AiPD: Autoinhibited Protein Database

Q14324

Gene name	MYBPC2 (MYBPCF)
Protein name	Myosin-binding protein C, fast-type
Names	Fast MyBP-C, C-protein, skeletal muscle fast isoform
Species	Homo sapiens (Human)
KEGG Pathway	hsa:4606
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-70 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-70 (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

4 structures for Q14324

Entry ID	Method	Resolution	Chain	Position	Source
2E7C	NMR	-	A	824-934	PDB
2EDK	NMR	-	A	345-438	PDB
2EDN	NMR	-	A	47-157	PDB
AF-Q14324-F1	Predicted				AlphaFoldDB

1141 variants for Q14324

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1416134927 CA406995361	2	P>A		No	ClinGen gnomAD
CA406995372 rs1467694759	3	E>K		No	ClinGen gnomAD
CA9597135 rs778223475	4	A>T		No	ClinGen ExAC TOPMed gnomAD
CA406995421 rs1395190045	6	P>S		No	ClinGen gnomAD
rs749422011 CA9597136	7	A>T		No	ClinGen ExAC gnomAD
rs201530737 CA9597160	7	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9597164 rs776741299	9	K>Q		No	ClinGen ExAC gnomAD
CA309609538 rs915894308	10	K>M		No	ClinGen TOPMed
rs773357591	10	K>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA9597165 rs761743423	11	A>D		No	ClinGen ExAC gnomAD
rs1487066820 CA406995846	11	A>S		No	ClinGen gnomAD
CA9597166 rs761743423	11	A>V		No	ClinGen ExAC gnomAD
rs772845741 CA9597167	12	P>H		No	ClinGen ExAC TOPMed gnomAD
CA406995853 rs772845741	12	P>L		No	ClinGen ExAC TOPMed gnomAD
rs772845741 CA9597168	12	P>R		No	ClinGen ExAC TOPMed gnomAD
CA406995850 rs1427330272	12	P>T		No	ClinGen gnomAD
rs766070785 CA9597169	14	G>S		No	ClinGen ExAC TOPMed gnomAD
rs970038994 CA309609541	15	K>N		No	ClinGen TOPMed
TCGA novel	16	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA406995882 rs1453235359	17	A>S		No	ClinGen gnomAD
CA9597172 rs756505244	18	P>S		No	ClinGen ExAC gnomAD
CA406995904 rs1346552248	20	G>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA406995911 rs1454135193	21	A>D		No	ClinGen TOPMed gnomAD
CA406995910 rs1454135193	21	A>V		No	ClinGen TOPMed gnomAD
CA9597175 rs757836876	24	E>D		No	ClinGen ExAC TOPMed gnomAD
CA9597174 rs754319634	24	E>G		No	ClinGen ExAC gnomAD
rs1158897229 CA406995948	25	A>D		No	ClinGen TOPMed
rs548457408 CA9597177	26	P>H		No	ClinGen 1000Genomes ExAC gnomAD
CA9597176 rs779279363	26	P>S		No	ClinGen ExAC TOPMed gnomAD
rs780444483 CA9597179	27	P>L		No	ClinGen ExAC TOPMed gnomAD
CA406995983 rs1318887226	28	K>R		No	ClinGen TOPMed gnomAD
CA9597180 rs57092106 VAR_061321	29	E>K		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA406996004 rs1485085927	29	E>V		No	ClinGen gnomAD
rs931048087 CA309609553	30	A>S		No	ClinGen TOPMed
rs1254132962 CA406996021	30	A>V		No	ClinGen gnomAD
rs781099771 CA9597183	32	A>T		No	ClinGen ExAC gnomAD
rs1191148598 CA406996064	33	E>D		No	ClinGen gnomAD
rs769812631 CA9597187	34	A>D		No	ClinGen ExAC TOPMed gnomAD
rs769812631 CA9597186	34	A>G		No	ClinGen ExAC TOPMed gnomAD
rs747892439 CA9597184	34	A>T		No	ClinGen ExAC gnomAD
rs769812631 CA9597185	34	A>V		No	ClinGen ExAC TOPMed gnomAD
CA406996090 rs1157883778	36	K>E		No	ClinGen gnomAD
rs1361887610 CA406996105	37	E>K		No	ClinGen gnomAD
CA406996107 rs1361887610	37	E>Q		No	ClinGen gnomAD
rs748025062 CA406997128	41	E>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
COSM1129749 CA9597200 rs374389710	41	E>K	Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs1275668017 CA406997122	41	E>V		No	ClinGen gnomAD
rs1203133182 CA406997136	42	D>N		No	ClinGen gnomAD
rs1203133182 CA406997139	42	D>Y		No	ClinGen gnomAD
rs1381467395 CA406997166	43	Q>H		No	ClinGen TOPMed gnomAD
CA406997187 rs931895885	44	S>C		No	ClinGen TOPMed gnomAD
CA406997190 rs931895885	44	S>F		No	ClinGen TOPMed gnomAD
rs1601279759 CA406997177	44	S>T		No	ClinGen Ensembl
rs931895885 CA309609643	44	S>Y		No	ClinGen TOPMed gnomAD
CA9597203 rs200367701	45	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9597202 rs200367701	45	P>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9597206 rs375528821	47	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1188243325 CA406997260	48	E>V		No	ClinGen gnomAD
CA9597207 rs759038801	50	P>H		No	ClinGen ExAC gnomAD
rs25669 CA406997332	52	G>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
VAR_014657 rs25669 CA9597209	52	G>S		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA9597211 rs765476587 COSM287320	53	V>I	Variant assessed as Somatic; 0.0 impact. large_intestine breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs765476587 CA406997348	53	V>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1355254680 CA406997360	54	F>L		No	ClinGen gnomAD
rs750943934 CA9597212	57	K>R		No	ClinGen ExAC gnomAD
CA9597213 rs372390241	58	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1294841621 CA406997474	59	D>G		No	ClinGen TOPMed gnomAD
CA406997478 rs1294841621	59	D>V		No	ClinGen TOPMed gnomAD
rs755087945 CA9597216	60	S>C		No	ClinGen ExAC gnomAD
CA9597219 rs755945645	61	V>G		No	ClinGen ExAC gnomAD
rs752824717 CA9597218	61	V>I		No	ClinGen ExAC TOPMed gnomAD
CA406997539 rs1215426262	63	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs991035882 CA309609644	64	E>A		No	ClinGen TOPMed gnomAD
rs749073832 CA9597221	65	T>S		No	ClinGen ExAC gnomAD
rs764377361 CA9597237	67	K>*		No	ClinGen ExAC gnomAD
CA406997736 rs77627679 CA9597238	68	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs778840829 CA9597241	69	A>S		No	ClinGen ExAC gnomAD
CA9597240 rs778840829	69	A>T		No	ClinGen ExAC gnomAD
CA9597242 rs757928903	69	A>V		No	ClinGen ExAC gnomAD
rs779372994 CA9597243	70	V>A		No	ClinGen ExAC gnomAD
rs574023163 CA309609658	70	V>L		No	ClinGen 1000Genomes
CA406997807 rs1175263968	71	V>A		No	ClinGen TOPMed
CA406997803 rs1416444033	71	V>I		No	ClinGen gnomAD
COSM1395480 rs147768888 CA9597246	72	V>M	Variant assessed as Somatic; 0.0001601 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA309609659 rs527587589 CA406997918	76	N>K		No	ClinGen 1000Genomes TOPMed gnomAD
CA9597248 rs771383380	76	N>S		No	ClinGen ExAC gnomAD
rs775004873 CA406997931 CA9597249	77	G>R	Variant assessed as Somatic; 5.283e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA9597250 rs775004873	77	G>W		No	ClinGen ExAC TOPMed gnomAD
rs1388004529 CA406997971	78	K>R		No	ClinGen gnomAD
rs1411102511 CA406997991	79	E>A		No	ClinGen gnomAD
rs376451430 CA9597253	80	L>F		No	ClinGen ESP ExAC gnomAD
rs369687162 CA9597256	84	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs369687162 CA406998118	84	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs879141159 CA309609662	85	T>A		No	ClinGen Ensembl
rs202201938 CA309609663	85	T>I		No	ClinGen TOPMed gnomAD
rs202201938 CA406998148	85	T>S		No	ClinGen TOPMed gnomAD
CA406998164 rs1354360341	86	I>L		No	ClinGen gnomAD
CA406998207 rs1273981696	87	K>R		No	ClinGen gnomAD
rs1482891573 CA406998240	88	W>*		No	ClinGen gnomAD
TCGA novel	92	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9597259 rs750385878	93	W>*		No	ClinGen ExAC gnomAD
rs1355677474 CA406998374	93	W>*		No	ClinGen TOPMed
CA9597260 rs758325031	94	L>Q		No	ClinGen ExAC gnomAD
CA406998412 rs1601280080	95	E>G		No	ClinGen Ensembl
CA406998402 rs780036020	95	E>K		No	ClinGen ExAC TOPMed gnomAD
CA9597261 rs780036020	95	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs751080048 CA9597262	97	G>D		No	ClinGen ExAC gnomAD
TCGA novel	99	K>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA406998513 rs1168054951	100	S>G		No	ClinGen TOPMed gnomAD
TCGA novel	100	S>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA406998538 rs1601280093	100	S>R		No	ClinGen Ensembl
CA406998564 rs747737851	102	A>D		No	ClinGen ExAC TOPMed gnomAD
COSM1395481 rs61731790 CA9597264	102	A>T	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs747737851 CA9597265	102	A>V		No	ClinGen ExAC TOPMed gnomAD
CA9597266 rs531319415	103	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs372672847 CA9597267	103	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA406998608 rs1328061056	104	F>L		No	ClinGen gnomAD
CA406998703 rs1270908165	108	E>K		No	ClinGen gnomAD
CA406998706 rs1270908165	108	E>Q		No	ClinGen gnomAD
CA9597269 rs374651536	110	H>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs374393571 CA309609665	112	S>F		No	ClinGen TOPMed
CA406998798 rs1203334759	112	S>P		No	ClinGen gnomAD
CA309609664 rs374393571	112	S>Y		No	ClinGen TOPMed
rs763244754 CA9597270	113	A>T		No	ClinGen ExAC gnomAD
CA406999075 rs1223928934	116	V>M		No	ClinGen TOPMed
CA309609720 rs199706842	117	Y>C		No	ClinGen 1000Genomes
CA309609721 COSM1325110 rs746899605	118	T>N	ovary [Cosmic]	No	ClinGen cosmic curated gnomAD
CA406999162 rs768681256	119	V>L		No	ClinGen ExAC TOPMed gnomAD
rs768681256 COSM1239509 CA9597303	119	V>M	Variant assessed as Somatic; 0.0 impact. oesophagus [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA9597305 rs747362625	121	L>M		No	ClinGen ExAC gnomAD
rs755548065 CA9597306	122	H>L		No	ClinGen ExAC TOPMed gnomAD
CA406999310 rs1189131907	124	G>E		No	ClinGen gnomAD
rs769824305 CA9597309	126	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1462991168 CA406999366	127	V>L		No	ClinGen gnomAD
rs928431098 CA406999381	128	L>V		No	ClinGen gnomAD
TCGA novel	130	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA406999412 rs1350570511	130	D>H		No	ClinGen gnomAD
COSM475082 rs375154247 CA9597310	131	R>C	kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA309609723 rs866081511 COSM86434	131	R>H	ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs375154247 CA406999439	131	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1052807483 CA309609724	132	G>E		No	ClinGen TOPMed gnomAD
TCGA novel	132	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9597312 rs369957056	135	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs373378823 CA9597313	135	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9597314 rs373378823	135	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9597318 rs763596400	137	E>D		No	ClinGen ExAC TOPMed gnomAD
CA9597317 rs760296908	137	E>K		No	ClinGen ExAC gnomAD
CA9597319 rs753448205	139	K>E		No	ClinGen ExAC gnomAD
rs1250839955 CA406999666	139	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA406999751 rs1568657489	142	D>E		No	ClinGen Ensembl
rs1281422023 CA406999767	143	T>I		No	ClinGen gnomAD
TCGA novel	144	C>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs889369634 CA309609726	146	S>R		No	ClinGen Ensembl
TCGA novel	147	C>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9597321 rs764794280	150	N>D		No	ClinGen ExAC gnomAD
rs764794280 CA406999923	150	N>H		No	ClinGen ExAC gnomAD
rs369226947 CA9597322	150	N>S		No	ClinGen ESP ExAC gnomAD
CA406999946 rs1007765893	151	I>F		No	ClinGen TOPMed
rs1007765893 CA309609727	151	I>V		No	ClinGen TOPMed
CA406999988 rs1162839559	152	D>E		No	ClinGen gnomAD
CA9597325 rs148042918	152	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA407000011 rs756159592	154	E>*		No	ClinGen ExAC gnomAD
rs756159592 CA9597326	154	E>K		No	ClinGen ExAC gnomAD
rs1310193682 CA407000850	156	P>L		No	ClinGen gnomAD
CA9597344 rs201632456	157	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs753996160 CA9597346	157	R>H		No	ClinGen ExAC TOPMed gnomAD
CA407000863 rs753996160	157	R>L		No	ClinGen ExAC TOPMed gnomAD
rs753996160 CA9597345	157	R>P		No	ClinGen ExAC TOPMed gnomAD
CA407000883 rs1187936744	159	D>N		No	ClinGen gnomAD
TCGA novel	164	S>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA407000948 rs1455781734	164	S>R		No	ClinGen TOPMed gnomAD
rs1246245820 CA407000943	164	S>T		No	ClinGen gnomAD
rs1173357687 CA407000958	166	E>K		No	ClinGen gnomAD
rs746024264 CA9597349	167	S>G		No	ClinGen ExAC TOPMed gnomAD
CA407000974 rs1568657843	167	S>T		No	ClinGen Ensembl
rs1413086135 CA407000994	168	F>L		No	ClinGen gnomAD
CA9597350 rs772008754	169	K>R		No	ClinGen ExAC gnomAD
CA309609813 rs369947013	170	R>C		No	ClinGen ESP TOPMed gnomAD
CA9597352 COSM999721 rs138764172	170	R>H	large_intestine endometrium [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs138764172 CA407001018	170	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA309609812 rs369947013	170	R>S		No	ClinGen ESP TOPMed gnomAD
rs61731791 CA9597353	171	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1450157937 CA407001092	172	S>N		No	ClinGen gnomAD
rs992423250 CA407001163	175	K>N		No	ClinGen TOPMed gnomAD
rs772774458 CA407001177	176	S>*		No	ClinGen ExAC TOPMed gnomAD
rs772774458 CA9597374	176	S>L		No	ClinGen ExAC TOPMed gnomAD
CA9597373 rs769705981	176	S>T		No	ClinGen ExAC gnomAD
rs201771041 CA9597376	177	D>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs201771041 CA407001185	177	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA407001197 rs1162187306	177	D>V		No	ClinGen gnomAD
CA9597377 rs35209148	179	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9597378 rs35209148	179	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA309609824 rs543334253	182	L>Q		No	ClinGen 1000Genomes
CA407001287 rs1344924433	183	D>G		No	ClinGen TOPMed
CA9597382 rs142031260	185	S>G		No	ClinGen 1000Genomes ExAC gnomAD
rs750573077 CA9597383	185	S>T		No	ClinGen ExAC gnomAD
rs1341053794 CA407001350	186	G>V		No	ClinGen gnomAD
CA9597384 rs368278760	188	L>S		No	ClinGen ESP ExAC TOPMed
rs568422087	191	R>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs1283716154 CA407001426	191	R>K		No	ClinGen gnomAD
CA407002355 rs1435703418	192	E>Q		No	ClinGen gnomAD
CA407002393 rs1433226993	193	V>A		No	ClinGen gnomAD
rs1433226993 CA407002396	193	V>E		No	ClinGen gnomAD
CA9597418 rs748547610	193	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1008969252 CA309610265	194	V>M		No	ClinGen Ensembl
CA309610266 rs770244457	195	E>K		No	ClinGen ExAC gnomAD
rs770244457 CA9597419	195	E>Q		No	ClinGen ExAC gnomAD
CA9597421 rs773860200	197	E>K		No	ClinGen ExAC
rs1331930686 CA407002543	198	K>E		No	ClinGen gnomAD
rs746241893 CA309610269	205	D>N		No	ClinGen gnomAD
CA9597423 rs771464414	206	D>N		No	ClinGen ExAC TOPMed gnomAD
CA309610271 rs867680710	207	D>N		No	ClinGen Ensembl
CA9597424 rs774332668	208	L>P		No	ClinGen ExAC gnomAD
CA9597425 rs759636978	209	G>R		No	ClinGen ExAC TOPMed gnomAD
CA407002824 rs1457739981	211	P>S		No	ClinGen TOPMed gnomAD
rs200355496 CA9597428	212	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA407002852 rs200355496	212	P>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1177894810	212	P>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9597429 rs200355496	212	P>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs143152934 CA9597427	212	P>S		No	ClinGen 1000Genomes ExAC gnomAD
CA407002920 rs1295522138	215	W>*		No	ClinGen gnomAD
CA407002929 rs1267247829	215	W>*		No	ClinGen TOPMed
rs752245517 CA309610280	217	L>F		No	ClinGen gnomAD
rs778882369 CA9597433 CA9597432	219	K>N		No	ClinGen ExAC TOPMed gnomAD
CA407003032 rs779606584	221	A>P		No	ClinGen ExAC gnomAD
CA9597435 rs779606584	221	A>T		No	ClinGen ExAC gnomAD
rs1229573782 CA407003043	221	A>V		No	ClinGen gnomAD
CA9597436 rs746593617	222	K>N		No	ClinGen ExAC gnomAD
CA407003101 rs1317452264	224	S>N		No	ClinGen TOPMed
CA407003107 rs770297664	224	S>R		No	ClinGen ExAC TOPMed gnomAD
rs373667941 CA9597438	225	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs80199747 CA309610285	226	Y>*		No	ClinGen ExAC TOPMed gnomAD
CA309610284 rs1053540193	226	Y>F		No	ClinGen TOPMed
CA407003158 rs1487990665	227	E>K		No	ClinGen gnomAD
CA309610287 rs377670684	230	A>T		No	ClinGen ESP TOPMed gnomAD
rs1472766008 CA407003253	231	F>L		No	ClinGen gnomAD
rs1181375940 CA407003268	233	Y>C		No	ClinGen TOPMed gnomAD
rs1323974595 CA407003265	233	Y>H		No	ClinGen gnomAD
CA407003274 rs1425474848	234	G>D		No	ClinGen gnomAD
CA9597440 rs371011432	234	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	235	I>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs201910994 RCV001007863 CA309610290	236	T>I		No	ClinGen ClinVar Ensembl dbSNP
CA9597443 rs772120671	237	D>E		No	ClinGen ExAC gnomAD
CA309610292 rs1053626459	237	D>N		No	ClinGen TOPMed gnomAD
TCGA novel	238	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs753803043 CA309610294	238	L>I		No	ClinGen Ensembl
rs568769632 CA9597444	239	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs761707168 CA309610295	239	R>W		No	ClinGen TOPMed gnomAD
CA407003305 rs1230521494	240	G>C		No	ClinGen TOPMed gnomAD
CA407003304 rs1230521494	240	G>R		No	ClinGen TOPMed gnomAD
rs1448195045 CA407003314	241	M>R		No	ClinGen gnomAD
CA407003310 rs1269563556	241	M>V		No	ClinGen TOPMed
CA9597446 rs764300558	242	L>M		No	ClinGen ExAC gnomAD
CA9597448 rs546012970	244	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9597447 rs374005339	244	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1483269734 CA407003339	246	K>E		No	ClinGen gnomAD
CA407003359 rs1220659625	248	A>V		No	ClinGen TOPMed
rs1204253601 CA407003370	250	V>L		No	ClinGen gnomAD
rs138666670 CA9597451	251	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs757850915 CA9597452	252	V>L		No	ClinGen ExAC gnomAD
CA407003390 rs1197416815	253	K>R		No	ClinGen Ensembl
CA407003401 rs1414656992	254	K>N		No	ClinGen gnomAD
rs377503167 CA407003405	255	S>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA9597454 rs377503167	255	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs377503167 RCV001007864 CA9597453	255	S>T		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA9597455 rs754717085	256	A>S		No	ClinGen ExAC gnomAD
rs752324273 CA407003856	259	T>A		No	ClinGen ExAC gnomAD
rs752324273 CA9597475	259	T>P		No	ClinGen ExAC gnomAD
rs779390330 CA9597477	260	K>T		No	ClinGen ExAC gnomAD
CA9597478 rs537589718	267	Q>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1351316366 CA407004186	270	R>S		No	ClinGen gnomAD
TCGA novel	271	G>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1274069159 CA407004230	272	N>I		No	ClinGen gnomAD
rs780521698 CA9597480	275	K>T		No	ClinGen ExAC gnomAD
rs747117428 CA9597481	276	L>*		No	ClinGen ExAC gnomAD
rs35951152 VAR_056060 CA9597483	282	D>N		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs748345914 CA9597484	283	P>L		No	ClinGen ExAC gnomAD
CA9597488 rs535663728	284	D>G		No	ClinGen 1000Genomes ExAC gnomAD
rs762632665 CA9597489	287	L>F		No	ClinGen ExAC TOPMed gnomAD
CA9597490 rs766442156	288	K>R		No	ClinGen ExAC TOPMed gnomAD
rs774391165 CA9597491	291	K>N		No	ClinGen ExAC TOPMed gnomAD
rs1489950647 CA407004955	291	K>R		No	ClinGen gnomAD
rs759118180 CA407005017	292	N>K		No	ClinGen ExAC TOPMed gnomAD
CA407005033 rs767073991	293	G>C		No	ClinGen ExAC TOPMed gnomAD
rs767073991 CA9597493	293	G>S		No	ClinGen ExAC TOPMed gnomAD
CA407005044 rs1327929603	293	G>V		No	ClinGen Ensembl
CA407005090 rs754411668	295	E>*		No	ClinGen gnomAD
CA309610501 rs754411668	295	E>Q		No	ClinGen gnomAD
rs752133655 CA9597494	298	P>S		No	ClinGen ExAC TOPMed gnomAD
CA9597495 rs371957669	299	S>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1322406568 CA407005227	300	S>T		No	ClinGen gnomAD
rs1398559615 CA407005239	301	K>Q		No	ClinGen TOPMed
CA407005556 rs1306530857	303	V>A		No	ClinGen TOPMed
rs756106442 CA9597521	303	V>M	Variant assessed as Somatic; 0.0001861 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs866329567 CA309610701	305	E>K		No	ClinGen TOPMed gnomAD
rs866329567 CA309610702	305	E>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA407005611 rs1174261787	306	N>D		No	ClinGen gnomAD
CA309610703 rs557897122	306	N>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA309610704 rs976232072 RCV001007820	307	V>A		No	ClinGen ClinVar TOPMed dbSNP gnomAD
CA9597523 COSM287321 rs749460100	307	V>I	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs778915860 CA9597525	308	G>A		No	ClinGen ExAC gnomAD
CA407005668 rs1380645768	308	G>S		No	ClinGen TOPMed gnomAD
TCGA novel	310	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs772188435 CA9597527	311	R>*		No	ClinGen ExAC TOPMed gnomAD
rs759144655 CA9597528	311	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA309610707 rs767028082	313	L>F		No	ClinGen TOPMed
CA9597529 rs112900024	314	T>A		No	ClinGen ExAC TOPMed gnomAD
rs112900024 CA407005797	314	T>P		No	ClinGen ExAC TOPMed gnomAD
CA9597531 rs776360756	315	I>T		No	ClinGen ExAC TOPMed gnomAD
rs1183718362 CA407005905	317	K>*		No	ClinGen TOPMed
rs761512115 CA9597532	319	T>M		No	ClinGen ExAC TOPMed gnomAD
rs751962561 CA9597534 COSM1395485	321	A>V	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs909280196 CA309610712	322	D>G		No	ClinGen TOPMed gnomAD
CA407006023 rs1200821109 COSM1481367	323	D>N	Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs1200821109 CA407006026	323	D>Y		No	ClinGen TOPMed gnomAD
rs1480096388 CA407006059	324	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA9597537 rs753078335	326	Y>*		No	ClinGen ExAC gnomAD
CA407006112 rs1404041158	326	Y>C		No	ClinGen TOPMed gnomAD
CA407006104 rs1174118352	326	Y>H		No	ClinGen gnomAD
CA309610715 rs867243592	327	E>K		No	ClinGen Ensembl
rs1321479443 CA407007006	328	V>I		No	ClinGen gnomAD
rs1321479443 CA407007009	328	V>L		No	ClinGen gnomAD
rs1380737700 CA407007041	329	A>G		No	ClinGen gnomAD
rs756230619 CA9597538	329	A>T		No	ClinGen ExAC gnomAD
rs1331993997 CA407007089	331	K>N		No	ClinGen gnomAD
CA407007150 rs1223476853	333	E>D		No	ClinGen gnomAD
CA9597541 rs374273613	335	C>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs200354060 CA309610719	335	C>W		No	ClinGen gnomAD
CA407007214 rs1330620883	335	C>Y		No	ClinGen gnomAD
TCGA novel	336	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs779252873 CA9597544	338	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs745683077 CA407007300	339	L>H		No	ClinGen ExAC TOPMed gnomAD
rs1390374451 CA407007293	339	L>I		No	ClinGen TOPMed
CA9597545 rs745683077	339	L>P		No	ClinGen ExAC TOPMed gnomAD
CA309610722 rs745683077	339	L>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel rs780048309 CA407007317	340	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC TOPMed gnomAD NCI-TCGA
CA9597549 rs768624506	341	V>A		No	ClinGen ExAC gnomAD
CA9597548 rs58511181 VAR_061322	341	V>I		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1010484699 CA309610726	342	K>R		No	ClinGen TOPMed gnomAD
CA9597567 rs754912829	344	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1370541216 CA407007466	344	P>T		No	ClinGen TOPMed gnomAD
CA407007575 rs1568660781	349	V>D		No	ClinGen Ensembl
rs377450077 CA9597570	354	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA309610741 rs950502104	355	Q>*		No	ClinGen TOPMed
CA309610744 rs964936728	360	G>D		No	ClinGen Ensembl
CA407007818 rs1218502544	360	G>S		No	ClinGen gnomAD
rs770608151 CA9597575	362	R>L		No	ClinGen ExAC TOPMed gnomAD
rs770608151 CA407007853	362	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA9597574 rs201433983 COSM1494339	362	R>W	kidney [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC gnomAD
rs775754598 CA9597576	363	V>G		No	ClinGen ExAC gnomAD
rs1568660823 CA407007871	363	V>L		No	ClinGen Ensembl
rs1484186858 CA407007908	364	E>D		No	ClinGen gnomAD
CA407007920 rs1183742375	365	M>V		No	ClinGen TOPMed gnomAD
rs761075304 CA9597578	366	A>T		No	ClinGen ExAC gnomAD
rs75028924 CA407008020	369	V>E		No	ClinGen gnomAD
rs75028924 CA309610747	369	V>G		No	ClinGen gnomAD
CA407008012 rs1181929110	369	V>L		No	ClinGen gnomAD
CA407008014 rs1181929110	369	V>M		No	ClinGen gnomAD
rs1030536853 CA309610749	370	S>*		No	ClinGen TOPMed
CA309610751 rs950918476	372	E>D		No	ClinGen Ensembl
CA9597579 rs764718000	373	G>C		No	ClinGen ExAC gnomAD
CA9597580 rs552817311	373	G>D		No	ClinGen 1000Genomes ExAC gnomAD
CA9597581 rs761992019	374	A>V		No	ClinGen ExAC gnomAD
CA9597582 rs765354092	376	V>M		No	ClinGen ExAC gnomAD
rs764585595 CA9597583	377	M>I		No	ClinGen ExAC gnomAD
CA407008191 rs1336863334	377	M>V		No	ClinGen TOPMed gnomAD
CA309611168 rs1036478981	378	W>C		No	ClinGen TOPMed
CA407009346 rs1221821423	384	E>*		No	ClinGen gnomAD
TCGA novel	384	E>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1270087339 CA407009358	384	E>D		No	ClinGen gnomAD
CA407009363 rs1447839358	385	L>R		No	ClinGen TOPMed gnomAD
CA9597600 rs182676965	387	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9597601 rs35449474	387	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs182676965 CA9597599	387	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1404986859 CA407009411	389	D>N		No	ClinGen TOPMed
CA9597603 rs763068015	391	F>L		No	ClinGen ExAC gnomAD
CA309611175 rs912622661	391	F>L		No	ClinGen gnomAD
CA407009483 rs1601286924	392	K>R		No	ClinGen Ensembl
CA9597605 rs372256711	393	A>V		No	ClinGen 1000Genomes ExAC gnomAD
rs370450869 CA309611180	394	R>Q		No	ClinGen ESP TOPMed gnomAD
CA9597606 rs200673695	394	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9597607 rs375353182	396	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs752484451 CA9597608	396	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA407009555 rs752484451	396	R>L		No	ClinGen ExAC TOPMed gnomAD
CA407009597 rs1568661772	398	K>N		No	ClinGen Ensembl
rs34822663 CA9597609	400	D>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs753307291 CA9597611	401	G>R		No	ClinGen ExAC TOPMed gnomAD
CA9597612 rs372880371 COSM1395486	403	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA9597613 rs1438592417 COSM999726	403	R>H	Variant assessed as Somatic; 0.0001407 impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs778436739 CA9597615	405	I>V		No	ClinGen ExAC gnomAD
CA9597616 rs745471174	406	L>F		No	ClinGen ExAC TOPMed gnomAD
CA9597617 rs374672601	407	I>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA9597618 rs374672601	407	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA9597619 rs748492656	409	S>P		No	ClinGen ExAC TOPMed gnomAD
rs1441099173 CA407009826	411	V>L		No	ClinGen TOPMed
TCGA novel	411	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA407009852 rs1156456682	413	Q>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA9597621 rs559226067	416	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9597622 rs762944203	417	G>V		No	ClinGen ExAC gnomAD
CA309611189 rs1054967618	418	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1162739377 CA407009954	418	R>H		No	ClinGen TOPMed gnomAD
CA9597623 rs770984074	419	Y>*		No	ClinGen ExAC gnomAD
CA407009958 rs1363459260	419	Y>H		No	ClinGen gnomAD
CA9597624 rs774281402	421	V>I		No	ClinGen ExAC gnomAD
rs767690816 CA9597626	423	T>I		No	ClinGen ExAC gnomAD
rs368424628 CA9597627	424	N>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs371649646 CA407010048	424	N>K		No	ClinGen ESP ExAC gnomAD
CA407010039 rs1385313536	424	N>S		No	ClinGen gnomAD
rs1409920372 CA407010060	425	G>V		No	ClinGen TOPMed
rs202217309 CA9597630	426	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9597631 rs369372927	428	C>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs1244407486 CA407010189	431	E>A		No	ClinGen gnomAD
CA9597634 rs77280515	431	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs77280515 CA9597635	431	E>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1444914945 CA407010235	433	I>T		No	ClinGen gnomAD
rs889034316 CA309611513 CA407010782	436	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA9597656 rs749580447	438	Q>*		No	ClinGen ExAC gnomAD
rs779238329 CA9597658	440	E>*		No	ClinGen ExAC gnomAD
TCGA novel	440	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9597660 rs772070683	440	E>G		No	ClinGen ExAC TOPMed gnomAD
rs779238329 COSM166330 CA9597659	440	E>K	breast [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1601288424 CA407010812	441	V>G		No	ClinGen Ensembl
CA9597661 rs775704709	441	V>L		No	ClinGen ExAC gnomAD
CA9597662 rs747290974	442	L>P		No	ClinGen ExAC gnomAD
rs776530736 CA9597664	445	I>T		No	ClinGen ExAC TOPMed gnomAD
rs768757534 CA9597663	445	I>V		No	ClinGen ExAC gnomAD
CA9597666 rs35326141	446	A>T		No	ClinGen ExAC TOPMed gnomAD
rs767772759 CA9597667	446	A>V		No	ClinGen ExAC TOPMed gnomAD
rs933681654 CA309611515	448	L>P		No	ClinGen TOPMed
CA407010855 rs1332699561	449	T>A		No	ClinGen TOPMed
CA9597669 rs530999109	449	T>M		No	ClinGen ExAC TOPMed gnomAD
CA9597672 rs767050521	450	V>A		No	ClinGen ExAC TOPMed gnomAD
rs759269062 CA9597671	450	V>M		No	ClinGen ExAC gnomAD
rs186081920 CA9597674	452	A>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs186081920 CA9597673	452	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	453	S>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1026078964 CA309611518	456	A>V		No	ClinGen TOPMed gnomAD
CA407010930 rs373913738	460	C>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA9597678 rs377132992	461	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA9597680 rs768971834	462	V>L		No	ClinGen ExAC TOPMed gnomAD
CA9597681 rs768971834	462	V>M		No	ClinGen ExAC TOPMed gnomAD
COSM349639 rs1441429681 CA407010946	463	S>C	lung [Cosmic]	No	ClinGen cosmic curated TOPMed
rs748010365 CA9597682	463	S>T		No	ClinGen ExAC gnomAD
CA9597684 rs200330284	464	D>G		No	ClinGen 1000Genomes ExAC gnomAD
CA407010955 rs1199891898	465	E>K		No	ClinGen TOPMed
CA407010971 rs1475348974	467	V>M		No	ClinGen gnomAD
CA9597687 rs376709743	468	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1353528402 CA407010985	469	G>D		No	ClinGen TOPMed
CA407010989 rs1420887737	470	K>E		No	ClinGen TOPMed gnomAD
rs202179599 CA309611520	471	W>*		No	ClinGen 1000Genomes TOPMed
rs34373957 CA9597690	471	W>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs34373957 CA9597689	471	W>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA9597691 rs752223695	472	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs1394879768 CA407011003	472	Y>H		No	ClinGen TOPMed
rs1601288582 CA407011017	474	N>H		No	ClinGen Ensembl
CA9597692 rs762250116	476	V>A		No	ClinGen ExAC TOPMed gnomAD
CA407011034 rs762250116	476	V>D		No	ClinGen ExAC TOPMed gnomAD
rs144074433 CA9597694	477	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
rs1301768542 CA407011043	478	V>M		No	ClinGen gnomAD
rs367620888 CA9597697	479	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs34714441 CA9597696	479	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9597698 rs754976911	480	P>S		No	ClinGen ExAC TOPMed gnomAD
CA9597699 rs781483688	481	S>R		No	ClinGen ExAC gnomAD
TCGA novel	482	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs748263073 CA9597700	482	K>R		No	ClinGen ExAC gnomAD
CA9597701 rs371707780	483	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs777747812 CA9597702	484	I>T		No	ClinGen ExAC TOPMed gnomAD
rs749066609 CA9597703	485	T>I		No	ClinGen ExAC gnomAD
CA9597704 rs771011091	486	I>T		No	ClinGen ExAC gnomAD
rs1252942385 CA407011089	486	I>V		No	ClinGen TOPMed gnomAD
CA407011104 rs1191831758	488	H>R		No	ClinGen TOPMed
CA9597706 rs34051416	489	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA309611525 rs557415605	490	G>D		No	ClinGen TOPMed
rs1213925257 CA407012102	491	R>S		No	ClinGen gnomAD
CA407012205 rs867065161	498	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA309611873 rs867065161	498	D>Y		No	ClinGen TOPMed gnomAD
CA309611875 rs973574986	500	V>I		No	ClinGen TOPMed gnomAD
CA9597735 rs573422660	501	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1481702885 CA407012297	501	R>H		No	ClinGen TOPMed gnomAD
rs1481702885 CA407012300	501	R>P		No	ClinGen TOPMed gnomAD
rs768043688 CA9597736	502	P>S		No	ClinGen ExAC TOPMed gnomAD
rs768043688 CA407012306	502	P>T		No	ClinGen ExAC TOPMed gnomAD
CA9597739 rs764415750	503	E>K		No	ClinGen ExAC TOPMed gnomAD
CA9597740 rs372982909	504	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA9597741 rs757537853	506	G>*		No	ClinGen ExAC gnomAD
rs1296113672 CA407012402	507	D>G		No	ClinGen TOPMed gnomAD
rs1429841850 CA407012397	507	D>N		No	ClinGen TOPMed gnomAD
CA407012423 rs1347369813	508	Y>F		No	ClinGen gnomAD
rs778638767 CA9597743	509	T>M		No	ClinGen ExAC TOPMed gnomAD
rs1318233710 CA407012464	511	V>L		No	ClinGen TOPMed
rs776156083 CA9597744	513	D>A		No	ClinGen ExAC gnomAD
rs8104931 CA9597746 VAR_056061	514	G>S		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA407012543 rs576965743 CA309611885	515	Y>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA407012553 rs1215602425	516	A>T		No	ClinGen gnomAD
rs1200732906 CA407012588	518	S>L		No	ClinGen gnomAD
rs760771137 CA309611888	520	S>*		No	ClinGen ExAC TOPMed gnomAD
rs760771137 CA9597748	520	S>L		No	ClinGen ExAC TOPMed gnomAD
CA407012647 rs1408351786	522	K>R		No	ClinGen gnomAD
CA407012658 rs1399729991	523	L>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA309611890 rs1014836875	524	N>S		No	ClinGen TOPMed gnomAD
CA9597751 rs769454145	525	F>L		No	ClinGen ExAC TOPMed gnomAD
rs371356913 CA309611970	530	V>M		No	ClinGen ESP TOPMed gnomAD
rs780750776 CA407012926	532	Y>*		No	ClinGen ExAC TOPMed gnomAD
CA9597770 rs769352237	533	V>D		No	ClinGen ExAC gnomAD
CA9597769 rs747632658	533	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1352388816	537	E>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA406968184 rs1219611336	538	P>A		No	ClinGen TOPMed
rs763304244 CA406968193	538	P>L		No	ClinGen ExAC TOPMed gnomAD
rs763304244 CA9597800	538	P>Q		No	ClinGen ExAC TOPMed gnomAD
rs1356265940 CA406968286	542	H>L		No	ClinGen gnomAD
rs1487282486 CA406968314	543	L>S		No	ClinGen TOPMed gnomAD
rs1201455724 CA406968373	545	C>F		No	ClinGen gnomAD
CA406968405 rs1271151453	546	S>L		No	ClinGen TOPMed gnomAD
CA406968413 rs1198228852	547	G>R		No	ClinGen TOPMed gnomAD
CA9597804 rs767443293	548	K>N		No	ClinGen ExAC TOPMed gnomAD
rs199625688 CA9597805	551	E>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs11879768 CA406968577	553	A>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1468002854 CA406968565	553	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs11879768 CA9597806	553	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs753254072 CA9597808	554	I>F		No	ClinGen ExAC gnomAD
CA406968601 rs1366719157	554	I>T		No	ClinGen gnomAD
TCGA novel	555	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA406968660 rs1385800713	557	V>M		No	ClinGen gnomAD
rs756981758 CA9597809	558	A>G		No	ClinGen ExAC TOPMed
rs747411176 CA9597811	560	N>K		No	ClinGen ExAC gnomAD
rs755327210 CA9597812	563	R>K		No	ClinGen ExAC TOPMed gnomAD
CA9597814 rs748750674	564	L>F		No	ClinGen ExAC gnomAD
CA9597815 rs770202586	564	L>P		No	ClinGen ExAC TOPMed gnomAD
rs773384609 CA9597816	565	D>H		No	ClinGen ExAC gnomAD
TCGA novel	566	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs998531091 CA406968857	568	I>N		No	ClinGen TOPMed gnomAD
rs998531091 CA309596588	568	I>S		No	ClinGen TOPMed gnomAD
CA309596602 rs939855481	571	E>*		No	ClinGen gnomAD
CA309596619 rs767380135	571	E>A		No	ClinGen Ensembl
rs767380135 CA309596610	571	E>G		No	ClinGen Ensembl
rs1031404787 CA309596631	572	P>A		No	ClinGen TOPMed
rs919686251 CA406968928	572	P>H		No	ClinGen TOPMed gnomAD
CA309596636 rs919686251	572	P>L		No	ClinGen TOPMed gnomAD
rs1477783157	573	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1482275387 CA406968961	574	P>H		No	ClinGen TOPMed
rs774485875 COSM1216042 CA9597819	575	V>I	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1291312641 CA406968989	576	A>P		No	ClinGen TOPMed gnomAD
rs1291312641 CA406968987	576	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA309596648 rs201147014	577	T>P		No	ClinGen Ensembl
CA9597821 rs767357459	578	W>*		No	ClinGen ExAC gnomAD
TCGA novel	580	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA406969073 rs1366399547	580	K>T		No	ClinGen TOPMed
TCGA novel	581	G>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs539054221 CA9597838	586	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA9597841 rs377510163	589	E>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs1468830105 CA406970559	589	E>A		No	ClinGen gnomAD
rs377510163 CA9597842	589	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA9597843 rs761422218	590	G>D		No	ClinGen ExAC TOPMed gnomAD
CA406970578 rs761422218	590	G>V		No	ClinGen ExAC TOPMed gnomAD
rs1358376704 CA406970609	592	T>I		No	ClinGen gnomAD
rs1601292720 CA406970602	592	T>P		No	ClinGen Ensembl
CA9597844 rs764899885	593	R>C		No	ClinGen ExAC TOPMed gnomAD
CA406970618 rs764899885	593	R>G		No	ClinGen ExAC TOPMed gnomAD
rs371015595 CA9597845	593	R>H		No	ClinGen 1000Genomes ESP TOPMed gnomAD
rs371015595 CA9597846	593	R>L		No	ClinGen 1000Genomes ESP TOPMed gnomAD
CA406970616 rs764899885	593	R>S		No	ClinGen ExAC TOPMed gnomAD
CA9597849 rs201949605	594	I>T		No	ClinGen 1000Genomes ExAC gnomAD
CA9597848 rs749951775	594	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1277678441 CA406970645	595	E>K		No	ClinGen gnomAD
CA9597852 rs201601026	597	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9597851 rs753131691	597	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1601292762 CA406970700	598	V>G		No	ClinGen Ensembl
TCGA novel	600	C>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9597853 rs778353114	601	S>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	603	F>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA406970809 rs1216476256	605	I>M		No	ClinGen gnomAD
CA9597855 rs377730971	605	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs779002376 CA9597856	607	S>G		No	ClinGen ExAC gnomAD
rs369339958 CA9597857	607	S>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs371496229 CA309598129	608	A>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs371496229 COSM3672987 CA9597858	608	A>V	Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs1431072390 CA406970862	609	Q>E		No	ClinGen TOPMed gnomAD
rs776474805 CA9597862	609	Q>H		No	ClinGen ExAC gnomAD
rs768279495 CA9597861	609	Q>R		No	ClinGen ExAC gnomAD
CA9597864 rs373805656	610	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs541232218 CA9597863	610	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9597866 rs762507182	613	E>K		No	ClinGen ExAC TOPMed gnomAD
rs766056042 CA9597867	615	R>C		No	ClinGen ExAC TOPMed gnomAD
CA9597868 rs200981817	615	R>H		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	615	R>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1311962030 CA406970975	616	Y>C		No	ClinGen gnomAD
CA406970970 rs759211527	616	Y>D		No	ClinGen ExAC TOPMed gnomAD
CA9597869 rs759211527	616	Y>H		No	ClinGen ExAC TOPMed gnomAD
CA406970987 rs1453177458	617	T>A		No	ClinGen TOPMed
rs1354786180 CA406970994	617	T>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA309598168 rs372450882	618	I>N		No	ClinGen TOPMed
rs372450882 CA309598180	618	I>T		No	ClinGen TOPMed
rs1029262459 CA309598163	618	I>V		No	ClinGen TOPMed
CA406971066 rs1284579421 COSM440049	622	N>K	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA9597870 rs764430761	623	P>T		No	ClinGen ExAC TOPMed gnomAD
rs25665 CA9597872 VAR_014658	624	V>I		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA9597874 rs201834413	625	G>S		No	ClinGen ExAC TOPMed gnomAD
rs747255135 CA9597877	626	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs780892799 CA9597879	627	D>V		No	ClinGen ExAC gnomAD
CA9597881 rs769879583	628	V>G		No	ClinGen ExAC TOPMed gnomAD
CA406971151 CA406971149 rs747936523	628	V>L		No	ClinGen ExAC TOPMed gnomAD
rs747936523 CA9597880	628	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs35215508 CA9597882	629	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1333546463 CA406971173	630	S>P		No	ClinGen gnomAD
rs1601292897 CA406971185	631	I>L		No	ClinGen Ensembl
TCGA novel	634	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA406971240 rs1239962715	634	Q>H		No	ClinGen gnomAD
CA9597883 rs543089529	634	Q>R		No	ClinGen 1000Genomes ExAC gnomAD
CA9597884 rs374274083	636	V>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA406971328 rs1488937241	637	D>V		No	ClinGen TOPMed
CA406971340 rs755206108	638	V>F		No	ClinGen ExAC TOPMed gnomAD
rs755206108 CA9597896	638	V>I		No	ClinGen ExAC TOPMed gnomAD
rs781519827 CA9597897	639	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs747991496 CA309598287	641	P>A		No	ClinGen ExAC gnomAD
rs747991496 CA9597899	641	P>S		No	ClinGen ExAC gnomAD
CA9597900 rs755911926	642	P>L		No	ClinGen ExAC TOPMed gnomAD
rs752111099	642	P>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs755911926 CA9597901	642	P>R		No	ClinGen ExAC TOPMed gnomAD
CA406971408 rs1442732522	643	E>K		No	ClinGen gnomAD
rs200513674 CA9597903	644	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA406971450 rs1358212056	645	V>A		No	ClinGen TOPMed
CA406971445 rs1358212056	645	V>E		No	ClinGen TOPMed
rs764900042 CA9597904	646	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs369218733 CA9597906	648	T>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA9597907 rs775056269 COSM999730	649	S>L	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1404598232 CA406971533	651	G>V		No	ClinGen gnomAD
rs1601293004 CA406971599	656	I>N		No	ClinGen Ensembl
rs1333882331 CA406971594	656	I>V		No	ClinGen gnomAD
CA309598315 rs887027075	657	L>F		No	ClinGen TOPMed
rs770202283 CA9597909	658	V>L		No	ClinGen ExAC TOPMed gnomAD
CA9597910 COSM3537239 rs201432361	659	W>*	ovary [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs1167767316 COSM3537239 CA406971645	659	W>*	ovary [Cosmic]	No	ClinGen cosmic curated TOPMed
CA406971675 rs1478336114	661	P>Q		No	ClinGen TOPMed
CA406971687 rs1426475855	662	P>L		No	ClinGen TOPMed
rs150466277 CA9597912	663	M>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9597911 rs763411227	663	M>V		No	ClinGen ExAC
CA406971721 rs25666	664	Y>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs753022510 CA9597917	665	D>E		No	ClinGen ExAC gnomAD
CA9597915 rs759624690	665	D>H		No	ClinGen ExAC TOPMed gnomAD
rs759624690 CA9597914	665	D>N		No	ClinGen ExAC TOPMed gnomAD
CA406971754 rs777749471	666	G>A		No	ClinGen ExAC TOPMed gnomAD
COSM567469 CA9597919 rs777749471	666	G>E	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA9597918 rs756397342	666	G>R		No	ClinGen ExAC gnomAD
CA406971750 rs756397342	666	G>W		No	ClinGen ExAC gnomAD
CA406971777 rs1171033679	668	K>E		No	ClinGen Ensembl
rs569293426 CA9597921	668	K>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs569293426 CA9597922	668	K>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1221538941 CA406971803	669	P>L		No	ClinGen TOPMed
CA309598360 rs1009629209	671	T>I		No	ClinGen gnomAD
rs979903174 CA309598865	672	G>E		No	ClinGen Ensembl
rs1447632983 CA406971835 COSM395096	672	G>R	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
CA406971978 rs1447293867 CA406971977	673	Y>*		No	ClinGen gnomAD
CA309598874 rs992413332 COSM1727981	675	V>A	liver [Cosmic]	No	ClinGen cosmic curated Ensembl
CA9597953 rs373621760	675	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	675	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9597955 COSM2754731 rs771101541	677	R>Q	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
COSM1637961 rs746502452 CA9597954	677	R>W	Variant assessed as Somatic; 0.0 impact. bone [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA406972069 rs1568665941	678	K>N		No	ClinGen Ensembl
rs974007498 CA309598880	681	G>C		No	ClinGen TOPMed gnomAD
CA406972129 rs974007498	681	G>S		No	ClinGen TOPMed gnomAD
rs768322627 CA9597958	682	S>C		No	ClinGen ExAC gnomAD
rs768322627 CA9597957	682	S>F		No	ClinGen ExAC gnomAD
rs1357075439 CA406972151	682	S>P		No	ClinGen gnomAD
CA9597959 rs553635696	684	R>C		No	ClinGen 1000Genomes ExAC gnomAD
CA9597960 rs200887632	684	R>H		No	ClinGen ExAC gnomAD
CA406972222 rs200887632	684	R>L		No	ClinGen ExAC gnomAD
CA9597961 rs774570759	685	W>*		No	ClinGen ExAC TOPMed gnomAD
rs1167454131 CA406972265	686	M>I		No	ClinGen gnomAD
rs370415039 CA9597962	686	M>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs370415039 CA406972254	686	M>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA406972282 rs1390251664	687	K>M		No	ClinGen TOPMed
CA309598925 rs867994325	690	F>L		No	ClinGen Ensembl
rs374374728 CA9597965	691	E>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs374374728 CA9597964	691	E>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs1283210998 CA406972530	697	T>I		No	ClinGen Ensembl
CA9597967 rs776854953	700	S>Y		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	702	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	703	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs765147076 CA9597969	703	M>T		No	ClinGen ExAC gnomAD
CA406972720 rs1210268372	705	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs751103771 CA9597974	706	G>D		No	ClinGen ExAC TOPMed gnomAD
CA9597972 rs201350817	706	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9597973 rs751103771	706	G>V		No	ClinGen ExAC TOPMed gnomAD
rs747897602 CA9597976	708	L>V		No	ClinGen ExAC gnomAD
rs1568665998 CA406972814	709	Y>H		No	ClinGen Ensembl
CA309598961 rs768562963	711	M>T		No	ClinGen TOPMed gnomAD
rs181963296 CA9597979	712	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9597980 rs368536456	712	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1183959904 CA406972916	713	V>A		No	ClinGen gnomAD
rs776420780 CA9597983	715	A>T		No	ClinGen ExAC TOPMed gnomAD
COSM3378817 CA9597985 rs762135739	716	V>I	pancreas [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA9597986 rs765356770	717	N>D		No	ClinGen ExAC gnomAD
CA9597987 rs575810105	717	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs762699139 CA9597988	719	I>L		No	ClinGen ExAC gnomAD
rs1156328856 CA406973089	720	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA406973079 rs1401470300	720	G>R		No	ClinGen gnomAD
CA406973186 rs1568666048	724	P>L		No	ClinGen Ensembl
CA406973179 rs1187829362	724	P>S		No	ClinGen TOPMed
CA9597992 rs751444760	725	S>N		No	ClinGen ExAC gnomAD
CA406973221 rs1342386361	725	S>R		No	ClinGen gnomAD
rs761860300 CA406973337	730	P>H		No	ClinGen gnomAD
rs761860300 COSM50839 CA309599035	730	P>L	breast [Cosmic]	No	ClinGen cosmic curated gnomAD
rs761860300 CA406973340	730	P>R		No	ClinGen gnomAD
CA406973375 rs1212738801	732	M>L		No	ClinGen gnomAD
CA9597995 rs186249573	734	I>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9598012 rs199867781	737	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs201993299 CA9598014	737	T>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9598013 rs201993299	737	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs760035665 CA9598016	738	S>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs763818491 CA9598017	740	P>T		No	ClinGen ExAC
rs1380893882 CA406973663 CA406973661	742	H>Q		No	ClinGen gnomAD
CA9598020 rs756965772	744	I>M		No	ClinGen ExAC gnomAD
rs139649326 CA9598019	744	I>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9598021 rs780606199	745	V>M		No	ClinGen ExAC gnomAD
rs202178193 CA9598022	746	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs1370526789 CA406973785	750	D>V		No	ClinGen TOPMed gnomAD
rs1237980803 CA406973820	752	T>I		No	ClinGen TOPMed
TCGA novel	753	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	753	T>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1355076472 CA406973838	753	T>S		No	ClinGen TOPMed gnomAD
rs1445212160 CA406973859	754	T>I		No	ClinGen Ensembl
rs1223678704 CA406973890	756	K>N		No	ClinGen gnomAD
COSM3423010 TCGA novel CA406973903 rs1487313664	757	W>*	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	NCI-TCGA ClinGen cosmic curated TOPMed
CA309599295 CA309599290 rs974990615	758	R>S		No	ClinGen TOPMed
CA9598026 rs369701444	759	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA9598027 rs777821573	759	P>H		No	ClinGen ExAC TOPMed gnomAD
rs777821573 CA9598028	759	P>L		No	ClinGen ExAC TOPMed gnomAD
CA406973938 rs369701444	759	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA309599310 rs372638890	760	P>A		No	ClinGen ESP
rs771115908 CA9598029	760	P>L	Variant assessed as Somatic; 4.644e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1466842042 CA406973968	761	N>Y		No	ClinGen gnomAD
rs772049038 CA9598032	763	I>T		No	ClinGen ExAC gnomAD
COSM999734 rs1439007318 CA406974018 CA406974021	764	G>R	Variant assessed as Somatic; 0.0 impact. autonomic_ganglia endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA9598035 rs763763191	767	G>D		No	ClinGen ExAC TOPMed gnomAD
rs753367415 CA9598036	768	I>T		No	ClinGen ExAC gnomAD
CA9598038 rs112428167	769	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	771	Y>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA406974134 rs1460030788	771	Y>D		No	ClinGen gnomAD
CA406974132 rs1460030788	771	Y>H		No	ClinGen gnomAD
CA406974146 rs751987532	772	L>M		No	ClinGen ExAC gnomAD
CA406974174 rs1601294037	773	V>G		No	ClinGen Ensembl
CA9598040 rs755232698	773	V>L		No	ClinGen ExAC gnomAD
CA406974186 rs1601294052	774	E>G		No	ClinGen Ensembl
rs753205077 CA9598042	774	E>K		No	ClinGen ExAC gnomAD
CA406974212 rs1381929601	775	Y>*		No	ClinGen gnomAD
rs749313978 CA9598045	779	G>D		No	ClinGen ExAC gnomAD
CA406976010 rs1312864046	781	E>D		No	ClinGen gnomAD
CA9598073 rs776668461	781	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1207197710 CA406976012	782	E>K		No	ClinGen gnomAD
rs747680583 CA406976047	784	V>A		No	ClinGen ExAC TOPMed gnomAD
rs747680583 CA9598074	784	V>D		No	ClinGen ExAC TOPMed gnomAD
rs1412748109 CA406976055	785	P>A		No	ClinGen TOPMed
TCGA novel	787	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9598076 rs772743698	788	T>N		No	ClinGen ExAC gnomAD
CA406976094 rs1601295941	788	T>P		No	ClinGen Ensembl
rs775726089 CA406976105	789	E>*		No	ClinGen ExAC gnomAD
rs775726089 CA9598079	789	E>K		No	ClinGen ExAC gnomAD
CA406976123 rs1601295966	790	P>H		No	ClinGen Ensembl
CA9598080 rs760990970	790	P>S		No	ClinGen ExAC gnomAD
CA9598082 rs200844082	791	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1191223540 CA406976150	792	E>D		No	ClinGen TOPMed gnomAD
rs765301784 CA9598084	792	E>G		No	ClinGen ExAC gnomAD
rs989480007 CA309600730	795	G>A		No	ClinGen Ensembl
rs968876101 CA309600733	798	V>A		No	ClinGen Ensembl
rs1173366664 CA406976217	798	V>F		No	ClinGen gnomAD
rs1173366664 CA406976215	798	V>I		No	ClinGen gnomAD
CA406976219 rs1173366664	798	V>L		No	ClinGen gnomAD
rs911384016 CA309600738	799	K>N		No	ClinGen gnomAD
rs374979606 CA9598088	802	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs748132859 CA406976294	804	G>*		No	ClinGen ExAC gnomAD
rs748132859 CA9598091	804	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA9598093 rs777201562	809	F>L		No	ClinGen ExAC gnomAD
rs1601296032 CA406976368	810	R>G		No	ClinGen Ensembl
rs371529230 CA309600750	810	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs371529230 CA9598094	810	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA9598095 rs770525477	812	V>A		No	ClinGen ExAC TOPMed gnomAD
CA309600753 rs770525477	812	V>D		No	ClinGen ExAC TOPMed gnomAD
CA9598096 rs774009246	813	G>R		No	ClinGen ExAC gnomAD
CA309600757 rs942133649	814	V>I		No	ClinGen TOPMed gnomAD
rs1203459010 CA406976421	815	N>S		No	ClinGen gnomAD
rs918614329 CA309600762	816	I>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs1039105702 CA309600759	816	I>V		No	ClinGen TOPMed
rs759169585 CA9598097	817	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs776977854 CA9598099	819	R>H		No	ClinGen ExAC gnomAD
CA9598100 rs376193301	820	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA406976501 rs1281084959	821	E>D		No	ClinGen TOPMed
rs1183093076 CA406976497	821	E>G		No	ClinGen TOPMed gnomAD
rs765717786 CA309600774	821	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs765717786 CA9598101	821	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA9598102 rs750473533	822	P>L		No	ClinGen ExAC gnomAD
CA406976510 rs750473533	822	P>R		No	ClinGen ExAC gnomAD
rs756858903 CA309600779	824	T>I		No	ClinGen Ensembl
CA406976528 rs1601296092	824	T>P		No	ClinGen Ensembl
CA406976553 rs1601296100	826	A>P		No	ClinGen Ensembl
rs781197190 CA406976589	828	P>L		No	ClinGen ExAC gnomAD
CA9598107 rs781197190	828	P>R		No	ClinGen ExAC gnomAD
rs755216729 CA9598106	828	P>T		No	ClinGen ExAC TOPMed gnomAD
rs752523497 CA9598108	830	T>A		No	ClinGen ExAC gnomAD
rs756013900 CA406976623	831	I>F		No	ClinGen ExAC gnomAD
CA9598109 rs756013900	831	I>V		No	ClinGen ExAC gnomAD
CA406976644 rs1470897918	832	R>T		No	ClinGen TOPMed
CA9598110 rs777728958	833	E>Q		No	ClinGen ExAC gnomAD
rs748773939 CA9598111	835	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs753563113 CA9598150	838	P>S		No	ClinGen ExAC TOPMed gnomAD
CA406976875 rs1394458158	839	K>R		No	ClinGen gnomAD
rs199690062 CA9598152	840	I>M		No	ClinGen 1000Genomes ExAC gnomAD
rs1187092612 CA406976893	840	I>N		No	ClinGen gnomAD
CA406976888 rs1568668118	840	I>V		No	ClinGen Ensembl
CA9598153 rs749965325	841	R>W		No	ClinGen ExAC TOPMed gnomAD
CA9598155 rs757854161	843	P>A		No	ClinGen ExAC TOPMed gnomAD
rs757854161 CA9598156	843	P>S		No	ClinGen ExAC TOPMed gnomAD
CA9598154 rs757854161	843	P>T		No	ClinGen ExAC TOPMed gnomAD
rs202035202 CA9598157	844	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA9598158 rs377635463	844	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA309600876 rs1051736916	845	H>Y		No	ClinGen TOPMed gnomAD
CA406976992 rs1304563377	846	L>F		No	ClinGen gnomAD
CA9598161 rs774953527	848	Q>*		No	ClinGen ExAC gnomAD
CA9598163 rs772321246	850	Y>S		No	ClinGen ExAC gnomAD
CA309600886 COSM475083 rs866764717	852	R>H	kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs939174254 CA406977127	854	V>E		No	ClinGen gnomAD
CA309600888 rs939174254	854	V>G		No	ClinGen gnomAD
CA406977154 rs775430016	856	E>*		No	ClinGen ExAC TOPMed gnomAD
rs775430016 CA9598164	856	E>K		No	ClinGen ExAC TOPMed gnomAD
rs761016210 CA9598165	857	Q>*		No	ClinGen ExAC gnomAD
CA406977187 rs1173377585	857	Q>H		No	ClinGen TOPMed
CA406977182 rs1357862182	857	Q>P		No	ClinGen TOPMed
CA406977221 rs1432039920	859	N>S		No	ClinGen TOPMed
rs764165519 CA9598166	860	L>F		No	ClinGen ExAC TOPMed gnomAD
CA406977274 rs1408614819	862	V>A		No	ClinGen gnomAD
rs1052615496 CA309600896	863	P>L		No	ClinGen gnomAD
CA9598167 rs776489675	863	P>T		No	ClinGen ExAC gnomAD
CA406977419 rs1276047072	866	G>*		No	ClinGen TOPMed gnomAD
CA406977455 rs1034523561	868	P>H		No	ClinGen TOPMed
CA309600941 rs1034523561	868	P>L		No	ClinGen TOPMed
rs762000682 CA406977460	869	R>G		No	ClinGen ExAC TOPMed gnomAD
rs1202287596 CA406977467	869	R>P		No	ClinGen gnomAD
rs1202287596 CA406977465	869	R>Q		No	ClinGen gnomAD
rs762000682 CA9598188	869	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1007180029 CA309600948	870	P>L		No	ClinGen Ensembl
rs895539285 CA309600945	870	P>S		No	ClinGen TOPMed gnomAD
rs1158837953 CA406977493	871	Q>*		No	ClinGen TOPMed
rs1188710241 CA406977507	871	Q>H		No	ClinGen gnomAD
CA9598190 rs772986107	872	V>L		No	ClinGen ExAC TOPMed gnomAD
CA406977527 rs1474323385	873	V>L		No	ClinGen TOPMed gnomAD
rs1474323385 CA406977524	873	V>M		No	ClinGen TOPMed gnomAD
CA406977545 rs1215905251	874	W>C		No	ClinGen gnomAD
rs762932749 CA9598191	875	T>A		No	ClinGen ExAC gnomAD
rs1018501276 CA309600953	876	K>N		No	ClinGen Ensembl
rs1386969745 CA406977583	878	G>R		No	ClinGen TOPMed
CA309600956 rs965949553	879	A>T		No	ClinGen Ensembl
CA406977603 rs1186775267	879	A>V		No	ClinGen TOPMed
CA406977614 rs1409732986	880	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA406977622 rs1207184349	881	L>P		No	ClinGen TOPMed
CA406977618 rs1262476486	881	L>V		No	ClinGen TOPMed
rs1265244778 CA406977645	883	T>A		No	ClinGen TOPMed
CA9598193 rs751081398	885	R>C		No	ClinGen ExAC TOPMed gnomAD
rs998326884 CA406977677	885	R>H		No	ClinGen TOPMed gnomAD
rs998326884 CA309600961	885	R>L		No	ClinGen TOPMed gnomAD
CA9598195 rs200634321	886	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9598196 rs200634321	886	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1016914605 CA309600969	888	V>L		No	ClinGen gnomAD
CA406977732 rs1016914605	888	V>M		No	ClinGen gnomAD
rs1338573166 CA406977749	889	R>Q		No	ClinGen TOPMed gnomAD
CA406977802 rs568062384 CA9598200	891	S>R		No	ClinGen ExAC TOPMed gnomAD
CA406977807 rs1348477868	892	D>H		No	ClinGen gnomAD
CA9598203 rs747136038	894	D>A		No	ClinGen ExAC TOPMed gnomAD
rs576702101 CA9598202	894	D>H		No	ClinGen 1000Genomes ExAC gnomAD
rs576702101 CA406977844	894	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
CA9598205 rs781301512	896	V>L		No	ClinGen ExAC gnomAD
CA309600982 rs781301512	896	V>M		No	ClinGen ExAC gnomAD
CA309600987 rs1016515765	897	F>L		No	ClinGen TOPMed gnomAD
rs867693909 CA309600992	898	F>L		No	ClinGen TOPMed
rs748434138 CA9598207	899	V>L		No	ClinGen ExAC TOPMed gnomAD
CA9598209 rs368448859	900	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA309600998 rs368448859	900	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA9598208 rs368448859	900	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA406977958 rs1172479307	901	Q>E		No	ClinGen gnomAD
rs370441872 CA9598210	901	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA406977976 rs1172282270	902	A>V		No	ClinGen gnomAD
CA9598212 rs774207984	904	R>C		No	ClinGen ExAC gnomAD
CA309601006 rs988024945	904	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs913720411 CA309601008	905	S>F		No	ClinGen Ensembl
rs1305300844 CA406978006	906	D>Y		No	ClinGen gnomAD
CA406978022 rs1371685376	907	S>Y		No	ClinGen gnomAD
CA309601012 rs367609198	908	G>R		No	ClinGen TOPMed gnomAD
rs1343038609 CA406978035	909	E>*		No	ClinGen gnomAD
rs1343038609 CA406978037	909	E>K		No	ClinGen gnomAD
rs1206937371 CA406978041	909	E>V		No	ClinGen gnomAD
rs775129408 CA9598216 CA9598215	910	Y>*		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	910	Y>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA406978065 rs1601296660	911	E>D		No	ClinGen Ensembl
CA9598217 rs373562000	911	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs1455094346 CA406978089	914	V>M		No	ClinGen gnomAD
rs368175142 CA9598219	916	I>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA309601024 rs866056624	918	N>K		No	ClinGen Ensembl
CA9598220 rs766743135	918	N>S		No	ClinGen ExAC gnomAD
CA309601026 rs1040364755	919	M>L		No	ClinGen gnomAD
rs1398556846 CA406978149	919	M>T		No	ClinGen gnomAD
rs1394876352 CA406978173	921	D>H		No	ClinGen gnomAD
rs1601296710 CA406978183	922	T>P		No	ClinGen Ensembl
rs1387947267 CA406978192	923	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA9598222 rs755502423	924	T>I		No	ClinGen ExAC gnomAD
TCGA novel	926	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs562218499 CA9598225	928	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1350234499 CA406978244	928	R>H		No	ClinGen gnomAD
rs529304138 CA9598226	929	V>I		No	ClinGen 1000Genomes ExAC gnomAD
CA406978716 rs1167330216	933	A>T		No	ClinGen gnomAD
CA9598252 rs745610978	935	P>A		No	ClinGen ExAC TOPMed gnomAD
CA9598253 rs371815012	935	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA309602464 rs371815012	935	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs745610978 CA406978742	935	P>T		No	ClinGen ExAC TOPMed gnomAD
rs1414329572 CA406978759	936	P>H		No	ClinGen gnomAD
CA406978767 rs1311050157	937	I>V		No	ClinGen TOPMed gnomAD
rs746922627 CA9598256	938	N>K		No	ClinGen ExAC TOPMed gnomAD
CA9598258 rs761429577	939	V>A		No	ClinGen ExAC gnomAD
rs761429577 CA406978799	939	V>G		No	ClinGen ExAC gnomAD
rs533493605 CA9598257	939	V>M		No	ClinGen 1000Genomes ExAC gnomAD
rs1234345595 CA406978811	940	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA406978802 rs1340594321	940	M>V		No	ClinGen TOPMed gnomAD
CA9598259 rs375448678	943	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs1212437734 CA406978843	943	E>K		No	ClinGen gnomAD
CA406978864 rs1601297481	944	V>G		No	ClinGen Ensembl
CA406978884 rs1179813261	945	W>*		No	ClinGen gnomAD
CA9598261 rs759901762	945	W>S		No	ClinGen ExAC gnomAD
CA9598262 rs768032389	946	G>D		No	ClinGen ExAC gnomAD
rs753248874 CA9598263	947	T>M		No	ClinGen ExAC TOPMed gnomAD
rs545505488 CA9598265 COSM1157790	949	A>T	pancreas [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA9598266 rs201756677	949	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA406978945 rs1301387813	951	V>L		No	ClinGen gnomAD
rs779157372 CA9598268	952	E>Q		No	ClinGen ExAC gnomAD
rs867341546 CA309602494	954	Q>*		No	ClinGen Ensembl
rs199536376 CA9598271	955	A>G		No	ClinGen ExAC TOPMed gnomAD
rs1395855732 CA406978974	955	A>T		No	ClinGen gnomAD
CA9598272 rs199536376	955	A>V		No	ClinGen ExAC TOPMed gnomAD
CA9598275 rs780861896	957	K>Q		No	ClinGen ExAC gnomAD
rs1356612092 CA406978987	957	K>R		No	ClinGen TOPMed gnomAD
CA9598276 rs747626327	958	D>N		No	ClinGen ExAC TOPMed gnomAD
rs1207375585 CA406978997	959	D>N		No	ClinGen gnomAD
rs769358682 CA9598277	960	G>A		No	ClinGen ExAC gnomAD
rs1262176494 CA406979005	960	G>R		No	ClinGen gnomAD
rs994639742 CA309602506	961	N>D		No	ClinGen Ensembl
CA9598278 rs772868068	962	S>G		No	ClinGen ExAC TOPMed gnomAD
CA406979017 rs772868068	962	S>R		No	ClinGen ExAC TOPMed gnomAD
CA309602509 rs3745519	964	I>V		No	ClinGen TOPMed gnomAD
rs1455546871 CA406979039	965	M>V		No	ClinGen gnomAD
rs549661674 CA9598279 CA309602516	966	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs775821309 CA9598281	967	Y>*		No	ClinGen ExAC gnomAD
rs772494833 CA9598280	967	Y>D		No	ClinGen ExAC TOPMed gnomAD
CA9598283 CA406979063 rs373203655	968	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA9598284 rs201200869	969	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	970	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA406979088 rs761904901	972	A>E		No	ClinGen ExAC
rs1454438576 CA406979085	972	A>T		No	ClinGen gnomAD
rs761904901 CA9598286	972	A>V		No	ClinGen ExAC
rs1568669142 CA406979096 CA406979097	973	D>E		No	ClinGen Ensembl
rs1164893094 CA406979094	973	D>G		No	ClinGen TOPMed
CA406979090 rs1386979394	973	D>N		No	ClinGen gnomAD
rs1020861365 CA309602529	974	K>Q		No	ClinGen Ensembl
CA9598289 rs765211729	976	T>I		No	ClinGen ExAC gnomAD
rs757263482	976	T>P	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs1234598725 CA406979113	976	T>P		No	ClinGen TOPMed gnomAD
rs1367489613 CA406979125	977	M>I		No	ClinGen gnomAD
CA9598315 rs567328640	978	E>K		No	ClinGen 1000Genomes ExAC gnomAD
CA9598316 rs767191192	979	W>R		No	ClinGen ExAC TOPMed gnomAD
CA9598317 rs150831357	982	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9598318 rs150831357	982	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1272487500 CA406979179	983	Y>C		No	ClinGen gnomAD
rs1204563391 CA406979175	983	Y>H		No	ClinGen gnomAD
CA406979182 rs1486785214	984	E>K		No	ClinGen gnomAD
CA9598319 rs374456761	985	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA9598320 rs376094153	985	R>H		No	ClinGen ESP ExAC TOPMed
CA9598322 rs756938204	986	N>I		No	ClinGen ExAC gnomAD
CA9598321 rs756938204	986	N>S		No	ClinGen ExAC gnomAD
rs370297153 CA9598323	987	R>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs931320986 CA309603037	987	R>S		No	ClinGen TOPMed
rs1049729621 CA309603039	991	C>R		No	ClinGen TOPMed
TCGA novel	993	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA406979243 rs1456995226	993	V>E		No	ClinGen TOPMed
rs200402329 CA9598326	995	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs940606299 CA309603048	997	I>T		No	ClinGen TOPMed gnomAD
CA309603046 rs201715452	997	I>V		No	ClinGen Ensembl
rs199724633 CA9598328	998	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9598329 rs773345907	1000	N>S		No	ClinGen ExAC gnomAD
CA9598332 rs774759223	1004	F>V		No	ClinGen ExAC TOPMed gnomAD
CA406979320 rs1364379290	1005	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs759798722 CA9598333	1005	R>Q		No	ClinGen ExAC gnomAD
CA9598334 rs200308610	1006	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9598335 rs200308610	1006	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs756085622 CA9598336	1007	Y>D		No	ClinGen ExAC TOPMed gnomAD
CA9598340 rs536618698	1009	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9598341 rs750145345	1011	I>V		No	ClinGen ExAC gnomAD
CA406979366 rs1156267273	1012	C>*		No	ClinGen TOPMed
rs554656054 CA9598342	1012	C>Y		No	ClinGen 1000Genomes ExAC gnomAD
CA406979368 rs1233153479 CA406979369	1013	G>R		No	ClinGen TOPMed
CA9598344 rs377472716	1018	P>A		No	ClinGen 1000Genomes ExAC gnomAD
rs770364722 CA9598346	1018	P>L		No	ClinGen ExAC gnomAD
CA9598345 rs377472716	1018	P>S		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	1022	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA406979440 rs1272922464	1024	T>A		No	ClinGen TOPMed
rs748482674 CA9598347	1024	T>M		No	ClinGen ExAC TOPMed gnomAD
rs532843099 CA9598349	1026	R>C		No	ClinGen ExAC TOPMed gnomAD
CA9598350 rs201843462	1026	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs369059665 CA9598351	1027	I>M		No	ClinGen ESP ExAC gnomAD
CA9598353 rs775390450	1029	K>Q		No	ClinGen ExAC gnomAD
CA406979469 rs1234087234	1029	K>R		No	ClinGen gnomAD
rs577903801 CA309603089	1030	T>I		No	ClinGen 1000Genomes
CA309603157 rs569496991	1031	G>E		No	ClinGen 1000Genomes gnomAD
CA309603162 rs985580066	1033	T>A		No	ClinGen TOPMed gnomAD
rs376100512 CA9598379	1034	F>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs200463628 CA9598380	1036	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs200463628 CA309603167	1036	P>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9598383 rs368309843	1037	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA406979529 rs1326247564	1037	F>S		No	ClinGen TOPMed
CA9598384 rs754195476	1038	E>K		No	ClinGen ExAC TOPMed gnomAD
rs757872849 CA406979543	1039	Y>C		No	ClinGen ExAC gnomAD
rs757872849 CA9598385	1039	Y>S		No	ClinGen ExAC gnomAD
CA406979550 rs1408170534	1040	K>M		No	ClinGen gnomAD
CA9598387 rs779517649	1041	E>*		No	ClinGen ExAC TOPMed gnomAD
CA406979557 rs1421630895	1041	E>G		No	ClinGen TOPMed
rs779517649 CA406979554	1041	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1244480910 CA406979565	1042	H>R		No	ClinGen gnomAD
CA406979562 rs1341515193	1042	H>Y		No	ClinGen gnomAD
CA406979575 rs1342029025	1043	D>E		No	ClinGen gnomAD
rs1264253742 CA406979572	1043	D>V		No	ClinGen TOPMed gnomAD
CA9598388 rs746368978	1044	F>I		No	ClinGen ExAC
rs780178231 CA9598390	1045	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA9598389 rs761663892	1045	R>W		No	ClinGen ExAC TOPMed
rs1481879317 CA406979593	1046	M>I		No	ClinGen gnomAD
rs1189683481 CA406979599	1047	A>V		No	ClinGen gnomAD
CA406979602 rs1256420264	1048	P>A		No	ClinGen gnomAD
rs747255080 CA9598391	1049	K>R		No	ClinGen ExAC TOPMed gnomAD
CA9598392 rs747255080	1049	K>T		No	ClinGen ExAC TOPMed gnomAD
CA9598393 rs776413801	1050	F>L		No	ClinGen ExAC TOPMed gnomAD
rs1374730036 CA406979631	1052	T>I		No	ClinGen gnomAD
CA406979633 rs1169329160	1053	P>A		No	ClinGen gnomAD
CA9598394 rs747896259	1053	P>L		No	ClinGen ExAC gnomAD
CA406979634 rs1169329160	1053	P>S		No	ClinGen gnomAD
rs566665213 CA9598395	1054	L>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA406979647 rs1304878783	1055	I>T		No	ClinGen gnomAD
rs1395819353 CA406979657	1056	D>E		No	ClinGen gnomAD
CA9598396 rs773072851	1056	D>N		No	ClinGen ExAC gnomAD
rs199837060 CA9598397	1057	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs199837060 CA9598398	1057	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA406979665 rs1328736602	1057	R>H		No	ClinGen TOPMed gnomAD
COSM999739 CA9598400 rs764990863	1058	V>M	large_intestine endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs757748294 CA9598403	1060	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1568670166 CA406979715	1062	G>E		No	ClinGen Ensembl
rs1601298965 CA406979724	1063	Y>D		No	ClinGen Ensembl
rs552777401 CA9598407	1064	S>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA406980072 rs1449822308	1065	A>S		No	ClinGen gnomAD
CA9598409 RCV001007821 rs374646145	1065	A>V		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs1413784492 CA406980083	1066	A>T		No	ClinGen TOPMed
CA9598410 rs780013728	1066	A>V		No	ClinGen ExAC
CA9598412 rs559611292	1067	L>F		No	ClinGen ExAC TOPMed gnomAD
rs559611292 CA9598411	1067	L>I		No	ClinGen ExAC TOPMed gnomAD
rs1601298993 CA406980093	1067	L>P		No	ClinGen Ensembl
rs1178252632 CA406980095	1068	N>H		No	ClinGen gnomAD
rs25668 CA406980115	1069	C>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9598414 rs748346424	1070	A>T		No	ClinGen ExAC TOPMed gnomAD
rs769616348 CA9598415	1071	V>D		No	ClinGen ExAC gnomAD
rs987943246 CA309603224	1071	V>I		No	ClinGen gnomAD
CA406980141 rs1436278330	1072	R>T		No	ClinGen gnomAD
rs1320544726 CA406980146	1073	G>C		No	ClinGen gnomAD
CA9598417 rs545146095	1075	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs545146095 CA406980170	1075	P>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9598435 rs753592628	1077	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1349796472 CA406980359	1079	V>L		No	ClinGen gnomAD
CA406980357 rs1349796472	1079	V>M		No	ClinGen gnomAD
CA9598438 rs770799359	1080	V>A		No	ClinGen ExAC gnomAD
CA9598437 rs749042774	1080	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1286042170 CA406980372	1081	W>L		No	ClinGen gnomAD
rs1408784986 CA406980368	1081	W>R		No	ClinGen gnomAD
rs745772875 CA9598440	1082	M>I		No	ClinGen ExAC gnomAD
CA9598441 rs771779603	1084	N>K		No	ClinGen ExAC TOPMed gnomAD
rs775127191 CA9598442	1087	E>D		No	ClinGen ExAC TOPMed gnomAD
rs1319789233 CA406980416	1087	E>K		No	ClinGen gnomAD
rs760417770 CA9598443	1088	I>L		No	ClinGen ExAC gnomAD
rs768289162 CA9598444	1089	R>C		No	ClinGen ExAC TOPMed gnomAD
rs768289162 CA309603831	1089	R>G		No	ClinGen ExAC TOPMed gnomAD
CA9598445 VAR_014659 rs25667	1089	R>H		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA309603838 rs25667	1089	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs763326649 CA406980445	1091	D>E		No	ClinGen ExAC TOPMed gnomAD
rs1249885313 CA406980443	1091	D>G		No	ClinGen gnomAD
rs752100116 CA9598448	1092	P>L		No	ClinGen ExAC TOPMed gnomAD
rs527467631 CA9598447	1092	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs527467631 CA406980447	1092	P>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9598449 rs760032267	1093	K>T		No	ClinGen ExAC gnomAD
rs1399684943 CA406980469	1095	L>P		No	ClinGen TOPMed
CA9598451 rs767637653	1096	I>L		No	ClinGen ExAC gnomAD
CA406980475 rs1183510636	1096	I>M		No	ClinGen gnomAD
CA9598452 rs752713113	1096	I>T		No	ClinGen ExAC gnomAD
rs1466362930 CA406980486 COSM1637860	1098	N>S	bone [Cosmic]	No	ClinGen cosmic curated TOPMed
rs1360480197 CA406980491	1099	Y>H		No	ClinGen gnomAD
CA9598454 rs111796788	1100	Q>*		No	ClinGen 1000Genomes ExAC gnomAD
CA9598455 rs111796788	1100	Q>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
CA309603855 rs111796788	1100	Q>K		No	ClinGen 1000Genomes ExAC gnomAD
rs570606672 CA9598457	1104	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1601300699 CA406980522	1104	T>S		No	ClinGen Ensembl
CA309603869 rs1022205743	1105	L>V		No	ClinGen Ensembl
rs1204507928 CA406980542	1107	I>T		No	ClinGen gnomAD
rs372640580 CA9598460 COSM3773111	1108	R>C	pancreas [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs375655410 CA9598461	1108	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA406980547 rs375655410	1108	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA9598462 rs370531574	1109	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA9598463 rs768213781	1109	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA9598465 rs776391611	1111	S>L		No	ClinGen ExAC TOPMed gnomAD
CA9598464 rs776391611	1111	S>W		No	ClinGen ExAC TOPMed gnomAD
CA9598466 rs771389012	1112	P>S		No	ClinGen ExAC TOPMed gnomAD
rs555729965 CA9598469	1115	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA406980598 rs760859761	1117	T>I		No	ClinGen ExAC gnomAD
CA9598471 rs760859761	1117	T>S		No	ClinGen ExAC gnomAD
rs1321207234 CA406980608	1119	T>P		No	ClinGen gnomAD
CA9598472 rs764050492	1120	C>G		No	ClinGen ExAC TOPMed gnomAD
CA9598476 rs370833831	1121	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs370833831 CA9598475	1121	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9598474 rs113141947	1121	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs748413914 CA9598477	1122	A>V		No	ClinGen ExAC gnomAD
rs774096084 CA9598479	1123	V>I		No	ClinGen ExAC TOPMed gnomAD
CA9598481 rs200796385	1125	E>K		No	ClinGen ExAC TOPMed gnomAD
rs375017024 CA9598484	1128	E>K		No	ClinGen ESP ExAC gnomAD
CA9598483 rs375017024	1128	E>Q		No	ClinGen ESP ExAC gnomAD
rs143724166 CA9598485	1129	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1432746982 CA406980678	1131	A>D		No	ClinGen gnomAD
CA406980677 rs1387856144	1131	A>S		No	ClinGen TOPMed gnomAD
rs1387856144 CA406980675	1131	A>T		No	ClinGen TOPMed gnomAD
rs761083817 CA9598488	1132	E>G		No	ClinGen ExAC TOPMed
rs1332945485 CA406980682	1132	E>Q		No	ClinGen gnomAD
CA406980691 rs1437271457	1133	C>Y		No	ClinGen gnomAD
CA406980702 rs1321596039	1134	K>N		No	ClinGen gnomAD
CA309603948 rs71355147	1136	E>K		No	ClinGen Ensembl
CA9598491 rs762102971	1137	V>I		No	ClinGen ExAC gnomAD
CA9598492 rs558432228	1138	R>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA406980723 rs895478281	1138	R>P		No	ClinGen TOPMed gnomAD
CA309603957 rs895478281	1138	R>Q		No	ClinGen TOPMed gnomAD
rs924819129 CA309604639	1139	V>A		No	ClinGen TOPMed
rs201803884 CA9598522	1140	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	1140	P>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA406981156 rs781601080	1141	Q>H		No	ClinGen ExAC gnomAD
CA309604650 rs1051419574	1141	Q>K		No	ClinGen Ensembl
CA9598524 rs769231342	1141	Q>P		No	ClinGen ExAC gnomAD
rs769231342 CA406981151	1141	Q>R		No	ClinGen ExAC gnomAD

No associated diseases with Q14324

27 regional properties for Q14324

Type	Name	Position	InterPro Accession
domain	Immunoglobulin subtype 2	358 - 435	IPR003598-1
domain	Immunoglobulin subtype 2	557 - 625	IPR003598-2
domain	Immunoglobulin subtype 2	853 - 919	IPR003598-3
domain	Immunoglobulin subtype 2	1060 - 1127	IPR003598-4
domain	Immunoglobulin subtype	58 - 154	IPR003599-1
domain	Immunoglobulin subtype	263 - 342	IPR003599-2
domain	Immunoglobulin subtype	352 - 435	IPR003599-3
domain	Immunoglobulin subtype	445 - 531	IPR003599-4
domain	Immunoglobulin subtype	551 - 636	IPR003599-5
domain	Immunoglobulin subtype	847 - 930	IPR003599-6
domain	Immunoglobulin subtype	1054 - 1138	IPR003599-7
domain	Fibronectin type III	639 - 737	IPR003961-1
domain	Fibronectin type III	737 - 834	IPR003961-2
domain	Fibronectin type III	933 - 1030	IPR003961-3
domain	Immunoglobulin-like domain	345 - 419	IPR007110-1
domain	Immunoglobulin-like domain	437 - 509	IPR007110-2
domain	Immunoglobulin-like domain	539 - 629	IPR007110-3
domain	Immunoglobulin-like domain	838 - 926	IPR007110-4
domain	Immunoglobulin-like domain	1048 - 1136	IPR007110-5
domain	Immunoglobulin I-set	53 - 147	IPR013098-1
domain	Immunoglobulin I-set	258 - 333	IPR013098-2
domain	Immunoglobulin I-set	348 - 423	IPR013098-3
domain	Immunoglobulin I-set	441 - 511	IPR013098-4
domain	Immunoglobulin I-set	552 - 635	IPR013098-5
domain	Immunoglobulin I-set	852 - 929	IPR013098-6
domain	Immunoglobulin I-set	1048 - 1137	IPR013098-7
domain	MyBP-C, tri-helix bundle domain	213 - 246	IPR040849

Functions

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

2 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.
myosin filament	A supramolecular fiber containing myosin heavy chains, plus associated light chains and other proteins, in which the myosin heavy chains are arranged into a filament.

2 GO annotations of molecular function

Name	Definition
actin binding	Binding to monomeric or multimeric forms of actin, including actin filaments.
structural constituent of muscle	The action of a molecule that contributes to the structural integrity of a muscle fiber.

1 GO annotations of biological process

Name	Definition
cell adhesion	The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules.

2 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P54296	MYOM2	Myomesin-2	Homo sapiens (Human)	PR
Q5XKE0	Mybpc2	Myosin-binding protein C, fast-type	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MPEAKPAAKK	APKGKDAPKG	APKEAPPKEA	PAEAPKEAPP	EDQSPTAEEP	TGVFLKKPDS
70	80	90	100	110	120
VSVETGKDAV	VVAKVNGKEL	PDKPTIKWFK	GKWLELGSKS	GARFSFKESH	NSASNVYTVE
130	140	150	160	170	180
LHIGKVVLGD	RGYYRLEVKA	KDTCDSCGFN	IDVEAPRQDA	SGQSLESFKR	TSEKKSDTAG
190	200	210	220	230	240
ELDFSGLLKK	REVVEEEKKK	KKKDDDDLGI	PPEIWELLKG	AKKSEYEKIA	FQYGITDLRG
250	260	270	280	290	300
MLKRLKKAKV	EVKKSAAFTK	KLDPAYQVDR	GNKIKLMVEI	SDPDLTLKWF	KNGQEIKPSS
310	320	330	340	350	360
KYVFENVGKK	RILTINKCTL	ADDAAYEVAV	KDEKCFTELF	VKEPPVLIVT	PLEDQQVFVG
370	380	390	400	410	420
DRVEMAVEVS	EEGAQVMWMK	DGVELTREDS	FKARYRFKKD	GKRHILIFSD	VVQEDRGRYQ
430	440	450	460	470	480
VITNGGQCEA	ELIVEEKQLE	VLQDIADLTV	KASEQAVFKC	EVSDEKVTGK	WYKNGVEVRP
490	500	510	520	530	540
SKRITISHVG	RFHKLVIDDV	RPEDEGDYTF	VPDGYALSLS	AKLNFLEIKV	EYVPKQEPPK
550	560	570	580	590	600
IHLDCSGKTS	ENAIVVVAGN	KLRLDVSITG	EPPPVATWLK	GDEVFTTTEG	RTRIEKRVDC
610	620	630	640	650	660
SSFVIESAQR	EDEGRYTIKV	TNPVGEDVAS	IFLQVVDVPD	PPEAVRITSV	GEDWAILVWE
670	680	690	700	710	720
PPMYDGGKPV	TGYLVERKKK	GSQRWMKLNF	EVFTETTYES	TKMIEGILYE	MRVFAVNAIG
730	740	750	760	770	780
VSQPSMNTKP	FMPIAPTSEP	LHLIVEDVTD	TTTTLKWRPP	NRIGAGGIDG	YLVEYCLEGS
790	800	810	820	830	840
EEWVPANTEP	VERCGFTVKN	LPTGARILFR	VVGVNIAGRS	EPATLAQPVT	IREIAEPPKI
850	860	870	880	890	900
RLPRHLRQTY	IRKVGEQLNL	VVPFQGKPRP	QVVWTKGGAP	LDTSRVHVRT	SDFDTVFFVR
910	920	930	940	950	960
QAARSDSGEY	ELSVQIENMK	DTATIRIRVV	EKAGPPINVM	VKEVWGTNAL	VEWQAPKDDG
970	980	990	1000	1010	1020
NSEIMGYFVQ	KADKKTMEWF	NVYERNRHTS	CTVSDLIVGN	EYYFRVYTEN	ICGLSDSPGV
1030	1040	1050	1060	1070	1080
SKNTARILKT	GITFKPFEYK	EHDFRMAPKF	LTPLIDRVVV	AGYSAALNCA	VRGHPKPKVV
1090	1100	1110	1120	1130	1140
WMKNKMEIRE	DPKFLITNYQ	GVLTLNIRRP	SPFDAGTYTC	RAVNELGEAL	AECKLEVRVP

Q