AiPD: Autoinhibited Protein Database

Q14934

Gene name	NFATC4
Protein name	Nuclear factor of activated T-cells, cytoplasmic 4
Names	NF-ATc4, NFATc4, T-cell transcription factor NFAT3, NF-AT3
Species	Homo sapiens (Human)
KEGG Pathway	hsa:4776
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

217-320 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

217-320 (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

2 structures for Q14934

Entry ID	Method	Resolution	Chain	Position	Source
2YRP	NMR	-	A	585-691	PDB
AF-Q14934-F1	Predicted				AlphaFoldDB

791 variants for Q14934

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs779342628 CA7135777	4	A>S		No	ClinGen ExAC gnomAD
CA7135778 rs746379282	7	E>K		No	ClinGen ExAC TOPMed gnomAD
CA389200197 rs1594697505	18	G>R		No	Ensembl ClinGen
CA389200279 rs1331137827	22	E>Q		No	ClinGen TOPMed gnomAD
CA7135781 rs775812863	23	A>G		No	ClinGen ExAC gnomAD
rs772360979 CA7135780	23	A>P		No	ExAC ClinGen
CA257892279 rs772360979	23	A>T		No	ExAC ClinGen
rs768901573 CA257892308	25	P>A		No	ExAC TOPMed gnomAD ClinGen
rs776771220 CA7135784	25	P>L		No	ExAC TOPMed gnomAD ClinGen
rs778613456	25	P>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs768901573 CA7135783	25	P>T		No	ClinGen ExAC TOPMed gnomAD
CA7135786 rs765347154	27	G>D		No	ClinGen ExAC TOPMed gnomAD
rs761811866 CA7135785	27	G>S		No	ExAC gnomAD ClinGen
rs199738451 CA257892347	28	A>G		No	ClinGen TOPMed
CA389200424 rs1437036930	30	G>*		No	gnomAD ClinGen
CA389200428 rs1363509068	30	G>E		No	ClinGen TOPMed
rs1234474064 CA389200455	32	G>A		No	ClinGen TOPMed gnomAD
CA7135788 rs759493691	33	E>K		No	ClinGen ExAC TOPMed gnomAD
CA389201344 rs1301104427	38	E>K		No	ClinGen gnomAD
rs765870415 CA7135840	39	D>N		No	ClinGen ExAC TOPMed gnomAD
rs899114507 CA257893156	39	D>V		No	Ensembl ClinGen
CA389201425 rs1594701356	40	A>P		No	ClinGen Ensembl
CA7135841 rs752102114	40	A>V		No	ExAC gnomAD ClinGen
CA389201469 rs1389407450	41	P>T		No	ClinGen gnomAD
rs748549928 CA7135844	45	R>C		No	ExAC gnomAD ClinGen
rs756375882 CA7135845 COSM698072 COSM1147279	45	R>H	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen cosmic curated NCI-TCGA
rs756375882 CA389201578	45	R>L		No	ClinGen ExAC TOPMed gnomAD
CA7135846 rs778114308	47	A>V		No	ClinGen ExAC gnomAD
rs749513336 CA7135848	48	L>F		No	ExAC gnomAD ClinGen
CA7135849 rs774546991	49	G>E		No	ExAC gnomAD ClinGen
CA389201774 rs1566461365	51	P>A		No	Ensembl ClinGen
TCGA novel	51	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1435188370 CA389201816	52	P>L		No	ClinGen gnomAD
CA389201935 rs1428728032	55	G>R		No	gnomAD ClinGen
rs1171321481 CA389201966	56	A>S		No	ClinGen gnomAD
CA389201960 rs1171321481	56	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	gnomAD ClinGen NCI-TCGA
CA7135852 rs776369397	58	P>S		No	ExAC gnomAD ClinGen
CA257893214 rs761686268	59	I>M		No	ExAC TOPMed gnomAD ClinGen
rs1347983695 CA389202120	60	G>C		No	ClinGen TOPMed gnomAD
rs1347983695 CA389202124	60	G>R		No	TOPMed gnomAD ClinGen
rs1594701639 CA389202171	61	I>V		No	ClinGen Ensembl
CA389202227 rs1280950177 COSM71830	62	P>H	ovary [Cosmic]	No	gnomAD ClinGen cosmic curated
rs765923793 CA7135857	63	R>Q		No	ClinGen ExAC gnomAD
rs1260555053 CA389202317	64	P>L		No	ClinGen gnomAD
CA389202395 rs751093571	66	P>S		No	ExAC TOPMed gnomAD ClinGen
rs751093571 CA7135858	66	P>T		No	ClinGen ExAC TOPMed gnomAD
CA389202417 rs1003261158	67	P>S		No	gnomAD ClinGen
CA257893249 rs1003261158	67	P>T		No	gnomAD ClinGen
CA389202439 rs754416853	68	R>G		No	ClinGen ExAC TOPMed gnomAD
rs959052955 CA257893255	68	R>Q		No	ClinGen Ensembl
CA7135859 rs754416853	68	R>W		No	ClinGen ExAC TOPMed gnomAD
rs146302703 CA7135860	70	G>D		No	ESP ExAC gnomAD ClinGen
CA7135862 rs756563758	71	M>R		No	ClinGen ExAC gnomAD
CA7135861 rs753131154	71	M>V		No	ExAC gnomAD ClinGen
CA389202572 rs1421562080	72	H>L		No	gnomAD ClinGen
rs553959636 CA7135863	72	H>N		No	ClinGen 1000Genomes ExAC gnomAD
CA389202632 rs1169621907	74	P>S		No	ClinGen gnomAD
rs1459207514 CA389202704	75	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs754158946 CA7135864	75	P>T		No	ExAC TOPMed gnomAD ClinGen
CA389202715 rs1364497068	76	P>S		No	TOPMed gnomAD ClinGen
CA389202742 rs1279605760	77	R>L		No	TOPMed gnomAD ClinGen
CA389202737 rs1279605760	77	R>P		No	ClinGen TOPMed gnomAD
CA7135867 rs745953120	78	P>L		No	ClinGen ExAC gnomAD
TCGA novel	79	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7135868 rs771991273	82	P>S		No	ExAC TOPMed gnomAD ClinGen
CA389202944 rs1594701931	84	T>P		No	ClinGen Ensembl
CA257893316 rs775619762	85	W>G		No	ClinGen ExAC gnomAD
rs775619762 CA7135869	85	W>R		No	ClinGen ExAC gnomAD
rs1396376103 CA389203007	86	E>D		No	ClinGen TOPMed
TCGA novel	86	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA389203039 rs1193803065	87	S>R		No	ClinGen TOPMed
rs978215321 CA257893320	89	P>H		No	TOPMed ClinGen
rs978215321 CA389203082	89	P>R		No	ClinGen TOPMed
rs748035963 CA7135870	89	P>T		No	ExAC ClinGen
rs375847212 CA7135873	90	A>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA389203101 rs375847212	90	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs375847212 CA7135874	90	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA7135875 rs773932917	91	R>M		No	ClinGen ExAC gnomAD
rs759139750 CA7135876	91	R>S		No	ExAC gnomAD ClinGen
CA7135877 rs766927800	92	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen NCI-TCGA
CA389203173 rs1475114036	93	V>E		No	ClinGen gnomAD
CA7135879 rs200694133	96	G>E		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA7135880 rs764644853	97	G>V		No	ClinGen ExAC TOPMed gnomAD
CA389203283 rs1425341865	98	P>Q		No	gnomAD ClinGen
rs754283690 CA7135883	100	G>A		No	ExAC gnomAD ClinGen
CA389203339 rs754283690	100	G>E		No	ClinGen ExAC gnomAD
rs757631477 CA389203351	101	G>C		No	ExAC gnomAD ClinGen
rs757631477 CA7135884	101	G>S		No	ClinGen ExAC gnomAD
CA7135885 rs779292099	101	G>V		No	ExAC TOPMed gnomAD ClinGen
CA7135887 rs750661193	102	A>P		No	ClinGen ExAC gnomAD
CA7135886 rs750661193	102	A>S		No	ExAC gnomAD ClinGen
CA389203403 rs1342972959	103	G>R		No	ClinGen gnomAD
rs779970945 CA7135888	104	G>C		No	ExAC TOPMed gnomAD ClinGen
rs779970945 CA389203426	104	G>R		No	ExAC TOPMed gnomAD ClinGen
rs779970945 CA389203429	104	G>S		No	ClinGen ExAC TOPMed gnomAD
CA389203461 rs1381885326	105	A>V		No	gnomAD ClinGen
CA389203491 rs1384456754	107	G>S		No	ClinGen gnomAD
TCGA novel	107	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA257893491 rs920475449	109	R>C		No	ClinGen Ensembl
rs770696760 CA7135894	109	R>H		No	ClinGen ExAC gnomAD
rs770696760 CA389203564	109	R>P		No	ExAC gnomAD ClinGen
CA7135895 rs202021040	111	L>F		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA389203625 rs771660688	112	E>K		No	ClinGen ExAC TOPMed gnomAD
rs771660688 CA7135897	112	E>Q		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	114	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA389203740 rs1054880467	117	R>H		No	TOPMed gnomAD ClinGen
CA257893504 rs1054880467	117	R>L		No	ClinGen TOPMed gnomAD
CA257893519 rs1043106392	121	I>T		No	ClinGen TOPMed
CA389203835 COSM3401266 rs1405291403 COSM3401265 COSM3401264	123	P>S	Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic]	No	gnomAD ClinGen cosmic curated NCI-TCGA
CA389203845 COSM3419748 COSM3419749 rs1399617431 COSM3419747	124	T>M	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	gnomAD ClinGen cosmic curated NCI-TCGA
CA389203866 rs1272249570	125	P>A		No	gnomAD ClinGen
CA7135901 rs547488128	125	P>L		No	1000Genomes ExAC gnomAD ClinGen
rs762327179 CA7135902	126	E>D		No	ClinGen ExAC gnomAD
CA389203883 rs1451151049	126	E>K		No	gnomAD ClinGen
rs374076962 CA257893539	127	P>T		No	ClinGen ESP TOPMed gnomAD
CA389203958 rs1350154364	128	P>L		No	gnomAD ClinGen
CA389203946 rs1350154364	128	P>Q		No	ClinGen gnomAD
CA389203944 rs1278008364	128	P>S		No	gnomAD ClinGen
CA389203986 rs1280907415	130	A>T		No	gnomAD ClinGen
rs200926894 CA7135905	130	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1230830401 CA389204118	135	P>T		No	ClinGen gnomAD
rs1360774788 CA389204153	136	D>A		No	Ensembl ClinGen
rs1489701233 CA389204197	138	W>G		No	Ensembl ClinGen
CA257893575 rs1022380624	138	W>L		No	gnomAD ClinGen
rs766577802 CA7135906	139	G>R		No	ExAC TOPMed gnomAD ClinGen
rs371301060 CA257893594	140	D>E		No	ESP ExAC TOPMed gnomAD ClinGen
rs1253278380	140	D>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1430857355 CA389204247	140	D>Y		No	ClinGen TOPMed gnomAD
CA389205705 rs1401578758	141	G>D		No	gnomAD ClinGen
CA7135909 rs564278195	141	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7135908 rs564278195	141	G>S		No	1000Genomes ExAC TOPMed gnomAD ClinGen
CA389205732 rs999791858	142	S>C		No	ClinGen TOPMed gnomAD
CA257893613 rs999791858	142	S>F		No	TOPMed gnomAD ClinGen
CA389205727 rs999791858	142	S>Y		No	TOPMed gnomAD ClinGen
rs1022909658 CA257893620	143	P>A		No	TOPMed ClinGen
rs1022909658 CA389205738	143	P>S		No	ClinGen TOPMed
rs1335540489 CA389205762	144	R>G		No	gnomAD ClinGen
rs778656702 CA7135912	147	P>A		No	ClinGen ExAC TOPMed gnomAD
CA389205896 rs1222936250	147	P>L		No	ClinGen gnomAD
CA257893648 rs778656702	147	P>T		No	ExAC TOPMed gnomAD ClinGen
rs775138757 CA7135915	148	P>L		No	ClinGen ExAC TOPMed gnomAD
rs775138757 CA7135916	148	P>Q		No	ExAC TOPMed gnomAD ClinGen
rs775138757 CA389205927	148	P>R		No	ClinGen ExAC TOPMed gnomAD
CA257893682 rs955503986	148	P>T		No	ClinGen TOPMed gnomAD
CA389205937 rs1436997054	149	P>S		No	ClinGen gnomAD
rs1270545586 CA389206002	151	G>V		No	gnomAD ClinGen
rs1197996279 CA389206058	153	G>A		No	gnomAD ClinGen
CA389206074 rs1394484444	154	G>A		No	ClinGen TOPMed gnomAD
rs1423706229 CA389206060	154	G>S		No	gnomAD ClinGen
rs549989908 CA7135919	155	Y>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA257893724 rs974079778	156	R>G		No	ClinGen Ensembl
rs1566462613 CA389206186	157	E>D		No	ClinGen Ensembl
CA257893743 rs918602142	158	A>S		No	ClinGen TOPMed gnomAD
CA389206191 rs918602142	158	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	TOPMed gnomAD ClinGen NCI-TCGA
rs1594703088 CA389206213	159	G>E		No	ClinGen Ensembl
CA7135922 rs2229309 VAR_046985	160	G>A		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen UniProt dbSNP
CA389206232 rs2229309	160	G>D		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA7135921 rs765749977	160	G>R		No	ClinGen ExAC gnomAD
rs1342422040 CA389206256	161	Q>*		No	gnomAD ClinGen
CA389206306 rs1268299794	162	G>D		No	gnomAD ClinGen
rs763340822 CA7135923	162	G>S		No	ClinGen ExAC gnomAD
CA7135928 rs767549810	163	G>A		No	ClinGen ExAC TOPMed gnomAD
CA7135927 rs374228196 CA7135926	163	G>R		No	ClinGen ExAC TOPMed gnomAD
rs374228196 CA7135925	163	G>W		No	ExAC TOPMed gnomAD ClinGen
CA389206356 rs1446941992	164	G>E		No	TOPMed ClinGen
rs751744912	165	A>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA389206366 rs1043942879	165	A>P		No	TOPMed gnomAD ClinGen
CA257893773 rs1043942879	165	A>S		No	TOPMed gnomAD ClinGen
rs1158428439 CA389206386	166	F>L		No	TOPMed ClinGen
CA7135929 rs753821243	167	F>Y		No	ClinGen ExAC gnomAD
rs757207936 CA7135930	170	S>N		No	ExAC gnomAD ClinGen
rs778868358 CA7135931	172	G>C		No	ExAC gnomAD ClinGen
CA7135932 rs143052500	174	S>R		No	ESP ExAC gnomAD ClinGen
rs758156068 CA7135933	178	S>L		No	ExAC gnomAD ClinGen
rs1566462864 CA389207079	184	D>G		No	ClinGen Ensembl
CA7135936 rs746669832	184	D>H		No	ClinGen ExAC gnomAD
rs2228233 CA389207246	187	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA389207296 rs1380567179	189	A>T		No	gnomAD ClinGen
CA7135938 rs564142847	189	A>V		No	ClinGen ExAC gnomAD
CA389207364 rs1325726733	190	A>V		No	gnomAD ClinGen
CA389207430 rs1245414986	192	Y>C		No	gnomAD ClinGen
rs1244851222 CA389207671	196	D>E		No	ClinGen gnomAD
CA7135939 rs747615604	196	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC gnomAD ClinGen NCI-TCGA
CA389207706 rs1337029856	197	E>D		No	gnomAD ClinGen
TCGA novel	197	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs770457436 CA257893830	198	V>L		No	ClinGen ExAC TOPMed gnomAD
CA7135940 rs770457436	198	V>M		No	ExAC TOPMed gnomAD ClinGen
TCGA novel	199	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1202781754 CA389208009	205	A>E		No	TOPMed gnomAD ClinGen
rs1202781754 CA389208020	205	A>V		No	ClinGen TOPMed gnomAD
CA389208056 rs1443554122	206	A>V		No	ClinGen gnomAD
CA7135942 rs763283132	207	S>F		No	ExAC gnomAD ClinGen
COSM183575 rs939191955 CA389208101	208	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	TOPMed gnomAD ClinGen cosmic curated NCI-TCGA
CA257893857 rs939191955	208	R>G		No	ClinGen TOPMed gnomAD
rs148765202 CA7135943	208	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA389208094 rs939191955	208	R>S		No	ClinGen TOPMed gnomAD
rs1566463095 CA389208258	212	G>A		No	ClinGen Ensembl
TCGA novel	213	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs759727859 CA7135945	214	P>L		No	ClinGen ExAC gnomAD
CA389208404 rs1338597261	215	L>M		No	ClinGen gnomAD
CA389208449 rs1566463141	215	L>P		No	Ensembl ClinGen
rs1055374659 CA257893908	216	P>L		No	ClinGen Ensembl
rs1055374659 CA257893907	216	P>R		No	Ensembl ClinGen
TCGA novel	216	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM1217196 COSM1217195 CA389208538 rs1451591898	217	S>L	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
CA389208561 rs1236412015	218	P>L		No	gnomAD ClinGen
CA389208554 rs1318283969	218	P>S		No	ClinGen gnomAD
CA389208598 rs765097596	219	R>L		No	ExAC gnomAD ClinGen
CA7135949 rs765097596	219	R>P		No	ExAC gnomAD ClinGen
CA257893920 rs376016567	219	R>W		No	ClinGen ESP TOPMed gnomAD
CA257893979 rs1043368229	222	P>A		No	gnomAD ClinGen
CA389208656 rs1043368229	222	P>S		No	ClinGen gnomAD
rs1417627430 CA389208695	223	R>Q		No	gnomAD ClinGen
CA7135954 rs150527849	223	R>W		No	ESP ExAC TOPMed gnomAD ClinGen
rs1181324446 CA389208742	224	P>L		No	gnomAD ClinGen
CA389208779 rs1378329756	225	W>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs750322442 CA257894007	225	W>R		No	ClinGen Ensembl
rs1470968161 CA389208835	226	T>A		No	ClinGen gnomAD
CA7135955 rs140402036	226	T>N		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs1470968161 CA389208823	226	T>P		No	ClinGen gnomAD
rs1393367804 CA389208920	227	P>R		No	ClinGen TOPMed
TCGA novel	228	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7135956 rs747668845	228	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC gnomAD ClinGen NCI-TCGA
CA389209023 rs534048410	230	P>A		No	1000Genomes ExAC gnomAD ClinGen
rs534048410 CA7135957	230	P>S		No	ClinGen 1000Genomes ExAC gnomAD
CA7135958 rs778207783	232	S>N		No	ClinGen ExAC gnomAD
CA7135959 rs749768884 CA389209156	232	S>R		No	ExAC TOPMed gnomAD ClinGen
rs370335399 CA7135962	237	S>R		No	ESP ExAC TOPMed gnomAD ClinGen
rs1566463388 CA389209472	239	G>E		No	Ensembl ClinGen
CA7135964 rs775629255	241	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1253493433 CA389209612	243	P>T		No	ClinGen gnomAD
TCGA novel	244	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs760804719 CA7135965	245	D>E		No	ExAC gnomAD ClinGen
CA7135966 VAR_046986 rs2228231	246	S>N		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen UniProt dbSNP
rs139503019 CA257894065	249	L>F		No	ESP ClinGen
rs1007022312 CA257894092	250	L>I		No	ClinGen Ensembl
CA389209904 rs1481462012	250	L>R		No	gnomAD ClinGen
rs1428663921 CA389209975	252	A>P		No	ClinGen TOPMed gnomAD
rs1428663921 CA389209971	252	A>T		No	TOPMed gnomAD ClinGen
TCGA novel	252	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs766182137 CA7135969	255	P>L		No	ExAC gnomAD ClinGen
rs972744763 CA257894112	256	T>P		No	ClinGen Ensembl
CA7135970 rs576919529	257	P>S		No	1000Genomes ExAC gnomAD ClinGen
CA389210204 rs1594704218	258	A>S		No	Ensembl ClinGen
rs754755826 CA7135971	258	A>V		No	ClinGen ExAC TOPMed gnomAD
rs781008744 CA257894142	260	P>L		No	ExAC TOPMed gnomAD ClinGen
CA7135972 rs781008744	260	P>Q		No	ExAC TOPMed gnomAD ClinGen
rs748694230 CA7135976	261	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs755617374 CA7135975	261	R>W		No	ExAC TOPMed gnomAD ClinGen
CA389210430 rs1215721517	263	A>D		No	ClinGen gnomAD
TCGA novel	263	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	264	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA389210458 rs746242895	265	P>A		No	ClinGen ExAC gnomAD
rs746242895 CA7135979	265	P>S		No	ClinGen ExAC gnomAD
CA389210490 rs1292797542	266	C>G		No	ClinGen gnomAD
CA389210487 rs1292797542	266	C>R		No	ClinGen gnomAD
CA7135982 rs760857991	273	S>N		No	ExAC gnomAD ClinGen
CA389210930 rs1421490567	276	T>N		No	ClinGen gnomAD
CA389210896 rs1594704442	276	T>P		No	Ensembl ClinGen
rs145126892 CA7135986	280	A>P		No	ESP ExAC TOPMed gnomAD ClinGen
rs145126892 CA7135985	280	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA7135987 rs774375150	280	A>V		No	ExAC TOPMed gnomAD ClinGen
CA7135988 rs759464719	281	S>F		No	ExAC gnomAD ClinGen
TCGA novel	282	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7135989 rs766646108	282	P>S		No	ClinGen ExAC TOPMed gnomAD
rs751915801 CA257894251	284	L>Q		No	gnomAD ClinGen
rs752444035 CA7135990	285	S>P		No	ClinGen ExAC TOPMed gnomAD
CA257894263 rs955445198	286	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs955445198 CA389211314	286	R>P		No	ClinGen TOPMed gnomAD
rs755808600 CA7135992	287	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA7135991 COSM552879 rs755808600 COSM1140497	287	R>S	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen cosmic curated NCI-TCGA
CA389211393 rs1409886650	288	G>D		No	ClinGen gnomAD
rs1442550666 CA389211434	289	S>I		No	ClinGen TOPMed
rs1291247095 CA389211485	291	G>R		No	ClinGen gnomAD
rs533502621 CA257894265	292	E>A		No	Ensembl ClinGen
CA389211503 rs1317600396	292	E>K		No	ClinGen gnomAD
CA389211588 rs1212445199	294	G>E		No	ClinGen TOPMed
CA389211604 rs756661952	295	S>A		No	ClinGen ExAC gnomAD
CA7135994 rs756661952	295	S>T		No	ExAC gnomAD ClinGen
CA389211648 rs1484891401	297	P>T		No	ClinGen gnomAD
CA7135995 rs779453735	298	P>L		No	ClinGen ExAC gnomAD
CA389211698 rs1185829799	298	P>S		No	ClinGen gnomAD
CA7135996 rs200059234	299	P>S	Variant assessed as Somatic; 0.0007022 impact. [NCI-TCGA]	No	1000Genomes ExAC TOPMed gnomAD ClinGen NCI-TCGA
rs1566463865 CA389211763	300	P>L		No	ClinGen Ensembl
CA7135998 rs780374843	302	P>A		No	ExAC gnomAD ClinGen
CA389211797 rs780374843	302	P>S		No	ClinGen ExAC gnomAD
COSM140721 rs747288091 CA7135999	304	P>L	skin [Cosmic]	No	ExAC TOPMed gnomAD ClinGen cosmic curated
TCGA novel	306	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1354074166 CA389211910	306	A>T		No	ClinGen TOPMed
CA7136000 rs768957495	306	A>V		No	ClinGen ExAC gnomAD
rs576702065 CA257894297	307	R>L		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs576702065 CA7136001	307	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs981442583 CA257894295	307	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs748276093 CA7136002	308	D>H		No	ExAC gnomAD ClinGen
rs748276093 CA257894301	308	D>N		No	ExAC gnomAD ClinGen
rs769984138 CA7136003	309	P>L		No	ClinGen ExAC gnomAD
CA389212000 rs1225683372	311	S>T		No	ClinGen gnomAD
TCGA novel	312	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs774467153 CA389212038	313	G>R		No	ClinGen ExAC gnomAD
rs774467153 CA7136004	313	G>S		No	ExAC gnomAD ClinGen
rs201320818 CA389212062	314	P>L		No	1000Genomes ExAC TOPMed gnomAD ClinGen
CA7136005 rs201320818	314	P>R		No	1000Genomes ExAC TOPMed gnomAD ClinGen
CA257894356 rs1043475370	315	F>L		No	ClinGen TOPMed
CA7136006 rs767509332	316	D>E		No	ExAC gnomAD ClinGen
rs1462489154 CA389212101	317	Y>H		No	ClinGen gnomAD
CA7136007 rs775453007	319	G>E		No	ExAC gnomAD ClinGen
CA7136010 rs146803212	322	P>L		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs763820472 CA7136009	322	P>S		No	ClinGen ExAC TOPMed gnomAD
rs763820472 CA389212184	322	P>T		No	ExAC TOPMed gnomAD ClinGen
rs1183594520 CA389212213	324	E>A		No	TOPMed ClinGen
rs1408869601 CA389212230	325	S>G		No	ClinGen gnomAD
CA7136012 rs764696807	325	S>N		No	ClinGen ExAC gnomAD
rs1472801668 CA389212244	325	S>R		No	TOPMed ClinGen
CA389212256 rs1336566595	326	I>F		No	gnomAD ClinGen
CA389212296 rs1249826959	328	Q>E		No	ClinGen gnomAD
rs1201942276 CA389212402	332	R>Q		No	ClinGen TOPMed
rs755244684 CA7136017	335	S>C		No	ClinGen ExAC gnomAD
CA7136018 rs781536985	335	S>R		No	ClinGen ExAC TOPMed gnomAD
rs140616415 CA7136019	336	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA389212537 rs1333238992	337	Q>*		No	TOPMed ClinGen
TCGA novel	337	Q>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1438159794 CA389212614	340	A>S		No	ClinGen gnomAD
rs879139888 CA257894447	342	P>S		No	ClinGen Ensembl
rs749336968 CA389212694	343	R>P		No	ExAC gnomAD ClinGen
CA7136022 rs749336968	343	R>Q		No	ClinGen ExAC gnomAD
CA389212686 rs1471987402	343	R>W		No	gnomAD ClinGen
CA257894490 rs1050753964	344	S>C		No	Ensembl ClinGen
CA7136023 rs200197248	345	E>D		No	ESP ExAC TOPMed gnomAD ClinGen
rs1277887603 CA389212756	345	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	TOPMed ClinGen NCI-TCGA
CA389212830 rs1479768462	346	E>G		No	gnomAD ClinGen
rs760576477 CA7136025	348	A>V		No	ExAC ClinGen
rs768330456 CA7136026	349	S>L		No	ClinGen ExAC TOPMed gnomAD
CA7136027 rs28365129	350	C>R		No	ClinGen ExAC gnomAD
CA389213074 rs1566464391	351	N>K		No	ClinGen Ensembl
rs1327111065 CA389213128	352	G>A		No	ClinGen gnomAD
CA257894536 rs1007569041	355	P>L		No	ClinGen Ensembl
rs1414890271 CA389213254	356	L>V		No	ClinGen gnomAD
rs267603969 CA257894559	357	G>R		No	ClinGen Ensembl
rs1325549962 CA389213325	358	A>S		No	TOPMed ClinGen
rs1405765959 CA389213346	358	A>V		No	ClinGen gnomAD
rs761351694 CA7136028	359	E>G		No	ClinGen ExAC gnomAD
rs764821739 CA7136029	360	E>G		No	ClinGen ExAC gnomAD
rs1343684795 CA389213413	360	E>K		No	gnomAD ClinGen
rs1274122489 CA389213530	361	S>A		No	ClinGen gnomAD
CA257894586 rs905702316	362	V>A		No	TOPMed gnomAD ClinGen
rs753201262 CA257894579	362	V>L		No	Ensembl ClinGen
rs749967304 CA7136030	363	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1216036332 CA389213669	364	P>L		No	TOPMed gnomAD ClinGen
rs766889405 CA7136032	366	G>E		No	ClinGen ExAC gnomAD
rs1018558602 CA257894616	367	G>C		No	gnomAD ClinGen
CA389213731 rs1018558602	367	G>S		No	ClinGen gnomAD
rs755440036 CA7136034	368	S>Y		No	ExAC TOPMed gnomAD ClinGen
TCGA novel	368	S>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7136036 rs753054199	369	R>P		No	ClinGen ExAC TOPMed gnomAD
CA7136037 rs753054199	369	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs898643666 CA257894629	369	R>W		No	ClinGen gnomAD
rs1168849339 CA389213834	370	K>E		No	ClinGen gnomAD
rs1594705722 CA389213937	372	V>G		No	ClinGen Ensembl
rs778071519 CA7136038	373	A>T		No	ClinGen ExAC gnomAD
CA7136039 rs749390935	374	G>R		No	ClinGen ExAC gnomAD
TCGA novel	377	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs995729372 CA257894643	383	P>Q		No	ClinGen gnomAD
rs780104322 CA7136041	383	P>S		No	ClinGen ExAC gnomAD
rs200325730 CA7136045	385	A>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200325730 CA7136044	385	A>T		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs769441467 CA7136046	385	A>V		No	ClinGen ExAC TOPMed gnomAD
CA389214475 rs1268244046	388	K>E		No	gnomAD ClinGen
rs368939796 CA7136047	389	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs141855863 CA7136048	390	R>Q		No	ESP ExAC TOPMed gnomAD ClinGen
rs1267632572 CA389214548	390	R>W		No	ClinGen TOPMed
CA389214573 rs765805909	391	I>L		No	ExAC TOPMed gnomAD ClinGen
CA7136050 rs752150894	391	I>T		No	ExAC gnomAD ClinGen
CA7136049 rs765805909	391	I>V		No	ExAC TOPMed gnomAD ClinGen
CA389214643 rs1261796907	393	G>V		No	gnomAD ClinGen
CA7136053 rs372629167	395	S>R		No	ESP ExAC TOPMed gnomAD ClinGen
CA389214769 rs1247848838	396	P>R		No	gnomAD ClinGen
rs754161105 CA7136074	400	T>I		No	ExAC TOPMed ClinGen
CA389217081 rs1594709860	400	T>P		No	Ensembl ClinGen
CA389217167 rs1338533217	402	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	TOPMed gnomAD ClinGen NCI-TCGA
CA7136076 rs765459278	405	P>Q		No	ExAC gnomAD ClinGen
rs1400380508 CA389217378	408	W>C		No	ClinGen TOPMed
CA389217713 rs1185106644	414	Y>C		No	ClinGen TOPMed gnomAD
CA7136081 rs368162484	415	E>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs749039103 CA7136083	416	Q>K		No	ExAC gnomAD ClinGen
rs773994849 CA7136085	418	E>D		No	ClinGen ExAC TOPMed gnomAD
CA7136087 rs771605504	422	E>K		No	ClinGen ExAC gnomAD
rs150267620 CA7136088	423	V>I		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs150267620 CA389218024	423	V>L		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs761241747 CA389218141	427	A>D		No	ExAC gnomAD ClinGen
CA257898196 rs978902180	427	A>T		No	ClinGen TOPMed gnomAD
CA7136089 rs761241747	427	A>V		No	ExAC gnomAD ClinGen
rs1594710145 CA389218171	428	H>P		No	ClinGen Ensembl
rs1276144310 CA389218182	428	H>Q		No	ClinGen TOPMed
rs1594710155 CA389218214	429	H>P		No	Ensembl ClinGen
rs1324725522 CA389218241	430	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	TOPMed ClinGen NCI-TCGA
CA7136092 rs762172509	432	H>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC gnomAD ClinGen NCI-TCGA
CA389218354 rs1217356897	434	E>D		No	TOPMed ClinGen
CA389218348 rs1298398231	434	E>V		No	ClinGen gnomAD
rs765393582 CA7136093	437	G>D		No	ExAC gnomAD ClinGen
rs1407599578 CA389218457	439	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	gnomAD ClinGen NCI-TCGA
CA389218466 rs1306918023	439	R>L		No	ClinGen gnomAD
rs1345572204 CA389218473	440	G>R		No	TOPMed gnomAD ClinGen
rs758476872 CA7136095	445	A>D		No	ExAC gnomAD ClinGen
rs750647809 CA7136094	445	A>T		No	ClinGen ExAC TOPMed gnomAD
rs373337764 CA7136096	447	G>D		No	ESP ExAC TOPMed gnomAD ClinGen
CA7136098 rs756073934	448	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen NCI-TCGA
COSM1369389 CA7136100 COSM1369388 rs138954014	451	V>I	Variant assessed as Somatic; 4.624e-05 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA7136121 rs529403337	454	L>V		No	1000Genomes ExAC gnomAD ClinGen
rs779787846 CA7136123	455	L>I		No	ClinGen ExAC gnomAD
CA389219159 rs1434736125	456	G>D		No	gnomAD ClinGen
rs1053965416 CA257898873	456	G>S		No	ClinGen TOPMed
rs1316009708 CA389219172	457	Y>C		No	gnomAD ClinGen
CA7136125 rs768269997	458	S>N		No	ExAC gnomAD ClinGen
rs1289292550 CA389219213	458	S>R		No	ClinGen gnomAD
CA257898908 rs868229357	461	P>T		No	ClinGen Ensembl
CA389219329 rs748660447	462	L>M		No	ExAC TOPMed gnomAD ClinGen
CA7136128 rs377224735	463	T>A		No	ClinGen ESP ExAC gnomAD
CA389219366 rs1361130935	463	T>I		No	ClinGen TOPMed
CA389219361 rs1361130935	463	T>N		No	TOPMed ClinGen
TCGA novel	466	M>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA389219556 rs1207944361	470	T>S		No	ClinGen gnomAD
rs1392509440 CA389219691	475	N>K		No	TOPMed ClinGen
CA389219723 rs1426701796	477	R>Q		No	TOPMed ClinGen
rs763157014 CA7136130	477	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs975217997 CA257898933	483	Q>R		No	ClinGen Ensembl
rs771150744 CA7136131	486	R>C		No	ClinGen ExAC TOPMed gnomAD
rs774541003 CA7136132	486	R>H		No	ExAC gnomAD ClinGen
rs759676539 CA7136133	488	T>I		No	ExAC gnomAD ClinGen
CA7136134 rs767551892	489	G>S		No	ExAC TOPMed gnomAD ClinGen
CA7136135 rs149390527	494	T>M		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
TCGA novel	495	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA389220180 rs1408718803	497	Y>*		No	ClinGen gnomAD
rs1337877946 CA389220153	497	Y>H		No	ClinGen gnomAD
CA7136138 rs750238324	499	A>D		No	ExAC gnomAD ClinGen
rs765044236 CA7136137	499	A>T		No	ClinGen ExAC gnomAD
CA389220271 rs1215472221	500	V>A		No	TOPMed ClinGen
rs766194904 CA7136140	500	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen NCI-TCGA
rs1348933339 CA389220389	503	G>S		No	TOPMed ClinGen
rs1594712357 CA389220523	506	V>G		No	ClinGen Ensembl
CA389220604 rs1327078620	508	E>D		No	gnomAD ClinGen
TCGA novel	509	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1227679756 CA389220721	513	P>A		No	gnomAD ClinGen
rs1594712414 CA389220773	515	N>S		No	Ensembl ClinGen
CA7136141 rs77893724	516	N>H		No	1000Genomes ExAC TOPMed gnomAD ClinGen
CA7136142 rs754578072	516	N>S		No	ExAC gnomAD ClinGen
rs780733914 CA7136143	517	M>T		No	ExAC gnomAD ClinGen
TCGA novel	518	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7136144 rs144789611	518	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA7136160 rs372251932	523	C>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ESP ExAC gnomAD ClinGen NCI-TCGA
rs755562231 CA7136162	524	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA7136163 rs778408359 COSM183577	524	A>V	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	530	R>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1594713196 CA389221505	530	R>Q		No	ClinGen Ensembl
CA7136166 rs140124494	530	R>W		No	ClinGen ESP ExAC gnomAD
CA389221516 rs1407667258	531	N>D		No	ClinGen TOPMed
rs1332815650 CA389221678	534	I>T		No	ClinGen gnomAD
CA7136169 COSM698070 rs775517670 COSM1147281	537	R>Q	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA7136168 rs772343312	537	R>W		No	ExAC gnomAD ClinGen
rs1566467886 CA389221797	538	K>E		No	ClinGen Ensembl
TCGA novel	540	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7136171 rs142749204	541	T>M		No	ESP ExAC TOPMed gnomAD ClinGen
rs773243252 CA7136172	543	I>F		No	ExAC gnomAD ClinGen
rs1392510451 CA389222022	543	I>N		No	TOPMed gnomAD ClinGen
TCGA novel	545	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7136174 rs372002281	545	R>H		No	ClinGen ExAC TOPMed gnomAD
CA389222235 rs1451677725	549	R>C		No	TOPMed gnomAD ClinGen
rs1004932777 CA257899372	549	R>H		No	TOPMed ClinGen
CA389222292 rs1186911830	551	R>W		No	gnomAD ClinGen
CA7136175 rs774322080	553	V>G		No	ClinGen ExAC gnomAD
TCGA novel	553	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1372714134 CA389222488	555	R>Q		No	gnomAD ClinGen
rs1425517328 CA389222482	555	R>W		No	TOPMed gnomAD ClinGen
CA389222537 rs1594713465	556	V>G		No	ClinGen Ensembl
CA389222503 rs1165139939	556	V>I		No	ClinGen gnomAD
rs767254119 CA389222587	557	H>Q		No	ExAC TOPMed gnomAD ClinGen
CA7136176 rs759341999	557	H>Y		No	ClinGen ExAC gnomAD
CA7136179 CA7136178 rs374808156	558	V>L		No	ESP ExAC ClinGen
TCGA novel	558	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA257899389 rs147385533	560	Q>H		No	ESP ClinGen
CA7136182 rs757790727	562	G>S		No	ExAC TOPMed gnomAD ClinGen
rs779325479 CA7136183	562	G>V		No	ClinGen ExAC gnomAD
COSM1140500 COSM552876 CA7136185 rs372741212	563	G>R	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs966630689 CA257899426	565	V>F		No	TOPMed gnomAD ClinGen
rs1594713612 CA389222809	565	V>G		No	ClinGen Ensembl
CA7136187 rs56375538	566	V>I		No	ClinGen ExAC TOPMed gnomAD
rs377261658 CA257899454	567	S>A		No	ClinGen TOPMed
CA257899465 rs926989284	568	V>I		No	ClinGen TOPMed
TCGA novel	569	Q>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs748202233 CA7136190	570	A>T		No	ClinGen ExAC gnomAD
CA389222972 rs1594713703	571	A>G		No	ClinGen Ensembl
CA7136192 rs774413775	574	P>A		No	ExAC gnomAD ClinGen
rs774413775 CA7136193	574	P>S		No	ExAC gnomAD ClinGen
rs769390142 CA7136238	578	S>C		No	ExAC gnomAD ClinGen
rs370444869 CA7136196	578	S>P		No	ESP ExAC TOPMed gnomAD ClinGen
TCGA novel	579	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7136240 rs762460806	580	R>C		No	ExAC TOPMed gnomAD ClinGen
CA257899938 rs374847716 COSM217063	580	R>H	liver [Cosmic]	No	ClinGen cosmic curated ESP
rs1269811120 CA389224902	584	E>D		No	ClinGen TOPMed gnomAD
rs767378362 CA257899943	585	L>M		No	ClinGen Ensembl
rs1422462684 CA389224956	586	P>L		No	TOPMed ClinGen
TCGA novel	586	P>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1369947451 CA389225186	590	A>G		No	TOPMed ClinGen
CA389225246 rs1237639100	592	S>N		No	gnomAD ClinGen
CA7136245 CA7136244 rs528592010	592	S>R		No	ClinGen 1000Genomes ExAC gnomAD
rs756434197 CA7136246	593	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA
rs764343936 CA7136247	594	S>I		No	ExAC gnomAD ClinGen
rs1254826152 CA389225351	594	S>R		No	gnomAD ClinGen
CA7136248 rs753887512	595	A>V		No	ClinGen ExAC TOPMed
TCGA novel	596	C>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1248418064 CA389225443	597	S>F		No	TOPMed ClinGen
CA7136249 rs757338006	597	S>P		No	ExAC gnomAD ClinGen
CA389225455 rs1410252691	598	V>M		No	ClinGen gnomAD
CA7136250 rs779897214	599	R>T		No	ExAC gnomAD ClinGen
CA389225502 rs1177071951	600	G>*		No	ClinGen gnomAD
rs148475720 CA7136252	602	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA389225614 rs1290527250	603	E>G		No	TOPMed ClinGen
rs747869413 CA7136254	604	L>Q		No	ClinGen ExAC gnomAD
rs1410391990 CA389225685	605	V>A		No	gnomAD ClinGen
rs142518531 CA389225692	606	L>M		No	ClinGen ESP ExAC gnomAD
CA257900008 rs1050666423	607	T>I		No	ClinGen gnomAD
CA389225771 rs1050666423	607	T>S		No	gnomAD ClinGen
CA389225823 rs1313625373	608	G>D		No	ClinGen gnomAD
CA7136257 rs748794354	609	S>T		No	ClinGen ExAC gnomAD
rs1483072740 CA389225872	610	N>K		No	ClinGen gnomAD
CA7136258 rs770475098	610	N>S		No	ClinGen ExAC gnomAD
rs1315651457 CA389226006	614	D>H		No	TOPMed ClinGen
CA7136259 rs774781557	616	K>T		No	ClinGen ExAC gnomAD
CA389226133 rs1594715845	617	V>G		No	ClinGen Ensembl
rs1427673572 CA389226161	618	V>L		No	ClinGen gnomAD
rs139623648 CA7136262	620	I>T		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs772642910 CA7136261	620	I>V		No	ClinGen ExAC gnomAD
CA257900051 rs149708694	621	E>Q		No	ClinGen ESP
rs567264047 CA7136263	622	R>K		No	ClinGen 1000Genomes ExAC gnomAD
CA7136264 rs764273553	623	G>S		No	ClinGen ExAC gnomAD
CA257901094 rs773904881	626	G>A		No	TOPMed gnomAD ClinGen
CA389226895 rs773904881	626	G>E		No	ClinGen TOPMed gnomAD
rs1338134898 CA389226973	629	Q>*		No	ClinGen gnomAD
rs1210964714 CA389227018	630	W>*		No	gnomAD ClinGen
rs1266231654 CA389227012	630	W>*		No	TOPMed ClinGen
CA389226989 rs1483174921	630	W>G		No	ClinGen TOPMed
CA389227006 rs1483174921	630	W>R		No	ClinGen TOPMed
rs1292580377 CA389227051	631	E>K		No	ClinGen gnomAD
rs1292580377 CA389227079	631	E>Q		No	ClinGen gnomAD
rs943243175 CA257901100	632	E>Q		No	ClinGen TOPMed gnomAD
rs1037405338 CA257901102	638	R>Q		No	ClinGen gnomAD
CA389227246 rs1594718670	639	L>R		No	ClinGen Ensembl
rs1186853598 CA389227293	641	S>R		No	ClinGen gnomAD
CA389227331 rs1473127248	643	E>K		No	gnomAD ClinGen
rs1352959849 CA389229199	644	V>M		No	ClinGen gnomAD
rs45570732 CA7136304	645	T>M		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs1594719434 CA389229245	647	T>P		No	Ensembl ClinGen
rs1346029228 CA389229292	650	V>A		No	gnomAD ClinGen
CA257901382 rs867853773	651	P>S		No	Ensembl ClinGen
rs753691970 CA7136309	652	E>A		No	ExAC gnomAD ClinGen
rs1392389031 CA389229342	654	S>C		No	ClinGen TOPMed
rs756982644 CA7136310	654	S>I		No	ExAC TOPMed gnomAD ClinGen
rs1472754397 CA389229438	657	R>K		No	TOPMed ClinGen
CA257901397 rs868502619	657	R>S		No	ClinGen gnomAD
CA7136311 rs765024566	658	V>I		No	ExAC TOPMed gnomAD ClinGen
CA7136314 rs201492289	660	R>Q		No	ExAC TOPMed gnomAD ClinGen
CA7136313 rs199766839	660	R>W		No	1000Genomes ExAC TOPMed gnomAD ClinGen
CA389229517 rs1173932684	661	P>Q		No	gnomAD ClinGen
CA389229541 rs1594719599	662	V>G		No	Ensembl ClinGen
CA257901440 rs929036477	664	V>F		No	ClinGen Ensembl
rs1594719623 CA389229591	664	V>G		No	Ensembl ClinGen
CA7136315 rs746437513	669	S>F		No	ClinGen ExAC gnomAD
CA7136316 rs755539100	670	N>H		No	ClinGen ExAC TOPMed gnomAD
CA7136317 rs143222485	670	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7136319 rs201486973	672	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs748592990 CA7136318	672	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA389229750 rs1331992120	673	R>K		No	gnomAD ClinGen
CA7136320 rs773487308	674	K>N		No	ExAC gnomAD ClinGen
COSM955055 COSM1152714 rs1206040088 CA389229818	675	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	gnomAD ClinGen cosmic curated NCI-TCGA
CA7136321 rs749530059	675	R>S		No	ClinGen ExAC TOPMed gnomAD
CA389229898 rs771078914	677	P>L		No	ExAC gnomAD ClinGen
CA7136322 rs771078914	677	P>R		No	ExAC gnomAD ClinGen
rs1215012932 CA389229882	677	P>S		No	TOPMed ClinGen
rs774447885 CA7136323	678	T>A		No	ClinGen ExAC TOPMed gnomAD
CA7136324 rs374713704	678	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs369894212 CA7136325	679	Q>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs1433492407 CA389229979	680	S>G		No	gnomAD ClinGen
CA257901507 rs758112601	680	S>N		No	ClinGen TOPMed gnomAD
CA7136326 rs776402310	681	F>L		No	ClinGen ExAC gnomAD
CA7136327 rs761735455	682	R>S		No	ExAC gnomAD ClinGen
rs751137455 CA7136349	686	V>A		No	ExAC gnomAD ClinGen
rs55800160 CA257901758	690	E>K		No	Ensembl ClinGen
rs766919505 CA7136351	691	E>D		No	ExAC gnomAD ClinGen
rs759149834 CA7136350	691	E>K		No	ExAC TOPMed gnomAD ClinGen
TCGA novel	692	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7136353 rs756648728	694	P>L		No	ExAC gnomAD ClinGen
CA389230623 rs756648728	694	P>R		No	ClinGen ExAC gnomAD
CA7136352 rs201939345	694	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA389230611 rs201939345	694	P>T		No	ESP ExAC TOPMed gnomAD ClinGen
CA389230662 rs1417593660	695	D>A		No	gnomAD ClinGen
CA389230656 rs1477190225	695	D>H		No	ClinGen TOPMed
rs574642161 CA7136355	696	S>L		No	ClinGen 1000Genomes ExAC gnomAD
CA389230771 rs1161815060	697	S>F		No	ClinGen gnomAD
rs1244749856 CA389230762	697	S>P		No	TOPMed ClinGen
CA389230761 rs1244749856	697	S>T		No	TOPMed ClinGen
rs868676710 CA257901761	698	L>Q		No	Ensembl ClinGen
rs779263903 CA7136357	699	R>Q		No	ExAC gnomAD ClinGen
rs149129975 CA7136356	699	R>W		No	ESP ExAC TOPMed gnomAD ClinGen
rs1291289056 CA389230970	704	A>P		No	ClinGen gnomAD
CA7136360 rs780001777	705	S>L		No	ExAC TOPMed gnomAD ClinGen
rs1354728816 CA389231009	705	S>P		No	ClinGen gnomAD
CA7136362 rs769873433	706	A>T		No	ExAC gnomAD ClinGen
CA389231134 rs1206222607	707	T>N		No	ClinGen TOPMed
rs762878952 CA7136364	708	P>L		No	ClinGen ExAC gnomAD
rs773260059 CA7136363	708	P>T		No	ExAC gnomAD ClinGen
rs770843473 CA7136365	709	F>V		No	ClinGen ExAC gnomAD
rs1184839804 CA389231356	713	M>I		No	ClinGen gnomAD
CA7136368 rs767162235	713	M>R		No	ExAC TOPMed gnomAD ClinGen
rs74036618 CA7136369	714	D>G		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA257901871 rs938979211	716	S>L		No	Ensembl ClinGen
rs760158882 CA257901872	717	P>L		No	ClinGen ExAC TOPMed gnomAD
CA7136370 rs760158882	717	P>Q		No	ExAC TOPMed gnomAD ClinGen
rs1432881814 CA389231515	718	P>L		No	ClinGen gnomAD
TCGA novel	719	R>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA389231583 rs754339452	720	P>S		No	ClinGen ExAC gnomAD
CA7136372 rs754339452	720	P>T		No	ExAC gnomAD ClinGen
rs577116857 CA7136373	721	P>L		No	1000Genomes ExAC gnomAD ClinGen
CA257901901 rs1014241753	722	Y>C		No	ClinGen TOPMed
CA389231686 rs1014241753	722	Y>S		No	TOPMed ClinGen
rs779158673 CA257901920	723	P>S		No	ExAC TOPMed gnomAD ClinGen
CA7136374 rs779158673	723	P>T		No	ClinGen ExAC TOPMed gnomAD
CA389231768 rs1370853086	724	S>C		No	ClinGen gnomAD
TCGA novel	724	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs758578575 CA7136376	725	Y>N		No	ExAC gnomAD ClinGen
CA389231856 rs1301461157	726	P>S		No	gnomAD ClinGen
rs780273993 CA7136377	727	H>P		No	ClinGen ExAC gnomAD
rs984131194 CA389232002	729	D>A		No	ClinGen TOPMed gnomAD
rs984131194 CA257901951	729	D>G		No	TOPMed gnomAD ClinGen
COSM1477516 COSM1477515 rs141569636 CA389232122	732	C>*	Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic]	No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen cosmic curated NCI-TCGA
rs755075807 CA7136379	733	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC gnomAD ClinGen NCI-TCGA
CA7136382 rs770839133	739	E>D		No	ClinGen ExAC gnomAD
rs749222520 CA7136381	739	E>G		No	ExAC gnomAD ClinGen
CA257901988 COSM108244 rs148775182	739	E>K	skin [Cosmic]	No	Ensembl ClinGen cosmic curated
CA7136384 rs562487435	740	G>A		No	1000Genomes ExAC TOPMed gnomAD ClinGen
CA7136383 rs774017861	740	G>S		No	ExAC TOPMed gnomAD ClinGen
CA7136385 rs562487435	740	G>V		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs147125766 CA7136387	741	F>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7136386 rs775181182	741	F>S		No	ClinGen ExAC gnomAD
rs1330731388 CA389232416	742	G>D		No	ClinGen gnomAD
COSM3955959 CA389232407 rs183076331 COSM3955958 COSM3955957	742	G>R	lung [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs183076331 CA7136389	742	G>S		No	1000Genomes ExAC TOPMed gnomAD ClinGen
CA389232625 rs1441280957	746	P>H		No	gnomAD ClinGen
CA389232627 rs1441280957	746	P>L		No	ClinGen gnomAD
rs762313742 CA7136390	746	P>T		No	ExAC TOPMed gnomAD ClinGen
rs1372779986 CA389232661	747	P>H		No	gnomAD ClinGen
CA389232635 rs1293896165	747	P>T		No	ClinGen gnomAD
CA7136392 rs56367620	748	L>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	748	L>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7136391 rs765734107	748	L>V		No	ClinGen ExAC TOPMed gnomAD
CA389232721 rs1594721062	749	Y>S		No	Ensembl ClinGen
rs374429320 CA7136395	751	Q>E		No	ESP ExAC TOPMed gnomAD ClinGen
rs993724875 CA257902046	751	Q>P		No	Ensembl ClinGen
rs144027275 CA7136396	752	T>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs144027275 CA389232859	752	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1295915352 CA389232840	752	T>P		No	ClinGen TOPMed
rs748167627 CA7136398	754	P>T		No	ExAC gnomAD ClinGen
rs1566471741 CA389232923	755	P>A		No	ClinGen Ensembl
rs1193197953 CA389232947	756	P>A		No	ClinGen gnomAD
rs1193197953 CA389232950	756	P>S		No	ClinGen gnomAD
rs377350961 CA7136400	757	S>C		No	ESP ExAC TOPMed gnomAD ClinGen
CA389233022 rs1217795255	758	Y>*		No	Ensembl ClinGen
rs1166212691 CA389233038	759	R>K		No	ClinGen gnomAD
CA7136401 rs745692330	759	R>S		No	ClinGen ExAC gnomAD
CA7136402 COSM1259057 COSM1259058 rs527523977	760	P>L	oesophagus [Cosmic]	No	1000Genomes ExAC TOPMed gnomAD ClinGen cosmic curated
CA389233101 rs527523977	760	P>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7136403 rs527523977	760	P>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs187429426 CA7136408	763	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA389233160 rs761337015	763	R>W		No	ClinGen ExAC gnomAD
rs199941427 CA389233190 CA7136409	764	M>I		No	1000Genomes ExAC TOPMed gnomAD ClinGen
CA389233225 rs1267864145	765	F>L		No	TOPMed gnomAD ClinGen
CA7136410 rs763293431	765	F>S		No	ClinGen ExAC TOPMed gnomAD
CA389233299 rs1594721286	768	T>I		No	Ensembl ClinGen
rs1339363965 CA389233432	773	G>D		No	ClinGen gnomAD
CA389233475 rs1229341902	774	C>G		No	gnomAD ClinGen
rs1180718906 CA389233505	775	A>P		No	TOPMed ClinGen
CA7136411 rs766749525	777	P>R		No	ExAC gnomAD ClinGen
rs751912577 CA7136412	778	P>H		No	ClinGen ExAC gnomAD
rs1238806555 CA389233598	779	A>T		No	TOPMed ClinGen
TCGA novel	780	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1213314324 CA389233620	780	V>F		No	ClinGen gnomAD
rs1391078776 CA389233652	781	S>F		No	gnomAD ClinGen
rs539035596 CA257902141	783	L>I		No	gnomAD ClinGen
rs1390293423 CA389233721	784	P>H		No	gnomAD ClinGen
CA7136414 rs767805417	785	R>C		No	ExAC TOPMed gnomAD ClinGen
CA389233741 rs752877307	785	R>H		No	ClinGen ExAC gnomAD
CA389233744 rs752877307	785	R>L		No	ExAC gnomAD ClinGen
CA7136415 rs752877307	785	R>P		No	ExAC gnomAD ClinGen
CA7136417 rs374275387	786	P>A		No	ESP ExAC gnomAD ClinGen
CA7136416 rs374275387	786	P>S		No	ESP ExAC gnomAD ClinGen
CA7136418 rs202137246	787	F>L		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs1188522781 CA389233783	787	F>S		No	ClinGen TOPMed gnomAD
rs1188522781 CA389233780	787	F>Y		No	ClinGen TOPMed gnomAD
CA389233819 rs1231078377	789	S>R		No	TOPMed ClinGen
rs758212728 CA389233871	790	D>E		No	ClinGen ExAC TOPMed gnomAD
CA257902190 rs962709460	791	P>L		No	ClinGen TOPMed gnomAD
rs746766488 CA7136421	795	R>Q		No	ExAC TOPMed gnomAD ClinGen
rs1352210330 COSM2033427 COSM3401267 COSM2033426 CA389233972	795	R>W	large_intestine Variant assessed as Somatic; impact. central_nervous_system [Cosmic, NCI-TCGA]	No	TOPMed gnomAD ClinGen cosmic curated NCI-TCGA
CA7136422 rs569203914	796	G>D		No	1000Genomes ExAC TOPMed gnomAD ClinGen
CA389234018 rs1305885085	797	S>F		No	ClinGen TOPMed
CA389234041 rs920557882	798	S>C		No	gnomAD ClinGen
rs920557882 CA257902213	798	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA389234120 rs1233125796	800	S>F		No	ClinGen gnomAD
CA7136423 rs7149586 VAR_046987	800	S>P		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen UniProt dbSNP
rs747649801 CA7136424	801	L>V		No	ClinGen ExAC TOPMed gnomAD
CA389234147 rs1188128158	802	G>A		No	ClinGen TOPMed
rs1188128158 CA389234146	802	G>E		No	TOPMed ClinGen
rs773647671 CA7136426	802	G>R		No	ClinGen ExAC TOPMed gnomAD
CA7136427 rs773647671	802	G>W		No	ExAC TOPMed gnomAD ClinGen
CA7136428 rs771493678	803	L>V		No	ClinGen ExAC TOPMed gnomAD
rs905838139 CA257902217	804	P>L		No	TOPMed ClinGen
rs568205566 CA7136432	805	F>L		No	1000Genomes ExAC gnomAD ClinGen
rs1219973695 CA389234286	805	F>Y		No	TOPMed ClinGen
CA257902220 rs752964036	806	S>C		No	ExAC TOPMed gnomAD ClinGen
CA7136433 rs752964036	806	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen NCI-TCGA
CA7136434 rs200885279	807	P>L		No	ExAC TOPMed gnomAD ClinGen
CA389234387 rs1156381013	808	P>S		No	gnomAD ClinGen
rs779918597 CA389234501	812	R>G		No	ClinGen ExAC TOPMed gnomAD
CA7136439 rs751403911	812	R>P		No	ClinGen ExAC TOPMed gnomAD
rs751403911 CA7136440	812	R>Q		No	ExAC TOPMed gnomAD ClinGen
CA7136438 COSM3711489 COSM283237 COSM3711490 rs779918597	812	R>W	upper_aerodigestive_tract Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1374211078 CA389234551	813	P>L		No	ClinGen TOPMed gnomAD
rs1374211078 CA389234539	813	P>Q		No	TOPMed gnomAD ClinGen
CA7136441 rs780889666	815	P>A		No	ExAC gnomAD ClinGen
rs1044359289 CA257902264	817	P>L		No	ClinGen Ensembl
CA7136442 rs747822058	819	S>T		No	ClinGen ExAC gnomAD
CA257902268 rs769268740	821	P>L		No	ExAC TOPMed gnomAD ClinGen
rs769268740 CA7136443	821	P>R		No	ExAC TOPMed gnomAD ClinGen
TCGA novel	822	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs777337327 CA7136444	822	L>V		No	ClinGen ExAC gnomAD
rs1484662092 CA389234957	825	P>L		No	ClinGen gnomAD
rs774970090 CA7136447	827	P>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1179375150 CA389235123	829	Q>R		No	gnomAD ClinGen
CA389235202 rs1362926530	831	D>V		No	ClinGen gnomAD
TCGA novel	832	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA389235240 rs1470171425	832	V>M		No	TOPMed ClinGen
CA389235310 rs1175032155	833	H>L		No	ClinGen TOPMed gnomAD
CA389235297 rs1175032155	833	H>P		No	ClinGen TOPMed gnomAD
rs1175032155 CA389235300	833	H>R		No	TOPMed gnomAD ClinGen
rs1392671637 CA389235327	834	P>R		No	gnomAD ClinGen
rs1299179793 CA389235394	837	A>T		No	ClinGen gnomAD
CA389235423 rs1221029136	838	E>K		No	ClinGen Ensembl
rs1328600289 CA389235671	842	K>N		No	ClinGen gnomAD
CA389235687 rs1372054324	843	V>L		No	ClinGen gnomAD
CA7136454 rs142208294	846	G>D		No	ClinGen ESP ExAC gnomAD
CA389235792 rs1301378547	846	G>S		No	ClinGen gnomAD
rs142208294 CA7136453	846	G>V		No	ClinGen ESP ExAC gnomAD
rs766342952 CA7136455	852	G>E		No	ExAC TOPMed gnomAD ClinGen
TCGA novel	853	A>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs751493993 CA7136456	853	A>S		No	ExAC gnomAD ClinGen
rs1371880202 CA389236113	853	A>V		No	ClinGen gnomAD
rs767310366 CA7136458	854	P>L		No	ExAC gnomAD ClinGen
rs868247208 CA257902377	854	P>S		No	ClinGen TOPMed gnomAD
CA7136460 rs755820501	856	Q>E		No	ExAC gnomAD ClinGen
CA7136461 rs777240043	859	S>F		No	ExAC TOPMed gnomAD ClinGen
rs1594722327 CA389236403	859	S>P		No	Ensembl ClinGen
rs1373030318 CA389236485	861	G>D		No	TOPMed ClinGen
rs1326532485 CA389236522	862	G>A		No	TOPMed ClinGen
CA389236523 rs1326532485	862	G>V		No	ClinGen TOPMed
CA389236529 rs1385775956	863	Y>N		No	ClinGen TOPMed
CA389236534 rs1594722391	863	Y>S		No	Ensembl ClinGen
rs1159849943 CA389236660	866	G>D		No	TOPMed ClinGen
CA7136463 rs756826575	868	R>*		No	ClinGen ExAC gnomAD
CA7136464 rs779626056	868	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA389236832 rs1443381760	871	V>A		No	ClinGen TOPMed gnomAD
CA389236830 rs1443381760	871	V>D		No	TOPMed gnomAD ClinGen
rs775954580 CA7136467	873	I>V		No	ExAC gnomAD ClinGen
CA257902426 rs1027946409	874	Q>*		No	ClinGen Ensembl
rs1376723108 CA389237001	875	G>D		No	ClinGen TOPMed
CA389236998 rs1382910747	875	G>S		No	gnomAD ClinGen
CA7136468 rs747289825	877	T>M		No	ExAC TOPMed gnomAD ClinGen
TCGA novel	878	L>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA257902438 rs978529236	879	E>K		No	ClinGen TOPMed
rs1594722570 CA389237204	880	E>G		No	ClinGen Ensembl
rs1257225651 CA389237238	881	V>M		No	ClinGen gnomAD
CA389237866 rs1333714467	884	I>L		No	TOPMed ClinGen
rs778574475 CA7136482	885	I>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	886	G>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs200962276 CA7136483	887	R>*		No	ESP ExAC TOPMed gnomAD ClinGen
rs758997767 CA7136484	887	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen NCI-TCGA
TCGA novel	889	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs372832506 CA7136485	890	S>N		No	ClinGen ESP ExAC gnomAD
COSM432969 CA7136486 rs747438906	892	F>L	breast [Cosmic]	No	ExAC gnomAD ClinGen cosmic curated
rs891315108 CA257902899	895	P>S		No	TOPMed ClinGen
CA389238030 rs1314760335	897	G>R		No	TOPMed gnomAD ClinGen
rs896403458 CA257902900	899	E>Q		No	TOPMed gnomAD ClinGen
CA7136488 rs776969426	901	P>S		No	ExAC TOPMed gnomAD ClinGen
rs769933716 CA7136490	902	A>V		No	ExAC TOPMed gnomAD ClinGen

No associated diseases with Q14934

3 regional properties for Q14934

Type	Name	Position	InterPro Accession
domain	Protein kinase domain	64 - 325	IPR000719
active_site	Serine/threonine-protein kinase, active site	186 - 198	IPR008271
binding_site	Protein kinase, ATP binding site	70 - 93	IPR017441

Functions

		Description
EC Number
Subcellular Localization	Cytoplasm Nucleus	When hyperphosphorylated, localizes in the cytosol When intracellular Ca(2+) levels increase, dephosphorylation by calcineurin/PPP3CA leads to translocation into the nucleus (PubMed:11997522, PubMed:18347059) MAPK7/ERK5 and MTOR regulate NFATC4 nuclear export through phosphorylation at Ser-168 and Ser-170 (PubMed:18347059)
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

5 GO annotations of cellular component

Name	Definition
chromatin	The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
nuclear speck	A discrete extra-nucleolar subnuclear domain, 20-50 in number, in which splicing factors are seen to be localized by immunofluorescence microscopy.
nucleus	A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.
transcription regulator complex	A protein complex that is capable of associating with DNA by direct binding, or via other DNA-binding proteins or complexes, and regulating transcription.

5 GO annotations of molecular function

Name	Definition
DNA-binding transcription factor activity, RNA polymerase II-specific	A DNA-binding transcription factor activity that modulates the transcription of specific gene sets transcribed by RNA polymerase II.
DNA-binding transcription repressor activity, RNA polymerase II-specific	A DNA-binding transcription factor activity that represses or decreases the transcription of specific gene sets transcribed by RNA polymerase II.
peroxisome proliferator activated receptor binding	Binding to a peroxisome proliferator activated receptor, alpha, beta or gamma.
RNA polymerase II cis-regulatory region sequence-specific DNA binding	Binding to a specific upstream regulatory DNA sequence (transcription factor recognition sequence or binding site) located in cis relative to the transcription start site (i.e., on the same strand of DNA) of a gene transcribed by RNA polymerase II.
sequence-specific double-stranded DNA binding	Binding to double-stranded DNA of a specific nucleotide composition, e.g. GC-rich DNA binding, or with a specific sequence motif or type of DNA, e.g. promotor binding or rDNA binding.

28 GO annotations of biological process

Name	Definition
brain-derived neurotrophic factor receptor signaling pathway	The series of molecular signals generated as a consequence of a brain-derived neurotrophic factor receptor binding to one of its physiological ligands.
branching involved in blood vessel morphogenesis	The process of coordinated growth and sprouting of blood vessels giving rise to the organized vascular system.
calcineurin-NFAT signaling cascade	Any intracellular signal transduction in which the signal is passed on within the cell by activation of a member of the NFAT protein family as a consequence of NFAT dephosphorylation by Ca(2+)-activated calcineurin. The cascade begins with calcium-dependent activation of the phosphatase calcineurin. Calcineurin dephosphorylates multiple phosphoserine residues on NFAT, resulting in the translocation of NFAT to the nucleus. The cascade ends with regulation of transcription by NFAT. The calcineurin-NFAT cascade lies downstream of many cell surface receptors, including G protein-coupled receptors (GPCRs) and receptor tyrosine kinases (RTKs) that signal to mobilize calcium ions (Ca2+).
cellular respiration	The enzymatic release of energy from inorganic and organic compounds (especially carbohydrates and fats) which either requires oxygen (aerobic respiration) or does not (anaerobic respiration).
cellular response to lithium ion	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a lithium (Li+) ion stimulus.
cellular response to UV	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an ultraviolet radiation (UV light) stimulus. Ultraviolet radiation is electromagnetic radiation with a wavelength in the range of 10 to 380 nanometers.
dendrite morphogenesis	The process in which the anatomical structures of a dendrite are generated and organized.
heart development	The process whose specific outcome is the progression of the heart over time, from its formation to the mature structure. The heart is a hollow, muscular organ, which, by contracting rhythmically, keeps up the circulation of the blood.
inflammatory response	The immediate defensive reaction (by vertebrate tissue) to infection or injury caused by chemical or physical agents. The process is characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages.
intrinsic apoptotic signaling pathway in response to DNA damage	The series of molecular signals in which an intracellular signal is conveyed to trigger the apoptotic death of a cell. The pathway is induced by the detection of DNA damage, and ends when the execution phase of apoptosis is triggered.
long-term memory	The memory process that deals with the storage, retrieval and modification of information a long time (typically weeks, months or years) after receiving that information. This type of memory is typically dependent on gene transcription regulated by second messenger activation.
long-term synaptic potentiation	A process that modulates synaptic plasticity such that synapses are changed resulting in the increase in the rate, or frequency of synaptic transmission at the synapse.
negative regulation of chromatin binding	Any process that stops or reduces the frequency, rate or extent of chromatin binding. Chromatin binding is the selective interaction with chromatin, the network of fibers of DNA, protein, and sometimes RNA, that make up the chromosomes of the eukaryotic nucleus during interphase.
negative regulation of dendrite morphogenesis	Any process that stops, prevents, or reduces the frequency, rate or extent of dendrite morphogenesis.
negative regulation of miRNA transcription	Any process that stops, prevents or reduces the frequency, rate or extent of microRNA (miRNA) gene transcription.
negative regulation of neuron apoptotic process	Any process that stops, prevents, or reduces the frequency, rate or extent of cell death by apoptotic process in neurons.
negative regulation of protein binding	Any process that stops, prevents, or reduces the frequency, rate or extent of protein binding.
negative regulation of synapse maturation	Any process that stops, prevents or reduces the frequency, rate or extent of synapse maturation.
negative regulation of Wnt signaling pathway	Any process that stops, prevents, or reduces the frequency, rate or extent of the Wnt signaling pathway.
neuron apoptotic process	Any apoptotic process in a neuron, the basic cellular unit of nervous tissue. Each neuron consists of a body, an axon, and dendrites. Their purpose is to receive, conduct, and transmit impulses in the nervous system.
positive regulation of apoptotic signaling pathway	Any process that activates or increases the frequency, rate or extent of apoptotic signaling pathway.
positive regulation of neuron apoptotic process	Any process that activates or increases the frequency, rate or extent of cell death of neurons by apoptotic process.
positive regulation of transcription by RNA polymerase II	Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter.
positive regulation of tumor necrosis factor production	Any process that activates or increases the frequency, rate or extent of tumor necrosis factor production.
regulation of transcription by RNA polymerase II	Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II.
synapse maturation	The process that organizes a synapse so that it attains its fully functional state. Synaptic maturation plays a critical role in the establishment of effective synaptic connections in early development.
transcription by RNA polymerase II	The synthesis of RNA from a DNA template by RNA polymerase II (RNAP II), originating at an RNA polymerase II promoter. Includes transcription of messenger RNA (mRNA) and certain small nuclear RNAs (snRNAs).
vascular associated smooth muscle cell development	The process aimed at the progression of a vascular smooth muscle cell over time, from initial commitment of the cell to a specific fate, to the fully functional differentiated cell. A vascular smooth muscle cell is a non-striated, elongated, spindle-shaped cell found lining the blood vessels.

3 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
O95644	NFATC1	Nuclear factor of activated T-cells, cytoplasmic 1	Homo sapiens (Human)	SS
Q60591	Nfatc2	Nuclear factor of activated T-cells, cytoplasmic 2	Mus musculus (Mouse)	PR
Q8K120	Nfatc4	Nuclear factor of activated T-cells, cytoplasmic 4	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MGAASCEDEE	LEFKLVFGEE	KEAPPLGAGG	LGEELDSEDA	PPCCRLALGE	PPPYGAAPIG
70	80	90	100	110	120
IPRPPPPRPG	MHSPPPRPAP	SPGTWESQPA	RSVRLGGPGG	GAGGAGGGRV	LECPSIRITS
130	140	150	160	170	180
ISPTPEPPAA	LEDNPDAWGD	GSPRDYPPPE	GFGGYREAGG	QGGGAFFSPS	PGSSSLSSWS
190	200	210	220	230	240
FFSDASDEAA	LYAACDEVES	ELNEAASRFG	LGSPLPSPRA	SPRPWTPEDP	WSLYGPSPGG
250	260	270	280	290	300
RGPEDSWLLL	SAPGPTPASP	RPASPCGKRR	YSSSGTPSSA	SPALSRRGSL	GEEGSEPPPP
310	320	330	340	350	360
PPLPLARDPG	SPGPFDYVGA	PPAESIPQKT	RRTSSEQAVA	LPRSEEPASC	NGKLPLGAEE
370	380	390	400	410	420
SVAPPGGSRK	EVAGMDYLAV	PSPLAWSKAR	IGGHSPIFRT	SALPPLDWPL	PSQYEQLELR
430	440	450	460	470	480
IEVQPRAHHR	AHYETEGSRG	AVKAAPGGHP	VVKLLGYSEK	PLTLQMFIGT	ADERNLRPHA
490	500	510	520	530	540
FYQVHRITGK	MVATASYEAV	VSGTKVLEMT	LLPENNMAAN	IDCAGILKLR	NSDIELRKGE
550	560	570	580	590	600
TDIGRKNTRV	RLVFRVHVPQ	GGGKVVSVQA	ASVPIECSQR	SAQELPQVEA	YSPSACSVRG
610	620	630	640	650	660
GEELVLTGSN	FLPDSKVVFI	ERGPDGKLQW	EEEATVNRLQ	SNEVTLTLTV	PEYSNKRVSR
670	680	690	700	710	720
PVQVYFYVSN	GRRKRSPTQS	FRFLPVICKE	EPLPDSSLRG	FPSASATPFG	TDMDFSPPRP
730	740	750	760	770	780
PYPSYPHEDP	ACETPYLSEG	FGYGMPPLYP	QTGPPPSYRP	GLRMFPETRG	TTGCAQPPAV
790	800	810	820	830	840
SFLPRPFPSD	PYGGRGSSFS	LGLPFSPPAP	FRPPPLPASP	PLEGPFPSQS	DVHPLPAEGY
850	860	870	880	890	900
NKVGPGYGPG	EGAPEQEKSR	GGYSSGFRDS	VPIQGITLEE	VSEIIGRDLS	GFPAPPGEEP

PA