	R>C	skin [Cosmic]	No	ClinGen cosmic curated Ensembl
CA8825680 rs375708825	1192	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs375708825 CA295001899	1192	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA295001905 rs550538333	1193	Y>F		No	ClinGen 1000Genomes
CA8825681 rs763624128	1200	S>N		No	ClinGen ExAC gnomAD
rs752022821 CA8825683	1201	E>D		No	ClinGen ExAC gnomAD
CA8825706 rs752994517	1203	R>H		No	ClinGen ExAC gnomAD
CA401420874 rs1177316988	1203	R>S		No	ClinGen gnomAD
rs773251080 CA8825708	1204	V>I		No	ClinGen ExAC TOPMed gnomAD
rs773251080 CA401420881	1204	V>L		No	ClinGen ExAC TOPMed gnomAD
rs138318172 CA295002980	1206	T>M		No	ClinGen ESP TOPMed gnomAD
CA401420909 rs1370430300	1207	Y>H		No	ClinGen gnomAD
rs757285630 CA8825710	1208	R>L		No	ClinGen ExAC gnomAD
rs757285630 CA8825711	1208	R>Q		No	ClinGen ExAC gnomAD
rs1034257924 COSM175574 CA295002988	1208	R>W	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA401420924 rs1326619477	1209	E>Q		No	ClinGen gnomAD
rs1284562746 CA401420973	1213	W>R		No	ClinGen gnomAD
CA295002996 rs985010259	1215	V>M		No	ClinGen TOPMed gnomAD
rs1490513109 CA401421067	1220	Q>K		No	ClinGen gnomAD
rs1016127311 CA295003002	1222	R>C		No	ClinGen gnomAD
CA401421102 rs1016127311	1222	R>G		No	ClinGen gnomAD
CA8825712 COSM1387176 rs143802144	1222	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA401421108 rs1471668335	1223	P>S		No	ClinGen gnomAD
rs112261045 CA8825716	1224	D>E		No	ClinGen ExAC gnomAD
CA8825714 rs779966402	1224	D>H		No	ClinGen ExAC TOPMed gnomAD
CA401421118 rs779966402	1224	D>N		No	ClinGen ExAC TOPMed gnomAD
CA8825717 rs780963796	1225	G>S		No	ClinGen ExAC gnomAD
CA401421155 rs1320438986	1226	H>R		No	ClinGen TOPMed
CA8825719 rs147241989	1228	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8825718 rs147241989	1228	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs994706506 CA295003029	1230	V>M		No	ClinGen TOPMed
rs777396934 CA8825739	1232	V>I		No	ClinGen ExAC TOPMed gnomAD
rs142332444 CA8825740	1233	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8825741 rs772672009	1235	D>H		No	ClinGen ExAC gnomAD
TCGA novel	1236	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1476697249 CA401421730	1237	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA8825743 rs761048420	1237	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1476697249 CA401421726	1237	R>S		No	ClinGen gnomAD
rs768950828 CA8825744	1238	I>L		No	ClinGen ExAC gnomAD
CA401421740 rs1351444340	1238	I>T		No	ClinGen TOPMed
rs1216290585 CA401421770	1241	P>T		No	ClinGen gnomAD
rs1412263248 CA401421783	1242	R>Q		No	ClinGen gnomAD
TCGA novel	1242	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs537048199 CA8825745	1244	P>L		No	ClinGen 1000Genomes ExAC gnomAD
CA401421836 rs1598428580	1247	V>L		No	ClinGen Ensembl
rs1255308942 CA401421847	1248	N>T		No	ClinGen gnomAD
CA401421855 rs1434079874	1249	V>M		No	ClinGen gnomAD
rs1328103626 CA401421880	1251	Q>P		No	ClinGen gnomAD
TCGA novel	1251	Q>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs750566631 CA8825748	1252	I>M		No	ClinGen ExAC gnomAD
CA401421899 rs762913188 COSM1387177	1253	V>L	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA8825749 rs762913188	1253	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1198817759 CA401421935	1256	L>P		No	ClinGen gnomAD
CA401421944 rs1212387005	1257	T>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA8825751 rs751407036	1258	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA401421979 rs1568014140	1261	I>V		No	ClinGen Ensembl
rs754837363 CA401422003	1263	P>S		No	ClinGen ExAC gnomAD
CA8825752 rs754837363	1263	P>T		No	ClinGen ExAC gnomAD
CA8825754 rs373830598	1264	Q>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs373830598 CA401422012	1264	Q>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA401422027 rs1429511398	1265	A>G		No	ClinGen TOPMed gnomAD
rs755877140 CA8825755	1265	A>T		No	ClinGen ExAC gnomAD
CA401422029 rs1429511398	1265	A>V		No	ClinGen TOPMed gnomAD
rs1598428617 CA401422040	1266	D>A		No	ClinGen Ensembl
rs1386816509 CA401422068	1269	A>T		No	ClinGen gnomAD
rs1006356769 CA295004015	1271	G>A		No	ClinGen TOPMed gnomAD
rs771184410 CA8825789	1273	V>F		No	ClinGen ExAC TOPMed gnomAD
COSM1324738 rs771184410 CA295004025	1273	V>I	ovary Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs771184410 CA8825788	1273	V>L		No	ClinGen ExAC TOPMed gnomAD
CA401422140 rs1419349263	1274	N>H		No	ClinGen gnomAD
CA8825790 rs759654534	1274	N>S		No	ClinGen ExAC gnomAD
rs1598428880 CA401422163	1277	T>P		No	ClinGen Ensembl
CA8825791 rs192396767	1279	I>V		No	ClinGen 1000Genomes ExAC gnomAD
CA401422190 rs775516355	1281	N>D		No	ClinGen ExAC TOPMed gnomAD
rs775516355 CA8825792	1281	N>H		No	ClinGen ExAC TOPMed gnomAD
CA8825793 rs201115099	1281	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA8825795 rs763728814	1283	S>C		No	ClinGen ExAC gnomAD
rs763728814 CA8825794	1283	S>G		No	ClinGen ExAC gnomAD
CA295004093 rs987417975	1284	G>R		No	ClinGen Ensembl
CA401422229 rs1375849652	1287	I>V		No	ClinGen gnomAD
CA8825797 rs764921496	1288	N>K		No	ClinGen ExAC gnomAD
CA401422243 rs1312314695	1289	N>D		No	ClinGen gnomAD
rs757866049 CA8825799	1293	Y>H		No	ClinGen ExAC gnomAD
CA401422286 rs1342162303	1294	D>E		No	ClinGen gnomAD
CA8825801 rs753148409	1295	G>S		No	ClinGen ExAC gnomAD
rs1007443740 CA295004107	1300	R>W		No	ClinGen TOPMed
CA401422336 rs1480686908	1302	G>S		No	ClinGen gnomAD
TCGA novel	1303	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8825805 rs139333301	1305	S>G		No	ClinGen ESP ExAC gnomAD
CA295004120 rs12601015	1305	S>R		No	ClinGen Ensembl
CA401422360 rs1276921133	1306	C>S		No	ClinGen TOPMed
TCGA novel	1311	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs867771641 CA295004139	1312	H>Q		No	ClinGen Ensembl
CA401422491 rs1177338282	1314	P>R		No	ClinGen gnomAD
CA401422500 rs1598430141	1315	H>P		No	ClinGen Ensembl
CA401422527 rs371220837 CA401422525	1318	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs371220837 CA8825843	1318	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs750814274 CA8825845	1321	N>S		No	ClinGen ExAC gnomAD
rs780300677 CA8825848	1322	D>N		No	ClinGen ExAC TOPMed gnomAD
rs780300677 CA8825847	1322	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs755045262 CA8825849	1323	Y>S		No	ClinGen ExAC gnomAD
TCGA novel	1326	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1044306323 CA295005410	1327	V>M		No	ClinGen TOPMed
CA401422652 rs1225229302	1329	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA295005412 rs899266882	1330	V>M		No	ClinGen TOPMed
rs1486230618 CA401422673	1331	E>G		No	ClinGen TOPMed
rs1320914484 CA401422696	1333	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA401422698 rs1220113516	1333	R>H		No	ClinGen gnomAD
rs1568015636 CA401422706	1334	V>L		No	ClinGen Ensembl
rs1214732951 CA401422727	1336	R>Q		No	ClinGen TOPMed

No associated diseases with Q8N122

9 regional properties for Q8N122

Type	Name	Position	InterPro Accession
repeat	HEAT repeat	604 - 627	IPR000357
repeat	WD40 repeat	1012 - 1050	IPR001680-1
repeat	WD40 repeat	1052 - 1097	IPR001680-2
repeat	WD40 repeat	1105 - 1151	IPR001680-3
repeat	WD40 repeat	1154 - 1194	IPR001680-4
repeat	WD40 repeat	1200 - 1240	IPR001680-5
repeat	WD40 repeat	1246 - 1281	IPR001680-6
repeat	WD40 repeat	1283 - 1329	IPR001680-7
domain	Raptor, N-terminal CASPase-like domain	54 - 207	IPR029347

Functions

		Description
EC Number
Subcellular Localization	Lysosome membrane Cytoplasm Cytoplasmic granule	Targeting to lysosomes depends on amino acid availability: recruited to lysosome membranes via interaction with GTP-bound form of RagA/RRAGA (or RagB/RRAGB) in complex with the GDP-bound form of RagC/RRAGC (or RagD/RRAGD), promoting recruitment of mTORC1 to the lysosomes (PubMed:31601708, PubMed:31601764) In arsenite-stressed cells, accumulates in stress granules when associated with SPAG5 and association with lysosomes is drastically decreased (PubMed:23953116)
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

9 GO annotations of cellular component

Name	Definition
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytoplasmic stress granule	A dense aggregation in the cytosol composed of proteins and RNAs that appear when the cell is under stress.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
dendrite	A neuron projection that has a short, tapering, morphology. Dendrites receive and integrate signals from other neurons or from sensory stimuli, and conduct nerve impulses towards the axon or the cell body. In most neurons, the impulse is conveyed from dendrites to axon via the cell body, but in some types of unipolar neuron, the impulse does not travel via the cell body.
lysosomal membrane	The lipid bilayer surrounding the lysosome and separating its contents from the cell cytoplasm.
lysosome	A small lytic vacuole that has cell cycle-independent morphology found in most animal cells and that contains a variety of hydrolases, most of which have their maximal activities in the pH range 5-6. The contained enzymes display latency if properly isolated. About 40 different lysosomal hydrolases are known and lysosomes have a great variety of morphologies and functions.
neuronal cell body	The portion of a neuron that includes the nucleus, but excludes cell projections such as axons and dendrites.
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.
TORC1 complex	A protein complex that contains at least TOR (target of rapamycin) and Raptor (regulatory-associated protein of TOR), or orthologs of, in complex with other signaling components. Mediates the phosphorylation and activation of S6K. In Saccharomyces, the complex contains Kog1p, Lst8p, Tco89p, and either Tor1p or Tor2p.

10 GO annotations of molecular function

Name	Definition
14-3-3 protein binding	Binding to a 14-3-3 protein. A 14-3-3 protein is any of a large family of approximately 30kDa acidic proteins which exist primarily as homo- and heterodimers within all eukaryotic cells, and have been implicated in the modulation of distinct biological processes by binding to specific phosphorylated sites on diverse target proteins, thereby forcing conformational changes or influencing interactions between their targets and other molecules. Each 14-3-3 protein sequence can be roughly divided into three sections: a divergent amino terminus, the conserved core region and a divergent carboxy-terminus. The conserved middle core region of the 14-3-3s encodes an amphipathic groove that forms the main functional domain, a cradle for interacting with client proteins.
protein kinase activator activity	Binds to and increases the activity of a protein kinase, an enzyme which phosphorylates a protein.
protein kinase binding	Binding to a protein kinase, any enzyme that catalyzes the transfer of a phosphate group, usually from ATP, to a protein substrate.
protein serine/threonine kinase inhibitor activity	Binds to and stops, prevents or reduces the activity of a protein serine/threonine kinase.
protein-containing complex binding	Binding to a macromolecular complex.
protein-macromolecule adaptor activity	The binding activity of a protein that brings together two or more macromolecules in contact, permitting those molecules to function in a coordinated way. The adaptor can bring together two proteins, or a protein and another macromolecule such as a lipid or a nucleic acid.
RNA polymerase III type 1 promoter sequence-specific DNA binding	Binding to a sequence of DNA that is a part of a type 1 promoter that controls transcription by RNA polymerase III. Type 1 promoters are found in 5S rRNA genes, downstream of the transcription start site within the sequence of the mature RNA, and require TFIIIA for recognition.
RNA polymerase III type 2 promoter sequence-specific DNA binding	Binding to a sequence of DNA that is a part of a type 2 promoter that controls transcription by RNA polymerase III. Type 2 promoters consist of an A box and a B box downstream of the transcription start site within the sequence within the sequence of the mature RNA. Type 2 promoters are found in many tRNA genes as well as in other small RNAs.
RNA polymerase III type 3 promoter sequence-specific DNA binding	Binding to a sequence of DNA that is a part of a type 3 promoter that controls transcription by RNA polymerase III (Pol III). A type 3 Pol III promoter is composed of elements upstream of the transcription start site, including a TATA box. The human U6 snRNA gene has a type 3 promoter. Type 3 Pol III promoters have not been observed in S. cerevisiae.
TFIIIC-class transcription factor complex binding	Binding to a general RNA polymerase III transcription factor belonging to the TFIIC complex, one of the factors involved in formation of the preinitiation complex (PIC) by RNA polymerase III.

27 GO annotations of biological process

Name	Definition
cellular response to amino acid stimulus	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an amino acid stimulus. An amino acid is a carboxylic acids containing one or more amino groups.
cellular response to DNA damage stimulus	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating damage to its DNA from environmental insults or errors during metabolism.
cellular response to hypoxia	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating lowered oxygen tension. Hypoxia, defined as a decline in O2 levels below normoxic levels of 20.8 - 20.95%, results in metabolic adaptation at both the cellular and organismal level.
cellular response to leucine	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a leucine stimulus.
cellular response to nutrient levels	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus reflecting the presence, absence, or concentration of nutrients.
cellular response to osmotic stress	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating an increase or decrease in the concentration of solutes outside the organism or cell.
cellular response to starvation	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of deprivation of nourishment.
negative regulation of autophagy	Any process that stops, prevents, or reduces the frequency, rate or extent of autophagy. Autophagy is the process in which cells digest parts of their own cytoplasm.
phosphorylation	The process of introducing a phosphate group into a molecule, usually with the formation of a phosphoric ester, a phosphoric anhydride or a phosphoric amide.
positive regulation of cell growth	Any process that activates or increases the frequency, rate, extent or direction of cell growth.
positive regulation of endothelial cell proliferation	Any process that activates or increases the rate or extent of endothelial cell proliferation.
positive regulation of G1/S transition of mitotic cell cycle	Any signalling pathway that increases or activates a cell cycle cyclin-dependent protein kinase to modulate the switch from G1 phase to S phase of the mitotic cell cycle.
positive regulation of glycolytic process	Any process that activates or increases the frequency, rate or extent of glycolysis.
positive regulation of lipid biosynthetic process	Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of lipids.
positive regulation of pentose-phosphate shunt	Any process that activates or increases the frequency, rate or extent of pentose-phosphate shunt.
positive regulation of peptidyl-serine phosphorylation	Any process that activates or increases the frequency, rate or extent of the phosphorylation of peptidyl-serine.
positive regulation of peptidyl-threonine phosphorylation	Any process that increases the frequency, rate or extent of peptidyl-threonine phosphorylation. Peptidyl-threonine phosphorylation is the phosphorylation of peptidyl-threonine to form peptidyl-O-phospho-L-threonine.
positive regulation of protein serine/threonine kinase activity	Any process that increases the rate, frequency, or extent of protein serine/threonine kinase activity.
positive regulation of TOR signaling	Any process that activates or increases the frequency, rate or extent of TOR signaling.
positive regulation of transcription by RNA polymerase III	Any process that activates or increases the frequency, rate or extent of transcription mediated by RNA polymerase III.
regulation of autophagy	Any process that modulates the frequency, rate or extent of autophagy. Autophagy is the process in which cells digest parts of their own cytoplasm.
regulation of cell growth	Any process that modulates the frequency, rate, extent or direction of cell growth.
regulation of cell size	Any process that modulates the size of a cell.
response to xenobiotic stimulus	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus from a xenobiotic, a compound foreign to the organim exposed to it. It may be synthesized by another organism (like ampicilin) or it can be a synthetic chemical.
social behavior	Behavior directed towards society, or taking place between members of the same species. Occurs predominantly, or only, in individuals that are part of a group.
TOR signaling	The series of molecular signals mediated by TOR (Target of rapamycin) proteins, members of the phosphoinositide (PI) 3-kinase related kinase (PIKK) family that act as serine/threonine kinases in response to nutrient availability or growth factors.
TORC1 signaling	A series of intracellular molecular signals mediated by TORC1; TOR (target of rapamycin) in complex with at least Raptor (regulatory-associated protein of TOR), or orthologs of, and other signaling components.

2 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P38873	KOG1	Target of rapamycin complex 1 subunit KOG1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast)	PR
Q8K4Q0	Rptor	Regulatory-associated protein of mTOR	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MESEMLQSPL	LGLGEEDEAD	LTDWNLPLAF	MKKRHCEKIE	GSKSLAQSWR	MKDRMKTVSV
70	80	90	100	110	120
ALVLCLNVGV	DPPDVVKTTP	CARLECWIDP	LSMGPQKALE	TIGANLQKQY	ENWQPRARYK
130	140	150	160	170	180
QSLDPTVDEV	KKLCTSLRRN	AKEERVLFHY	NGHGVPRPTV	NGEVWVFNKN	YTQYIPLSIY
190	200	210	220	230	240
DLQTWMGSPS	IFVYDCSNAG	LIVKSFKQFA	LQREQELEVA	AINPNHPLAQ	MPLPPSMKNC
250	260	270	280	290	300
IQLAACEATE	LLPMIPDLPA	DLFTSCLTTP	IKIALRWFCM	QKCVSLVPGV	TLDLIEKIPG
310	320	330	340	350	360
RLNDRRTPLG	ELNWIFTAIT	DTIAWNVLPR	DLFQKLFRQD	LLVASLFRNF	LLAERIMRSY
370	380	390	400	410	420
NCTPVSSPRL	PPTYMHAMWQ	AWDLAVDICL	SQLPTIIEEG	TAFRHSPFFA	EQLTAFQVWL
430	440	450	460	470	480
TMGVENRNPP	EQLPIVLQVL	LSQVHRLRAL	DLLGRFLDLG	PWAVSLALSV	GIFPYVLKLL
490	500	510	520	530	540
QSSARELRPL	LVFIWAKILA	VDSSCQADLV	KDNGHKYFLS	VLADPYMPAE	HRTMTAFILA
550	560	570	580	590	600
VIVNSYHTGQ	EACLQGNLIA	ICLEQLNDPH	PLLRQWVAIC	LGRIWQNFDS	ARWCGVRDSA
610	620	630	640	650	660
HEKLYSLLSD	PIPEVRCAAV	FALGTFVGNS	AERTDHSTTI	DHNVAMMLAQ	LVSDGSPMVR
670	680	690	700	710	720
KELVVALSHL	VVQYESNFCT	VALQFIEEEK	NYALPSPATT	EGGSLTPVRD	SPCTPRLRSV
730	740	750	760	770	780
SSYGNIRAVA	TARSLNKSLQ	NLSLTEESGG	AVAFSPGNLS	TSSSASSTLG	SPENEEHILS
790	800	810	820	830	840
FETIDKMRRA	SSYSSLNSLI	GVSFNSVYTQ	IWRVLLHLAA	DPYPEVSDVA	MKVLNSIAYK
850	860	870	880	890	900
ATVNARPQRV	LDTSSLTQSA	PASPTNKGVH	IHQAGGSPPA	SSTSSSSLTN	DVAKQPVSRD
910	920	930	940	950	960
LPSGRPGTTG	PAGAQYTPHS	HQFPRTRKMF	DKGPEQTADD	ADDAAGHKSF	ISATVQTGFC
970	980	990	1000	1010	1020
DWSARYFAQP	VMKIPEEHDL	ESQIRKEREW	RFLRNSRVRR	QAQQVIQKGI	TRLDDQIFLN
1030	1040	1050	1060	1070	1080
RNPGVPSVVK	FHPFTPCIAV	ADKDSICFWD	WEKGEKLDYF	HNGNPRYTRV	TAMEYLNGQD
1090	1100	1110	1120	1130	1140
CSLLLTATDD	GAIRVWKNFA	DLEKNPEMVT	AWQGLSDMLP	TTRGAGMVVD	WEQETGLLMS
1150	1160	1170	1180	1190	1200
SGDVRIVRIW	DTDREMKVQD	IPTGADSCVT	SLSCDSHRSL	IVAGLGDGSI	RVYDRRMALS
1210	1220	1230	1240	1250	1260
ECRVMTYREH	TAWVVKASLQ	KRPDGHIVSV	SVNGDVRIFD	PRMPESVNVL	QIVKGLTALD
1270	1280	1290	1300	1310	1320
IHPQADLIAC	GSVNQFTAIY	NSSGELINNI	KYYDGFMGQR	VGAISCLAFH	PHWPHLAVGS
1330
NDYYISVYSV	EKRVR