AiPD: Autoinhibited Protein Database

Q6GYQ0

Gene name	RALGAPA1 (GARNL1, KIAA0884, TULIP1)
Protein name	Ral GTPase-activating protein subunit alpha-1
Names	GAP-related-interacting partner to E12, GRIPE, GTPase-activating Rap/Ran-GAP domain-like 1, Tuberin-like protein 1, p240
Species	Homo sapiens (Human)
KEGG Pathway	hsa:253959
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

338-411 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

338-411 (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 Q6GYQ0

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q6GYQ0-F1	Predicted				AlphaFoldDB

1214 variants for Q6GYQ0

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1595446167 RCV000853054 CA389503135 RCV001007482	204	E>*	Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
VAR_083728	204	E>del	NEDHRIT [UniProt]	Yes	UniProt
RCV001007480 CA389501478 COSM1369713 COSM1369712 RCV000853052 rs1595416752	376	R>*	Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation large_intestine [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
VAR_083729	376	R>del	NEDHRIT [UniProt]	Yes	UniProt
rs1555427204 CA389501436 RCV000623892	382	S>I	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA389458097 rs1595085511 VAR_083730 RCV001007479 RCV000853056	1076	N>S	Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation NEDHRIT; undetectable protein expression [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
rs1594878619 RCV000853053 RCV001007481	1664	F>missing	Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation [ClinVar]	Yes	ClinVar dbSNP
CA389449111 RCV000853055 rs1594642302 RCV001007483	1911	S>*	Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
VAR_083731	1911	S>del	NEDHRIT [UniProt]	Yes	UniProt
rs796052176 RCV000190180 CA204161	1999	R>P	Long QT syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
rs746130898 CA7157429	3	S>P		No	ClinGen ExAC
rs1383398414 CA389500355	8	G>A		No	ClinGen gnomAD
rs1319842849 CA389500351	9	D>N		No	ClinGen gnomAD
CA389500342 rs1432570150	10	V>L		No	ClinGen TOPMed gnomAD
CA389500344 rs1432570150	10	V>M		No	ClinGen TOPMed gnomAD
rs1390582100 CA389500334	11	K>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1009665257 CA259306217	12	K>R		No	ClinGen gnomAD
CA389500288 rs1309385086	18	L>V		No	ClinGen gnomAD
rs754940449 CA7157424	21	K>R		No	ClinGen ExAC gnomAD
CA7157422 rs766210552	24	A>S		No	ClinGen ExAC gnomAD
rs766210552 CA389500247	24	A>T		No	ClinGen ExAC gnomAD
CA7157421 rs758017348	24	A>V		No	ClinGen ExAC gnomAD
CA7157420 rs750028258	26	T>I		No	ClinGen ExAC gnomAD
CA389500234 rs750028258	26	T>S		No	ClinGen ExAC gnomAD
rs776071415 CA7157417	34	V>I		No	ClinGen ExAC gnomAD
CA7157392 rs774927109	38	A>T		No	ClinGen ExAC gnomAD
rs1431143653 CA389497814	40	S>F		No	ClinGen TOPMed gnomAD
CA7157389 rs773311210	41	I>S		No	ClinGen ExAC
rs763134649 CA7157390	41	I>V		No	ClinGen ExAC gnomAD
COSM311380 rs748376129 COSM311379 CA259302458	45	Q>H	lung [Cosmic]	No	ClinGen cosmic curated Ensembl
rs375919378 CA7157387	48	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs375919378 CA389497762	48	D>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs908134224 CA259302457	53	H>Y		No	ClinGen TOPMed
TCGA novel	54	I>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA389497716 rs1319397224	54	I>T		No	ClinGen TOPMed
CA7157385 rs372299350	54	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	55	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	58	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA389497686 rs1595515588	58	F>Y		No	ClinGen Ensembl
CA389497651 rs745648650	63	V>L		No	ClinGen ExAC gnomAD
CA7157384 rs745648650	63	V>M		No	ClinGen ExAC gnomAD
CA389497639 rs367546617	65	I>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA7157383 rs367546617	65	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA259302456 rs983697411	69	L>V		No	ClinGen TOPMed
rs1460388238 CA389497233	73	G>A		No	ClinGen Ensembl
rs1311373417 CA389497219	75	K>R		No	ClinGen gnomAD
TCGA novel	82	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7157366 rs771974534	83	A>V		No	ClinGen ExAC gnomAD
rs1322735817 CA389497119	84	I>M		No	ClinGen gnomAD
CA7157359 rs752245625	90	K>N		No	ClinGen ExAC gnomAD
rs755510156 CA7157358	91	I>M		No	ClinGen ExAC gnomAD
CA389496516 rs1459454948	92	L>F		No	ClinGen gnomAD
rs752073852 CA7157356	93	Q>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	98	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA389496416 rs1388302016	100	H>N		No	ClinGen gnomAD
TCGA novel	102	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7157353 rs750864485	102	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA389496339 rs1207718300	108	I>T		No	ClinGen gnomAD
CA259302003 rs866190685	109	G>*		No	ClinGen Ensembl
rs773120716 CA7157343	114	K>T		No	ClinGen ExAC gnomAD
rs1363336146 CA389496100	115	L>P		No	ClinGen gnomAD
rs1176849301 CA389496093	116	L>F		No	ClinGen gnomAD
rs1481432502 CA389496066	118	T>I		No	ClinGen TOPMed
CA259301141 rs995293895	118	T>P		No	ClinGen Ensembl
CA7157338 rs746534039	121	S>C		No	ClinGen ExAC gnomAD
rs964546028 CA259300968	126	R>Q		No	ClinGen TOPMed gnomAD
rs1181977472 CA389495866	126	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
COSM212906 COSM955555 rs747979440 CA7157323	130	R>C	Variant assessed as Somatic; 0.0 impact. endometrium breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA7157322 rs776366011	130	R>H		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	132	F>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs746503355 CA7157320	136	L>S		No	ClinGen ExAC gnomAD
rs1280200243 CA389495786	138	A>P		No	ClinGen gnomAD
rs1407057939 CA389495780	139	L>V		No	ClinGen TOPMed
rs1244223685 CA389495771	140	Q>R		No	ClinGen gnomAD
rs1332137778 CA389495755	142	N>S		No	ClinGen TOPMed gnomAD
rs1008773770 CA259300967	145	K>T		No	ClinGen TOPMed
rs1319717517 CA389495726	146	E>*		No	ClinGen gnomAD
rs1319717517 CA389495727	146	E>Q		No	ClinGen gnomAD
rs1409771018 CA389495718	147	Q>*		No	ClinGen gnomAD
rs1409771018 CA389495719	147	Q>E		No	ClinGen gnomAD
CA389495720 rs1409771018	147	Q>K		No	ClinGen gnomAD
TCGA novel	147	Q>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1595461012 CA389495695	150	M>L		No	ClinGen Ensembl
rs371589913 CA7157316	153	C>Y		No	ClinGen ESP ExAC TOPMed
rs1472196384 CA389495666	154	L>V		No	ClinGen gnomAD
CA389495628 rs1367747514	159	S>L		No	ClinGen TOPMed
rs1185980373 CA389495619	161	P>Q		No	ClinGen gnomAD
rs757557333 CA7157314	161	P>T		No	ClinGen ExAC TOPMed gnomAD
rs764298652 CA7157313	162	Q>P		No	ClinGen ExAC TOPMed gnomAD
rs764298652 CA7157312	162	Q>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	163	S>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1247796754 CA389495591	165	H>L		No	ClinGen TOPMed gnomAD
rs1247796754 CA389495592	165	H>R		No	ClinGen TOPMed gnomAD
CA389495576 rs1341592545	168	R>G		No	ClinGen TOPMed gnomAD
rs1207295142 COSM955554 COSM955553 CA389495574	168	R>Q	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA389495535 rs1448937672	174	I>V		No	ClinGen TOPMed gnomAD
CA389495520 rs144800983	176	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA7157311 rs144800983	176	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA7157310 rs372283807	177	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA389495511 rs1465097972	178	L>F		No	ClinGen TOPMed
rs767679537 CA7157309	178	L>P		No	ClinGen ExAC gnomAD
rs766354148 CA259300966	179	N>S		No	ClinGen TOPMed gnomAD
COSM267309 COSM267308 rs1383509771 CA389495498	180	L>I	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
TCGA novel	182	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7157288 rs781292542	183	T>I		No	ClinGen ExAC gnomAD
rs553369955 CA7157286	186	T>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7157287 rs553369955	186	T>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7157285 rs765263849	187	I>T		No	ClinGen ExAC gnomAD
rs1279865955 CA389503227	191	T>I		No	ClinGen TOPMed
CA7157284 rs753654337	192	P>A		No	ClinGen ExAC gnomAD
CA259300556 rs373460239	192	P>L		No	ClinGen ESP TOPMed gnomAD
CA7157283 rs753654337	192	P>T		No	ClinGen ExAC gnomAD
rs763941328 CA7157282	193	L>F		No	ClinGen ExAC gnomAD
CA7157281 rs760405683	193	L>P		No	ClinGen ExAC gnomAD
TCGA novel	194	V>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1212613409 CA389503206	194	V>L		No	ClinGen TOPMed
CA7157280 rs775146719	195	P>S		No	ClinGen ExAC gnomAD
rs771625198 CA7157279	196	P>A		No	ClinGen ExAC gnomAD
CA389503187 rs1477149227	196	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA389503189 rs1477149227	196	P>Q		No	ClinGen TOPMed gnomAD
rs1439755287 CA389503164	200	D>Y		No	ClinGen TOPMed
CA389503148 rs1260873262	202	G>E		No	ClinGen gnomAD
rs995877338 CA259300555	202	G>R		No	ClinGen TOPMed
rs1595446142 CA389503110	207	T>I		No	ClinGen Ensembl
CA389503084 rs1309245526	211	L>V		No	ClinGen gnomAD
CA259300554 rs776602019	212	E>D		No	ClinGen Ensembl
CA389503059 rs1273438269	215	L>V		No	ClinGen gnomAD
CA7157273 rs370570306	218	I>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs370570306 CA7157272	218	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	224	S>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7157255 rs551480498	228	K>R		No	ClinGen 1000Genomes ExAC gnomAD
CA259300073 rs936615896	229	N>D		No	ClinGen TOPMed
CA7157253 rs748544145	230	K>N		No	ClinGen ExAC TOPMed gnomAD
CA7157254 rs770210826	230	K>R		No	ClinGen ExAC TOPMed gnomAD
rs1450824095 CA389502471	233	Q>K		No	ClinGen gnomAD
CA389502453 rs1358228610	235	R>T		No	ClinGen TOPMed
rs1456909331 CA389502409	241	F>C		No	ClinGen gnomAD
CA7157250 rs747184494	243	H>L		No	ClinGen ExAC gnomAD
CA7157251 rs768889806	243	H>N		No	ClinGen ExAC TOPMed gnomAD
rs200073184 CA7157249	243	H>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA259300070 rs917721928	248	Y>F		No	ClinGen TOPMed
CA7157245 rs549193637	250	P>L		No	ClinGen 1000Genomes ExAC gnomAD
rs777761307 CA7157246	250	P>S		No	ClinGen ExAC gnomAD
CA7157244 rs529467510	251	Y>F		No	ClinGen 1000Genomes ExAC gnomAD
rs1217260118 CA389502338	252	I>V		No	ClinGen gnomAD
CA389502305 rs1187139553	256	I>T		No	ClinGen TOPMed
TCGA novel	258	K>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA259300069 rs972574653	261	S>C		No	ClinGen TOPMed
CA7157242 rs754833981	264	H>R		No	ClinGen ExAC gnomAD
CA389502239 rs1188242745	265	P>R		No	ClinGen gnomAD
CA259300068 rs766447749	265	P>S		No	ClinGen ExAC TOPMed gnomAD
rs766447749 CA7157241	265	P>T		No	ClinGen ExAC TOPMed gnomAD
rs1385708486 CA389502232	266	I>M		No	ClinGen gnomAD
rs142660339 CA7157240	266	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1316130268 CA389502229	267	L>F		No	ClinGen gnomAD
CA389502209 rs1325049556	268	D>G		No	ClinGen gnomAD
rs1298268271 CA389502202	269	I>N		No	ClinGen gnomAD
rs779681128 CA7157223	271	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs369692262 CA7157224	271	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs927016210 CA259299923	272	M>T		No	ClinGen Ensembl
rs1023374772 CA259299924	272	M>V		No	ClinGen TOPMed
TCGA novel	274	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs758107432 CA7157222	275	K>R		No	ClinGen ExAC gnomAD
TCGA novel	277	H>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7157220 rs764610635	280	V>M		No	ClinGen ExAC TOPMed gnomAD
rs761406215 CA7157219	281	I>L		No	ClinGen ExAC TOPMed gnomAD
rs1371115588 CA389502117	282	K>R		No	ClinGen gnomAD
rs1172351447 CA389502110	283	K>Q		No	ClinGen gnomAD
rs1479920828 CA389502101	284	D>A		No	ClinGen TOPMed
rs1479920828 CA389502100	284	D>G		No	ClinGen TOPMed
rs1428712655 CA389502091	285	A>V		No	ClinGen gnomAD
CA259299922 rs981258760	286	E>A		No	ClinGen TOPMed
CA7157218 rs547208868	288	N>K		No	ClinGen 1000Genomes ExAC gnomAD
CA389502073 rs1194454868	288	N>S		No	ClinGen TOPMed gnomAD
CA389502050 rs1196585530	291	I>M		No	ClinGen gnomAD
CA7157217 COSM3706259 rs764663396 COSM3706260	292	Y>C	liver [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs761116978 CA7157216	295	K>E		No	ClinGen ExAC gnomAD
TCGA novel	295	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1396563987 CA389502025	295	K>R		No	ClinGen TOPMed
CA7157214 rs201001637	297	P>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA259299919 rs201001637	297	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7157213 rs201001637	297	P>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1311779995 CA389501985	301	A>D		No	ClinGen gnomAD
rs774666365 CA7157212	301	A>P		No	ClinGen ExAC TOPMed gnomAD
CA389501986 rs774666365	301	A>S		No	ClinGen ExAC TOPMed gnomAD
rs1311779995 CA389501983	301	A>V		No	ClinGen gnomAD
rs373301052 CA7157211	302	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs1281654347 CA389501979	302	R>H		No	ClinGen gnomAD
CA389501982 rs373301052	302	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs749399890 CA7157210	304	I>T		No	ClinGen ExAC gnomAD
CA389501961 rs1357898156	305	V>A		No	ClinGen TOPMed gnomAD
CA389501950 rs1346246797	307	R>C		No	ClinGen gnomAD
CA7157209 rs780929509	307	R>H		No	ClinGen ExAC gnomAD
rs1394298324 CA389501937	309	L>V		No	ClinGen gnomAD
CA389501928 rs1595424507	310	V>G		No	ClinGen Ensembl
CA389501923 rs1428113406	311	S>C		No	ClinGen gnomAD
CA389501895 rs1595424450	315	E>G		No	ClinGen Ensembl
CA7157207 rs746796792	316	P>A		No	ClinGen ExAC gnomAD
TCGA novel	319	H>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7157206 rs779875461	319	H>Q		No	ClinGen ExAC gnomAD
CA389501855 rs1180526278	321	G>A		No	ClinGen TOPMed gnomAD
TCGA novel	321	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs758217825 CA7157205	322	P>L		No	ClinGen ExAC gnomAD
rs1436558062 CA389501851	322	P>S		No	ClinGen gnomAD
CA7157204 rs749992031	327	M>I		No	ClinGen ExAC gnomAD
rs1324106770 CA389501799	330	E>K		No	ClinGen TOPMed
CA7157202 rs756651393	331	V>A		No	ClinGen ExAC TOPMed gnomAD
CA7157203 rs756651393	331	V>D		No	ClinGen ExAC TOPMed gnomAD
rs753454681 CA7157201	333	P>S		No	ClinGen ExAC gnomAD
rs764683550 CA7157200	336	I>F		No	ClinGen ExAC gnomAD
rs761311589 CA7157199	336	I>T		No	ClinGen ExAC gnomAD
CA7157169 rs756992006	340	A>D		No	ClinGen ExAC
CA389501692 rs1454399494	344	V>A		No	ClinGen gnomAD
CA389501696 rs1312622056	344	V>I		No	ClinGen gnomAD
rs747309342 CA259299759	345	S>F		No	ClinGen gnomAD
rs1158712333 CA389501656	349	S>R		No	ClinGen gnomAD
CA7157166 rs755717628	349	S>T		No	ClinGen ExAC gnomAD
CA7157165 rs753208295	352	D>G		No	ClinGen ExAC TOPMed gnomAD
CA389501614 rs1247676821	355	D>G		No	ClinGen TOPMed
CA389501613 rs1247676821	355	D>V		No	ClinGen TOPMed
rs1475338833 CA389501608	356	K>Q		No	ClinGen TOPMed
CA7157163 rs755230614	357	T>R		No	ClinGen ExAC TOPMed gnomAD
rs1425141586 CA389501579	360	T>S		No	ClinGen TOPMed
rs752032223 CA7157161	361	T>A		No	ClinGen ExAC gnomAD
TCGA novel	362	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA389501561 rs763288693	363	P>H		No	ClinGen ExAC gnomAD
rs763288693 CA7157159	363	P>L		No	ClinGen ExAC gnomAD
rs766499777 CA7157160	363	P>S		No	ClinGen ExAC gnomAD
CA389501551 rs1567148796	365	Q>E		No	ClinGen Ensembl
rs374730251 CA7157158	366	S>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs921047919 CA259299756	366	S>C		No	ClinGen Ensembl
CA389501536 rs1331702409	367	H>R		No	ClinGen Ensembl
rs1391781914 CA389501486	374	T>M		No	ClinGen TOPMed
CA7157154 rs772060334	375	E>G		No	ClinGen ExAC gnomAD
CA389501474 rs1353015917	376	R>Q		No	ClinGen TOPMed gnomAD
TCGA novel	377	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7157152 rs200550812	378	P>H		No	ClinGen ExAC gnomAD
CA259299755 rs200550812	378	P>R		No	ClinGen ExAC gnomAD
rs1298250284 CA389501460	379	S>G		No	ClinGen gnomAD
rs1280084947 CA389501445	381	S>A		No	ClinGen TOPMed
CA389501443 rs1567148510	381	S>C		No	ClinGen Ensembl
CA7157148 rs145415708	383	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1419230163 CA389501417	385	S>N		No	ClinGen gnomAD
CA7157146 rs781763660	386	I>T		No	ClinGen ExAC gnomAD
CA7157147 rs199526418	386	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs755569920 CA7157145	388	E>K		No	ClinGen ExAC gnomAD
CA7157144 rs751851395	390	H>Y		No	ClinGen ExAC gnomAD
rs1489882425 CA389501362	393	D>G		No	ClinGen gnomAD
CA389501356 rs1303564377	394	I>V		No	ClinGen gnomAD
COSM186308 COSM3983238 CA7157141 rs368011492	398	R>C	ovary Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA7157142 rs368011492	398	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs761872111 CA7157139	398	R>H		No	ClinGen ExAC TOPMed gnomAD
CA7157140 rs761872111	398	R>L		No	ClinGen ExAC TOPMed gnomAD
CA7157138 rs200804312	400	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7157137 rs767334395	401	F>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	402	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	402	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7157136 rs759557310	403	S>Y		No	ClinGen ExAC gnomAD
rs774185274 CA7157135	404	K>R		No	ClinGen ExAC gnomAD
CA7157133 rs376013955	405	R>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA389501286 rs1304489395	405	R>S		No	ClinGen TOPMed gnomAD
CA7157134 rs376013955	405	R>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA389501278 rs1437795820	406	S>R		No	ClinGen TOPMed gnomAD
rs371763895 CA7157132	407	N>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA7157131 COSM1658906 rs769637785 COSM1658907	408	V>I	salivary_gland [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs368181746 CA7157130	409	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA7157128 rs769015220	412	T>I		No	ClinGen ExAC gnomAD
rs747513858 CA7157127	413	E>G		No	ClinGen ExAC gnomAD
CA389501228 rs1200281828	414	I>T		No	ClinGen gnomAD
CA7157126 rs780435264	414	I>V		No	ClinGen ExAC gnomAD
CA7157125 rs375837919	416	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs372742287 CA7157124	416	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA389501175 rs1314771922	419	F>L		No	ClinGen gnomAD
rs1184897942 CA389501143	424	C>Y		No	ClinGen TOPMed
rs1419612194 CA389501125	427	A>T		No	ClinGen TOPMed
CA7157103 rs754008309	427	A>V		No	ClinGen ExAC gnomAD
CA259299161 rs866143972	428	A>D		No	ClinGen Ensembl
rs777869508 CA7157102	428	A>T		No	ClinGen ExAC TOPMed gnomAD
CA259299160 rs577713190 CA7157100	429	M>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs75342992 CA7157101	429	M>V		No	ClinGen ExAC gnomAD
rs368596095 CA7157099	432	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1161455507 CA389501083	434	K>E		No	ClinGen gnomAD
CA389501074 rs1421405198	435	V>I		No	ClinGen gnomAD
rs765086346 CA7157096	440	I>T		No	ClinGen ExAC TOPMed gnomAD
CA389501036 rs1385818689	440	I>V		No	ClinGen TOPMed
CA7157094 rs776277526	442	Q>E		No	ClinGen ExAC gnomAD
rs760214742 CA7157092	443	E>G		No	ClinGen ExAC gnomAD
rs763718558 CA7157093	443	E>Q		No	ClinGen ExAC gnomAD
CA259299158 rs926064879	445	K>E		No	ClinGen Ensembl
CA389501000 rs1357621592	445	K>I		No	ClinGen TOPMed
CA389500956 rs1415770678	451	E>K		No	ClinGen TOPMed
CA389500942 rs1217375774	453	E>Q		No	ClinGen gnomAD
CA259299155 rs932836349	454	E>G		No	ClinGen gnomAD
CA259299156 rs891757419	454	E>K		No	ClinGen TOPMed
CA7157090 rs772535581	455	I>T		No	ClinGen ExAC gnomAD
rs774908068 CA7157091	455	I>V		No	ClinGen ExAC gnomAD
rs1381855650 CA389500911	458	T>A		No	ClinGen gnomAD
CA7157085 rs778054647	463	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA7157086 rs749619849	463	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA389500867 rs756349497	465	I>L		No	ClinGen ExAC gnomAD
CA7157083 rs748237547	465	I>M		No	ClinGen ExAC gnomAD
CA389500864 rs1343622424	465	I>T		No	ClinGen TOPMed
CA7157084 rs756349497	465	I>V		No	ClinGen ExAC gnomAD
CA389500851 rs1369977806	467	N>T		No	ClinGen gnomAD
rs781173427 CA7157081	471	H>D		No	ClinGen ExAC TOPMed gnomAD
CA389500824 rs1488333801	471	H>R		No	ClinGen gnomAD
rs908761531 CA259299154	472	D>G		No	ClinGen gnomAD
CA389500796 rs1315650580	475	M>R		No	ClinGen gnomAD
CA389500787 rs1491002695	476	E>G		No	ClinGen gnomAD
CA7157080 rs147632848	476	E>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1266368531 CA389500782	477	E>K		No	ClinGen gnomAD
CA389500769 rs1305932022	479	E>K		No	ClinGen gnomAD
CA389500733 rs1298007911	483	E>V		No	ClinGen gnomAD
rs1301903056 CA389500686	488	N>S		No	ClinGen gnomAD
TCGA novel	491	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7157059 rs757188983	492	H>D		No	ClinGen ExAC TOPMed gnomAD
CA389500652 rs1394049488	493	V>A		No	ClinGen gnomAD
rs1240793727 CA389500648	494	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA7157058 COSM955547 COSM955548 rs370292880	494	R>Q	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA7157057 rs763755478	496	S>Y		No	ClinGen ExAC gnomAD
rs573832132 CA7157056	497	S>N		No	ClinGen 1000Genomes ExAC gnomAD
rs1173563247 CA389500628	497	S>R		No	ClinGen gnomAD
rs573832132 CA259298761	497	S>T		No	ClinGen 1000Genomes ExAC gnomAD
rs866732139 CA259298760	498	W>*		No	ClinGen Ensembl
rs1467159429 CA389500611	500	K>E		No	ClinGen gnomAD
rs752233789 CA7157055	500	K>T		No	ClinGen ExAC gnomAD
CA7157053 rs376250965	502	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA389500591 rs1595379646	503	S>P		No	ClinGen Ensembl
CA389500585 rs1417928219	504	Y>H		No	ClinGen gnomAD
CA7157052 rs751128181	505	Q>R		No	ClinGen ExAC
rs1240385913 CA389500569	506	G>C		No	ClinGen gnomAD
rs890519734 CA259298759	508	L>F		No	ClinGen Ensembl
CA259298758 rs763633090	508	L>H		No	ClinGen Ensembl
CA389500549 rs200986328	509	H>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1179709812 CA389500552	509	H>R		No	ClinGen gnomAD
CA389500543 rs1595379499	510	N>T		No	ClinGen Ensembl
CA7157049 rs140065183	511	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1567126259 CA389500528	513	E>K		No	ClinGen Ensembl
CA7157046 rs776930183	514	E>K		No	ClinGen ExAC TOPMed gnomAD
CA259298757 rs776930183	514	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA259298756 rs958276497	515	A>V		No	ClinGen TOPMed
CA389500501 rs1383654593	517	E>G		No	ClinGen TOPMed
CA7157045 rs769054448	517	E>K		No	ClinGen ExAC
CA7157044 rs747059492	520	I>M		No	ClinGen ExAC gnomAD
CA259298755 rs866418265	521	R>*		No	ClinGen TOPMed gnomAD
CA389500473 rs780318105	521	R>P		No	ClinGen ExAC TOPMed gnomAD
rs780318105 CA7157043	521	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA389500443 rs1262303201	526	A>S		No	ClinGen gnomAD
CA389500430 rs1310998306	528	L>S		No	ClinGen TOPMed
TCGA novel	529	Q>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1282282260 CA389500156	530	V>G		No	ClinGen gnomAD
rs762067206 CA7157029	530	V>M		No	ClinGen ExAC gnomAD
TCGA novel	531	F>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1246501226 CA389500143	532	I>T		No	ClinGen gnomAD
rs1340754872 CA389500138	533	I>L		No	ClinGen TOPMed gnomAD
COSM258910 CA389500103 COSM258909 rs1228538571	538	I>V	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
TCGA novel	540	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs768966560 CA7157027	540	L>V		No	ClinGen ExAC gnomAD
CA7157026 rs760936820	542	E>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs904809253 CA259297739	544	A>E		No	ClinGen Ensembl
CA7157024 rs377319153	545	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs745964228 CA7157023	546	E>K		No	ClinGen ExAC gnomAD
TCGA novel	547	I>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs777566820 CA7157022	547	I>V		No	ClinGen ExAC gnomAD
rs542760192 CA7157021	549	N>S		No	ClinGen 1000Genomes ExAC gnomAD
rs542760192 CA7157020	549	N>T		No	ClinGen 1000Genomes ExAC gnomAD
CA389500020 rs1191060463	551	L>V		No	ClinGen TOPMed gnomAD
rs1265171369 CA389499985	556	D>H		No	ClinGen gnomAD
rs1247134133 CA389499952	560	R>G		No	ClinGen TOPMed
TCGA novel	560	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs751166945 CA7157017	564	I>M		No	ClinGen ExAC gnomAD
CA7157016 rs373259684	566	R>Q		No	ClinGen ESP ExAC gnomAD
TCGA novel	566	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA389499907 rs1450041974	567	Y>H		No	ClinGen gnomAD
rs757785214 CA7157015	568	M>I		No	ClinGen ExAC gnomAD
CA389499884 TCGA novel rs1485496948	570	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen TOPMed NCI-TCGA
CA7157013 rs765636485	571	Q>E		No	ClinGen ExAC TOPMed gnomAD
CA7157012 rs757874997	572	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1278350599 CA389499862	574	M>V		No	ClinGen gnomAD
rs764501561 CA7157010	576	K>R		No	ClinGen ExAC TOPMed gnomAD
CA389499806 rs1458778748	579	W>*		No	ClinGen gnomAD
CA389499799 rs1371340733	580	E>G		No	ClinGen TOPMed
CA7156989 rs540952938	584	L>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1309946803 CA389499764	585	V>A		No	ClinGen TOPMed gnomAD
rs1202411732 COSM1223054 CA389499768 COSM1223055	585	V>M	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1307468234	588	R>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA389499746 rs1264828391	588	R>T		No	ClinGen TOPMed
rs766434660 CA7156986	590	T>M		No	ClinGen ExAC TOPMed gnomAD
CA7156984 rs776486693	595	K>N		No	ClinGen ExAC gnomAD
rs768652174 CA7156983	596	M>R		No	ClinGen ExAC gnomAD
TCGA novel	599	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA259297441 rs376510223	600	A>G		No	ClinGen ESP TOPMed
rs746797013 CA7156982	602	L>P		No	ClinGen ExAC gnomAD
TCGA novel	603	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	606	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs144614582 CA7156979	607	K>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs748033282	609	N>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs748033282	609	N>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs1260014097 CA389499598	610	M>K		No	ClinGen TOPMed
CA389499568 rs1238346995	614	G>V		No	ClinGen gnomAD
rs1182580944 CA389499565	615	R>Q		No	ClinGen gnomAD
rs1430686713 CA389499556	617	A>T		No	ClinGen TOPMed
COSM1223053 CA7156976 COSM1223052 rs778440635	617	A>V	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA389499541 rs1210236842	619	P>L		No	ClinGen gnomAD
CA7156975 rs756759382	619	P>S		No	ClinGen ExAC
rs1446890444 CA389499538	620	L>F		No	ClinGen gnomAD
rs770763980 CA7156957	625	I>V		No	ClinGen ExAC gnomAD
rs775798610 CA259297290	631	A>T		No	ClinGen Ensembl
rs777465719 CA7156955	637	I>V		No	ClinGen ExAC gnomAD
rs1015769087 CA259297289	639	R>*		No	ClinGen gnomAD
rs1358109209 CA389499394	640	E>Q		No	ClinGen TOPMed
rs1351200658 CA389499379	641	L>F		No	ClinGen gnomAD
CA7156954 rs769461271	645	L>S		No	ClinGen ExAC gnomAD
CA7156950 rs751939396	647	S>*		No	ClinGen ExAC gnomAD
CA7156948 rs373484494	651	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1489676949 CA389499266	651	S>P		No	ClinGen gnomAD
rs1204086826 CA389499236	654	Y>C		No	ClinGen TOPMed gnomAD
rs1219365000 CA389499169	660	T>A		No	ClinGen gnomAD
CA7156945 rs761809492	666	M>L		No	ClinGen ExAC TOPMed gnomAD
rs761809492 CA389499096	666	M>V		No	ClinGen ExAC TOPMed gnomAD
CA389499017 rs1397698158	674	A>D		No	ClinGen TOPMed gnomAD
rs1397698158 CA389499014	674	A>G		No	ClinGen TOPMed gnomAD
CA389499022 rs1464760791	674	A>T		No	ClinGen gnomAD
CA389499009 rs1473867077	675	R>K		No	ClinGen TOPMed
rs1268456835 CA389498855	688	D>V		No	ClinGen gnomAD
TCGA novel	691	S>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	691	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1178462472 CA389498828	692	E>A		No	ClinGen gnomAD
TCGA novel	693	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1456580277 CA389498822	693	Q>K		No	ClinGen gnomAD
CA389498805 rs1199289638	695	Q>K		No	ClinGen gnomAD
CA389498791 rs1164075564	697	K>*		No	ClinGen TOPMed
TCGA novel	697	K>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1344384185	698	H>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA259297285 rs1002102535	700	G>E		No	ClinGen Ensembl
rs369042628 CA7156939	700	G>W		No	ClinGen ESP ExAC gnomAD
rs1418294790 CA389498759	701	K>R		No	ClinGen TOPMed
rs940960732 CA259297189	705	H>R		No	ClinGen TOPMed gnomAD
rs751579689 CA7156924	707	F>L		No	ClinGen ExAC gnomAD
rs1236006331 CA389498400	708	Q>H		No	ClinGen TOPMed
rs888035880 CA259297188	709	K>E		No	ClinGen Ensembl
rs75856669 CA7156923	710	V>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1358188508 CA389498385	711	S>A		No	ClinGen gnomAD
CA7156921 rs200211363	712	V>D		No	ClinGen ExAC TOPMed gnomAD
CA259297187 rs200211363	712	V>G		No	ClinGen ExAC TOPMed gnomAD
rs1403464480 CA389498355	715	S>*		No	ClinGen gnomAD
CA389498330 rs1418480790	719	G>E		No	ClinGen TOPMed gnomAD
CA7156918 rs776057388	721	S>R		No	ClinGen ExAC gnomAD
rs769180156 CA7156917	722	R>C		No	ClinGen ExAC TOPMed gnomAD
CA7156916 rs201744354	722	R>H		No	ClinGen 1000Genomes ExAC gnomAD
CA389498304 rs1189624681	723	D>G		No	ClinGen gnomAD
CA7156915 rs775986729	723	D>H		No	ClinGen ExAC gnomAD
CA7156914 rs772352772	725	P>S		No	ClinGen ExAC gnomAD
rs746296161 CA7156913	726	G>S		No	ClinGen ExAC gnomAD
CA7156912 rs779092142	726	G>V		No	ClinGen ExAC gnomAD
rs757468237 CA7156911	728	A>S		No	ClinGen ExAC TOPMed gnomAD
CA389498274 rs757468237	728	A>T		No	ClinGen ExAC TOPMed gnomAD
CA7156910 rs199531204	728	A>V		No	ClinGen 1000Genomes ExAC gnomAD
rs1355159102 CA389498270	729	P>A		No	ClinGen TOPMed gnomAD
rs777674990 CA7156909	729	P>L		No	ClinGen ExAC gnomAD
rs1242189908 CA389498262	730	M>T		No	ClinGen TOPMed
rs138413090 CA7156908	730	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs766425829 CA7156906	732	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA389498233 rs1398674383	734	S>N		No	ClinGen gnomAD
rs758265378 CA7156905	735	A>V		No	ClinGen ExAC gnomAD
rs764923703 CA7156903	739	G>A		No	ClinGen ExAC gnomAD
rs926253520 CA259297186	739	G>C		No	ClinGen TOPMed gnomAD
rs1371369219 CA389498191	741	P>L		No	ClinGen TOPMed
rs776364796 CA7156901	745	K>E		No	ClinGen ExAC TOPMed
rs1237909867 CA389498155	747	R>K		No	ClinGen TOPMed
CA389498147 rs200339487	748	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA7156899 rs200339487	748	S>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA7156897 rs549346670	749	I>M		No	ClinGen 1000Genomes ExAC gnomAD
CA7156898 rs775968575	749	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1364935715 CA389498135	750	V>E		No	ClinGen TOPMed
rs1265285093 CA389498138	750	V>I		No	ClinGen gnomAD
CA389498130 rs774617805	751	R>L		No	ClinGen ExAC TOPMed gnomAD
CA7156895 rs774617805	751	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs746208135 CA7156896	751	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	753	K>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1287550491 CA389498108	754	T>I		No	ClinGen gnomAD
TCGA novel	754	T>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs778071028 CA7156892	756	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs778071028 CA7156893	756	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA389464364 rs1357304244	757	I>N		No	ClinGen gnomAD
CA7156872 rs770205877	761	Q>R		No	ClinGen ExAC gnomAD
CA389464328 rs1368092953	762	I>T		No	ClinGen TOPMed
CA258879253 rs989400165	762	I>V		No	ClinGen Ensembl
rs768876463 CA7156870	763	L>F		No	ClinGen ExAC TOPMed gnomAD
CA258879246 rs957948045	763	L>H		No	ClinGen Ensembl
rs768876463 CA7156869	763	L>I		No	ClinGen ExAC TOPMed gnomAD
rs1013724398 CA258879243	764	P>L		No	ClinGen TOPMed
COSM246940 rs565490640 COSM246939 CA7156868	765	R>C	Variant assessed as Somatic; 0.0 impact. endometrium prostate [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs778927449 CA7156867	765	R>H		No	ClinGen ExAC TOPMed gnomAD
rs888050916 CA258879234	767	T>A		No	ClinGen TOPMed
rs753736661 CA7156865	769	V>I		No	ClinGen ExAC gnomAD
CA258879222 rs1030408743	771	H>Y		No	ClinGen Ensembl
TCGA novel	773	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs752369902 CA7156862	777	E>K		No	ClinGen ExAC gnomAD
CA7156861 rs766975141	778	T>I		No	ClinGen ExAC gnomAD
rs1467156538 CA389464226	779	G>R		No	ClinGen TOPMed
rs751951979 CA7156859	780	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1226881887 CA389464207	781	E>D		No	ClinGen gnomAD
TCGA novel	782	V>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1381419844 CA389464205	782	V>I		No	ClinGen gnomAD
CA389464188 rs1294022305	784	G>D		No	ClinGen gnomAD
rs867253385 CA258879208	785	A>S		No	ClinGen Ensembl
CA258879206 rs1037799004	787	N>S		No	ClinGen Ensembl
CA258879203 rs545245466	788	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen 1000Genomes NCI-TCGA
rs1415296933 CA389464166	788	E>K		No	ClinGen TOPMed gnomAD
CA258879195 rs894701662	794	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1595154661 CA389464056	803	E>D		No	ClinGen Ensembl
rs137995108 CA7156853	803	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7156852 rs370638732	804	P>L		No	ClinGen ESP ExAC gnomAD
rs747175063 CA7156851	807	V>A		No	ClinGen ExAC gnomAD
CA389464028 rs1486392564	808	E>G		No	ClinGen gnomAD
rs1196230797 CA389464031	808	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA389464023 rs1442511906	809	R>G		No	ClinGen TOPMed
rs1265297148 CA389464021	809	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA389464017 rs937681178	810	A>S		No	ClinGen gnomAD
CA258879185 rs937681178	810	A>T		No	ClinGen gnomAD
rs1297901917 CA389463762	816	D>G		No	ClinGen gnomAD
rs773139303 CA7156830	816	D>N		No	ClinGen ExAC gnomAD
CA7156828 rs747994607	817	M>I		No	ClinGen ExAC gnomAD
CA7156829 rs137914041	817	M>V		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	820	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	821	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1355326188 CA389463722	821	L>R		No	ClinGen TOPMed
CA7156827 rs373286209	822	P>R		No	ClinGen ESP ExAC gnomAD
rs754697106 CA7156826	823	P>R		No	ClinGen ExAC TOPMed gnomAD
rs146947683 CA389463710	824	L>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs146947683 CA7156825	824	L>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1190176195 CA389463670	829	G>V		No	ClinGen TOPMed gnomAD
CA7156822 rs151076975	830	G>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs142557972 CA7156824	830	G>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA258878601 rs151076975	830	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs142557972 COSM433043 CA7156823 COSM433042	830	G>S	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA7156821 rs765906797	831	S>G		No	ClinGen ExAC gnomAD
rs757695203 CA7156820	831	S>N		No	ClinGen ExAC
rs903337361 CA389463654	832	S>R		No	ClinGen TOPMed
rs190278832 CA7156819	834	N>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs142979833 CA7156818	834	N>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1595141313 CA389463589	842	F>V		No	ClinGen Ensembl
TCGA novel	844	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA389463555 rs1421369314	847	L>F		No	ClinGen TOPMed
rs1474502939 CA389463551	848	R>G		No	ClinGen TOPMed
CA389463547 rs1234600180	848	R>L		No	ClinGen gnomAD
CA258878591 COSM1223059 COSM1223058 rs774593817	849	S>G	large_intestine [Cosmic]	No	ClinGen cosmic curated Ensembl
CA7156814 rs759549252	850	G>A		No	ClinGen ExAC gnomAD
rs1278111179 CA389463537	850	G>S		No	ClinGen gnomAD
rs1169722920 CA389463525	852	A>T		No	ClinGen TOPMed
CA7156813 rs773120857	852	A>V		No	ClinGen ExAC TOPMed gnomAD
rs116939827	853	S>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA7156812 rs76969155	853	S>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA389463502 rs1452049839	854	T>A		No	ClinGen Ensembl
rs145724037 CA7156794	855	M>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA258878313 rs975416136	856	T>A		No	ClinGen Ensembl
CA389463486 rs1383323163	856	T>K		No	ClinGen TOPMed
CA7156792 rs776578791	859	G>R		No	ClinGen ExAC TOPMed gnomAD
CA389463458 rs1421576983	860	S>R		No	ClinGen gnomAD
CA389463454 rs1168225146	861	S>N		No	ClinGen gnomAD
rs1277776576 CA389463414	866	E>Q		No	ClinGen TOPMed
CA389463283 rs1393114916	876	N>I		No	ClinGen gnomAD
rs1393114916 CA389463285	876	N>S		No	ClinGen gnomAD
CA7156791 rs768427930	877	K>E		No	ClinGen ExAC gnomAD
rs1454482930 CA389463262	878	Q>E		No	ClinGen gnomAD
rs775207992 CA7156790	878	Q>H		No	ClinGen ExAC gnomAD
rs1201867773 CA389463235	879	N>K		No	ClinGen gnomAD
COSM955542 COSM955541 rs771666236 CA7156788	882	R>C	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA7156787 rs778519470	882	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs778519470 CA7156786	882	R>L		No	ClinGen ExAC TOPMed gnomAD
rs770598333 CA7156785	883	P>R		No	ClinGen ExAC gnomAD
rs912523713 CA258878301	884	I>V		No	ClinGen TOPMed gnomAD
rs1595135204 CA389463158	886	D>A		No	ClinGen Ensembl
rs749747392 CA7156784	886	D>N		No	ClinGen ExAC gnomAD
CA7156783 rs532325755	887	P>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs564618364 CA7156782	887	P>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs753069971 CA7156781	888	G>D		No	ClinGen ExAC gnomAD
rs1355245796 CA389463098	892	E>K		No	ClinGen gnomAD
rs1595135062 CA389463067	894	T>P		No	ClinGen Ensembl
TCGA novel	895	S>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1443412733 CA389462892	897	A>T		No	ClinGen TOPMed
TCGA novel	901	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs751801057 CA7156778	901	S>T		No	ClinGen ExAC TOPMed gnomAD
CA389462859 rs1566997887	902	S>G		No	ClinGen Ensembl
CA389462842 rs1293066869	904	L>I		No	ClinGen gnomAD
CA389462834 rs1159301377	905	I>T		No	ClinGen TOPMed
rs753747036 CA7156775	912	D>N		No	ClinGen ExAC gnomAD
TCGA novel	913	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7156773 rs760490766	916	A>T		No	ClinGen ExAC gnomAD
CA7156772 rs747689843	920	D>H		No	ClinGen ExAC TOPMed gnomAD
rs747689843 CA389462650	920	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs759225574 CA7156770	922	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs774153721 CA7156769	923	K>E		No	ClinGen ExAC
CA389462584 rs1566997578	923	K>I		No	ClinGen Ensembl
CA7156757 rs764074059	928	G>V		No	ClinGen ExAC gnomAD
TCGA novel	929	F>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs755958684 CA7156756	930	G>V		No	ClinGen ExAC gnomAD
rs2274068 CA7156755 VAR_019804	931	T>A		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs2274068 CA389462331	931	T>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7156753 rs759419690	932	D>N		No	ClinGen ExAC gnomAD
rs759419690 CA389462319	932	D>Y		No	ClinGen ExAC gnomAD
CA389462299 rs1332521818	933	T>A		No	ClinGen gnomAD
CA389462274 rs1295042100	934	G>E		No	ClinGen gnomAD
CA389462270 COSM1707274 rs1415398266 COSM1707273	935	V>I	skin [Cosmic]	No	ClinGen cosmic curated gnomAD
rs766201314 CA7156751	936	T>M		No	ClinGen ExAC TOPMed gnomAD
CA7156749 rs772646361	938	S>F		No	ClinGen ExAC TOPMed gnomAD
rs945394725 CA258878067	938	S>P		No	ClinGen TOPMed gnomAD
rs1419473400 CA389462196	939	A>T		No	ClinGen TOPMed gnomAD
CA258878066 rs866471617	939	A>V		No	ClinGen gnomAD
CA258878065 rs550016504	944	G>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7156745 rs550016504	944	G>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs747427887 CA7156744	947	H>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	951	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1469877563 CA389461981	952	E>K		No	ClinGen gnomAD
rs758672851 CA7156742	954	Q>R		No	ClinGen ExAC gnomAD
rs746128108 CA7156741	955	E>G		No	ClinGen ExAC gnomAD
rs778820866 CA7156740	956	V>L		No	ClinGen ExAC gnomAD
rs757364383 CA7156739	958	S>N		No	ClinGen ExAC gnomAD
CA7156738 rs781337724 CA7156737	958	S>R		No	ClinGen ExAC gnomAD
CA389461859 rs1362149190	959	L>V		No	ClinGen gnomAD
rs1463572598 CA389461829	961	T>S		No	ClinGen TOPMed
CA389461819 rs1438307868	961	T>S		No	ClinGen gnomAD
CA7156736 rs754817063	963	H>Y		No	ClinGen ExAC gnomAD
rs751440193 CA7156735	966	S>F		No	ClinGen ExAC TOPMed gnomAD
CA389461657 rs1353270573	971	L>F		No	ClinGen gnomAD
TCGA novel	971	L>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA389461586 rs1172910020	975	A>T		No	ClinGen gnomAD
CA7156734 rs766107885	975	A>V		No	ClinGen ExAC
CA7156733 rs377100244	978	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs750120079 CA7156732	980	V>F		No	ClinGen ExAC gnomAD
rs1455786619 CA389461467	982	T>A		No	ClinGen gnomAD
rs1253653093 CA389461462	982	T>S		No	ClinGen gnomAD
CA7156730 rs761398008	983	I>M		No	ClinGen ExAC gnomAD
rs764582132 CA7156731	983	I>V		No	ClinGen ExAC TOPMed gnomAD
rs777104934 CA7156729	984	T>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA389460089 rs1237967364	985	G>D		No	ClinGen gnomAD
CA258877191 rs1045891757	987	E>K		No	ClinGen TOPMed
rs1333449998 CA389460073	988	S>R		No	ClinGen gnomAD
rs1308581348 CA389460058	990	S>P		No	ClinGen gnomAD
CA389460048 rs1392432978	991	P>Q		No	ClinGen gnomAD
CA7156716 rs371503384	994	S>P		No	ClinGen ESP ExAC gnomAD
CA389460024 rs1205719630	995	P>L		No	ClinGen gnomAD
CA7156715 rs779953579	995	P>S		No	ClinGen ExAC gnomAD
CA7156713 rs144245620	997	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA389460012 rs1158179816	998	S>P		No	ClinGen gnomAD
rs764995732 CA7156712	1000	S>*		No	ClinGen ExAC gnomAD
rs775116882 CA258877185	1001	Q>*		No	ClinGen Ensembl
rs367750787 CA7156711	1001	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs564559702 CA258877183	1002	T>A		No	ClinGen 1000Genomes TOPMed gnomAD
COSM317402 rs564559702 COSM317401 CA389459988	1002	T>S	lung [Cosmic]	No	ClinGen cosmic curated 1000Genomes TOPMed gnomAD
rs767829868 CA7156710	1003	P>S		No	ClinGen ExAC TOPMed gnomAD
CA389459974 rs1368364348	1004	S>F		No	ClinGen TOPMed
rs1472071271 CA389459968	1005	P>L		No	ClinGen TOPMed
CA389459958 rs1486525252	1007	T>K		No	ClinGen gnomAD
CA389459949 rs1338002098	1008	L>F		No	ClinGen Ensembl
rs1365590010 CA389459948	1009	N>H		No	ClinGen TOPMed
rs1348130168 CA389459936	1010	I>M		No	ClinGen TOPMed gnomAD
CA7156706 rs772271039	1010	I>T		No	ClinGen ExAC
CA7156707 rs775984476	1010	I>V		No	ClinGen ExAC gnomAD
CA389459931 rs1283658141	1011	D>G		No	ClinGen TOPMed gnomAD
rs974224837 CA258877175	1012	H>P		No	ClinGen TOPMed gnomAD
CA389459925 rs974224837	1012	H>R		No	ClinGen TOPMed gnomAD
rs150769817 CA7156705	1012	H>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA389459898 rs1322313468	1015	Q>H		No	ClinGen gnomAD
CA389459877 rs1228478521	1018	L>P		No	ClinGen gnomAD
rs774432624 CA7156704	1020	L>F		No	ClinGen ExAC gnomAD
CA389459862 rs1356478330	1021	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA389459857 rs1318100807	1021	D>V		No	ClinGen gnomAD
COSM1236124 RCV000948933 COSM1236125 CA7156701 rs148266372	1022	E>G	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs749355980 CA7156702	1022	E>K		No	ClinGen ExAC TOPMed gnomAD
CA7156700 rs770022909	1034	D>G		No	ClinGen ExAC gnomAD
rs1452630338 CA389458685	1037	I>S		No	ClinGen TOPMed
COSM1369704 rs1245666212 CA389458655 COSM1369705	1039	E>A	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed
rs956550026 CA258876635	1043	E>Q		No	ClinGen Ensembl
rs767890778 CA7156671	1045	C>Y		No	ClinGen ExAC TOPMed gnomAD
rs1169020604 CA389458527	1048	M>V		No	ClinGen gnomAD
TCGA novel	1052	T>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7156669 rs752035811	1053	L>V		No	ClinGen ExAC gnomAD
rs1164732350 CA389458383	1057	H>Q		No	ClinGen TOPMed
rs766700168 CA7156668	1057	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA389458288 rs1274244130	1064	M>T		No	ClinGen gnomAD
rs763422521 CA7156667	1066	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs147148745 CA7156666	1066	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs147148745 CA7156665	1066	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	1073	G>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs202093770 CA7156662	1078	I>V		No	ClinGen 1000Genomes ExAC gnomAD
CA7156661 rs140413304	1080	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA389457967 rs1282725586	1084	H>Y		No	ClinGen gnomAD
rs749148676 CA7156658	1089	D>G		No	ClinGen ExAC gnomAD
TCGA novel	1092	C>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1439881558 CA389457792	1094	L>F		No	ClinGen gnomAD
rs1416349011 CA389457652	1105	L>R		No	ClinGen TOPMed gnomAD
CA389457650 rs1413176303	1106	G>S		No	ClinGen TOPMed gnomAD
CA7156632 rs747768585	1109	T>A		No	ClinGen ExAC gnomAD
TCGA novel	1114	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs200656414 CA7156631	1118	P>S		No	ClinGen ExAC gnomAD
CA7156630 rs572237976	1120	L>F		No	ClinGen 1000Genomes ExAC gnomAD
CA258876566 rs558626507	1122	P>T		No	ClinGen 1000Genomes
rs1566971813 CA389457542	1123	P>L		No	ClinGen Ensembl
TCGA novel	1125	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA389457515 rs1464779353	1128	T>A		No	ClinGen TOPMed
rs1212934162 CA389457508	1129	P>S		No	ClinGen gnomAD
rs1267136173 CA389457462	1134	A>T		No	ClinGen TOPMed gnomAD
CA7156613 rs200031877	1136	M>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA389457449 rs1222306214	1136	M>V		No	ClinGen TOPMed gnomAD
CA258876419 rs564148950	1138	T>S		No	ClinGen 1000Genomes
CA389457426 rs1399200961	1139	D>G		No	ClinGen TOPMed
rs776342716 CA7156612	1140	K>E		No	ClinGen ExAC gnomAD
CA389457420 rs1230099564	1140	K>T		No	ClinGen gnomAD
CA389457411 rs1461945015	1141	Y>C		No	ClinGen gnomAD
rs1301989144 CA389457397	1143	Q>*		No	ClinGen gnomAD
CA7156610 rs746502068	1147	H>P		No	ClinGen ExAC gnomAD
CA258876415 rs190517996	1147	H>Q		No	ClinGen 1000Genomes
rs1438059051 CA389457368	1147	H>Y		No	ClinGen gnomAD
rs775088564 CA7156609	1148	A>V		No	ClinGen ExAC gnomAD
CA389457354 rs1461963497	1149	Y>F		No	ClinGen gnomAD
CA7156608 rs771736699	1154	N>S		No	ClinGen ExAC gnomAD
rs765599700 CA7156607	1156	M>L		No	ClinGen ExAC TOPMed gnomAD
rs779624092 CA7156606	1159	R>K		No	ClinGen ExAC gnomAD
CA389457246 rs1268196370	1165	N>H		No	ClinGen gnomAD
CA389457227 rs1480282340	1167	D>G		No	ClinGen gnomAD
CA389457175 rs1440553991	1174	N>S		No	ClinGen gnomAD
CA389457171 rs1303930267	1175	I>V		No	ClinGen TOPMed
CA389457159 rs1207051026	1176	M>I		No	ClinGen gnomAD
rs778034529 CA7156603	1176	M>T		No	ClinGen ExAC gnomAD
rs1342679266 CA389457136	1179	G>V		No	ClinGen gnomAD
rs756243027 CA7156602	1181	L>H		No	ClinGen ExAC gnomAD
CA389456950 rs1368244543	1189	N>S		No	ClinGen TOPMed
rs755045831 CA7156579	1190	T>A		No	ClinGen ExAC gnomAD
rs774726901 CA258876194	1191	I>N		No	ClinGen Ensembl
rs751678429 CA7156578	1192	I>V		No	ClinGen ExAC TOPMed gnomAD
CA7156577 rs137875717	1194	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA7156576 rs757090764	1195	C>W		No	ClinGen ExAC gnomAD
CA389456911 rs1472888128	1195	C>Y		No	ClinGen gnomAD
CA389456899 rs1225113606	1197	P>T		No	ClinGen TOPMed
TCGA novel CA389456887 rs1425124616	1199	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen gnomAD NCI-TCGA
rs772197415	1201	S>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA258876187 rs865801388	1201	S>L		No	ClinGen Ensembl
rs1269531832 CA389456859	1203	G>R		No	ClinGen gnomAD
CA7156571 rs775280833	1206	G>C		No	ClinGen ExAC gnomAD
CA389456830 rs1595073214	1208	T>S		No	ClinGen Ensembl
rs1282720425 CA389456822	1209	M>V		No	ClinGen gnomAD
CA258876183 rs377049717	1211	I>V		No	ClinGen TOPMed
rs1247463517 CA389456800	1212	M>T		No	ClinGen gnomAD
rs767321435 CA7156570	1213	D>Y		No	ClinGen ExAC gnomAD
CA389456785 rs1199287433	1214	F>V		No	ClinGen TOPMed
CA7156569 rs146957738	1216	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs868275818 CA258876180	1220	R>K		No	ClinGen Ensembl
rs773686515 CA7156568	1222	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1390864550 CA389456730	1223	S>A		No	ClinGen gnomAD
CA7156567 rs201831397	1223	S>F		No	ClinGen ExAC TOPMed gnomAD
CA7156566 rs763302829	1224	S>L		No	ClinGen ExAC gnomAD
rs768911848 CA7156561	1225	A>D		No	ClinGen ExAC
CA7156563 rs781361363	1225	A>S		No	ClinGen ExAC
CA7156562 rs781361363	1225	A>T		No	ClinGen ExAC
CA389456716 rs1236708799	1226	F>L		No	ClinGen gnomAD
rs779954680 CA7156559	1227	L>F		No	ClinGen ExAC gnomAD
rs758507812 CA7156558	1228	N>H		No	ClinGen ExAC
CA7156557 rs753709001	1228	N>K		No	ClinGen ExAC
rs1168902758 CA389456672	1231	R>K		No	ClinGen TOPMed gnomAD
rs1047805841 CA258874731	1232	V>L		No	ClinGen TOPMed gnomAD
CA7156538 rs777552596	1237	L>H		No	ClinGen ExAC gnomAD
rs1407735093 CA389456634	1237	L>I		No	ClinGen TOPMed
CA389456614 rs1452726001	1240	S>C		No	ClinGen gnomAD
rs781068214 CA7156535	1241	L>S		No	ClinGen ExAC TOPMed gnomAD
rs370698642 CA7156536	1241	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA389456604 rs1275612581	1242	V>A		No	ClinGen gnomAD
rs754835382 CA7156534	1242	V>L		No	ClinGen ExAC gnomAD
COSM955530 CA7156533 COSM955529 rs751159974	1243	C>Y	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA7156531 rs149260533	1246	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA7156529 rs764745649	1248	Y>C		No	ClinGen ExAC gnomAD
CA7156530 rs749999137	1248	Y>H		No	ClinGen ExAC gnomAD
CA389456531 rs1308033648	1253	S>Y		No	ClinGen gnomAD
rs1308238325 CA389456528	1254	L>F		No	ClinGen gnomAD
rs761171243 CA7156525	1258	I>T		No	ClinGen ExAC gnomAD
CA389456499 rs1175870225	1258	I>V		No	ClinGen TOPMed
TCGA novel	1259	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs775546457 CA7156524	1262	A>S		No	ClinGen ExAC gnomAD
rs1478607867 CA389456468	1263	V>M		No	ClinGen TOPMed gnomAD
rs368596656 CA389456453	1265	Q>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs368596656 CA7156523	1265	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA389456430 rs1436039181	1268	D>E		No	ClinGen TOPMed
rs1033986974 CA258874688	1269	V>I		No	ClinGen TOPMed
TCGA novel	1272	L>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7156505 rs759738293	1273	I>K		No	ClinGen ExAC gnomAD
CA389456381 rs1446475597	1274	I>V		No	ClinGen gnomAD
rs1341430881 CA389456361	1277	V>I		No	ClinGen TOPMed
CA7156502 rs749447980	1279	S>R		No	ClinGen ExAC TOPMed gnomAD
CA7156503 rs771123441	1279	S>T		No	ClinGen ExAC TOPMed gnomAD
rs995594359 CA258872240	1280	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs969299406 CA258872234	1281	A>S		No	ClinGen Ensembl
CA389456333 rs1285557679	1281	A>V		No	ClinGen gnomAD
rs776677927 CA7156501	1282	R>G		No	ClinGen ExAC gnomAD
TCGA novel	1284	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7156499 rs746942386	1285	P>S		No	ClinGen ExAC TOPMed gnomAD
CA389456279 rs1459732134	1290	R>Q		No	ClinGen TOPMed
CA389456041 rs1351941064	1292	V>A		No	ClinGen TOPMed gnomAD
CA7156480 rs771885608	1295	C>F		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1295	C>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA389456019 rs1450130611	1296	S>G		No	ClinGen gnomAD
CA7156479 rs745728189	1297	L>S		No	ClinGen ExAC TOPMed gnomAD
CA258870985 rs985825011	1298	G>S		No	ClinGen Ensembl
rs778517566 CA7156478	1301	I>V		No	ClinGen ExAC TOPMed gnomAD
rs770523191 CA7156477	1303	E>G		No	ClinGen ExAC gnomAD
CA389455935 rs1222047093	1308	E>K		No	ClinGen gnomAD
rs777270099 CA7156475	1309	S>C		No	ClinGen ExAC gnomAD
TCGA novel	1309	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA258870958 rs954478874	1310	H>N		No	ClinGen Ensembl
CA389455865 rs1319581396	1318	L>V		No	ClinGen TOPMed
CA389455859 rs1288091071	1319	N>Y		No	ClinGen gnomAD
CA7156474 rs199633544	1321	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1342229219 CA389455836	1322	C>*		No	ClinGen gnomAD
CA7156473 rs753238030	1322	C>S		No	ClinGen ExAC gnomAD
CA258870942 rs993578964	1324	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA258870317 rs989173780	1327	F>C		No	ClinGen Ensembl
TCGA novel	1328	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1359863184 CA389455784	1328	T>I		No	ClinGen gnomAD
rs560390824 CA7156451	1335	V>I		No	ClinGen ExAC gnomAD
rs755490730 CA7156449	1339	M>T		No	ClinGen ExAC TOPMed gnomAD
rs781707285 CA7156450	1339	M>V		No	ClinGen ExAC gnomAD
rs1483933924 CA389455705	1340	L>F		No	ClinGen gnomAD
CA389455686 rs1327709883	1342	M>I		No	ClinGen gnomAD
CA389455693 rs1208604785	1342	M>L		No	ClinGen gnomAD
CA389455679 rs1270351818	1344	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs780495725 CA7156447	1345	H>R		No	ClinGen ExAC gnomAD
CA389455648 rs1398061482	1348	P>R		No	ClinGen gnomAD
CA7156444 rs765443613	1349	R>S		No	ClinGen ExAC gnomAD
rs757327344 CA7156443	1351	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA389455622 rs759402765	1352	I>M		No	ClinGen ExAC gnomAD
rs376366378 CA7156441	1352	I>T		No	ClinGen ESP ExAC gnomAD
CA7156439 rs774286069	1354	Q>P		No	ClinGen ExAC TOPMed gnomAD
rs1367729019 CA389455605	1355	P>A		No	ClinGen gnomAD
CA7156438 rs766152802	1356	D>V		No	ClinGen ExAC gnomAD
rs1368663788 CA389455591	1357	S>A		No	ClinGen TOPMed
TCGA novel	1358	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA389455581 rs1594991622	1359	L>M		No	ClinGen Ensembl
rs762805914 CA7156437	1363	Q>E		No	ClinGen ExAC gnomAD
CA389455191 rs1447099289	1364	I>N		No	ClinGen gnomAD
rs1043943032 CA258868880	1366	I>V		No	ClinGen gnomAD
rs934211001 CA258868876	1367	A>S		No	ClinGen TOPMed
rs764103772 CA7156418	1367	A>V		No	ClinGen ExAC gnomAD
CA389455082 rs1265634034	1374	P>R		No	ClinGen gnomAD
CA7156417 rs756248039	1376	T>I		No	ClinGen ExAC TOPMed gnomAD
CA389455032 rs1490633544	1378	A>V		No	ClinGen gnomAD
rs1226529246 CA389454972	1383	M>V		No	ClinGen gnomAD
CA7156415 rs150450380	1385	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs752827497 CA7156398	1387	L>S		No	ClinGen ExAC TOPMed gnomAD
rs1399491484 CA389451705	1388	V>I		No	ClinGen gnomAD
CA7156397 rs781274665	1389	V>I		No	ClinGen ExAC TOPMed gnomAD
CA389451671 rs1411603396	1393	L>P		No	ClinGen gnomAD
rs750375629 CA7156395	1397	D>E		No	ClinGen ExAC gnomAD
COSM3690063 COSM3690062 CA7156394 rs202127547	1400	M>T	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs1173916147 CA389451614	1401	A>G		No	ClinGen gnomAD
rs1401700893 CA389451609	1402	L>S		No	ClinGen TOPMed
CA7156393 rs761721348	1404	L>V		No	ClinGen ExAC TOPMed gnomAD
CA258859322 rs371681384	1409	Q>R		No	ClinGen ESP
CA389451559 rs1463274907	1410	P>R		No	ClinGen gnomAD
CA389451557 rs1315157957	1411	F>L		No	ClinGen TOPMed
CA258859313 rs891056396	1412	H>R		No	ClinGen TOPMed
rs375997306 CA7156390	1414	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1226338623 CA389451524	1416	A>T		No	ClinGen gnomAD
CA389451508 rs1199689871	1418	S>N		No	ClinGen TOPMed
rs202171502 CA7156386	1419	D>N		No	ClinGen ExAC TOPMed gnomAD
rs1338149963 CA389451495	1420	K>E		No	ClinGen gnomAD
rs1338136186 CA389451472	1423	K>E		No	ClinGen gnomAD
rs1185421042 CA389451467	1423	K>N		No	ClinGen TOPMed
CA389451454 rs1243817213	1426	L>V		No	ClinGen TOPMed
CA7156385 rs372754869	1427	N>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs749707348 COSM77760 COSM1369701 CA7156384	1427	N>S	ovary large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1566885920 COSM1515525 CA389451433 COSM1515526	1429	I>V	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated Ensembl NCI-TCGA
rs769958383 CA7156382	1430	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs376098734 CA7156381	1431	K>E		No	ClinGen ExAC TOPMed gnomAD
CA258859274 rs888956652	1431	K>R		No	ClinGen TOPMed gnomAD
rs773528451 CA7156366	1437	V>I		No	ClinGen ExAC gnomAD
CA7156365 rs770145051	1441	Q>R		No	ClinGen ExAC gnomAD
rs776892271 CA7156363	1444	S>N		No	ClinGen ExAC gnomAD
CA7156362 rs374486689	1445	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs747152468 CA7156361	1447	R>G		No	ClinGen ExAC TOPMed gnomAD
CA389451295 rs1201359224	1447	R>K		No	ClinGen TOPMed
CA7156359 rs536726711	1449	F>S		No	ClinGen 1000Genomes ExAC gnomAD
rs927555624 CA258858622	1451	M>T		No	ClinGen gnomAD
rs1478486977 CA389451260	1452	S>G		No	ClinGen TOPMed
COSM955524 rs749243254 CA7156358 COSM955523	1452	S>N	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs777655656 CA7156357	1453	L>F		No	ClinGen ExAC TOPMed gnomAD
rs1411764509 CA389451251	1453	L>P		No	ClinGen TOPMed
rs1274841115 CA389451245	1454	S>C		No	ClinGen gnomAD
rs199964442 CA258858570	1456	L>V		No	ClinGen Ensembl
CA7156355 rs554131227	1457	A>V		No	ClinGen 1000Genomes ExAC gnomAD
CA7156352 rs751034542	1460	D>E		No	ClinGen ExAC TOPMed gnomAD
rs913408865 CA258858542	1461	Y>C		No	ClinGen Ensembl
CA7156351 rs765840951	1462	D>E		No	ClinGen ExAC TOPMed gnomAD
rs894805476 CA258858528	1467	L>S		No	ClinGen TOPMed
CA389451148 rs1363428634	1468	E>D		No	ClinGen TOPMed
rs1479321223 CA389451117	1473	P>A		No	ClinGen gnomAD
CA389451089 rs989012619	1477	H>P		No	ClinGen Ensembl
CA258858521 rs989012619	1477	H>R		No	ClinGen Ensembl
CA7156348 rs765569349	1479	P>S		No	ClinGen ExAC gnomAD
CA389451065 rs1566883067	1481	S>P		No	ClinGen Ensembl
rs1482528601 CA389451051	1483	R>*		No	ClinGen gnomAD
TCGA novel	1483	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7156345 rs768971793 CA7156344	1486	K>N		No	ClinGen ExAC gnomAD
rs201610962 CA7156343	1487	L>P		No	ClinGen ExAC gnomAD
rs772058841 CA258858470	1491	T>I		No	ClinGen ExAC TOPMed gnomAD
rs772058841 CA7156341	1491	T>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1496	Q>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA389450656 rs768346661 CA7156317	1497	M>I		No	ClinGen ExAC TOPMed gnomAD
rs1183868528 CA389450645	1499	H>Y		No	ClinGen gnomAD
rs779635349 CA7156315	1504	I>V		No	ClinGen ExAC TOPMed gnomAD
CA389450601 rs1277722759	1506	A>T		No	ClinGen TOPMed
rs749983564 CA7156313	1507	R>C		No	ClinGen ExAC TOPMed gnomAD
rs368647084 CA7156312	1507	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA258853568 rs955286647	1509	V>I		No	ClinGen TOPMed
rs1181197294 CA389450579	1510	I>V		No	ClinGen gnomAD
rs1171559000 CA389450565	1512	H>Y		No	ClinGen Ensembl
rs757719135 CA389450559	1513	L>M		No	ClinGen ExAC gnomAD
CA389450552 rs1244258083	1514	V>L		No	ClinGen gnomAD
TCGA novel	1522	M>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1566866275 CA389450485	1523	S>I		No	ClinGen Ensembl
rs764508106 CA7156309	1524	G>S		No	ClinGen ExAC TOPMed gnomAD
CA7156308 rs200013763	1527	A>V		No	ClinGen 1000Genomes ExAC gnomAD
CA7156307 rs752933482	1528	M>R		No	ClinGen ExAC gnomAD
rs1481252786 CA389450432	1530	T>A		No	ClinGen gnomAD
rs146535516 CA7156306	1530	T>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA389450407 rs1490430309	1531	S>T		No	ClinGen TOPMed
rs759863689 CA7156305	1533	V>A		No	ClinGen ExAC gnomAD
TCGA novel	1533	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1535	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7156304 rs774536653	1536	N>S		No	ClinGen ExAC gnomAD
rs1050370883 CA258853468	1538	D>N		No	ClinGen TOPMed gnomAD
CA389450269 rs1434314981	1539	N>H		No	ClinGen gnomAD
rs761755854 CA7156302	1539	N>S		No	ClinGen ExAC gnomAD
TCGA novel	1540	H>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1594880356 CA389450232	1541	Y>H		No	ClinGen Ensembl
rs1382422077 CA389450215	1542	S>G		No	ClinGen gnomAD
rs967778818 CA258853451	1544	S>N		No	ClinGen TOPMed
CA389450161 rs1187069325	1545	T>A		No	ClinGen TOPMed
CA258853448 rs144341319	1547	L>F		No	ClinGen ESP
CA389450123 rs1367524881	1547	L>R		No	ClinGen gnomAD
CA7156300 rs768491421	1549	P>S		No	ClinGen ExAC TOPMed gnomAD
CA389450050 rs1385337367	1553	E>K		No	ClinGen TOPMed gnomAD
rs1566865769 CA389450016	1554	S>N		No	ClinGen Ensembl
rs1188441965 CA389449994	1556	N>D		No	ClinGen gnomAD
rs1445781640 CA389449986	1556	N>S		No	ClinGen gnomAD
CA389449956 rs1264233975	1558	Q>E		No	ClinGen gnomAD
CA389449927 rs1594880094	1559	F>L		No	ClinGen Ensembl
TCGA novel	1560	F>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1351833661 CA389449878	1562	L>*		No	ClinGen TOPMed
CA389449849 rs376230806	1562	L>F		No	ClinGen ESP TOPMed gnomAD
rs1594880019 CA389449843	1563	N>S		No	ClinGen Ensembl
rs1488399069 CA389449831	1565	T>A		No	ClinGen gnomAD
rs148895555 CA389449828	1565	T>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs148895555 CA7156299	1565	T>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs148895555 CA7156298	1565	T>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7156297 rs771663600	1566	T>A		No	ClinGen ExAC TOPMed gnomAD
CA389449808 rs1338884487	1569	S>P		No	ClinGen gnomAD
CA258853394 rs902070029	1570	C>G		No	ClinGen TOPMed
CA389449801 rs1226959953	1570	C>Y		No	ClinGen TOPMed
rs145578563 CA258853379	1574	R>G		No	ClinGen ESP
CA258853378 rs386776432	1576	E>DQ		No	ClinGen Ensembl
TCGA novel	1576	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA389449741 rs1324602241	1578	N>S		No	ClinGen gnomAD
rs1389807064 CA389449725	1580	P>R		No	ClinGen gnomAD
CA389449729 rs1382542663	1580	P>S		No	ClinGen gnomAD
rs756731028 CA7156294	1581	G>R		No	ClinGen ExAC TOPMed gnomAD
rs149714413 CA7156293	1583	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs886672715 CA258853353	1583	G>S		No	ClinGen TOPMed
CA389454855 rs1395183450	1587	G>C		No	ClinGen TOPMed gnomAD
rs752959361 CA7156290	1589	A>T		No	ClinGen ExAC gnomAD
CA389454829 rs1183351564	1590	S>P		No	ClinGen TOPMed
CA7156288 rs187377538	1591	A>T		No	ClinGen 1000Genomes ExAC TOPMed
rs1039489428 CA258870835	1592	N>S		No	ClinGen TOPMed gnomAD
CA389454765 rs1432948795	1598	I>M		No	ClinGen TOPMed gnomAD
CA7156285 rs763005821	1599	V>A		No	ClinGen ExAC gnomAD
CA7156286 rs766549824	1599	V>I		No	ClinGen ExAC TOPMed gnomAD
CA389454758 rs1490577779	1600	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1319141723 CA389454743	1602	L>H		No	ClinGen TOPMed
rs1274259403 CA389454745	1602	L>V		No	ClinGen gnomAD
CA258870831 rs943485556	1603	S>F		No	ClinGen TOPMed gnomAD
CA7156284 rs776598287	1603	S>P		No	ClinGen ExAC gnomAD
CA7156282 rs775223835	1608	W>*		No	ClinGen ExAC gnomAD
CA7156281 rs775223835	1608	W>C		No	ClinGen ExAC gnomAD
TCGA novel	1610	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1406333968 CA389454641	1614	Y>*		No	ClinGen gnomAD
CA7156280 rs771859688	1614	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs1307100065 CA389454633	1615	G>D		No	ClinGen gnomAD
rs1345739022 CA389454637	1615	G>R		No	ClinGen gnomAD
rs1398076270 CA389454620	1617	P>T		No	ClinGen gnomAD
CA258870801 rs931032573	1619	V>I		No	ClinGen TOPMed gnomAD
CA258870800 rs931032573	1619	V>L		No	ClinGen TOPMed gnomAD
CA7156278 CA389454565 rs774057439	1622	L>F		No	ClinGen ExAC TOPMed gnomAD
rs1594879224 CA389454544	1624	E>D		No	ClinGen Ensembl
rs770444369 CA7156277	1625	P>T		No	ClinGen ExAC
rs748800460 CA7156276	1626	T>I		No	ClinGen ExAC TOPMed gnomAD
CA7156274 rs756541655	1627	S>F		No	ClinGen ExAC gnomAD
rs1179987205 CA389454490	1629	M>I		No	ClinGen gnomAD
CA389454496 rs1594879108	1629	M>T		No	ClinGen Ensembl
rs748672182 CA7156273	1629	M>V		No	ClinGen ExAC gnomAD
rs781645448 CA7156272	1630	L>F		No	ClinGen ExAC gnomAD
rs781645448 CA389454484	1630	L>I		No	ClinGen ExAC gnomAD
rs71421951 CA258870776	1633	S>A		No	ClinGen Ensembl
rs1566864061 CA389454440	1634	H>Q		No	ClinGen Ensembl
CA258870775 rs933836350	1640	E>K		No	ClinGen TOPMed gnomAD
rs397841900 CA7156270	1642	P>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1646	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1212187721 CA389454302	1648	L>V		No	ClinGen TOPMed
CA389454272 rs1243454603	1650	D>V		No	ClinGen TOPMed
rs923852520 CA258870770	1651	I>R		No	ClinGen TOPMed gnomAD
rs923852520 CA389454259	1651	I>T		No	ClinGen TOPMed gnomAD
CA7156267 rs750418746	1653	V>I		No	ClinGen ExAC TOPMed gnomAD
CA389454232 rs1471302813	1654	K>I		No	ClinGen TOPMed
rs1328958703 CA389454220	1655	D>G		No	ClinGen gnomAD
CA389454212 rs1179296280	1656	G>E		No	ClinGen TOPMed gnomAD
CA7156265 rs573868953	1656	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs775418729 CA7156264	1657	L>F		No	ClinGen ExAC TOPMed gnomAD
CA389454192 rs1566863654	1658	S>C		No	ClinGen Ensembl
rs767285948 CA7156263	1661	F>C		No	ClinGen ExAC gnomAD
CA389454151 rs1156977618	1662	K>E		No	ClinGen gnomAD
TCGA novel	1664	F>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs759367876 CA389454124	1664	F>S		No	ClinGen ExAC gnomAD
rs759367876 CA7156262	1664	F>Y		No	ClinGen ExAC gnomAD
TCGA novel	1667	T>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1186903423 CA389454046	1671	W>S		No	ClinGen gnomAD
rs1032114551 CA258870743	1673	T>I		No	ClinGen Ensembl
rs371628350 CA7156260	1674	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA389454009 rs1241191363	1675	R>K		No	ClinGen gnomAD
rs553742602 CA7156259	1676	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	1681	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1283295362 CA389453929	1686	Q>E		No	ClinGen gnomAD
TCGA novel	1686	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1273686678 CA389453901	1690	V>I		No	ClinGen TOPMed
rs200551162 CA258870714	1691	T>I		No	ClinGen gnomAD
CA389453891 rs200551162	1691	T>S		No	ClinGen gnomAD
CA389453881 rs1354526655	1693	P>T		No	ClinGen gnomAD
rs781780515 CA7156255	1694	E>G		No	ClinGen ExAC gnomAD
rs200608108 CA7156254	1701	I>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs577736342 CA7156253	1702	S>L		No	ClinGen 1000Genomes ExAC gnomAD
rs867992521 CA258870697	1706	P>L		No	ClinGen Ensembl
rs780486686 CA7156252	1707	A>P		No	ClinGen ExAC
rs758507648 CA7156251	1708	P>A		No	ClinGen ExAC
rs750660254 CA7156250	1711	V>A		No	ClinGen ExAC gnomAD
CA389453669 rs1316710303	1713	I>V		No	ClinGen gnomAD
rs1408945436 CA389453599	1719	N>D		No	ClinGen gnomAD
rs889169751 CA258870668	1723	N>K		No	ClinGen Ensembl
TCGA novel	1728	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA389453467 rs143682254	1730	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA7156246 rs143682254	1730	T>R		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	1734	E>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7156245 rs759494638	1736	V>I		No	ClinGen ExAC gnomAD
CA389453396 rs1239828156	1737	E>K		No	ClinGen TOPMed
TCGA novel	1739	H>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs376171168 CA7156243	1742	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA7156242 rs762457673	1742	D>V		No	ClinGen ExAC gnomAD
CA7156241 rs772979633	1743	L>S		No	ClinGen ExAC gnomAD
rs1477089611 CA389453275	1747	A>V		No	ClinGen TOPMed
rs769186854 CA7156240	1748	V>L		No	ClinGen ExAC gnomAD
rs769186854 CA389453272	1748	V>M		No	ClinGen ExAC gnomAD
CA7156238 rs761444929	1749	E>D		No	ClinGen ExAC
CA389453267 rs1316575841	1749	E>K		No	ClinGen gnomAD
rs1361840736 CA389453253	1750	Q>E		No	ClinGen gnomAD
rs777251143 CA7156236	1751	D>G		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1751	D>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1594877705 CA389453209	1754	I>V		No	ClinGen Ensembl
CA7156233 rs140406088	1758	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs772497991 CA7156232	1759	Q>R		No	ClinGen ExAC gnomAD
CA7156231 rs746063863	1761	A>P		No	ClinGen ExAC TOPMed gnomAD
CA389453095 rs1349722320	1764	Y>H		No	ClinGen gnomAD
rs779261664 CA7156230	1768	L>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA7156229 rs757306125	1769	L>F		No	ClinGen ExAC TOPMed
TCGA novel	1769	L>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs940937851 CA258870581	1770	S>N		No	ClinGen TOPMed gnomAD
CA389453021 rs888053165	1771	I>L		No	ClinGen gnomAD
CA7156228 rs373155996	1771	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA258870569 rs888053165	1771	I>V		No	ClinGen gnomAD
CA389453002 rs1198190432	1773	G>R		No	ClinGen gnomAD
CA7156226 rs754846574	1776	S>F		No	ClinGen ExAC gnomAD
CA7156225 rs751531302	1777	W>*		No	ClinGen ExAC gnomAD
CA7156199 rs749517987	1782	S>I		No	ClinGen ExAC gnomAD
CA389452829 rs749517987	1782	S>N		No	ClinGen ExAC gnomAD
CA7156197 rs756247627	1790	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs140958336 CA7156193	1797	R>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA389452673 rs1328208777	1800	D>N		No	ClinGen gnomAD
rs1443084770 CA389452634	1804	C>R		No	ClinGen gnomAD
CA7156175 COSM1369691 COSM1369692 rs368964947	1805	R>Q	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA7156174 rs778791069	1806	E>Q		No	ClinGen ExAC gnomAD
CA258860134 rs953398441	1808	H>D		No	ClinGen TOPMed gnomAD
CA389450958 rs953398441	1808	H>N		No	ClinGen TOPMed gnomAD
CA258860131 rs865842919	1809	K>N		No	ClinGen gnomAD
CA7156173 rs757175603	1810	I>V		No	ClinGen ExAC TOPMed gnomAD
CA7156170 rs755745433	1812	V>A		No	ClinGen ExAC TOPMed gnomAD
rs763879913 CA7156171	1812	V>I		No	ClinGen ExAC gnomAD
CA7156168 rs766942173	1816	A>D		No	ClinGen ExAC gnomAD
CA7156169 rs752212050	1816	A>T		No	ClinGen ExAC gnomAD
rs1311695792 CA389450902	1817	E>K		No	ClinGen TOPMed
rs774806377 CA258860102	1818	G>A		No	ClinGen Ensembl
CA389450873 rs1243612944	1821	D>N		No	ClinGen gnomAD
CA389450850 rs760032820	1823	H>Q		No	ClinGen ExAC gnomAD
TCGA novel	1823	H>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1313396049 CA389450834	1826	L>F		No	ClinGen gnomAD
CA389450825 rs1174873850	1827	T>I		No	ClinGen gnomAD
CA389450823 rs1338209548	1828	N>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA389450810 rs1359626344	1830	G>R		No	ClinGen TOPMed gnomAD
CA7156164 rs148216106	1833	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA7156163 rs773405501	1835	Y>C		No	ClinGen ExAC gnomAD
CA389450764 rs1284110986	1836	E>D		No	ClinGen TOPMed
CA7156161 rs748346559	1839	V>I		No	ClinGen ExAC gnomAD
rs776703245 CA7156160	1842	L>F		No	ClinGen ExAC gnomAD
rs761122924 CA258854602	1846	V>A		No	ClinGen Ensembl
rs1219008742 CA389450396	1850	N>K		No	ClinGen TOPMed gnomAD
CA389450337 rs1223697006	1855	M>T		No	ClinGen TOPMed
CA389450281 rs1331139922	1860	K>T		No	ClinGen gnomAD
TCGA novel	1861	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA258854595 rs1006250928	1864	T>S		No	ClinGen TOPMed
rs1327625114 CA389450199	1867	T>A		No	ClinGen gnomAD
rs1389224544 CA389450191	1867	T>I		No	ClinGen gnomAD
TCGA novel	1869	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA389450134 rs1219950678	1872	A>S		No	ClinGen TOPMed
CA389450127 rs1469562829	1873	T>A		No	ClinGen gnomAD
CA389450102 rs1427651031	1875	T>R		No	ClinGen TOPMed gnomAD
TCGA novel	1877	E>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7156134 rs774407891	1879	I>V		No	ClinGen ExAC gnomAD
CA7156133 rs749243011	1882	V>L		No	ClinGen ExAC TOPMed gnomAD
CA7156132 rs749243011	1882	V>M		No	ClinGen ExAC TOPMed gnomAD
CA7156131 rs191415052	1887	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs375060514 CA258854511	1889	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA
TCGA novel	1889	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA389449925 rs1476873279	1890	S>C		No	ClinGen TOPMed
rs780751670 CA7156128	1891	D>E		No	ClinGen ExAC gnomAD
TCGA novel	1892	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs754492970 CA7156127	1895	T>N		No	ClinGen ExAC gnomAD
CA7156126 rs751026274	1896	K>N		No	ClinGen ExAC gnomAD
rs747946083 CA7156110	1898	L>F		No	ClinGen ExAC TOPMed gnomAD
CA389449136 rs1371024346	1908	I>V		No	ClinGen TOPMed
CA258841994 rs4274349	1915	R>T		No	ClinGen Ensembl
rs1227583504 CA389449072	1917	Y>H		No	ClinGen TOPMed
TCGA novel	1918	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs746665935 CA389449039	1921	I>M		No	ClinGen ExAC gnomAD
rs999359500 CA258841988	1923	P>S		No	ClinGen Ensembl
TCGA novel	1927	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1928	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1566717100 CA389448967	1932	V>G		No	ClinGen Ensembl
CA389448971 rs1449198910	1932	V>I		No	ClinGen TOPMed gnomAD
rs779478358 CA7156106	1933	I>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA258841982 rs374428578	1934	Y>H		No	ClinGen ESP TOPMed gnomAD
CA389448939 rs1162983623	1936	M>I		No	ClinGen gnomAD
rs757958326 CA7156105	1936	M>V		No	ClinGen ExAC TOPMed gnomAD
CA389448937 rs1422861518	1937	K>E		No	ClinGen gnomAD
rs1334480202 CA389448925	1938	N>K		No	ClinGen TOPMed
rs746367652 CA7156104	1938	N>Y		No	ClinGen ExAC gnomAD
rs1183584550 CA389448910	1940	M>R		No	ClinGen gnomAD
rs779326301 CA7156103	1941	F>V		No	ClinGen ExAC gnomAD
CA7156102 rs757618419	1942	S>G		No	ClinGen ExAC gnomAD
CA389448887 rs1190519488	1943	I>T		No	ClinGen gnomAD
rs1254978218 CA389448884	1944	Q>K		No	ClinGen TOPMed
CA7156101 rs754102933	1945	I>M		No	ClinGen ExAC gnomAD
CA258841970 rs1043511162	1945	I>T		No	ClinGen gnomAD
CA7156099 rs756348343	1949	P>L		No	ClinGen ExAC gnomAD
rs201048519 CA7156098	1950	E>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA389448812 rs1185997635	1950	E>Q		No	ClinGen TOPMed
CA7156079 rs756612149	1951	V>F		No	ClinGen ExAC gnomAD
COSM357223 rs756612149 CA7156080 COSM357224	1951	V>I	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA7156078 rs752934473	1953	F>L		No	ClinGen ExAC gnomAD
rs1294170367 CA389448609	1957	L>V		No	ClinGen gnomAD
rs1441624230 CA389448566	1959	D>G		No	ClinGen gnomAD
rs1353857471 CA389448537	1961	A>T		No	ClinGen TOPMed gnomAD
rs755269915 CA7156076	1962	I>V		No	ClinGen ExAC gnomAD
rs141420858 CA7156075	1964	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs1424080275 CA389448435	1967	V>I		No	ClinGen gnomAD
CA389448371 rs766489714	1968	L>I		No	ClinGen ExAC gnomAD
CA7156074 rs766489714	1968	L>V		No	ClinGen ExAC gnomAD
CA7156073 rs761601255	1971	M>I		No	ClinGen ExAC gnomAD
CA258840575 rs1044057888	1972	V>L		No	ClinGen TOPMed gnomAD
rs776691169 CA7156072	1973	R>K		No	ClinGen ExAC gnomAD
CA389448259 rs1191238033	1973	R>S		No	ClinGen TOPMed gnomAD
rs763875051 CA7156071	1974	A>T		No	ClinGen ExAC gnomAD
rs1236867247 CA389448246	1974	A>V		No	ClinGen TOPMed gnomAD
rs1594632683 CA389448205	1977	I>V		No	ClinGen Ensembl
CA389448166 rs1228382329	1978	N>K		No	ClinGen TOPMed
CA7156070 rs760504732	1979	A>S		No	ClinGen ExAC gnomAD
CA389448139 rs1458440931	1979	A>V		No	ClinGen TOPMed gnomAD
CA7156069 rs775103274	1981	R>C		No	ClinGen ExAC gnomAD
CA7156068 rs771665541	1981	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1218564269 CA389448043	1985	S>F		No	ClinGen TOPMed
rs1448949140 CA389447979	1989	L>F		No	ClinGen gnomAD
rs778462166 CA7156063	1993	F>C		No	ClinGen ExAC gnomAD
CA389497161 rs1452643882	1994	Y>C		No	ClinGen gnomAD
CA389497114 rs1566652437	1997	R>K		No	ClinGen Ensembl
rs1358291232 CA389497110	1998	A>T		No	ClinGen gnomAD
COSM215586 CA389497095 rs772869468	1999	R>*	Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs796052176 CA389497092	1999	R>Q		No	ClinGen TOPMed gnomAD
rs200980151 CA259293093	2003	T>A		No	ClinGen 1000Genomes TOPMed gnomAD
rs770381632 CA7156042	2004	I>V		No	ClinGen ExAC gnomAD
CA7156041 rs748666085	2006	Q>R		No	ClinGen ExAC gnomAD
rs781645466 CA7156040	2007	H>N		No	ClinGen ExAC TOPMed gnomAD
CA389497009 rs1393349680	2007	H>R		No	ClinGen TOPMed
CA7156039 rs769126867	2008	H>Y		No	ClinGen ExAC gnomAD
rs747195747 CA7156038	2009	L>V		No	ClinGen ExAC gnomAD
rs548229564 CA7156037	2012	T>I		No	ClinGen 1000Genomes ExAC gnomAD
rs758388724 CA7156036	2013	T>A		No	ClinGen ExAC gnomAD
rs947701198 CA259293091	2013	T>I		No	ClinGen TOPMed gnomAD
CA7156035 rs750455944	2016	D>G		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	2020	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1323242756 CA389496916	2021	V>F		No	ClinGen gnomAD
TCGA novel	2023	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1381481816 CA389496887	2025	A>V		No	ClinGen gnomAD
CA389496885 rs1337962107	2026	P>A		No	ClinGen gnomAD
CA7156032 rs752688782	2027	Y>C		No	ClinGen ExAC gnomAD
rs1364412160 CA389496871	2028	H>Y		No	ClinGen gnomAD
rs916445302 CA259293090	2030	L>*		No	ClinGen TOPMed
CA7156031 rs767211689	2031	P>S		No	ClinGen ExAC gnomAD
CA389496851 rs767211689	2031	P>T		No	ClinGen ExAC gnomAD
CA389496832 rs1242532303	2034	A>T		No	ClinGen TOPMed
CA259293087 rs566079460	2035	D>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7156029 rs566079460	2035	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD

1 associated diseases with Q6GYQ0

[MIM: 618797]: Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation (NEDHRIT)

An autosomal recessive disorder characterized by profound neurodevelopmental disability, muscular hypotonia, feeding abnormalities, recurrent fever episodes, infantile spasms, and moderate dysmorphic facial features. Brain imaging shows thin corpus or dysplastic corpus callosum, and additional unspecific abnormalities including gray matter heterotopias, ectopic posterior pituitary, signal abnormalities in basal ganglia, and stratum subependymale. {ECO:0000269|PubMed:32004447}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

An autosomal recessive disorder characterized by profound neurodevelopmental disability, muscular hypotonia, feeding abnormalities, recurrent fever episodes, infantile spasms, and moderate dysmorphic facial features. Brain imaging shows thin corpus or dysplastic corpus callosum, and additional unspecific abnormalities including gray matter heterotopias, ectopic posterior pituitary, signal abnormalities in basal ganglia, and stratum subependymale. {ECO:0000269|PubMed:32004447}. Note=The disease is caused by variants affecting the gene represented in this entry.

2 regional properties for Q6GYQ0

Type	Name	Position	InterPro Accession
domain	Rap/Ran-GAP domain	1796 - 2004	IPR000331
domain	Ral GTPase-activating protein subunit alpha/beta, N-terminal domain	551 - 679	IPR046859

Functions

		Description
EC Number
Subcellular Localization	Cytoplasm Nucleus	Translocated to the nucleus, when associated with TCF3/E12
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

2 GO annotations of cellular component

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

2 GO annotations of molecular function

Name	Definition
GTPase activator activity	Binds to and increases the activity of a GTPase, an enzyme that catalyzes the hydrolysis of GTP.
protein heterodimerization activity	Binding to a nonidentical protein to form a heterodimer.

2 GO annotations of biological process

Name	Definition
activation of GTPase activity	Any process that initiates the activity of an inactive GTPase through the replacement of GDP by GTP.
regulation of small GTPase mediated signal transduction	Any process that modulates the frequency, rate or extent of small GTPase mediated signal transduction.

6 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q5ZMV8	RAP1GAP2	Rap1 GTPase-activating protein 2	Gallus gallus (Chicken)	PR
Q684P5	RAP1GAP2	Rap1 GTPase-activating protein 2	Homo sapiens (Human)	PR
P49815	TSC2	Tuberin	Homo sapiens (Human)	PR
Q5SVL6	Rap1gap2	Rap1 GTPase-activating protein 2	Mus musculus (Mouse)	PR
Q6GYP7	Ralgapa1	Ral GTPase-activating protein subunit alpha-1	Mus musculus (Mouse)	PR
P86409	RALGAPA1	Ral GTPase-activating protein subunit alpha-1	Sus scrofa (Pig)	PR

10	20	30	40	50	60
MFSKKPHGDV	KKSTQKVLDT	KKDALTRLKH	LRIVIENAES	IDLKQFFDQH	FSHIYYVFFE
70	80	90	100	110	120
NFVTIEASLK	QKGHKSQREE	LDAILFIFEK	ILQLLPERIH	QRWQFHSIGL	ILKKLLHTGN
130	140	150	160	170	180
SLKIRREGVR	LFLLWLQALQ	NNCSKEQLWM	FSCLIPGFSA	PQSEHGPRTL	DNLINPPLNL
190	200	210	220	230	240
QETQVTIEEI	TPLVPPQSGD	KGQEDLTSYF	LEALLKYIVI	QVKSLEWKNK	ENQERGFSFL
250	260	270	280	290	300
FSHFKKYYLP	YIFPNICKEN	SLYHPILDIP	QMRPKPHYVV	IKKDAETNEA	IYCTKEPFIK
310	320	330	340	350	360
ARVIVIRWLV	SFWLEPKPHT	GPHIPGMEGE	VLPKNIQRAA	ASLVSREESK	NDNADKTDRT
370	380	390	400	410	420
TEPEQSHSNT	STLTEREPSS	SSLCSIDEEH	LTDIEIVRRV	FSSKRSNVNF	VTEIFRQAFL
430	440	450	460	470	480
LPICEAAAMR	KVVKVYQEWI	QQEEKPLFMQ	EPEEIVITSS	DLPCIENVTD	HDISMEEGEK
490	500	510	520	530	540
REEENGTNTA	DHVRNSSWAK	NGSYQGALHN	ASEEATEQNI	RAGTQAVLQV	FIINSSNIFL
550	560	570	580	590	600
LEPANEIKNL	LDEHTDMCKR	ILNIYRYMVV	QVSMDKKTWE	QMLLVLLRVT	ESVLKMPSQA
610	620	630	640	650	660
FLQFQGKKNM	TLAGRLAGPL	FQTLIVAWIK	ANLNVYISRE	LWDDLLSVLS	SLTYWEELAT
670	680	690	700	710	720
EWSLTMETLT	KVLARNLYSL	DLSDLPLDKL	SEQKQKKHKG	KGVGHEFQKV	SVDKSFSRGW
730	740	750	760	770	780
SRDQPGQAPM	RQRSATTTGS	PGTEKARSIV	RQKTVDIDDA	QILPRSTRVR	HFSQSEETGN
790	800	810	820	830	840
EVFGALNEEQ	PLPRSSSTSD	ILEPFTVERA	KVNKEDMSQK	LPPLNSDIGG	SSANVPDLMD
850	860	870	880	890	900
EFIAERLRSG	NASTMTRRGS	SPGSLEIPKD	LPDILNKQNQ	MRPIDDPGVP	SEWTSPASAG
910	920	930	940	950	960
SSDLISSDSH	SDSFSAFQYD	GRKFDNFGFG	TDTGVTSSAD	VDSGSGHHQS	AEEQEVASLT
970	980	990	1000	1010	1020
TLHIDSETSS	LNQQAFSAEV	ATITGSESAS	PVHSPLGSRS	QTPSPSTLNI	DHMEQKDLQL
1030	1040	1050	1060	1070	1080
DEKLHHSVLQ	TPDDLEISEF	PSECCSVMAG	GTLTGWHADV	ATVMWRRMLG	ILGDVNSIMD
1090	1100	1110	1120	1130	1140
PEIHAQVFDY	LCELWQNLAK	IRDNLGISTD	NLTSPSPPVL	IPPLRILTPW	LFKATMLTDK
1150	1160	1170	1180	1190	1200
YKQGKLHAYK	LICNTMKRRQ	DVSPNRDFLT	HFYNIMHCGL	LHIDQDIVNT	IIKHCSPQFF
1210	1220	1230	1240	1250	1260
SLGLPGATML	IMDFIVAAGR	VASSAFLNAP	RVEAQVLLGS	LVCFPNLYCE	LPSLHPNIPD
1270	1280	1290	1300	1310	1320
VAVSQFTDVK	ELIIKTVLSS	ARDEPSGPAR	CVALCSLGIW	ICEELVHESH	HPQIKEALNV
1330	1340	1350	1360	1370	1380
ICVSLKFTNK	TVAHVACNML	HMLVHYVPRL	QIYQPDSPLK	IIQILIATIT	HLLPSTEASS
1390	1400	1410	1420	1430	1440
YEMDKRLVVS	LLLCLLDWIM	ALPLKTLLQP	FHATGAESDK	TEKSVLNCIY	KVLHGCVYGA
1450	1460	1470	1480	1490	1500
QCFSNPRYFP	MSLSDLASVD	YDPFMHLESL	KEPEPLHSPD	SERSSKLQPV	TEVKTQMQHG
1510	1520	1530	1540	1550	1560
LISIAARTVI	THLVNHLGHY	PMSGGPAMLT	SQVCENHDNH	YSESTELSPE	LFESPNIQFF
1570	1580	1590	1600	1610	1620
VLNNTTLVSC	IQIRSEENMP	GGGLSAGLAS	ANSNVRIIVR	DLSGKYSWDS	AILYGPPPVS
1630	1640	1650	1660	1670	1680
GLSEPTSFML	SLSHQEKPEE	PPTSNECLED	ITVKDGLSLQ	FKRFRETVPT	WDTIRDEEDV
1690	1700	1710	1720	1730	1740
LDELLQYLGV	TSPECLQRTG	ISLNIPAPQP	VCISEKQEND	VINAILKQHT	EEKEFVEKHF
1750	1760	1770	1780	1790	1800
NDLNMKAVEQ	DEPIPQKPQS	AFYYCRLLLS	ILGMNSWDKR	RSFHLLKKNE	KLLRELRNLD
1810	1820	1830	1840	1850	1860
SRQCRETHKI	AVFYVAEGQE	DKHSILTNTG	GSQAYEDFVA	GLGWEVNLTN	HCGFMGGLQK
1870	1880	1890	1900	1910	1920
NKSTGLTTPY	FATSTVEVIF	HVSTRMPSDS	DDSLTKKLRH	LGNDEVHIVW	SEHTRDYRRG
1930	1940	1950	1960	1970	1980
IIPTEFGDVL	IVIYPMKNHM	FSIQIMKKPE	VPFFGPLFDG	AIVNGKVLPI	MVRATAINAS
1990	2000	2010	2020	2030
RALKSLIPLY	QNFYEERARY	LQTIVQHHLE	PTTFEDFAAQ	VFSPAPYHHL	PSDADH