AiPD: Autoinhibited Protein Database

Q9H2G2

Gene name	SLK (KIAA0204, STK2)
Protein name	STE20-like serine/threonine-protein kinase
Names	STE20-like kinase, hSLK, CTCL tumor antigen se20-9, STE20-related serine/threonine-protein kinase, STE20-related kinase, Serine/threonine-protein kinase 2
Species	Homo sapiens (Human)
KEGG Pathway	hsa:9748
EC number	2.7.11.1: Protein-serine/threonine kinases
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-52 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-52 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

172-195 (Activation loop from InterPro)

Target domain	34-292 (Protein kinase domain)
Relief mechanism
Assay

References

Yeon JH et al. (2016) "Systems-wide Identification of cis-Regulatory Elements in Proteins", Cell Systems, 2, 89-100

Autoinhibited structure

Activated structure

8 structures for Q9H2G2

Entry ID	Method	Resolution	Chain	Position	Source
2J51	X-ray	210 A	A	19-320	PDB
2JFL	X-ray	220 A	A	19-320	PDB
2JFM	X-ray	285 A	A	19-320	PDB
2UV2	X-ray	230 A	A	19-320	PDB
4USF	X-ray	175 A	A/B	19-320	PDB
6HVD	X-ray	163 A	A	19-320	PDB
8BEM	X-ray	260 A	A/B/D/G	19-319	PDB
AF-Q9H2G2-F1	Predicted				AlphaFoldDB

782 variants for Q9H2G2

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs755836378 CA5676776	3	F>L		No	ClinGen ExAC gnomAD
rs779771559	4	F>missing	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA5676777 rs766601211	5	N>H		No	ClinGen ExAC gnomAD
CA5676778 rs150455513	5	N>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1195980877 CA378048798	8	K>E		No	ClinGen gnomAD
CA212421221 rs910319044	9	I>V		No	ClinGen Ensembl
CA212421239 rs941659014	10	F>V		No	ClinGen Ensembl
CA378048861 rs1255009565	11	K>Q		No	ClinGen gnomAD
rs202109385 CA5676779	11	K>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1385863529 CA378048897	13	G>A		No	ClinGen gnomAD
CA5676780 rs779003989	14	S>G		No	ClinGen ExAC TOPMed gnomAD
CA5676782 rs748129895	16	K>E		No	ClinGen ExAC gnomAD
CA5676784 rs137997569	19	K>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5676785 rs747414273	20	Q>K		No	ClinGen ExAC TOPMed gnomAD
rs1368373563 CA378048996	20	Q>L		No	ClinGen gnomAD
CA378049149 rs1365105359	31	E>Q		No	ClinGen gnomAD
CA378049165 rs1274640138	32	D>N		No	ClinGen TOPMed
rs149480041 CA5676789	33	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA212421278 COSM537098 rs919031555	35	E>D	lung [Cosmic]	No	ClinGen cosmic curated TOPMed
rs929570500 CA212421281	36	I>V		No	ClinGen Ensembl
rs773930676 CA5676790	37	I>T		No	ClinGen ExAC TOPMed gnomAD
rs1336269517 CA378049236	38	G>R		No	ClinGen TOPMed
rs1057510292 CA212421290	39	E>Q		No	ClinGen TOPMed gnomAD
rs1255113661 CA378049262	40	L>P		No	ClinGen gnomAD
TCGA novel	41	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs201954327 CA212421334	50	K>R		No	ClinGen Ensembl
CA5676818 rs752920782	52	Q>H		No	ClinGen ExAC gnomAD
rs763235787 CA5676819	55	E>K		No	ClinGen ExAC gnomAD
rs764124311 CA5676820	57	S>G		No	ClinGen ExAC gnomAD
CA212408020 rs113216800	57	S>N		No	ClinGen TOPMed gnomAD
CA378041487 rs764124311	57	S>R		No	ClinGen ExAC gnomAD
CA378041501 rs1349477554	58	V>I		No	ClinGen gnomAD
CA378041520 rs1226416230	59	L>S		No	ClinGen gnomAD
CA5676821 rs751669856	62	A>G		No	ClinGen ExAC gnomAD
rs1053989234 CA212408058	66	D>N		No	ClinGen TOPMed
rs781748818 CA5676823	76	Y>H		No	ClinGen ExAC gnomAD
rs750818672 CA5676824	77	M>V		No	ClinGen ExAC gnomAD
TCGA novel	80	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA378041864 rs1471696317	84	A>T		No	ClinGen gnomAD
CA378041909 rs1363558171	88	H>P		No	ClinGen Ensembl
TCGA novel	89	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	90	N>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA378041955 rs1423780168	91	I>M		No	ClinGen TOPMed gnomAD
rs1179335957 CA378041947	91	I>V		No	ClinGen gnomAD
TCGA novel	92	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1163345868 CA378041977	93	K>R		No	ClinGen gnomAD
CA212408138 rs915391334	101	E>D		No	ClinGen TOPMed
CA378042110 rs1407550293	102	N>K		No	ClinGen gnomAD
rs1369562460 CA378042104	102	N>S		No	ClinGen gnomAD
rs780449786 CA5676827	102	N>Y		No	ClinGen ExAC gnomAD
rs1276790882 CA378042114	103	N>D		No	ClinGen gnomAD
rs1274057040 CA378042317	106	I>V		No	ClinGen gnomAD
rs1442061362 CA378042368	107	L>P		No	ClinGen gnomAD
rs1208769258 CA378042396	108	I>M		No	ClinGen TOPMed
rs1168855939 CA378042489	111	C>R		No	ClinGen gnomAD
CA378042510 rs866436222	112	A>E		No	ClinGen gnomAD
CA212409800 rs866436222	112	A>V		No	ClinGen gnomAD
CA5676846 rs11191893	117	D>N		No	ClinGen ExAC gnomAD
TCGA novel	121	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs80262674 CA212409841	122	E>*		No	ClinGen Ensembl
TCGA novel	124	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	134	V>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	135	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs745837156 CA5676864	140	L>F		No	ClinGen ExAC gnomAD
rs969467093 CA212410340	141	D>E		No	ClinGen TOPMed
CA5676865 rs769753407	141	D>N		No	ClinGen ExAC TOPMed
TCGA novel	143	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5676866 rs775173651	144	N>K		No	ClinGen ExAC gnomAD
rs749073551 CA5676867	147	H>Y		No	ClinGen ExAC gnomAD
CA5676868 rs768761847	148	D>G		No	ClinGen ExAC gnomAD
rs1403149915 CA378043210	149	N>S		No	ClinGen gnomAD
CA378043283 rs1299333481	159	G>V		No	ClinGen TOPMed
CA378043288 rs1346374328	160	N>S		No	ClinGen gnomAD
rs1398923972 CA378043313	164	T>A		No	ClinGen TOPMed
TCGA novel	165	L>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA378043326 rs1353495907	166	D>N		No	ClinGen gnomAD
rs767768980 CA5676871	168	D>A		No	ClinGen ExAC TOPMed gnomAD
rs767768980 CA378043342	168	D>G		No	ClinGen ExAC TOPMed gnomAD
rs144641250 CA5676870	168	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs144641250 CA378043341	168	D>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs773394053 CA5676872	169	I>T		No	ClinGen ExAC TOPMed gnomAD
CA5676890 rs772399871	178	A>G		No	ClinGen ExAC gnomAD
CA5676892 rs760767657	181	T>K		No	ClinGen ExAC TOPMed gnomAD
CA212415317 rs760767657	181	T>M		No	ClinGen ExAC TOPMed gnomAD
rs777253548 CA5676894	183	T>S		No	ClinGen ExAC TOPMed gnomAD
rs759958246 CA5676895	184	I>V		No	ClinGen ExAC gnomAD
CA378044562 rs1296713721	186	R>S		No	ClinGen gnomAD
CA378044649 rs1308915722	197	M>T		No	ClinGen gnomAD
CA5676918 rs146276432	202	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA5676919 rs763240798	203	M>K		No	ClinGen ExAC TOPMed gnomAD
CA378044689 rs763240798	203	M>T		No	ClinGen ExAC TOPMed gnomAD
rs1205312372 CA378044715	207	S>T		No	ClinGen gnomAD
TCGA novel	209	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA378044752 rs1485462759	212	Y>H		No	ClinGen gnomAD
CA212415663 rs951969604	214	Y>C		No	ClinGen TOPMed
CA212415665 rs1029900024	218	V>I		No	ClinGen Ensembl
CA5676921 rs750144332	219	W>*		No	ClinGen ExAC TOPMed gnomAD
rs1471617232 CA378044926	222	G>D		No	ClinGen gnomAD
CA5676923 rs765951157	224	T>A		No	ClinGen ExAC gnomAD
rs1198475381 CA378044989	225	L>S		No	ClinGen gnomAD
rs753264153 CA5676924	226	I>V		No	ClinGen ExAC gnomAD
rs148478778 CA5676925	231	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA378045224 rs1177598647	235	H>Y		No	ClinGen TOPMed gnomAD
CA212415689 rs907725896	236	H>Q		No	ClinGen TOPMed
CA212415729 rs1007099199	238	L>F		No	ClinGen Ensembl
rs752544214 CA5676927	241	M>I		No	ClinGen ExAC gnomAD
rs200677132 CA378045393	242	R>*		No	ClinGen 1000Genomes TOPMed gnomAD
rs1452191671 CA596111202	242	R>N		No	ClinGen gnomAD
rs758326834 CA5676928	242	R>Q		No	ClinGen ExAC gnomAD
rs1397523638 CA378045402	243	V>M		No	ClinGen TOPMed
CA5676930 rs747297791	244	L>M		No	ClinGen ExAC gnomAD
TCGA novel	249	K>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA378045613 rs1367504864	251	E>Q		No	ClinGen TOPMed
CA212415776 rs199953246	254	T>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs199953246 CA5676932	254	T>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA378045757 rs1589536032	257	Q>*		No	ClinGen Ensembl
rs1262391774 CA378045805	259	S>P		No	ClinGen gnomAD
CA378045862 rs1250888254	261	W>G		No	ClinGen TOPMed
CA5676951 rs200335070	263	S>P		No	ClinGen 1000Genomes ExAC gnomAD
rs997830536 CA212416378	264	N>D		No	ClinGen TOPMed
rs1409356550 CA378046206	267	D>G		No	ClinGen gnomAD
rs1030178369 CA212416401	269	L>I		No	ClinGen TOPMed
CA5676953 rs781208361	271	K>R		No	ClinGen ExAC TOPMed gnomAD
rs1162398225 CA378046328	272	C>R		No	ClinGen TOPMed gnomAD
CA5676954 rs745964451	275	K>E		No	ClinGen ExAC gnomAD
CA5676955 rs756241475	276	N>H		No	ClinGen ExAC gnomAD
rs780099608 CA5676956	276	N>S		No	ClinGen ExAC TOPMed gnomAD
CA5676957 rs749831859	277	V>L		No	ClinGen ExAC gnomAD
CA212416438 rs985845927	278	D>N		No	ClinGen TOPMed
rs1299604904 CA378046622	283	T>A		No	ClinGen gnomAD
CA5676958 rs769019113	283	T>I		No	ClinGen ExAC gnomAD
CA5676959 rs150555883	287	L>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1216504909 CA378046874	293	T>S		No	ClinGen gnomAD
rs749314143 CA5676976	295	D>G		No	ClinGen ExAC gnomAD
CA5676977 rs755539096	296	S>C		No	ClinGen ExAC TOPMed gnomAD
CA5676980 rs748558547	301	R>L		No	ClinGen ExAC TOPMed gnomAD
rs748558547 CA5676979	301	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA212417615 rs964761088	302	E>K		No	ClinGen TOPMed
rs769524606 CA5676983	307	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1288148666 CA378047037	308	K>N		No	ClinGen TOPMed
rs1453184650 CA378047061	312	T>A		No	ClinGen TOPMed
rs775172402 CA5676985	314	E>*		No	ClinGen ExAC gnomAD
CA5676986 rs762306317	315	V>A		No	ClinGen ExAC gnomAD
rs1408222970 CA378047081	315	V>L		No	ClinGen gnomAD
rs768654859 CA5676987	316	E>G		No	ClinGen ExAC gnomAD
CA212417634 rs995644979	317	D>E		No	ClinGen gnomAD
rs1343548438 CA378047093	317	D>H		No	ClinGen gnomAD
TCGA novel	318	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs774216274 CA5676988	319	K>R		No	ClinGen ExAC gnomAD
CA378047126 CA5676989 rs761802689	321	E>D		No	ClinGen ExAC TOPMed gnomAD
CA378047155 rs1197692953	325	E>G		No	ClinGen TOPMed
rs145464859 CA5676992	328	E>G		No	ClinGen ESP ExAC gnomAD
CA378047191 rs1205019165 COSM914453	330	S>Y	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs544469688 CA212418324	333	I>L		No	ClinGen 1000Genomes TOPMed
CA5677004 rs147685845	333	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA378048848 rs544469688	333	I>V		No	ClinGen 1000Genomes TOPMed
CA5677005 rs768121994	336	S>T		No	ClinGen ExAC gnomAD
CA5677006 rs773877151	337	K>N		No	ClinGen ExAC gnomAD
rs1344821024 CA378048922	337	K>R		No	ClinGen gnomAD
CA5677007 rs761701370	338	R>C		No	ClinGen ExAC TOPMed gnomAD
CA5677008 rs201543977	338	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA212418350 rs201543977	338	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5677010 rs373397561	340	S>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA378048944 rs1589537563	340	S>P		No	ClinGen Ensembl
rs766599427 CA5677011	343	L>F		No	ClinGen ExAC gnomAD
CA378049016 rs1422790583	345	I>V		No	ClinGen gnomAD
rs759799710 COSM2060148 CA5677013	346	A>T	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
TCGA novel	350	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1278943878 CA378049106	351	D>G		No	ClinGen gnomAD
CA5677015 rs765281537	358	C>S		No	ClinGen ExAC TOPMed gnomAD
rs1382824658 CA378049225	359	I>F		No	ClinGen TOPMed
rs1202348602 CA378049234	359	I>M		No	ClinGen gnomAD
CA378049278 rs1335734148	362	S>P		No	ClinGen TOPMed
CA212418426 rs1048366320	365	E>K		No	ClinGen TOPMed gnomAD
rs752774132 CA5677016	366	K>E		No	ClinGen ExAC gnomAD
rs201028021 CA5677017	367	T>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	367	T>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM1345621 rs140715399 CA5677018	369	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs751988215 CA5677019	369	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1356534985 CA378049404	371	N>S		No	ClinGen gnomAD
CA378049403 rs1266912672	371	N>Y		No	ClinGen TOPMed gnomAD
CA378049422 rs1248094728	373	E>G		No	ClinGen gnomAD
CA212418477 rs199730741	373	E>K		No	ClinGen Ensembl
CA378049459 rs1242431271	375	K>E		No	ClinGen gnomAD
rs1442925834 CA378049525	377	N>K		No	ClinGen gnomAD
CA378049520 rs1243796228	377	N>S		No	ClinGen TOPMed
rs1589537666 CA378049693	384	K>N		No	ClinGen Ensembl
rs1183262878 CA5677025	386	T>A		No	ClinGen TOPMed
CA5677027 rs754633596	386	T>I		No	ClinGen ExAC TOPMed gnomAD
rs1234763476 CA378049806	390	P>L		No	ClinGen TOPMed
rs1399126287 CA378049820	391	E>Q		No	ClinGen gnomAD
rs761290942 CA212418523	392	K>E		No	ClinGen TOPMed gnomAD
rs1381225897 CA378049865	393	A>V		No	ClinGen gnomAD
rs1449844983 CA378049873	394	V>L		No	ClinGen gnomAD
rs549845356 CA212418526	397	I>T		No	ClinGen TOPMed gnomAD
CA5677029 rs747651045	397	I>V		No	ClinGen ExAC TOPMed gnomAD
rs771999131 CA5677030	399	E>V		No	ClinGen ExAC gnomAD
rs746935721 CA5677032	400	H>D		No	ClinGen ExAC gnomAD
CA5677033 rs770778771	400	H>Q		No	ClinGen ExAC gnomAD
rs776464740 CA5677034	401	I>T		No	ClinGen ExAC gnomAD
rs200759996 CA5677036	403	D>N	Variant assessed as Somatic; 4.632e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA378049969 rs1256904405	404	A>T		No	ClinGen gnomAD
VAR_041080	405	Q>K	a lung adenocarcinoma sample; somatic mutation [UniProt]	No	UniProt
CA5677037 rs775439778	405	Q>R		No	ClinGen ExAC gnomAD
CA5677039 rs201455950	407	E>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs1375087115 CA378050003	409	M>T		No	ClinGen TOPMed
CA5677040 rs752182470	409	M>V		No	ClinGen ExAC gnomAD
CA378050010 rs1176081805	410	T>S		No	ClinGen TOPMed gnomAD
CA5677041 rs372744623	411	E>G		No	ClinGen ESP ExAC gnomAD
CA5677042 rs767816821	412	L>I		No	ClinGen ExAC gnomAD
CA378050030 rs1165446155	413	H>R		No	ClinGen TOPMed
CA378050026 rs1437804719	413	H>Y		No	ClinGen TOPMed
CA212418686 rs763590065	414	D>V		No	ClinGen Ensembl
CA378050063 rs1589537767	418	V>E		No	ClinGen Ensembl
CA378050060 rs1386007478	418	V>I		No	ClinGen TOPMed
CA5677044 rs754616078	420	K>E		No	ClinGen ExAC TOPMed gnomAD
CA5677045 rs559175633	420	K>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs559175633 CA212418731	420	K>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs199864933 CA5677047	422	N>T		No	ClinGen 1000Genomes ExAC gnomAD
CA378050112 rs1321364426	425	E>G		No	ClinGen gnomAD
rs777260154 CA5677048	427	R>K		No	ClinGen ExAC gnomAD
rs894037394 CA212418781	436	T>S		No	ClinGen gnomAD
CA378050191 TCGA novel rs1589537796	437	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA Ensembl
rs201945425 CA378050202	438	D>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs201945425 CA5677050	438	D>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1488708365 CA378050207	439	Q>*		No	ClinGen gnomAD
rs1199179749 CA378050227	442	V>M		No	ClinGen gnomAD
rs776323344 CA5677051	443	D>N		No	ClinGen ExAC TOPMed gnomAD
CA5677052 rs745611047	444	I>F		No	ClinGen ExAC gnomAD
rs377170080 CA212418829	445	N>S		No	ClinGen ESP TOPMed gnomAD
TCGA novel	446	S>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA378050270 rs1177487797	448	S>I		No	ClinGen gnomAD
rs1400186940 CA378050298	452	E>A		No	ClinGen gnomAD
CA378050295 rs1362087344	452	E>K		No	ClinGen gnomAD
rs1362087344 CA378050296	452	E>Q		No	ClinGen gnomAD
CA378050306 rs1318156086	453	N>T		No	ClinGen TOPMed
CA378050313 rs1302110062	454	N>D		No	ClinGen gnomAD
rs1564658181 CA378050318	454	N>K		No	ClinGen Ensembl
CA5677056 rs368834488	455	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA5677057 rs530649795	456	M>I		No	ClinGen 1000Genomes ExAC gnomAD
CA378050330 rs1220722171	456	M>V		No	ClinGen gnomAD
CA5677060 rs750754808	462	N>D		No	ClinGen ExAC gnomAD
CA5677061 rs756441080	462	N>S		No	ClinGen ExAC gnomAD
rs902680664 CA212418896	463	I>T		No	ClinGen TOPMed
rs1247704981 CA378050382	464	E>K		No	ClinGen Ensembl
CA5677062 rs145891003	465	H>R		No	ClinGen 1000Genomes ESP ExAC gnomAD
CA5677063 rs752412807	466	N>I		No	ClinGen ExAC gnomAD
CA378050401 rs752412807	466	N>S		No	ClinGen ExAC gnomAD
CA378050405 rs1370957650	467	L>V		No	ClinGen TOPMed
CA378050427 rs1192137229	470	E>G		No	ClinGen gnomAD
rs1321039430 CA378050435	471	E>G		No	ClinGen Ensembl
VAR_084656	472	E>del	found in a patient with global developmental delay; unknown pathological significance [UniProt]	No	UniProt
rs1405273659 CA378050448	473	K>E		No	ClinGen TOPMed
rs777286970 CA5677065	473	K>M		No	ClinGen ExAC
rs1417799369 CA378050454	474	D>N		No	ClinGen gnomAD
rs1364894150 CA378050468	475	Q>H		No	ClinGen TOPMed
rs181201567 CA5677067	476	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs181201567 CA5677066	476	E>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs781128406 CA5677068	477	K>E		No	ClinGen ExAC gnomAD
CA5677069 rs745782081	478	Q>R		No	ClinGen ExAC gnomAD
rs769699590 CA5677070	479	Q>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA5677073 rs749574763 CA5677072	480	M>I		No	ClinGen ExAC TOPMed gnomAD
rs546974649 CA5677071	480	M>V		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	482	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs774600106 CA5677075	485	L>F		No	ClinGen ExAC gnomAD
rs1160159655 CA378050637	490	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA5677076 rs374158573	493	D>G		No	ClinGen ESP ExAC gnomAD
CA5677077 rs772468874	494	T>S		No	ClinGen ExAC TOPMed gnomAD
rs1254654426 CA378050724	495	I>L		No	ClinGen gnomAD
CA378050746 rs1354564992	495	I>T		No	ClinGen gnomAD
rs1202056998 CA378050863	500	D>G		No	ClinGen TOPMed
CA212419021 rs1034301989	500	D>Y		No	ClinGen TOPMed
rs1245322444 CA378050903	502	V>A		No	ClinGen gnomAD
rs200940208 CA378050897	502	V>I		No	ClinGen 1000Genomes TOPMed
rs200940208 CA212419025	502	V>L		No	ClinGen 1000Genomes TOPMed
rs541130256 CA5677079	503	S>F		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	505	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1268837916 CA378050964	505	E>K		No	ClinGen TOPMed
CA212419032 COSM3665474 rs984030912	506	T>A	liver [Cosmic]	No	ClinGen cosmic curated Ensembl
CA378051133 rs1220841129	511	A>E		No	ClinGen TOPMed
CA5677080 rs761081685	512	N>D		No	ClinGen ExAC gnomAD
rs908500510 CA212419042	513	I>M		No	ClinGen gnomAD
rs766806550 CA378051180	514	Q>*		No	ClinGen ExAC TOPMed gnomAD
rs766806550 CA5677081	514	Q>E		No	ClinGen ExAC TOPMed gnomAD
rs754179738 CA5677082	514	Q>H		No	ClinGen ExAC gnomAD
rs762625584 CA5677083	518	S>G		No	ClinGen ExAC gnomAD
CA212419056 rs371702036	520	V>A		No	ClinGen ESP TOPMed
CA378051264 rs1168259105	520	V>I		No	ClinGen gnomAD
rs763670676 CA5677084	521	G>E		No	ClinGen ExAC TOPMed gnomAD
CA378051277 rs981974013	521	G>R		No	ClinGen Ensembl
rs981974013 CA212419060	521	G>W		No	ClinGen Ensembl
CA378051291 rs1344587560	522	L>F		No	ClinGen TOPMed
rs756851079 CA212419077	523	T>K		No	ClinGen ExAC TOPMed gnomAD
CA5677086 rs756851079	523	T>R		No	ClinGen ExAC TOPMed gnomAD
CA378051303 rs1411196143	523	T>S		No	ClinGen gnomAD
CA5677087 rs373232158	525	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA378051335 rs1289511972	525	E>G		No	ClinGen TOPMed
rs986933117 CA212419102	525	E>Q		No	ClinGen TOPMed
rs1463627077 CA378051343	526	D>G		No	ClinGen gnomAD
CA5677088 rs750418345	526	D>N		No	ClinGen ExAC gnomAD
rs937794113 CA212419112	529	E>G		No	ClinGen Ensembl
CA5677090 rs780021270	532	G>V		No	ClinGen ExAC gnomAD
rs1161954722 CA378051420	533	E>G		No	ClinGen gnomAD
COSM914459 rs199902178 CA212419134	535	D>N	Variant assessed as Somatic; 9.294e-05 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes NCI-TCGA gnomAD
rs765791580 CA5677093	536	K>E		No	ClinGen ExAC TOPMed gnomAD
CA5677094 rs149001506	536	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1328268178 CA378051506	540	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
TCGA novel	542	I>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA378051543 rs1306176866	543	S>G		No	ClinGen TOPMed gnomAD
TCGA novel	544	N>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1432432822 CA378051567	544	N>S		No	ClinGen TOPMed gnomAD
CA5677095 rs772263412	545	T>A		No	ClinGen ExAC gnomAD
CA5677096 rs773136236	546	S>G		No	ClinGen ExAC gnomAD
CA5677097 rs143783348	546	S>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA5677098 rs143783348	546	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs1589538120 CA378051617	548	V>A		No	ClinGen Ensembl
CA5677100 rs759835914	550	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1418335083 CA378051654	551	T>I		No	ClinGen TOPMed gnomAD
VAR_041081 rs805657 CA5677101	552	C>Y		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs553504804 CA212419235	555	A>T		No	ClinGen Ensembl
rs1172472626 CA378051721	556	D>E		No	ClinGen gnomAD
CA212419240 rs902782209	557	V>M		No	ClinGen Ensembl
rs751277320 CA5677102	558	A>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	559	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs761337519 CA5677103	561	V>G		No	ClinGen ExAC TOPMed gnomAD
CA378051787 rs767100772	562	D>H		No	ClinGen ExAC TOPMed gnomAD
rs767100772 CA5677104	562	D>N		No	ClinGen ExAC TOPMed gnomAD
rs1228905777 CA378051796	563	E>A		No	ClinGen gnomAD
CA5677105 rs749849309	563	E>K		No	ClinGen ExAC gnomAD
CA378051830 rs1589538174	567	E>D		No	ClinGen Ensembl
CA378051824 rs1448825627	567	E>Q		No	ClinGen gnomAD
rs756112041 CA5677106	568	D>A		No	ClinGen ExAC gnomAD
rs141030799 CA212419262	569	T>K		No	ClinGen ESP ExAC TOPMed gnomAD
COSM200440 rs141030799 CA5677107	569	T>M	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA378051856 rs1279180989	571	S>G		No	ClinGen TOPMed gnomAD
CA378051863 rs1381752293	571	S>I		No	ClinGen TOPMed
CA378051869 rs1589538206	571	S>R		No	ClinGen Ensembl
rs778848516 CA5677110	572	N>D		No	ClinGen ExAC TOPMed gnomAD
rs1338999115 CA378051878	572	N>S		No	ClinGen TOPMed
CA5677112 rs138561931	573	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA5677111 rs748443854	573	D>N		No	ClinGen ExAC TOPMed gnomAD
CA212419287 rs138561931	573	D>V		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	574	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1443703680 CA378051908	574	G>V		No	ClinGen gnomAD
rs1589538236 CA378051912	575	K>E		No	ClinGen Ensembl
TCGA novel	576	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA378051945 rs1589538242	577	V>G		No	ClinGen Ensembl
rs1210206997 CA378051939	577	V>M		No	ClinGen gnomAD
CA5677113 rs777931927	578	V>F		No	ClinGen ExAC gnomAD
COSM3806388 rs771440768 CA5677115	579	E>K	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA5677116 rs202126066	582	Q>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs563174883 CA5677118	582	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs534233043 CA5677117	582	Q>R		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	584	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs552889539 CA5677119	584	L>S		No	ClinGen 1000Genomes ExAC gnomAD
rs772788180 CA5677122	589	M>I		No	ClinGen ExAC gnomAD
rs1358887231 CA378052094	589	M>V		No	ClinGen gnomAD
rs755880104 CA212419327	592	P>L		No	ClinGen TOPMed gnomAD
CA378052148 rs1430544424	593	E>Q		No	ClinGen gnomAD
rs753896126 CA5677125	595	G>D		No	ClinGen ExAC TOPMed gnomAD
rs753896126 CA378052178	595	G>V		No	ClinGen ExAC TOPMed gnomAD
rs1253575364 CA378052191	597	T>P		No	ClinGen TOPMed
CA5677128 rs765173919	599	E>A		No	ClinGen ExAC gnomAD
CA5677130 rs572763541	602	I>M		No	ClinGen 1000Genomes ExAC gnomAD
rs752385454 CA5677129	602	I>V		No	ClinGen ExAC TOPMed
rs1339781752 CA378052270	603	K>E		No	ClinGen TOPMed
rs1218394379 CA378052273	603	K>T		No	ClinGen gnomAD
VAR_041082 CA5677131 rs190220654	604	E>Q	an ovarian serous carcinoma sample; somatic mutation [UniProt]	No	ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
rs757393380 CA378052304	607	E>G		No	ClinGen ExAC gnomAD
CA5677133 rs757393380	607	E>V		No	ClinGen ExAC gnomAD
rs1158099056 CA378052313	608	M>R		No	ClinGen gnomAD
rs1340178090 CA378052310	608	M>V		No	ClinGen TOPMed
rs1317244645 CA378052324	609	N>S		No	ClinGen TOPMed
CA378052378 rs1589538336	613	E>Q		No	ClinGen Ensembl
CA5677135 rs746420701	616	N>S		No	ClinGen ExAC TOPMed gnomAD
CA378052434 rs1382323483	617	K>*		No	ClinGen TOPMed
rs1393527009 CA378052473	619	Q>H		No	ClinGen TOPMed
CA378052501 rs1397635485	621	I>M		No	ClinGen TOPMed
CA378052491 rs1385462467	621	I>V		No	ClinGen gnomAD
TCGA novel	622	N>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1442166725 CA378052550	625	E>*		No	ClinGen gnomAD
CA5677139 rs199510176	626	N>S		No	ClinGen ExAC TOPMed gnomAD
rs771773062 CA5677140	628	M>I		No	ClinGen ExAC TOPMed gnomAD
CA378052589 rs1386618758	628	M>V		No	ClinGen TOPMed
CA378052610 COSM914460 rs1241672402	629	D>G	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA5677142 rs564855300	631	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5677144 rs776260664	632	E>G		No	ClinGen ExAC gnomAD
rs1589538396 CA378052661	633	E>K		No	ClinGen Ensembl
rs1181059934 CA378052684	634	P>R		No	ClinGen gnomAD
CA212419455 rs375427458	634	P>S		No	ClinGen Ensembl
rs990575117 CA212419465	635	G>R		No	ClinGen gnomAD
CA5677146 rs765227048	637	T>A		No	ClinGen ExAC gnomAD
CA5677147 rs575504049	637	T>S		No	ClinGen 1000Genomes ExAC gnomAD
CA5677150 rs751767478	639	G>D		No	ClinGen ExAC TOPMed gnomAD
CA378052790 rs1438231303	642	I>M		No	ClinGen TOPMed
rs757446564 CA5677152	645	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs781268587 CA5677153	646	S>G		No	ClinGen ExAC gnomAD
CA5677154 rs750458419	646	S>N		No	ClinGen ExAC gnomAD
CA378052846 rs1448373019	647	S>G		No	ClinGen gnomAD
rs780371715 CA5677156	648	T>A		No	ClinGen ExAC gnomAD
CA212419561 rs544458791	648	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA5677157 rs544458791	648	T>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs768972185 CA5677158	651	M>L		No	ClinGen ExAC TOPMed gnomAD
rs768972185 CA378052873	651	M>V		No	ClinGen ExAC TOPMed gnomAD
CA378052892 rs1292332523	653	V>A		No	ClinGen TOPMed
CA378052888 rs1356860833	653	V>I		No	ClinGen gnomAD
rs1456279248 CA378052898	654	R>I		No	ClinGen Ensembl
rs1564658609 CA378052904	655	S>N		No	ClinGen Ensembl
rs746709888 CA378052915	657	V>L		No	ClinGen ExAC TOPMed gnomAD
rs746709888 CA5677160	657	V>M		No	ClinGen ExAC TOPMed gnomAD
CA5677162 VAR_041083 rs56400929	658	A>G		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs770659535 CA5677161	658	A>P		No	ClinGen ExAC gnomAD
CA378052930 rs1589538493	659	D>E		No	ClinGen Ensembl
CA212419638 rs924174353	659	D>H		No	ClinGen Ensembl
CA378052939 rs1422106961	661	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1339423539 CA378052947	662	Q>E		No	ClinGen gnomAD
rs74154716 CA5677164	662	Q>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs759058756 CA5677163	662	Q>R		No	ClinGen ExAC gnomAD
rs1475291959 CA378052961	664	A>P		No	ClinGen gnomAD
rs1019359964 CA212419664	664	A>V		No	ClinGen TOPMed
rs1168907069 CA378052967	665	L>S		No	ClinGen gnomAD
VAR_051666 CA5677166 rs7071400	666	G>E		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA212419677 rs900661795	667	S>G		No	ClinGen Ensembl
TCGA novel	668	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1408328376 CA378052983	668	E>K		No	ClinGen TOPMed
TCGA novel	670	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs117017856 CA5677167	670	Q>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1336610647 CA378053005	671	D>H		No	ClinGen gnomAD
CA5677168 rs751303768	672	A>D		No	ClinGen ExAC gnomAD
rs375867060 CA378053012	672	A>P		No	ClinGen ESP TOPMed gnomAD
rs375867060 CA212419684	672	A>T		No	ClinGen ESP TOPMed gnomAD
CA378053023 rs1217805020	674	K>E		No	ClinGen gnomAD
rs1319959701 CA378053040	676	T>I		No	ClinGen TOPMed gnomAD
CA378053041 rs1319959701	676	T>S		No	ClinGen TOPMed gnomAD
CA378053044 rs1159980056	677	T>A		No	ClinGen TOPMed
rs532436926 CA5677171	677	T>I		No	ClinGen 1000Genomes ExAC gnomAD
CA378053051 rs1470303586	678	Q>R		No	ClinGen TOPMed
rs34326537 VAR_041084 CA5677173	679	I>T		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA378053056 rs1202178501	679	I>V		No	ClinGen gnomAD
CA378053071 rs1446589790	681	K>E		No	ClinGen gnomAD
rs1191990316 CA378053084	682	E>D		No	ClinGen gnomAD
rs754344562 CA5677174	683	K>I		No	ClinGen ExAC TOPMed gnomAD
rs35389916 VAR_041085 CA212419745	683	K>N		No	ClinGen UniProt ExAC dbSNP gnomAD
CA378053099 rs1481255755	685	E>K		No	ClinGen TOPMed
rs1464108863 CA378053115	687	P>A		No	ClinGen gnomAD
rs779168889 CA5677177	690	I>V		No	ClinGen ExAC gnomAD
CA5677178 rs748484340	692	K>E		No	ClinGen ExAC gnomAD
rs144105969 CA5677179	693	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	693	E>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA378053162 rs1342202971	694	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA5677180 rs3740469 VAR_041086	697	T>I		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1014951491 CA212419799	697	T>S		No	ClinGen TOPMed gnomAD
rs769225931 CA5677182	698	V>I		No	ClinGen ExAC gnomAD
CA5677186 rs768595595	702	P>L		No	ClinGen ExAC gnomAD
CA5677185 rs768595595	702	P>R		No	ClinGen ExAC gnomAD
rs761534756 CA5677187	706	Q>H		No	ClinGen ExAC gnomAD
CA378053241 rs1265899455	707	P>S		No	ClinGen gnomAD
rs767290046 CA5677188	708	V>L		No	ClinGen ExAC gnomAD
CA378053252 COSM1296900 rs1410467015	709	L>V	Variant assessed as Somatic; impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs1177647795 CA378053262	710	I>M		No	ClinGen gnomAD
CA378053268 rs1377741271	711	P>L		No	ClinGen gnomAD
rs1564658767 CA378053274	712	S>T		No	ClinGen Ensembl
CA5677190 rs760922838	713	I>V		No	ClinGen ExAC gnomAD
CA5677191 rs766421328	714	N>S		No	ClinGen ExAC TOPMed gnomAD
CA5677192 rs368294178	715	I>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA212419871 rs1035381336	715	I>V		No	ClinGen Ensembl
rs765774256 CA5677194	717	S>F		No	ClinGen ExAC TOPMed gnomAD
CA5677195 rs753242927	719	S>C		No	ClinGen ExAC TOPMed gnomAD
CA378053317 rs753242927	719	S>G		No	ClinGen ExAC TOPMed gnomAD
CA5677196 rs758899090	719	S>I		No	ClinGen ExAC gnomAD
rs778249650 CA5677197	723	K>R		No	ClinGen ExAC gnomAD
RCV001172042 rs1844281317	724	E>missing		No	ClinVar dbSNP
rs755740783 CA5677199	728	S>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA212419956 rs1045929615	732	T>A		No	ClinGen TOPMed gnomAD
CA378053410 rs1221325469	732	T>I		No	ClinGen gnomAD
rs372263493 CA5677201	735	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA378053446 rs1564658807	737	P>Q		No	ClinGen Ensembl
CA5677202 rs768487837	738	P>R		No	ClinGen ExAC gnomAD
rs1400722384 CA378053456	738	P>S		No	ClinGen TOPMed
rs746133982 CA5677203	739	E>G		No	ClinGen ExAC gnomAD
rs1455007674 CA378053527	743	P>A		No	ClinGen TOPMed gnomAD
rs1455007674 CA378053525	743	P>S		No	ClinGen TOPMed gnomAD
rs1470863769 CA378053535	744	K>E		No	ClinGen TOPMed
rs1438542556 CA378053539	744	K>R		No	ClinGen gnomAD
rs748078340 CA5677204	745	E>K		No	ClinGen ExAC gnomAD
rs759780288 CA5677205	746	N>D		No	ClinGen ExAC gnomAD
rs1429700551 CA378053583	747	D>E		No	ClinGen TOPMed
rs772972015 CA5677206	747	D>G		No	ClinGen ExAC gnomAD
rs142780049 CA5677208	748	N>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs142780049 CA5677207	748	N>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA378053592 rs1414919488	748	N>T		No	ClinGen gnomAD
CA212420000 rs1055815238	749	D>V		No	ClinGen TOPMed gnomAD
CA378053608 rs1294111959	750	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1399372426 CA378053618	752	T>I		No	ClinGen gnomAD
CA212420004 rs376822140	752	T>P		No	ClinGen Ensembl
CA378053624 rs967791467	753	G>D		No	ClinGen gnomAD
rs967791467 CA212420008	753	G>V		No	ClinGen gnomAD
rs776577711 CA5677209	755	T>A		No	ClinGen ExAC
CA378053635 rs1564658859	755	T>S		No	ClinGen Ensembl
CA5677210 rs759604017	756	A>P		No	ClinGen ExAC TOPMed gnomAD
CA5677211 rs201226890	756	A>V		No	ClinGen ExAC TOPMed gnomAD
CA5677212 rs753296341	758	T>A		No	ClinGen ExAC TOPMed gnomAD
rs923597790 CA212420030	758	T>I		No	ClinGen Ensembl
rs758948733 CA5677213	759	S>R		No	ClinGen ExAC TOPMed gnomAD
rs764573237 CA5677214	760	S>N		No	ClinGen ExAC gnomAD
CA378053689 rs1589538814	763	L>F		No	ClinGen Ensembl
CA378053721 rs1196239320	768	S>Y		No	ClinGen gnomAD
CA378053725 rs779694735	769	S>G		No	ClinGen ExAC gnomAD
CA5677217 rs779694735	769	S>R		No	ClinGen ExAC gnomAD
rs748876030 CA5677218	772	S>R		No	ClinGen ExAC gnomAD
rs1180980850 CA378053822	776	D>Y		No	ClinGen gnomAD
rs944405100 CA212420074	777	S>N		No	ClinGen TOPMed
RCV000963664 rs187213555 CA5677219 COSM3786315	779	S>L	pancreas [Cosmic]	No	ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs747421462 CA5677221	780	I>V		No	ClinGen ExAC TOPMed gnomAD
rs777576680 CA5677223	781	S>C		No	ClinGen ExAC gnomAD
CA5677222 rs771951785	781	S>P		No	ClinGen ExAC gnomAD
CA5677224 rs746751600	783	Q>*		No	ClinGen ExAC gnomAD
rs771073340 CA5677225	783	Q>R		No	ClinGen ExAC gnomAD
CA212421716 rs933269885	784	E>A		No	ClinGen TOPMed gnomAD
rs1411175531 CA378054841	786	R>K		No	ClinGen TOPMed
rs193020197 CA378054860	787	R>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5677238 rs193020197	787	R>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs376190522 CA5677239	788	Q>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs376190522 CA378054868	788	Q>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs1468209090 CA378054947	792	L>F		No	ClinGen TOPMed
rs780827480 CA5677244	799	I>M		No	ClinGen ExAC gnomAD
rs770099633 CA5677246	801	D>E		No	ClinGen ExAC TOPMed gnomAD
CA5677247 rs775714232	803	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1314107336 CA378055122	811	K>Q		No	ClinGen gnomAD
rs1313409459 CA378055136	812	I>L		No	ClinGen gnomAD
TCGA novel	814	T>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs763066659 CA5677248	816	S>G		No	ClinGen ExAC TOPMed gnomAD
rs1368368463 CA378055238	820	T>A		No	ClinGen TOPMed
rs140813954 CA5677249	821	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA378055285 rs570410170	823	L>F		No	ClinGen 1000Genomes ExAC gnomAD
CA378055291 rs762199744	824	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs577949306 CA212422071	828	R>C		No	ClinGen TOPMed
rs918980808 CA212422103	832	R>W		No	ClinGen TOPMed
rs1309945978 CA378056316	833	E>*		No	ClinGen TOPMed
CA378056358 rs1403945142	836	F>I		No	ClinGen gnomAD
CA378056378 rs1442976248	837	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA212422114 rs907542095	837	L>H		No	ClinGen TOPMed
rs753115414 CA212422138	839	K>R		No	ClinGen Ensembl
rs760974400 CA5677271	847	Q>H		No	ClinGen ExAC gnomAD
CA5677273 rs373027455 COSM3666684	849	N>S	liver [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA5677275 rs763682373	853	Q>K		No	ClinGen ExAC gnomAD
CA378056573 rs1291953296	855	Q>R		No	ClinGen gnomAD
rs376478203 CA212422228	856	R>G		No	ClinGen ESP TOPMed
CA5677276 rs138865314	856	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA212422264 rs763187071	861	R>Q		No	ClinGen gnomAD
CA212422238 rs948427568	861	R>W		No	ClinGen TOPMed gnomAD
CA5677277 rs757221518	862	R>C		No	ClinGen ExAC TOPMed gnomAD
rs757221518 CA378056614	862	R>G		No	ClinGen ExAC TOPMed gnomAD
CA5677279 rs750368752	862	R>H		No	ClinGen ExAC gnomAD
rs750368752 CA378056616	862	R>L		No	ClinGen ExAC gnomAD
CA5677278 rs757221518	862	R>S		No	ClinGen ExAC TOPMed gnomAD
CA378056618 rs1368113610	863	F>L		No	ClinGen gnomAD
CA378056643 rs1487804242	866	E>K		No	ClinGen gnomAD
rs138028690 CA212422296	867	M>V		No	ClinGen Ensembl
CA212422303 rs766510971	868	M>V		No	ClinGen gnomAD
rs1169246535 CA378056679	869	S>G		No	ClinGen TOPMed gnomAD
CA212424006 COSM3414655 rs754375904	872	R>*	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated Ensembl NCI-TCGA
CA378056703 rs1463081060	872	R>Q		No	ClinGen gnomAD
CA378056731 rs1401093907	876	Q>E		No	ClinGen gnomAD
TCGA novel	878	I>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5677296 rs750423809	881	L>V		No	ClinGen ExAC TOPMed gnomAD
rs756101328 CA5677297	884	Q>L		No	ClinGen ExAC gnomAD
rs1175335265 CA378056864	887	Q>E		No	ClinGen TOPMed
TCGA novel	888	T>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1399162428 CA378056890	889	I>V		No	ClinGen gnomAD
rs1433522132 CA378056900	890	E>K		No	ClinGen TOPMed
COSM914464 rs753650385 CA5677299	891	R>C	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA212424034 COSM914465 rs757714845	891	R>H	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
TCGA novel	892	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs752951740 CA5677302	899	R>C		No	ClinGen ExAC TOPMed gnomAD
rs758476738 CA5677303	899	R>H		No	ClinGen ExAC TOPMed gnomAD
CA378057027 rs758476738	899	R>L		No	ClinGen ExAC TOPMed gnomAD
rs777801234 CA5677304 COSM200441	901	R>*	large_intestine Variant assessed as Somatic; 4.62e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs747534945 CA5677305	901	R>Q		No	ClinGen ExAC gnomAD
rs139235638 CA5677306	903	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1429586846 CA378057098	905	K>R		No	ClinGen TOPMed gnomAD
CA378057108 rs1376625166	906	R>C		No	ClinGen gnomAD
COSM3414656 rs538854223 CA5677308	906	R>H	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs538854223 CA5677309	906	R>L		No	ClinGen ExAC TOPMed gnomAD
CA378057120 rs1375607753	907	I>L		No	ClinGen gnomAD
CA212424098 rs112147254	907	I>T		No	ClinGen Ensembl
rs761492417 CA5677311	908	K>R		No	ClinGen ExAC gnomAD
CA378057144 rs1217978335	909	G>R		No	ClinGen TOPMed
rs1218242027 CA378057156	910	E>Q		No	ClinGen Ensembl
CA212424109 rs926619518	911	Q>R		No	ClinGen gnomAD
rs1382753840 COSM1345630 CA378057191	912	E>G	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
CA212424124 rs753137364	913	K>E		No	ClinGen Ensembl
rs772802361 CA5677313	915	L>F		No	ClinGen ExAC gnomAD
CA378057242 rs1589541802	916	S>Y		No	ClinGen Ensembl
CA378057258 rs1358276562	917	K>N		No	ClinGen TOPMed
CA378057254 rs1398825118	917	K>R		No	ClinGen TOPMed
TCGA novel	919	Q>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs545397874 CA212424136	921	M>T		No	ClinGen 1000Genomes
rs760728271 CA5677314	922	L>P		No	ClinGen ExAC gnomAD
CA378057326 rs1292686080	923	K>M		No	ClinGen gnomAD
rs554070501 CA5677315	925	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA378057362 rs1214947775	928	E>G		No	ClinGen gnomAD
rs1458718251 CA378057416	929	V>I		No	ClinGen TOPMed
CA5677335 rs145383503	931	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA378057550 rs1589542951	931	N>S		No	ClinGen Ensembl
CA5677337 rs544495430	932	E>K		No	ClinGen 1000Genomes ExAC gnomAD
rs759487733 CA5677338	936	A>T		No	ClinGen ExAC gnomAD
TCGA novel	937	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs922120776 CA212425885	937	P>S		No	ClinGen Ensembl
rs1399723224 CA378057665	938	K>R		No	ClinGen TOPMed gnomAD
rs371469996 CA5677340	940	L>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA212425888 rs777631353	943	E>G		No	ClinGen Ensembl
CA378057757 rs1246408561	944	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1470139774 CA378057780	945	M>T		No	ClinGen TOPMed gnomAD
CA5677342 rs764243335	945	M>V		No	ClinGen ExAC gnomAD
CA5677343 COSM914467 rs373815490	947	R>C	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs141355740 CA212425932	947	R>H		No	ClinGen ESP gnomAD
CA378057825 rs1337373599	948	R>G		No	ClinGen gnomAD
CA5677344 rs757391425	948	R>K		No	ClinGen ExAC gnomAD
TCGA novel	952	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs767549709 CA5677345	952	L>H		No	ClinGen ExAC
CA378057945 rs1257969855	958	A>T		No	ClinGen gnomAD
CA378057980 rs1589546530	961	Q>K		No	ClinGen Ensembl
rs984262883 CA212431822	961	Q>R		No	ClinGen TOPMed
CA5677362 rs774592155	962	E>G		No	ClinGen ExAC TOPMed gnomAD
CA5677363 rs761998475	963	F>L		No	ClinGen ExAC TOPMed gnomAD
CA5677364 rs558796468	964	V>F		No	ClinGen 1000Genomes ExAC gnomAD
CA212431833 rs909951252	966	K>R		No	ClinGen TOPMed gnomAD
rs1462874049 CA378058027	967	Q>R		No	ClinGen gnomAD
CA5677366 rs756586446	969	Q>*		No	ClinGen ExAC gnomAD
CA378058747 rs1347655569	973	G>D		No	ClinGen TOPMed
rs1275807592 CA378058771	974	S>F		No	ClinGen TOPMed
CA5677368 rs754291127	976	K>E		No	ClinGen ExAC TOPMed gnomAD
rs143790863 CA5677369	978	I>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA378058873 rs1280600397	979	I>T		No	ClinGen TOPMed
rs1589546595 CA378058862	979	I>V		No	ClinGen Ensembl
rs1433528933 CA378058880	980	Q>*		No	ClinGen TOPMed gnomAD
rs1433528933 CA378058883	980	Q>K		No	ClinGen TOPMed gnomAD
rs1344066043 CA378058903	981	Q>K		No	ClinGen TOPMed
CA378058967 rs1315850382	984	A>S		No	ClinGen TOPMed
CA378058985 rs1415815128	985	E>G		No	ClinGen TOPMed
CA378059027 rs1402386164	987	A>V		No	ClinGen TOPMed
CA5677372 rs746710061	989	I>T		No	ClinGen ExAC gnomAD
TCGA novel	990	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA378059166 rs1300875544	993	C>Y		No	ClinGen gnomAD
CA5677375 rs372778251	998	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1445014590 CA378059339	1001	M>T		No	ClinGen TOPMed gnomAD
CA5677376 rs769174381	1001	M>V		No	ClinGen ExAC gnomAD
rs993629758 CA212439192	1004	R>*		No	ClinGen Ensembl
COSM683458 CA5677392 rs756872081	1004	R>L	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA378059548 rs756872081	1004	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA378059640 rs1289730087	1007	A>V		No	ClinGen TOPMed
rs1243318781 CA378059655	1008	I>T		No	ClinGen TOPMed gnomAD
CA378059694 rs1276025787	1009	W>*		No	ClinGen Ensembl
CA378059791 rs1471393984	1014	R>*		No	ClinGen TOPMed gnomAD
rs1471393984 CA378059786	1014	R>G		No	ClinGen TOPMed gnomAD
rs575424335 CA5677394	1014	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs202174450 CA5677397	1017	Q>E		No	ClinGen 1000Genomes ExAC gnomAD
rs202174450 CA212439201	1017	Q>K		No	ClinGen 1000Genomes ExAC gnomAD
rs895816469 CA212439203	1017	Q>R		No	ClinGen Ensembl
rs779405826 CA5677398	1022	L>V		No	ClinGen ExAC gnomAD
rs1197858987 CA378060047	1024	K>E		No	ClinGen TOPMed
rs1478546916 CA378060089	1025	Q>R		No	ClinGen TOPMed
rs749242751 CA5677399	1029	D>N		No	ClinGen ExAC gnomAD
rs1444168498 CA378060177	1029	D>V		No	ClinGen gnomAD
rs1023226060 CA212439211	1033	M>L		No	ClinGen TOPMed gnomAD
CA5677401 rs765433073	1033	M>R		No	ClinGen ExAC gnomAD
rs765433073 CA5677400	1033	M>T		No	ClinGen ExAC gnomAD
rs1023226060 CA378060249	1033	M>V		No	ClinGen TOPMed gnomAD
rs1274900601 COSM1702971 CA378060338	1037	Q>*	Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs747883842 CA5677402	1039	L>H		No	ClinGen ExAC gnomAD
CA212439226 rs969185444	1041	R>C		No	ClinGen TOPMed
CA5677404 rs773554437	1041	R>H		No	ClinGen ExAC gnomAD
CA5677406 rs771092523	1043	E>K		No	ClinGen ExAC TOPMed gnomAD
CA378060643 rs1432682768	1046	T>A		No	ClinGen gnomAD
CA378060715 rs1293279332	1051	R>C		No	ClinGen gnomAD
CA5677428 rs373118126	1051	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs545873370 CA212439879	1053	N>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes NCI-TCGA gnomAD
rs776180316 CA5677429	1054	Q>H		No	ClinGen ExAC gnomAD
CA5677430 rs763343355	1057	I>T		No	ClinGen ExAC gnomAD
CA378060811 rs1213241363	1059	E>*		No	ClinGen gnomAD
TCGA novel	1059	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5677432 rs774536093	1063	R>G		No	ClinGen ExAC gnomAD
CA378060884 rs1441210849	1068	R>G		No	ClinGen TOPMed
TCGA novel	1069	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA378060919 rs1288094415	1073	K>R		No	ClinGen TOPMed gnomAD
CA378060925 rs1394141926	1074	I>F		No	ClinGen gnomAD
CA212439936 rs1054091201	1075	Q>H		No	ClinGen TOPMed
rs754552535 CA5677436	1076	R>C		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1076	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1175073739 CA378060949	1077	S>R		No	ClinGen gnomAD
TCGA novel	1078	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA378060962 rs1395468590	1079	A>G		No	ClinGen gnomAD
rs1589547463 CA378060979 RCV000986132	1082	R>*		No	ClinGen ClinVar Ensembl dbSNP
CA378060980 rs1163035629	1082	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs764699027 CA5677437	1083	M>L		No	ClinGen ExAC gnomAD
rs1589547471 CA378061086	1089	S>I		No	ClinGen Ensembl
rs752729193 CA5677438	1091	R>K		No	ClinGen ExAC TOPMed gnomAD
rs758220777 CA5677439	1092	I>F		No	ClinGen ExAC
CA5677441 rs746717541	1093	N>T		No	ClinGen ExAC
rs746055143 COSM1742448 CA5677444	1094	S>*	urinary_tract [Cosmic]	No	ClinGen cosmic curated ExAC
rs757102434 CA5677443	1094	S>P		No	ClinGen ExAC gnomAD
CA5677442 rs757102434	1094	S>T		No	ClinGen ExAC gnomAD
CA5677445 rs201228187	1095	T>P		No	ClinGen ExAC gnomAD
TCGA novel	1096	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1410809446 CA378061204	1097	T>A		No	ClinGen TOPMed
CA5677446 rs775659033	1098	P>S		No	ClinGen ExAC gnomAD
rs749830006 COSM914469 CA5677447	1102	R>C	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs768974431 CA5677448	1102	R>H		No	ClinGen ExAC TOPMed gnomAD
CA378061340 rs1564664266	1105	I>V		No	ClinGen Ensembl
CA378061937 rs1183985978	1109	A>P		No	ClinGen TOPMed
CA5677463 rs756360825	1111	Q>R		No	ClinGen ExAC gnomAD
rs1214998248 CA378061965	1113	E>G		No	ClinGen gnomAD
TCGA novel	1114	K>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA212440467 rs55914158	1115	R>S		No	ClinGen Ensembl
rs1175072729 CA378062019	1120	R>T		No	ClinGen gnomAD
CA5677467 rs774789682	1121	M>I		No	ClinGen ExAC gnomAD
rs55708299 CA5677466	1121	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs748660703 CA5677468	1122	A>S		No	ClinGen ExAC gnomAD
CA5677469 rs772478262	1122	A>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1125	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1002462829 CA212440499	1127	H>Q		No	ClinGen TOPMed gnomAD
rs147985366 CA5677470	1132	R>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA212440502 rs147985366	1132	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA378062128 rs1460678623	1134	L>V		No	ClinGen TOPMed gnomAD
rs769371688 CA5677472	1138	C>R		No	ClinGen ExAC gnomAD
CA378062264 rs1414544050	1141	N>S		No	ClinGen TOPMed gnomAD
COSM287217 rs775081236 CA5677473	1143	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA5677474 rs775081236	1143	R>G		No	ClinGen ExAC TOPMed gnomAD
rs539493701 CA5677475	1143	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA378062347 rs1564664532	1146	H>R		No	ClinGen Ensembl
rs1202012877 CA378062339	1146	H>Y		No	ClinGen gnomAD
CA212440553 rs370580979	1147	Q>R		No	ClinGen ESP TOPMed
rs775042878 CA5677490	1153	C>R		No	ClinGen ExAC gnomAD
rs1345244548 CA378062678	1155	L>V		No	ClinGen gnomAD
CA212441254 rs1009139323	1157	V>A		No	ClinGen TOPMed
CA5677492 rs201270634	1159	H>R		No	ClinGen ExAC gnomAD
rs138622989 CA5677491	1159	H>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs1018327773 CA378062866	1166	E>D		No	ClinGen gnomAD
CA378062850 rs1391060061	1166	E>K		No	ClinGen gnomAD
CA5677493 rs773867148	1167	L>S		No	ClinGen ExAC gnomAD
CA5677496 rs750370910	1168	D>E		No	ClinGen ExAC gnomAD
CA5677495 rs767503181	1168	D>G		No	ClinGen ExAC gnomAD
CA5677494 rs761846758	1168	D>N		No	ClinGen ExAC TOPMed gnomAD
rs199725906 CA5677497	1171	H>R		No	ClinGen ExAC TOPMed gnomAD
rs899820576 CA212441283	1172	S>G		No	ClinGen TOPMed
rs142839532 CA5677498	1173	Q>E		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	1176	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs147399386 CA5677500	1176	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs147399386 CA5677499	1176	K>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA212441306 rs955690838	1177	E>D		No	ClinGen TOPMed
rs1365224201 CA378063029	1178	W>*		No	ClinGen gnomAD
rs778894529 CA5677501	1180	E>K		No	ClinGen ExAC gnomAD
CA378063087 rs1349870346	1181	K>R		No	ClinGen TOPMed gnomAD
CA5677502 rs368550353	1183	R>S		No	ClinGen ESP ExAC gnomAD
CA378063141 rs1283529520	1185	R>W		No	ClinGen TOPMed gnomAD
CA378063167 rs1340214010	1186	K>I		No	ClinGen TOPMed
CA378063371 rs1168149727	1188	T>A		No	ClinGen TOPMed
CA378063381 rs1462525997	1190	E>K		No	ClinGen TOPMed
CA378063401 rs1413920626	1192	E>V		No	ClinGen TOPMed
CA378063417 rs1452441197	1194	A>V		No	ClinGen gnomAD
CA5677518 rs765444995	1195	R>S		No	ClinGen ExAC gnomAD
rs1471772568 CA378063440	1198	Q>*		No	ClinGen TOPMed
TCGA novel	1199	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1201	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA212443712 rs1023059773	1202	V>I		No	ClinGen TOPMed gnomAD
rs1023059773 CA378063471	1202	V>L		No	ClinGen TOPMed gnomAD
TCGA novel	1203	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs764134895 CA5677521	1206	M>V		No	ClinGen ExAC gnomAD
CA378063508 rs1417757322	1207	T>A		No	ClinGen gnomAD
CA212443731 rs61861275	1208	G>R		No	ClinGen Ensembl
rs1162128183 CA378063531	1210	S>F		No	ClinGen TOPMed gnomAD
TCGA novel	1217	T>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1405615985 CA378063598	1220	R>Q		No	ClinGen gnomAD
CA378063597 rs1290681260	1220	R>W		No	ClinGen TOPMed
rs984191524 CA212443745	1221	I>V		No	ClinGen TOPMed
CA5677526 rs746185355	1226	P>L		No	ClinGen ExAC gnomAD
rs1411420476 CA378063647	1227	I>T		No	ClinGen gnomAD
rs756420913 CA5677527	1228	P>S		No	ClinGen ExAC gnomAD
rs1354707441 CA378063671	1231	H>Y		No	ClinGen gnomAD
rs771759095 CA5677530	1234	G>*		No	ClinGen ExAC TOPMed gnomAD
rs771759095 CA378063689	1234	G>R		No	ClinGen ExAC TOPMed gnomAD

No associated diseases with Q9H2G2

4 regional properties for Q9H2G2

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

Functions

		Description
EC Number	2.7.11.1	Protein-serine/threonine kinases
Subcellular Localization	Cytoplasm
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

5 GO annotations of cellular component

Name	Definition
cell leading edge	The area of a motile cell closest to the direction of movement.
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.
extracellular exosome	A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm.
perinuclear region of cytoplasm	Cytoplasm situated near, or occurring around, the nucleus.

6 GO annotations of molecular function

Name	Definition
ATP binding	Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
cadherin binding	Binding to cadherin, a type I membrane protein involved in cell adhesion.
identical protein binding	Binding to an identical protein or proteins.
protein homodimerization activity	Binding to an identical protein to form a homodimer.
protein serine kinase activity	Catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate.
protein serine/threonine kinase activity	Catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate, and ATP + protein threonine = ADP + protein threonine phosphate.

7 GO annotations of biological process

Name	Definition
apoptotic process	A programmed cell death process which begins when a cell receives an internal (e.g. DNA damage) or external signal (e.g. an extracellular death ligand), and proceeds through a series of biochemical events (signaling pathway phase) which trigger an execution phase. The execution phase is the last step of an apoptotic process, and is typically characterized by rounding-up of the cell, retraction of pseudopodes, reduction of cellular volume (pyknosis), chromatin condensation, nuclear fragmentation (karyorrhexis), plasma membrane blebbing and fragmentation of the cell into apoptotic bodies. When the execution phase is completed, the cell has died.
cytoplasmic microtubule organization	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of structures formed of microtubules and associated proteins in the cytoplasm of a cell.
protein autophosphorylation	The phosphorylation by a protein of one or more of its own amino acid residues (cis-autophosphorylation), or residues on an identical protein (trans-autophosphorylation).
protein phosphorylation	The process of introducing a phosphate group on to a protein.
regulation of apoptotic process	Any process that modulates the occurrence or rate of cell death by apoptotic process.
regulation of cell migration	Any process that modulates the frequency, rate or extent of cell migration.
regulation of focal adhesion assembly	Any process that modulates the frequency, rate or extent of focal adhesion formation, the establishment and maturation of focal adhesions.

15 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
E1BK52	STK10	Serine/threonine-protein kinase 10	Bos taurus (Bovine)	PR
O94804	STK10	Serine/threonine-protein kinase 10	Homo sapiens (Human)	PR
O95747	OXSR1	Serine/threonine-protein kinase OSR1	Homo sapiens (Human)	PR
Q9UEW8	STK39	STE20/SPS1-related proline-alanine-rich protein kinase	Homo sapiens (Human)	PR
Q9Y4K4	MAP4K5	Mitogen-activated protein kinase kinase kinase kinase 5	Homo sapiens (Human)	PR
Q92918	MAP4K1	Mitogen-activated protein kinase kinase kinase kinase 1	Homo sapiens (Human)	EV
Q12851	MAP4K2	Mitogen-activated protein kinase kinase kinase kinase 2	Homo sapiens (Human)	EV
Q8IVH8	MAP4K3	Mitogen-activated protein kinase kinase kinase kinase 3	Homo sapiens (Human)	SS
Q9P289	STK26	Serine/threonine-protein kinase 26	Homo sapiens (Human)	PR
Q9Y6E0	STK24	Serine/threonine-protein kinase 24	Homo sapiens (Human)	PR
O00506	STK25	Serine/threonine-protein kinase 25	Homo sapiens (Human)	PR
O55098	Stk10	Serine/threonine-protein kinase 10	Mus musculus (Mouse)	PR
O54988	Slk	STE20-like serine/threonine-protein kinase	Mus musculus (Mouse)	PR
E9PTG8	Stk10	Serine/threonine-protein kinase 10	Rattus norvegicus (Rat)	PR
Q0IHQ8	stk10	Serine/threonine-protein kinase 10	Xenopus tropicalis (Western clawed frog) (Silurana tropicalis)	PR

10	20	30	40	50	60
MSFFNFRKIF	KLGSEKKKKQ	YEHVKRDLNP	EDFWEIIGEL	GDGAFGKVYK	AQNKETSVLA
70	80	90	100	110	120
AAKVIDTKSE	EELEDYMVEI	DILASCDHPN	IVKLLDAFYY	ENNLWILIEF	CAGGAVDAVM
130	140	150	160	170	180
LELERPLTES	QIQVVCKQTL	DALNYLHDNK	IIHRDLKAGN	ILFTLDGDIK	LADFGVSAKN
190	200	210	220	230	240
TRTIQRRDSF	IGTPYWMAPE	VVMCETSKDR	PYDYKADVWS	LGITLIEMAE	IEPPHHELNP
250	260	270	280	290	300
MRVLLKIAKS	EPPTLAQPSR	WSSNFKDFLK	KCLEKNVDAR	WTTSQLLQHP	FVTVDSNKPI
310	320	330	340	350	360
RELIAEAKAE	VTEEVEDGKE	EDEEEETENS	LPIPASKRAS	SDLSIASSEE	DKLSQNACIL
370	380	390	400	410	420
ESVSEKTERS	NSEDKLNSKI	LNEKPTTDEP	EKAVEDINEH	ITDAQLEAMT	ELHDRTAVIK
430	440	450	460	470	480
ENEREKRPKL	ENLPDTEDQE	TVDINSVSEG	KENNIMITLE	TNIEHNLKSE	EEKDQEKQQM
490	500	510	520	530	540
FENKLIKSEE	IKDTILQTVD	LVSQETGEKE	ANIQAVDSEV	GLTKEDTQEK	LGEDDKTQKD
550	560	570	580	590	600
VISNTSDVIG	TCEAADVAQK	VDEDSAEDTQ	SNDGKEVVEV	GQKLINKPMV	GPEAGGTKEV
610	620	630	640	650	660
PIKEIVEMNE	IEEGKNKEQA	INSSENIMDI	NEEPGTTEGE	EITESSSTEE	MEVRSVVADT
670	680	690	700	710	720
DQKALGSEVQ	DASKVTTQID	KEKKEIPVSI	KKEPEVTVVS	QPTEPQPVLI	PSININSDSG
730	740	750	760	770	780
ENKEEIGSLS	KTETILPPES	ENPKENDNDS	GTGSTADTSS	IDLNLSISSF	LSKTKDSGSI
790	800	810	820	830	840
SLQETRRQKK	TLKKTRKFIV	DGVEVSVTTS	KIVTDSDSKT	EELRFLRRQE	LRELRFLQKE
850	860	870	880	890	900
EQRAQQQLNS	KLQQQREQIF	RRFEQEMMSK	KRQYDQEIEN	LEKQQKQTIE	RLEQEHTNRL
910	920	930	940	950	960
RDEAKRIKGE	QEKELSKFQN	MLKNRKKEVI	NEVEKAPKEL	RKELMKRRKE	ELAQSQHAQE
970	980	990	1000	1010	1020
QEFVQKQQQE	LDGSLKKIIQ	QQKAELANIE	RECLNNKQQL	MRAREAAIWE	LEERHLQEKH
1030	1040	1050	1060	1070	1080
QLLKQQLKDQ	YFMQRHQLLK	RHEKETEQMQ	RYNQRLIEEL	KNRQTQERAR	LPKIQRSEAK
1090	1100	1110	1120	1130	1140
TRMAMFKKSL	RINSTATPDQ	DRDKIKQFAA	QEEKRQKNER	MAQHQKHENQ	MRDLQLQCEA
1150	1160	1170	1180	1190	1200
NVRELHQLQN	EKCHLLVEHE	TQKLKELDEE	HSQELKEWRE	KLRPRKKTLE	EEFARKLQEQ
1210	1220	1230
EVFFKMTGES	ECLNPSTQSR	ISKFYPIPSL	HSTGS