AiPD: Autoinhibited Protein Database

Q2KHM9

Gene name	KIAA0753
Protein name	Protein moonraker
Names	MNR, OFD1- and FOPNL-interacting protein
Species	Homo sapiens (Human)
KEGG Pathway	hsa:9851
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

665-738 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

665-738 (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 Q2KHM9

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q2KHM9-F1	Predicted				AlphaFoldDB

855 variants for Q2KHM9

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs199515742 RCV003166776 RCV001311103 CA8330815	68	E>K	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000885081 RCV002479009 rs201379908 CA8330806	79	V>A	Orofaciodigital syndrome XV [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV002547330 rs755693348 CA8330745 RCV001334791	201	H>Y	Orofaciodigital syndrome XV [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
VAR_079381	257	R>G	JBTS38; unknown pathological significance [UniProt]	Yes	UniProt
RCV001559336 CA8330644 RCV000590971 RCV000760916 rs762771340	315	Q>*	Jeune thoracic dystrophy Short-rib thoracic dysplasia 21 without polydactyly [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
VAR_086266	315	Q>del	SRTD21 [UniProt]	Yes	UniProt
RCV002248721 RCV000590973 RCV000984622 rs746068882 RCV001269779 CA8330639 RCV001559335	324	R>*	Orofaciodigital syndrome XV Jeune thoracic dystrophy Short-rib thoracic dysplasia 21 without polydactyly [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
VAR_086267	324	R>del	SRTD21 [UniProt]	Yes	UniProt
RCV001559337 rs1555531363 RCV000590980	424	P>missing	Jeune thoracic dystrophy Short-rib thoracic dysplasia 21 without polydactyly [ClinVar]	Yes	ClinVar dbSNP
RCV002524917 RCV000507571 RCV001559338 rs770256450	524	R>missing	Short-rib thoracic dysplasia 21 without polydactyly [ClinVar]	Yes	ClinVar dbSNP
RCV000429611 RCV002488866 CA8330385 RCV002524703 rs61735441	586	K>E	Orofaciodigital syndrome XV Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV002305473 CA10586689 RCV000241533 RCV000506654 rs886038200	631	K>*	Orofaciodigital syndrome XV [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
VAR_086268	631	K>del	OFD15 [UniProt]	Yes	UniProt
CA8330191 rs73342622 RCV000514826 RCV002490868	780	R>C	Orofaciodigital syndrome XV [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
COSM983187 RCV001330561 RCV000760915 RCV002280140 rs370840009 CA8330086	886	R>*	Variant assessed as Somatic; 0.0 impact. Orofaciodigital syndrome XV endometrium KIAA0753-related disorder [NCI-TCGA, ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
CA8330865 rs774793819	4	G>S		No	ClinGen ExAC gnomAD
CA8330864 rs771677022	7	A>T		No	ClinGen ExAC gnomAD
CA8330863 rs61753437	9	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs774192677 CA8330862	12	H>R		No	ClinGen ExAC gnomAD
CA397717115 rs1306433423	13	L>P		No	ClinGen gnomAD
rs780676235 CA287376869	14	A>P		No	ClinGen Ensembl
CA287376868 rs753029509	14	A>V		No	ClinGen gnomAD
rs1173054072 CA397717091	15	P>L		No	ClinGen TOPMed gnomAD
CA287376862 rs959028482	16	R>K		No	ClinGen Ensembl
CA8330860 rs371300870	17	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA8330858 rs769563482	22	R>G		No	ClinGen ExAC gnomAD
rs1253468337 CA397716743	24	D>N		No	ClinGen gnomAD
CA8330856 rs779995556	25	P>A		No	ClinGen ExAC gnomAD
CA397716711 rs1230939796	26	K>*		No	ClinGen TOPMed gnomAD
CA397716713 rs1230939796	26	K>E		No	ClinGen TOPMed gnomAD
CA397716671 rs1221423229	29	Q>*		No	ClinGen gnomAD
CA397716652 rs1343417545	30	T>N		No	ClinGen gnomAD
CA397415658 rs1408095270	32	N>D		No	ClinGen TOPMed
CA397415654 rs1305759128	32	N>K		No	ClinGen gnomAD
CA397415657 rs1333396738	32	N>S		No	ClinGen gnomAD
CA8330839 rs185682091	33	Q>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8330838 rs781241219	33	Q>R		No	ClinGen ExAC gnomAD
CA8330835 rs778977507	37	N>S		No	ClinGen ExAC TOPMed gnomAD
CA8330834 rs377589510	38	R>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA397415593 rs1472000709	41	P>L		No	ClinGen gnomAD
rs919533892 CA287371836	42	T>A		No	ClinGen TOPMed gnomAD
rs373664687 CA8330833	42	T>I		No	ClinGen ESP ExAC gnomAD
CA8330832 rs777984208	43	H>R		No	ClinGen ExAC TOPMed gnomAD
CA8330831 rs201429668	48	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8330827 rs751060102	49	I>M		No	ClinGen ExAC TOPMed gnomAD
CA8330828 rs555429623	49	I>V		No	ClinGen 1000Genomes ExAC gnomAD
rs200553162 CA8330826	50	R>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs762692741 CA397415541	50	R>P		No	ClinGen ExAC gnomAD
CA8330825 COSM1211993 rs762692741	50	R>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA397415520 rs1435559614	53	C>F		No	ClinGen gnomAD
rs980932244 CA287371761	55	H>Q		No	ClinGen TOPMed gnomAD
rs372289804 CA8330824	55	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1367190569 CA397415509	55	H>Y		No	ClinGen gnomAD
CA8330823 rs764920819	57	I>V		No	ClinGen ExAC TOPMed gnomAD
CA8330822 rs761708935	58	R>G		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	58	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1403309549 CA397415492	58	R>K		No	ClinGen TOPMed gnomAD
rs776321569 CA8330821	59	I>T		No	ClinGen ExAC gnomAD
rs969494899 CA287371758	59	I>V		No	ClinGen TOPMed gnomAD
CA397415470 rs1246677390	61	K>R		No	ClinGen gnomAD
TCGA novel	65	S>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA397415444 rs1325581145	65	S>A		No	ClinGen TOPMed
rs771054695 CA8330816	67	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1597596477 CA397415421	68	E>A		No	ClinGen Ensembl
rs199515742 CA397415423	68	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA8330811 rs748492774	74	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA8330810 rs781703857	75	A>T		No	ClinGen ExAC gnomAD
rs755480148 CA397415366	76	D>N		No	ClinGen ExAC TOPMed gnomAD
CA8330809 rs755480148	76	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA8330808 rs752182279	77	C>Y		No	ClinGen ExAC gnomAD
rs1289936055 CA397415352	78	R>G		No	ClinGen TOPMed
CA287371620 rs942150133	80	G>R		No	ClinGen Ensembl
CA397415335 rs1451651771	81	P>T		No	ClinGen TOPMed
rs910618983 CA287371617	82	D>Y		No	ClinGen Ensembl
rs764905029 CA8330803	84	G>D		No	ClinGen ExAC gnomAD
CA8330801 rs776421374 COSM1662431	85	S>N	kidney [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA8330800 rs763942393	88	S>*		No	ClinGen ExAC gnomAD
CA397415273 rs200629798	91	V>F		No	ClinGen ExAC TOPMed gnomAD
CA8330798 rs200629798	91	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1483894318 CA397415266	92	I>T		No	ClinGen gnomAD
rs770964465 CA8330797	92	I>V		No	ClinGen ExAC TOPMed gnomAD
CA8330795 rs749344643	96	R>K		No	ClinGen ExAC
rs1391147742 CA397415235	97	L>I		No	ClinGen TOPMed
CA397415234 rs1391147742	97	L>V		No	ClinGen TOPMed
CA8330792 rs748326391	101	V>A		No	ClinGen ExAC gnomAD
rs1362820042 CA397415207	101	V>L		No	ClinGen TOPMed
CA287371533 rs888874516	102	H>R		No	ClinGen TOPMed gnomAD
rs1301909491 CA397415175	106	R>K		No	ClinGen gnomAD
CA8330787 rs780747445	107	D>E		No	ClinGen ExAC gnomAD
CA8330786 rs374102451	110	R>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs1174601461 COSM983247 CA397415147	110	R>Q	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs371754264 CA8330785	111	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs756928654 CA8330783	112	Q>E		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	114	E>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs753545653 CA8330782	116	H>R		No	ClinGen ExAC gnomAD
rs539780176 CA397415098	117	I>K		No	ClinGen 1000Genomes ExAC gnomAD
CA8330779 rs752517059	117	I>M		No	ClinGen ExAC TOPMed gnomAD
CA397415097 rs539780176	117	I>R		No	ClinGen 1000Genomes ExAC gnomAD
CA8330781 rs539780176	117	I>T		No	ClinGen 1000Genomes ExAC gnomAD
CA8330778 rs571105900	119	E>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs571105900 CA287371462	119	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA397415077 rs1257670122	120	H>L		No	ClinGen gnomAD
CA397415080 rs1369554203	120	H>Y		No	ClinGen TOPMed
rs1207989835 CA397415074	121	H>Y		No	ClinGen gnomAD
CA397415062 rs1322214017	122	L>P		No	ClinGen gnomAD
CA397415045 rs1472485784	125	Q>K		No	ClinGen TOPMed
CA8330777 rs759402026	126	P>A		No	ClinGen ExAC gnomAD
CA397415035 rs1348170546	126	P>L		No	ClinGen gnomAD
rs773280909 CA8330776	127	Q>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA8330775 rs769835831	128	S>N		No	ClinGen ExAC gnomAD
rs957800629 CA287371416	129	S>F		No	ClinGen gnomAD
CA397415017 rs1161557672	129	S>P		No	ClinGen TOPMed
CA287371414 rs760546421	130	Q>*		No	ClinGen Ensembl
CA397415011 rs1301572345	130	Q>P		No	ClinGen gnomAD
CA287371406 rs374298223	132	C>R		No	ClinGen ESP
rs773787862 CA287371405	132	C>Y		No	ClinGen gnomAD
CA397414988 rs1472523170	133	G>A		No	ClinGen TOPMed gnomAD
CA397414981 rs1389448210	134	H>L		No	ClinGen gnomAD
CA397414982 rs1389448210	134	H>R		No	ClinGen gnomAD
CA8330774 rs762085033	135	T>A		No	ClinGen ExAC TOPMed gnomAD
rs1410442754 CA397414974	135	T>I		No	ClinGen TOPMed gnomAD
CA8330773 rs777044739	136	K>M		No	ClinGen ExAC gnomAD
rs906775657 CA287371392	137	Y>H		No	ClinGen TOPMed
CA397414958 rs1188572277	138	K>E		No	ClinGen gnomAD
rs1397577828 CA397414950	139	I>V		No	ClinGen TOPMed
rs1258095187 CA397414935	141	D>G		No	ClinGen TOPMed gnomAD
rs762345585 CA287371388	141	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
TCGA novel	142	H>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs747339578 CA8330771	144	V>A		No	ClinGen ExAC gnomAD
rs747339578 CA287371372	144	V>G		No	ClinGen ExAC gnomAD
CA397414914 rs1241929553	144	V>M		No	ClinGen TOPMed
CA397414905 rs1460771758	145	E>A		No	ClinGen gnomAD
CA397414909 rs1289657468	145	E>K		No	ClinGen TOPMed
rs780587912 CA8330770	146	R>K		No	ClinGen ExAC gnomAD
CA8330767 rs778471926	149	S>*		No	ClinGen ExAC gnomAD
CA8330766 rs756765867	150	K>E		No	ClinGen ExAC gnomAD
rs753455495 CA8330765	150	K>R		No	ClinGen ExAC gnomAD
rs534603846 CA8330764	153	A>V		No	ClinGen 1000Genomes ExAC gnomAD
rs948161987 CA287371297	156	Q>E		No	ClinGen TOPMed
rs368649180 CA8330763	157	C>*		No	ClinGen ESP ExAC gnomAD
CA397414812 rs1255724547	159	H>N		No	ClinGen TOPMed gnomAD
CA8330762 RCV000947761 rs78453634	159	H>P		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA287371290 rs78453634	159	H>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs767224280 CA8330761	162	S>T		No	ClinGen ExAC gnomAD
CA8330760 rs759518156	164	V>L		No	ClinGen ExAC TOPMed gnomAD
rs1459694427 CA397414754	167	S>F		No	ClinGen gnomAD
TCGA novel	167	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8330759 rs751511600	168	S>G		No	ClinGen ExAC gnomAD
rs1484261806 CA397414748	168	S>R		No	ClinGen TOPMed gnomAD
CA397414750 rs1161367753	168	S>T		No	ClinGen gnomAD
CA8330756 rs776884864	170	G>S		No	ClinGen ExAC TOPMed gnomAD
rs768950517 CA397414726	172	K>I		No	ClinGen ExAC gnomAD
rs1444747916 CA397414723	172	K>N		No	ClinGen gnomAD
rs768950517 CA8330755	172	K>T		No	ClinGen ExAC gnomAD
rs1489222119 CA397414673	180	P>T		No	ClinGen gnomAD
CA8330753 rs775992337	182	Q>P		No	ClinGen ExAC gnomAD
rs772378133 CA8330752	183	S>L		No	ClinGen ExAC gnomAD
CA8330750 rs779326323	186	T>P		No	ClinGen ExAC gnomAD
rs1325920374 CA397414629	187	V>M		No	ClinGen gnomAD
COSM179483 rs771497107 CA8330748	190	S>L	large_intestine Variant assessed as Somatic; 0.0001391 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs772104189 CA287371168	192	P>T		No	ClinGen Ensembl
rs1567585702 CA397414590	193	T>I		No	ClinGen Ensembl
CA287371136 rs377111903	194	H>R		No	ClinGen ESP TOPMed
CA287371146 rs267605022	194	H>Y		No	ClinGen Ensembl
CA397414581 rs1390600330	195	D>Y		No	ClinGen gnomAD
TCGA novel	196	P>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs889213757 COSM1255613 CA287371117	196	P>L	oesophagus [Cosmic]	No	ClinGen cosmic curated Ensembl
rs1393968388 CA397414570	197	G>R		No	ClinGen TOPMed gnomAD
CA397414554 rs1474418626	199	Q>R		No	ClinGen TOPMed gnomAD
rs16955985 CA8330744 CA8330743 VAR_031065	201	H>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD UniProt dbSNP
rs1018785426 CA287371089	202	P>L		No	ClinGen TOPMed
rs533103001 CA8330742	204	I>V		No	ClinGen 1000Genomes ExAC gnomAD
rs182130930 CA8330740	205	G>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs751486379 CA8330741	205	G>S		No	ClinGen ExAC gnomAD
CA8330739 rs758435202	207	H>P		No	ClinGen ExAC gnomAD
rs200246752 COSM3691744 CA8330738	208	K>E	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA8330737 rs541105394	209	N>S		No	ClinGen 1000Genomes ExAC gnomAD
CA8330736 rs760965351	210	I>R		No	ClinGen ExAC TOPMed gnomAD
rs775623858 CA8330735	215	S>G		No	ClinGen ExAC gnomAD
CA397414428 rs1410739317	218	E>D		No	ClinGen gnomAD
CA8330734 rs550649513	218	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA397414423 rs1597594413	219	V>A		No	ClinGen Ensembl
rs115325772 CA8330733 RCV000947760	219	V>I		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000996470 rs774799042 CA8330732	221	R>*		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs374787616 CA8330731	221	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs749796178 CA8330730	226	L>P		No	ClinGen ExAC gnomAD
CA287370986 rs937466692	226	L>V		No	ClinGen Ensembl
rs926360977 CA287370979	228	S>G		No	ClinGen Ensembl
CA397414367 rs1173109237	228	S>N		No	ClinGen gnomAD
CA8330729 rs772709006	229	C>R		No	ClinGen ExAC
CA397414360 rs1177110800	229	C>Y		No	ClinGen TOPMed
CA8330727 rs747779486	231	H>R		No	ClinGen ExAC gnomAD
CA8330728 rs199986970	231	H>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs970459545 CA287370962	234	E>G		No	ClinGen Ensembl
rs1198226507 CA397414319	235	E>Q		No	ClinGen gnomAD
rs754691060 CA8330725	236	V>I		No	ClinGen ExAC gnomAD
CA8330724 rs201669102	237	T>A		No	ClinGen ExAC gnomAD
rs779913062 CA8330723	238	K>*		No	ClinGen ExAC gnomAD
rs779913062 CA397414302	238	K>Q		No	ClinGen ExAC gnomAD
rs1437638097 CA397414300	238	K>R		No	ClinGen TOPMed gnomAD
CA8330722 rs758344995	239	K>T		No	ClinGen ExAC TOPMed gnomAD
CA397414287 rs1428487027	240	D>H		No	ClinGen TOPMed
rs763441975 CA8330713	240	D>V		No	ClinGen ExAC gnomAD
CA397413840 rs1264585927	241	R>S		No	ClinGen gnomAD
CA8330712 rs773761520	242	L>P		No	ClinGen ExAC gnomAD
CA397413830 rs1223501749	243	E>G		No	ClinGen gnomAD
CA397413823 rs1398646900	244	E>A		No	ClinGen TOPMed
TCGA novel	244	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA397413821 rs1398646900	244	E>V		No	ClinGen TOPMed
rs1349670432 CA397413809	246	L>S		No	ClinGen gnomAD
CA397413799 rs1454385428	247	D>E		No	ClinGen TOPMed gnomAD
CA397413803 rs1284516580	247	D>N		No	ClinGen gnomAD
CA287367894 rs982839333	249	D>N		No	ClinGen TOPMed gnomAD
COSM1385558 RCV000514129 CA8330711 rs141632537	252	R>C	large_intestine [Cosmic]	No	ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA287367875 rs919816098	252	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA8330710 rs774903749	253	R>*		No	ClinGen ExAC TOPMed gnomAD
CA397413763 rs368409165	253	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA8330709 rs368409165 COSM983244	253	R>Q	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs768138129 CA8330708	255	R>C		No	ClinGen ExAC gnomAD
rs1018514092 CA8330706	255	R>H		No	ClinGen Ensembl
rs1443196930 CA397413667	259	Q>*		No	ClinGen gnomAD
rs866350736 CA287367807	259	Q>H		No	ClinGen Ensembl
CA397413665 rs1385099246	259	Q>R		No	ClinGen gnomAD
rs531022704 CA8330704	260	E>*		No	ClinGen 1000Genomes ExAC gnomAD
rs531022704 CA397413655	260	E>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA397413635 rs1433693163	261	Q>K		No	ClinGen gnomAD
CA397413621 rs1466283728	262	A>T		No	ClinGen gnomAD
rs571768566 CA8330703	264	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8330702 rs745768903 COSM3820315	264	R>H	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs745768903 CA287367795	264	R>L		No	ClinGen ExAC TOPMed gnomAD
CA287367793 rs551812069	265	S>C		No	ClinGen 1000Genomes
rs867136520 CA287367783	266	A>S		No	ClinGen Ensembl
CA287367769 rs868639468	267	R>*		No	ClinGen TOPMed gnomAD
rs868639468 CA397413559	267	R>G		No	ClinGen TOPMed gnomAD
CA8330700 rs778952620	267	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1247836182 CA397413553	268	M>V		No	ClinGen gnomAD
CA397413534 rs1357074092	269	L>F		No	ClinGen TOPMed gnomAD
CA8330699 rs757281974	270	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA397413507 rs148231003	271	V>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs148231003 CA8330697	271	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs148231003 CA397413510	271	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA397413486 rs1429419161	273	Q>*		No	ClinGen gnomAD
rs1421865366 CA397413447	274	Q>L		No	ClinGen TOPMed
CA397413426 rs1197051540	275	Q>P		No	ClinGen TOPMed
CA397413425 rs1197051540	275	Q>R		No	ClinGen TOPMed
CA397413280 rs1262973848	276	V>A		No	ClinGen TOPMed
rs771879975 CA8330683	277	K>E		No	ClinGen ExAC gnomAD
CA397413252 rs745607486	280	Q>L		No	ClinGen ExAC gnomAD
rs745607486 CA8330682	280	Q>R		No	ClinGen ExAC gnomAD
CA397413223 rs1481503292	284	D>G		No	ClinGen gnomAD
CA8330680 rs771777741	285	K>N		No	ClinGen ExAC TOPMed gnomAD
CA8330678 rs781115646	288	P>S		No	ClinGen ExAC gnomAD
CA397413187 rs1264400290	289	H>R		No	ClinGen gnomAD
CA397413182 rs1221162360	290	K>E		No	ClinGen gnomAD
CA8330677 rs191302440	293	H>Y		No	ClinGen 1000Genomes ExAC gnomAD
rs1366654863 CA397413149	294	T>N		No	ClinGen gnomAD
rs749161518 CA8330661	298	W>R		No	ClinGen ExAC TOPMed gnomAD
CA8330660 rs773244992	299	A>E		No	ClinGen ExAC gnomAD
rs1335339331 CA397413103	299	A>T		No	ClinGen gnomAD
CA8330657 rs780122269	300	M>I		No	ClinGen ExAC TOPMed gnomAD
CA8330659 rs747045906	300	M>L		No	ClinGen ExAC gnomAD
CA8330658 rs747045906	300	M>V		No	ClinGen ExAC gnomAD
rs1451968351 CA397413090	301	S>C		No	ClinGen TOPMed gnomAD
rs576115581 CA8330656	304	A>T		No	ClinGen ExAC gnomAD
rs746157275 CA8330655	304	A>V		No	ClinGen ExAC TOPMed gnomAD
rs942285995 CA287366061	307	H>N		No	ClinGen Ensembl
CA8330652 rs754183147	307	H>R		No	ClinGen ExAC gnomAD
CA8330651 rs764612557	308	R>*		No	ClinGen ExAC TOPMed gnomAD
rs756592569 CA8330650	308	R>Q		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	310	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1362096118 CA397413030	312	R>P		No	ClinGen gnomAD
rs1362096118 CA397413029	312	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs199499810 CA8330647	312	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs766059630 CA8330645	313	A>G		No	ClinGen ExAC gnomAD
CA8330646 rs774192728	313	A>S		No	ClinGen ExAC gnomAD
rs369857425 CA397413014	315	Q>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA8330643 rs369857425	315	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA8330642 rs769716885	316	M>L		No	ClinGen ExAC gnomAD
rs769716885 CA287365909	316	M>V		No	ClinGen ExAC gnomAD
CA8330641 rs748082718	319	T>A		No	ClinGen ExAC gnomAD
CA8330640 rs775543251	320	Q>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA287365890 rs976828853	322	T>S		No	ClinGen Ensembl
CA397412961 rs1597578368	323	D>A		No	ClinGen Ensembl
rs746068882 CA8330638	324	R>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA397412955 rs748381762	324	R>L		No	ClinGen ExAC TOPMed gnomAD
rs748381762 CA8330637	324	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs376698370 CA8330635	326	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs1201707227 CA397412940	327	H>Y		No	ClinGen TOPMed
rs749608425 CA8330634	328	P>L		No	ClinGen ExAC TOPMed gnomAD
CA397412926 rs1180514522	329	L>F		No	ClinGen TOPMed
CA8330632 rs756681577	329	L>R		No	ClinGen ExAC gnomAD
COSM179481 rs753310589 CA8330631	331	A>P	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
COSM3932703 rs754578074 CA8330629	332	R>Q	urinary_tract [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs767110752 CA8330630	332	R>W		No	ClinGen ExAC TOPMed gnomAD
rs751148231 CA8330628	333	C>F		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	333	C>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8330627 rs192910138	335	E>K		No	ClinGen 1000Genomes ExAC gnomAD
CA397412886 rs1597578115	336	L>V		No	ClinGen Ensembl
CA8330625 CA397412870 rs535779021	338	S>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA287365740 rs373429830	339	L>V		No	ClinGen Ensembl
rs765009290 CA8330624	340	I>V		No	ClinGen ExAC gnomAD
rs570307040 CA8330623	341	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8330622 rs550351036	341	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8330621 rs550351036	341	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA397412853 rs1300992961	342	Q>*		No	ClinGen gnomAD
CA287365681 rs889333006	342	Q>H		No	ClinGen TOPMed
CA397412850 rs1423801936	342	Q>L		No	ClinGen TOPMed gnomAD
CA287365675 rs748738945	344	S>T		No	ClinGen gnomAD
rs771116917 CA8330618	346	C>*		No	ClinGen ExAC gnomAD
CA397412816 rs1328342119	348	V>F		No	ClinGen TOPMed
CA8330617 rs369062086	350	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1266333766 CA397412792	352	A>T		No	ClinGen gnomAD
CA397412779 rs1199091401	353	D>E		No	ClinGen gnomAD
CA397412761 rs1438806785	356	V>G		No	ClinGen gnomAD
CA397412766 rs1343747001	356	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs375354746 CA8330616	357	P>T		No	ClinGen ESP ExAC gnomAD
CA397412751 rs1338815163	358	D>G		No	ClinGen gnomAD
CA8330614 rs372155038	361	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA287365600 rs942315628	362	D>N		No	ClinGen TOPMed
CA397412717 rs1225934139	363	I>M		No	ClinGen TOPMed gnomAD
CA8330612 rs755567202	363	I>N		No	ClinGen ExAC gnomAD
CA397412719 rs755567202	363	I>T		No	ClinGen ExAC gnomAD
rs1259880358 CA397412714	364	L>Q		No	ClinGen TOPMed
TCGA novel	364	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs779438987 CA287365545	366	Q>*		No	ClinGen ExAC TOPMed gnomAD
rs779438987 CA8330610	366	Q>E		No	ClinGen ExAC TOPMed gnomAD
CA287365519 rs919357573	366	Q>H		No	ClinGen TOPMed gnomAD
rs750101982 CA8330608	367	I>N		No	ClinGen ExAC TOPMed gnomAD
CA8330609 rs750101982	367	I>T		No	ClinGen ExAC TOPMed gnomAD
CA8330583 rs201032767	369	A>G		No	ClinGen ExAC gnomAD
rs773366392 CA8330581	370	L>*		No	ClinGen ExAC TOPMed gnomAD
CA8330580 rs75495866	370	L>F		No	ClinGen ExAC gnomAD
rs762134917 CA8330579	371	E>G		No	ClinGen ExAC gnomAD
rs762134917 CA397412659	371	E>V		No	ClinGen ExAC gnomAD
CA8330577 rs769201608	372	S>F		No	ClinGen ExAC
rs777134673 CA8330578	372	S>T		No	ClinGen ExAC
CA8330576 rs186772050	373	L>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
VAR_031066 CA8330574 rs9889363	375	E>D		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
VAR_031067 rs17794522 CA287364039	375	E>G		No	ClinGen UniProt Ensembl dbSNP
rs540883922 CA8330575	375	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8330573 rs745311409	376	K>R		No	ClinGen ExAC gnomAD
CA397412615 rs1165999928	379	S>A		No	ClinGen gnomAD
rs778397313 CA8330572	379	S>L		No	ClinGen ExAC TOPMed gnomAD
rs1597571493 CA397412587	383	V>G		No	ClinGen Ensembl
CA397412583 rs1318598506	384	K>E		No	ClinGen TOPMed
CA8330568 rs755898649	384	K>R		No	ClinGen ExAC gnomAD
rs1567575632 CA397412564	386	C>F		No	ClinGen Ensembl
CA8330567 rs752565433	387	F>C		No	ClinGen ExAC TOPMed gnomAD
CA287363961 rs751258436	387	F>V		No	ClinGen Ensembl
rs371491521 CA8330566	388	S>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA8330565 rs754959783	388	S>N		No	ClinGen ExAC gnomAD
TCGA novel	388	S>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8330563 rs765484973 COSM1579357	391	R>Q	NS [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA8330564 rs750465052	391	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1243363214 CA397412530	392	S>G		No	ClinGen TOPMed
rs1289093665 CA397412524	392	S>R		No	ClinGen TOPMed gnomAD
rs1447633314 CA397412519	393	R>I		No	ClinGen gnomAD
TCGA novel	394	F>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs762114498 CA8330562	395	P>A		No	ClinGen ExAC gnomAD
rs762114498 CA287363922	395	P>S		No	ClinGen ExAC gnomAD
rs1162975129 CA397412503	396	I>V		No	ClinGen TOPMed
CA397412497 rs1268036171	397	G>S		No	ClinGen gnomAD
TCGA novel	398	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA287363903 rs970318801	399	Q>E		No	ClinGen Ensembl
CA8330560 rs181699637 RCV000933265	400	K>E		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1470349590 CA397412460	402	L>S		No	ClinGen gnomAD
TCGA novel	403	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA397412441 rs1305268617	405	W>R		No	ClinGen gnomAD
CA8330558 rs374318086	408	T>P		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	408	T>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs370733031 CA8330556	409	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA397412405 rs1417532481	410	P>Q		No	ClinGen TOPMed gnomAD
CA397412404 rs1417532481	410	P>R		No	ClinGen TOPMed gnomAD
rs757867054 CA8330555	411	K>E		No	ClinGen ExAC TOPMed gnomAD
rs1455443277 CA397412395	412	G>C		No	ClinGen TOPMed gnomAD
rs954215723 CA287363855	412	G>D		No	ClinGen TOPMed gnomAD
CA287363834 rs750334560	413	E>*		No	ClinGen ExAC gnomAD
CA397412385 rs1158767251	413	E>D		No	ClinGen gnomAD
CA8330554 rs750334560	413	E>K		No	ClinGen ExAC gnomAD
CA8330553 rs748904443	416	P>H		No	ClinGen ExAC gnomAD
rs1489813660 CA397412360	417	L>R		No	ClinGen gnomAD
CA397412356 rs1472232427	418	T>I		No	ClinGen TOPMed gnomAD
CA8330552 rs377021077	420	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs1267405004 CA397412331	422	T>A		No	ClinGen TOPMed
rs755810646 CA8330551	422	T>I		No	ClinGen ExAC gnomAD
CA8330550 rs200801628	425	Q>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs754871521 CA8330548	427	T>A		No	ClinGen ExAC gnomAD
rs1284828270 CA397412284	429	R>*		No	ClinGen TOPMed gnomAD
COSM261555 CA8330547 rs199555049	429	R>Q	Variant assessed as Somatic; 0.001252 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1014590869 CA287363775	430	P>S		No	ClinGen Ensembl
CA397412271 rs1247941991	431	S>F		No	ClinGen gnomAD
CA8330546 rs765386394	433	A>T		No	ClinGen ExAC gnomAD
rs372993343 CA8330544	435	Q>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8330545 rs377033831	435	Q>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs887477458 CA287363763	435	Q>P		No	ClinGen Ensembl
rs1353275633 CA397412240	437	L>F		No	ClinGen gnomAD
rs760953753 CA8330542	438	A>P		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	438	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8330516 rs761353839	439	D>G		No	ClinGen ExAC TOPMed gnomAD
rs201642681 CA8330539	439	D>N		No	ClinGen ExAC TOPMed gnomAD
CA397412228 rs201642681	439	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA8330515 rs776387223	440	K>E		No	ClinGen ExAC gnomAD
CA397411592 rs1395556415	440	K>R		No	ClinGen gnomAD
RCV000734393 CA8330512 rs780010794	441	Y>*		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs375957683 CA8330513	441	Y>F		No	ClinGen ESP ExAC
CA397411553 rs1455124348	442	Q>H		No	ClinGen gnomAD
CA8330511 rs772129215	443	P>L		No	ClinGen ExAC gnomAD
CA397411531 rs1387048050	444	D>G		No	ClinGen gnomAD
rs2289643 VAR_031068 CA8330509	444	D>N		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs386794940 CA287352512	444	D>N		No	ClinGen Ensembl
CA8330506 rs79720908	445	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs374358737 CA8330507	445	T>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA287352503 rs79720908	445	T>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs374358737 CA397411518	445	T>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA8330504 rs192027791	448	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	448	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs187235992 CA8330501	450	T>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA397411436 rs1290246253	451	Q>R		No	ClinGen gnomAD
CA397411420 rs1297988976	452	R>K		No	ClinGen gnomAD
rs761347097 CA8330499	452	R>W		No	ClinGen ExAC gnomAD
CA287352459 rs373945805	454	Q>P		No	ClinGen ESP TOPMed
rs372521759 CA287352456	456	E>G		No	ClinGen Ensembl
CA8330498 rs776028596	457	L>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs377358063 CA8330497	457	L>P		No	ClinGen ESP ExAC gnomAD
rs1405354924 CA397411356	458	D>V		No	ClinGen gnomAD
rs760468772 CA8330496	458	D>Y		No	ClinGen ExAC gnomAD
rs1367348426 CA397411353	459	V>I	Variant assessed as Somatic; 4.638e-05 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA397411337 rs1208772618	461	D>G		No	ClinGen TOPMed
rs772041221 CA8330494	461	D>Y		No	ClinGen ExAC gnomAD
rs1451067442 CA397411331	462	A>T		No	ClinGen Ensembl
CA397411328 rs1373208827	462	A>V		No	ClinGen TOPMed gnomAD
CA397411324 rs1476596854	463	D>G		No	ClinGen gnomAD
CA287352409 rs369071480	463	D>N		No	ClinGen Ensembl
rs770791666 CA397411318	464	I>L		No	ClinGen ExAC TOPMed gnomAD
rs770791666 CA8330490	464	I>V		No	ClinGen ExAC TOPMed gnomAD
VAR_031069 CA8330488 rs2289642	466	L>P		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA397411296 rs2289642	466	L>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA397411297 rs1199465853	466	L>V		No	ClinGen TOPMed
rs373425195 CA287352390	469	G>E		No	ClinGen ESP TOPMed
CA8330487 rs755191051	469	G>R		No	ClinGen ExAC gnomAD
CA8330486 rs747290977	470	P>L		No	ClinGen ExAC TOPMed gnomAD
CA397411208 rs758803621	471	F>C		No	ClinGen ExAC TOPMed gnomAD
rs562110568 CA8330485	471	F>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs758803621 CA8330484	471	F>S		No	ClinGen ExAC TOPMed gnomAD
rs750789168 CA8330483	472	I>F		No	ClinGen ExAC TOPMed gnomAD
rs1388925164 CA397411164	474	D>E		No	ClinGen TOPMed
CA287352380 rs867955435	475	Q>R		No	ClinGen TOPMed
rs757721943 CA8330481	482	E>G		No	ClinGen ExAC TOPMed gnomAD
rs763752752 CA8330479	483	V>A		No	ClinGen ExAC TOPMed gnomAD
rs753325728 CA8330480	483	V>M		No	ClinGen ExAC gnomAD
rs373679045 CA8330478	484	L>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs376555002 CA8330476 CA287352352	486	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs376555002 CA8330475	486	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs770832968 CA8330473	493	K>R		No	ClinGen ExAC gnomAD
rs1567564464 CA397410820	499	E>A		No	ClinGen Ensembl
CA8330470 rs776681196	499	E>K		No	ClinGen ExAC gnomAD
CA397410806 rs1448399150	500	N>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1448399150 CA397410807	500	N>T		No	ClinGen TOPMed
RCV000962462 CA8330468 VAR_031070 rs11868877	501	V>M		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA8330465 rs780213827	502	P>L		No	ClinGen ExAC gnomAD
rs747201308 CA8330466	502	P>S		No	ClinGen ExAC gnomAD
rs1567564398 CA397410752	504	R>K		No	ClinGen Ensembl
rs1164142397 CA397410726	506	K>E		No	ClinGen TOPMed
CA8330461 rs757767376	509	L>V		No	ClinGen ExAC gnomAD
COSM983231 rs754348484 CA8330460	510	A>V	endometrium Variant assessed as Somatic; 4.642e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA8330457 rs752278261	514	Q>*		No	ClinGen ExAC TOPMed gnomAD
CA397410628 rs1336965304	514	Q>R		No	ClinGen gnomAD
rs914350453 CA287352252	515	Q>R		No	ClinGen TOPMed
CA8330435 rs370311617 COSM170644	518	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA8330434 rs543617353	518	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA397410059 rs1398665915	520	A>V		No	ClinGen TOPMed
CA287351224 rs999450153	523	G>D		No	ClinGen TOPMed gnomAD
CA397409993 rs999450153	523	G>V		No	ClinGen TOPMed gnomAD
rs1214219858 CA397409880	526	S>N		No	ClinGen gnomAD
CA8330429 rs772091221	527	Q>H		No	ClinGen ExAC gnomAD
rs1272759303 CA397409824	530	S>G		No	ClinGen gnomAD
CA8330427 rs774392121	531	K>E		No	ClinGen ExAC gnomAD
rs1206700510 CA397409791	532	S>R		No	ClinGen gnomAD
rs1430942090 CA397409758	534	V>A		No	ClinGen gnomAD
rs367905050 CA287351212	534	V>M		No	ClinGen ESP TOPMed gnomAD
rs375201805 CA287351202	536	Q>*		No	ClinGen ESP
CA8330426 rs771202797	536	Q>R		No	ClinGen ExAC gnomAD
rs749607217 CA8330425	537	T>I		No	ClinGen ExAC gnomAD
CA397409691 rs1327282908	538	T>P		No	ClinGen TOPMed
rs1308223820 CA397409673	539	V>F		No	ClinGen gnomAD
CA397409647 rs1248739471	541	S>P		No	ClinGen TOPMed
CA397409634 rs1399802200	542	R>G		No	ClinGen gnomAD
CA8330424 rs773714984	545	M>T		No	ClinGen ExAC TOPMed gnomAD
rs1597529152 CA397409586	546	N>T		No	ClinGen Ensembl
CA397409580 rs748721188	547	R>L		No	ClinGen ExAC TOPMed gnomAD
CA8330422 rs748721188	547	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA8330423 rs770418447	547	R>W		No	ClinGen ExAC TOPMed gnomAD
CA287351178 rs1005827634	548	Q>H		No	ClinGen Ensembl
CA8330421 rs780733701	549	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1487240403 CA397409565	550	V>L		No	ClinGen TOPMed
rs746561247 CA8330419	552	D>E		No	ClinGen ExAC gnomAD
CA8330418 rs370770168	553	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA287351172 rs370770168	553	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs758064383 CA8330417	553	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs901060784 CA287351162	554	K>R		No	ClinGen TOPMed gnomAD
CA397409534 rs1422014037	555	A>S		No	ClinGen TOPMed
CA397409509 rs1223754984	558	I>M		No	ClinGen gnomAD
rs577766384 CA8330416	559	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs765086683 CA8330415	560	P>A		No	ClinGen ExAC gnomAD
rs757175503 CA8330414	560	P>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	560	P>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA397409500 rs757175503	560	P>R		No	ClinGen ExAC TOPMed gnomAD
rs368968088 CA287351153	562	P>L		No	ClinGen ESP TOPMed gnomAD
rs376031379 CA8330413	565	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1319494247 CA397409473	565	P>T		No	ClinGen TOPMed gnomAD
CA8330411 VAR_031071 rs2304977	566	P>L		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA8330409 rs766444004	567	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1349814240 CA397409452	569	P>A		No	ClinGen TOPMed gnomAD
TCGA novel	569	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1349814240 CA397409451	569	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA397409446 rs1233788701	570	K>E		No	ClinGen TOPMed
CA287351132 rs913729939	571	C>F		No	ClinGen TOPMed
rs1208145718 CA397409114	572	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs773610474 CA8330388	573	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs765589499 CA287350343	575	L>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs762220766 CA8330386	578	K>R		No	ClinGen ExAC gnomAD
CA397408994 rs1440981492	581	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA397408981 rs1597522564	582	R>K		No	ClinGen Ensembl
CA397408933 rs77116621	585	T>I		No	ClinGen TOPMed gnomAD
CA287350333 rs77116621	585	T>K		No	ClinGen TOPMed gnomAD
rs77116621 CA397408935	585	T>R		No	ClinGen TOPMed gnomAD
rs761316249 CA8330384	587	E>D		No	ClinGen ExAC gnomAD
rs774852600 CA8330382	590	Q>*		No	ClinGen ExAC gnomAD
rs1312048375 CA397408854	593	D>H		No	ClinGen gnomAD
CA397408840 rs771622791	595	Q>*		No	ClinGen ExAC TOPMed gnomAD
rs771622791 CA8330381	595	Q>E		No	ClinGen ExAC TOPMed gnomAD
CA8330379 rs745410220	597	E>V		No	ClinGen ExAC TOPMed gnomAD
rs778485219 CA8330378	598	S>G		No	ClinGen ExAC TOPMed gnomAD
rs940901182 CA287350304	598	S>N		No	ClinGen TOPMed gnomAD
CA397408814 rs1194151878	598	S>R		No	ClinGen TOPMed
CA397408806 rs1476806924	599	H>Q		No	ClinGen TOPMed
rs1262296127 CA397408809	599	H>R		No	ClinGen TOPMed
CA397408812 rs1381583012	599	H>Y		No	ClinGen gnomAD
rs886602215 CA287350302	601	T>A		No	ClinGen TOPMed
CA8330377 rs770580199	601	T>I		No	ClinGen ExAC gnomAD
CA8330375 rs777689887	602	G>D		No	ClinGen ExAC gnomAD
rs188289710 CA397408796	602	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8330376 rs188289710	602	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA287350288 rs949466660	604	V>A		No	ClinGen TOPMed
rs542574565 CA8330374	604	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA397408781 rs1421835629	605	E>Q		No	ClinGen TOPMed
CA8330362 rs375525438	611	L>P		No	ClinGen ESP ExAC gnomAD
CA287349905 rs924624969	612	A>G		No	ClinGen Ensembl
CA8330360 rs770565924	612	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1360458018 CA397408716	613	W>G		No	ClinGen TOPMed
CA287349902 rs1000968502	614	L>R		No	ClinGen TOPMed
rs1358513104 CA397408700	615	D>V		No	ClinGen TOPMed gnomAD
CA287349899 rs76105486	615	D>Y		No	ClinGen Ensembl
rs749026637 CA8330359	616	A>V		No	ClinGen ExAC gnomAD
rs1369631087 CA397408625	619	S>A		No	ClinGen TOPMed gnomAD
rs1181764934 CA397408612	620	K>E		No	ClinGen gnomAD
rs769668985 CA8330357	622	L>W		No	ClinGen ExAC gnomAD
TCGA novel	624	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs371331962 CA8330354	626	E>G		No	ClinGen ESP ExAC gnomAD
rs969105557 CA287349859	631	K>N		No	ClinGen Ensembl
rs1263690634 CA397408405	632	E>K		No	ClinGen gnomAD
CA397408383 rs1204275795	633	I>T		No	ClinGen TOPMed gnomAD
CA397408374 rs1244198505	634	D>E		No	ClinGen gnomAD
CA8330351 rs779205861	639	Q>L		No	ClinGen ExAC gnomAD
rs1023256962 CA287349851	640	R>W		No	ClinGen Ensembl
CA8330341 rs762480090	641	L>P		No	ClinGen ExAC gnomAD
CA8330340 rs772880200	644	L>V		No	ClinGen ExAC TOPMed gnomAD
CA8330338 rs747920319	645	D>G		No	ClinGen ExAC TOPMed gnomAD
CA287349776 rs74397983	645	D>Y		No	ClinGen gnomAD
rs1458325377 CA397407625	647	E>G		No	ClinGen TOPMed gnomAD
CA397407601 rs768711157	649	S>C		No	ClinGen ExAC TOPMed gnomAD
CA8330336 rs768711157	649	S>Y		No	ClinGen ExAC TOPMed gnomAD
CA397407582 rs1174384119	650	R>G		No	ClinGen TOPMed
rs1277285750 CA397407567	651	R>G		No	ClinGen TOPMed gnomAD
CA397407563 rs1258689371	651	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA397407548 rs1233730096	652	T>I		No	ClinGen gnomAD
rs1233730096 CA397407545	652	T>K		No	ClinGen gnomAD
rs779118164 CA8330334	653	K>E		No	ClinGen ExAC TOPMed gnomAD
rs757401083 CA8330333	655	L>P		No	ClinGen ExAC TOPMed gnomAD
rs1597516081 CA397407505	656	N>S		No	ClinGen Ensembl
rs1438385406 CA397407477	658	L>H		No	ClinGen TOPMed
rs1283778043 CA397407469	659	K>Q		No	ClinGen TOPMed
CA397407456 rs1567558083	660	A>T		No	ClinGen Ensembl
CA8330331 rs749347102	661	E>K		No	ClinGen ExAC TOPMed gnomAD
CA8330330 rs777991387	662	E>D		No	ClinGen ExAC gnomAD
rs773708871 CA287349746	663	M>I		No	ClinGen Ensembl
rs756290356 CA8330329	664	Y>C		No	ClinGen ExAC gnomAD
rs1399134175 CA397407402	664	Y>H		No	ClinGen gnomAD
CA287349736 rs968200674	666	L>F		No	ClinGen TOPMed
rs767926293 CA8330327	668	Q>P		No	ClinGen ExAC gnomAD
CA8330324 rs766825450	670	S>I		No	ClinGen ExAC TOPMed gnomAD
CA397407325 rs766825450	670	S>N		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	673	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs368931554 CA8330293	674	T>S		No	ClinGen ESP ExAC gnomAD
CA397406700 rs1419152149	678	D>G		No	ClinGen gnomAD
rs747307505 CA8330291	682	E>V		No	ClinGen ExAC gnomAD
CA397406626 rs1181121012	683	A>T		No	ClinGen TOPMed
TCGA novel	683	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs780351355 CA8330290	686	D>N		No	ClinGen ExAC gnomAD
CA397406574 rs1368140585	687	R>C		No	ClinGen gnomAD
rs758932943 CA8330289	687	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	690	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs778457555 CA8330287	691	L>P		No	ClinGen ExAC gnomAD
CA8330288 rs539591133	691	L>V		No	ClinGen 1000Genomes ExAC gnomAD
CA8330286 rs756792064	692	L>S		No	ClinGen ExAC gnomAD
rs1289921883 CA397406504	694	K>R		No	ClinGen gnomAD
CA397406490 rs1353790148	696	Q>R		No	ClinGen gnomAD
rs767229503 CA8330264	697	R>K		No	ClinGen ExAC gnomAD
rs1227030935 CA397406471	697	R>S		No	ClinGen gnomAD
rs1382827864 CA397406469	698	V>I		No	ClinGen TOPMed
rs200544568 CA8330262	699	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs751382240 CA8330261	701	T>S		No	ClinGen ExAC TOPMed gnomAD
CA287347002 rs369104199	702	T>A		No	ClinGen ESP TOPMed gnomAD
rs1409193994 CA397406442	702	T>R		No	ClinGen gnomAD
rs1003104463 CA287346996	703	E>Q		No	ClinGen Ensembl
CA397406423 rs1425777089	705	N>S		No	ClinGen gnomAD
rs1397099823 CA397406415	706	I>M		No	ClinGen TOPMed
CA8330259 rs762945095	706	I>T		No	ClinGen ExAC TOPMed
rs201648021 CA8330260	706	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1477005585 CA397406410	707	H>R		No	ClinGen gnomAD
rs776681288 CA8330258	709	K>*		No	ClinGen ExAC gnomAD
CA397406387 rs1178753904	710	D>A		No	ClinGen gnomAD
CA8330257 rs764208884	712	S>L		No	ClinGen ExAC TOPMed gnomAD
CA397406357 rs1313223464	715	N>S		No	ClinGen gnomAD
rs1281332711 CA397406349	716	T>I		No	ClinGen gnomAD
rs774918978 CA8330252	717	A>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	719	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1597493368 CA397406316	721	P>L		No	ClinGen Ensembl
CA8330248 rs777384286	721	P>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1316487988 CA397406304	723	Q>P		No	ClinGen TOPMed
rs755537723 CA8330247	724	E>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs867943185 CA287346054	725	V>A		No	ClinGen TOPMed gnomAD
rs867943185 CA397405897	725	V>D		No	ClinGen TOPMed gnomAD
CA397405891 rs1487595511	726	A>G		No	ClinGen TOPMed gnomAD
CA397405890 rs1487595511	726	A>V		No	ClinGen TOPMed gnomAD
rs754573457 CA8330224	729	D>V		No	ClinGen ExAC gnomAD
rs79163662 CA287346046	731	E>*		No	ClinGen ExAC TOPMed gnomAD
rs79163662 CA8330223	731	E>K		No	ClinGen ExAC TOPMed gnomAD
rs779795549 CA8330222	733	N>D		No	ClinGen ExAC gnomAD
CA397405847 rs1231225420	733	N>S		No	ClinGen gnomAD
CA397405842 rs1354647396	734	N>D		No	ClinGen gnomAD
CA8330220 rs559652757	734	N>K		No	ClinGen ExAC gnomAD
CA8330221 rs758152422	734	N>S		No	ClinGen ExAC TOPMed gnomAD
CA397405832 rs1458003063	735	I>M		No	ClinGen gnomAD
rs1287757564 CA397405834	735	I>T		No	ClinGen gnomAD
CA8330219 rs778661528	735	I>V		No	ClinGen ExAC gnomAD
rs752702161 CA8330217	736	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA8330216 RCV000924071 rs191670145	736	R>H		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs752702161 CA8330218	736	R>S		No	ClinGen ExAC TOPMed gnomAD
rs1041096614 CA287346039	738	L>F		No	ClinGen gnomAD
rs1041096614 CA397405820	738	L>I		No	ClinGen gnomAD
CA8330214 rs751788462	740	D>E		No	ClinGen ExAC gnomAD
rs1427211226 CA397405795	741	F>S		No	ClinGen gnomAD
rs766729427 CA8330213	743	E>G		No	ClinGen ExAC gnomAD
rs1247485955 CA397405755	747	S>G		No	ClinGen TOPMed
rs762442043 CA8330209	751	A>V		No	ClinGen ExAC gnomAD
CA397405701 rs1318884026	754	H>Q		No	ClinGen TOPMed gnomAD
rs1185515620 CA397405688	756	K>N		No	ClinGen TOPMed
CA397405668 rs746555515	759	G>E		No	ClinGen ExAC TOPMed gnomAD
CA8330206 rs746555515	759	G>V		No	ClinGen ExAC TOPMed gnomAD
rs1324584422 CA397405672	759	G>W		No	ClinGen gnomAD
CA397405664 rs561375556	760	S>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8330204 rs561375556	760	S>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA287346014 rs531928544	760	S>P		No	ClinGen TOPMed gnomAD
CA397405650 rs1460554847	762	T>I		No	ClinGen gnomAD
CA8330203 rs745599763	764	A>G		No	ClinGen ExAC gnomAD
CA8330201 rs189105609	766	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	767	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1373008849 CA397405626	767	E>K		No	ClinGen gnomAD
rs753850176 CA8330200	771	D>G		No	ClinGen ExAC gnomAD
CA397405571 rs1200274174	771	D>N		No	ClinGen TOPMed gnomAD
rs1251147900 CA397405557	772	S>G		No	ClinGen gnomAD
CA287346002 rs77092221	772	S>I		No	ClinGen ExAC gnomAD
rs77092221 CA8330199	772	S>N		No	ClinGen ExAC gnomAD
CA8330198 rs755057472	773	P>L		No	ClinGen ExAC TOPMed gnomAD
CA397405537 rs755057472	773	P>R		No	ClinGen ExAC TOPMed gnomAD
rs1445385596 CA397405534	774	D>H		No	ClinGen TOPMed
CA8330196 rs374396279	777	I>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8330194 rs750740421	778	M>T		No	ClinGen ExAC TOPMed
CA8330193 rs765683193	779	M>T		No	ClinGen ExAC gnomAD
rs769068383 CA8330190	780	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs769068383 CA397405442	780	R>L		No	ClinGen ExAC TOPMed gnomAD
CA8330192 rs73342622	780	R>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA397405437 rs1279452494	781	R>*		No	ClinGen TOPMed
CA8330189 rs780549298	781	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA8330186 rs745564947	785	M>I		No	ClinGen ExAC gnomAD
rs771712710 CA8330187	785	M>T		No	ClinGen ExAC gnomAD
rs774988932 CA8330188	785	M>V		No	ClinGen ExAC gnomAD
rs770501065 CA8330164	788	Y>S		No	ClinGen ExAC gnomAD
CA8330163 rs749044639 RCV000760918	789	Q>*		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA397405183 rs1170155114	791	S>F		No	ClinGen TOPMed
CA8330162 rs772946351	792	V>I		No	ClinGen ExAC TOPMed gnomAD
rs769840990 CA8330161	793	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA8330160 rs201209190	793	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8330159 rs201209190	793	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs537332793 CA8330158	796	Y>*		No	ClinGen 1000Genomes ExAC gnomAD
CA397405125 rs1394903862	796	Y>C		No	ClinGen TOPMed
CA8330156 rs779141187	800	A>S		No	ClinGen ExAC TOPMed gnomAD
rs779141187 CA397405077	800	A>T		No	ClinGen ExAC TOPMed gnomAD
CA397405068 rs1285702526	800	A>V		No	ClinGen gnomAD
rs1370433470 CA397405034	803	D>A		No	ClinGen TOPMed
CA287345477 rs771475010	803	D>N		No	ClinGen Ensembl
CA8330155 rs757429074	804	P>A		No	ClinGen ExAC gnomAD
TCGA novel	804	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1349477941 CA397405015	805	R>*		No	ClinGen TOPMed gnomAD
rs376250876 CA8330154	805	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA8330153 rs764505034	807	W>*		No	ClinGen ExAC gnomAD
rs1235509123 CA397404995	807	W>R		No	ClinGen gnomAD
rs747726984 CA287345466	809	Q>E		No	ClinGen gnomAD
rs747726984 CA397404968	809	Q>K		No	ClinGen gnomAD
CA287345464 rs949884394	810	E>K		No	ClinGen TOPMed gnomAD
rs753158965 CA8330151	811	E>A		No	ClinGen ExAC TOPMed gnomAD
CA8330152 rs201360042	811	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1166027695 CA397404203	814	D>A		No	ClinGen gnomAD
rs1400231917 CA397404887	814	D>H		No	ClinGen gnomAD
TCGA novel	816	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8330132 rs754134918	817	I>F		No	ClinGen ExAC gnomAD
CA287343729 rs754134918	817	I>V		No	ClinGen ExAC gnomAD
rs1466839486 CA397404160	819	A>G		No	ClinGen gnomAD
TCGA novel	820	I>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA287343724 rs1008499971	820	I>V		No	ClinGen TOPMed
rs372563447 CA8330130	825	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	826	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1293165386 CA397404097	829	P>A		No	ClinGen TOPMed
CA397404093 rs1271344880	829	P>L		No	ClinGen gnomAD
rs369517542 CA8330129	830	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA287343713 rs557216173	831	R>G		No	ClinGen gnomAD
CA397404081 rs1286595214	831	R>S		No	ClinGen TOPMed
CA8330128 rs751067090	833	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA287343706 rs1050352747	834	K>T		No	ClinGen TOPMed gnomAD
rs1240088481 CA397404056	835	T>I		No	ClinGen TOPMed
rs762636221 CA8330126	836	V>A		No	ClinGen ExAC gnomAD
rs750057894 CA8330125	838	R>C		No	ClinGen ExAC TOPMed gnomAD
CA8330124 rs765004531	838	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA397404039 rs765004531	838	R>L		No	ClinGen ExAC gnomAD
rs1234265337 CA397404034	839	K>R		No	ClinGen gnomAD
CA8330123 rs761644567	841	P>T		No	ClinGen ExAC TOPMed gnomAD
CA8330121 rs376343290	843	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs760591697 CA8330120	845	I>V		No	ClinGen ExAC gnomAD
CA287343686 rs920036615	849	R>G		No	ClinGen TOPMed
CA8330119 rs774472432	850	P>A		No	ClinGen ExAC gnomAD
rs1178808159 CA397403954	851	C>Y		No	ClinGen gnomAD
CA287343675 rs1037103894	852	N>D		No	ClinGen TOPMed gnomAD
CA8330105 rs368690190	858	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA287343504 rs1029014632	861	G>E		No	ClinGen TOPMed
CA8330101 rs373949800	865	G>E		No	ClinGen ESP ExAC gnomAD
rs371289252 CA8330102	865	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA8330098 rs762965480	869	R>T		No	ClinGen ExAC gnomAD
CA397403807 rs1222979836	871	A>T		No	ClinGen TOPMed gnomAD
rs773340352 CA8330097	872	P>S		No	ClinGen ExAC TOPMed gnomAD
CA397403788 rs1567538712	874	L>F		No	ClinGen Ensembl
CA8330094 rs777032681	876	L>P		No	ClinGen ExAC gnomAD
rs1334576620 CA397403777	876	L>V		No	ClinGen gnomAD
CA8330091 rs780357370	878	E>D		No	ClinGen ExAC TOPMed gnomAD
rs747430716 CA8330092	878	E>K		No	ClinGen ExAC gnomAD
CA397403755 rs1158000188	879	D>E		No	ClinGen gnomAD
CA8330090 rs758955720	883	K>Q		No	ClinGen ExAC gnomAD
CA8330089 rs200387425	883	K>T		No	ClinGen ExAC gnomAD
rs1186277883 CA397403723	884	E>A		No	ClinGen gnomAD
rs756935316 CA8330087	885	G>D		No	ClinGen ExAC
RCV000914395 rs199909867 CA8330085	886	R>Q		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA8330084 rs755802598	887	A>T		No	ClinGen ExAC gnomAD
rs752553305 CA8330083	887	A>V		No	ClinGen ExAC TOPMed gnomAD
CA8330082 rs145708496	888	P>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs759539477 CA8330081	889	L>I		No	ClinGen ExAC TOPMed gnomAD
CA397403697 rs1337266033	889	L>R		No	ClinGen gnomAD
rs759539477 CA397403701	889	L>V		No	ClinGen ExAC TOPMed gnomAD
rs1432691555 CA397403695	890	F>L		No	ClinGen TOPMed
CA8330079 rs773245962	892	P>L		No	ClinGen ExAC gnomAD
rs1383514962 CA397403676	893	P>A		No	ClinGen TOPMed
CA8330077 rs112740973	893	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8330076 rs112740973 RCV000924070	893	P>R		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA8330074 rs747277719	894	G>R		No	ClinGen ExAC gnomAD
CA8330073 rs775979070	894	G>V		No	ClinGen ExAC gnomAD
CA8330072 rs149782904 RCV000905442	896	Q>*		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1443417 CA397403657	896	Q>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1443417 CA397403658	896	Q>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
VAR_031072 rs1443417 CA8330071	896	Q>R		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA287343427 rs386794938	896	Q>W		No	ClinGen Ensembl
rs925155242 CA287343424	899	I>F		No	ClinGen TOPMed
CA397403630 rs1163181160	900	G>S		No	ClinGen TOPMed gnomAD
CA397403623 rs1461310603	901	D>A		No	ClinGen gnomAD
rs373825506 CA8330069	903	C>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA397403601 rs1181806080	904	S>R		No	ClinGen TOPMed
rs777236349 CA8330067	905	R>C		No	ClinGen ExAC TOPMed gnomAD
rs61735434 CA287343408	905	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs777236349 CA397403595	905	R>S		No	ClinGen ExAC TOPMed gnomAD
rs200664521 CA8330066	907	E>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8330065 rs752432358	908	Q>*		No	ClinGen ExAC gnomAD
CA397403573 rs1251420486	908	Q>R		No	ClinGen gnomAD
CA8330064 rs767387255	910	L>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1035797074 CA287343398	911	R>Q		No	ClinGen TOPMed gnomAD
rs754889473 COSM2797187 CA8330063	911	R>W	oesophagus [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA397403551 rs1229465596	912	I>F		No	ClinGen gnomAD
CA397403553 rs1229465596	912	I>L		No	ClinGen gnomAD
CA397403545 rs1305713684	913	I>V		No	ClinGen gnomAD
rs1003879586 CA287343395	914	S>A		No	ClinGen Ensembl
TCGA novel	916	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1597465707 CA397403514	917	A>V		No	ClinGen Ensembl
rs550842668 CA8330062	918	V>I		No	ClinGen 1000Genomes ExAC gnomAD
rs1323547942 CA397403503	919	G>A		No	ClinGen TOPMed gnomAD
rs1323547942 CA397403502	919	G>V		No	ClinGen TOPMed gnomAD
CA397403497 rs1397573056	920	S>F		No	ClinGen TOPMed gnomAD
CA8330061 rs766334946	920	S>P		No	ClinGen ExAC TOPMed gnomAD
rs1300301210 CA397403494	921	F>V		No	ClinGen gnomAD
rs199627553 CA8330059	922	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
RCV000420730 CA8330057 rs371406853	923	P>L		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs376716723 CA8330058	923	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	924	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8330054 rs564999768	926	I>L		No	ClinGen 1000Genomes ExAC
CA8330053 rs61735435	926	I>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA397403458 rs1236278085	927	A>T		No	ClinGen TOPMed
CA397403440 rs1379735421	929	S>T		No	ClinGen TOPMed gnomAD
rs1183587195 CA397408196	931	S>*		No	ClinGen TOPMed
rs756175086 CA8330021	932	E>K		No	ClinGen ExAC TOPMed gnomAD
CA397408178 rs1186218996	933	E>*		No	ClinGen gnomAD
CA397408165 rs1422768163	933	E>D		No	ClinGen TOPMed
rs1447134895 CA397408168	933	E>V		No	ClinGen gnomAD
rs752842358 CA8330020	934	L>M		No	ClinGen ExAC gnomAD
rs752842358 CA397408160	934	L>V		No	ClinGen ExAC gnomAD
TCGA novel	935	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8330019 rs767842862	935	V>L		No	ClinGen ExAC gnomAD
CA8330018 rs755321053	937	E>K		No	ClinGen ExAC gnomAD
rs751943420 CA8330017	938	A>T		No	ClinGen ExAC gnomAD
CA397408101 rs1284183779	939	L>V		No	ClinGen TOPMed gnomAD
CA8330015 rs763250608	940	G>D		No	ClinGen ExAC
rs773730122 CA397408077	941	A>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs773730122 CA8330014	941	A>G		No	ClinGen ExAC TOPMed gnomAD
CA397408081 rs1432125316	941	A>S		No	ClinGen gnomAD
rs1316349782 CA397408070	942	V>L		No	ClinGen gnomAD
rs765667147 CA8330013	943	A>G		No	ClinGen ExAC TOPMed gnomAD
CA397408056 rs765667147	943	A>V		No	ClinGen ExAC TOPMed gnomAD
CA397408046 rs761328772	944	A>D		No	ClinGen ExAC gnomAD
rs761328772 CA8330012	944	A>G		No	ClinGen ExAC gnomAD
rs1395557069 CA397408052	944	A>T		No	ClinGen gnomAD
CA397408034 rs1597441671	945	E>G		No	ClinGen Ensembl
rs189121330 CA8330010	947	Q>E		No	ClinGen 1000Genomes ExAC gnomAD
rs746702772 CA8330009	947	Q>R		No	ClinGen ExAC gnomAD
rs1243308573 CA397407991	948	D>V		No	ClinGen gnomAD
TCGA novel	949	M>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs775240377 CA8330008	949	M>V		No	ClinGen ExAC gnomAD
TCGA novel	951	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1253310419 CA397407951	951	E>K		No	ClinGen TOPMed gnomAD
CA8330006 rs745677835	955	E>Q		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	956	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs778839724 CA8330005	957	V>A		No	ClinGen ExAC gnomAD
CA397407875 rs1597441533	957	V>M		No	ClinGen Ensembl
CA8330004 rs757203367	958	F>L		No	ClinGen ExAC TOPMed gnomAD
CA8330003 rs748238761	960	S>T		No	ClinGen ExAC gnomAD
TCGA novel	961	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	963	L>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8330002 rs781464595	963	L>F		No	ClinGen ExAC gnomAD
CA8330001 rs546336520	964	E>V		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	965	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1223310181 CA397407753	966	A>T		No	ClinGen gnomAD

3 associated diseases with Q2KHM9

[MIM: 617127]: Orofaciodigital syndrome 15 (OFD15)

A form of orofaciodigital syndrome, a group of heterogeneous disorders characterized by malformations of the oral cavity, face and digits, and associated phenotypic abnormalities that lead to the delineation of various subtypes. OFD15 features include facial dysmorphism, lobulated tongue, clefting of the alveolar ridges, left hand postaxial polydactyly, broad right hallux and left hallux duplication, and intermittent respiratory difficulty. Brain anomalies include vermis hypoplasia with molar tooth sign, agenesis of corpus callosum, and ventricular dilation. OFD15 inheritance is autosomal recessive. {ECO:0000269|PubMed:26643951}. Note=The disease may be caused by variants affecting the gene represented in this entry.

[MIM: 619476]: Joubert syndrome 38 (JBTS38)

A form of Joubert syndrome, a disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy, renal disease, liver fibrosis, and polydactyly. JBTS38 inheritance is autosomal recessive. {ECO:0000269|PubMed:28220259}. Note=The disease may be caused by variants affecting the gene represented in this entry.

[MIM: 619479]: Short-rib thoracic dysplasia 21 without polydactyly (SRTD21)

A form of short-rib thoracic dysplasia, a group of autosomal recessive ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. Polydactyly is variably present. Non-skeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of the disease are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life. Disease spectrum encompasses Ellis-van Creveld syndrome, asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino syndrome, and short rib-polydactyly syndrome. {ECO:0000269|PubMed:29138412, ECO:0000269|PubMed:31816441, ECO:0000269|PubMed:33875766}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

A form of orofaciodigital syndrome, a group of heterogeneous disorders characterized by malformations of the oral cavity, face and digits, and associated phenotypic abnormalities that lead to the delineation of various subtypes. OFD15 features include facial dysmorphism, lobulated tongue, clefting of the alveolar ridges, left hand postaxial polydactyly, broad right hallux and left hallux duplication, and intermittent respiratory difficulty. Brain anomalies include vermis hypoplasia with molar tooth sign, agenesis of corpus callosum, and ventricular dilation. OFD15 inheritance is autosomal recessive. {ECO:0000269|PubMed:26643951}. Note=The disease may be caused by variants affecting the gene represented in this entry.
A form of Joubert syndrome, a disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy, renal disease, liver fibrosis, and polydactyly. JBTS38 inheritance is autosomal recessive. {ECO:0000269|PubMed:28220259}. Note=The disease may be caused by variants affecting the gene represented in this entry.
A form of short-rib thoracic dysplasia, a group of autosomal recessive ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. Polydactyly is variably present. Non-skeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of the disease are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life. Disease spectrum encompasses Ellis-van Creveld syndrome, asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino syndrome, and short rib-polydactyly syndrome. {ECO:0000269|PubMed:29138412, ECO:0000269|PubMed:31816441, ECO:0000269|PubMed:33875766}. Note=The disease is caused by variants affecting the gene represented in this entry.

1 regional properties for Q2KHM9

Type	Name	Position	InterPro Accession
active_site	Serine carboxypeptidase, serine active site	179 - 186	IPR018202

Functions

		Description
EC Number
Subcellular Localization	Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriolar satellite Cytoplasm, cytoskeleton, microtubule organizing center, centrosome	Localization to centrioles and pericentriolar satellites may be mediated by interaction with PCM1
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

4 GO annotations of cellular component

Name	Definition
centriolar satellite	A small (70-100 nm) cytoplasmic granule that contains a number of centrosomal proteins; centriolar satellites traffic toward microtubule minus ends and are enriched near the centrosome.
centriole	A cellular organelle, found close to the nucleus in many eukaryotic cells, consisting of a small cylinder with microtubular walls, 300-500 nm long and 150-250 nm in diameter. It contains nine short, parallel, peripheral microtubular fibrils, each fibril consisting of one complete microtubule fused to two incomplete microtubules. Cells usually have two centrioles, lying at right angles to each other. At division, each pair of centrioles generates another pair and the twin pairs form the pole of the mitotic spindle.
centrosome	A structure comprised of a core structure (in most organisms, a pair of centrioles) and peripheral material from which a microtubule-based structure, such as a spindle apparatus, is organized. Centrosomes occur close to the nucleus during interphase in many eukaryotic cells, though in animal cells it changes continually during the cell-division cycle.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.

No GO annotations of molecular function

Name	Definition
No GO annotations for molecular function

4 GO annotations of biological process

Name	Definition
centriole replication	The cell cycle process in which a daughter centriole is formed perpendicular to an existing centriole. An immature centriole contains a ninefold radially symmetric array of single microtubules; mature centrioles consist of a radial array of nine microtubule triplets, doublets, or singlets depending upon the species and cell type. Duplicated centrioles also become the ciliary basal body in cells that form cilia during G0.
cilium assembly	The assembly of a cilium, a specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface. Each cilium is bounded by an extrusion of the cytoplasmic membrane, and contains a regular longitudinal array of microtubules, anchored basally in a centriole.
cytosolic ciliogenesis	The process in which an axoneme is exposed entirely or partially to the cytoplasm or by which the cytoplasmic portion is assembled or extended. Cytosolic ciliogenesis can occur following compartmentalized ciliogenesis, in which the cilium is formed within a compartment separated from the cytoplasm.
protein localization to centrosome	A process in which a protein is transported to, or maintained at, the centrosome.

1 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q6A000	Kiaa0753	Protein moonraker	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MGPGQPASTC	VHLAPRTQLD	GRSDPKVLQT	QNQLQFNRNV	PTHSSNLAIR	YSCPHAIRIE
70	80	90	100	110	120
KLKHSYNESY	HCKDADCRVG	PDLGSSVSFS	VISQERLSYA	VHLARRDVKR	RQFEKHIKEH
130	140	150	160	170	180
HLRSQPQSSQ	KCGHTKYKIP	DHRVERKESK	SQAACQCSHQ	PSKVEISSSG	AKVYLYSSHP
190	200	210	220	230	240
GQSDLTVPNS	PPTHDPGLQP	HPRIGDHKNI	SEQKSLLEVQ	RLQKELSSCI	HKIEEVTKKD
250	260	270	280	290	300
RLEEALDPDE	ERRIRIRRQE	QAARSARMLY	VLQQQVKEIQ	EELDKLSPHK	IKHTKKSWAM
310	320	330	340	350	360
SKLAAAHRGA	IRALQMFVTQ	FTDRGEHPLP	ARCKELGSLI	RQLSLCSVKL	DADPSVPDVV
370	380	390	400	410	420
IDILQQIEAL	ESLLEKKLSP	KKVKKCFSEI	RSRFPIGSQK	ALERWPSTSP	KGERRPLTAK
430	440	450	460	470	480
DTFPQETSRP	SVAKQLLADK	YQPDTELPET	QRLQSELDVL	DADIVLEEGP	FILDQSASFK
490	500	510	520	530	540
DEVLAVAKTK	AGKKKPVTEN	VPFRKKDTLA	PARQQGLRKA	ERGRQSQPHS	KSRVQQTTVS
550	560	570	580	590	600
SRLKMNRQPV	KDRKAPWIPP	NPTSPPASPK	CAAWLKVKTS	PRDATKEPLQ	QEDPQEESHL
610	620	630	640	650	660
TGAVEHEAAR	LAWLDAETSK	RLKELEELKA	KEIDSMQKQR	LDWLDAETSR	RTKELNELKA
670	680	690	700	710	720
EEMYRLQQLS	VSATHLADKV	EEAVLDRLKP	LLVKAQRVNS	TTEANIHLKD	GSSVNTAKAQ
730	740	750	760	770	780
PAQEVAAVDF	ESNNIRQLDD	FLEDCASELW	AVTHAKILGS	ETLATVEDSK	DSPDLEIMMR
790	800	810	820	830	840
RMEEMEKYQE	SVRQRYNKIA	YADPRLWMQE	ENNDQKISAI	SEKPLSPHPI	RITKTVDRKD
850	860	870	880	890	900
PAVNIMLERP	CNGNSLDESV	GTEEGSEKRE	APLLSLAEDS	QQKEGRAPLF	VPPGMQHSIG
910	920	930	940	950	960
DYCSRFEQYL	RIISHEAVGS	FNPWLIAESF	SEELVDEALG	AVAAELQDMC	EDYAEAVFTS

EFLEAAT