AiPD: Autoinhibited Protein Database

Q4ADV7

Gene name	RIC1
Protein name	Guanine nucleotide exchange factor subunit RIC1
Names	Connexin-43-interacting protein of 150 kDa, Protein RIC1 homolog, RAB6A-GEF complex partner protein 1
Species	Homo sapiens (Human)
KEGG Pathway	hsa:57589
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

980-1054 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

980-1054 (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 Q4ADV7

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q4ADV7-F1	Predicted				AlphaFoldDB

1217 variants for Q4ADV7

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
VAR_083541 CA372853873 rs763515150 RCV000999463	1265	R>P	Catifa syndrome CATIFA; patient cells contain normally spliced transcripts corresponding to protein variant P-1265 but also transcripts that fail to splice due to intron 24 retention leading to a stop codon at position 1266; loss-of-function variant affecting procollagen secretion [ClinVar, UniProt]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD UniProt
VAR_083542	1266	Y>del	CATIFA; patient cells contain transcripts that fail to splice due to intron 24 retention leading to a stop codon at position 1266, but also normally spliced transcripts corresponding to protein variant P-1265; loss-of-function variant affecting procollagen secretion [UniProt]	Yes	UniProt
CA372917155 rs1159897410	4	L>M		No	ClinGen TOPMed gnomAD
CA372917156 rs1239900166	4	L>Q		No	ClinGen TOPMed
CA188377304 rs900148252	5	S>T		No	ClinGen TOPMed
CA372917169 rs1344330223	6	G>V		No	ClinGen gnomAD
rs1451394478 CA372917180	7	W>C		No	ClinGen gnomAD
rs865788531 CA188377310	9	K>T		No	ClinGen TOPMed gnomAD
rs1292743997 CA372917209	12	L>P		No	ClinGen gnomAD
rs1379818620 CA372917221	14	P>S		No	ClinGen TOPMed
CA188377316 rs989928719	16	G>R		No	ClinGen TOPMed gnomAD
rs751577861 CA4974099	18	P>L		No	ClinGen ExAC gnomAD
CA188377318 rs751577861	18	P>R		No	ClinGen ExAC gnomAD
CA372917263 rs1485777204	21	A>S		No	ClinGen gnomAD
CA372917268 rs890301381	22	P>A		No	ClinGen TOPMed gnomAD
CA188377321 rs890301381	22	P>T		No	ClinGen TOPMed gnomAD
rs1392249548 CA372917281	24	H>D		No	ClinGen gnomAD
CA372917286 rs1473296304	24	H>Q		No	ClinGen gnomAD
rs1177650078 CA372917288	25	V>I		No	ClinGen TOPMed gnomAD
rs1383410362 CA372917294	26	Q>E		No	ClinGen TOPMed
CA4974100 rs761666771	26	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA188377326 rs925546557	28	D>A		No	ClinGen Ensembl
CA372917318 rs1586846383	29	P>R		No	ClinGen Ensembl
CA372917321 rs1177924825	30	Q>E		No	ClinGen TOPMed gnomAD
rs767466120 CA372917327	30	Q>H		No	ClinGen ExAC gnomAD
CA372917328 rs1435555257	31	R>G		No	ClinGen gnomAD
CA372917339 rs1312511255	32	A>V		No	ClinGen gnomAD
rs754075935 CA4974102	33	F>L		No	ClinGen ExAC gnomAD
rs1280599782 CA372917362	36	V>M		No	ClinGen TOPMed gnomAD
rs1244779649 CA372917373	38	A>T		No	ClinGen TOPMed
CA372917407 rs1299054037	43	S>T		No	ClinGen TOPMed
rs1563853595 CA918401629	46	Y>*		No	ClinGen Ensembl
rs1388676721 CA372917432	46	Y>C		No	ClinGen TOPMed
CA372917437 rs1252208295	47	S>C		No	ClinGen TOPMed gnomAD
rs1277759147 CA372917442	47	S>R		No	ClinGen gnomAD
rs1483720109 CA372917445	48	R>Q		No	ClinGen gnomAD
CA372846865 rs1418391229	53	I>V		No	ClinGen TOPMed
CA372846874 rs1191491924	54	V>A		No	ClinGen gnomAD
rs1586890736 CA372846882	56	Y>N		No	ClinGen Ensembl
CA372846894 rs1249705138	57	K>R		No	ClinGen gnomAD
rs12686794 CA4974118	58	E>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1252812583 CA372846902	58	E>V		No	ClinGen TOPMed gnomAD
CA188542135 rs1005856589	59	P>A		No	ClinGen TOPMed
rs769270863 CA4974123	59	P>H		No	ClinGen ExAC gnomAD
CA4974121 rs769270863	59	P>L		No	ClinGen ExAC gnomAD
CA4974122 rs769270863	59	P>R		No	ClinGen ExAC gnomAD
CA372846931 rs761895871	63	S>P		No	ClinGen ExAC TOPMed gnomAD
rs761895871 CA4974126	63	S>T		No	ClinGen ExAC TOPMed gnomAD
rs1395825216 CA372846937	64	T>A		No	ClinGen gnomAD
CA372846940 rs767413293	64	T>I		No	ClinGen ExAC gnomAD
CA4974127 rs767413293	64	T>S		No	ClinGen ExAC gnomAD
rs560179483 CA4974129	65	Q>H		No	ClinGen 1000Genomes ExAC gnomAD
CA4974128 rs373615004	65	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA188542197 rs1056467720	68	S>C		No	ClinGen gnomAD
CA372846965 rs1056467720	68	S>Y		No	ClinGen gnomAD
CA372846978 rs1336834813	70	K>T		No	ClinGen gnomAD
CA372846992 rs1586890870	72	A>S		No	ClinGen Ensembl
rs1273324377 CA372847003	73	E>D		No	ClinGen TOPMed gnomAD
rs753007308 CA4974131	75	R>K		No	ClinGen ExAC gnomAD
rs1211816190 CA372847021	76	P>S		No	ClinGen gnomAD
rs916133903 CA188542211	78	S>G		No	ClinGen Ensembl
CA372847045 rs1447381337	79	T>I		No	ClinGen gnomAD
CA188542228 rs758453573	80	M>K		No	ClinGen ExAC TOPMed gnomAD
CA4974132 rs758453573	80	M>T		No	ClinGen ExAC TOPMed gnomAD
rs765296814 CA188542232	82	A>P		No	ClinGen Ensembl
CA372847060 rs765296814	82	A>T		No	ClinGen Ensembl
CA372847067 rs1474442056	83	V>I		No	ClinGen TOPMed gnomAD
CA372847065 rs1474442056	83	V>L		No	ClinGen TOPMed gnomAD
CA4974165 rs773005539	85	T>A		No	ClinGen ExAC gnomAD
CA4974166 rs747029814	85	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA372852944 rs747029814	85	T>R		No	ClinGen ExAC TOPMed gnomAD
rs371717422 CA4974168	86	A>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA4974169 rs371717422	86	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA188565776 rs371717422	86	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs761849561 CA4974172	90	I>M		No	ClinGen ExAC TOPMed gnomAD
CA4974171 rs549130239	90	I>T		No	ClinGen 1000Genomes ExAC gnomAD
rs985846092 CA188565788	90	I>V		No	ClinGen Ensembl
rs750877398 CA4974174	92	F>L		No	ClinGen ExAC TOPMed gnomAD
rs1438896010 CA372853030	93	F>I		No	ClinGen gnomAD
CA4974176 rs184280267	94	H>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs754193817 CA4974177	94	H>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1323702877 CA372853053	95	I>V		No	ClinGen TOPMed
rs973289664 CA188565829	96	T>I		No	ClinGen TOPMed
CA4974178 rs755429039	97	S>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1432537271 CA372853084	98	T>A		No	ClinGen gnomAD
CA4974179 rs778680508	98	T>I		No	ClinGen ExAC TOPMed gnomAD
rs1396660138 CA372853093	99	R>G		No	ClinGen gnomAD
rs1279877182 CA372853100	99	R>S		No	ClinGen TOPMed
CA4974180 rs752450297 CA4974181	100	G>R		No	ClinGen ExAC gnomAD
rs777409360 CA4974182	100	G>V		No	ClinGen ExAC gnomAD
rs1444160231 CA372853135	102	K>R		No	ClinGen TOPMed
CA188565844 rs931956772	103	Y>C		No	ClinGen TOPMed
CA188565852 rs776206249	106	E>Q		No	ClinGen Ensembl
CA372853197 rs375748389	107	P>Q		No	ClinGen TOPMed gnomAD
CA188565853 rs375748389	107	P>R		No	ClinGen TOPMed gnomAD
CA372853196 rs1441391574	107	P>S		No	ClinGen gnomAD
CA4974184 rs770845191	108	V>M		No	ClinGen ExAC TOPMed gnomAD
rs781015472 CA4974185	109	Y>H		No	ClinGen ExAC gnomAD
rs769615916 CA4974187	110	P>A		No	ClinGen ExAC gnomAD
rs139322005 CA4974188	111	K>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4974213 rs765844029	113	S>N		No	ClinGen ExAC TOPMed gnomAD
rs1416889827 CA372848369	114	P>L		No	ClinGen TOPMed
rs1336498113 CA372848366	114	P>S		No	ClinGen TOPMed gnomAD
rs146181953 CA4974214	115	Q>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA4974215 rs201052520	115	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA188547470 rs921258268	115	Q>P		No	ClinGen TOPMed
rs751712102 CA188547476	117	K>N		No	ClinGen Ensembl
CA372848419 rs1218357767	118	G>E		No	ClinGen gnomAD
CA372848435 rs1485337663	119	T>I		No	ClinGen gnomAD
rs756768834 CA372848454	121	H>N		No	ClinGen ExAC gnomAD
rs1261245402 CA372848456	121	H>P		No	ClinGen TOPMed
rs756768834 CA4974218	121	H>Y		No	ClinGen ExAC gnomAD
CA4974219 rs767071332	123	K>R		No	ClinGen ExAC gnomAD
CA4974221 rs755974165	124	E>K		No	ClinGen ExAC gnomAD
CA4974222 rs755974165	124	E>Q		No	ClinGen ExAC gnomAD
rs1420861200 CA372848505	125	E>K		No	ClinGen TOPMed gnomAD
rs1235732467 CA372848521	126	Q>*		No	ClinGen TOPMed
CA372848534 rs1453312084	127	C>R		No	ClinGen gnomAD
rs983340045 CA188547516	128	A>V		No	ClinGen TOPMed
CA372848566 rs1377309522	129	P>L		No	ClinGen gnomAD
CA188547518 rs754757420	130	A>P		No	ClinGen ExAC TOPMed gnomAD
rs754757420 CA4974224	130	A>T		No	ClinGen ExAC TOPMed gnomAD
CA372848596 rs1244042514	132	N>I		No	ClinGen Ensembl
rs1308142041 CA372848605	133	L>*		No	ClinGen gnomAD
CA372848620 rs1332772417	134	E>G		No	ClinGen TOPMed
rs1587000488 CA372848616	134	E>Q		No	ClinGen Ensembl
CA188547539 rs975910614	135	M>I		No	ClinGen TOPMed gnomAD
CA188547540 rs921821578	136	R>K		No	ClinGen TOPMed gnomAD
rs1218604749 CA372848656	137	K>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA372848662 rs1282061792	137	K>R		No	ClinGen gnomAD
rs1173779792 CA372848674	138	I>T		No	ClinGen TOPMed
rs1240843850 CA372848681	139	L>M		No	ClinGen TOPMed gnomAD
CA372848690 rs1563920589	140	D>N		No	ClinGen Ensembl
rs372765329 CA4974228	142	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA372848748 rs1235287556	144	P>S		No	ClinGen gnomAD
CA372848744 rs1235287556	144	P>T		No	ClinGen gnomAD
CA372848767 rs1481575213	145	I>M		No	ClinGen TOPMed gnomAD
rs931690504 CA372848771 CA372848769	146	M>L		No	ClinGen TOPMed gnomAD
rs931690504 CA188547543	146	M>V		No	ClinGen TOPMed gnomAD
rs1406885414 CA372848790	147	S>C		No	ClinGen gnomAD
CA4974251 rs769059656	147	S>R		No	ClinGen ExAC gnomAD
rs142541723 CA188551452	148	L>F		No	ClinGen ESP ExAC gnomAD
CA372850260 rs1315977666	149	Q>H		No	ClinGen gnomAD
CA372850253 rs1305062266	149	Q>K		No	ClinGen TOPMed
rs1375741017 CA372850297	155	L>V		No	ClinGen TOPMed
rs1357228187 CA372850310	157	V>D		No	ClinGen TOPMed
TCGA novel	159	T>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA372850329 rs1198366068	160	S>C		No	ClinGen TOPMed gnomAD
rs1198366068 CA372850330	160	S>F		No	ClinGen TOPMed gnomAD
CA4974255 rs772879089	161	D>H		No	ClinGen ExAC
rs1245232039 CA372850334	161	D>V		No	ClinGen gnomAD
rs1476535216 CA372850345	163	L>V		No	ClinGen TOPMed gnomAD
CA4974256 rs760144699	165	H>R		No	ClinGen ExAC gnomAD
CA372850367 rs1167738422	166	L>R		No	ClinGen gnomAD
CA4974257 rs560470280	166	L>V		No	ClinGen 1000Genomes ExAC gnomAD
CA188551492 rs936601053	167	I>L		No	ClinGen TOPMed gnomAD
rs377318474 CA188551520	167	I>T		No	ClinGen ESP TOPMed
TCGA novel	168	H>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	170	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1053991681 CA188551524	171	G>E		No	ClinGen Ensembl
rs753813358 CA4974259	172	M>R		No	ClinGen ExAC gnomAD
rs753813358 CA4974258	172	M>T		No	ClinGen ExAC gnomAD
rs765238690 CA372850422	174	N>K		No	ClinGen ExAC gnomAD
CA372850436 rs1346576356	176	R>S		No	ClinGen gnomAD
CA372850443 rs1269075391	177	K>N		No	ClinGen gnomAD
rs752385433 CA4974261	177	K>R		No	ClinGen ExAC gnomAD
CA372850449 rs1235000704	178	A>G		No	ClinGen gnomAD
rs1337783342 CA372850444	178	A>T		No	ClinGen gnomAD
rs758300132 CA4974262	179	I>V		No	ClinGen ExAC TOPMed gnomAD
rs527434064 CA4974263	182	C>G		No	ClinGen 1000Genomes ExAC gnomAD
rs527434064 CA4974264	182	C>R		No	ClinGen 1000Genomes ExAC gnomAD
CA372850476 rs1587014253	183	T>S		No	ClinGen Ensembl
TCGA novel	189	D>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4974267 rs749389851	191	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA372850531 rs1216855469	191	Q>L		No	ClinGen gnomAD
CA372850536 rs1187261200	192	S>A		No	ClinGen TOPMed
CA372850541 rs1190652445	193	S>P		No	ClinGen gnomAD
rs1563924851 CA372850549	194	R>T		No	ClinGen Ensembl
TCGA novel	195	V>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4974295 rs373625803	199	L>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA372851128 rs1193881751	200	G>C		No	ClinGen TOPMed gnomAD
CA4974296 rs769396873	200	G>D		No	ClinGen ExAC gnomAD
rs149713037 CA4974298	202	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs149713037 CA4974299	202	T>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs774226021 CA4974300	203	D>G		No	ClinGen ExAC TOPMed gnomAD
rs1587015305 CA372851181	203	D>N		No	ClinGen Ensembl
CA4974302 rs376515492	204	V>I		No	ClinGen ExAC TOPMed gnomAD
rs376515492 CA188551900	204	V>L		No	ClinGen ExAC TOPMed gnomAD
rs754129159 CA4974303	205	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA372851232 rs1330554804	207	R>G		No	ClinGen gnomAD
rs560447749 CA188551914	207	R>T		No	ClinGen 1000Genomes gnomAD
CA188551925 rs560810397	208	D>H		No	ClinGen ExAC gnomAD
CA4974306 rs560810397	208	D>N		No	ClinGen ExAC gnomAD
rs758846599 CA4974307	213	A>T		No	ClinGen ExAC gnomAD
CA188551934 rs1029794779	213	A>V		No	ClinGen Ensembl
CA372851330 rs1256482248	215	L>H		No	ClinGen gnomAD
CA372851334 rs1587015453	216	D>N		No	ClinGen Ensembl
rs1309684332 CA372851400	222	F>Y		No	ClinGen TOPMed
rs954089478 CA188551947	223	N>D		No	ClinGen Ensembl
CA4974309 rs747338191	223	N>S		No	ClinGen ExAC TOPMed gnomAD
CA4974310 rs757683871	224	D>Y		No	ClinGen ExAC gnomAD
CA372851467 rs745594567	228	G>A		No	ClinGen ExAC gnomAD
rs745594567 CA4974312	228	G>E		No	ClinGen ExAC gnomAD
CA372851478 rs1168464678	229	F>C		No	ClinGen gnomAD
CA188551980 rs928089980	231	T>K		No	ClinGen TOPMed gnomAD
rs1292770261 CA372851505	232	P>T		No	ClinGen gnomAD
CA4974313 rs769180682	233	V>L		No	ClinGen ExAC gnomAD
CA372851528 rs1297806381	234	S>*		No	ClinGen gnomAD
rs368039428 CA4974316	235	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA372851542 rs1454053442	235	S>R		No	ClinGen TOPMed
CA372851549 rs1365151061	236	R>T		No	ClinGen TOPMed
CA372851576 rs1276877091	238	T>I		No	ClinGen gnomAD
CA4974318 rs761480642	239	A>E		No	ClinGen ExAC gnomAD
CA4974339 rs768849364	241	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA4974341 rs147866755	243	H>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA188565064 rs779272822	243	H>R		No	ClinGen Ensembl
CA372853285 rs1377364164	243	H>Y		No	ClinGen gnomAD
rs748736001 CA4974342	247	P>L		No	ClinGen ExAC TOPMed gnomAD
CA372853311 rs1377381435	247	P>S		No	ClinGen gnomAD
rs763002222 CA4974343	248	Q>E		No	ClinGen ExAC gnomAD
CA4974344 rs764219152	248	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA4974346 rs762311454	250	V>D		No	ClinGen ExAC TOPMed gnomAD
rs1440979230 CA372853344	252	D>G		No	ClinGen gnomAD
CA4974348 rs750747707	253	G>R		No	ClinGen ExAC gnomAD
rs887028227 CA188565111	254	T>M		No	ClinGen gnomAD
rs1357562904 CA372853366	256	V>I		No	ClinGen TOPMed
CA372853372 rs1481596826	257	A>T		No	ClinGen gnomAD
rs1226556469 CA372853382	258	V>A		No	ClinGen TOPMed
rs148933727 CA4974349	258	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	259	N>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs779820954 CA4974350	260	N>S		No	ClinGen ExAC TOPMed gnomAD
rs748551723 CA4974351	263	R>*	Variant assessed as Somatic; 4.643e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs143696029 CA4974352	263	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs747627206 CA4974354	265	M>T		No	ClinGen ExAC gnomAD
CA372853432 rs1347590233	266	A>S		No	ClinGen TOPMed
rs777603638 CA4974356	269	C>F		No	ClinGen ExAC gnomAD
rs1194980045 CA372854315	274	V>L		No	ClinGen gnomAD
rs757044532 CA372854329	276	V>F		No	ClinGen ExAC gnomAD
rs757044532 CA4974380	276	V>I		No	ClinGen ExAC gnomAD
rs780900242 CA4974381	279	I>M		No	ClinGen ExAC TOPMed gnomAD
CA4974382 rs745673349	280	D>G		No	ClinGen ExAC gnomAD
rs745673349 CA4974383	280	D>V		No	ClinGen ExAC gnomAD
rs1400052149 CA372854399	286	M>I		No	ClinGen gnomAD
CA4974386 rs772093288	288	L>P		No	ClinGen ExAC TOPMed gnomAD
CA372854410 rs772093288	288	L>R		No	ClinGen ExAC TOPMed gnomAD
rs1338318448 CA372854408	288	L>V		No	ClinGen TOPMed gnomAD
rs761329852 CA4974388	289	S>A		No	ClinGen ExAC gnomAD
CA4974390 rs766996121	293	E>D		No	ClinGen ExAC gnomAD
CA188570451 rs1010497897	293	E>Q		No	ClinGen Ensembl
rs868662103 CA188570460	294	L>I		No	ClinGen Ensembl
CA4974391 rs760011092	294	L>R		No	ClinGen ExAC gnomAD
rs974452799 CA188570480	295	T>R		No	ClinGen TOPMed
rs1262638454 CA372854455	296	A>S		No	ClinGen gnomAD
CA372854456 rs1369410754	296	A>V		No	ClinGen TOPMed
TCGA novel	299	Y>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4974395 rs763581797	300	P>A		No	ClinGen ExAC gnomAD
CA372854964 rs1334248650	302	I>L		No	ClinGen gnomAD
CA372854976 rs1275576135	302	I>M		No	ClinGen gnomAD
CA372854971 rs1235490467	302	I>T		No	ClinGen gnomAD
TCGA novel	303	W>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA372855012 rs1344918796	305	K>*		No	ClinGen TOPMed gnomAD
rs1344918796 CA372855013	305	K>E		No	ClinGen TOPMed gnomAD
CA372855051 rs1475362126	308	A>V		No	ClinGen gnomAD
rs1484994231 CA372855068	310	K>E		No	ClinGen TOPMed
CA372855080 rs1587085913	311	L>V		No	ClinGen Ensembl
CA4974436 rs758491007	318	N>S		No	ClinGen ExAC gnomAD
rs564066951 CA4974437	319	S>N		No	ClinGen 1000Genomes ExAC gnomAD
rs1189614980 CA372855192	320	V>I		No	ClinGen TOPMed gnomAD
CA372855208 rs1313517915	321	V>A		No	ClinGen TOPMed
CA188574356 rs575007227	322	I>V		No	ClinGen Ensembl
CA4974438 rs747055659	324	T>S		No	ClinGen ExAC gnomAD
CA372855276 rs1476960619	326	E>D		No	ClinGen gnomAD
TCGA novel	326	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs141009627 CA4974439	326	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA372855279 rs1172746271	327	Y>H		No	ClinGen gnomAD
CA188574397 rs371214803	330	L>V		No	ClinGen TOPMed gnomAD
CA372855345 rs1329112848	332	L>F		No	ClinGen gnomAD
TCGA novel	337	G>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1387812496 CA372855397	338	A>G		No	ClinGen TOPMed gnomAD
CA188574402 rs984896567	338	A>S		No	ClinGen TOPMed gnomAD
CA372855394 rs984896567	338	A>T		No	ClinGen TOPMed gnomAD
CA4974441 rs746431741	339	Q>R		No	ClinGen ExAC gnomAD
rs1222170448 CA372855417	341	I>M		No	ClinGen gnomAD
CA372855418 rs1280682032	342	C>S		No	ClinGen gnomAD
CA372855469 rs775662535	349	A>D		No	ClinGen ExAC TOPMed gnomAD
CA4974443 rs775662535	349	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA4974465 rs773975974	350	Y>C		No	ClinGen ExAC gnomAD
rs750573725 CA4974466	351	R>G		No	ClinGen ExAC TOPMed gnomAD
rs772537781 CA4974468	355	T>P		No	ClinGen ExAC TOPMed gnomAD
CA188575168 rs963954292	355	T>S		No	ClinGen TOPMed gnomAD
CA372855536 rs1248567070	358	D>Y		No	ClinGen TOPMed
rs766196645 CA4974470	359	P>L		No	ClinGen ExAC gnomAD
CA372855545 rs766196645	359	P>R		No	ClinGen ExAC gnomAD
rs556847861 CA4974469	359	P>S		No	ClinGen 1000Genomes ExAC gnomAD
CA372855542 rs556847861	359	P>T		No	ClinGen 1000Genomes ExAC gnomAD
CA4974471 rs753864671	360	L>F		No	ClinGen ExAC gnomAD
CA372855546 rs753864671	360	L>I		No	ClinGen ExAC gnomAD
CA372855570 rs1380123972	363	N>I		No	ClinGen gnomAD
CA188575177 rs563113259	365	M>V		No	ClinGen TOPMed gnomAD
CA372855607 rs1367706120	366	S>R		No	ClinGen gnomAD
rs1218525239 CA372855620	368	G>D		No	ClinGen gnomAD
CA4974499 rs775379063	369	A>T		No	ClinGen ExAC gnomAD
TCGA novel	369	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs756130731 CA4974503	372	Y>C		No	ClinGen ExAC gnomAD
CA4974502 rs750704792	372	Y>N		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	375	W>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	376	V>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA372855677 rs1489499927	377	I>V		No	ClinGen TOPMed
rs560272642 CA4974506	378	S>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4974508 rs748470927	379	G>E		No	ClinGen ExAC gnomAD
CA4974507 rs372706997	379	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs758812263 CA4974509	382	S>C		No	ClinGen ExAC TOPMed gnomAD
rs758812263 CA372855712	382	S>F		No	ClinGen ExAC TOPMed gnomAD
rs777279235 CA4974510	383	Q>P		No	ClinGen ExAC gnomAD
CA372855733 rs1348440053	385	T>I		No	ClinGen gnomAD
rs746743241 CA4974511	387	I>V		No	ClinGen ExAC gnomAD
rs1212790102 CA372855760	389	S>C		No	ClinGen TOPMed gnomAD
rs1212790102 CA372855761	389	S>F		No	ClinGen TOPMed gnomAD
rs199560727 CA4974512	390	D>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs199560727 CA4974513	390	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs138987836 CA4974514	392	R>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA372855783 rs1196006885	393	S>N		No	ClinGen gnomAD
rs769818525 CA372855788	394	V>I		No	ClinGen ExAC TOPMed gnomAD
CA4974515 rs769818525	394	V>L		No	ClinGen ExAC TOPMed gnomAD
rs762816164 CA4974517	395	V>D		No	ClinGen ExAC gnomAD
CA372855810 rs1342290522	397	Q>R		No	ClinGen gnomAD
CA372855815 rs1343461428	398	P>S		No	ClinGen TOPMed
rs1277270953 CA372855821	399	S>G		No	ClinGen gnomAD
rs1359639242 CA372855824	399	S>N		No	ClinGen gnomAD
CA372855826 rs747546016	399	S>R		No	ClinGen ExAC TOPMed gnomAD
CA372855829 rs1292259362	400	I>V		No	ClinGen gnomAD
rs777063664 CA4974520	402	L>I		No	ClinGen ExAC TOPMed gnomAD
rs766522043 CA4974521	403	F>L		No	ClinGen ExAC TOPMed gnomAD
rs753863995 CA4974522	404	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs1178622986 CA372855853	404	Q>K		No	ClinGen TOPMed gnomAD
TCGA novel	405	F>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs868750455 CA188577495	406	I>L		No	ClinGen Ensembl
rs921736024 CA188577520	408	S>I		No	ClinGen Ensembl
CA4974523 rs759643744	409	V>A		No	ClinGen ExAC gnomAD
CA188577547 rs931823786	409	V>I		No	ClinGen TOPMed
rs765700538 CA4974524	410	L>F		No	ClinGen ExAC TOPMed gnomAD
CA4974525 rs142199764	412	V>I		No	ClinGen ESP ExAC gnomAD
rs571347231 CA4974526	415	C>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4974527 rs778134514	415	C>Y		No	ClinGen ExAC gnomAD
CA372855936 rs1420180253	416	M>I		No	ClinGen gnomAD
CA188577573 rs979285555	416	M>T		No	ClinGen TOPMed gnomAD
CA372855930 rs1161058813	416	M>V		No	ClinGen gnomAD
CA4974552 rs755676672	418	N>D		No	ClinGen ExAC TOPMed gnomAD
rs190154814 CA4974553	418	N>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs755676672 CA372855958	418	N>Y		No	ClinGen ExAC TOPMed gnomAD
rs748817456 CA4974554	419	Q>E		No	ClinGen ExAC TOPMed gnomAD
rs1221449999 CA372855968	419	Q>L		No	ClinGen gnomAD
rs1461170781 CA372855980	421	Q>E		No	ClinGen gnomAD
rs562622362 CA4974555	422	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	425	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4974556 rs145900077	425	Q>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1222478100 CA372856012	426	G>S		No	ClinGen TOPMed
CA4974557 rs747943253	427	E>D		No	ClinGen ExAC TOPMed gnomAD
rs1180463218 CA372856025	428	D>N		No	ClinGen gnomAD
rs771811202 CA4974558	429	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs776830389 CA4974559	429	R>H		No	ClinGen ExAC TOPMed gnomAD
CA372856033 rs771811202	429	R>S		No	ClinGen ExAC TOPMed gnomAD
rs1002061773 CA188578644	431	Y>F		No	ClinGen TOPMed
rs770019577 CA4974561	432	L>W		No	ClinGen ExAC gnomAD
CA372856067 rs1402710795	434	C>S		No	ClinGen gnomAD
rs762977142 CA4974563	434	C>Y		No	ClinGen ExAC TOPMed gnomAD
rs764635088 CA4974564	435	G>A		No	ClinGen ExAC TOPMed gnomAD
rs1439173877 CA372856084	436	E>D		No	ClinGen TOPMed gnomAD
CA188578682 rs149463014	437	A>D		No	ClinGen ESP TOPMed gnomAD
CA4974565 rs774773150	437	A>S		No	ClinGen ExAC gnomAD
CA4974566 rs762221334	438	S>L		No	ClinGen ExAC
rs768057439 CA4974567	440	T>S		No	ClinGen ExAC TOPMed gnomAD
CA4974570 rs143886234	443	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4974569 rs143886234	443	P>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA372856129 rs10975269	444	R>K		No	ClinGen Ensembl
CA188578742 rs10975269	444	R>T		No	ClinGen Ensembl
rs41280731 CA4974571	446	S>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1431642143 CA372856149	447	S>L		No	ClinGen TOPMed
CA372856152 rs1247738589	448	T>A		No	ClinGen TOPMed gnomAD
CA372856155 rs1452860607	448	T>K		No	ClinGen gnomAD
CA188578752 rs768914744	449	H>R		No	ClinGen TOPMed
rs768734697 CA4974574	450	S>C		No	ClinGen ExAC TOPMed gnomAD
rs768734697 CA188578766	450	S>F		No	ClinGen ExAC TOPMed gnomAD
CA4974573 rs778886720	450	S>P		No	ClinGen ExAC gnomAD
rs369176218 CA372856179	452	H>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA4974576 rs369176218	452	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA4974575 rs758336440	452	H>Y		No	ClinGen ExAC gnomAD
rs371940142 CA4974579	453	K>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs371940142 CA4974578	453	K>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4974581 rs768680032	454	P>R		No	ClinGen ExAC gnomAD
TCGA novel	455	S>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs142276955 CA4974582	455	S>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs762156817 CA4974584	456	R>*		No	ClinGen ExAC gnomAD
rs762156817 CA372856200	456	R>G		No	ClinGen ExAC gnomAD
rs147403256 CA4974585	456	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA4974586 rs761151819	458	K>E		No	ClinGen ExAC TOPMed gnomAD
CA4974587 rs766097669	458	K>N		No	ClinGen ExAC TOPMed gnomAD
rs1226183162 CA372856230	460	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA188578846 rs976946223	461	F>I		No	ClinGen TOPMed
rs1358086961 CA372856237	461	F>L		No	ClinGen gnomAD
rs753482806 CA4974588	462	A>P		No	ClinGen ExAC gnomAD
CA188578877 rs868080235	463	D>H		No	ClinGen Ensembl
rs754497180 CA4974589	465	G>D		No	ClinGen ExAC TOPMed gnomAD
CA372856259 rs754497180	465	G>V		No	ClinGen ExAC TOPMed gnomAD
CA4974591 rs752265137	467	E>D		No	ClinGen ExAC TOPMed gnomAD
CA4974590 rs764586236	467	E>K		No	ClinGen ExAC gnomAD
CA372856275 rs1263582399	468	S>P		No	ClinGen gnomAD
CA188578902 rs922260224	469	Q>R		No	ClinGen TOPMed gnomAD
CA4974593 rs777721368	472	S>R		No	ClinGen ExAC TOPMed gnomAD
CA4974594 rs746778321	473	T>A		No	ClinGen ExAC gnomAD
rs1378552258 CA372856324	475	L>R		No	ClinGen TOPMed
rs1440836431 CA372856327	476	G>E		No	ClinGen TOPMed
CA4974595 rs757097465	476	G>R		No	ClinGen ExAC gnomAD
CA4974596 rs780312980	477	H>R		No	ClinGen ExAC gnomAD
CA372856339 rs778798263	478	R>L		No	ClinGen ExAC TOPMed gnomAD
rs778798263 CA4974599	478	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs201362251 CA188578935	478	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1341887214 CA372856344	479	H>L		No	ClinGen gnomAD
rs549841576 CA4974602	479	H>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4974600 rs748278413	479	H>Y		No	ClinGen ExAC gnomAD
rs568249954 CA4974603	480	W>S		No	ClinGen 1000Genomes ExAC gnomAD
rs771479300 CA4974604	482	V>A		No	ClinGen ExAC gnomAD
CA372856401 rs1349551312	485	I>M		No	ClinGen TOPMed
CA4974631 rs751069073	486	S>F		No	ClinGen ExAC TOPMed gnomAD
rs1265392504 CA372856420	488	T>I		No	ClinGen gnomAD
rs1563951370 CA372856422	489	Y>H		No	ClinGen Ensembl
rs576723207 CA4974635	491	E>D		No	ClinGen 1000Genomes ExAC gnomAD
rs750142894 CA4974634	491	E>Q		No	ClinGen ExAC gnomAD
CA4974636 rs778980010	492	S>N		No	ClinGen ExAC gnomAD
CA4974637 rs544304934	493	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA372856450 rs544304934	493	N>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs962438241 CA188583164	496	I>V		No	ClinGen TOPMed gnomAD
rs1193571125 CA372856477	497	R>Q		No	ClinGen TOPMed
CA372856476 rs1222655566	497	R>W		No	ClinGen gnomAD
rs371348385 CA4974655	498	F>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs773249137 CA4974656	501	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1341198930 CA372856840	502	D>H		No	ClinGen TOPMed
rs1426435477 CA372856877	504	L>P		No	ClinGen gnomAD
CA188583508 rs1033554094	506	Q>R		No	ClinGen TOPMed gnomAD
rs1403656838 CA372856935	511	V>A		No	ClinGen gnomAD
CA372856973 rs1164117360	514	F>S		No	ClinGen gnomAD
rs753689510 CA4974659	517	A>T		No	ClinGen ExAC gnomAD
rs368561790 CA4974660	519	Y>C		No	ClinGen ESP ExAC gnomAD
rs770624394 CA4974662	522	L>F		No	ClinGen ExAC TOPMed gnomAD
CA4974663 rs757409289	522	L>P		No	ClinGen ExAC gnomAD
rs781539842 CA4974664	523	T>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs781539842 CA372857079	523	T>N		No	ClinGen ExAC gnomAD
rs1360302653 CA372857084	524	K>E		No	ClinGen gnomAD
CA4974665 rs746457154	524	K>R		No	ClinGen ExAC gnomAD
CA372857096 rs1290186588	525	K>Q		No	ClinGen gnomAD
rs756586896 CA4974666	525	K>T		No	ClinGen ExAC TOPMed gnomAD
rs780334068 CA4974667	529	F>L		No	ClinGen ExAC gnomAD
CA188583556 rs986864267	532	I>S		No	ClinGen Ensembl
CA4974671 rs558520107	533	T>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs558520107 CA372857214	533	T>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA372857369 rs1201415623	535	E>*		No	ClinGen gnomAD
CA372857384 rs1274451428	536	Q>E		No	ClinGen TOPMed gnomAD
rs1189125130 CA372857388	536	Q>P		No	ClinGen TOPMed
rs1437878927 CA372857412	538	M>T		No	ClinGen TOPMed gnomAD
CA4974706 rs373564292	540	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	542	G>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4974707 rs777332081	542	G>R		No	ClinGen ExAC gnomAD
CA372857480 rs1447070325	545	A>T		No	ClinGen TOPMed
CA372857504 rs1285768192	546	W>C		No	ClinGen TOPMed
TCGA novel	546	W>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA372857525 rs1469438765	547	W>*		No	ClinGen gnomAD
CA372857535 rs1171068150	548	N>S		No	ClinGen TOPMed gnomAD
rs770620939 CA4974709	549	D>H		No	ClinGen ExAC TOPMed gnomAD
rs1349100115 CA372857584	551	M>I		No	ClinGen gnomAD
CA4974711 rs781268903	551	M>L		No	ClinGen ExAC TOPMed gnomAD
CA4974712 rs769863646	551	M>T		No	ClinGen ExAC gnomAD
CA4974710 rs781268903	551	M>V		No	ClinGen ExAC TOPMed gnomAD
CA372857596 rs1284274543	553	L>V		No	ClinGen TOPMed gnomAD
rs1430293809 CA372857603	554	A>T		No	ClinGen TOPMed
CA4974714 rs762692062	554	A>V		No	ClinGen ExAC gnomAD
CA4974716 rs773357860	556	Y>N		No	ClinGen ExAC gnomAD
rs1320402657 CA372857640	559	N>S		No	ClinGen TOPMed
CA4974718 rs766515128	560	D>G		No	ClinGen ExAC gnomAD
CA4974719 rs753921141	561	R>C		No	ClinGen ExAC TOPMed gnomAD
rs139677710 CA4974720	561	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA372857652 rs753921141	561	R>S		No	ClinGen ExAC TOPMed gnomAD
rs1223159820 CA372857656	562	Q>E		No	ClinGen gnomAD
rs1267867643 CA372857664	563	E>Q		No	ClinGen gnomAD
rs577094897 CA4974740	565	L>F		No	ClinGen 1000Genomes ExAC gnomAD
rs1198851382 CA372857713	568	Y>H		No	ClinGen TOPMed
CA372857727 rs1385159254	570	R>*		No	ClinGen gnomAD
CA372857728 rs1385159254	570	R>G		No	ClinGen gnomAD
CA372857729 rs1456841422	570	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA188586152 rs145279831	571	T>I		No	ClinGen ESP ExAC
rs1290938735 CA372857732	571	T>P		No	ClinGen gnomAD
CA4974741 rs145279831	571	T>R		No	ClinGen ESP ExAC
CA372857767 rs1193681401	576	N>S		No	ClinGen TOPMed
CA372857774 rs1482539329	577	A>G		No	ClinGen TOPMed
CA4974742 rs763369746	577	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA4974745 rs147647665	580	H>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs751983902 CA4974744	580	H>R		No	ClinGen ExAC TOPMed gnomAD
CA4974743 rs544522535	580	H>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs139648086 CA4974747	581	V>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs767305061 CA4974746	581	V>I		No	ClinGen ExAC gnomAD
rs755632887 CA4974748	582	T>I		No	ClinGen ExAC gnomAD
rs780030022 CA4974749	583	K>R		No	ClinGen ExAC gnomAD
rs1332563765 CA372857818	585	Q>*		No	ClinGen TOPMed
CA4974750 rs749252519	586	A>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	589	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA372857886 rs1440926502	595	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs778516132 CA4974752	595	Q>L		No	ClinGen ExAC gnomAD
CA4974754 rs771101712	596	D>E		No	ClinGen ExAC TOPMed gnomAD
rs180879540 CA4974753	596	D>N		No	ClinGen 1000Genomes ExAC
CA4974755 rs776887949	597	M>V		No	ClinGen ExAC TOPMed gnomAD
rs149979742 CA4974756	598	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1364918017 CA372857914	599	I>T		No	ClinGen gnomAD
CA188586206 rs910299696	600	V>E		No	ClinGen TOPMed gnomAD
rs769829893 CA4974757	600	V>L		No	ClinGen ExAC gnomAD
CA4974758 rs775641932	602	R>G		No	ClinGen ExAC gnomAD
rs763308771 CA372857930	602	R>K		No	ClinGen ExAC TOPMed gnomAD
rs763308771 CA4974759	602	R>T		No	ClinGen ExAC TOPMed gnomAD
rs200919699 CA4974761	603	A>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4974760 rs145216888	603	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs200919699 CA4974762	603	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA372857937 rs1376382873	604	D>N		No	ClinGen gnomAD
rs560862126 CA4974763	606	S>L		No	ClinGen 1000Genomes ExAC gnomAD
CA372857980 rs1563708972	610	Y>H		No	ClinGen Ensembl
rs184808886 CA4974765	611	S>G		No	ClinGen 1000Genomes ExAC gnomAD
CA372858000 rs1325852004	612	I>M		No	ClinGen gnomAD
CA372857998 rs1264780313	612	I>T		No	ClinGen gnomAD
CA372857995 rs1226345606	612	I>V		No	ClinGen gnomAD
CA372858009 rs1379688209	614	R>G		No	ClinGen TOPMed
rs1180449935 CA372858028	616	S>C		No	ClinGen TOPMed
rs753403564 CA4974767	617	D>G		No	ClinGen ExAC TOPMed gnomAD
rs765742639 CA4974766	617	D>H		No	ClinGen ExAC gnomAD
CA372858030 rs765742639	617	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA4974768 rs754824481	618	G>A		No	ClinGen ExAC gnomAD
CA372858039 rs754824481	618	G>D		No	ClinGen ExAC gnomAD
rs777484584 CA4974790	619	P>T		No	ClinGen ExAC gnomAD
rs537891137 CA4974791	620	N>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4974793 rs371023250	620	N>S		No	ClinGen ESP ExAC TOPMed
CA372858060 rs371023250	620	N>T		No	ClinGen ESP ExAC TOPMed
rs556148575 CA4974796	622	T>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4974798 rs556148575	622	T>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1291636976 CA372858083	624	G>A		No	ClinGen gnomAD
rs1563710161 CA372858090	625	I>T		No	ClinGen Ensembl
rs1334016427 CA372858093	626	Q>K		No	ClinGen TOPMed
rs773663835 CA4974801	628	L>F		No	ClinGen ExAC gnomAD
TCGA novel	628	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs759308309 CA188587182	633	M>V		No	ClinGen TOPMed
CA4974803 rs770460042	635	R>C		No	ClinGen ExAC TOPMed gnomAD
CA4974804 rs149164201	635	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs764658596 CA4974806	636	Y>C		No	ClinGen ExAC gnomAD
rs758964408 CA4974805	636	Y>H		No	ClinGen ExAC gnomAD
rs1235587219 CA372858176	638	P>L		No	ClinGen gnomAD
CA372858187 rs1486618142	640	P>S		No	ClinGen gnomAD
CA372858197 rs1389213859	641	F>L		No	ClinGen gnomAD
CA4974810 rs751276569	642	L>M		No	ClinGen ExAC gnomAD
rs751276569 CA372858199	642	L>V		No	ClinGen ExAC gnomAD
rs534899887 CA188587277	643	V>M		No	ClinGen TOPMed gnomAD
rs1009243515 CA188587280	644	V>A		No	ClinGen gnomAD
rs1385782523 CA372858208	644	V>I		No	ClinGen gnomAD
CA372858210 rs1385782523	644	V>L		No	ClinGen gnomAD
rs757121155 CA4974811	647	T>A		No	ClinGen ExAC gnomAD
CA372858229 rs1462571397	647	T>S		No	ClinGen TOPMed
rs1343312494 CA372858247	651	V>M		No	ClinGen gnomAD
rs1289642854 CA372858261	653	T>P		No	ClinGen gnomAD
rs1364806104 CA372858273	654	E>D		No	ClinGen gnomAD
CA372858279 rs754160012	655	N>I		No	ClinGen ExAC TOPMed gnomAD
rs754160012 CA4974813	655	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1317256628 CA372858287	656	G>A		No	ClinGen gnomAD
rs1360718282 CA372858289	657	I>V		No	ClinGen TOPMed gnomAD
CA4974815 rs374489027	658	T>I		No	ClinGen ESP ExAC
rs755257768 CA4974814	658	T>S		No	ClinGen ExAC
CA372858316 rs1319077360	661	M>T		No	ClinGen TOPMed gnomAD
rs758936114 CA4974817	661	M>V		No	ClinGen ExAC TOPMed gnomAD
CA372847095 rs1208482384	665	A>G		No	ClinGen TOPMed
CA4974846 rs372241195	666	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA4974847 rs771929691	666	R>H		No	ClinGen ExAC TOPMed gnomAD
CA372847105 rs1586709126	667	G>V		No	ClinGen Ensembl
CA372847107 rs1348982180	668	A>T		No	ClinGen gnomAD
rs62558089 CA188551932	669	E>D		No	ClinGen Ensembl
rs1049332857 CA188551930	669	E>G		No	ClinGen TOPMed
CA4974848 rs773020560	670	S>N		No	ClinGen ExAC TOPMed gnomAD
CA372847137 rs1343935341	672	M>T		No	ClinGen gnomAD
rs1329802025 CA372847146	673	L>*		No	ClinGen gnomAD
rs760589115 CA4974849	676	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA
rs1228315903 CA372847175	678	Q>E		No	ClinGen TOPMed
rs1563715708 CA372847177	678	Q>R		No	ClinGen Ensembl
rs146834937 CA4974850	680	I>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs753026704 CA4974851	682	M>L		No	ClinGen ExAC gnomAD
rs1271065420 CA372847214	683	Q>R		No	ClinGen TOPMed gnomAD
CA372847226 rs1358984256	685	D>H		No	ClinGen TOPMed
CA188551944 rs1039247373	685	D>V		No	ClinGen TOPMed
rs1586709282 CA372847239	687	S>A		No	ClinGen Ensembl
CA372847245 rs1217016541	688	G>S		No	ClinGen gnomAD
rs547159481 CA4974853	690	Q>K		No	ClinGen ExAC gnomAD
CA4974855 rs757741117	691	I>V		No	ClinGen ExAC gnomAD
rs756524031 CA4974858	692	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs145869379 CA4974857	692	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1421770410 CA372847278	693	E>G		No	ClinGen gnomAD
CA372847294 rs1482788182	695	D>V		No	ClinGen TOPMed
rs748877446 CA4974860	696	S>G		No	ClinGen ExAC gnomAD
rs768211688 CA4974861	698	P>R		No	ClinGen ExAC gnomAD
CA372847318 rs1211072348	699	N>H		No	ClinGen TOPMed
rs1407139848 CA372847332	700	N>K		No	ClinGen gnomAD
CA188551983 rs566222575	702	R>T		No	ClinGen TOPMed gnomAD
rs778440898 CA4974862	703	K>Q		No	ClinGen ExAC gnomAD
rs778471356 CA4974882	706	P>R		No	ClinGen ExAC gnomAD
CA4974883 rs747673485	707	F>L		No	ClinGen ExAC TOPMed gnomAD
CA4974884 rs771541328	708	C>S		No	ClinGen ExAC gnomAD
TCGA novel	710	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs771015148 CA4974887	717	V>I		No	ClinGen ExAC gnomAD
CA4974888 rs776525360	720	V>D		No	ClinGen ExAC gnomAD
rs191690796 CA4974890	723	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs761944083 CA4974892	724	C>F		No	ClinGen ExAC gnomAD
CA372847492 rs1328339260	724	C>R		No	ClinGen TOPMed
rs761944083 CA372847494	724	C>Y		No	ClinGen ExAC gnomAD
CA372847498 rs1384407426	725	R>G		No	ClinGen gnomAD
rs984756545 CA188552371	725	R>Q		No	ClinGen TOPMed gnomAD
rs111227958 CA188552378	728	K>R		No	ClinGen Ensembl
rs1338698364 CA372847527	729	Q>R		No	ClinGen gnomAD
rs1055214879 CA188552383	731	R>C		No	ClinGen TOPMed gnomAD
CA4974894 rs202185566	731	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1208377997 CA372847548	732	H>L		No	ClinGen TOPMed gnomAD
CA188552393 rs761125996	732	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs1208377997 CA372847547	732	H>R		No	ClinGen TOPMed gnomAD
CA372847545 rs1330030486	732	H>Y		No	ClinGen gnomAD
CA372847579 rs1455863620	737	L>P		No	ClinGen TOPMed
rs1247126265 CA372847577	737	L>V		No	ClinGen gnomAD
rs752360694 CA4974900	740	S>G		No	ClinGen ExAC gnomAD
rs1472038768 CA372847601	740	S>R		No	ClinGen TOPMed gnomAD
CA188552416 rs897181972	743	G>C		No	ClinGen TOPMed
CA372847624 rs1407909232	744	A>G		No	ClinGen gnomAD
CA4974901 rs758082280	744	A>T		No	ClinGen ExAC gnomAD
rs1407909232 CA372847625	744	A>V		No	ClinGen gnomAD
rs1354184359 CA372847639	746	M>I		No	ClinGen TOPMed gnomAD
rs1301759689 CA372847652	748	V>A		No	ClinGen gnomAD
CA372847649 rs1466100208	748	V>I		No	ClinGen gnomAD
CA372847669 rs1563716646	750	L>R		No	ClinGen Ensembl
rs746548657 CA4974903	752	L>F		No	ClinGen ExAC gnomAD
CA372847694 rs1268276674	754	P>R		No	ClinGen TOPMed
CA372847704 rs1226395359	756	D>N		No	ClinGen gnomAD
rs1286665062 CA372847720	758	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA4974905 rs781323863	758	R>H		No	ClinGen ExAC gnomAD
rs781323863 CA372847722	758	R>L		No	ClinGen ExAC gnomAD
CA4974906 rs148160715	759	K>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA4974907 rs769542313	759	K>R		No	ClinGen ExAC TOPMed gnomAD
rs541756950 CA372847729	760	P>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs541756950 CA4974908	760	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs748263191 CA4974909	762	S>C		No	ClinGen ExAC gnomAD
rs772305760 CA4974910	767	R>Q		No	ClinGen ExAC gnomAD
CA372847806 rs1341256560	771	P>L		No	ClinGen TOPMed
TCGA novel	772	F>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs760788414 CA372847816	773	H>D		No	ClinGen ExAC TOPMed gnomAD
rs760788414 CA372847815	773	H>N		No	ClinGen ExAC TOPMed gnomAD
rs760788414 CA4974912	773	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs1433423641 CA372847834	775	N>S		No	ClinGen gnomAD
rs766850507 CA372847851	777	Y>*		No	ClinGen ExAC TOPMed gnomAD
rs747728562 CA188552501	778	P>T		No	ClinGen Ensembl
CA4974916 rs765454260	780	A>T		No	ClinGen ExAC gnomAD
CA4974917 rs753125878	781	V>F		No	ClinGen ExAC TOPMed gnomAD
CA372847867 rs753125878	781	V>I		No	ClinGen ExAC TOPMed gnomAD
CA372847868 rs753125878	781	V>L		No	ClinGen ExAC TOPMed gnomAD
CA188552525 rs1001186704	782	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1448570011 CA372847938	792	V>L		No	ClinGen TOPMed
CA4974921 rs756881961	793	N>S		No	ClinGen ExAC gnomAD
TCGA novel	794	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs895761591 CA188552569	796	L>S		No	ClinGen TOPMed gnomAD
rs756088010 CA4974924	798	Y>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1358139015 CA372848008	802	Y>C		No	ClinGen TOPMed
rs1488579378 CA372848017	803	T>I		No	ClinGen TOPMed gnomAD
rs1488579378 CA372848016	803	T>S		No	ClinGen TOPMed gnomAD
CA372848018 rs749141847	804	R>G		No	ClinGen ExAC gnomAD
CA4974927 rs772254596	804	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA4974926 rs749141847	804	R>W		No	ClinGen ExAC gnomAD
rs1341796119 CA372848041	807	A>G		No	ClinGen TOPMed
rs1450776328 CA372848043	808	R>G		No	ClinGen gnomAD
rs1168748171 CA372848045	808	R>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA4974928 rs778021299	808	R>S		No	ClinGen ExAC gnomAD
rs771066604 CA4974930	812	E>Q		No	ClinGen ExAC gnomAD
CA372848077 rs1350288623	813	V>M		No	ClinGen gnomAD
rs776778707 CA4974931	814	L>F		No	ClinGen ExAC gnomAD
rs1293136712 CA372848089	815	F>L		No	ClinGen gnomAD
rs1365830436 CA372848091	815	F>Y		No	ClinGen gnomAD
CA372848102 rs1365041881	817	F>I		No	ClinGen gnomAD
rs1297929811 CA372848115	818	C>F		No	ClinGen TOPMed gnomAD
rs1297929811 CA372848113	818	C>Y		No	ClinGen TOPMed gnomAD
CA188552603 rs1006327557	823	T>N		No	ClinGen TOPMed
rs913539701 CA188552608	825	Q>E		No	ClinGen Ensembl
CA372848173 rs1586711474	827	Y>S		No	ClinGen Ensembl
CA372848186 rs1292687415	829	H>Y		No	ClinGen gnomAD
rs751319728 CA4974937	833	R>C		No	ClinGen ExAC TOPMed gnomAD
CA4974938 rs761558922	833	R>H		No	ClinGen ExAC gnomAD
rs749974767 CA4974940	835	L>F		No	ClinGen ExAC gnomAD
CA372848224 rs749974767	835	L>I		No	ClinGen ExAC gnomAD
CA372848229 rs1183495484	836	L>M		No	ClinGen gnomAD
rs755968626 CA4974941	837	V>L		No	ClinGen ExAC gnomAD
CA188552699 rs112022450	845	L>S		No	ClinGen Ensembl
TCGA novel	846	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA372848295 rs1245207440	846	L>V		No	ClinGen TOPMed gnomAD
CA372848931 rs1169108571	848	A>G		No	ClinGen TOPMed
CA188552700 rs182827871	848	A>T		No	ClinGen 1000Genomes
rs1321255906 CA372848936	849	Q>E		No	ClinGen gnomAD
CA4974947 rs771156904	851	C>G		No	ClinGen ExAC gnomAD
rs1309866492 CA372848982	853	T>K		No	ClinGen TOPMed gnomAD
CA188552726 rs1055732190	855	P>R		No	ClinGen Ensembl
CA372849001 rs1311050216	855	P>S		No	ClinGen gnomAD
rs1209003526 CA372849051	860	V>M		No	ClinGen gnomAD
TCGA novel	865	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA372849176 rs1490840545	871	E>K		No	ClinGen TOPMed
rs368657687 CA4974952	872	E>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4974955 rs761505527	876	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA4974953 rs769071095	876	R>W		No	ClinGen ExAC TOPMed gnomAD
CA4974956 rs767233773	877	E>G		No	ClinGen ExAC gnomAD
CA188552780 rs1037091950	879	I>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA372849314 rs1399016392	884	L>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA4974958 rs760286118	885	P>L		No	ClinGen ExAC gnomAD
TCGA novel	886	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4974959 rs201307416	888	A>V		No	ClinGen 1000Genomes ExAC gnomAD
rs753839766 CA4974960	889	K>E		No	ClinGen ExAC TOPMed gnomAD
rs933988774 CA188552799	890	F>V		No	ClinGen Ensembl
CA372849428 rs777346470	894	F>I		No	ClinGen Ensembl
rs777346470 CA188552807	894	F>L		No	ClinGen Ensembl
CA372849439 rs1352684122	894	F>L		No	ClinGen gnomAD
CA372849460 rs1287309823	896	L>R		No	ClinGen gnomAD
CA188552827 rs913391344	896	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA4974962 rs764956673	898	L>V		No	ClinGen ExAC TOPMed gnomAD
CA372849482 rs1427654632	899	Q>K		No	ClinGen Ensembl
rs1409641923 CA372849503	900	T>R		No	ClinGen TOPMed
CA4974964 rs757388304	901	V>I		No	ClinGen ExAC gnomAD
CA372849544 rs1382736383	904	C>Y		No	ClinGen gnomAD
CA4974966 rs745921175	906	R>M		No	ClinGen ExAC gnomAD
rs575082252 CA188552910	908	T>S		No	ClinGen Ensembl
rs1411422828 CA372849599	909	E>K		No	ClinGen gnomAD
CA372849617 rs1158435977	910	Y>F		No	ClinGen gnomAD
CA188552924 rs865963469	910	Y>H		No	ClinGen Ensembl
rs749751609 CA4974969	912	L>R		No	ClinGen ExAC gnomAD
rs1172719146 CA372849675	916	L>I		No	ClinGen TOPMed
CA372849688 rs1563717628	917	F>L		No	ClinGen Ensembl
CA4974970 rs371720162	920	V>I		No	ClinGen ESP ExAC gnomAD
CA372849706 rs1481366354	921	G>R		No	ClinGen TOPMed
CA4974971 rs774818858	925	D>H		No	ClinGen ExAC gnomAD
rs748566002 CA4974972	927	F>S		No	ClinGen ExAC gnomAD
rs1586712183 CA372849748	927	F>V		No	ClinGen Ensembl
rs1410824512 CA372849756	928	E>Q		No	ClinGen gnomAD
CA4974975 rs148688426	929	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs148688426 CA4974974	929	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA372849772 rs1438209053	930	C>Y		No	ClinGen gnomAD
rs1275111772 CA372849790	932	M>I		No	ClinGen gnomAD
TCGA novel	935	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs142245373 CA372849817	936	L>*		No	ClinGen ESP TOPMed gnomAD
CA372849819 rs1217022833	936	L>F		No	ClinGen gnomAD
CA188552952 rs142245373	936	L>W		No	ClinGen ESP TOPMed gnomAD
CA188552956 rs368054643	937	D>N		No	ClinGen ESP
CA188552959 rs371475942	938	T>I		No	ClinGen ESP TOPMed gnomAD
rs1249381561 CA372849837	939	A>G		No	ClinGen gnomAD
CA372849835 rs1204103308	939	A>P		No	ClinGen gnomAD
CA372849855 rs1204441590	942	Y>C		No	ClinGen TOPMed
CA4974977 rs776133909	944	I>T		No	ClinGen ExAC TOPMed gnomAD
CA188552976 rs756608738	947	Q>E		No	ClinGen Ensembl
CA372849915 rs1326478299	949	M>L		No	ClinGen TOPMed
CA4975001 rs762800394	949	M>T		No	ClinGen ExAC gnomAD
TCGA novel	951	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA188554172 rs763887936	951	V>I		No	ClinGen ExAC TOPMed gnomAD
CA4975002 rs763887936	951	V>L		No	ClinGen ExAC TOPMed gnomAD
CA188554198 rs919708710	952	P>L		No	ClinGen TOPMed gnomAD
rs760908824 CA4975004	952	P>S		No	ClinGen ExAC TOPMed gnomAD
rs368365784 CA188554199	953	A>T		No	ClinGen TOPMed
rs753947992 CA4975006	954	V>I		No	ClinGen ExAC TOPMed gnomAD
rs753947992 CA372849942	954	V>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	955	S>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4975007 rs755169854	955	S>T		No	ClinGen ExAC gnomAD
CA372849973 rs1437247448	958	H>R		No	ClinGen TOPMed
rs1046748100 CA188554213	959	A>P		No	ClinGen Ensembl
rs753181064 CA4975009	960	T>A		No	ClinGen ExAC gnomAD
rs1188616432 CA372849985	960	T>S		No	ClinGen gnomAD
rs1471122411 CA372849994	962	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs979273592 CA188554221	963	F>L		No	ClinGen TOPMed gnomAD
rs747367497 CA188554249	964	N>D		No	ClinGen ExAC TOPMed gnomAD
rs747367497 CA4975012	964	N>H		No	ClinGen ExAC TOPMed gnomAD
CA188554252 rs936094268	964	N>S		No	ClinGen TOPMed gnomAD
rs770547491 CA4975013	965	T>A		No	ClinGen ExAC TOPMed gnomAD
rs745377268 CA4975015	966	A>S		No	ClinGen ExAC gnomAD
rs745377268 CA372850015	966	A>T		No	ClinGen ExAC gnomAD
CA4975017 rs774871452	968	E>Q		No	ClinGen ExAC gnomAD
rs1237876600 CA372850033	969	Q>E		No	ClinGen TOPMed
CA372850040 rs1335828178	970	G>S		No	ClinGen TOPMed
CA4975019 rs768505543	971	K>T		No	ClinGen ExAC gnomAD
rs1450328839 CA372850062	973	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1330089104 CA372850071	974	L>V		No	ClinGen gnomAD
rs774162370 CA4975020	975	C>G		No	ClinGen ExAC TOPMed gnomAD
CA4975021 rs761564303	975	C>S		No	ClinGen ExAC gnomAD
CA4975022 rs143659237	976	R>Q	Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs759847194 CA4975024	978	M>V		No	ClinGen ExAC gnomAD
CA372850105 rs1157042455	979	I>N		No	ClinGen TOPMed
CA4975025 rs765350029	980	R>Q		No	ClinGen ExAC gnomAD
CA372850123 rs1563719854	982	L>F		No	ClinGen Ensembl
rs1184876499 CA372850126	982	L>R		No	ClinGen gnomAD
rs1469874153 CA372850140	984	A>V		No	ClinGen TOPMed
rs778185190 CA4975028	985	I>T		No	ClinGen ExAC gnomAD
rs758899463 CA4975027	985	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1378893797 CA372850151	986	G>V		No	ClinGen gnomAD
rs1466145760 CA372850154	987	S>A		No	ClinGen gnomAD
CA4975029 rs146822996	988	G>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA4975030 rs757684414	990	S>Y		No	ClinGen ExAC gnomAD
TCGA novel	991	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA188554316 rs112385972	991	E>G		No	ClinGen Ensembl
rs781541380 CA4975031	992	T>I		No	ClinGen ExAC gnomAD
CA372850198 rs1391067966	994	P>L		No	ClinGen gnomAD
rs779573526 CA372850195	994	P>S		No	ClinGen ExAC TOPMed gnomAD
CA4975034 rs779573526	994	P>T		No	ClinGen ExAC TOPMed gnomAD
rs202090364 CA4975037	995	S>C		No	ClinGen ExAC gnomAD
CA4975036 rs768618311	995	S>P		No	ClinGen ExAC gnomAD
CA372850204 rs1346353617	996	T>A		No	ClinGen gnomAD
CA372850218 rs1207669281	998	T>K		No	ClinGen gnomAD
rs1464033981 CA372850222	999	A>P		No	ClinGen TOPMed gnomAD
rs1464033981 CA372850221	999	A>T		No	ClinGen TOPMed gnomAD
CA4975039 rs771930896	999	A>V		No	ClinGen ExAC gnomAD
rs1480085159 CA372850231	1000	Q>R		No	ClinGen gnomAD
rs1358102515 CA372850657	1003	S>T		No	ClinGen TOPMed
TCGA novel	1012	R>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4975058 rs746842720	1013	N>K		No	ClinGen ExAC gnomAD
rs1166657348 CA372850791	1015	S>C		No	ClinGen gnomAD
rs770037642 CA4975059	1015	S>T		No	ClinGen ExAC TOPMed gnomAD
rs1359834558 CA372850802	1016	I>F		No	ClinGen TOPMed
rs763239909 CA4975061	1017	S>I		No	ClinGen ExAC gnomAD
CA372850840 rs1361870211	1019	S>F		No	ClinGen gnomAD
CA4975062 rs764021803	1019	S>P		No	ClinGen ExAC gnomAD
CA372850859 rs1269558433	1021	S>P		No	ClinGen TOPMed
rs774433120 CA4975063	1023	E>K		No	ClinGen ExAC gnomAD
rs762264704 CA4975064	1024	N>I		No	ClinGen ExAC
CA4975065 rs768048943	1025	V>F		No	ClinGen ExAC gnomAD
CA4975066 rs768048943	1025	V>L		No	ClinGen ExAC gnomAD
CA188554480 rs766846635	1028	S>T		No	ClinGen Ensembl
CA188554485 rs991600233	1030	F>L		No	ClinGen TOPMed
CA372850964 rs1300197462	1031	S>G		No	ClinGen TOPMed
rs766053830 CA4975069	1031	S>T		No	ClinGen ExAC gnomAD
CA4975070 rs753368466	1033	Q>*		No	ClinGen ExAC
rs754676600 CA4975071	1038	M>V		No	ClinGen ExAC gnomAD
rs1241381297 CA372851074	1039	P>Q		No	ClinGen TOPMed gnomAD
rs1208883063 CA372851071	1039	P>S		No	ClinGen gnomAD
TCGA novel	1040	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1040	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA372851105 rs747692758	1041	G>R		No	ClinGen ExAC gnomAD
CA4975073 rs747692758	1041	G>S		No	ClinGen ExAC gnomAD
rs758380231 CA4975074	1042	P>A		No	ClinGen ExAC gnomAD
CA4975075 rs758380231	1042	P>T		No	ClinGen ExAC gnomAD
CA372851143 rs1266573113	1044	G>R		No	ClinGen gnomAD
TCGA novel	1046	R>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs757237549 CA4975095	1047	W>*		No	ClinGen ExAC gnomAD
rs1410092122 CA372851882	1049	K>E		No	ClinGen gnomAD
rs780809282 CA4975096	1049	K>T		No	ClinGen ExAC gnomAD
CA4975097 rs745914756	1050	D>N		No	ClinGen ExAC gnomAD
CA188556966 rs993367063	1053	C>Y		No	ClinGen gnomAD
TCGA novel	1054	A>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs779162270 CA4975099	1054	A>P		No	ClinGen ExAC gnomAD
CA4975102 rs773294785	1055	E>K		No	ClinGen ExAC gnomAD
rs1279740452 CA372851937	1056	N>K		No	ClinGen TOPMed
CA4975104 rs550545498	1057	M>T		No	ClinGen 1000Genomes ExAC gnomAD
CA4975103 rs761038946	1057	M>V		No	ClinGen ExAC TOPMed
rs1370654973 CA372851957	1059	I>T		No	ClinGen TOPMed
rs1351845825 CA372851972	1061	M>T		No	ClinGen TOPMed
rs1409886888 CA372851969	1061	M>V		No	ClinGen TOPMed
CA372851988 rs1182771224	1063	L>F		No	ClinGen gnomAD
CA372851995 rs1232580628	1064	W>*		No	ClinGen gnomAD
CA188557032 rs1051499161	1064	W>C		No	ClinGen Ensembl
rs776833202 CA4975105	1065	R>T		No	ClinGen ExAC gnomAD
CA372852012 rs1192999581	1066	H>Q		No	ClinGen gnomAD
CA4975106 rs759997980	1067	A>V		No	ClinGen ExAC gnomAD
rs61744825 CA4975108	1068	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1172120855 CA372852020	1068	R>Q		No	ClinGen TOPMed gnomAD
rs61744825 CA4975107	1068	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4975109 rs762704958	1069	R>C		No	ClinGen ExAC TOPMed gnomAD
rs376971218 CA4975110	1069	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA372852033 rs61744828	1071	L>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA372852046 rs1437913491	1072	E>D		No	ClinGen gnomAD
CA188557086 rs370053489	1074	V>A		No	ClinGen 1000Genomes ESP ExAC gnomAD
CA4975112 rs370053489	1074	V>G		No	ClinGen 1000Genomes ESP ExAC gnomAD
CA4975113 rs781239119	1077	K>R		No	ClinGen ExAC gnomAD
CA372852086 rs756001257	1078	D>E		No	ClinGen ExAC gnomAD
CA4975116 rs779830582	1079	L>P		No	ClinGen ExAC gnomAD
CA372852089 rs1195077157	1079	L>V		No	ClinGen gnomAD
CA372852102 rs1563724352	1081	C>Y		No	ClinGen Ensembl
CA372852126 rs1223799521	1084	A>G		No	ClinGen TOPMed gnomAD
rs1254124571 CA372852121	1084	A>T		No	ClinGen TOPMed
CA372852125 rs1223799521	1084	A>V		No	ClinGen TOPMed gnomAD
CA372852133 CA4975119 rs772303720	1085	Q>H		No	ClinGen ExAC gnomAD
rs1165521707 CA372852139	1087	G>S		No	ClinGen TOPMed gnomAD
CA372852152 rs373489201	1088	F>L		No	ClinGen ExAC TOPMed gnomAD
CA4975122 rs777255722	1092	S>N		No	ClinGen ExAC gnomAD
CA4975123 rs558509182	1093	W>*		No	ClinGen 1000Genomes ExAC gnomAD
rs770223984 CA4975124	1093	W>C		No	ClinGen ExAC gnomAD
rs773711235 CA4975128	1095	C>R		No	ClinGen ExAC gnomAD
rs1563724476 CA372852205	1096	K>N		No	ClinGen Ensembl
rs1228667725 CA372852203	1096	K>R		No	ClinGen TOPMed
rs570380714 CA4975129	1098	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1290850841 CA372852217	1098	R>H		No	ClinGen TOPMed
rs570380714 CA372852215	1098	R>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs967266969 CA372852221	1099	T>P		No	ClinGen Ensembl
rs967266969 CA188557174	1099	T>S		No	ClinGen Ensembl
CA4975131 rs538140547	1100	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs766113982 CA4975133	1101	A>P		No	ClinGen ExAC TOPMed gnomAD
CA188557265 rs982268642	1102	A>S		No	ClinGen TOPMed gnomAD
rs982268642 CA372852234	1102	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1274099342 CA372852238	1102	A>V		No	ClinGen gnomAD
CA372852242 rs143393991	1103	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs143393991 CA4975136	1103	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA372852245 rs1457932906	1104	V>L		No	ClinGen TOPMed
rs1192869349 CA372852285	1109	I>M		No	ClinGen gnomAD
CA188557304 rs59270301	1110	A>T		No	ClinGen Ensembl
rs1423325365 CA372852308	1113	R>K		No	ClinGen TOPMed
CA4975138 rs757427636	1116	K>E		No	ClinGen ExAC gnomAD
rs1165178428 CA372852328	1116	K>R		No	ClinGen TOPMed gnomAD
CA372852359 rs1459352598	1120	W>*		No	ClinGen gnomAD
rs770451184 CA4975141	1124	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1381612947 CA372852390	1125	I>T		No	ClinGen gnomAD
rs148185224 CA188557338	1126	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs148185224 CA4975142	1126	P>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA4975144 rs768409237	1127	A>G		No	ClinGen ExAC gnomAD
rs141152178 CA372852397	1127	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA4975143 rs141152178	1127	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA188557348 rs959421857	1128	S>P		No	ClinGen TOPMed gnomAD
CA372852405 rs1563724709	1128	S>Y		No	ClinGen Ensembl
CA4975145 rs774119391	1129	S>C		No	ClinGen ExAC gnomAD
CA372852413 rs1314747217	1130	I>V		No	ClinGen TOPMed
rs1231473884 CA372852433	1133	P>A		No	ClinGen gnomAD
CA372852437 rs1219996019	1133	P>L		No	ClinGen gnomAD
CA372852445 rs1364414147	1134	F>L		No	ClinGen TOPMed
rs766996809 CA4975147	1135	K>N		No	ClinGen ExAC TOPMed gnomAD
CA4975148 rs772621787	1136	N>H		No	ClinGen ExAC gnomAD
rs267602255 CA188557375	1137	G>R		No	ClinGen gnomAD
rs753613396 CA4975151	1140	R>*		No	ClinGen ExAC gnomAD
CA4975152 rs201895838	1140	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA4975153 rs764220652	1141	T>I		No	ClinGen ExAC gnomAD
rs1586730804 CA372852678	1144	E>D		No	ClinGen Ensembl
rs200822292 CA4975207	1144	E>G		No	ClinGen ExAC TOPMed gnomAD
rs200822292 CA188558017	1144	E>V		No	ClinGen ExAC TOPMed gnomAD
rs1586730811 CA372852681	1145	Q>K		No	ClinGen Ensembl
rs1345116650 CA372852684	1145	Q>R		No	ClinGen gnomAD
CA372852689 rs746609104	1146	L>V		No	ClinGen ExAC gnomAD
rs1335445785 CA372852709	1149	S>P		No	ClinGen gnomAD
CA4975210 rs201165896	1152	A>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA372852729 rs201165896	1152	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs987404847 CA188558033	1152	A>V		No	ClinGen TOPMed
rs1382954379 CA372852732	1153	D>N		No	ClinGen TOPMed
CA372852743 rs1350402245	1154	P>R		No	ClinGen gnomAD
CA188558034 rs911879650	1154	P>T		No	ClinGen TOPMed gnomAD
rs748488434 CA188558040	1157	N>K		No	ClinGen Ensembl
CA372852764 rs1457525254	1157	N>S		No	ClinGen TOPMed
CA4975213 rs368444036	1158	L>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA4975214 rs368444036	1158	L>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA4975215 rs768511045	1159	E>A		No	ClinGen ExAC gnomAD
CA372852776 rs1187473901	1159	E>D		No	ClinGen gnomAD
CA372852771 rs1280825692	1159	E>K		No	ClinGen gnomAD
CA4975216 rs774309407	1160	M>T		No	ClinGen ExAC gnomAD
CA372852804 rs1586730993	1163	G>A		No	ClinGen Ensembl
CA4975218 rs760940887	1164	I>M		No	ClinGen ExAC TOPMed gnomAD
CA372852809 rs1471161242	1164	I>T		No	ClinGen gnomAD
CA372852813 rs1429865608	1165	S>P		No	ClinGen TOPMed
CA4975219 rs776829636	1166	N>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs936151177 CA188558057	1167	I>V		No	ClinGen TOPMed
CA4975220 rs374256125	1168	Q>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs765772977 CA4975221	1168	Q>L		No	ClinGen ExAC gnomAD
rs1434551948 CA372852837	1169	R>G		No	ClinGen gnomAD
rs1018305480 CA188558065	1169	R>Q		No	ClinGen TOPMed gnomAD
rs1355925399 CA372852855	1171	Q>H		No	ClinGen gnomAD
CA4975222 rs146938833	1172	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA4975223 rs758959870	1174	L>I		No	ClinGen ExAC TOPMed gnomAD
CA188558073 rs894205292	1174	L>P		No	ClinGen TOPMed gnomAD
CA372852876 rs894205292	1174	L>R		No	ClinGen TOPMed gnomAD
rs1236372079 CA372852877	1175	S>G		No	ClinGen gnomAD
rs373591285 CA4975226	1177	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1337797063 CA372852896	1177	I>T		No	ClinGen Ensembl
CA4975225 rs751958368	1177	I>V		No	ClinGen ExAC gnomAD
rs975073169 CA188558094	1178	G>D		No	ClinGen gnomAD
rs551954937 CA188558105	1179	P>S		No	ClinGen 1000Genomes gnomAD
rs1275029552 CA372852910	1180	T>A		No	ClinGen TOPMed
CA4975229 rs559969866	1182	H>D		No	ClinGen ExAC TOPMed gnomAD
CA4975230 rs779628840	1182	H>R		No	ClinGen ExAC TOPMed gnomAD
CA188558122 rs559969866	1182	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA372852951 rs1586731188	1184	I>T		No	ClinGen Ensembl
CA188558126 rs968327417	1184	I>V		No	ClinGen gnomAD
rs749128821 CA4975231	1185	D>H		No	ClinGen ExAC TOPMed gnomAD
CA372852954 rs749128821	1185	D>N		No	ClinGen ExAC TOPMed gnomAD
CA372852981 rs1410216981	1186	T>I		No	ClinGen gnomAD
rs1327820165 CA372852983	1187	A>T		No	ClinGen gnomAD
rs1442552602 CA372853019	1189	S>F		No	ClinGen gnomAD
CA372853059 rs1370169653	1192	P>S		No	ClinGen TOPMed gnomAD
CA188558142 rs532284187	1193	Q>L		No	ClinGen Ensembl
CA372853105 rs1230724709	1195	Q>*		No	ClinGen TOPMed gnomAD
rs1230724709 CA372853104	1195	Q>E		No	ClinGen TOPMed gnomAD
rs771266482 CA4975235	1196	D>A		No	ClinGen ExAC gnomAD
rs776788190 CA4975236	1197	A>G		No	ClinGen ExAC TOPMed gnomAD
CA372853138 rs1339876785	1197	A>T		No	ClinGen gnomAD
rs143568220 CA4975240	1198	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA372853155 rs1480464459	1198	F>S		No	ClinGen TOPMed
CA4975239 rs143568220	1198	F>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA372853202 rs1468447329	1202	L>V		No	ClinGen gnomAD
CA4975244 rs767871235	1204	N>D		No	ClinGen ExAC TOPMed gnomAD
rs147192288 CA4975245	1204	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA372853492 rs1338660260	1208	E>K		No	ClinGen gnomAD
rs778574444 CA4975268	1209	C>G		No	ClinGen ExAC gnomAD
rs1294191571 CA372853524	1212	G>C		No	ClinGen TOPMed gnomAD
rs1365778790 CA372853539	1214	A>V		No	ClinGen TOPMed gnomAD
CA4975269 rs752627971	1215	T>R		No	ClinGen ExAC gnomAD
CA4975270 rs758435306	1217	L>F		No	ClinGen ExAC TOPMed gnomAD
CA4975271 rs777394864	1221	S>G		No	ClinGen ExAC TOPMed gnomAD
rs746867743 CA4975272	1221	S>T		No	ClinGen ExAC gnomAD
rs769891241 CA4975273	1223	M>I		No	ClinGen ExAC TOPMed gnomAD
CA188559830 rs772020351	1223	M>L		No	ClinGen TOPMed gnomAD
CA372853613 rs1256450224	1225	D>E		No	ClinGen TOPMed gnomAD
rs371661349 CA4975275	1228	W>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1378484505 CA372853647	1230	M>I		No	ClinGen TOPMed
CA372853645 rs1226845919	1230	M>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA4975276 rs768664489	1230	M>V		No	ClinGen ExAC TOPMed gnomAD
rs772673823 CA4975279	1234	N>Y		No	ClinGen ExAC gnomAD
CA372853680 rs1270805529	1235	F>V		No	ClinGen gnomAD
rs369320747 CA4975284	1239	S>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA372853722 rs1563728634	1241	T>I		No	ClinGen Ensembl
CA4975285 rs764793821	1241	T>P		No	ClinGen ExAC gnomAD
rs1297964812 CA372853733	1243	S>P		No	ClinGen TOPMed
CA372853749 rs1420732617	1245	L>P		No	ClinGen TOPMed
rs373285488 CA4975288	1246	E>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA4975287 rs752290639	1246	E>Q		No	ClinGen ExAC gnomAD
CA4975290 rs751303108	1248	I>V		No	ClinGen ExAC gnomAD
rs757008097 CA4975291	1249	S>T		No	ClinGen ExAC gnomAD
CA4975292 rs780859983	1249	S>Y		No	ClinGen ExAC gnomAD
CA4975295 rs773058842	1250	M>I		No	ClinGen ExAC TOPMed gnomAD
CA4975294 rs755221909	1250	M>V		No	ClinGen ExAC gnomAD
rs760478398 CA188559934	1252	L>M		No	ClinGen Ensembl
CA372853799 rs866527422	1253	A>D		No	ClinGen gnomAD
CA372853796 rs1176689763	1253	A>T		No	ClinGen gnomAD
rs866527422 CA188559939	1253	A>V		No	ClinGen gnomAD
rs375174219 CA4975296	1254	S>G		No	ClinGen ESP ExAC gnomAD
CA372853803 rs1479275061	1254	S>N		No	ClinGen gnomAD
CA4975297 rs772444753	1255	K>I		No	ClinGen ExAC TOPMed gnomAD
CA4975298 rs773838410	1256	G>E		No	ClinGen ExAC gnomAD
rs1198232901 CA372853824	1257	P>R		No	ClinGen TOPMed gnomAD
CA4975301 rs777161001	1258	H>P	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA372853829 rs777161001	1258	H>R		No	ClinGen ExAC gnomAD
CA4975300 rs144625429	1258	H>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA4975302 rs759229306	1260	S>F		No	ClinGen ExAC TOPMed gnomAD
CA372853845 rs1310855388	1261	Q>K		No	ClinGen gnomAD
CA372853849 rs1229134252	1261	Q>R		No	ClinGen gnomAD
CA372853857 rs1196217054	1262	V>D		No	ClinGen gnomAD
rs762587217 CA4975305	1262	V>I		No	ClinGen ExAC gnomAD
CA188559991 rs766299016	1263	Q>E		No	ClinGen gnomAD
CA4975306 rs763515150	1265	R>Q		No	ClinGen ExAC gnomAD
rs1468882138 CA372853872	1265	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
TCGA novel	1266	Y>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4975328 rs750204830	1269	H>R		No	ClinGen ExAC gnomAD
rs143563024 CA188560123	1270	I>T		No	ClinGen ESP
rs760531140 CA372853928 CA188560131	1272	M>L		No	ClinGen ExAC TOPMed gnomAD
rs760531140 CA4975329	1272	M>V		No	ClinGen ExAC TOPMed gnomAD
rs1348711718 CA372853935	1273	E>*		No	ClinGen gnomAD
rs1455656284 CA372853953	1275	G>E		No	ClinGen gnomAD
CA4975330 rs766167027	1276	C>G		No	ClinGen ExAC gnomAD
rs752907181 CA4975331	1276	C>Y		No	ClinGen ExAC gnomAD
rs915532725 CA188560140	1277	L>P		No	ClinGen TOPMed
rs1227310520 CA372853979	1279	W>*		No	ClinGen gnomAD
CA4975334 rs751634693	1280	C>Y		No	ClinGen ExAC gnomAD
rs757819865 CA4975335	1281	I>V		No	ClinGen ExAC gnomAD
rs565348578 CA372853996	1282	V>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs565348578 CA4975337	1282	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA372854002 rs1487198019	1283	I>L		No	ClinGen gnomAD
CA4975338 rs770223963	1286	I>M		No	ClinGen ExAC TOPMed gnomAD
CA4975339 rs780585539	1287	L>F		No	ClinGen ExAC gnomAD
CA4975340 rs780585539	1287	L>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1237580694 CA372854028	1288	R>G		No	ClinGen TOPMed
rs1199413836 CA372854035	1289	E>K		No	ClinGen TOPMed
rs1181412339 CA372854048	1290	S>F		No	ClinGen TOPMed gnomAD
rs1181412339 CA372854046	1290	S>Y		No	ClinGen TOPMed gnomAD
rs752810723 CA188560209	1291	S>L		No	ClinGen TOPMed gnomAD
rs761286418 CA4975343	1292	I>M		No	ClinGen ExAC gnomAD
CA4975342 rs773889558	1292	I>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA188560228 rs371242949	1293	I>M		No	ClinGen ESP TOPMed gnomAD
CA188560220 rs1004976399	1293	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs532516779 CA4975344	1293	I>V		No	ClinGen 1000Genomes ExAC gnomAD
CA4975345 rs139608846	1294	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA4975346 rs374147809	1295	Q>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
rs368661304 CA4975347	1296	I>S		No	ClinGen ESP ExAC gnomAD
rs753610098 CA4975348	1298	V>F		No	ClinGen ExAC gnomAD
CA4975349 rs763206595	1300	T>A		No	ClinGen ExAC gnomAD
CA372854105 rs1237438259	1300	T>I		No	ClinGen TOPMed
TCGA novel	1300	T>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4975350 rs764275887	1302	S>C		No	ClinGen ExAC gnomAD
CA4975351 rs764275887	1302	S>F		No	ClinGen ExAC gnomAD
rs1236301202 CA372854124	1303	S>L		No	ClinGen gnomAD
rs1375768859 CA372854131	1304	E>D		No	ClinGen TOPMed
rs1282719794 CA372854143	1306	D>G		No	ClinGen TOPMed gnomAD
CA372854144 rs1282719794	1306	D>V		No	ClinGen TOPMed gnomAD
CA4975352 rs757336642	1307	G>E		No	ClinGen ExAC gnomAD
CA372854148 CA188560250 rs372678736	1307	G>R		No	ClinGen ESP TOPMed gnomAD
CA4975353 rs781431750	1308	E>K		No	ClinGen ExAC gnomAD
CA372854166 CA372854164 rs1221383883	1309	M>I		No	ClinGen TOPMed gnomAD
rs1489793017 CA372854161	1309	M>T		No	ClinGen gnomAD
rs966072008 CA188560263	1311	Q>R		No	ClinGen Ensembl
rs750908534 CA4975354	1312	N>S		No	ClinGen ExAC TOPMed gnomAD
CA4975355 rs144343208	1313	I>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA372854189 rs1179740613	1313	I>V		No	ClinGen gnomAD
CA4975356 rs1554615954	1315	T>R		No	ClinGen Ensembl
rs1173546442 CA372854224	1318	H>Q		No	ClinGen gnomAD
rs780433663 CA4975358	1318	H>R		No	ClinGen ExAC TOPMed gnomAD
CA4975359 rs200738061	1319	A>T		No	ClinGen ExAC TOPMed gnomAD
CA4975360 rs768342014	1319	A>V		No	ClinGen ExAC gnomAD
CA4975361 rs778495890	1321	D>A		No	ClinGen ExAC gnomAD
CA4975362 rs747842408	1322	R>*		No	ClinGen ExAC gnomAD
CA372854244 rs374947323	1322	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA4975363 rs374947323	1322	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1344067945 CA372854258	1324	A>S		No	ClinGen gnomAD
rs1473453001 CA372854259	1324	A>V		No	ClinGen gnomAD
TCGA novel	1325	S>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA372854269 rs1276781969	1326	T>A		No	ClinGen gnomAD
rs568941181 CA188560354	1326	T>I		No	ClinGen 1000Genomes ExAC gnomAD
CA4975365 rs568941181	1326	T>R		No	ClinGen 1000Genomes ExAC gnomAD
rs1383869932 CA4975367	1327	D>E		No	ClinGen gnomAD
rs1563729552 CA372854274	1327	D>Y		No	ClinGen Ensembl
CA4975369 rs367751817	1328	C>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA372854508 rs1285897446	1329	P>A		No	ClinGen TOPMed gnomAD
CA4975394 rs775384094	1329	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1475907398 CA372854512	1330	G>R		No	ClinGen gnomAD
CA372854520 rs913904882	1331	Y>C		No	ClinGen gnomAD
CA188561122 rs913904882	1331	Y>F		No	ClinGen gnomAD
CA4975395 rs560313315	1333	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4975396 rs767898260	1335	L>V		No	ClinGen ExAC gnomAD
CA188561140 rs757865629	1336	N>D		No	ClinGen gnomAD
CA372854554 rs1455365975	1336	N>S		No	ClinGen TOPMed
rs773410477 CA4975397	1338	I>S		No	ClinGen ExAC gnomAD
CA372854587 rs1277820137	1341	Q>*		No	ClinGen gnomAD
rs1041658199 CA188561160	1343	Q>R		No	ClinGen TOPMed gnomAD
CA372854607 rs1285285964	1344	K>Q		No	ClinGen gnomAD
rs1355465035 CA372854622	1346	S>T		No	ClinGen gnomAD
rs1286729424 CA372854633	1347	E>D		No	ClinGen gnomAD
rs1192031054 CA372854637	1348	I>V		No	ClinGen TOPMed
rs765480459 CA4975402	1349	T>I		No	ClinGen ExAC gnomAD
rs765480459 CA372854646	1349	T>R		No	ClinGen ExAC gnomAD
rs758027587 CA4975404	1351	E>V		No	ClinGen ExAC gnomAD
rs1486361038 CA372854677	1354	Q>E		No	ClinGen gnomAD
CA372854682 rs777464077	1354	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA188561197 rs974353752	1357	A>D		No	ClinGen TOPMed
CA188561193 rs778493235	1357	A>T		No	ClinGen TOPMed
CA372854704 rs1487197629	1358	F>L		No	ClinGen TOPMed
rs756659856 CA4975407	1359	Q>P		No	ClinGen ExAC gnomAD
rs1563730711 CA372854721	1360	P>L		No	ClinGen Ensembl
CA188561206 rs552633335	1360	P>T		No	ClinGen 1000Genomes
rs780772814 CA4975408	1361	I>V		No	ClinGen ExAC gnomAD
CA188561226 rs1056048451	1363	M>K		No	ClinGen gnomAD
CA372854736 rs1056048451	1363	M>T		No	ClinGen gnomAD
rs571170082 CA4975409	1363	M>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1233763885 CA372854755	1366	T>P		No	ClinGen TOPMed
rs375146459 CA4975410	1367	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs779971821 CA4975411	1367	P>Q		No	ClinGen ExAC gnomAD
TCGA novel	1368	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA372854775 rs1354866470	1369	Q>*		No	ClinGen gnomAD
CA4975414 rs149844862	1369	Q>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1384135756 CA372854785	1370	T>I		No	ClinGen TOPMed
rs1283415711 CA372854782	1370	T>S		No	ClinGen TOPMed gnomAD
CA188561276 rs1015903622	1371	S>R		No	ClinGen gnomAD
CA372854794 rs897528541	1372	P>A		No	ClinGen TOPMed gnomAD
CA188561291 rs113236827	1372	P>L		No	ClinGen TOPMed gnomAD
CA188561285 rs897528541	1372	P>S		No	ClinGen TOPMed gnomAD
CA372854797 rs760965880	1373	R>G		No	ClinGen ExAC TOPMed gnomAD
rs770868925 CA4975417	1373	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA4975416 rs760965880	1373	R>W		No	ClinGen ExAC TOPMed gnomAD
CA372854804 rs1438836479	1374	A>G		No	ClinGen TOPMed gnomAD
rs776805324 CA4975418	1376	E>D		No	ClinGen ExAC gnomAD
rs1378663133 CA372854814	1376	E>K		No	ClinGen TOPMed gnomAD
TCGA novel	1378	R>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA372854834 rs1173395820	1378	R>S		No	ClinGen gnomAD
CA372854830 rs1194796385	1378	R>W		No	ClinGen TOPMed
TCGA novel	1379	G>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4975419 rs759931673	1379	G>S		No	ClinGen ExAC gnomAD
rs1563730869 CA372854838	1379	G>V		No	ClinGen Ensembl
CA372854848 rs1586740752	1381	S>P		No	ClinGen Ensembl
CA372854858 rs1378360528	1382	S>T		No	ClinGen gnomAD
CA4975422 rs753050335	1383	H>R		No	ClinGen ExAC
rs765824248 CA4975421	1383	H>Y		No	ClinGen ExAC gnomAD
CA372854873 rs1307482489	1385	S>G		No	ClinGen gnomAD
rs1314333473 CA372854880	1385	S>R		No	ClinGen TOPMed gnomAD
rs764450150 CA4975424	1387	P>L		No	ClinGen ExAC TOPMed gnomAD
CA372854890 rs1586740809	1387	P>S		No	ClinGen Ensembl
CA372854899 rs1563730932	1388	Q>H		No	ClinGen Ensembl
rs751159023 CA4975425	1389	G>V		No	ClinGen ExAC gnomAD
CA4975426 CA372854912 rs756961310	1390	E>D		No	ClinGen ExAC TOPMed gnomAD
CA4975428 rs145856254	1391	V>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA4975427 rs145856254	1391	V>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA4975429 rs550417804	1392	G>A		No	ClinGen 1000Genomes ExAC gnomAD
CA4975431 rs369951068	1394	S>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs768512952 CA4975432	1394	S>R		No	ClinGen ExAC gnomAD
CA4975433 rs778873124	1395	N>S		No	ClinGen ExAC TOPMed gnomAD
CA4975435 rs771225515	1396	M>L		No	ClinGen ExAC gnomAD
rs776553031 CA4975436	1396	M>T		No	ClinGen ExAC gnomAD
rs1018206273 CA188561364	1397	V>I		No	ClinGen Ensembl
CA4975439 rs746594252	1399	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs376378176 CA4975438	1399	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA372854997 rs1409904714	1400	K>E		No	ClinGen TOPMed
CA4975444 rs751958383	1401	E>D		No	ClinGen ExAC TOPMed gnomAD
CA4975441 rs763468870	1401	E>K		No	ClinGen ExAC TOPMed gnomAD
rs763468870 CA4975442	1401	E>Q		No	ClinGen ExAC TOPMed gnomAD
TCGA novel CA188561453 rs749895946	1402	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen ExAC TOPMed gnomAD
CA372855033 rs1193902201	1402	E>G		No	ClinGen TOPMed
CA4975445 rs767256306	1402	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA4975447 rs369200435	1403	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	1404	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs913904754 CA188561480	1406	Q>E		No	ClinGen Ensembl
CA188561492 rs896482257	1406	Q>P		No	ClinGen TOPMed
CA4975450 rs1554616293	1407	A>E		No	ClinGen Ensembl
CA372855108 rs1554616293	1407	A>V		No	ClinGen Ensembl
CA188561515 rs770980698	1408	E>K		No	ClinGen gnomAD
CA4975452 rs754997905	1409	E>D		No	ClinGen ExAC TOPMed gnomAD
CA372855172 rs1488679881	1411	E>K		No	ClinGen TOPMed gnomAD
rs1488679881 CA372855170	1411	E>Q		No	ClinGen TOPMed gnomAD
rs748026732 CA4975454	1412	P>R		No	ClinGen ExAC TOPMed gnomAD
CA372855205 rs1260682629	1413	F>S		No	ClinGen gnomAD
rs757410696 CA4975455	1415	D>V		No	ClinGen ExAC gnomAD
rs1373204960 CA372855253	1416	G>A		No	ClinGen TOPMed
CA372855243 rs1479556899	1416	G>R		No	ClinGen TOPMed gnomAD
CA4975458 rs745627904	1418	Y>*		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1418	Y>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1419	D>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4975459 rs775573960	1419	D>N		No	ClinGen ExAC gnomAD

1 associated diseases with Q4ADV7

[MIM: 618761]: CATIFA syndrome (CATIFA)

An autosomal recessive disorder characterized by global developmental delay, intellectual disability, and behavioral abnormalities with mild to severe attention-deficit hyperactivity disorder. Motor, speech and cognitive deficits range from mild to severe. Patients show craniofacial dysmorphism including elongated face, short, broad upturned nose with anteverted nares and long philtrum. Additional clinical features are cleft lip/palate, tooth abnormalities, and visual impairment due to cataract, strabismus and poor visual tracking. {ECO:0000269|PubMed:27878435, ECO:0000269|PubMed:31932796}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

An autosomal recessive disorder characterized by global developmental delay, intellectual disability, and behavioral abnormalities with mild to severe attention-deficit hyperactivity disorder. Motor, speech and cognitive deficits range from mild to severe. Patients show craniofacial dysmorphism including elongated face, short, broad upturned nose with anteverted nares and long philtrum. Additional clinical features are cleft lip/palate, tooth abnormalities, and visual impairment due to cataract, strabismus and poor visual tracking. {ECO:0000269|PubMed:27878435, ECO:0000269|PubMed:31932796}. Note=The disease is caused by variants affecting the gene represented in this entry.

1 regional properties for Q4ADV7

Type	Name	Position	InterPro Accession
domain	Ribosome control protein 1	735 - 987	IPR009771

Functions

		Description
EC Number
Subcellular Localization	Cytoplasm, cytosol Membrane
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

6 GO annotations of cellular component

Name	Definition
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
Golgi membrane	The lipid bilayer surrounding any of the compartments of the Golgi apparatus.
membrane	A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.
protein-containing complex	A stable assembly of two or more macromolecules, i.e. proteins, nucleic acids, carbohydrates or lipids, in which at least one component is a protein and the constituent parts function together.
Ric1-Rgp1 guanyl-nucleotide exchange factor complex	A protein complex that acts as a nucleotide exchange factor for the GTPase Ypt6p, and is required for fusion of endosome-derived vesicles with the Golgi.
trans-Golgi network membrane	The lipid bilayer surrounding any of the compartments that make up the trans-Golgi network.

2 GO annotations of molecular function

Name	Definition
guanyl-nucleotide exchange factor activity	Stimulates the exchange of GDP to GTP on a signaling GTPase, changing its conformation to its active form. Guanine nucleotide exchange factors (GEFs) act by stimulating the release of guanosine diphosphate (GDP) to allow binding of guanosine triphosphate (GTP), which is more abundant in the cell under normal cellular physiological conditions.
small GTPase binding	Binding to a small monomeric GTPase.

6 GO annotations of biological process

Name	Definition
cranial skeletal system development	The process whose specific outcome is the progression of a cranial skeletal system over time, from its formation to the mature structure. The cranial skeletal system is the skeletal subdivision of the head, and includes the skull (cranium plus mandible), pharyngeal and/or hyoid apparatus.
intracellular protein transport	The directed movement of proteins in a cell, including the movement of proteins between specific compartments or structures within a cell, such as organelles of a eukaryotic cell.
negative regulation of protein catabolic process	Any process that stops, prevents or reduces the frequency, rate or extent of protein catabolic process.
positive regulation of GTPase activity	Any process that activates or increases the activity of a GTPase.
regulation of extracellular matrix constituent secretion	Any process that modulates the rate, frequency, or extent of the controlled release of molecules that form the extracellular matrix, including carbohydrates and glycoproteins by a cell or a group of cells.
retrograde transport, endosome to Golgi	The directed movement of membrane-bounded vesicles from endosomes back to the trans-Golgi network where they are recycled for further rounds of transport.

2 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P40395	RIC1	Guanine nucleotide exchange factor subunit RIC1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast)	PR
Q69ZJ7	Ric1	Guanine nucleotide exchange factor subunit RIC1	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MYFLSGWPKR	LLCPLGSPAE	APFHVQSDPQ	RAFFAVLAAA	RLSIWYSRPS	VLIVTYKEPA
70	80	90	100	110	120
KSSTQFGSYK	QAEWRPDSTM	IAVSTANGYI	LFFHITSTRG	DKYLYEPVYP	KGSPQMKGTP
130	140	150	160	170	180
HFKEEQCAPA	LNLEMRKILD	LQAPIMSLQS	VLEDLLVATS	DGLLHLIHWE	GMTNGRKAIN
190	200	210	220	230	240
LCTVPFSVDL	QSSRVGSFLG	FTDVHIRDME	YCATLDGFAV	VFNDGKVGFI	TPVSSRFTAE
250	260	270	280	290	300
QLHGVWPQDV	VDGTCVAVNN	KYRLMAFGCV	SGSVQVYTID	NSTGAMLLSH	KLELTAKQYP
310	320	330	340	350	360
DIWNKTGAVK	LMRWSPDNSV	VIVTWEYGGL	SLWSVFGAQL	ICTLGGDFAY	RSDGTKKDPL
370	380	390	400	410	420
KINSMSWGAE	GYHLWVISGF	GSQNTEIESD	LRSVVKQPSI	LLFQFIKSVL	TVNPCMSNQE
430	440	450	460	470	480
QVLLQGEDRL	YLNCGEASQT	QNPRSSSTHS	EHKPSREKSP	FADGGLESQG	LSTLLGHRHW
490	500	510	520	530	540
HVVQISSTYL	ESNWPIRFSA	IDKLGQNIAV	VGKFGFAHYS	LLTKKWKLFG	NITQEQNMIV
550	560	570	580	590	600
TGGLAWWNDF	MVLACYNIND	RQEELRVYLR	TSNLDNAFAH	VTKAQAETLL	LSVFQDMVIV
610	620	630	640	650	660
FRADCSICLY	SIERKSDGPN	TTAGIQVLQE	VSMSRYIPHP	FLVVSVTLTS	VSTENGITLK
670	680	690	700	710	720
MPQQARGAES	IMLNLAGQLI	MMQRDRSGPQ	IREKDSNPNN	QRKLLPFCPP	VVLAQSVENV
730	740	750	760	770	780
WTTCRANKQK	RHLLEALWLS	CGGAGMKVWL	PLFPRDHRKP	HSFLSQRIML	PFHINIYPLA
790	800	810	820	830	840
VLFEDALVLG	AVNDTLLYDS	LYTRNNAREQ	LEVLFPFCVV	ERTSQIYLHH	ILRQLLVRNL
850	860	870	880	890	900
GEQALLLAQS	CATLPYFPHV	LELMLHEVLE	EEATSREPIP	DPLLPTVAKF	ITEFPLFLQT
910	920	930	940	950	960
VVHCARKTEY	ALWNYLFAAV	GNPKDLFEEC	LMAQDLDTAA	SYLIILQNME	VPAVSRQHAT
970	980	990	1000	1010	1020
LLFNTALEQG	KWDLCRHMIR	FLKAIGSGES	ETPPSTPTAQ	EPSSSGGFEF	FRNRSISLSQ
1030	1040	1050	1060	1070	1080
SAENVPASKF	SLQKTLSMPS	GPSGKRWSKD	SDCAENMYID	MMLWRHARRL	LEDVRLKDLG
1090	1100	1110	1120	1130	1140
CFAAQLGFEL	ISWLCKERTR	AARVDNFVIA	LKRLHKDFLW	PLPIIPASSI	SSPFKNGKYR
1150	1160	1170	1180	1190	1200
TVGEQLLKSQ	SADPFLNLEM	DAGISNIQRS	QSWLSNIGPT	HHEIDTASSH	GPQMQDAFLS
1210	1220	1230	1240	1250	1260
PLSNKGDECS	IGSATDLTES	SSMVDGDWTM	VDENFSTLSL	TQSELEHISM	ELASKGPHKS
1270	1280	1290	1300	1310	1320
QVQLRYLLHI	FMEAGCLDWC	IVIGLILRES	SIINQILVIT	QSSEVDGEML	QNIKTGLHAV
1330	1340	1350	1360	1370	1380
DRWASTDCPG	YKPFLNIIKP	QLQKLSEITE	EQVQPDAFQP	ITMGKTPEQT	SPRAEESRGS
1390	1400	1410	1420
SSHGSIPQGE	VGSSNMVSRK	EEDTAQAEEE	EPFQDGTYDC	SVS