AiPD: Autoinhibited Protein Database

Q7Z2Y5

Gene name	NRK
Protein name	Nik-related protein kinase
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:203447
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)

987-1065 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

987-1065 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

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

Autoinhibited structure

Activated structure

1 structures for Q7Z2Y5

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q7Z2Y5-F1	Predicted				AlphaFoldDB

1005 variants for Q7Z2Y5

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA10481485 rs200616257 RCV002537554 RCV000902271	1385	V>A	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1249573015 CA413869696	2	A>E		No	ClinGen gnomAD
rs769819245 CA10480799	5	G>E		No	ClinGen ExAC TOPMed gnomAD
rs779383241 CA10480800	7	W>*		No	ClinGen ExAC gnomAD
TCGA novel	9	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10480802 rs374698660	10	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA413869770 rs1481585360	13	T>M		No	ClinGen TOPMed gnomAD
CA413869769 rs1481585360	13	T>R		No	ClinGen TOPMed gnomAD
rs761509991 CA10480804	17	H>P		No	ClinGen ExAC gnomAD
rs761509991 CA413869794	17	H>R		No	ClinGen ExAC gnomAD
CA10480806 rs773662779	19	P>L		No	ClinGen ExAC gnomAD
rs367619280 CA10480805	19	P>S		No	ClinGen ESP ExAC gnomAD
rs1347789956 CA413869842	23	G>E		No	ClinGen TOPMed
CA413869874 rs1382818572	28	D>G		No	ClinGen TOPMed
rs780829493 CA10480816	28	D>N		No	ClinGen ExAC TOPMed gnomAD
rs1344593490 CA413869896	31	I>T		No	ClinGen gnomAD
TCGA novel	32	G>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	32	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA413869904 rs1602589605	32	G>V		No	ClinGen Ensembl
TCGA novel	38	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	42	G>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1403775845 CA413802992	46	K>R		No	ClinGen gnomAD
CA333036500 rs868066685	48	G>C		No	ClinGen gnomAD
CA413803041 rs868066685	48	G>R		No	ClinGen gnomAD
CA333036502 rs969621748	51	T>K		No	ClinGen Ensembl
rs1415765656 CA413803279	56	M>T		No	ClinGen gnomAD
CA413803323 rs761109913	57	N>K		No	ClinGen ExAC TOPMed gnomAD
CA413803363 rs1439579414	59	R>H		No	ClinGen TOPMed gnomAD
rs866116590 CA333036511	59	R>S		No	ClinGen Ensembl
CA413803718 rs1427188031	66	I>R		No	ClinGen gnomAD
rs1176988972 CA413803783	69	R>Q		No	ClinGen TOPMed gnomAD
CA413803900 rs1210744027	74	K>T		No	ClinGen TOPMed
TCGA novel	77	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA413804048 rs1341111724	79	V>I		No	ClinGen TOPMed
CA413804102 rs1407667614	80	G>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs267606298 CA333039608	85	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA10480843 rs777497915	86	E>V		No	ClinGen ExAC gnomAD
CA413806158 rs1474166462	87	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	88	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA413806266 rs1166798144	89	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA413806274 rs1489678094	89	D>V		No	ClinGen TOPMed
CA413806269 rs1166798144	89	D>Y		No	ClinGen TOPMed gnomAD
TCGA novel	93	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA413806412 rs1396835584	94	L>F		No	ClinGen gnomAD
rs1411310403 CA413806592	100	Y>N		No	ClinGen gnomAD
rs1245457235 CA413806714	103	H>R		No	ClinGen gnomAD
CA413806726 rs1365375750	104	K>E		No	ClinGen gnomAD
TCGA novel	106	I>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10480845 rs746701496	106	I>T		No	ClinGen ExAC TOPMed gnomAD
CA413806907 rs1216203447	108	S>F		No	ClinGen TOPMed
CA413807026 rs1305539961	112	A>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	112	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA413807154 rs1226863677	117	S>N		No	ClinGen gnomAD
rs778475176 CA333039630	118	P>L		No	ClinGen TOPMed gnomAD
CA10480846 rs771325267	118	P>T		No	ClinGen ExAC
rs746356473 CA10480848	119	P>H		No	ClinGen ExAC gnomAD
rs61998202 CA10480847	119	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA413807235 rs1490140033	120	G>A		No	ClinGen gnomAD
CA413807248 rs1222917184	121	Q>R		No	ClinGen gnomAD
CA10480850 COSM1490293 rs775671567	122	R>Q	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA413807276 rs1337330856	122	R>W		No	ClinGen TOPMed gnomAD
CA413807301 rs1373154746	123	H>Y		No	ClinGen TOPMed gnomAD
rs774619313 CA10480853	125	L>F		No	ClinGen ExAC gnomAD
rs1192553606 CA413807403	126	W>*		No	ClinGen Ensembl
CA413807418 rs1384196203	126	W>C		No	ClinGen gnomAD
rs756910960 CA10480863	127	M>I		No	ClinGen ExAC gnomAD
CA10480862 rs746645164	127	M>V		No	ClinGen ExAC gnomAD
CA333040919 rs868298262	133	A>T		No	ClinGen Ensembl
rs1465902334 CA413808737	134	A>G		No	ClinGen gnomAD
CA10480864 rs781650157	134	A>T		No	ClinGen ExAC TOPMed gnomAD
CA413808733 rs1465902334	134	A>V		No	ClinGen gnomAD
rs1569303551 CA413808772	136	S>L		No	ClinGen Ensembl
rs1602646805 CA413808896	143	M>L		No	ClinGen Ensembl
rs1242222272 CA413809009	147	Q>H		No	ClinGen gnomAD
TCGA novel	151	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs377383056 CA10480867	154	I>T		No	ClinGen ESP ExAC gnomAD
CA413810671 rs1306350591	164	G>A		No	ClinGen TOPMed gnomAD
CA413810762 rs1489976753	167	H>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs773413744 CA10480900	170	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1489746817 CA413810832	170	A>V		No	ClinGen gnomAD
rs760958200 CA10480901	172	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA333041264 rs868566889	175	H>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA413810972 rs1261166799	176	R>L		No	ClinGen gnomAD
CA413810989 rs1429147233	177	D>G		No	ClinGen gnomAD
TCGA novel	186	T>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	186	T>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA413811305 rs1170769583	189	A>G		No	ClinGen gnomAD
rs777450234 CA333041818	198	V>M		No	ClinGen Ensembl
CA413812563 rs1201113452	200	A>S		No	ClinGen TOPMed
CA413812551 rs1201113452	200	A>T		No	ClinGen TOPMed
rs751746419 CA333041821	201	Q>H		No	ClinGen Ensembl
CA10480912 rs754172714	203	S>C		No	ClinGen ExAC TOPMed gnomAD
rs1348427560 CA413812701	203	S>T		No	ClinGen TOPMed
TCGA novel	208	R>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA413813003 rs1184365984	210	N>S		No	ClinGen TOPMed gnomAD
CA10480913 rs755468613	212	F>I		No	ClinGen ExAC gnomAD
CA10480914 rs201914052	213	I>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10480915 rs748164527	214	G>W		No	ClinGen ExAC gnomAD
rs1457375662 CA413813196	218	W>R		No	ClinGen gnomAD
TCGA novel	221	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	223	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1379867374 CA413813457	225	D>H		No	ClinGen gnomAD
CA413813480 rs1451469234	225	D>V		No	ClinGen gnomAD
rs959576574 CA333041836	230	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA10480918 rs763824052	232	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10480919 rs771168827	232	R>H		No	ClinGen ExAC gnomAD
CA413813785 rs1211060699	234	Y>C		No	ClinGen gnomAD
TCGA novel	237	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	239	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	242	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10480929 rs754160086	247	A>T		No	ClinGen ExAC gnomAD
CA10480930 rs755308278	247	A>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	249	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10480941 rs768330552	257	L>P		No	ClinGen ExAC
TCGA novel	264	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA413815553 rs879071844	268	V>F		No	ClinGen TOPMed
CA333043138 rs879071844	268	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs748077231 CA10480944	271	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs748999857 CA333043141	271	R>W		No	ClinGen gnomAD
CA413815874 rs1342659479	277	V>I		No	ClinGen gnomAD
TCGA novel	281	G>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs377064886 CA10480946 COSM456407	281	G>R	breast [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA413816393 rs1348989370	283	S>P		No	ClinGen TOPMed
CA10480962 rs746045211	284	R>C		No	ClinGen ExAC gnomAD
rs1450962402 CA413816443	284	R>H		No	ClinGen gnomAD
rs1450962402 CA413816448	284	R>P		No	ClinGen gnomAD
TCGA novel	285	K>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1181300850 CA413816513	286	F>L		No	ClinGen gnomAD
rs756406211 CA10480963	292	K>E		No	ClinGen ExAC gnomAD
CA413816906 rs1458689338	292	K>R		No	ClinGen TOPMed gnomAD
CA10480965 COSM3964519 rs374299805	294	T>M	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA gnomAD
TCGA novel	297	N>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1321315147	297	N>I	Variant assessed as Somatic; 6.762e-05 impact. [NCI-TCGA]	No	NCI-TCGA
rs1367358193 CA413817145	298	F>L		No	ClinGen TOPMed gnomAD
CA333043352 rs868067960	300	F>S		No	ClinGen Ensembl
CA413817194 rs1450758963	301	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA413817213 rs1314568545	301	R>H		No	ClinGen gnomAD
TCGA novel	302	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA413817309 rs1456333688	305	A>E		No	ClinGen TOPMed
rs1245211373 CA413817567	311	P>S		No	ClinGen gnomAD
CA10480969 rs770319299	314	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs747023598 CA333043359 COSM1112396	314	R>W	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs776256892 CA10480970	317	K>N		No	ClinGen ExAC
TCGA novel	317	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1014902173 CA333043366	318	N>S		No	ClinGen TOPMed
rs1268215838 CA413818007	321	H>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1183938723 CA413818035	322	V>A		No	ClinGen TOPMed
CA10480972 rs759066418	324	E>K		No	ClinGen ExAC gnomAD
rs769521531 CA10480973	325	S>*		No	ClinGen ExAC gnomAD
rs1190032459 CA413818193	326	L>F		No	ClinGen gnomAD
CA413818157 rs1424827373	326	L>S		No	ClinGen gnomAD
rs764791844 CA10480975	327	T>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel rs764502889 CA413818234	328	R>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen ExAC TOPMed gnomAD
CA413818259 rs1266607983	329	H>R		No	ClinGen TOPMed
CA413818308 rs1160497911	331	T>S		No	ClinGen gnomAD
CA413818383 rs865907370	332	G>A		No	ClinGen gnomAD
CA333043383 rs865907370	332	G>E		No	ClinGen gnomAD
rs1468275732 CA413818415	334	I>V		No	ClinGen gnomAD
rs762421606 CA10480978	335	K>T		No	ClinGen ExAC gnomAD
rs970207559 CA333043389	336	K>R		No	ClinGen TOPMed
rs1336364406	337	R>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA413818582 rs1396452519	337	R>K		No	ClinGen gnomAD
CA413818626 rs1335955533	338	Q>K		No	ClinGen gnomAD
rs1227742623 CA413818686	339	K>I		No	ClinGen gnomAD
rs769380036 CA10480992	341	G>A		No	ClinGen ExAC gnomAD
CA413819285 rs1299996405	342	I>T		No	ClinGen gnomAD
TCGA novel	347	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1312219222 CA413819603	350	E>V		No	ClinGen gnomAD
TCGA novel	351	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1234983715 CA413819646	352	I>V		No	ClinGen gnomAD
rs373693635 CA413819710	354	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA10480993 rs373693635	354	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA333043736 rs1044772267	355	Q>E		No	ClinGen TOPMed
CA10480994 VAR_040951 rs55862725	355	Q>H		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1254668758 CA413819813	357	T>S		No	ClinGen gnomAD
CA413819837 rs209373	358	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
VAR_033908 rs209373 CA10480995	358	V>M		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
TCGA novel	359	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA413796861 rs1277223785	364	P>A		No	ClinGen gnomAD
CA10481001 rs372374321	364	P>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA413796900 rs1221508596	366	C>R		No	ClinGen gnomAD
CA10481002 rs754105875	366	C>Y		No	ClinGen ExAC
rs755288274 CA10481003	367	T>N		No	ClinGen ExAC gnomAD
CA10481005 rs751406404	369	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1233173350 CA413797134	375	T>A		No	ClinGen TOPMed
CA333012403 rs6622019	383	R>T		No	ClinGen Ensembl
rs755617989 CA10481009	384	V>I		No	ClinGen ExAC gnomAD
CA413797370 rs1441258469	386	H>N		No	ClinGen TOPMed gnomAD
rs1328508612	388	E>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA413797436 rs1350391117	389	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA413797434 rs1164041409	389	P>S		No	ClinGen TOPMed gnomAD
CA413797453 rs1296217655	390	S>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA10481010 rs779580689	392	P>S		No	ClinGen ExAC TOPMed gnomAD
rs779580689 CA413797474	392	P>T		No	ClinGen ExAC TOPMed gnomAD
rs1317977439 CA413797505	394	W>*		No	ClinGen gnomAD
CA413797520 rs1299300787	396	P>L		No	ClinGen TOPMed gnomAD
CA333012407 rs917736775	396	P>S		No	ClinGen TOPMed gnomAD
CA333012409 rs867932920	397	D>N		No	ClinGen Ensembl
rs768316899 CA10481012	398	R>*		No	ClinGen ExAC
rs1228077451 CA413797533	398	R>P		No	ClinGen TOPMed gnomAD
rs1228077451 CA413797532	398	R>Q		No	ClinGen TOPMed gnomAD
rs781624302 CA10481013	401	P>T		No	ClinGen 1000Genomes ExAC gnomAD
rs1172126649 CA413797587	403	V>I		No	ClinGen TOPMed
CA333012410 rs969570393	405	A>V		No	ClinGen TOPMed gnomAD
CA413797623 rs1393238893	406	L>F		No	ClinGen TOPMed
TCGA novel	407	Q>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA413797657 rs1411892665	408	Q>K		No	ClinGen gnomAD
CA10481018 rs773752651	412	A>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs200574475 CA10481017	412	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10481016 rs200574475	412	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA413797811 rs1468768107	413	A>S		No	ClinGen TOPMed
rs372847875 CA333012416	413	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA TOPMed
CA333012420 rs763380530	414	R>S		No	ClinGen gnomAD
rs1602661418 CA413797853	415	V>I		No	ClinGen Ensembl
rs1465363655 CA413797873	416	F>V		No	ClinGen gnomAD
rs756370054 CA10481020	417	M>T		No	ClinGen 1000Genomes ExAC gnomAD
CA413797937 rs1241491253	419	L>P		No	ClinGen gnomAD
CA333012423 rs957580902	423	D>N		No	ClinGen Ensembl
VAR_040952	424	S>C	a breast infiltrating ductal carcinoma sample; somatic mutation [UniProt]	No	UniProt
CA413798000 rs1471724614	424	S>N		No	ClinGen TOPMed gnomAD
CA413798010 rs1284499561	425	A>T		No	ClinGen TOPMed
VAR_040953 rs55635933 CA10481022	426	P>A		No	ClinGen UniProt 1000Genomes TOPMed dbSNP gnomAD
rs55635933 CA10481023	426	P>S		No	ClinGen 1000Genomes TOPMed gnomAD
CA10481025 rs766533231	427	K>E		No	ClinGen ExAC gnomAD
rs776875116 CA10481026	428	P>T		No	ClinGen ExAC gnomAD
CA333012430 rs12856672	429	L>I		No	ClinGen Ensembl
TCGA novel	432	Q>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA333012432 rs770055305	432	Q>K		No	ClinGen Ensembl
CA10481027 rs375921033	432	Q>R		No	ClinGen 1000Genomes ESP ExAC gnomAD
CA10481028 rs765564869	433	A>S		No	ClinGen ExAC gnomAD
rs765564869 CA10481029	433	A>T		No	ClinGen ExAC gnomAD
rs757061893 CA10481030	435	A>S		No	ClinGen ExAC gnomAD
rs1322184633 CA413798232	435	A>V		No	ClinGen gnomAD
CA10481031 rs767283338	437	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs144119374 RCV000901861 CA10481032	438	R>Q		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1602661600 CA413798405	443	A>P		No	ClinGen Ensembl
rs748826488 CA10481035	444	R>Q		No	ClinGen ExAC gnomAD
rs1268732003 CA413798420	444	R>W		No	ClinGen TOPMed
CA10481036 rs754558243	446	F>C		No	ClinGen ExAC gnomAD
rs1346084872 CA413798502	446	F>L		No	ClinGen TOPMed
rs1329969888 CA413798542	448	P>T		No	ClinGen TOPMed gnomAD
CA333012442 rs916891843	450	Q>H		No	ClinGen Ensembl
rs747808806 CA10481038	451	A>S		No	ClinGen ExAC gnomAD
rs1292597311 CA413798649	453	V>M		No	ClinGen gnomAD
TCGA novel	456	K>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA413798730 rs209372	456	K>N		No	ClinGen 1000Genomes ESP ExAC gnomAD
CA10481040 rs773486400	457	A>T		No	ClinGen ExAC gnomAD
rs747493092 CA10481041	457	A>V		No	ClinGen ExAC gnomAD
TCGA novel	461	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA333012449 rs771599711 CA10481042	464	Q>H		No	ClinGen ExAC TOPMed
rs776788674 CA413798981	465	I>M		No	ClinGen ExAC gnomAD
TCGA novel	465	I>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs759705995 CA10481044	467	A>E		No	ClinGen ExAC gnomAD
CA10481045 rs765291622	469	P>A		No	ClinGen ExAC TOPMed gnomAD
CA10481046 rs375984803	469	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs375984803 CA413799086	469	P>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA10481048 rs767323819	470	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA10481049 rs763061332	470	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA413799121 rs1209673043	471	L>P		No	ClinGen TOPMed
CA10481050 rs756004510	472	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA413799134 rs1602661750	472	R>W		No	ClinGen Ensembl
TCGA novel	473	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	474	A>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1281764474 CA413799183	474	A>V		No	ClinGen TOPMed
rs1602661769 CA413799192	475	A>G		No	ClinGen Ensembl
CA413799212 rs766308277	476	R>S		No	ClinGen ExAC gnomAD
rs753287534 CA10481052	478	L>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs771583983 CA10481053	479	M>V		No	ClinGen 1000Genomes ExAC gnomAD
rs1307484850 CA413799436	483	A>V		No	ClinGen TOPMed
CA333012464 rs1039838306	486	R>G		No	ClinGen TOPMed
rs912626179 CA333012466	487	A>V		No	ClinGen Ensembl
TCGA novel	488	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs758032990 CA10481056	492	Q>R		No	ClinGen ExAC gnomAD
CA413799716 rs1280974390	493	V>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs747386394 CA10481058	498	S>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs764190087 CA333012472	504	Q>R		No	ClinGen gnomAD
rs771510051 CA10481059	505	T>S		No	ClinGen ExAC gnomAD
rs1244498550 CA413800011	506	Q>H		No	ClinGen gnomAD
TCGA novel	508	S>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1191452129 CA413800112	511	Q>*		No	ClinGen gnomAD
CA10481062 rs769886591	512	D>G		No	ClinGen ExAC gnomAD
CA333012486 rs866712975	512	D>Y		No	ClinGen Ensembl
CA10481063 rs200137432	513	L>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs763188189 CA10481064	516	V>L		No	ClinGen ExAC gnomAD
CA413800260 rs1569308410	518	E>D		No	ClinGen Ensembl
rs1313496170 CA413800294	520	F>S		No	ClinGen TOPMed
CA10481065 rs768790138	527	P>S		No	ClinGen ExAC gnomAD
CA413800403 rs768790138	527	P>T		No	ClinGen ExAC gnomAD
CA10481067 rs202127779	528	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1227874526 CA413800497	530	Q>*		No	ClinGen gnomAD
rs1273658649 CA413800547	532	Q>K		No	ClinGen TOPMed gnomAD
rs1342547183 CA413800579	533	G>V		No	ClinGen gnomAD
rs776541027 CA10481068	534	Q>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	535	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	535	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA333012497 rs74562320	538	Q>K		No	ClinGen Ensembl
CA10481069 rs753766160	538	Q>P		No	ClinGen ExAC gnomAD
TCGA novel	542	H>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1186793487 CA413800791	542	H>Q		No	ClinGen TOPMed
CA10481070 rs759428709	543	N>S		No	ClinGen ExAC gnomAD
CA10481072 rs752168538	544	Q>E		No	ClinGen ExAC TOPMed gnomAD
rs752168538 CA413800829	544	Q>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA10481073 rs758004699	545	V>M		No	ClinGen ExAC gnomAD
CA413800867 rs1602662111	546	P>S		No	ClinGen Ensembl
rs1188132696 CA413800888	547	E>G		No	ClinGen TOPMed
CA413800914 rs1480009267	548	Q>P		No	ClinGen TOPMed
CA10481074 rs777307636	549	E>D		No	ClinGen ExAC gnomAD
CA10481075 rs751319570	552	Q>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	553	N>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA413801146 rs1207182694	556	P>S		No	ClinGen TOPMed
CA10481076 rs373316175	558	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA413801226 rs1272868691	559	P>S		No	ClinGen TOPMed
CA413801251 rs1406084481	560	E>V		No	ClinGen gnomAD
rs781719348 CA10481077	561	V>A		No	ClinGen ExAC gnomAD
TCGA novel	561	V>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1308816134 CA413801297	562	Q>*		No	ClinGen gnomAD
CA413801307 rs1298578282	562	Q>R		No	ClinGen gnomAD
CA413801327 rs1365710740	563	E>K		No	ClinGen gnomAD
rs1337295187 CA413801415	566	A>T		No	ClinGen TOPMed
rs1012935688 CA333012512	567	E>K		No	ClinGen TOPMed gnomAD
TCGA novel	568	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10481079 rs770227353	570	Q>K		No	ClinGen ExAC gnomAD
rs1355569679 CA413801588	570	Q>R		No	ClinGen gnomAD
rs1371242293 CA413801626	571	A>V		No	ClinGen TOPMed
CA10481080 rs376975687	572	E>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA413801744 rs1274536479	575	A>E		No	ClinGen TOPMed gnomAD
CA413801748 rs1274536479	575	A>G		No	ClinGen TOPMed gnomAD
CA413801753 rs1274536479	575	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA333012517 rs867396676	577	E>K		No	ClinGen Ensembl
CA413801863 rs749331842	578	P>L		No	ClinGen ExAC TOPMed gnomAD
CA10481081 rs749331842	578	P>R		No	ClinGen ExAC TOPMed gnomAD
rs56350428 VAR_040954 CA10481082	579	E>G		No	ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD
rs762084637 CA10481084	582	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs765286142 CA413801980	582	R>P		No	ClinGen 1000Genomes ExAC gnomAD
rs765286142 CA10481085	582	R>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA10481087 rs759466975	583	V>E		No	ClinGen ExAC
rs544029266 CA10481086	583	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10481088 rs765093273	586	Q>H		No	ClinGen ExAC gnomAD
CA413802104 rs1167685723	586	Q>R		No	ClinGen gnomAD
CA413802112 rs1456744534	587	V>I		No	ClinGen gnomAD
CA333012531 rs957529850	601	P>A		No	ClinGen TOPMed
rs1339607904 CA413802631	601	P>L		No	ClinGen TOPMed gnomAD
CA10481093 rs757020849	607	Q>R		No	ClinGen ExAC gnomAD
CA413802859 rs1326510259	609	L>P	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs767945338 CA10481094	610	I>T		No	ClinGen ExAC TOPMed gnomAD
CA10481095 rs367975216	611	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA413803045 rs1274090646	614	G>W		No	ClinGen TOPMed
CA10481097 rs756575850	616	T>I		No	ClinGen ExAC
CA10481098 rs186381570	617	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1440315372 CA413803178	618	G>V		No	ClinGen TOPMed gnomAD
CA10481099 rs749864252	621	Q>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA10481101 rs779000276	622	A>S		No	ClinGen ExAC TOPMed gnomAD
CA10481102 rs748344200	623	Q>E		No	ClinGen ExAC gnomAD
CA333012549 rs370762401	624	A>P		No	ClinGen ESP TOPMed gnomAD
TCGA novel	625	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1160019887 CA413803440	626	T>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs772301306 CA10481103	626	T>S		No	ClinGen ExAC gnomAD
rs776368434 CA10481104	628	E>G		No	ClinGen ExAC gnomAD
rs375577034 CA333012555	629	P>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA TOPMed gnomAD
rs553259810 CA333012553	629	P>T		No	ClinGen TOPMed
CA333012557 rs954205085	635	S>L		No	ClinGen Ensembl
CA10481105 rs745665794	638	A>G		No	ClinGen ExAC TOPMed gnomAD
CA413803895 rs745665794	638	A>V		No	ClinGen ExAC TOPMed gnomAD
CA333012561 rs1039379201	640	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA10481106 rs769691347	640	I>V		No	ClinGen ExAC TOPMed gnomAD
CA10481107 rs200904424	642	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs762988345 CA10481108	645	R>G		No	ClinGen ExAC TOPMed gnomAD
rs1288438188 CA413804168	646	D>G		No	ClinGen gnomAD
CA10481109 rs372448198	646	D>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA413804161 rs372448198	646	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs933738976 CA333012568	648	L>I		No	ClinGen TOPMed
CA413804251 rs933738976	648	L>V		No	ClinGen TOPMed
rs376634125 CA10481112	649	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA10481111 rs761519714	649	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA10481113 rs750739559	651	P>R		No	ClinGen ExAC gnomAD
CA413804508 rs1213444476	655	N>K		No	ClinGen gnomAD
rs766829321 CA10481115	659	L>F		No	ClinGen ExAC gnomAD
rs1253973587 CA413804607	659	L>H		No	ClinGen TOPMed
rs1485051577 CA413804657	661	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1204792279 CA413804646	661	P>S		No	ClinGen TOPMed
rs1347216750 CA413804762	665	L>V		No	ClinGen TOPMed
CA333012581 rs765022774	672	N>D		No	ClinGen TOPMed gnomAD
CA413804947 rs1175301627	672	N>S		No	ClinGen TOPMed gnomAD
CA413805056 rs1301645772	677	Q>P		No	ClinGen TOPMed
CA413805059 rs1301645772	677	Q>R		No	ClinGen TOPMed
VAR_040955 CA10481121 rs35115195	679	E>G		No	ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
rs747324162 CA10481122	680	Q>L		No	ClinGen ExAC gnomAD
rs369190820 CA413805210	682	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs369190820 CA10481124	682	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA333012588 rs903010922	682	R>W		No	ClinGen TOPMed gnomAD
TCGA novel	685	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA413805285 rs1206561416	686	S>P		No	ClinGen gnomAD
rs1054754678 CA333012591	687	K>E		No	ClinGen TOPMed
TCGA novel	687	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	687	K>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA413805312 rs1455910177	687	K>T		No	ClinGen TOPMed
CA10481125 rs749134798	690	T>A		No	ClinGen ExAC gnomAD
rs768748048 CA10481126	691	L>M		No	ClinGen ExAC gnomAD
CA413805401 rs1209305524	692	R>K		No	ClinGen gnomAD
CA10481128 rs35756971	694	A>T		No	ClinGen ExAC gnomAD
rs1378709188 CA413805459	694	A>V		No	ClinGen TOPMed
CA413805488 rs1448623837	696	A>G		No	ClinGen gnomAD
rs777965913 CA10481129	698	R>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1013297008 CA413805633	703	R>K		No	ClinGen TOPMed gnomAD
rs1013297008 CA333012603	703	R>T		No	ClinGen TOPMed gnomAD
CA413805688 rs1264189193	704	F>C		No	ClinGen TOPMed
CA10481130 rs772732112	704	F>L		No	ClinGen ExAC gnomAD
rs772732112 CA413805662	704	F>V		No	ClinGen ExAC gnomAD
rs1394521986 CA413805701	705	R>G		No	ClinGen TOPMed gnomAD
rs760411123 CA10481131	705	R>T		No	ClinGen ExAC TOPMed gnomAD
CA333012610 rs867732162	706	A>E		No	ClinGen Ensembl
CA333012608 rs575123833	706	A>T		No	ClinGen TOPMed gnomAD
rs766630289 CA10481132	708	S>*		No	ClinGen ExAC gnomAD
rs1298451887 CA413805806	709	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA10481133 rs749723991	710	W>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs759995341 CA413805859	711	R>K		No	ClinGen ExAC gnomAD
CA10481134 rs759995341	711	R>T		No	ClinGen ExAC gnomAD
rs765735236 CA10481135	712	P>S		No	ClinGen ExAC TOPMed gnomAD
CA333012615 rs765735236	712	P>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	714	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	714	K>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs868733068 CA333012620	718	S>*		No	ClinGen gnomAD
rs868733068 CA333012622	718	S>L		No	ClinGen gnomAD
rs868281339 CA333012625	722	A>V		No	ClinGen Ensembl
CA413806207 rs1186898738	723	R>C		No	ClinGen TOPMed gnomAD
rs1186898738 CA413806218	723	R>G		No	ClinGen TOPMed gnomAD
rs758469754 CA10481137	723	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA333012628 rs758469754	723	R>L		No	ClinGen ExAC gnomAD
CA10481138 rs777950325	724	R>G		No	ClinGen ExAC TOPMed gnomAD
rs1163929107 CA413806250	724	R>K		No	ClinGen gnomAD
CA10481139 rs751709929	727	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs33936206 CA10481140 VAR_051653	727	R>H		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA10481141 rs779676790	729	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs779676790 CA10481142	729	R>G		No	ClinGen ExAC TOPMed gnomAD
CA10481143 rs757936056	729	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs757936056 CA413806404	729	R>L		No	ClinGen ExAC TOPMed gnomAD
rs1291005124 CA413806415	730	R>G		No	ClinGen gnomAD
TCGA novel	731	W>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA333012637 rs867115845	732	E>K		No	ClinGen Ensembl
CA413806599 rs1377385160	733	D>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA10481144 rs778977325	734	I>T		No	ClinGen ExAC gnomAD
TCGA novel	735	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10481145 rs748159398	735	F>S		No	ClinGen ExAC gnomAD
CA413806841 rs1337099392	738	H>R		No	ClinGen TOPMed gnomAD
rs771673426 CA10481146	739	E>G		No	ClinGen ExAC gnomAD
rs893329656 CA333012642	740	E>K		No	ClinGen TOPMed gnomAD
rs772827350 CA10481147	744	Q>K		No	ClinGen ExAC TOPMed gnomAD
rs760195464 CA10481148	746	D>N		No	ClinGen ExAC gnomAD
CA10481157 rs751695305	750	E>K		No	ClinGen ExAC gnomAD
rs867785674 CA333013023	754	S>*		No	ClinGen Ensembl
CA413807963 rs868382781	755	D>G		No	ClinGen gnomAD
rs868382781 CA333013025	755	D>V		No	ClinGen gnomAD
CA333013028 rs866487121	757	D>N		No	ClinGen Ensembl
TCGA novel	758	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs868050371 CA333013030	761	H>N		No	ClinGen Ensembl
TCGA novel	761	H>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA333013032 rs1007921996	762	S>L		No	ClinGen gnomAD
CA413808213 rs1215966813	766	E>V		No	ClinGen TOPMed
CA10481160 rs199807026	768	Q>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs1250459605 CA413808252	769	I>L		No	ClinGen gnomAD
CA413808256 rs1470182866	769	I>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1178619718 CA413808264	770	E>D		No	ClinGen gnomAD
CA413808334 rs1283773416	776	I>F		No	ClinGen TOPMed
TCGA novel	776	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	777	S>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA333013040 rs867847899	779	P>H		No	ClinGen Ensembl
TCGA novel	779	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10481164 rs778889013	781	K>N		No	ClinGen ExAC TOPMed gnomAD
CA413808431 rs1242082458	781	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA10481166 rs748073147	782	I>F		No	ClinGen ExAC TOPMed gnomAD
rs748073147 CA10481165	782	I>V		No	ClinGen ExAC TOPMed gnomAD
CA10481175 rs766984351	784	V>F		No	ClinGen ExAC TOPMed gnomAD
CA333013416 rs766984351	784	V>I		No	ClinGen ExAC TOPMed gnomAD
rs766984351 CA10481176	784	V>L		No	ClinGen ExAC TOPMed gnomAD
CA413810629 rs1477507518	788	S>T		No	ClinGen TOPMed gnomAD
CA10481178 RCV000964271 rs192589373	789	P>S		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs750638676 CA10481179	790	S>F		No	ClinGen ExAC gnomAD
rs371241450 CA10481180	793	N>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs371241450 CA333013423	793	N>H		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	795	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs760584420 CA10481181	795	Q>R		No	ClinGen ExAC gnomAD
rs752570655 CA10481182	796	D>N		No	ClinGen ExAC gnomAD
rs1412078460 CA413811011	798	A>V		No	ClinGen gnomAD
rs1349332654 CA413811029	799	H>Q		No	ClinGen gnomAD
rs202170693 CA10481183	799	H>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA333013431 rs992337051	802	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs774915551	806	S>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA10481193 rs774915551	806	S>R		No	ClinGen ExAC gnomAD
CA413811233 rs1326267020	806	S>T		No	ClinGen TOPMed
CA10481194 rs377452837	807	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA333013717 rs949725353	809	Q>K		No	ClinGen Ensembl
rs962537829 CA333013719	810	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs767608122 CA10481195	810	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA413812758 rs866414588	811	S>C		No	ClinGen gnomAD
rs866414588 CA333013720	811	S>F		No	ClinGen gnomAD
rs1412630037 CA413812796	813	L>M		No	ClinGen TOPMed
CA333013722 rs867218885	816	A>D		No	ClinGen Ensembl
CA413812959 rs1317412707	816	A>T		No	ClinGen TOPMed gnomAD
rs1326751314 CA413813051	817	Q>R		No	ClinGen gnomAD
rs1432861615 CA413813148	819	P>S		No	ClinGen gnomAD
CA10481197 rs748722097	820	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1028327324 CA333013727	822	I>L		No	ClinGen gnomAD
rs1028327324 CA413813274	822	I>V		No	ClinGen gnomAD
rs760939013 CA10481198	827	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	829	N>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA333013728 rs866832781	830	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs767188601 CA333013729	830	R>H		No	ClinGen TOPMed gnomAD
rs1449077434 CA413813765	833	W>C		No	ClinGen gnomAD
rs758196970 CA10481201	835	A>S		No	ClinGen ExAC
CA413815674 rs1242345082	838	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1226094847 CA413813919	838	E>K		No	ClinGen TOPMed gnomAD
rs748957839 CA10481209	840	S>F		No	ClinGen ExAC TOPMed gnomAD
CA333014474 rs868753671	842	E>*		No	ClinGen Ensembl
rs1199085148 CA413815852	843	E>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA333014478 rs12834518	847	V>E		No	ClinGen Ensembl
TCGA novel	847	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10481212 rs748636113	849	G>R		No	ClinGen ExAC gnomAD
TCGA novel	849	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA413816072 rs1190631784	850	R>K		No	ClinGen gnomAD
CA10481213 rs772736807	850	R>W		No	ClinGen ExAC TOPMed gnomAD
CA413816089 rs1249772553	851	R>G		No	ClinGen gnomAD
rs200379525 CA10481214	852	S>T		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	854	S>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10481215 rs760848956	855	S>P		No	ClinGen ExAC gnomAD
rs776617589 CA10481216	856	P>L		No	ClinGen 1000Genomes ExAC gnomAD
rs776883441 CA10481217	857	P>S		No	ClinGen ExAC TOPMed gnomAD
rs985585075 CA333014490	860	T>A		No	ClinGen gnomAD
rs1374583456 CA413816538	861	I>V		No	ClinGen TOPMed gnomAD
rs1383738331 CA413816564	862	D>N		No	ClinGen TOPMed
rs1314624431 CA413816884	869	I>N		No	ClinGen gnomAD
rs1390312214 CA413816933	870	H>L		No	ClinGen TOPMed gnomAD
CA10481218 rs759728587	870	H>N		No	ClinGen ExAC TOPMed gnomAD
rs1390312214 CA413816937	870	H>R		No	ClinGen TOPMed gnomAD
rs1458241686 CA413817453	871	V>A		No	ClinGen gnomAD
rs779292616 CA10481230	873	D>H		No	ClinGen ExAC TOPMed gnomAD
rs1236938200 CA413817559	874	G>E		No	ClinGen gnomAD
rs1476650348 CA413817706	876	K>I		No	ClinGen TOPMed
rs1569313098 CA413817729	876	K>N		No	ClinGen Ensembl
rs1295781932 CA413817737	877	V>I		No	ClinGen gnomAD
CA413817768 rs1264947514	878	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA413817829 rs1228742237	879	K>N		No	ClinGen TOPMed gnomAD
CA10481232 rs764355898 VAR_040956	880	I>L	a colorectal adenocarcinoma sample; somatic mutation [UniProt]	No	ClinGen UniProt 1000Genomes ExAC dbSNP gnomAD
TCGA novel	880	I>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs778409021 CA10481233	882	P>R		No	ClinGen ExAC gnomAD
rs747584820 CA10481234	883	P>S		No	ClinGen ExAC TOPMed gnomAD
rs771113520 CA10481235	884	V>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1259325713 CA413818125	885	Y>C		No	ClinGen gnomAD
CA413818106 rs1202714411	885	Y>N		No	ClinGen TOPMed
TCGA novel	887	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs769913549 CA10481238	889	E>A		No	ClinGen ExAC gnomAD
CA333014708 rs888770792	889	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
TCGA novel	890	W>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1163830863 CA413818710	894	N>S		No	ClinGen gnomAD
rs1257854602 CA413818753	895	A>E		No	ClinGen TOPMed
CA10481240 rs761587618	895	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA413818818 rs1287517731	897	S>P		No	ClinGen TOPMed gnomAD
rs1361638668 CA413818862	898	E>A		No	ClinGen gnomAD
TCGA novel	898	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs951033113 CA333014722	899	I>M		No	ClinGen TOPMed
CA10481244 rs765861647	901	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs376128030 CA10481242	901	R>W	Variant assessed as Somatic; 0.0001259 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
CA413819037 rs1332857622	902	N>D		No	ClinGen gnomAD
CA10481245 rs370847640	903	D>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs754592504 CA10481246	904	W>S		No	ClinGen ExAC
rs374389910 CA10481247	907	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1258790117 CA413819547	911	I>V		No	ClinGen gnomAD
rs765620785 CA10481249	912	Q>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	916	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1406670902 CA413819767	916	E>Q		No	ClinGen TOPMed
TCGA novel	921	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1018681747 CA333014743	924	Y>C		No	ClinGen Ensembl
CA413820226 rs1186608026	925	D>E		No	ClinGen gnomAD
rs747472335 CA10481252	925	D>V		No	ClinGen ExAC gnomAD
rs757870815 CA10481253	927	S>G		No	ClinGen ExAC gnomAD
rs193030679 CA10481254	927	S>N		No	ClinGen 1000Genomes ESP ExAC gnomAD
CA10481255 rs745951457	931	D>H		No	ClinGen ExAC
CA10481257 rs372377329	934	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	934	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs775573026 CA10481258	937	E>K		No	ClinGen ExAC gnomAD
rs758879022 CA10481259	938	S>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	938	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA413820774 rs1414637226	944	D>Y		No	ClinGen gnomAD
CA413820965 rs1294021145	950	N>S		No	ClinGen TOPMed gnomAD
rs771829300 CA10481260	951	G>V		No	ClinGen ExAC gnomAD
rs1222317671 CA413821053	953	D>N		No	ClinGen gnomAD
CA413821140 rs1168193323	955	L>F		No	ClinGen TOPMed
rs1283817582 CA413821148	956	D>G		No	ClinGen gnomAD
rs998315945 CA333014756	958	Q>H		No	ClinGen Ensembl
CA10481262 rs765883331	960	D>N		No	ClinGen 1000Genomes ExAC gnomAD
CA10481263 rs766228969	960	D>V		No	ClinGen ExAC TOPMed
CA413821456 rs1289687646	966	C>G		No	ClinGen TOPMed gnomAD
rs1484667528 CA413821471	967	K>E		No	ClinGen gnomAD
VAR_040957 CA10481265 rs35334892	971	D>G		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA333014769 rs951696601	971	D>H		No	ClinGen TOPMed gnomAD
rs1175188684 CA413821637	973	N>H		No	ClinGen gnomAD
rs371339898 CA10481266	973	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA333014775 rs909910218	975	K>T		No	ClinGen gnomAD
rs1419244876 CA413821776	977	V>A		No	ClinGen gnomAD
CA413821795 rs1209473414	978	D>G		No	ClinGen TOPMed
rs374869611 CA10481267	979	D>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA413821862 rs1434670397	980	V>L		No	ClinGen gnomAD
rs1314003801 CA413821981	984	Y>F		No	ClinGen gnomAD
CA413822063 rs1377419941	987	A>V		No	ClinGen gnomAD
rs1308527753 CA413822102	988	P>L		No	ClinGen TOPMed
TCGA novel	991	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10481275 rs16984889 VAR_033909	993	A>E		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs16984889 CA10481276	993	A>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10481274 rs756118738	993	A>T		No	ClinGen ExAC gnomAD
rs768893519 CA10481277	994	S>G		No	ClinGen ExAC TOPMed gnomAD
CA333015064 rs775239231	994	S>N		No	ClinGen TOPMed
CA10481278 rs772920831	995	Y>C		No	ClinGen ExAC gnomAD
CA10481280 rs770816601	996	G>D		No	ClinGen ExAC gnomAD
rs746819331 CA10481279	996	G>S		No	ClinGen ExAC gnomAD
rs776426700 CA10481281	997	R>G		No	ClinGen ExAC TOPMed gnomAD
rs759557006 CA10481282	1000	S>N		No	ClinGen ExAC gnomAD
CA10481283 rs759557006	1000	S>T		No	ClinGen ExAC gnomAD
TCGA novel	1001	C>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1444695973 CA413822983	1002	K>T		No	ClinGen gnomAD
CA10481284 rs775174026	1005	G>D		No	ClinGen ExAC TOPMed gnomAD
CA10481285 rs775174026	1005	G>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1008	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10481286 rs753644548	1010	R>C		No	ClinGen 1000Genomes ExAC gnomAD
rs371521568 CA10481287	1010	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1347043783 CA413823291	1011	G>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA10481288 rs757562563	1013	E>K		No	ClinGen ExAC gnomAD
TCGA novel	1013	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs747242923 CA413823428	1015	A>D		No	ClinGen TOPMed gnomAD
rs747242923 CA413823432	1015	A>G		No	ClinGen TOPMed gnomAD
CA10481289 rs370047556	1015	A>S		No	ClinGen ESP ExAC gnomAD
CA333015116 rs747242923	1015	A>V		No	ClinGen TOPMed gnomAD
rs756664172 CA10481291	1016	Y>C		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1021	S>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA413823599 rs373330300	1022	H>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs373330300 CA10481292	1022	H>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA333015125 rs753915179	1025	N>D		No	ClinGen ExAC TOPMed gnomAD
CA10481293 rs753915179	1025	N>H		No	ClinGen ExAC TOPMed gnomAD
CA413823667 rs1363171684	1025	N>S		No	ClinGen TOPMed
TCGA novel	1026	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA413823722 rs1474725336	1027	S>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA333015141 rs868375407	1028	H>N		No	ClinGen Ensembl
rs1167820107 CA413823740	1028	H>R		No	ClinGen TOPMed gnomAD
rs1420367072 CA413823779	1030	G>A		No	ClinGen gnomAD
CA413823761 rs1569313931	1030	G>R		No	ClinGen Ensembl
CA413823817 rs1163124416	1032	A>T		No	ClinGen gnomAD
rs768497116 CA333015142	1033	A>P		No	ClinGen Ensembl
rs12395531 CA10481297 CA10481298	1036	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10481296 rs748436126	1036	D>G		No	ClinGen ExAC gnomAD
rs768682935 CA10481299	1037	N>D		No	ClinGen 1000Genomes ExAC gnomAD
CA10481300 rs769777904	1037	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1471395561 CA413824056	1040	I>M		No	ClinGen TOPMed
rs762539895 CA10481302	1040	I>T		No	ClinGen ExAC TOPMed gnomAD
rs768351906 CA10481303	1041	G>E		No	ClinGen ExAC gnomAD
CA333015162 rs941784968	1042	D>H		No	ClinGen Ensembl
CA10481304 rs774120917	1043	Q>H		No	ClinGen ExAC gnomAD
rs1333740745 CA413824250	1046	H>P		No	ClinGen gnomAD
CA10481306 rs368671831	1047	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA10481307 rs373277999	1048	A>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1489910323 CA413824324	1049	N>H		No	ClinGen TOPMed
CA10481309 rs187422962	1050	I>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1243186715 CA413824412	1051	G>V		No	ClinGen gnomAD
rs754400354 CA10481310	1053	E>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs755044109 CA10481311	1056	G>D		No	ClinGen ExAC gnomAD
rs752839206 CA10481313	1058	E>K		No	ClinGen ExAC gnomAD
CA413824602 rs1353032215	1060	D>G		No	ClinGen TOPMed
TCGA novel	1061	G>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10481314 rs376619055	1061	G>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10481315 rs773619860	1063	K>N		No	ClinGen 1000Genomes ExAC gnomAD
rs763158879 CA333015192	1064	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen 1000Genomes NCI-TCGA
CA10481316 rs745690706	1065	V>F		No	ClinGen ExAC gnomAD
CA10481317 rs769536438	1066	V>F		No	ClinGen ExAC gnomAD
rs769536438 CA10481318	1066	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA10481319 rs749281665	1067	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA10481320 rs768263883	1069	S>I		No	ClinGen ExAC gnomAD
rs774024894 CA10481321	1071	E>D		No	ClinGen ExAC gnomAD
TCGA novel	1072	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1233566198 CA413824793	1076	G>R		No	ClinGen gnomAD
TCGA novel	1077	L>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs896500173 CA333015219	1078	N>K		No	ClinGen Ensembl
rs980074417 CA413824815	1079	G>A		No	ClinGen TOPMed gnomAD
rs980074417 CA333015222	1079	G>E		No	ClinGen TOPMed gnomAD
CA413824873 rs1269389923	1087	D>G		No	ClinGen TOPMed gnomAD
TCGA novel	1087	D>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs761329089 CA10481322	1089	P>L		No	ClinGen ExAC TOPMed gnomAD
CA10481323 rs771756606	1090	G>E		No	ClinGen ExAC TOPMed gnomAD
rs771756606 CA413824892	1090	G>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1093	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10481325 rs41300163	1094	P>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA10481324 rs773388396	1094	P>S		No	ClinGen ExAC TOPMed gnomAD
rs766795248 CA10481326	1095	A>V		No	ClinGen ExAC TOPMed gnomAD
CA413824979 rs1362288549	1103	Q>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1248452134 CA413829022	1105	E>G		No	ClinGen gnomAD
CA333017920 VAR_040958 rs35393519	1106	P>S		No	ClinGen UniProt Ensembl dbSNP
rs780965637 CA333017921	1107	G>S		No	ClinGen Ensembl
CA10481344 rs771263147	1107	G>V		No	ClinGen ExAC gnomAD
rs777002408 CA10481345	1109	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1005600420 CA333017926	1112	A>P		No	ClinGen gnomAD
rs1489081382 CA413829182	1115	A>T		No	ClinGen TOPMed
CA10481346 rs374447699	1116	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA10481347 rs368674115	1119	G>A		No	ClinGen ESP ExAC TOPMed
VAR_040959 rs35720774 CA333017937	1121	A>P		No	ClinGen UniProt Ensembl dbSNP
rs775920538 CA10481348	1122	P>L		No	ClinGen ExAC TOPMed gnomAD
CA413829345 rs1393641642	1125	P>T		No	ClinGen gnomAD
TCGA novel	1126	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs764122599 CA10481350	1128	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs188996722 RCV000962801 CA10481351	1131	N>S		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs200701058 CA10481352	1135	S>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs200701058 CA413829542	1135	S>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs753687096 CA10481354	1136	E>A		No	ClinGen ExAC TOPMed gnomAD
CA10481355 rs181789019	1137	S>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs778894640 CA10481356	1138	S>T		No	ClinGen ExAC gnomAD
rs1249734469 CA413829597	1139	T>A		No	ClinGen gnomAD
TCGA novel	1140	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA333017966 rs927807678	1141	S>P		No	ClinGen Ensembl
TCGA novel	1143	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs757892506 CA10481358	1143	F>S		No	ClinGen ExAC
CA413829712 rs1300570822	1145	A>T		No	ClinGen TOPMed gnomAD
CA413829755 rs1196662119	1147	H>Y		No	ClinGen gnomAD
rs770600883 CA10481361	1150	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA
TCGA novel	1150	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1381806591 CA413829864	1153	G>V		No	ClinGen TOPMed
CA10481363 rs746218592	1155	G>R		No	ClinGen ExAC TOPMed gnomAD
rs776036206 CA10481365	1161	N>I		No	ClinGen ExAC gnomAD
CA413830029 rs1370889379	1162	F>S		No	ClinGen gnomAD
CA413830075 rs1569316891	1165	A>T		No	ClinGen Ensembl
rs376184549 CA10481366	1165	A>V		No	ClinGen ESP ExAC gnomAD
CA10481387 rs772341965	1169	A>G		No	ClinGen ExAC TOPMed gnomAD
CA10481385 rs377439740	1169	A>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA10481386 rs377439740	1169	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA10481389 rs761025339	1170	G>E		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1170	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1487809363 CA413830244	1171	F>L		No	ClinGen TOPMed
rs1283586114 CA413830250	1171	F>S		No	ClinGen TOPMed
rs866467011 CA333018306	1172	V>I		No	ClinGen TOPMed gnomAD
CA413830282 rs369398549	1173	E>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs369398549 CA10481391	1173	E>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA333018312 rs368136492	1175	P>S		No	ClinGen gnomAD
rs1044997575 CA333018315	1179	P>R		No	ClinGen TOPMed gnomAD
CA333018321 rs12838291	1183	S>F		No	ClinGen Ensembl
TCGA novel	1183	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs762880337 CA10481392	1184	E>D		No	ClinGen ExAC gnomAD
rs372760080 CA10481393	1186	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1602691134 CA413830499	1187	V>I		No	ClinGen Ensembl
CA10481394 rs751565506	1188	N>D		No	ClinGen ExAC gnomAD
rs1484251203 CA413830554	1189	P>L		No	ClinGen gnomAD
CA413830561 rs1359068965	1190	L>F		No	ClinGen TOPMed
rs780730588 CA10481396	1191	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA10481397 rs780730588	1191	Y>F		No	ClinGen ExAC TOPMed gnomAD
CA10481398 rs755755946	1193	S>A		No	ClinGen ExAC gnomAD
rs186268349 CA333018332	1194	P>S		No	ClinGen 1000Genomes
rs1258674037 CA413830631	1195	A>T		No	ClinGen gnomAD
rs1416186518 CA413830657	1196	C>Y		No	ClinGen TOPMed
CA10481400 rs377206105	1197	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	1198	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA413830691 rs1217214439	1198	K>Q		No	ClinGen gnomAD
rs769118780 CA10481401	1199	P>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA413830779 rs1477443377	1203	M>R		No	ClinGen TOPMed
rs779554607 CA10481402	1205	E>G		No	ClinGen ExAC gnomAD
rs941601755 CA333018343	1206	K>E		No	ClinGen Ensembl
CA413830887 rs1190977069	1208	F>L		No	ClinGen gnomAD
CA333018346 rs767208979	1216	S>P		No	ClinGen 1000Genomes
CA413831043 rs1260837946	1217	L>S		No	ClinGen TOPMed
rs1237504924 CA413832195	1219	G>A		No	ClinGen gnomAD
TCGA novel	1219	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs766977311 CA10481413	1220	V>I		No	ClinGen ExAC gnomAD
TCGA novel	1222	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10481414 rs749944477	1223	L>M		No	ClinGen ExAC
CA10481415 rs755738762	1225	G>R		No	ClinGen ExAC gnomAD
CA10481416 rs765930296	1227	R>*		No	ClinGen ExAC gnomAD
rs765930296 CA413832468	1227	R>G		No	ClinGen ExAC gnomAD
CA333019041 rs963894840	1227	R>Q		No	ClinGen TOPMed gnomAD
CA413832492 rs753590476	1228	S>C		No	ClinGen ExAC TOPMed gnomAD
CA413832496 rs753590476	1228	S>F		No	ClinGen ExAC TOPMed gnomAD
CA413832488 rs1178161141	1228	S>P		No	ClinGen TOPMed
CA10481417 rs753590476	1228	S>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs973647825 CA413832620	1234	D>G		No	ClinGen TOPMed gnomAD
rs973647825 CA333019044	1234	D>V		No	ClinGen TOPMed gnomAD
CA413832665 rs1440360618	1237	G>R		No	ClinGen gnomAD
CA413832686 rs1157744803	1238	K>Q		No	ClinGen gnomAD
CA413832720 rs1569317840	1239	A>P		No	ClinGen Ensembl
CA333019046 rs922182043	1240	D>N		No	ClinGen TOPMed gnomAD
rs1386434784 CA413832858	1245	I>V		No	ClinGen TOPMed gnomAD
CA413832874 rs1375966675	1246	R>G		No	ClinGen gnomAD
CA10481418 rs755263364	1247	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA10481419 rs779466713	1251	R>C		No	ClinGen ExAC TOPMed gnomAD
CA10481420 rs544266682	1251	R>H		No	ClinGen ExAC TOPMed gnomAD
rs544266682 CA333019111	1251	R>L		No	ClinGen ExAC TOPMed gnomAD
CA413832972 rs779466713	1251	R>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1257	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs777931840 CA10481422	1258	P>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA333019119 rs1037355121	1261	L>F		No	ClinGen Ensembl
rs773262656 CA10481431	1269	K>E		No	ClinGen ExAC gnomAD
TCGA novel	1272	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs765951003 CA10481433	1273	R>Q		No	ClinGen ExAC gnomAD
rs760095106 CA10481432	1273	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1271723250 CA413833654	1274	V>M		No	ClinGen gnomAD
rs753407199 CA10481434	1275	Y>H		No	ClinGen ExAC TOPMed gnomAD
CA333019955 rs35942881 VAR_040960	1276	H>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen UniProt Ensembl NCI-TCGA dbSNP
CA10481436 rs765655730	1278	T>A		No	ClinGen ExAC gnomAD
rs1371338656 CA413833778	1281	R>G		No	ClinGen TOPMed
CA413833793 rs1327703946	1281	R>S		No	ClinGen gnomAD
rs778421031 CA10481439	1282	N>K		No	ClinGen ExAC gnomAD
CA413833808 rs1211060887	1282	N>S		No	ClinGen gnomAD
rs1302655717 CA413833817	1283	K>*		No	ClinGen TOPMed
CA10481441 rs757262930	1284	I>V		No	ClinGen ExAC gnomAD
rs1602696118 CA413833857	1285	L>S		No	ClinGen Ensembl
rs781356878 CA10481442	1292	K>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1293	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA413834012 rs1416023467	1294	R>M		No	ClinGen TOPMed
rs376434475 CA333020060	1295	Q>E		No	ClinGen ESP TOPMed gnomAD
TCGA novel	1302	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10481444 rs780564047	1304	A>S		No	ClinGen 1000Genomes ExAC gnomAD
CA413834193 rs1277049640	1305	C>Y		No	ClinGen gnomAD
rs774077795 CA10481445	1308	I>V		No	ClinGen ExAC gnomAD
rs1220155009 CA413834269	1310	K>N		No	ClinGen gnomAD
rs1291054598 CA413834289	1312	T>A		No	ClinGen gnomAD
CA10481446 rs537241962	1312	T>I		No	ClinGen ExAC gnomAD
rs972352765 CA333020148	1313	G>D		No	ClinGen TOPMed
rs972352765 CA333020153	1313	G>V		No	ClinGen TOPMed
CA413834336 rs1210824097	1316	H>N		No	ClinGen gnomAD
CA413834370 rs1292410391	1318	S>N		No	ClinGen TOPMed gnomAD
rs199847315 CA10481448	1320	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA413834840 rs1189838299	1321	Q>R		No	ClinGen TOPMed gnomAD
rs1239049758 CA413834869	1325	T>A		No	ClinGen TOPMed gnomAD
rs1239049758 CA413834870	1325	T>S		No	ClinGen TOPMed gnomAD
CA333021865 rs373839429	1326	T>R		No	ClinGen ESP TOPMed
rs1437590242 CA413834886	1327	Y>*		No	ClinGen gnomAD
CA413834898 rs1157760839	1329	A>G		No	ClinGen gnomAD
TCGA novel	1329	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA333021869 rs969280366	1336	I>V		No	ClinGen Ensembl
CA413834956 rs1380861308	1338	L>F		No	ClinGen gnomAD
CA10481461 rs781068792	1339	Y>*		No	ClinGen ExAC gnomAD
rs757816488 CA10481460	1339	Y>F		No	ClinGen ExAC gnomAD
CA413834960 rs1421389660	1339	Y>H		No	ClinGen TOPMed gnomAD
TCGA novel	1340	A>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10481462 rs750533626	1341	W>C		No	ClinGen ExAC gnomAD
CA413834977 rs1414323773	1341	W>L		No	ClinGen TOPMed
TCGA novel	1342	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10481463 rs756247924	1342	A>V		No	ClinGen ExAC gnomAD
rs1353657269 CA413834998	1344	K>N		No	ClinGen TOPMed
CA333021901 rs1046814099	1345	S>F		No	ClinGen TOPMed gnomAD
TCGA novel	1347	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs368036194 CA10481464	1348	E>G		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	1348	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs749548550 CA10481465	1350	T>A		No	ClinGen ExAC gnomAD
rs1356490482 CA413835038	1350	T>S		No	ClinGen gnomAD
rs771829090 CA10481466	1351	A>T		No	ClinGen ExAC gnomAD
CA413835053 rs1255525796	1353	K>E		No	ClinGen gnomAD
TCGA novel	1353	K>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs759103732 CA10481472	1354	V>L		No	ClinGen ExAC gnomAD
rs1000576652 CA333022632	1355	C>G		No	ClinGen gnomAD
CA413835159 rs1000576652	1355	C>S		No	ClinGen gnomAD
rs769469390 CA10481473	1356	I>T		No	ClinGen ExAC gnomAD
rs762718982 CA10481475	1361	D>V		No	ClinGen ExAC TOPMed gnomAD
CA333022675 rs866723621	1364	G>E		No	ClinGen Ensembl
CA333022697 rs1010577750	1365	D>G		No	ClinGen TOPMed gnomAD
rs964414093 CA333022700	1366	Y>H		No	ClinGen Ensembl
rs1458917007 CA413835381	1367	M>T		No	ClinGen gnomAD
CA413835434 rs1208060203	1369	Y>C		No	ClinGen gnomAD
TCGA novel	1370	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs751960887 CA10481477	1370	Q>K		No	ClinGen ExAC gnomAD
CA10481478 rs762171526	1372	Y>C		No	ClinGen ExAC gnomAD
rs1200400144 CA413835558	1373	I>M		No	ClinGen TOPMed gnomAD
CA10481479 rs768058273	1374	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA413835564 rs768058273	1374	R>G		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1375	I>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1376	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs756151651 CA10481481	1377	A>T		No	ClinGen ExAC
rs1170916366 CA413835685	1379	I>M		No	ClinGen gnomAD
TCGA novel	1382	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10481482 rs780152991	1383	D>E		No	ClinGen ExAC gnomAD
CA413835752 rs1402976490	1383	D>N		No	ClinGen gnomAD
rs754007962 CA10481483	1384	P>A		No	ClinGen ExAC gnomAD
rs755257840 CA10481484	1385	V>M		No	ClinGen ExAC gnomAD
rs777578995 CA10481487	1387	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs372868547 CA10481486	1387	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA413835878 rs1425355135	1389	K>*		No	ClinGen TOPMed
TCGA novel	1389	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA413835883 rs1332863759	1389	K>R		No	ClinGen gnomAD
CA10481488 rs781184339	1391	P>T		No	ClinGen ExAC gnomAD
CA413835958 rs1288826334	1392	D>E		No	ClinGen Ensembl
CA413835995 rs1488782245	1394	L>F		No	ClinGen gnomAD
CA10481489 rs745850463	1395	L>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA413836081 rs1487666470	1397	L>S		No	ClinGen gnomAD
CA333022765 rs368907776	1401	K>R		No	ClinGen ESP
TCGA novel	1403	F>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs765484431 CA10481502	1404	P>L		No	ClinGen ExAC
TCGA novel	1404	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA413836374 rs1378907401	1405	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1180900379 CA413836381	1405	T>K		No	ClinGen gnomAD
rs752930698 CA10481503	1407	D>H		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1407	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA413836504 rs1602702654	1410	P>L		No	ClinGen Ensembl
rs376298738 CA10481504	1412	T>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs982962923 CA333022926	1413	V>A		No	ClinGen Ensembl
rs533379617 CA333022933	1416	A>D		No	ClinGen TOPMed
CA413836602 rs533379617	1416	A>G		No	ClinGen TOPMed
rs745758766 CA10481506	1417	I>T		No	ClinGen ExAC TOPMed gnomAD
CA333022937 rs1016299498	1417	I>V		No	ClinGen Ensembl
CA413836652 rs1350190738	1420	E>K		No	ClinGen gnomAD
TCGA novel	1422	R>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1426	F>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10481510 rs768113962	1430	A>G		No	ClinGen ExAC gnomAD
CA10481508 rs779651110	1430	A>S		No	ClinGen ExAC gnomAD
CA10481509 rs779651110	1430	A>T		No	ClinGen ExAC gnomAD
CA333022946 rs267606301	1432	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs267606300 CA333022940	1432	G>R		No	ClinGen Ensembl
CA10481511 rs774019569	1434	H>R		No	ClinGen ExAC gnomAD
TCGA novel	1435	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA413837005 rs1379702099	1436	I>F		No	ClinGen gnomAD
CA10481512 rs766830131	1437	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA10481514 rs773601758	1442	V>F		No	ClinGen ExAC TOPMed gnomAD
CA10481515 rs201434096	1446	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1368913754 CA413837242	1447	T>I		No	ClinGen gnomAD
CA333022966 rs867857879	1449	P>L		No	ClinGen Ensembl
CA10481536 rs778055963	1454	E>G		No	ClinGen ExAC gnomAD
rs747362643 CA10481537	1455	I>L		No	ClinGen ExAC gnomAD
TCGA novel	1458	P>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA413838339 rs1487347173	1464	L>S		No	ClinGen gnomAD
TCGA novel	1465	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs777092523 CA10481539	1467	C>S		No	ClinGen ExAC
CA333024312 rs368049096	1467	C>W		No	ClinGen ESP gnomAD
rs760011195 CA10481540	1468	L>S		No	ClinGen ExAC gnomAD
rs769878018 CA10481541	1469	G>E		No	ClinGen ExAC TOPMed gnomAD
rs1411317788 CA413838423	1470	I>T		No	ClinGen gnomAD
CA10481542 rs771009587	1470	I>V		No	ClinGen ExAC TOPMed gnomAD
CA333024325 VAR_040961 rs34232354	1471	G>A		No	ClinGen UniProt TOPMed dbSNP gnomAD
VAR_040962 CA333024326 rs35609510	1472	M>L		No	ClinGen UniProt TOPMed dbSNP
CA413839061 rs1277323553	1476	F>L		No	ClinGen gnomAD
rs763175892 CA10481543	1477	N>S		No	ClinGen ExAC TOPMed gnomAD
CA413839088 rs1397591677	1480	A>T		No	ClinGen gnomAD
CA413839096 rs1296975290	1481	L>F		No	ClinGen gnomAD
CA413839110 rs1320853308	1483	V>A		No	ClinGen TOPMed
rs1432424209 CA413839108	1483	V>L		No	ClinGen gnomAD
CA413839106 rs1432424209	1483	V>M		No	ClinGen gnomAD
rs751894113 CA10481545	1485	A>T		No	ClinGen ExAC
rs1229460905 CA413839136	1487	E>G		No	ClinGen gnomAD
rs35145709 CA10481546	1489	L>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA413839152 rs1569321639	1489	L>P		No	ClinGen Ensembl
rs766321725 CA10481547	1490	F>L		No	ClinGen ExAC
CA10481548 rs757904272	1494	L>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10481549 rs754906554	1496	M>K		No	ClinGen ExAC gnomAD
CA413839226 rs1602706627	1499	D>E		No	ClinGen Ensembl
rs752164569 CA10481551	1499	D>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA10481550 rs181878602	1499	D>N	Variant assessed as Somatic; 6.389e-05 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1185662152 CA413839228	1500	I>L		No	ClinGen gnomAD
rs1472338586 CA413839233	1500	I>M		No	ClinGen gnomAD
CA10481552 rs757962506	1500	I>T		No	ClinGen ExAC gnomAD
rs1433414160 CA413839239	1501	P>L		No	ClinGen TOPMed
rs1053043428 CA333024350	1502	S>F		No	ClinGen TOPMed
rs1183896534 CA413839242	1502	S>T		No	ClinGen gnomAD
rs746704939 CA10481554	1504	I>T		No	ClinGen ExAC TOPMed gnomAD
CA10481555 rs200931037	1505	A>S		No	ClinGen ExAC gnomAD
rs753583594 CA10481568	1506	F>L		No	ClinGen ExAC gnomAD
CA413839287 rs753448940	1507	E>D		No	ClinGen TOPMed
rs1398524418 CA413839289	1508	C>S		No	ClinGen gnomAD
TCGA novel	1508	C>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs759463167 CA413839310	1510	Q>H		No	ClinGen ExAC gnomAD
CA413839312 rs1246400734	1511	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1310620401 CA413839313	1511	R>Q		No	ClinGen gnomAD
TCGA novel	1513	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA333025774 rs868055088	1514	G>R		No	ClinGen Ensembl
CA333025780 rs867380218	1515	W>*		No	ClinGen Ensembl
rs1231177164 CA413839334	1515	W>R		No	ClinGen gnomAD
rs186516629 CA10481571	1516	G>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	1517	Q>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs372460980 CA10481573	1520	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA413839369 rs1205785066	1520	I>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
TCGA novel	1521	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA413839386 rs1230054332	1522	V>A		No	ClinGen TOPMed
CA10481575 rs375705845	1523	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs375705845 CA10481576	1523	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs746202742 CA10481577	1523	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1198483211 CA413839396	1524	S>C		No	ClinGen Ensembl
CA10481580 rs749856246	1528	R>S		No	ClinGen ExAC gnomAD
CA10481581 rs768803127	1530	L>P		No	ClinGen ExAC gnomAD
TCGA novel	1534	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10481582 rs774608160	1536	R>C		No	ClinGen ExAC TOPMed gnomAD
rs752587677 CA10481583	1536	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs752587677 CA333025881	1536	R>L		No	ClinGen ExAC TOPMed gnomAD
rs1385554195 CA413839479	1537	R>S		No	ClinGen gnomAD
rs201918476 CA10481586	1539	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs775268328 CA10481588	1548	R>Q		No	ClinGen ExAC gnomAD
CA10481587 rs765122226	1548	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed
rs1276547282 CA413839554	1549	G>D		No	ClinGen TOPMed gnomAD
CA413839558 rs1317465002	1550	D>Y		No	ClinGen gnomAD
rs1242600690 CA413839586	1552	L>M		No	ClinGen gnomAD
rs1359989411 CA413839597	1553	F>L		No	ClinGen gnomAD
rs866670823 CA413839617	1556	S>F		No	ClinGen TOPMed
rs866670823 CA333026927	1556	S>Y		No	ClinGen TOPMed
CA10481603 rs772263714	1558	L>M		No	ClinGen ExAC gnomAD
CA10481605 rs201279660	1559	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs769426284 CA10481606	1559	R>H		No	ClinGen ExAC TOPMed gnomAD
CA10481604 rs201279660	1559	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1391423374 CA413839637	1560	N>K		No	ClinGen gnomAD
rs1186720077 CA413839635	1560	N>S		No	ClinGen gnomAD
rs775295878 CA10481607	1562	H>R		No	ClinGen ExAC gnomAD
rs1187209696 CA413839657	1563	S>N		No	ClinGen gnomAD
rs1386439227 CA413839663	1564	R>W		No	ClinGen TOPMed gnomAD
rs1156976003 CA413839689 CA413839691	1568	M>L		No	ClinGen TOPMed gnomAD
rs1156976003 CA413839690	1568	M>V		No	ClinGen TOPMed gnomAD
rs1454553069 CA413839706	1570	L>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA333026974 rs915590915	1570	L>P		No	ClinGen TOPMed
TCGA novel	1572	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA413839741 rs1377160702	1575	E>G		No	ClinGen gnomAD
rs767101055 CA10481612	1578	S>R		No	ClinGen ExAC TOPMed gnomAD

No associated diseases with Q7Z2Y5

4 regional properties for Q7Z2Y5

Type	Name	Position	InterPro Accession
domain	Protein kinase domain	25 - 313	IPR000719
domain	Citron homology (CNH) domain	1204 - 1558	IPR001180
active_site	Serine/threonine-protein kinase, active site	173 - 185	IPR008271
binding_site	Protein kinase, ATP binding site	31 - 54	IPR017441

Functions

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

1 GO annotations of cellular component

Name	Definition
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.

3 GO annotations of molecular function

Name	Definition
ATP binding	Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
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.

6 GO annotations of biological process

Name	Definition
actin cytoskeleton reorganization	A process that is carried out at the cellular level which results in dynamic structural changes to the arrangement of constituent parts of cytoskeletal structures comprising actin filaments and their associated proteins.
intracellular signal transduction	The process in which a signal is passed on to downstream components within the cell, which become activated themselves to further propagate the signal and finally trigger a change in the function or state of the cell.
MAPK cascade	An intracellular protein kinase cascade containing at least a MAPK, a MAPKK and a MAP3K. The cascade can also contain an additional tiers: the upstream MAP4K. The kinases in each tier phosphorylate and activate the kinase in the downstream tier to transmit a signal within a cell.
neuron projection morphogenesis	The process in which the anatomical structures of a neuron projection are generated and organized. A neuron projection is any process extending from a neural cell, such as axons or dendrites.
protein phosphorylation	The process of introducing a phosphate group on to a protein.
regulation of MAPK cascade	Any process that modulates the frequency, rate or extent of signal transduction mediated by the MAP kinase (MAPK) cascade.

5 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
O95819	MAP4K4	Mitogen-activated protein kinase kinase kinase kinase 4	Homo sapiens (Human)	PR
Q9JM52	Mink1	Misshapen-like kinase 1	Mus musculus (Mouse)	PR
P83510	Tnik	Traf2 and NCK-interacting protein kinase	Mus musculus (Mouse)	PR
P97820	Map4k4	Mitogen-activated protein kinase kinase kinase kinase 4	Mus musculus (Mouse)	PR
Q9R0G8	Nrk	Nik-related protein kinase	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MAGPGGWRDR	EVTDLGHLPD	PTGIFSLDKT	IGLGTYGRIY	LGLHEKTGAF	TAVKVMNARK
70	80	90	100	110	120
TPLPEIGRRV	RVNKYQKSVG	WRYSDEEEDL	RTELNLLRKY	SFHKNIVSFY	GAFFKLSPPG
130	140	150	160	170	180
QRHQLWMVME	LCAAGSVTDV	VRMTSNQSLK	EDWIAYICRE	ILQGLAHLHA	HRVIHRDIKG
190	200	210	220	230	240
QNVLLTHNAE	VKLVDFGVSA	QVSRTNGRRN	SFIGTPYWMA	PEVIDCDEDP	RRSYDYRSDV
250	260	270	280	290	300
WSVGITAIEM	AEGAPPLCNL	QPLEALFVIL	RESAPTVKSS	GWSRKFHNFM	EKCTIKNFLF
310	320	330	340	350	360
RPTSANMLQH	PFVRDIKNER	HVVESLTRHL	TGIIKKRQKK	GIPLIFEREE	AIKEQYTVRR
370	380	390	400	410	420
FRGPSCTHEL	LRLPTSSRCR	PLRVLHGEPS	QPRWLPDREE	PQVQALQQLQ	GAARVFMPLQ
430	440	450	460	470	480
ALDSAPKPLK	GQAQAPQRLQ	GAARVFMPLQ	AQVKAKASKP	LQMQIKAPPR	LRRAARVLMP
490	500	510	520	530	540
LQAQVRAPRL	LQVQSQVSKK	QQAQTQTSEP	QDLDQVPEEF	QGQDQVPEQQ	RQGQAPEQQQ
550	560	570	580	590	600
RHNQVPEQEL	EQNQAPEQPE	VQEQAAEPAQ	AETEAEEPES	LRVNAQVFLP	LLSQDHHVLL
610	620	630	640	650	660
PLHLDTQVLI	PVEGQTEGSP	QAQAWTLEPP	QAIGSVQALI	EGLSRDLLRA	PNSNNSKPLG
670	680	690	700	710	720
PLQTLMENLS	SNRFYSQPEQ	AREKKSKVST	LRQALAKRLS	PKRFRAKSSW	RPEKLELSDL
730	740	750	760	770	780
EARRQRRQRR	WEDIFNQHEE	ELRQVDKDKE	DESSDNDEVF	HSIQAEVQIE	PLKPYISNPK
790	800	810	820	830	840
KIEVQERSPS	VPNNQDHAHH	VKFSSSVPQR	SLLEQAQKPI	DIRQRSSQNR	QNWLAASESS
850	860	870	880	890	900
SEEESPVTGR	RSQSSPPYST	IDQKLLVDIH	VPDGFKVGKI	SPPVYLTNEW	VGYNALSEIF
910	920	930	940	950	960
RNDWLTPAPV	IQPPEEDGDY	VELYDASADT	DGDDDDESND	TFEDTYDHAN	GNDDLDNQVD
970	980	990	1000	1010	1020
QANDVCKDHD	DDNNKFVDDV	NNNYYEAPSC	PRASYGRDGS	CKQDGYDGSR	GKEEAYRGYG
1030	1040	1050	1060	1070	1080
SHTANRSHGG	SAASEDNAAI	GDQEEHAANI	GSERRGSEGD	GGKGVVRTSE	ESGALGLNGE
1090	1100	1110	1120	1130	1140
ENCSETDGPG	LKRPASQDFE	YLQEEPGGGN	EASNAIDSGA	APSAPDHESD	NKDISESSTQ
1150	1160	1170	1180	1190	1200
SDFSANHSSP	SKGSGMSADA	NFASAILYAG	FVEVPEESPK	QPSEVNVNPL	YVSPACKKPL
1210	1220	1230	1240	1250	1260
IHMYEKEFTS	EICCGSLWGV	NLLLGTRSNL	YLMDRSGKAD	ITKLIRRRPF	RQIQVLEPLN
1270	1280	1290	1300	1310	1320
LLITISGHKN	RLRVYHLTWL	RNKILNNDPE	SKRRQEEMLK	TEEACKAIDK	LTGCEHFSVL
1330	1340	1350	1360	1370	1380
QHEETTYIAI	ALKSSIHLYA	WAPKSFDEST	AIKVCIDQSA	DSEGDYMSYQ	AYIRILAKIQ
1390	1400	1410	1420	1430	1440
AADPVNRFKR	PDELLHLLKL	KVFPTLDHKP	VTVDLAIGSE	KRLKIFFSSA	DGYHLIDAES
1450	1460	1470	1480	1490	1500
EVMSDVTLPK	NPLEIIIPQN	IIILPDCLGI	GMMLTFNAEA	LSVEANEQLF	KKILEMWKDI
1510	1520	1530	1540	1550	1560
PSSIAFECTQ	RTTGWGQKAI	EVRSLQSRVL	ESELKRRSIK	KLRFLCTRGD	KLFFTSTLRN
1570	1580
HHSRVYFMTL	GKLEELQSNY	DV