AiPD: Autoinhibited Protein Database

Q96DR7

Gene name	ARHGEF26
Protein name	Rho guanine nucleotide exchange factor 26
Names	SH3 domain-containing guanine exchange factor
Species	Homo sapiens (Human)
KEGG Pathway	hsa:26084
EC number
Protein Class

Descriptions

ARHGEF26 activates RhoG GTPase by promoting the exchange of GDP by GTP.

Autoinhibitory domains (AIDs)

376-383 (Inhibitory region) SS

Target domain	439-623 (DH domain)
Relief mechanism	PTM
Assay

AID

376-383 (Inhibitory region)

Target domain

439-623 (DH domain)

Relief mechanism

PTM (Phosphorylation at a Tyr residue in the autoinhibitory helix by Src)

Assay

Accessory elements

No accessory elements

References

Yohe ME et al. (2008) "Role of the C-terminal SH3 domain and N-terminal tyrosine phosphorylation in regulation of Tim and related Dbl-family proteins", Biochemistry, 47, 6827-39

Yohe ME et al. (2007) "Auto-inhibition of the Dbl family protein Tim by an N-terminal helical motif", The Journal of biological chemistry, 282, 13813-23

Autoinhibited structure

Activated structure

3 structures for Q96DR7

Entry ID	Method	Resolution	Chain	Position	Source
6MYE	X-ray	110 A	B	42-52	PDB
7YKG	X-ray	216 A	B/D	311-322	PDB
AF-Q96DR7-F1	Predicted				AlphaFoldDB

1731 variants for Q96DR7

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs535601495 RCV000850467	336	K>missing	Marfanoid habitus and intellectual disability [ClinVar]	Yes	ClinVar dbSNP
rs1158060049 CA354985646	2	D>E		No	ClinGen TOPMed
rs1158060049	2	D>E		No	TOPMed
rs1200535479 CA354985648	3	G>R		No	ClinGen gnomAD
rs1200535479	3	G>R		No	gnomAD
rs748748466 CA2672685	4	E>D		No	ClinGen ExAC gnomAD
rs748748466	4	E>D		No	ExAC gnomAD
rs1460975707	4	E>Q		No	gnomAD
rs1460975707 CA354985660	4	E>Q		No	ClinGen gnomAD
rs374549416 CA2672686	5	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs374549416	5	S>R		No	ESP ExAC TOPMed gnomAD
rs1346647961 CA354985687	6	E>G		No	ClinGen gnomAD
rs1346647961	6	E>G		No	gnomAD
rs1472983356	6	E>K		No	gnomAD
CA354985683 rs1472983356	6	E>K		No	ClinGen gnomAD
rs1420944789	7	V>L		No	gnomAD
rs1420944789 CA354985695	7	V>L		No	ClinGen gnomAD
rs200140877 CA354985705	8	D>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs200140877	8	D>H		No	1000Genomes ESP ExAC TOPMed gnomAD
rs200140877	8	D>N		No	1000Genomes ESP ExAC TOPMed gnomAD
CA2672689 rs200140877	8	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs139430962	9	F>I		No	1000Genomes ESP ExAC TOPMed gnomAD
CA2672690 rs139430962	9	F>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1441680727	9	F>S		No	TOPMed
CA354985719 rs1441680727	9	F>S		No	ClinGen TOPMed
CA2672691 rs760465611	10	S>C		No	ClinGen ExAC gnomAD
rs760465611	10	S>C		No	ExAC gnomAD
rs763940482	11	S>G		No	ExAC gnomAD
CA2672692 rs763940482	11	S>G		No	ClinGen ExAC gnomAD
rs761855865	12	N>D		No	ExAC TOPMed gnomAD
CA2672694 rs761855865	12	N>D		No	ClinGen ExAC TOPMed gnomAD
rs541643715 CA354985753	12	N>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs541643715	12	N>K		No	1000Genomes ExAC TOPMed gnomAD
rs745450549	13	S>N		No	ExAC TOPMed gnomAD
rs745450549 CA2672696	13	S>N		No	ClinGen ExAC TOPMed gnomAD
rs1303785420 CA354985769	14	I>L		No	ClinGen TOPMed gnomAD
rs1303785420	14	I>L		No	TOPMed gnomAD
rs1216618067	14	I>M		No	TOPMed
CA354985778 rs1216618067	14	I>M		No	ClinGen TOPMed
rs1338996082	15	T>I		No	TOPMed gnomAD
rs1338996082 CA354985786	15	T>I		No	ClinGen TOPMed gnomAD
rs1279137389 CA354985796	16	P>L		No	ClinGen TOPMed gnomAD
rs1279137389	16	P>L		No	TOPMed gnomAD
rs757938558	16	P>S		No	ExAC gnomAD
CA2672697 rs757938558	16	P>S		No	ClinGen ExAC gnomAD
CA354985800 rs1198834616	17	L>S		No	ClinGen gnomAD
rs1198834616	17	L>S		No	gnomAD
rs1280595060 CA354985820	18	W>*		No	ClinGen gnomAD
rs1280595060	18	W>*		No	gnomAD
rs563109480	19	R>L		No	1000Genomes ExAC TOPMed gnomAD
CA2672698 rs563109480	19	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1442950279	19	R>W		No	gnomAD
rs1442950279 CA354985821	19	R>W		No	ClinGen gnomAD
rs994667023	22	S>*		No	gnomAD
rs994667023 CA354985852	22	S>*		No	ClinGen gnomAD
rs994667023 CA85740542	22	S>L		No	ClinGen gnomAD
rs994667023	22	S>L		No	gnomAD
CA354985854 rs994667023	22	S>W		No	ClinGen gnomAD
rs994667023	22	S>W		No	gnomAD
rs748571817 CA2672702	23	I>M		No	ClinGen ExAC gnomAD
rs748571817	23	I>M		No	ExAC gnomAD
rs188383913	24	P>L		No	1000Genomes ESP ExAC TOPMed gnomAD
CA2672704 rs188383913	24	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs756680473	24	P>S		No	ExAC gnomAD
rs756680473 CA2672703	24	P>S		No	ClinGen ExAC gnomAD
rs1359001668	25	Q>H		No	gnomAD
CA354985882 rs1359001668	25	Q>H		No	ClinGen gnomAD
CA2672706 rs771077073	25	Q>R		No	ClinGen ExAC gnomAD
rs771077073	25	Q>R		No	ExAC gnomAD
rs1402290566	26	P>H		No	gnomAD
CA354985890 rs1402290566	26	P>H		No	ClinGen gnomAD
rs774549332	28	Q>H		No	ExAC TOPMed gnomAD
rs774549332 CA354985917	28	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA2672709 rs200926651	29	V>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200926651	29	V>G		No	1000Genomes ExAC TOPMed gnomAD
rs12493885	29	V>I		No	1000Genomes ESP ExAC TOPMed gnomAD
rs12493885 CA354985918	29	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs12493885	29	V>L		No	1000Genomes ESP ExAC TOPMed gnomAD
VAR_039425 rs12493885 CA2672708	29	V>L		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs776525028 CA2672710	30	L>R		No	ClinGen ExAC gnomAD
rs776525028	30	L>R		No	ExAC gnomAD
rs959638150 CA85740590	31	G>D		No	ClinGen TOPMed gnomAD
rs959638150	31	G>D		No	TOPMed gnomAD
rs375842704	31	G>R		No	ESP ExAC TOPMed gnomAD
rs375842704 CA2672712	31	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA2672714 rs772537950	32	R>L		No	ClinGen ExAC TOPMed gnomAD
rs772537950	32	R>L		No	ExAC TOPMed gnomAD
rs772537950	32	R>P		No	ExAC TOPMed gnomAD
rs772537950 CA354985947	32	R>P		No	ClinGen ExAC TOPMed gnomAD
CA2672713 rs772537950	32	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs772537950	32	R>Q		No	ExAC TOPMed gnomAD
rs990874567 CA85740593	32	R>W		No	ClinGen Ensembl
rs990874567	32	R>W		No	Ensembl
rs1368853017	33	S>G		No	TOPMed
CA354985951 rs1368853017	33	S>G		No	ClinGen TOPMed
rs1266169126	33	S>R		No	gnomAD
rs1266169126 CA354985960	33	S>R		No	ClinGen gnomAD
rs1449529271 CA354985968	34	K>R		No	ClinGen gnomAD
rs1449529271	34	K>R		No	gnomAD
rs1246769605 CA354985973	35	P>T		No	ClinGen gnomAD
rs1246769605	35	P>T		No	gnomAD
rs751235813 CA2672716	38	Q>R		No	ClinGen ExAC gnomAD
rs751235813	38	Q>R		No	ExAC gnomAD
rs1421856629	39	S>F		No	gnomAD
rs1421856629 CA354986023	39	S>F		No	ClinGen gnomAD
rs1390209944	40	Y>C		No	gnomAD
CA354986032 rs1390209944	40	Y>C		No	ClinGen gnomAD
rs890249420	42	S>G		No	TOPMed
CA85740615 rs890249420	42	S>G		No	ClinGen TOPMed
rs1325839411	42	S>R		No	gnomAD
CA354986061 rs1325839411	42	S>R		No	ClinGen gnomAD
CA354986056 rs1385301187	42	S>T		No	ClinGen gnomAD
rs1385301187	42	S>T		No	gnomAD
CA354986070 rs1560032697	43	P>L		No	ClinGen Ensembl
rs1560032697	43	P>L		No	Ensembl
CA2672718 rs552873638	43	P>S		No	ClinGen 1000Genomes ExAC gnomAD
rs552873638	43	P>S		No	1000Genomes ExAC gnomAD
rs369109073	44	N>I		No	ESP ExAC TOPMed gnomAD
CA2672720 rs369109073	44	N>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1042514109 CA354986080	44	N>K		No	ClinGen gnomAD
rs1042514109	44	N>K		No	gnomAD
CA2672719 rs369109073	44	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs369109073	44	N>S		No	ESP ExAC TOPMed gnomAD
CA2672721 rs374318138	45	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs374318138	45	G>R		No	ESP ExAC TOPMed gnomAD
rs191718226	46	L>I		No	1000Genomes ESP ExAC TOPMed gnomAD
CA354986089 rs191718226	46	L>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs779010194 CA2672725	49	T>M		No	ClinGen ExAC gnomAD
rs779010194	49	T>M		No	ExAC gnomAD
CA354986132 rs1188378054	50	D>G		No	ClinGen Ensembl
rs1188378054	50	D>G		No	Ensembl
CA2672726 rs746054521	50	D>N		No	ClinGen ExAC gnomAD
rs746054521	50	D>N		No	ExAC gnomAD
rs776239658	52	P>A		No	ExAC gnomAD
rs776239658 CA354986152	52	P>A		No	ClinGen ExAC gnomAD
rs747987825	52	P>L		No	ExAC gnomAD
CA2672729 rs747987825	52	P>L		No	ClinGen ExAC gnomAD
rs776239658	52	P>T		No	ExAC gnomAD
rs776239658 CA2672728	52	P>T		No	ClinGen ExAC gnomAD
rs1368237299	53	V>M		No	gnomAD
CA354986160 rs1368237299	53	V>M		No	ClinGen gnomAD
CA2672733 rs765957764	54	E>Q		No	ClinGen ExAC
rs765957764	54	E>Q		No	ExAC
CA2672734 rs774029344	55	D>E		No	ClinGen ExAC gnomAD
rs774029344	55	D>E		No	ExAC gnomAD
rs183943524	56	G>*		No	1000Genomes ESP ExAC TOPMed gnomAD
CA2672736 rs183943524	56	G>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs183943524	56	G>R		No	1000Genomes ESP ExAC TOPMed gnomAD
rs183943524 CA2672737	56	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs761099703 CA2672739	57	G>R		No	ClinGen ExAC gnomAD
rs761099703	57	G>R		No	ExAC gnomAD
rs754345671	57	G>V		No	ExAC gnomAD
CA2672740 rs754345671	57	G>V		No	ClinGen ExAC gnomAD
CA2672738 rs761099703	57	G>W		No	ClinGen ExAC gnomAD
rs761099703	57	G>W		No	ExAC gnomAD
rs1329410931	58	T>M		No	gnomAD
rs1329410931 CA354986212	58	T>M		No	ClinGen gnomAD
rs1329410931	58	T>R		No	gnomAD
rs1329410931 CA354986211	58	T>R		No	ClinGen gnomAD
COSM1186446 CA2672741 rs757798620 COSM1186447 COSM1186445	58	T>S	lung [Cosmic]	No	ClinGen cosmic curated ExAC
rs757798620	58	T>S		No	ExAC
rs59508481	60	L>F		No	1000Genomes ESP ExAC TOPMed gnomAD
CA2672749 rs59508481	60	L>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs12497267	60	L>P		No	1000Genomes ESP ExAC TOPMed gnomAD
VAR_058205 rs12497267 CA2672750	60	L>P		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs386667246	60	L>S		No	Ensembl
rs386667246 CA85740716	60	L>S		No	ClinGen Ensembl
rs59508481 CA354986228	60	L>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs59508481	60	L>V		No	1000Genomes ESP ExAC TOPMed gnomAD
CA354986243 rs1560032917	61	A>V		No	ClinGen Ensembl
rs1560032917	61	A>V		No	Ensembl
rs777470767	62	A>E		No	ExAC gnomAD
rs777470767 CA354986256	62	A>E		No	ClinGen ExAC gnomAD
rs777470767	62	A>G		No	ExAC gnomAD
rs777470767 CA2672754	62	A>G		No	ClinGen ExAC gnomAD
rs1404709576 CA354986267	63	Q>H		No	ClinGen TOPMed
rs1404709576	63	Q>H		No	TOPMed
rs749198070	63	Q>R		No	ExAC gnomAD
rs749198070 CA2672755	63	Q>R		No	ClinGen ExAC gnomAD
CA2672757 rs773943947	65	P>H		No	ClinGen ExAC gnomAD
rs773943947	65	P>H		No	ExAC gnomAD
rs771019208 CA2672756	65	P>T		No	ClinGen ExAC TOPMed gnomAD
rs771019208	65	P>T		No	ExAC TOPMed gnomAD
rs759124391	66	A>S		No	ExAC TOPMed gnomAD
CA2672758 rs759124391	66	A>S		No	ClinGen ExAC TOPMed gnomAD
rs759124391	66	A>T		No	ExAC TOPMed gnomAD
rs759124391 CA354986288	66	A>T		No	ClinGen ExAC TOPMed gnomAD
rs775191832	67	Q>*		No	ExAC gnomAD
rs775191832 CA354986309	67	Q>*		No	ClinGen ExAC gnomAD
rs775191832 CA2672760	67	Q>K		No	ClinGen ExAC gnomAD
rs775191832	67	Q>K		No	ExAC gnomAD
CA354986312 rs1385114766	67	Q>R		No	ClinGen Ensembl
rs1385114766	67	Q>R		No	Ensembl
rs764485447	68	V>G		No	ExAC gnomAD
rs764485447 CA2672762	68	V>G		No	ClinGen ExAC gnomAD
rs760291288	68	V>M		No	ExAC
CA2672761 rs760291288	68	V>M		No	ClinGen ExAC
rs1190072998	69	P>L		No	gnomAD
CA354986347 rs1190072998	69	P>L		No	ClinGen gnomAD
rs754228753 CA2672763	69	P>S		No	ClinGen ExAC TOPMed gnomAD
rs754228753	69	P>S		No	ExAC TOPMed gnomAD
CA354986368 rs1418772573	71	A>S		No	ClinGen gnomAD
rs1418772573	71	A>S		No	gnomAD
rs762258759 CA2672764	71	A>V		No	ClinGen ExAC gnomAD
rs762258759	71	A>V		No	ExAC gnomAD
rs1402522310 CA354986389	72	S>L		No	ClinGen gnomAD
rs1402522310	72	S>L		No	gnomAD
rs1476168782 CA354986377	72	S>P		No	ClinGen TOPMed
rs1476168782	72	S>P		No	TOPMed
rs750433903 CA2672766	73	D>E		No	ClinGen ExAC gnomAD
rs750433903	73	D>E		No	ExAC gnomAD
rs1244501802	73	D>Y		No	TOPMed
CA354986409 rs1244501802	73	D>Y		No	ClinGen TOPMed
rs1397502772	75	R>G		No	gnomAD
CA354986444 rs1397502772	75	R>G		No	ClinGen gnomAD
CA354986450 rs1313169931	75	R>T		No	ClinGen gnomAD
rs1313169931	75	R>T		No	gnomAD
rs780048687 CA2672768	76	T>A		No	ClinGen ExAC gnomAD
rs780048687	76	T>A		No	ExAC gnomAD
rs1279748121 CA354986468	77	V>I		No	ClinGen gnomAD
rs1279748121	77	V>I		No	gnomAD
CA2672771 rs777575695	78	H>R		No	ClinGen ExAC TOPMed gnomAD
rs777575695	78	H>R		No	ExAC TOPMed gnomAD
rs770929482	79	R>K		No	ExAC gnomAD
rs770929482 CA2672773	79	R>K		No	ClinGen ExAC gnomAD
CA85740801 rs994779385	80	S>C		No	ClinGen Ensembl
rs994779385	80	S>C		No	Ensembl
rs778991627	80	S>N		No	ExAC TOPMed gnomAD
rs778991627 CA2672774	80	S>N		No	ClinGen ExAC TOPMed gnomAD
rs1026128378 CA354986543	80	S>R		No	ClinGen gnomAD
rs1026128378	80	S>R		No	gnomAD
rs1191740871 CA354986558	81	P>L		No	ClinGen TOPMed gnomAD
rs1191740871	81	P>L		No	TOPMed gnomAD
rs1191740871	81	P>R		No	TOPMed gnomAD
CA354986557 rs1191740871	81	P>R		No	ClinGen TOPMed gnomAD
rs745861002	81	P>S		No	ExAC TOPMed gnomAD
CA2672775 rs745861002	81	P>S		No	ClinGen ExAC TOPMed gnomAD
rs551828548	82	L>V		No	1000Genomes gnomAD
rs551828548 CA85740816	82	L>V		No	ClinGen 1000Genomes gnomAD
CA2672776 rs771585188	84	L>P		No	ClinGen ExAC gnomAD
rs771585188	84	L>P		No	ExAC gnomAD
rs962778581	85	G>C		No	TOPMed
CA85740823 rs962778581	85	G>C		No	ClinGen TOPMed
CA2672777 rs202028402	85	G>V		No	ClinGen ExAC TOPMed gnomAD
rs202028402	85	G>V		No	ExAC TOPMed gnomAD
CA2672778 rs760331148	86	A>V		No	ClinGen ExAC gnomAD
rs760331148	86	A>V		No	ExAC gnomAD
rs1467521475	87	Q>*		No	gnomAD
CA354986644 rs1467521475	87	Q>*		No	ClinGen gnomAD
rs866707070	87	Q>R		No	Ensembl
CA85740828 rs866707070	87	Q>R		No	ClinGen Ensembl
rs768211881	88	R>Q		No	ExAC gnomAD
rs768211881 CA2672779	88	R>Q		No	ClinGen ExAC gnomAD
rs1397952050 CA354986671	89	R>G		No	ClinGen gnomAD
rs1397952050	89	R>G		No	gnomAD
rs1299606317	90	A>G		No	gnomAD
CA354986695 rs1299606317	90	A>G		No	ClinGen gnomAD
rs534326659	91	V>L		No	1000Genomes ExAC gnomAD
CA2672782 rs534326659	91	V>L		No	ClinGen 1000Genomes ExAC gnomAD
CA2672783 rs552521961	92	A>T		No	ClinGen 1000Genomes ExAC gnomAD
rs552521961	92	A>T		No	1000Genomes ExAC gnomAD
rs763411130	92	A>V		No	ExAC gnomAD
rs763411130 CA2672784	92	A>V		No	ClinGen ExAC gnomAD
rs574208989 CA354986729	93	N>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs574208989	93	N>I		No	1000Genomes ExAC TOPMed gnomAD
rs574208989	93	N>S		No	1000Genomes ExAC TOPMed gnomAD
rs574208989 CA2672785	93	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1353389151	94	G>D		No	TOPMed gnomAD
CA354986748 rs1353389151	94	G>D		No	ClinGen TOPMed gnomAD
CA85740880 rs959517269	95	G>R		No	ClinGen gnomAD
rs959517269	95	G>R		No	gnomAD
rs753038585	97	A>G		No	ExAC TOPMed
rs753038585 CA2672789	97	A>G		No	ClinGen ExAC TOPMed
rs867769952	97	A>S		No	Ensembl
CA85740886 rs867769952	97	A>S		No	ClinGen Ensembl
rs867769952 CA85740885	97	A>T		No	ClinGen Ensembl
rs867769952	97	A>T		No	Ensembl
rs1190902053	99	P>L		No	gnomAD
rs1190902053 CA354986820	99	P>L		No	ClinGen gnomAD
CA354986822 rs1435033370	100	E>Q		No	ClinGen gnomAD
rs1435033370	100	E>Q		No	gnomAD
rs535207968	102	R>G		No	1000Genomes ExAC TOPMed gnomAD
rs535207968 CA2672793	102	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs779563502 CA2672794	102	R>M		No	ClinGen ExAC gnomAD
rs779563502	102	R>M		No	ExAC gnomAD
rs1160247575 CA354986869	102	R>S		No	ClinGen TOPMed gnomAD
rs1160247575	102	R>S		No	TOPMed gnomAD
rs746513517 CA354986876	103	A>P		No	ClinGen ExAC gnomAD
rs746513517	103	A>P		No	ExAC gnomAD
rs746513517	103	A>T		No	ExAC gnomAD
rs746513517 CA2672795	103	A>T		No	ClinGen ExAC gnomAD
rs200766815 CA2672797	105	S>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200766815	105	S>F		No	1000Genomes ExAC TOPMed gnomAD
rs1291488868	105	S>T		No	gnomAD
rs1291488868 CA354986903	105	S>T		No	ClinGen gnomAD
rs1304747726 CA354986916	106	P>L		No	ClinGen TOPMed gnomAD
rs1304747726	106	P>L		No	TOPMed gnomAD
CA354986913 rs1441045257	106	P>S		No	ClinGen gnomAD
rs1441045257	106	P>S		No	gnomAD
rs747855116 CA2672798	107	R>*		No	ClinGen ExAC gnomAD
rs747855116	107	R>*		No	ExAC gnomAD
rs1238348651	107	R>Q		No	gnomAD
rs1238348651 CA354986921	107	R>Q		No	ClinGen gnomAD
rs770114440	108	L>F		No	ExAC gnomAD
CA2672799 rs770114440	108	L>F		No	ClinGen ExAC gnomAD
rs202114850	108	L>H		No	1000Genomes ExAC TOPMed gnomAD
rs202114850 CA85740936	108	L>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs202114850 CA2672800	108	L>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs202114850	108	L>P		No	1000Genomes ExAC TOPMed gnomAD
rs202114850	108	L>R		No	1000Genomes ExAC TOPMed gnomAD
rs202114850 CA85740937	108	L>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs370676439 CA2672801	109	R>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs370676439	109	R>*		No	ESP ExAC TOPMed gnomAD
rs1439916057	109	R>Q		No	TOPMed
CA354986948 rs1439916057	109	R>Q		No	ClinGen TOPMed
CA2672802 rs766810328	110	R>G		No	ClinGen ExAC TOPMed gnomAD
rs766810328	110	R>G		No	ExAC TOPMed gnomAD
rs1489480699	110	R>P		No	TOPMed gnomAD
rs1489480699 CA354986961	110	R>P		No	ClinGen TOPMed gnomAD
rs1489480699	110	R>Q		No	TOPMed gnomAD
CA354986963 rs1489480699	110	R>Q		No	ClinGen TOPMed gnomAD
CA354986956 rs766810328	110	R>W		No	ClinGen ExAC TOPMed gnomAD
rs766810328	110	R>W		No	ExAC TOPMed gnomAD
rs759534905 CA2672804	112	K>R		No	ClinGen ExAC gnomAD
rs759534905	112	K>R		No	ExAC gnomAD
rs911797275	115	K>R		No	TOPMed
CA85740952 rs911797275	115	K>R		No	ClinGen TOPMed
rs1408426096	116	L>I		No	gnomAD
rs1408426096 CA354987034	116	L>I		No	ClinGen gnomAD
rs767766616	117	P>A		No	ExAC gnomAD
rs767766616 CA2672805	117	P>A		No	ClinGen ExAC gnomAD
rs943312584	118	K>R		No	TOPMed gnomAD
CA85740956 rs943312584	118	K>R		No	ClinGen TOPMed gnomAD
rs1351280630	119	A>S		No	gnomAD
rs1351280630 CA354987100	119	A>S		No	ClinGen gnomAD
CA354987103 rs1461456933	119	A>V		No	ClinGen gnomAD
rs1461456933	119	A>V		No	gnomAD
rs1397586006	120	V>A		No	gnomAD
CA354987124 rs1397586006	120	V>A		No	ClinGen gnomAD
CA354987148 rs1444183233	122	G>S		No	ClinGen TOPMed
rs1444183233	122	G>S		No	TOPMed
rs987027867	123	G>R		No	Ensembl
CA85740974 rs987027867	123	G>R		No	ClinGen Ensembl
rs943163363 CA85740976	124	S>F		No	ClinGen Ensembl
rs943163363	124	S>F		No	Ensembl
rs765082015 CA2672808	125	P>A		No	ClinGen ExAC gnomAD
rs765082015	125	P>A		No	ExAC gnomAD
rs1228138089 CA354987226	125	P>Q		No	ClinGen gnomAD
rs1228138089	125	P>Q		No	gnomAD
rs750204040	127	S>C		No	ExAC TOPMed gnomAD
rs750204040 CA2672809	127	S>C		No	ClinGen ExAC TOPMed gnomAD
rs747034097 CA2672812	128	P>S		No	ClinGen ExAC gnomAD
rs747034097	128	P>S		No	ExAC gnomAD
rs891433837	129	A>V		No	TOPMed
rs891433837 CA85741015	129	A>V		No	ClinGen TOPMed
rs754430390	130	N>S		No	ExAC gnomAD
rs754430390 CA2672813	130	N>S		No	ClinGen ExAC gnomAD
CA2672816 rs769461595	133	V>G		No	ClinGen ExAC TOPMed gnomAD
rs769461595	133	V>G		No	ExAC TOPMed gnomAD
CA2672815 rs747760967	133	V>L		No	ClinGen ExAC gnomAD
rs747760967	133	V>L		No	ExAC gnomAD
rs778053900	134	T>A		No	ExAC gnomAD
CA2672817 rs778053900	134	T>A		No	ClinGen ExAC gnomAD
rs774709835	135	L>F		No	ExAC TOPMed gnomAD
rs774709835 CA354987376	135	L>F		No	ClinGen ExAC TOPMed gnomAD
rs774709835 CA2672820	135	L>F		No	ClinGen ExAC TOPMed gnomAD
rs774709835	135	L>F		No	ExAC TOPMed gnomAD
rs1331408967 CA354987382	136	P>S		No	ClinGen gnomAD
rs1331408967	136	P>S		No	gnomAD
rs1331408967	136	P>T		No	gnomAD
rs1331408967 CA354987379	136	P>T		No	ClinGen gnomAD
rs1301461695	138	P>R		No	gnomAD
rs1301461695 CA354987409	138	P>R		No	ClinGen gnomAD
rs1447681808	138	P>T		No	gnomAD
CA354987402 rs1447681808	138	P>T		No	ClinGen gnomAD
rs1357828139 CA354987419	139	P>L		No	ClinGen gnomAD
rs1357828139	139	P>L		No	gnomAD
rs1307672062	140	P>R		No	TOPMed
CA354987425 rs1307672062	140	P>R		No	ClinGen TOPMed
rs775740908	140	P>S		No	ExAC gnomAD
rs775740908 CA2672827	140	P>S		No	ClinGen ExAC gnomAD
rs564230841	141	P>L		No	1000Genomes ExAC gnomAD
rs564230841 CA2672829	141	P>L		No	ClinGen 1000Genomes ExAC gnomAD
CA354987436 rs762651149	142	P>L		No	ClinGen ExAC TOPMed gnomAD
rs762651149	142	P>L		No	ExAC TOPMed gnomAD
rs762651149	142	P>Q		No	ExAC TOPMed gnomAD
rs762651149 CA2672831	142	P>Q		No	ClinGen ExAC TOPMed gnomAD
rs763550003	144	L>V		No	Ensembl
rs763550003 CA85741069	144	L>V		No	ClinGen Ensembl
CA85741081 rs994217053	145	R>C		No	ClinGen TOPMed gnomAD
rs994217053	145	R>C		No	TOPMed gnomAD
CA2672835 rs754939922	145	R>H		No	ClinGen ExAC TOPMed gnomAD
rs754939922	145	R>H		No	ExAC TOPMed gnomAD
CA354987476 rs752216683	146	P>H		No	ClinGen ExAC TOPMed gnomAD
rs752216683	146	P>H		No	ExAC TOPMed gnomAD
rs752216683 CA2672837	146	P>L		No	ClinGen ExAC TOPMed gnomAD
rs752216683	146	P>L		No	ExAC TOPMed gnomAD
rs752216683	146	P>R		No	ExAC TOPMed gnomAD
CA2672838 rs752216683	146	P>R		No	ClinGen ExAC TOPMed gnomAD
rs777289460 CA2672839	147	P>A		No	ClinGen ExAC gnomAD
rs777289460	147	P>A		No	ExAC gnomAD
CA354987484 rs1420766234	147	P>L		No	ClinGen gnomAD
rs1420766234	147	P>L		No	gnomAD
rs778948077 CA2672841	148	R>L		No	ClinGen ExAC TOPMed gnomAD
rs778948077	148	R>L		No	ExAC TOPMed gnomAD
rs778948077	148	R>P		No	ExAC TOPMed gnomAD
CA2672842 rs778948077	148	R>P		No	ClinGen ExAC TOPMed gnomAD
rs778948077	148	R>Q		No	ExAC TOPMed gnomAD
rs778948077 CA2672843	148	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs775649125	149	T>A		No	ExAC TOPMed gnomAD
CA2672845 rs775649125	149	T>A		No	ClinGen ExAC TOPMed gnomAD
rs775649125	149	T>S		No	ExAC TOPMed gnomAD
CA354987496 rs775649125	149	T>S		No	ClinGen ExAC TOPMed gnomAD
rs1432896487	150	P>H		No	gnomAD
rs1432896487 CA354987509	150	P>H		No	ClinGen gnomAD
rs1338729968	150	P>S		No	gnomAD
rs1338729968 CA354987505	150	P>S		No	ClinGen gnomAD
rs760838573 CA354987520	151	N>K		No	ClinGen ExAC TOPMed gnomAD
rs760838573 CA2672846	151	N>K		No	ClinGen ExAC TOPMed gnomAD
rs760838573	151	N>K		No	ExAC TOPMed gnomAD
rs760838573	151	N>K		No	ExAC TOPMed gnomAD
rs1191748202 CA354987516	151	N>Y		No	ClinGen TOPMed
rs1191748202	151	N>Y		No	TOPMed
rs1217889482 CA354987529	153	P>S		No	ClinGen TOPMed
rs1217889482	153	P>S		No	TOPMed
CA2672849 rs776704269	154	A>S		No	ClinGen ExAC TOPMed gnomAD
rs776704269	154	A>S		No	ExAC TOPMed gnomAD
rs776704269	154	A>T		No	ExAC TOPMed gnomAD
COSM1420071 COSM1420069 COSM1420070 CA2672850 rs776704269	154	A>T	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA2672853 rs751394343	155	P>H		No	ClinGen ExAC gnomAD
rs751394343	155	P>H		No	ExAC gnomAD
CA354987549 rs751394343	155	P>R		No	ClinGen ExAC gnomAD
rs751394343	155	P>R		No	ExAC gnomAD
rs767447466	158	P>H		No	ExAC TOPMed gnomAD
CA2672855 rs767447466	158	P>H		No	ClinGen ExAC TOPMed gnomAD
CA354987586 rs767447466	158	P>L		No	ClinGen ExAC TOPMed gnomAD
rs767447466	158	P>L		No	ExAC TOPMed gnomAD
rs755611683	159	E>K		No	ExAC TOPMed gnomAD
CA2672857 rs755611683	159	E>K		No	ClinGen ExAC TOPMed gnomAD
CA2672858 rs777394116	160	E>G		No	ClinGen ExAC TOPMed gnomAD
rs777394116	160	E>G		No	ExAC TOPMed gnomAD
CA354987610 rs1397461454	161	D>H		No	ClinGen TOPMed gnomAD
rs1397461454	161	D>H		No	TOPMed gnomAD
rs1397461454	161	D>N		No	TOPMed gnomAD
rs1397461454 CA354987607	161	D>N		No	ClinGen TOPMed gnomAD
CA354987637 rs1462337243	163	T>I		No	ClinGen TOPMed
rs1462337243	163	T>I		No	TOPMed
rs562101344	164	G>E		No	1000Genomes ExAC TOPMed gnomAD
CA2672861 rs562101344	164	G>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2672863 rs758904993	165	L>S		No	ClinGen ExAC gnomAD
rs758904993	165	L>S		No	ExAC gnomAD
rs372327491 CA85741169	166	T>A		No	ClinGen ESP TOPMed
rs372327491	166	T>A		No	ESP TOPMed
rs375088976	166	T>N		No	ESP TOPMed gnomAD
rs375088976 CA85741172	166	T>N		No	ClinGen ESP TOPMed gnomAD
rs1188285552 CA354987692	169	P>L		No	ClinGen TOPMed
rs1188285552	169	P>L		No	TOPMed
CA354987703 rs1371664619	170	V>A		No	ClinGen gnomAD
rs1371664619	170	V>A		No	gnomAD
rs562961584	171	P>A		No	1000Genomes ExAC gnomAD
CA2672868 rs562961584	171	P>A		No	ClinGen 1000Genomes ExAC gnomAD
rs770068491 CA2672869	171	P>L		No	ClinGen ExAC TOPMed gnomAD
rs770068491	171	P>L		No	ExAC TOPMed gnomAD
CA2672870 rs773952535	172	S>L		No	ClinGen ExAC TOPMed gnomAD
rs773952535	172	S>L		No	ExAC TOPMed gnomAD
rs773952535	172	S>W		No	ExAC TOPMed gnomAD
CA354987721 rs773952535	172	S>W		No	ClinGen ExAC TOPMed gnomAD
rs759323191	173	P>L		No	ExAC TOPMed gnomAD
CA2672871 rs759323191	173	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1001753486	173	P>T		No	TOPMed
CA85741185 rs1001753486	173	P>T		No	ClinGen TOPMed
rs775386067	174	T>A		No	ExAC gnomAD
rs775386067 CA2672873	174	T>A		No	ClinGen ExAC gnomAD
rs1384643437	175	A>V		No	TOPMed
rs1384643437 CA354987748	175	A>V		No	ClinGen TOPMed
rs372071551	176	N>D		No	ESP ExAC TOPMed gnomAD
rs372071551 CA2672875	176	N>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs1178625556	177	G>R		No	gnomAD
rs1178625556 CA354987764	177	G>R		No	ClinGen gnomAD
rs1471382428	178	L>F		No	gnomAD
CA354987772 rs1471382428	178	L>F		No	ClinGen gnomAD
CA354987769 rs1471382428	178	L>I		No	ClinGen gnomAD
rs1471382428	178	L>I		No	gnomAD
rs756798512	179	A>S		No	ExAC gnomAD
CA2672877 rs756798512	179	A>S		No	ClinGen ExAC gnomAD
COSM4157382 COSM4157381 CA354987786 rs1325869647 COSM4157384 COSM4157383	179	A>V	thyroid [Cosmic]	No	ClinGen cosmic curated TOPMed
rs1325869647	179	A>V		No	TOPMed
rs1403623054	180	A>T		No	gnomAD
CA354987789 rs1403623054	180	A>T		No	ClinGen gnomAD
rs750164320 CA2672879	181	N>D		No	ClinGen ExAC TOPMed gnomAD
rs750164320	181	N>D		No	ExAC TOPMed gnomAD
CA85741233 rs930292771	183	D>G		No	ClinGen Ensembl
rs930292771	183	D>G		No	Ensembl
rs114427998	183	D>H		No	1000Genomes ESP ExAC TOPMed gnomAD
rs114427998 CA2672881	183	D>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1337280026	184	S>C		No	gnomAD
rs1337280026 CA354987841	184	S>C		No	ClinGen gnomAD
rs1307057932	184	S>P		No	gnomAD
rs1307057932 CA354987832	184	S>P		No	ClinGen gnomAD
CA354987856 rs1283190153	185	P>L		No	ClinGen gnomAD
rs1283190153	185	P>L		No	gnomAD
rs747486819	185	P>T		No	ExAC TOPMed gnomAD
rs747486819 CA2672882	185	P>T		No	ClinGen ExAC TOPMed gnomAD
CA2672883 rs755539161	186	G>V		No	ClinGen ExAC gnomAD
rs755539161	186	G>V		No	ExAC gnomAD
rs781076579	187	S>L		No	ExAC TOPMed gnomAD
rs781076579 CA2672884	187	S>L		No	ClinGen ExAC TOPMed gnomAD
CA2672885 rs368674648	189	S>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs368674648	189	S>L		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1249071783 CA354987942	192	G>D		No	ClinGen gnomAD
rs1249071783	192	G>D		No	gnomAD
rs773411661	192	G>S		No	ExAC
CA2672887 rs773411661	192	G>S		No	ClinGen ExAC
rs1249071783	192	G>V		No	gnomAD
CA354987944 rs1249071783	192	G>V		No	ClinGen gnomAD
rs1368052860	193	R>L		No	gnomAD
rs1368052860 CA354987950	193	R>L		No	ClinGen gnomAD
rs1368052860	193	R>Q		No	gnomAD
CA354987956 rs1368052860	193	R>Q		No	ClinGen gnomAD
CA2672888 rs371735470	193	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs371735470	193	R>W		No	ESP ExAC TOPMed gnomAD
CA2672890 rs775299751	195	A>T		No	ClinGen ExAC gnomAD
rs775299751	195	A>T		No	ExAC gnomAD
rs1418640668	196	K>E		No	gnomAD
rs1418640668 CA354987988	196	K>E		No	ClinGen gnomAD
rs1008769557 CA355260856	198	P>H		No	ClinGen TOPMed
rs1008769557	198	P>H		No	TOPMed
rs1008769557 CA85741260	198	P>L		No	ClinGen TOPMed
rs1008769557	198	P>L		No	TOPMed
CA85741257 rs891205383	198	P>S		No	ClinGen TOPMed gnomAD
rs891205383	198	P>S		No	TOPMed gnomAD
rs1236153082	199	E>K		No	TOPMed
rs1236153082 CA355260858	199	E>K		No	ClinGen TOPMed
rs1329175135	200	R>Q		No	gnomAD
CA355260868 rs1329175135	200	R>Q		No	ClinGen gnomAD
rs1197711696	200	R>W		No	TOPMed
CA355260867 COSM3846542 COSM3846543 rs1197711696 COSM3846540 COSM3846541	200	R>W	breast [Cosmic]	No	ClinGen cosmic curated TOPMed
rs1043794403	201	G>E		No	Ensembl
CA355260874 rs1043794403	201	G>E		No	ClinGen Ensembl
rs1043794403	201	G>V		No	Ensembl
rs1043794403 CA85741265	201	G>V		No	ClinGen Ensembl
rs903989001	203	F>L		No	TOPMed gnomAD
CA355260882 rs903989001	203	F>L		No	ClinGen TOPMed gnomAD
VAR_039426 rs13096373 CA2672892	203	F>S		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs13096373	203	F>S		No	1000Genomes ESP ExAC TOPMed gnomAD
rs903989001	203	F>V		No	TOPMed gnomAD
CA85741266 rs903989001	203	F>V		No	ClinGen TOPMed gnomAD
CA355260892 rs1234722256	204	P>R		No	ClinGen gnomAD
rs1234722256	204	P>R		No	gnomAD
rs1338542216	204	P>S		No	gnomAD
rs1338542216 CA355260889	204	P>S		No	ClinGen gnomAD
rs775934623 CA355260901	206	P>A		No	ClinGen ExAC gnomAD
rs775934623	206	P>A		No	ExAC gnomAD
rs775934623 CA2672893	206	P>S		No	ClinGen ExAC gnomAD
rs775934623	206	P>S		No	ExAC gnomAD
CA355260914 rs1316700375	208	K>E		No	ClinGen TOPMed gnomAD
rs1316700375	208	K>E		No	TOPMed gnomAD
rs1316700375	208	K>Q		No	TOPMed gnomAD
CA355260913 rs1316700375	208	K>Q		No	ClinGen TOPMed gnomAD
rs761379636	210	S>Y		No	ExAC gnomAD
rs761379636 CA2672894	210	S>Y		No	ClinGen ExAC gnomAD
CA355260935 rs1250061157	211	S>A		No	ClinGen gnomAD
rs1250061157	211	S>A		No	gnomAD
rs373508464	211	S>L		No	ESP ExAC TOPMed gnomAD
CA2672895 rs373508464	211	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA2672896 rs373508464	211	S>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs373508464	211	S>W		No	ESP ExAC TOPMed gnomAD
rs758164975	212	E>D		No	ExAC TOPMed gnomAD
CA2672897 rs758164975	212	E>D		No	ClinGen ExAC TOPMed gnomAD
rs1373743441 CA355260939	212	E>Q		No	ClinGen TOPMed
rs1373743441	212	E>Q		No	TOPMed
rs1391236704	213	Q>R		No	TOPMed
rs1391236704 CA355114349	213	Q>R		No	ClinGen TOPMed
rs1464698449 CA355114368	216	P>A		No	ClinGen TOPMed
rs1464698449	216	P>A		No	TOPMed
rs766809191	217	L>I		No	ExAC gnomAD
CA355114374 rs766809191	217	L>I		No	ClinGen ExAC gnomAD
rs766809191	217	L>V		No	ExAC gnomAD
CA2672898 rs766809191	217	L>V		No	ClinGen ExAC gnomAD
rs1470434460	218	Q>R		No	gnomAD
CA355114382 rs1470434460	218	Q>R		No	ClinGen gnomAD
rs1258528793 CA355114392	219	R>S		No	ClinGen gnomAD
rs1258528793	219	R>S		No	gnomAD
rs1258528793 CA355114391	219	R>S		No	ClinGen gnomAD
rs1258528793	219	R>S		No	gnomAD
rs1032909629	222	S>F		No	TOPMed
rs1032909629 CA85741293	222	S>F		No	ClinGen TOPMed
CA2672901 rs781721563	223	Q>*		No	ClinGen ExAC gnomAD
rs781721563	223	Q>*		No	ExAC gnomAD
CA2672902 rs200278056	223	Q>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs200278056	223	Q>L		No	1000Genomes ESP ExAC TOPMed gnomAD
rs200278056	223	Q>R		No	1000Genomes ESP ExAC TOPMed gnomAD
rs200278056 CA2672903	223	Q>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1252353297	225	N>K		No	TOPMed
CA355114428 rs1252353297	225	N>K		No	ClinGen TOPMed
rs1399753860	225	N>S		No	gnomAD
CA355114426 rs1399753860	225	N>S		No	ClinGen gnomAD
rs1560034573 CA355114436	226	E>D		No	ClinGen Ensembl
rs1560034573	226	E>D		No	Ensembl
CA355114456 rs1433379465	229	E>D		No	ClinGen TOPMed gnomAD
rs1433379465	229	E>D		No	TOPMed gnomAD
rs964252414	229	E>Q		No	gnomAD
CA85741327 rs964252414	229	E>Q		No	ClinGen gnomAD
rs749476999	231	P>S		No	ExAC gnomAD
rs749476999 CA2672905	231	P>S		No	ClinGen ExAC gnomAD
rs779763028 CA2672907	232	S>Y		No	ClinGen ExAC gnomAD
rs779763028	232	S>Y		No	ExAC gnomAD
rs1255966942 CA355114483	234	V>G		No	ClinGen gnomAD
rs1255966942	234	V>G		No	gnomAD
rs746820768 CA2672908	234	V>L		No	ClinGen ExAC gnomAD
rs746820768	234	V>L		No	ExAC gnomAD
rs1346122179	236	S>R		No	gnomAD
rs1346122179 CA355114493	236	S>R		No	ClinGen gnomAD
rs376185280	238	N>D		No	Ensembl
CA85741354 rs376185280	238	N>D		No	ClinGen Ensembl
rs1212480841	239	S>G		No	TOPMed
rs1212480841 CA355114515	239	S>G		No	ClinGen TOPMed
CA85741360 rs920334340	240	P>A		No	ClinGen TOPMed gnomAD
rs920334340	240	P>A		No	TOPMed gnomAD
rs1185058358	240	P>L		No	gnomAD
rs1185058358 CA355114526	240	P>L		No	ClinGen gnomAD
CA355114523 rs920334340	240	P>S		No	ClinGen TOPMed gnomAD
rs920334340	240	P>S		No	TOPMed gnomAD
rs540798533	241	A>D		No	Ensembl
CA85741365 rs540798533	241	A>D		No	ClinGen Ensembl
CA2672909 rs768399926	241	A>P		No	ClinGen ExAC TOPMed gnomAD
rs768399926	241	A>P		No	ExAC TOPMed gnomAD
CA85741369 rs949826179	242	A>V		No	ClinGen TOPMed gnomAD
rs949826179	242	A>V		No	TOPMed gnomAD
rs1394524965	244	K>E		No	TOPMed
CA355114543 rs1394524965	244	K>E		No	ClinGen TOPMed
rs373216754	244	K>I		No	ESP ExAC gnomAD
rs373216754 CA2672910	244	K>I		No	ClinGen ESP ExAC gnomAD
rs769395780	246	G>R		No	ExAC gnomAD
rs769395780 CA2672912	246	G>R		No	ClinGen ExAC gnomAD
CA85741380 rs866975954	247	K>E		No	ClinGen Ensembl
rs866975954	247	K>E		No	Ensembl
rs1451166059 CA355114582	249	Q>H		No	ClinGen gnomAD
rs1451166059	249	Q>H		No	gnomAD
rs1359740483	249	Q>R		No	gnomAD
rs1359740483 CA355114579	249	Q>R		No	ClinGen gnomAD
rs188991834 CA2672913	250	I>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs188991834	250	I>M		No	1000Genomes ExAC TOPMed gnomAD
rs907556411	252	P>A		No	TOPMed gnomAD
rs907556411 CA85741381	252	P>A		No	ClinGen TOPMed gnomAD
rs907556411	252	P>S		No	TOPMed gnomAD
rs907556411 CA355114597	252	P>S		No	ClinGen TOPMed gnomAD
rs766134813 CA2672915	254	S>R		No	ClinGen ExAC gnomAD
rs766134813	254	S>R		No	ExAC gnomAD
rs1281477674	257	S>*		No	gnomAD
CA355114630 rs1281477674	257	S>*		No	ClinGen gnomAD
COSM3727921 COSM3727920 CA355114665 COSM3727922 rs1486205403 COSM3727923	262	S>C	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1486205403	262	S>C		No	gnomAD
rs1157955436	264	S>P		No	TOPMed
rs1157955436 CA355114680	264	S>P		No	ClinGen TOPMed
rs1209330607	264	S>Y		No	TOPMed gnomAD
rs1209330607 CA355114682	264	S>Y		No	ClinGen TOPMed gnomAD
CA2672919 rs767822896	265	N>H		No	ClinGen ExAC TOPMed gnomAD
rs767822896	265	N>H		No	ExAC TOPMed gnomAD
rs1455526231	265	N>S		No	TOPMed gnomAD
CA355114687 rs1455526231	265	N>S		No	ClinGen TOPMed gnomAD
rs1379433503 CA355114693	266	N>D		No	ClinGen gnomAD
rs1379433503	266	N>D		No	gnomAD
rs567745572	266	N>S		No	1000Genomes ExAC TOPMed gnomAD
rs567745572 CA2672920	266	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA355114711 rs1160794355	268	N>S		No	ClinGen gnomAD
rs1160794355	268	N>S		No	gnomAD
rs535079615 CA2672921	269	V>M		No	ClinGen 1000Genomes ExAC gnomAD
rs535079615	269	V>M		No	1000Genomes ExAC gnomAD
rs1440464161	270	E>G		No	gnomAD
rs1440464161 CA355114723	270	E>G		No	ClinGen gnomAD
rs777785180	270	E>Q		No	ExAC gnomAD
rs777785180 CA2672922	270	E>Q		No	ClinGen ExAC gnomAD
rs1443722956	271	P>L		No	gnomAD
rs1443722956 CA355114729	271	P>L		No	ClinGen gnomAD
CA2672923 rs753925169	271	P>S		No	ClinGen ExAC TOPMed gnomAD
rs753925169	271	P>S		No	ExAC TOPMed gnomAD
rs757399629	272	H>Q		No	ExAC gnomAD
rs757399629 CA2672924	272	H>Q		No	ClinGen ExAC gnomAD
CA355114741 rs1222443865	273	K>E		No	ClinGen gnomAD
rs1222443865	273	K>E		No	gnomAD
rs1309346446	274	R>K		No	gnomAD
rs1309346446 CA355114749	274	R>K		No	ClinGen gnomAD
rs1309346446 CA355114750	274	R>T		No	ClinGen gnomAD
rs1309346446	274	R>T		No	gnomAD
rs76130087 CA2672927	276	L>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs76130087	276	L>F		No	1000Genomes ExAC TOPMed gnomAD
rs1469920330	278	V>M		No	gnomAD
CA355114773 rs1469920330	278	V>M		No	ClinGen gnomAD
rs780886958	279	R>G		No	ExAC gnomAD
CA2672929 rs780886958	279	R>G		No	ClinGen ExAC gnomAD
COSM1040123 CA2672930 rs575256445 COSM1040121 COSM1040122	279	R>H	endometrium [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC gnomAD
rs575256445	279	R>H		No	1000Genomes ExAC gnomAD
CA355114785 rs1262873008	280	S>C		No	ClinGen TOPMed
rs1262873008	280	S>C		No	TOPMed
CA355114789 rs1178743257	280	S>R		No	ClinGen gnomAD
rs1178743257	280	S>R		No	gnomAD
rs769873708 CA2672931	281	M>V		No	ClinGen ExAC gnomAD
rs769873708	281	M>V		No	ExAC gnomAD
rs1576672272	282	V>A		No	Ensembl
rs1576672272 CA355114802	282	V>A		No	ClinGen Ensembl
rs376564073	282	V>L		No	ESP ExAC gnomAD
rs376564073 CA2672932	282	V>L		No	ClinGen ESP ExAC gnomAD
rs1162409549	283	E>K		No	gnomAD
CA355114806 rs1162409549	283	E>K		No	ClinGen gnomAD
CA2672933 rs762548034	284	G>D		No	ClinGen ExAC gnomAD
rs762548034	284	G>D		No	ExAC gnomAD
rs1419351053 CA355114812	284	G>S		No	ClinGen gnomAD
rs1419351053	284	G>S		No	gnomAD
CA355114825 rs1576672304	286	G>E		No	ClinGen Ensembl
rs1576672304	286	G>E		No	Ensembl
rs1354475483	286	G>R		No	gnomAD
rs1354475483 CA355114822	286	G>R		No	ClinGen gnomAD
rs1440383117	287	G>*		No	gnomAD
rs1440383117 CA355114830	287	G>*		No	ClinGen gnomAD
rs1440383117	287	G>R		No	gnomAD
rs1440383117 CA355114828	287	G>R		No	ClinGen gnomAD
rs770624898 CA2672934	288	P>L		No	ClinGen ExAC gnomAD
rs770624898	288	P>L		No	ExAC gnomAD
CA355114836 rs1374576887	288	P>S		No	ClinGen TOPMed gnomAD
rs1374576887	288	P>S		No	TOPMed gnomAD
rs1374576887	288	P>T		No	TOPMed gnomAD
rs1374576887 CA355114834	288	P>T		No	ClinGen TOPMed gnomAD
CA2672937 rs759154435	289	L>P		No	ClinGen ExAC TOPMed gnomAD
rs759154435	289	L>P		No	ExAC TOPMed gnomAD
rs759154435	289	L>Q		No	ExAC TOPMed gnomAD
CA2672936 rs759154435	289	L>Q		No	ClinGen ExAC TOPMed gnomAD
rs774033795	289	L>V		No	ExAC TOPMed gnomAD
rs774033795 CA355114840	289	L>V		No	ClinGen ExAC TOPMed gnomAD
rs1305701573 CA355114850	291	H>Y		No	ClinGen gnomAD
rs1305701573	291	H>Y		No	gnomAD
rs761189840	292	A>V		No	ExAC gnomAD
rs761189840 CA2672939	292	A>V		No	ClinGen ExAC gnomAD
rs764586646	293	G>V		No	ExAC gnomAD
CA2672940 rs764586646	293	G>V		No	ClinGen ExAC gnomAD
rs1047260146	294	E>G		No	TOPMed
rs1047260146 CA355114870	294	E>G		No	ClinGen TOPMed
CA85741484 rs1047260146	294	E>V		No	ClinGen TOPMed
rs1047260146	294	E>V		No	TOPMed
rs757313682	295	E>D		No	ExAC gnomAD
rs757313682 CA355114878	295	E>D		No	ClinGen ExAC gnomAD
rs754404920 CA2672941	295	E>K		No	ClinGen ExAC gnomAD
rs754404920	295	E>K		No	ExAC gnomAD
CA355114894 rs1169343122	297	E>D		No	ClinGen gnomAD
rs1169343122	297	E>D		No	gnomAD
rs767760029 CA355114906	299	D>G		No	ClinGen gnomAD
rs767760029	299	D>G		No	gnomAD
CA85741488 rs767760029	299	D>V		No	ClinGen gnomAD
rs767760029	299	D>V		No	gnomAD
rs1416849082	300	N>K		No	TOPMed gnomAD
CA355114916 rs1416849082	300	N>K		No	ClinGen TOPMed gnomAD
COSM1040124 rs903936492 COSM1040126 COSM1040125 CA85741491	301	D>N	endometrium [Cosmic]	No	ClinGen cosmic curated TOPMed
rs903936492	301	D>N		No	TOPMed
rs765346404 CA2672943	302	V>M		No	ClinGen ExAC gnomAD
rs765346404	302	V>M		No	ExAC gnomAD
rs1173228661	305	P>A		No	gnomAD
rs1173228661 CA355114945	305	P>A		No	ClinGen gnomAD
rs1355450812	305	P>L		No	TOPMed gnomAD
CA355114950 rs1355450812	305	P>L		No	ClinGen TOPMed gnomAD
rs750625968	306	G>A		No	ExAC gnomAD
CA2672944 rs750625968	306	G>A		No	ClinGen ExAC gnomAD
rs750625968	306	G>E		No	ExAC gnomAD
CA2672945 rs750625968	306	G>E		No	ClinGen ExAC gnomAD
rs1414587056	306	G>R		No	gnomAD
CA355114952 rs1414587056	306	G>R		No	ClinGen gnomAD
rs780991477	307	S>A		No	ExAC gnomAD
CA2672946 rs780991477	307	S>A		No	ClinGen ExAC gnomAD
rs370035369 CA355114958	307	S>C		No	ClinGen ESP TOPMed gnomAD
rs370035369	307	S>C		No	ESP TOPMed gnomAD
rs370035369	307	S>F		No	ESP TOPMed gnomAD
rs370035369 CA85741508	307	S>F		No	ClinGen ESP TOPMed gnomAD
rs747908710	309	R>L		No	ExAC TOPMed gnomAD
rs747908710 CA2672947	309	R>L		No	ClinGen ExAC TOPMed gnomAD
rs1216225430	310	R>K		No	gnomAD
rs1216225430 CA355114970	310	R>K		No	ClinGen gnomAD
CA2672949 rs777839865	312	L>F		No	ClinGen ExAC gnomAD
rs777839865	312	L>F		No	ExAC gnomAD
rs749289934 CA2672950	313	R>G		No	ClinGen ExAC TOPMed
rs749289934	313	R>G		No	ExAC TOPMed
CA2672951 rs770535113	315	T>M		No	ClinGen ExAC gnomAD
rs770535113	315	T>M		No	ExAC gnomAD
CA355115017 rs1485789516	318	R>C		No	ClinGen gnomAD
rs1485789516	318	R>C		No	gnomAD
rs557901822	318	R>H		No	1000Genomes ExAC TOPMed gnomAD
CA2672953 rs557901822	318	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs557901822	318	R>L		No	1000Genomes ExAC TOPMed gnomAD
CA355115019 rs557901822	318	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1239836407	320	A>E		No	TOPMed gnomAD
CA355115031 rs1239836407	320	A>E		No	ClinGen TOPMed gnomAD
rs1239836407 CA355115033	320	A>V		No	ClinGen TOPMed gnomAD
rs1239836407	320	A>V		No	TOPMed gnomAD
rs775860770 CA2672955	321	V>A		No	ClinGen ExAC gnomAD
rs775860770	321	V>A		No	ExAC gnomAD
rs1420881955	323	S>G		No	gnomAD
rs1420881955 CA355115046	323	S>G		No	ClinGen gnomAD
rs1480861991 CA355115050	323	S>I		No	ClinGen gnomAD
rs1480861991	323	S>I		No	gnomAD
rs1434432099 CA355115068	326	D>H		No	ClinGen TOPMed gnomAD
rs1434432099	326	D>H		No	TOPMed gnomAD
rs1434432099 CA355115067	326	D>N		No	ClinGen TOPMed gnomAD
rs1434432099	326	D>N		No	TOPMed gnomAD
rs572938340 CA2672956	327	F>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs572938340	327	F>S		No	1000Genomes ExAC TOPMed gnomAD
rs1377719546	328	D>E		No	gnomAD
CA355115089 rs1377719546	328	D>E		No	ClinGen gnomAD
rs764497151 CA2672957	329	S>I		No	ClinGen ExAC gnomAD
rs764497151	329	S>I		No	ExAC gnomAD
CA355115099 rs540564396	330	P>L		No	ClinGen 1000Genomes ExAC gnomAD
rs540564396	330	P>L		No	1000Genomes ExAC gnomAD
rs540564396	330	P>R		No	1000Genomes ExAC gnomAD
CA2672960 rs540564396	330	P>R		No	ClinGen 1000Genomes ExAC gnomAD
rs777096804 CA2672959	330	P>S		No	ClinGen ExAC gnomAD
rs777096804	330	P>S		No	ExAC gnomAD
rs777096804	330	P>T		No	ExAC gnomAD
rs777096804 CA2672958	330	P>T		No	ClinGen ExAC gnomAD
CA2672961 rs750490100	331	T>A		No	ClinGen ExAC gnomAD
rs750490100	331	T>A		No	ExAC gnomAD
rs758588282	331	T>I		No	ExAC TOPMed gnomAD
CA2672962 rs758588282	331	T>I		No	ClinGen ExAC TOPMed gnomAD
CA355115109 rs755952944	332	S>R		No	ClinGen ExAC gnomAD
rs755952944	332	S>R		No	ExAC gnomAD
rs751867119	332	S>T		No	ExAC gnomAD
rs751867119 CA2672964	332	S>T		No	ClinGen ExAC gnomAD
rs1328252815	333	S>L		No	TOPMed
CA355115114 rs1328252815	333	S>L		No	ClinGen TOPMed
CA85741584 rs899808579	334	K>N		No	ClinGen TOPMed gnomAD
rs899808579	334	K>N		No	TOPMed gnomAD
rs777753661 CA2672967	334	K>Q		No	ClinGen ExAC gnomAD
rs777753661	334	K>Q		No	ExAC gnomAD
rs1319465020 CA355115124	335	K>E		No	ClinGen gnomAD
rs1319465020	335	K>E		No	gnomAD
rs749200280	336	K>N		No	ExAC gnomAD
CA2672968 rs749200280	336	K>N		No	ClinGen ExAC gnomAD
rs757286136	338	R>S		No	ExAC TOPMed gnomAD
CA2672969 rs757286136	338	R>S		No	ClinGen ExAC TOPMed gnomAD
rs1463740590	339	M>I		No	TOPMed
CA355115158 rs1463740590	339	M>I		No	ClinGen TOPMed
rs1560035474	339	M>T		No	Ensembl
rs1560035474 CA355115156	339	M>T		No	ClinGen Ensembl
rs778432853	339	M>V		No	ExAC gnomAD
CA2672970 rs778432853	339	M>V		No	ClinGen ExAC gnomAD
rs1000804071	341	Q>H		No	TOPMed
CA85741594 rs1000804071	341	Q>H		No	ClinGen TOPMed
CA2672971 rs745378067	342	P>R		No	ClinGen ExAC TOPMed gnomAD
rs745378067	342	P>R		No	ExAC TOPMed gnomAD
rs555699610	343	V>I		No	1000Genomes
CA85741604 rs555699610	343	V>I		No	ClinGen 1000Genomes
rs1052363661 CA85741608	346	V>L		No	ClinGen TOPMed
rs1052363661	346	V>L		No	TOPMed
CA355115210 rs1254023076	348	M>I		No	ClinGen TOPMed
rs1254023076	348	M>I		No	TOPMed
rs372474018	348	M>L		No	ESP ExAC TOPMed gnomAD
rs372474018 CA2672972	348	M>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs375753893	348	M>T		No	ESP ExAC TOPMed gnomAD
CA2672973 rs375753893	348	M>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs372474018 CA85741625	348	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs372474018	348	M>V		No	ESP ExAC TOPMed gnomAD
rs371016104 CA2672975	350	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs371016104	350	D>G		No	ESP ExAC TOPMed gnomAD
rs371069494 CA2672978	351	K>R		No	ClinGen ExAC TOPMed gnomAD
rs371069494	351	K>R		No	ExAC TOPMed gnomAD
CA85741648 rs199951764	352	E>K		No	ClinGen 1000Genomes
rs199951764	352	E>K		No	1000Genomes
rs1238092646	353	K>*		No	TOPMed gnomAD
CA355115243 rs1238092646	353	K>*		No	ClinGen TOPMed gnomAD
rs765675256 CA355115246	353	K>M		No	ClinGen ExAC TOPMed gnomAD
rs765675256	353	K>M		No	ExAC TOPMed gnomAD
CA2672981 rs765675256	353	K>T		No	ClinGen ExAC TOPMed gnomAD
rs765675256	353	K>T		No	ExAC TOPMed gnomAD
rs1444380125	354	F>I		No	TOPMed
CA355115249 rs1444380125	354	F>I		No	ClinGen TOPMed
rs1353689082	355	S>T		No	TOPMed
rs1353689082 CA355115257	355	S>T		No	ClinGen TOPMed
rs1284710060	356	S>R		No	gnomAD
rs1576672918	356	S>R		No	Ensembl
CA355115269 rs1284710060	356	S>R		No	ClinGen gnomAD
CA355115263 rs1576672918	356	S>R		No	ClinGen Ensembl
CA85741660 rs1018525592	359	R>K		No	ClinGen gnomAD
rs1018525592	359	R>K		No	gnomAD
CA355115285 rs1018525592	359	R>M		No	ClinGen gnomAD
rs1018525592	359	R>M		No	gnomAD
CA2672983 rs574123818	360	I>L		No	ClinGen 1000Genomes ExAC gnomAD
rs574123818	360	I>L		No	1000Genomes ExAC gnomAD
rs368202288	360	I>M		No	ESP ExAC gnomAD
CA2672984 rs368202288	360	I>M		No	ClinGen ESP ExAC gnomAD
rs574123818	360	I>V		No	1000Genomes ExAC gnomAD
rs574123818 CA2672982	360	I>V		No	ClinGen 1000Genomes ExAC gnomAD
rs373831084	361	K>M		No	gnomAD
CA355115294 rs373831084	361	K>M		No	ClinGen gnomAD
rs779880869 COSM1040131 COSM1040130 CA85741685 COSM1040132	361	K>Q	endometrium [Cosmic]	No	ClinGen cosmic curated Ensembl
rs779880869	361	K>Q		No	Ensembl
rs373831084 CA85741688	361	K>R		No	ClinGen gnomAD
rs373831084	361	K>R		No	gnomAD
rs759778164 CA355115309	362	K>*		No	ClinGen ExAC TOPMed gnomAD
rs759778164	362	K>*		No	ExAC TOPMed gnomAD
rs759778164 CA2673021	362	K>E		No	ClinGen ExAC TOPMed gnomAD
rs759778164	362	K>E		No	ExAC TOPMed gnomAD
CA355115333 rs1167204309	365	L>V		No	ClinGen TOPMed gnomAD
rs1167204309	365	L>V		No	TOPMed gnomAD
rs1576674714 CA355115340	366	K>T		No	ClinGen Ensembl
rs1576674714	366	K>T		No	Ensembl
rs1166137862	367	G>R		No	gnomAD
CA355115345 rs1166137862	367	G>R		No	ClinGen gnomAD
rs1576674726 CA355115351	368	Q>K		No	ClinGen Ensembl
rs1576674726	368	Q>K		No	Ensembl
rs1410355824	372	D>V		No	TOPMed gnomAD
rs1410355824 CA355115384	372	D>V		No	ClinGen TOPMed gnomAD
CA85742454 rs867721735	373	G>V		No	ClinGen Ensembl
rs867721735	373	G>V		No	Ensembl
CA2673024 rs761496674	374	E>G		No	ClinGen ExAC TOPMed gnomAD
rs761496674	374	E>G		No	ExAC TOPMed gnomAD
rs866180740	375	E>*		No	TOPMed gnomAD
CA85742460 rs866180740	375	E>*		No	ClinGen TOPMed gnomAD
rs866180740 CA355115400	375	E>Q		No	ClinGen TOPMed gnomAD
rs866180740	375	E>Q		No	TOPMed gnomAD
rs759687570	376	N>D		No	ExAC TOPMed gnomAD
rs759687570 CA2673039	376	N>D		No	ClinGen ExAC TOPMed gnomAD
CA355115426 rs1192980051	377	A>P		No	ClinGen gnomAD
rs1192980051	377	A>P		No	gnomAD
CA355115431 rs1173616978	378	V>I		No	ClinGen Ensembl
rs1173616978	378	V>I		No	Ensembl
rs1576680626	379	L>V		No	Ensembl
rs1576680626 CA355115437	379	L>V		No	ClinGen Ensembl
rs772339917	382	N>T		No	ExAC gnomAD
rs772339917 CA2673040	382	N>T		No	ClinGen ExAC gnomAD
rs1176270837	383	Y>C		No	gnomAD
CA355115469 rs1176270837	383	Y>C		No	ClinGen gnomAD
rs1450918678 CA355115481	385	E>K		No	ClinGen gnomAD
rs1450918678	385	E>K		No	gnomAD
rs775828838	387	A>P		No	ExAC gnomAD
rs775828838 CA2673042	387	A>P		No	ClinGen ExAC gnomAD
rs775828838 CA355115498	387	A>S		No	ClinGen ExAC gnomAD
rs775828838	387	A>S		No	ExAC gnomAD
rs1325874696	390	I>V		No	gnomAD
CA355115518 rs1325874696	390	I>V		No	ClinGen gnomAD
rs764898548 CA2673044	392	S>C		No	ClinGen ExAC gnomAD
rs764898548	392	S>C		No	ExAC gnomAD
rs1236989063	392	S>P		No	gnomAD
CA355115533 rs1236989063	392	S>P		No	ClinGen gnomAD
rs762739266 CA2673046	393	D>G		No	ClinGen ExAC gnomAD
rs762739266	393	D>G		No	ExAC gnomAD
CA2673048 rs751565334	396	S>*		No	ClinGen ExAC gnomAD
rs751565334	396	S>*		No	ExAC gnomAD
rs1469600736	402	K>N		No	TOPMed gnomAD
CA355115607 rs1469600736	402	K>N		No	ClinGen TOPMed gnomAD
rs767054994 CA2673050	402	K>R		No	ClinGen ExAC gnomAD
rs767054994	402	K>R		No	ExAC gnomAD
CA355115620 rs1439723895	404	D>E		No	ClinGen gnomAD
rs1439723895	404	D>E		No	gnomAD
rs1576680760	404	D>G		No	Ensembl
CA355115618 rs1576680760	404	D>G		No	ClinGen Ensembl
CA2673051 rs752254191	404	D>N		No	ClinGen ExAC gnomAD
rs752254191	404	D>N		No	ExAC gnomAD
rs1249642392	406	K>E		No	TOPMed gnomAD
CA355115631 rs1249642392	406	K>E		No	ClinGen TOPMed gnomAD
CA355115638 rs1576680778	407	I>L		No	ClinGen Ensembl
rs1576680778	407	I>L		No	Ensembl
CA2673052 rs755814717	410	H>D		No	ClinGen ExAC TOPMed gnomAD
rs755814717	410	H>D		No	ExAC TOPMed gnomAD
rs777945173 CA2673053	410	H>P		No	ClinGen ExAC gnomAD
rs777945173	410	H>P		No	ExAC gnomAD
rs1412022524	410	H>Q		No	TOPMed gnomAD
CA355115663 rs1412022524	410	H>Q		No	ClinGen TOPMed gnomAD
rs1460495414	411	H>L		No	TOPMed gnomAD
rs1460495414 CA355115667	411	H>L		No	ClinGen TOPMed gnomAD
rs1460495414	411	H>R		No	TOPMed gnomAD
CA355115668 rs1460495414	411	H>R		No	ClinGen TOPMed gnomAD
rs749670829 CA2673054	412	K>E		No	ClinGen ExAC gnomAD
rs749670829	412	K>E		No	ExAC gnomAD
rs1439299929	413	P>S		No	gnomAD
rs1439299929 CA355115681	413	P>S		No	ClinGen gnomAD
rs779554378	416	S>F		No	ExAC gnomAD
CA2673057 rs779554378	416	S>F		No	ClinGen ExAC gnomAD
rs772243711	418	W>R		No	ExAC gnomAD
CA2673059 rs772243711	418	W>R		No	ClinGen ExAC gnomAD
rs768038426	420	Q>E		No	ExAC TOPMed gnomAD
rs768038426 CA2673060	420	Q>E		No	ClinGen ExAC TOPMed gnomAD
rs747148864 CA2673062	420	Q>H		No	ClinGen ExAC gnomAD
rs747148864	420	Q>H		No	ExAC gnomAD
rs1232073400 CA355115737	421	L>H		No	ClinGen gnomAD
rs1232073400	421	L>H		No	gnomAD
rs1052476146	422	S>F		No	Ensembl
CA85747155 rs1052476146	422	S>F		No	ClinGen Ensembl
rs201024945 CA355115747	423	A>G		No	ClinGen ExAC TOPMed gnomAD
rs201024945	423	A>G		No	ExAC TOPMed gnomAD
rs201024945 CA2673063	423	A>V		No	ClinGen ExAC TOPMed gnomAD
rs201024945	423	A>V		No	ExAC TOPMed gnomAD
rs1434318390	424	V>M		No	gnomAD
rs1434318390 CA355115769	424	V>M		No	ClinGen gnomAD
rs1486525916	426	R>T		No	TOPMed
CA355115786 rs1486525916	426	R>T		No	ClinGen TOPMed
rs1444302637 CA355115790	427	K>E		No	ClinGen TOPMed gnomAD
rs1444302637	427	K>E		No	TOPMed gnomAD
rs1244416147	428	G>R		No	TOPMed
rs1244416147 CA355115799	428	G>R		No	ClinGen TOPMed
rs1316891213	429	L>I		No	gnomAD
CA355115805 rs1316891213	429	L>I		No	ClinGen gnomAD
rs1311334522	430	S>C		No	gnomAD
rs1311334522 CA355115815	430	S>C		No	ClinGen gnomAD
CA85763878 rs375236105	431	Q>E		No	ClinGen ESP TOPMed
rs375236105	431	Q>E		No	ESP TOPMed
CA2673083 rs776899825	434	S>N		No	ClinGen ExAC TOPMed
rs776899825	434	S>N		No	ExAC TOPMed
rs1046339750	435	Q>E		No	Ensembl
CA85763891 rs1046339750	435	Q>E		No	ClinGen Ensembl
CA2673085 rs79743495	436	E>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs79743495	436	E>G		No	1000Genomes ExAC TOPMed gnomAD
rs748358997	436	E>K		No	ExAC gnomAD
CA2673084 rs748358997	436	E>K		No	ClinGen ExAC gnomAD
rs201260157	438	R>G		No	1000Genomes ExAC TOPMed gnomAD
CA2673086 rs201260157	438	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs759409043 CA2673087	438	R>T		No	ClinGen ExAC
rs759409043	438	R>T		No	ExAC
CA2673088 rs771999022	441	Q>*		No	ClinGen ExAC TOPMed
rs771999022	441	Q>*		No	ExAC TOPMed
CA85763917 rs771999022	441	Q>K		No	ClinGen ExAC TOPMed
rs771999022	441	Q>K		No	ExAC TOPMed
CA355115886 rs1301282858	441	Q>R		No	ClinGen TOPMed
rs1301282858	441	Q>R		No	TOPMed
CA355115894 rs1230588379	442	E>G		No	ClinGen TOPMed gnomAD
rs1230588379	442	E>G		No	TOPMed gnomAD
rs370233301	443	A>V		No	ESP ExAC gnomAD
rs370233301 CA2673106	443	A>V		No	ClinGen ESP ExAC gnomAD
rs1468275454	444	I>S		No	gnomAD
rs1468275454 CA355115918	444	I>S		No	ClinGen gnomAD
rs760565391	444	I>V		No	ExAC TOPMed gnomAD
rs760565391 CA2673107	444	I>V		No	ClinGen ExAC TOPMed gnomAD
CA85766192 rs867869129	446	E>*		No	ClinGen Ensembl
rs867869129	446	E>*		No	Ensembl
rs1248889368	447	V>I		No	gnomAD
CA355115935 rs1248889368	447	V>I		No	ClinGen gnomAD
CA355115947 rs776030783	448	I>M		No	ClinGen ExAC gnomAD
rs776030783	448	I>M		No	ExAC gnomAD
rs1158249023	448	I>T		No	gnomAD
CA355115945 rs1158249023	448	I>T		No	ClinGen gnomAD
rs1458903443	449	S>F		No	gnomAD
CA355115953 rs1458903443	449	S>F		No	ClinGen gnomAD
CA355115954 rs1159741047	450	S>T		No	ClinGen gnomAD
rs1159741047	450	S>T		No	gnomAD
rs1576709105 CA355115962	451	E>K		No	ClinGen Ensembl
rs1576709105	451	E>K		No	Ensembl
rs1438706218	452	H>Y		No	gnomAD
CA355115970 rs1438706218	452	H>Y		No	ClinGen gnomAD
rs1375334027	453	S>T		No	gnomAD
rs1375334027 CA355115976	453	S>T		No	ClinGen gnomAD
rs1331520968	454	Y>C		No	TOPMed gnomAD
rs1331520968 CA355115986	454	Y>C		No	ClinGen TOPMed gnomAD
rs750168533	455	L>F		No	ExAC gnomAD
CA2673112 rs750168533	455	L>F		No	ClinGen ExAC gnomAD
rs766703775	457	S>N		No	ExAC gnomAD
rs766703775 CA355116005	457	S>N		No	ClinGen ExAC gnomAD
rs766703775	457	S>T		No	ExAC gnomAD
CA2673114 rs766703775	457	S>T		No	ClinGen ExAC gnomAD
rs201282657	458	L>W		No	Ensembl
CA85766222 rs201282657	458	L>W		No	ClinGen Ensembl
CA85766228 rs931211580	462	I>L		No	ClinGen Ensembl
rs931211580	462	I>L		No	Ensembl
rs1269250406	462	I>M		No	gnomAD
rs1269250406 CA355116042	462	I>M		No	ClinGen gnomAD
rs1334766094	463	R>*		No	TOPMed gnomAD
rs1334766094 CA355116044	463	R>*		No	ClinGen TOPMed gnomAD
rs1334766094 CA355116043	463	R>G		No	ClinGen TOPMed gnomAD
rs1334766094	463	R>G		No	TOPMed gnomAD
rs562212403 CA355116045	463	R>L		No	ClinGen ExAC TOPMed gnomAD
rs562212403	463	R>L		No	ExAC TOPMed gnomAD
rs562212403	463	R>Q		No	ExAC TOPMed gnomAD
COSM1420088 CA2673115 COSM1420089 rs562212403 COSM1420087	463	R>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs755461547	469	K>E		No	ExAC gnomAD
rs755461547 CA2673116	469	K>E		No	ClinGen ExAC gnomAD
rs1452578102	470	E>G		No	gnomAD
rs1452578102 CA355116097	470	E>G		No	ClinGen gnomAD
rs1249901487	472	S>N		No	gnomAD
rs1249901487 CA355116111	472	S>N		No	ClinGen gnomAD
rs773121039	473	D>E		No	ExAC gnomAD
rs773121039 CA2673117	473	D>E		No	ClinGen ExAC gnomAD
rs1282080884 CA355116118	473	D>G		No	ClinGen TOPMed
rs1282080884	473	D>G		No	TOPMed
rs1182982639 CA355116125	474	T>I		No	ClinGen TOPMed gnomAD
rs1182982639	474	T>I		No	TOPMed gnomAD
CA355116133 rs1164974169	475	M>I		No	ClinGen gnomAD
rs1164974169	475	M>I		No	gnomAD
rs752776671 CA2673119	475	M>V		No	ClinGen ExAC gnomAD
rs752776671	475	M>V		No	ExAC gnomAD
CA355116155 rs1576709309	478	T>I		No	ClinGen Ensembl
rs1576709309	478	T>I		No	Ensembl
CA355116156 rs1326384789	479	E>K		No	ClinGen TOPMed gnomAD
rs1326384789	479	E>K		No	TOPMed gnomAD
CA355116173 rs1395279334	481	H>Y		No	ClinGen gnomAD
rs1395279334	481	H>Y		No	gnomAD
rs1332755393 CA355116182	482	H>R		No	ClinGen TOPMed
rs1332755393	482	H>R		No	TOPMed
CA355116204 rs1353061792	485	S>Y		No	ClinGen gnomAD
rs1353061792	485	S>Y		No	gnomAD
rs779750030	488	T>I		No	ExAC gnomAD
rs779750030 CA2673124	488	T>I		No	ClinGen ExAC gnomAD
rs1195593083	489	D>H		No	gnomAD
rs1195593083 CA355116229	489	D>H		No	ClinGen gnomAD
rs768494131	492	E>K		No	ExAC TOPMed gnomAD
CA2673126 rs768494131	492	E>K		No	ClinGen ExAC TOPMed gnomAD
rs776217579	495	K>R		No	ExAC gnomAD
CA2673127 rs776217579	495	K>R		No	ClinGen ExAC gnomAD
CA2673149 rs769397878	499	I>T		No	ClinGen ExAC gnomAD
rs769397878	499	I>T		No	ExAC gnomAD
rs956068222 CA85753215	499	I>V		No	ClinGen TOPMed gnomAD
rs956068222	499	I>V		No	TOPMed gnomAD
CA2673150 rs772871529	502	E>Q		No	ClinGen ExAC gnomAD
rs772871529	502	E>Q		No	ExAC gnomAD
rs1436295519	503	A>V		No	gnomAD
CA355117347 rs1436295519	503	A>V		No	ClinGen gnomAD
rs779493610	504	R>S		No	Ensembl
CA85753230 rs779493610	504	R>S		No	ClinGen Ensembl
rs1476612651	505	H>Q		No	gnomAD
rs1476612651 CA355117369	505	H>Q		No	ClinGen gnomAD
rs770493001 CA2673152	505	H>R		No	ClinGen ExAC TOPMed gnomAD
rs770493001	505	H>R		No	ExAC TOPMed gnomAD
rs748912005 CA2673151	505	H>Y		No	ClinGen ExAC gnomAD
rs748912005	505	H>Y		No	ExAC gnomAD
rs774117651	507	N>S		No	ExAC TOPMed gnomAD
CA2673153 rs774117651	507	N>S		No	ClinGen ExAC TOPMed gnomAD
rs759804204 CA2673154	509	I>T		No	ClinGen ExAC TOPMed gnomAD
rs759804204	509	I>T		No	ExAC TOPMed gnomAD
CA2673155 rs561487483	511	I>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs561487483	511	I>L		No	1000Genomes ExAC TOPMed gnomAD
rs775941680	511	I>R		No	ExAC gnomAD
rs775941680 CA2673156	511	I>R		No	ClinGen ExAC gnomAD
rs775941680	511	I>T		No	ExAC gnomAD
COSM1420098 CA2673157 COSM1420099 COSM1420097 rs775941680	511	I>T	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1192765759	512	D>Y		No	gnomAD
CA355117413 rs1192765759	512	D>Y		No	ClinGen gnomAD
rs1201797796	513	D>G		No	TOPMed
rs1201797796 CA355117423	513	D>G		No	ClinGen TOPMed
rs1265074941	514	I>L		No	gnomAD
CA355117429 rs1265074941	514	I>L		No	ClinGen gnomAD
CA2673159 rs753931512	514	I>M		No	ClinGen ExAC TOPMed gnomAD
rs753931512	514	I>M		No	ExAC TOPMed gnomAD
CA355117428 rs1265074941	514	I>V		No	ClinGen gnomAD
rs1265074941	514	I>V		No	gnomAD
rs1055001542 CA85753332	516	D>V		No	ClinGen TOPMed
rs1055001542	516	D>V		No	TOPMed
rs543945754 CA85753338	517	I>T		No	ClinGen 1000Genomes TOPMed gnomAD
rs543945754	517	I>T		No	1000Genomes TOPMed gnomAD
rs1455210038	519	E>A		No	gnomAD
CA355117463 rs1455210038	519	E>A		No	ClinGen gnomAD
CA2673161 rs757436159	523	A>T		No	ClinGen ExAC gnomAD
rs757436159	523	A>T		No	ExAC gnomAD
rs1293296294 CA355117499	524	S>F		No	ClinGen gnomAD
rs1293296294	524	S>F		No	gnomAD
CA2673162 rs765375391	524	S>P		No	ClinGen ExAC gnomAD
rs765375391	524	S>P		No	ExAC gnomAD
CA355117501 rs1365994818	525	T>A		No	ClinGen gnomAD
rs1365994818	525	T>A		No	gnomAD
CA355117559 rs1382735944	533	C>R		No	ClinGen gnomAD
rs1382735944	533	C>R		No	gnomAD
rs1367200046	536	E>D		No	TOPMed
rs1367200046 CA355117587	536	E>D		No	ClinGen TOPMed
rs1270163742	541	R>*		No	gnomAD
CA355117619 rs1270163742	541	R>*		No	ClinGen gnomAD
COSM1040150 rs754708272 COSM1040148 COSM1040149 CA2673165	541	R>Q	lung endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed
rs754708272	541	R>Q		No	ExAC TOPMed
rs1329760302	542	T>A		No	gnomAD
CA355117623 rs1329760302	542	T>A		No	ClinGen gnomAD
rs1324729094 CA355117627	542	T>I		No	ClinGen TOPMed
rs1324729094	542	T>I		No	TOPMed
rs1213043533	543	L>V		No	TOPMed gnomAD
rs1213043533 CA355117629	543	L>V		No	ClinGen TOPMed gnomAD
rs371024652	546	L>*		No	1000Genomes ESP ExAC TOPMed gnomAD
CA2673166 rs371024652	546	L>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs756038773	548	A>G		No	ExAC gnomAD
CA2673185 rs756038773	548	A>G		No	ClinGen ExAC gnomAD
CA2673186 rs368352739	550	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs368352739	550	N>S		No	ESP ExAC TOPMed gnomAD
CA85757121 rs780827388	554	K>Q		No	ClinGen Ensembl
rs780827388	554	K>Q		No	Ensembl
rs964303155	555	E>D		No	TOPMed gnomAD
CA85757140 rs964303155	555	E>D		No	ClinGen TOPMed gnomAD
rs756688472 CA2673189	556	V>I		No	ClinGen ExAC TOPMed
rs756688472	556	V>I		No	ExAC TOPMed
rs756688472 CA355118403	556	V>L		No	ClinGen ExAC TOPMed
rs756688472	556	V>L		No	ExAC TOPMed
rs1353017243 CA355118430	558	S>L		No	ClinGen TOPMed
rs1353017243	558	S>L		No	TOPMed
CA355118425 rs1296574692	558	S>P		No	ClinGen gnomAD
rs1296574692	558	S>P		No	gnomAD
rs1230111330 CA355118436	559	R>K		No	ClinGen gnomAD
rs1230111330	559	R>K		No	gnomAD
rs771729195	559	R>S		No	ExAC gnomAD
rs771729195 CA2673192	559	R>S		No	ClinGen ExAC gnomAD
rs1230111330 CA355118438	559	R>T		No	ClinGen gnomAD
rs1230111330	559	R>T		No	gnomAD
rs780333937 CA2673193	560	I>T		No	ClinGen ExAC gnomAD
rs780333937	560	I>T		No	ExAC gnomAD
rs1235617939	562	S>F		No	TOPMed
CA355118476 rs1235617939	562	S>F		No	ClinGen TOPMed
rs1238757801 CA355118479	563	H>D		No	ClinGen gnomAD
rs1238757801	563	H>D		No	gnomAD
rs769069545	563	H>R		No	ExAC TOPMed gnomAD
rs769069545 CA2673195	563	H>R		No	ClinGen ExAC TOPMed gnomAD
rs1403456528	566	C>Y		No	TOPMed
rs1403456528 CA355118528	566	C>Y		No	ClinGen TOPMed
CA355118562 COSM206941 rs1170654348	568	N>S	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1170654348	568	N>S		No	gnomAD
CA355118586 rs1299288301	570	P>A		No	ClinGen TOPMed
rs1299288301	570	P>A		No	TOPMed
rs1299288301 CA355118585	570	P>T		No	ClinGen TOPMed
rs1299288301	570	P>T		No	TOPMed
CA355118672 rs1414186703	576	I>V		No	ClinGen gnomAD
rs1414186703	576	I>V		No	gnomAD
rs1432249221 CA355118707	579	M>L		No	ClinGen gnomAD
rs1432249221	579	M>L		No	gnomAD
rs762425604 CA2673197	582	V>M		No	ClinGen ExAC gnomAD
rs762425604	582	V>M		No	ExAC gnomAD
CA2673199 rs558736327	584	R>C		No	ClinGen 1000Genomes ExAC gnomAD
rs558736327	584	R>C		No	1000Genomes ExAC gnomAD
rs558736327	584	R>S		No	1000Genomes ExAC gnomAD
CA355118776 rs558736327	584	R>S		No	ClinGen 1000Genomes ExAC gnomAD
rs766703160	586	P>S		No	ExAC gnomAD
rs766703160 CA2673201	586	P>S		No	ClinGen ExAC gnomAD
rs145791918	589	M>I		No	1000Genomes ESP ExAC TOPMed gnomAD
rs145791918 CA2673203	589	M>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs918886280 CA85757261	589	M>L		No	ClinGen gnomAD
rs918886280	589	M>L		No	gnomAD
CA2673202 rs751886017	589	M>T		No	ClinGen ExAC gnomAD
rs751886017	589	M>T		No	ExAC gnomAD
rs918886280	589	M>V		No	gnomAD
CA355118820 rs918886280	589	M>V		No	ClinGen gnomAD
CA355118830 rs1280086948	590	D>V		No	ClinGen TOPMed gnomAD
rs1280086948	590	D>V		No	TOPMed gnomAD
rs1248689797	591	T>S		No	gnomAD
rs1248689797 CA355119382	591	T>S		No	ClinGen gnomAD
CA2673223 rs146072099	592	I>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs146072099	592	I>M		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1478515523	592	I>T		No	gnomAD
CA355119390 rs1478515523	592	I>T		No	ClinGen gnomAD
CA2673224 rs572785867	593	C>S		No	ClinGen 1000Genomes ExAC gnomAD
rs572785867	593	C>S		No	1000Genomes ExAC gnomAD
rs1159857039 CA355119401	594	Q>*		No	ClinGen gnomAD
rs1159857039	594	Q>*		No	gnomAD
rs1403406795 CA355119417	596	T>A		No	ClinGen gnomAD
rs1403406795	596	T>A		No	gnomAD
CA2673227 rs757884628	598	K>E		No	ClinGen ExAC gnomAD
rs757884628	598	K>E		No	ExAC gnomAD
CA355119441 rs1246654371	599	D>E		No	ClinGen TOPMed
rs1246654371	599	D>E		No	TOPMed
rs765915422	599	D>G		No	ExAC gnomAD
rs765915422 CA2673228	599	D>G		No	ClinGen ExAC gnomAD
rs754682447	601	P>L		No	ExAC TOPMed gnomAD
CA2673230 rs754682447	601	P>L		No	ClinGen ExAC TOPMed gnomAD
rs751175100	601	P>S		No	ExAC gnomAD
COSM226091 rs751175100 CA2673229	601	P>S	NS [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1280672153	603	Y>H		No	TOPMed gnomAD
rs1280672153 CA355119460	603	Y>H		No	ClinGen TOPMed gnomAD
rs1280672153 CA355119462	603	Y>N		No	ClinGen TOPMed gnomAD
rs1280672153	603	Y>N		No	TOPMed gnomAD
rs1208440139 CA355119472	604	E>G		No	ClinGen gnomAD
rs1208440139	604	E>G		No	gnomAD
rs1308714065 CA355119479	605	V>A		No	ClinGen TOPMed
rs1308714065	605	V>A		No	TOPMed
CA2673232 rs748541768	605	V>I		No	ClinGen ExAC gnomAD
rs748541768	605	V>I		No	ExAC gnomAD
rs756492851	606	C>*		No	ExAC gnomAD
rs756492851 CA2673233	606	C>*		No	ClinGen ExAC gnomAD
rs778320272 CA2673234	607	K>R		No	ClinGen ExAC TOPMed gnomAD
rs778320272	607	K>R		No	ExAC TOPMed gnomAD
rs749851646	609	A>D		No	ExAC gnomAD
CA2673235 rs749851646	609	A>D		No	ClinGen ExAC gnomAD
rs749851646	609	A>V		No	ExAC gnomAD
COSM1040154 CA355119506 COSM1040155 rs749851646 COSM1040156	609	A>V	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs765989972 CA2673236	610	L>V		No	ClinGen ExAC TOPMed gnomAD
rs765989972	610	L>V		No	ExAC TOPMed gnomAD
rs1182361846	612	E>K		No	gnomAD
CA355119521 rs1182361846	612	E>K		No	ClinGen gnomAD
CA2673238 rs746026158	615	K>M		No	ClinGen ExAC TOPMed gnomAD
rs746026158	615	K>M		No	ExAC TOPMed gnomAD
rs746026158 CA85760414	615	K>T		No	ClinGen ExAC TOPMed gnomAD
rs746026158	615	K>T		No	ExAC TOPMed gnomAD
rs745959798	617	V>F		No	ExAC gnomAD
CA2673258 rs745959798	617	V>F		No	ClinGen ExAC gnomAD
rs772105688 CA355120991	618	R>*		No	ClinGen ExAC gnomAD
rs772105688	618	R>*		No	ExAC gnomAD
rs772105688	618	R>G		No	ExAC gnomAD
rs772105688 CA2673259	618	R>G		No	ClinGen ExAC gnomAD
CA2673261 rs747238841	618	R>P		No	ClinGen ExAC TOPMed gnomAD
rs747238841	618	R>P		No	ExAC TOPMed gnomAD
CA355120992 rs747238841	618	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs747238841	618	R>Q		No	ExAC TOPMed gnomAD
rs769593116	619	L>R		No	ExAC
rs769593116 CA2673262	619	L>R		No	ClinGen ExAC
CA355121010 rs576107579	621	N>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs576107579	621	N>I		No	1000Genomes ExAC TOPMed gnomAD
rs576107579	621	N>S		No	1000Genomes ExAC TOPMed gnomAD
CA2673264 rs576107579	621	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA355121009 rs576107579	621	N>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs576107579	621	N>T		No	1000Genomes ExAC TOPMed gnomAD
rs1263696287	623	G>D		No	gnomAD
rs1263696287 CA355121024	623	G>D		No	ClinGen gnomAD
rs774329182 CA2673266	624	A>T		No	ClinGen ExAC TOPMed gnomAD
rs774329182	624	A>T		No	ExAC TOPMed gnomAD
rs369844268 CA2673267	624	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs369844268	624	A>V		No	ESP ExAC TOPMed gnomAD
rs766974682	625	R>G		No	ExAC TOPMed gnomAD
rs766974682 COSM1040160 CA2673269 COSM1040162 COSM1040161	625	R>G	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs374617836 CA2673270	625	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs374617836	625	R>Q		No	ESP ExAC TOPMed gnomAD
CA355121031 rs766974682	625	R>W		No	ClinGen ExAC TOPMed gnomAD
rs766974682	625	R>W		No	ExAC TOPMed gnomAD
rs1467144068 CA355121071	630	T>I		No	ClinGen gnomAD
rs1467144068	630	T>I		No	gnomAD
rs202135882	633	M>I		No	TOPMed gnomAD
rs202135882 CA85776569	633	M>I		No	ClinGen TOPMed gnomAD
rs1179125379 CA355121094	633	M>R		No	ClinGen gnomAD
rs1179125379	633	M>R		No	gnomAD
rs1457231190	634	Y>C		No	TOPMed gnomAD
rs1457231190 CA355121101	634	Y>C		No	ClinGen TOPMed gnomAD
rs370975987 CA85776570	636	I>V		No	ClinGen ESP TOPMed gnomAD
rs370975987	636	I>V		No	ESP TOPMed gnomAD
rs375073496	637	N>D		No	ESP ExAC gnomAD
CA2673272 rs375073496	637	N>D		No	ClinGen ESP ExAC gnomAD
rs1329360019	638	S>C		No	gnomAD
rs1329360019 CA355121128	638	S>C		No	ClinGen gnomAD
CA355121129 rs1329360019	638	S>F		No	ClinGen gnomAD
rs1329360019	638	S>F		No	gnomAD
CA2673275 rs750943264	644	I>M		No	ClinGen ExAC gnomAD
rs750943264	644	I>M		No	ExAC gnomAD
rs1284081558 CA355121169	644	I>V		No	ClinGen gnomAD
rs1284081558	644	I>V		No	gnomAD
rs760306585	648	P>A		No	ExAC gnomAD
rs760306585 CA2673288	648	P>A		No	ClinGen ExAC gnomAD
rs774202031	648	P>R		No	Ensembl
rs774202031 CA85777469	648	P>R		No	ClinGen Ensembl
rs762249413	651	S>T		No	ExAC gnomAD
rs762249413 CA2673291	651	S>T		No	ClinGen ExAC gnomAD
rs765741654	653	S>F		No	ExAC gnomAD
CA2673292 rs765741654	653	S>F		No	ClinGen ExAC gnomAD
rs750905487	654	R>Q		No	ExAC TOPMed gnomAD
rs750905487 CA2673293	654	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1024615358	654	R>W		No	TOPMed gnomAD
rs1024615358 CA85777470	654	R>W		No	ClinGen TOPMed gnomAD
rs368220552	655	W>*		No	ESP TOPMed gnomAD
CA85777471 rs368220552	655	W>*		No	ClinGen ESP TOPMed gnomAD
rs368220552	655	W>C		No	ESP TOPMed gnomAD
CA355122482 rs368220552	655	W>C		No	ClinGen ESP TOPMed gnomAD
rs1426737247 CA355122480	655	W>L		No	ClinGen gnomAD
rs1426737247	655	W>L		No	gnomAD
rs766424425	658	K>E		No	ExAC gnomAD
rs766424425 CA2673295	658	K>E		No	ClinGen ExAC gnomAD
rs1441020963	659	R>T		No	TOPMed
rs1441020963 CA355122527	659	R>T		No	ClinGen TOPMed
rs371969250 CA2673296	660	G>D		No	ClinGen ESP ExAC gnomAD
rs371969250	660	G>D		No	ESP ExAC gnomAD
rs781369445	661	E>D		No	ExAC TOPMed gnomAD
rs781369445 CA2673298	661	E>D		No	ClinGen ExAC TOPMed gnomAD
rs374889592	665	Y>C		No	ESP TOPMed gnomAD
CA85777472 rs374889592	665	Y>C		No	ClinGen ESP TOPMed gnomAD
rs757005704 CA2673300	666	V>I		No	ClinGen ExAC gnomAD
rs757005704	666	V>I		No	ExAC gnomAD
rs369225760 CA85777473	669	T>S		No	ClinGen ESP TOPMed gnomAD
rs369225760	669	T>S		No	ESP TOPMed gnomAD
CA355122671 rs1206680280	671	L>F		No	ClinGen gnomAD
rs1206680280	671	L>F		No	gnomAD
rs1284400796	671	L>P		No	TOPMed
rs1284400796 CA355122676	671	L>P		No	ClinGen TOPMed
rs372216462	674	R>S		No	ESP
rs372216462 CA85777474	674	R>S		No	ClinGen ESP
rs775562063	675	R>S		No	ExAC TOPMed gnomAD
rs775562063 CA2673305	675	R>S		No	ClinGen ExAC TOPMed gnomAD
CA355122760 rs1254443871	678	K>N		No	ClinGen gnomAD
rs1254443871	678	K>N		No	gnomAD
rs1181835162	678	K>R		No	gnomAD
rs1181835162 CA355122757	678	K>R		No	ClinGen gnomAD
rs1319409079 CA355122767	679	Q>*		No	ClinGen Ensembl
rs1319409079	679	Q>*		No	Ensembl
rs369296020 CA2673308	681	V>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs369296020	681	V>A		No	1000Genomes ESP ExAC TOPMed gnomAD
rs776394455	681	V>F		No	ExAC gnomAD
rs776394455 CA355122798	681	V>F		No	ClinGen ExAC gnomAD
rs369296020	681	V>G		No	1000Genomes ESP ExAC TOPMed gnomAD
rs369296020 CA355122802	681	V>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs776394455	681	V>L		No	ExAC gnomAD
rs776394455 CA2673307	681	V>L		No	ClinGen ExAC gnomAD
CA2673309 rs765651856	683	F>Y		No	ClinGen ExAC gnomAD
rs765651856	683	F>Y		No	ExAC gnomAD
rs761708208	684	F>L		No	Ensembl
rs761708208 CA85777475	684	F>L		No	ClinGen Ensembl
rs74965475 CA2673310	687	N>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs74965475	687	N>K		No	1000Genomes ESP ExAC TOPMed gnomAD
rs377732491 COSM728645 COSM728646 COSM728644 CA2673312	688	D>N	lung [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs377732491	688	D>N		No	ESP ExAC TOPMed gnomAD
CA2673314 rs755017593	690	L>V		No	ClinGen ExAC gnomAD
rs755017593	690	L>V		No	ExAC gnomAD
rs971954780 CA85777476	692	I>V		No	ClinGen gnomAD
rs971954780	692	I>V		No	gnomAD
rs1401233141	697	S>N		No	TOPMed gnomAD
rs1401233141 CA355123027	697	S>N		No	ClinGen TOPMed gnomAD
CA355116317 rs1267843662	699	E>D		No	ClinGen gnomAD
rs1267843662	699	E>D		No	gnomAD
rs774798454	700	S>G		No	ExAC gnomAD
CA2673330 rs774798454	700	S>G		No	ClinGen ExAC gnomAD
rs376028074 CA2673331	700	S>N		No	ClinGen ESP ExAC TOPMed
rs376028074	700	S>N		No	ESP ExAC TOPMed
CA355116331 rs1173042410	701	Y>*		No	ClinGen TOPMed
rs1173042410	701	Y>*		No	TOPMed
rs199620969	702	N>S		No	1000Genomes ESP ExAC TOPMed gnomAD
rs199620969 CA2673332	702	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM274038 rs571135932 CA2673334 COSM274037	703	V>I	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC gnomAD
rs571135932	703	V>I		No	1000Genomes ExAC gnomAD
rs764206337	704	N>H		No	ExAC TOPMed gnomAD
rs764206337 CA2673335	704	N>H		No	ClinGen ExAC TOPMed gnomAD
rs754135588	704	N>S		No	ExAC gnomAD
CA2673336 rs754135588	704	N>S		No	ClinGen ExAC gnomAD
CA355116362 rs1478304137	706	Y>C		No	ClinGen TOPMed
rs1478304137	706	Y>C		No	TOPMed
CA2673337 rs758100321	706	Y>H		No	ClinGen ExAC
rs758100321	706	Y>H		No	ExAC
rs528765217 CA2673338	707	S>A		No	ClinGen 1000Genomes ExAC gnomAD
rs528765217	707	S>A		No	1000Genomes ExAC gnomAD
CA2673339 rs751497705	708	L>V		No	ClinGen ExAC gnomAD
rs751497705	708	L>V		No	ExAC gnomAD
rs754983499	714	V>A		No	ExAC gnomAD
CA2673341 rs754983499	714	V>A		No	ClinGen ExAC gnomAD
rs780783816	715	E>D		No	ExAC gnomAD
rs780783816 CA2673342	715	E>D		No	ClinGen ExAC gnomAD
CA2673344 rs374465573	720	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs374465573	720	E>K		No	ESP ExAC TOPMed gnomAD
CA355116463 rs1345622094	721	E>*		No	ClinGen TOPMed gnomAD
rs1345622094	721	E>*		No	TOPMed gnomAD
rs982198795 CA85745261	721	E>D		No	ClinGen Ensembl
rs982198795	721	E>D		No	Ensembl
CA2673345 rs777270797	722	L>R		No	ClinGen ExAC TOPMed gnomAD
rs777270797	722	L>R		No	ExAC TOPMed gnomAD
rs368706134	725	S>P		No	1000Genomes ESP ExAC TOPMed gnomAD
rs368706134 CA2673347	725	S>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs990637211	726	P>S		No	TOPMed
rs990637211 CA85745276	726	P>S		No	ClinGen TOPMed
rs759965102	727	G>E		No	ExAC gnomAD
CA2673349 rs759965102	727	G>E		No	ClinGen ExAC gnomAD
rs1210624088 CA355116498	727	G>R		No	ClinGen TOPMed gnomAD
rs1210624088	727	G>R		No	TOPMed gnomAD
rs535967925	728	K>M		No	1000Genomes ExAC gnomAD
rs535967925 CA2673350	728	K>M		No	ClinGen 1000Genomes ExAC gnomAD
rs1219914102 CA355116529	731	S>F		No	ClinGen TOPMed
rs1219914102	731	S>F		No	TOPMed
CA355116544 rs1409649362	733	M>I		No	ClinGen gnomAD
rs1409649362	733	M>I		No	gnomAD
rs1409649362 CA355116542	733	M>I		No	ClinGen gnomAD
rs1409649362	733	M>I		No	gnomAD
rs1181295543	733	M>T		No	gnomAD
CA355116540 rs1181295543	733	M>T		No	ClinGen gnomAD
rs372309748	733	M>V		No	ESP ExAC gnomAD
CA2673352 rs372309748	733	M>V		No	ClinGen ESP ExAC gnomAD
rs184411740	734	L>I		No	1000Genomes ESP ExAC TOPMed gnomAD
CA2673353 rs184411740	734	L>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs946798020	734	L>P		No	Ensembl
CA85745295 rs946798020	734	L>P		No	ClinGen Ensembl
rs1412863370	735	Y>H		No	gnomAD
CA355116550 rs1412863370	735	Y>H		No	ClinGen gnomAD
CA85745302 rs565065435	737	R>S		No	ClinGen Ensembl
rs565065435	737	R>S		No	Ensembl
rs751405553 CA2673357	739	S>I		No	ClinGen ExAC TOPMed gnomAD
rs751405553	739	S>I		No	ExAC TOPMed gnomAD
rs751405553	739	S>N		No	ExAC TOPMed gnomAD
rs751405553 CA355116580	739	S>N		No	ClinGen ExAC TOPMed gnomAD
rs199964098	742	S>C		No	Ensembl
CA85745339 rs199964098	742	S>C		No	ClinGen Ensembl
rs1413905182	742	S>N		No	TOPMed
CA355116600 rs1413905182	742	S>N		No	ClinGen TOPMed
rs559758938 CA2673358	743	H>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs559758938	743	H>R		No	1000Genomes ExAC TOPMed gnomAD
rs1334502000	744	L>V		No	gnomAD
rs1334502000 CA355116612	744	L>V		No	ClinGen gnomAD
CA85745361 rs998200190	745	F>V		No	ClinGen TOPMed gnomAD
rs998200190	745	F>V		No	TOPMed gnomAD
CA355116630 rs1356113916	747	L>V		No	ClinGen gnomAD
rs1356113916	747	L>V		No	gnomAD
rs1294241019 CA355116637	748	T>I		No	ClinGen gnomAD
rs1294241019	748	T>I		No	gnomAD
rs777363338	750	L>H		No	ExAC gnomAD
CA2673362 rs777363338	750	L>H		No	ClinGen ExAC gnomAD
rs71684999	750	L>T		No	gnomAD
CA547367752 rs71684999	750	L>T		No	ClinGen gnomAD
rs933975407	750	L>V		No	Ensembl
rs933975407 CA85745393	750	L>V		No	ClinGen Ensembl
rs770620320	751	S>N		No	ExAC TOPMed gnomAD
CA85745408 rs770620320	751	S>N		No	ClinGen ExAC TOPMed gnomAD
rs770620320	751	S>T		No	ExAC TOPMed gnomAD
rs770620320 CA2673364	751	S>T		No	ClinGen ExAC TOPMed gnomAD
rs760809133	754	A>S		No	gnomAD
CA355116673 rs760809133	754	A>S		No	ClinGen gnomAD
rs760809133	754	A>T		No	gnomAD
COSM3004362 CA85745427 COSM3004361 rs760809133	754	A>T	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated gnomAD
rs376134635 CA2673366	754	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs376134635	754	A>V		No	ESP ExAC TOPMed gnomAD
rs1165024883 CA355116685	756	E>Q		No	ClinGen gnomAD
rs1165024883	756	E>Q		No	gnomAD
rs1428780683	758	V>A		No	gnomAD
CA355116704 rs1428780683	758	V>A		No	ClinGen gnomAD
rs1385458348	758	V>M		No	gnomAD
rs1385458348 CA355116700	758	V>M		No	ClinGen gnomAD
rs371689514 CA85745473	761	L>V		No	ClinGen ESP
rs371689514	761	L>V		No	ESP
rs768573483 CA2673370	766	T>M		No	ClinGen ExAC TOPMed gnomAD
rs768573483	766	T>M		No	ExAC TOPMed gnomAD
rs898690677	767	Q>*		No	Ensembl
rs898690677 CA85745487	767	Q>*		No	ClinGen Ensembl
rs761878898	767	Q>R		No	ExAC TOPMed gnomAD
CA2673372 rs761878898	767	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs775359695	768	S>R		No	ExAC TOPMed gnomAD
rs775359695 CA2673397	768	S>R		No	ClinGen ExAC TOPMed gnomAD
rs1455139623	769	E>G		No	TOPMed
CA355117682 rs1455139623	769	E>G		No	ClinGen TOPMed
rs551411802	769	E>K		No	ExAC TOPMed gnomAD
rs551411802 CA2673399	769	E>K		No	ClinGen ExAC TOPMed gnomAD
rs551411802 CA2673398	769	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs551411802	769	E>Q		No	ExAC TOPMed gnomAD
CA2673400 rs753764468	770	R>G		No	ClinGen ExAC TOPMed gnomAD
rs753764468	770	R>G		No	ExAC TOPMed gnomAD
rs756726624	770	R>L		No	ExAC TOPMed gnomAD
CA2673402 rs756726624	770	R>L		No	ClinGen ExAC TOPMed gnomAD
rs756726624	770	R>Q		No	ExAC TOPMed gnomAD
CA2673401 rs756726624	770	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA85756252 rs543546384	771	A>T		No	ClinGen 1000Genomes
rs543546384	771	A>T		No	1000Genomes
rs750030668 CA2673403	771	A>V		No	ClinGen ExAC gnomAD
rs750030668	771	A>V		No	ExAC gnomAD
rs758062526 CA2673404	772	R>C		No	ClinGen ExAC TOPMed gnomAD
rs758062526	772	R>C		No	ExAC TOPMed gnomAD
rs1322946849	772	R>H		No	gnomAD
rs1322946849 CA355117694	772	R>H		No	ClinGen gnomAD
rs1322946849 CA355117695	772	R>P		No	ClinGen gnomAD
rs1322946849	772	R>P		No	gnomAD
CA355117702 rs1225221307	773	W>*		No	ClinGen gnomAD
rs1225221307	773	W>*		No	gnomAD
rs369792554	774	I>M		No	ESP ExAC TOPMed gnomAD
CA2673407 rs369792554	774	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs375540878 CA2673406	774	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs375540878	774	I>V		No	ESP ExAC TOPMed gnomAD
rs1236611691	776	A>V		No	gnomAD
rs1236611691 CA355117722	776	A>V		No	ClinGen gnomAD
rs1281970940	778	G>R		No	TOPMed
CA355117728 rs1281970940	778	G>R		No	ClinGen TOPMed
rs531919927	779	H>R		No	ExAC TOPMed gnomAD
CA2673408 rs531919927	779	H>R		No	ClinGen ExAC TOPMed gnomAD
rs1208897754	781	S>G		No	gnomAD
CA355117751 rs1208897754	781	S>G		No	ClinGen gnomAD
rs372751572	781	S>N		No	ESP ExAC gnomAD
CA2673410 rs372751572	781	S>N		No	ClinGen ESP ExAC gnomAD
rs1208897754	781	S>R		No	gnomAD
CA355117750 rs1208897754	781	S>R		No	ClinGen gnomAD
rs778010970	782	G>A		No	ExAC TOPMed gnomAD
CA2673412 rs778010970	782	G>A		No	ClinGen ExAC TOPMed gnomAD
rs769955658	782	G>R		No	ExAC gnomAD
rs769955658 CA2673411	782	G>R		No	ClinGen ExAC gnomAD
rs749453903	784	P>L		No	ExAC TOPMed gnomAD
rs749453903 CA2673413	784	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1271239390	785	P>L		No	gnomAD
rs1271239390 CA355117785	785	P>L		No	ClinGen gnomAD
CA2673414 rs771272918	786	A>V		No	ClinGen ExAC gnomAD
rs771272918	786	A>V		No	ExAC gnomAD
rs1365960237	788	R>*		No	gnomAD
rs1365960237 CA355117815	788	R>*		No	ClinGen gnomAD
rs774495050	788	R>L		No	ExAC TOPMed gnomAD
CA355117820 rs774495050	788	R>L		No	ClinGen ExAC TOPMed gnomAD
rs774495050	788	R>P		No	ExAC TOPMed gnomAD
CA355117818 rs774495050	788	R>P		No	ClinGen ExAC TOPMed gnomAD
rs774495050 CA2673415	788	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs774495050	788	R>Q		No	ExAC TOPMed gnomAD
rs565358709 CA2673416	789	T>P		No	ClinGen 1000Genomes ExAC gnomAD
rs565358709	789	T>P		No	1000Genomes ExAC gnomAD
rs768446508	790	S>L		No	ExAC gnomAD
rs768446508 CA2673437	790	S>L		No	ClinGen ExAC gnomAD
rs184658976	791	L>P		No	1000Genomes
rs184658976 CA85757930	791	L>P		No	ClinGen 1000Genomes
CA355118351 rs1418814668	791	L>V		No	ClinGen TOPMed gnomAD
rs1418814668	791	L>V		No	TOPMed gnomAD
CA2673438 rs776306982	792	T>A		No	ClinGen ExAC TOPMed
rs776306982	792	T>A		No	ExAC TOPMed
rs1415057711	794	V>L		No	TOPMed
CA355118387 rs1415057711	794	V>L		No	ClinGen TOPMed
rs761675586 CA2673440	796	I>M		No	ClinGen ExAC TOPMed gnomAD
rs761675586	796	I>M		No	ExAC TOPMed gnomAD
rs142649978	797	V>I		No	1000Genomes ExAC TOPMed gnomAD
COSM3846553 COSM3846551 rs142649978 COSM3846552 CA2673441	797	V>I	breast [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs765848814 CA2673444	803	K>E		No	ClinGen ExAC gnomAD
rs765848814	803	K>E		No	ExAC gnomAD
CA2673445 rs372176288	803	K>T		No	ClinGen ESP ExAC gnomAD
rs372176288	803	K>T		No	ESP ExAC gnomAD
rs1294067324	804	Q>K		No	TOPMed gnomAD
rs1294067324 CA355118526	804	Q>K		No	ClinGen TOPMed gnomAD
rs1269230606 CA355118548	805	P>R		No	ClinGen gnomAD
rs1269230606	805	P>R		No	gnomAD
CA355118561 rs1452361077	806	D>G		No	ClinGen gnomAD
rs1452361077	806	D>G		No	gnomAD
CA85757995 rs993394234	808	L>F		No	ClinGen TOPMed gnomAD
rs993394234	808	L>F		No	TOPMed gnomAD
rs759135930	809	S>C		No	ExAC TOPMed gnomAD
rs759135930 CA2673446	809	S>C		No	ClinGen ExAC TOPMed gnomAD
rs1215796870	809	S>T		No	gnomAD
rs1215796870 CA355118593	809	S>T		No	ClinGen gnomAD
rs948921265	810	L>V		No	TOPMed gnomAD
CA355118605 rs948921265	810	L>V		No	ClinGen TOPMed gnomAD
rs1452971964 CA355118616	811	Q>*		No	ClinGen TOPMed
rs1452971964	811	Q>*		No	TOPMed
rs758884008	811	Q>H		No	ExAC gnomAD
rs758884008 CA85758016	811	Q>H		No	ClinGen ExAC gnomAD
rs1204485368	813	A>T		No	gnomAD
CA355118645 rs1204485368	813	A>T		No	ClinGen gnomAD
CA355118673 rs753106198	814	D>E		No	ClinGen ExAC TOPMed gnomAD
rs753106198	814	D>E		No	ExAC TOPMed gnomAD
rs1290381246	814	D>H		No	TOPMed
rs1290381246 CA355118664	814	D>H		No	ClinGen TOPMed
CA2673449 rs202083221	815	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs202083221	815	V>I		No	ESP ExAC TOPMed gnomAD
rs372579004	816	V>G		No	ESP ExAC TOPMed gnomAD
CA2673452 rs372579004	816	V>G		No	ClinGen ESP ExAC TOPMed gnomAD
COSM1420106 CA2673451 COSM1420108 rs367844118 COSM1420107	816	V>I	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs367844118	816	V>I		No	ESP ExAC TOPMed gnomAD
rs1174226096 CA355118708	817	L>P		No	ClinGen TOPMed gnomAD
rs1174226096	817	L>P		No	TOPMed gnomAD
CA2673454 rs746047577	818	I>T		No	ClinGen ExAC TOPMed gnomAD
rs746047577	818	I>T		No	ExAC TOPMed gnomAD
rs758556543 CA2673455	819	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs758556543	819	Y>C		No	ExAC TOPMed gnomAD
rs780325439 CA2673456	820	Q>R		No	ClinGen ExAC gnomAD
rs780325439	820	Q>R		No	ExAC gnomAD
CA2673457 rs747928374	821	R>C		No	ClinGen ExAC TOPMed gnomAD
rs747928374	821	R>C		No	ExAC TOPMed gnomAD
rs200864734 CA2673458	821	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200864734	821	R>H		No	1000Genomes ExAC TOPMed gnomAD
rs200864734	821	R>L		No	1000Genomes ExAC TOPMed gnomAD
rs200864734 CA2673459	821	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs749256693 CA2673460	822	V>F		No	ClinGen ExAC TOPMed gnomAD
rs749256693	822	V>F		No	ExAC TOPMed gnomAD
rs1326353446	824	D>N		No	TOPMed gnomAD
CA355118781 rs1326353446	824	D>N		No	ClinGen TOPMed gnomAD
rs759151684 CA85758085	825	G>C		No	ClinGen ExAC gnomAD
rs759151684	825	G>C		No	ExAC gnomAD
rs764493484 CA2673488	825	G>D		No	ClinGen ExAC gnomAD
rs764493484	825	G>D		No	ExAC gnomAD
rs759151684	825	G>S		No	ExAC gnomAD
rs759151684 CA2673464	825	G>S		No	ClinGen ExAC gnomAD
CA85758668 rs370150738	826	W>R		No	ClinGen ESP TOPMed
rs370150738	826	W>R		No	ESP TOPMed
rs762307181 CA355118858	827	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs762307181	827	Y>C		No	ExAC TOPMed gnomAD
rs777142511	827	Y>D		No	ExAC gnomAD
CA2673489 rs777142511	827	Y>D		No	ClinGen ExAC gnomAD
rs762307181	827	Y>F		No	ExAC TOPMed gnomAD
rs762307181 CA2673490	827	Y>F		No	ClinGen ExAC TOPMed gnomAD
rs1164914435	828	E>K		No	gnomAD
CA355118861 rs1164914435	828	E>K		No	ClinGen gnomAD
rs1365685257	830	E>*		No	TOPMed gnomAD
rs1365685257 CA355118877	830	E>*		No	ClinGen TOPMed gnomAD
rs750988663	830	E>G		No	ExAC gnomAD
CA2673492 rs750988663	830	E>G		No	ClinGen ExAC gnomAD
rs1365685257	830	E>Q		No	TOPMed gnomAD
CA355118876 rs1365685257	830	E>Q		No	ClinGen TOPMed gnomAD
rs758380978 CA2673493	831	R>*		No	ClinGen ExAC TOPMed
rs758380978	831	R>*		No	ExAC TOPMed
COSM3846556 rs766480661 COSM3846555 CA2673495 COSM3846554	831	R>Q	breast [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs766480661	831	R>Q		No	ExAC gnomAD
rs181692600 CA2673497	833	R>*		No	ClinGen 1000Genomes ExAC gnomAD
rs181692600	833	R>*		No	1000Genomes ExAC gnomAD
rs773704441 CA2673498	833	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs773704441	833	R>Q		No	ExAC TOPMed gnomAD
rs995163248	834	D>G		No	TOPMed
rs995163248 CA85758692	834	D>G		No	ClinGen TOPMed
rs757121201	835	G>R		No	ExAC gnomAD
CA2673500 rs757121201	835	G>R		No	ClinGen ExAC gnomAD
rs945054174 CA85758710	837	R>G		No	ClinGen TOPMed gnomAD
rs945054174	837	R>G		No	TOPMed gnomAD
rs778681523	837	R>S		No	ExAC TOPMed gnomAD
CA2673502 rs778681523	837	R>S		No	ClinGen ExAC TOPMed gnomAD
rs778681523	837	R>S		No	ExAC TOPMed gnomAD
CA2673501 rs778681523	837	R>S		No	ClinGen ExAC TOPMed gnomAD
rs771658975 CA2673503	838	G>C		No	ClinGen ExAC gnomAD
rs771658975	838	G>C		No	ExAC gnomAD
rs779722737	839	W>S		No	ExAC gnomAD
CA2673504 rs779722737	839	W>S		No	ClinGen ExAC gnomAD
rs746591478	840	F>V		No	ExAC gnomAD
rs746591478 CA2673505	840	F>V		No	ClinGen ExAC gnomAD
CA85758729 rs976864220	841	P>S		No	ClinGen gnomAD
rs976864220	841	P>S		No	gnomAD
rs768421237	842	M>V		No	ExAC gnomAD
CA2673506 rs768421237	842	M>V		No	ClinGen ExAC gnomAD
rs1049138937 CA85758735	844	C>F		No	ClinGen TOPMed
rs1049138937	844	C>F		No	TOPMed
rs1368470909 CA355118975	846	K>R		No	ClinGen gnomAD
rs1368470909	846	K>R		No	gnomAD
rs762062887	847	E>K		No	ExAC gnomAD
CA2673508 rs762062887	847	E>K		No	ClinGen ExAC gnomAD
rs1394957467	848	I>T		No	gnomAD
rs1394957467 CA355118990	848	I>T		No	ClinGen gnomAD
rs1412166329	850	C>W		No	gnomAD
CA355119006 rs1412166329	850	C>W		No	ClinGen gnomAD
rs1438273670	851	Q>P		No	TOPMed gnomAD
rs1438273670 CA355119010	851	Q>P		No	ClinGen TOPMed gnomAD
rs887326266 CA85758758	852	A>T		No	ClinGen TOPMed gnomAD
rs887326266	852	A>T		No	TOPMed gnomAD
rs141877115	852	A>V		No	1000Genomes ExAC gnomAD
CA2673509 rs141877115	852	A>V		No	ClinGen 1000Genomes ExAC gnomAD
CA355119020 rs1450641739	853	T>A		No	ClinGen gnomAD
rs1450641739	853	T>A		No	gnomAD
rs773556104	853	T>K		No	ExAC gnomAD
CA2673510 rs773556104	853	T>K		No	ClinGen ExAC gnomAD
rs766390411	854	I>T		No	ExAC gnomAD
rs766390411 CA2673512	854	I>T		No	ClinGen ExAC gnomAD
rs763541487	854	I>V		No	ExAC gnomAD
CA2673511 rs763541487	854	I>V		No	ClinGen ExAC gnomAD
CA85758793 rs1004389688	855	D>G		No	ClinGen TOPMed gnomAD
rs1004389688	855	D>G		No	TOPMed gnomAD
rs1262237099	859	E>G		No	gnomAD
CA355119072 rs1262237099	859	E>G		No	ClinGen gnomAD
rs759668319	861	M>I		No	ExAC gnomAD
CA2673514 rs759668319	861	M>I		No	ClinGen ExAC gnomAD
rs751645701	861	M>T		No	ExAC gnomAD
CA2673513 rs751645701	861	M>T		No	ClinGen ExAC gnomAD
rs1256404209 CA355119129	863	R>C		No	ClinGen gnomAD
rs1256404209	863	R>C		No	gnomAD
rs1324480739	863	R>H		No	Ensembl
COSM1040180 CA355119136 COSM1040182 rs1324480739 COSM1040181	863	R>H	endometrium [Cosmic]	No	ClinGen cosmic curated Ensembl
rs1297455168	865	L>Q		No	TOPMed
CA355119166 rs1297455168	865	L>Q		No	ClinGen TOPMed
rs1049647041 CA85758821	865	L>V		No	ClinGen TOPMed gnomAD
rs1049647041	865	L>V		No	TOPMed gnomAD
rs753000779	867	L>P		No	ExAC gnomAD
CA2673516 rs753000779	867	L>P		No	ClinGen ExAC gnomAD
CA355119186 rs1404495594	867	L>V		No	ClinGen TOPMed
rs1404495594	867	L>V		No	TOPMed
CA355119231 rs778790696	871	V>L		No	ClinGen ExAC gnomAD
rs778790696	871	V>L		No	ExAC gnomAD
rs778790696 CA2673518	871	V>M		No	ClinGen ExAC gnomAD
rs778790696	871	V>M		No	ExAC gnomAD

No associated diseases with Q96DR7

14 regional properties for Q96DR7

Type	Name	Position	InterPro Accession
domain	C2 domain	1071 - 1194	IPR000008
domain	Phosphatidylinositol-specific phospholipase C, X domain	320 - 465	IPR000909
domain	SH2 domain	548 - 657	IPR000980-1
domain	SH2 domain	666 - 756	IPR000980-2
domain	SH3 domain	791 - 851	IPR001452
domain	Phospholipase C, phosphatidylinositol-specific, Y domain	953 - 1070	IPR001711
domain	Pleckstrin homology domain	27 - 144	IPR001849-1
domain	Pleckstrin homology domain	489 - 680	IPR001849-2
domain	Pleckstrin homology domain	804 - 933	IPR001849-3
domain	EF-hand domain	152 - 187	IPR002048
binding_site	EF-Hand 1, calcium-binding site	165 - 177	IPR018247
domain	PLC-gamma, C-terminal SH2 domain	663 - 765	IPR035023
domain	PLC-gamma, N-terminal SH2 domain	545 - 649	IPR035024
domain	1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-1, SH3 domain	791 - 850	IPR035724

Functions

		Description
EC Number
Subcellular Localization	Cell projection, ruffle
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.
ruffle	Projection at the leading edge of a crawling cell; the protrusions are supported by a microfilament meshwork.

1 GO annotations of molecular function

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

3 GO annotations of biological process

Name	Definition
activation of GTPase activity	Any process that initiates the activity of an inactive GTPase through the replacement of GDP by GTP.
endothelial cell morphogenesis	The change in form (cell shape and size) that occurs during the differentiation of an endothelial cell.
ruffle assembly	The aggregation, arrangement and bonding together of a set of components to form a ruffle, a projection at the leading edge of a crawling cell; the protrusions are supported by a microfilament meshwork. The formation of ruffles (also called membrane ruffling) is thought to be controlled by a group of enzymes known as Rho GTPases, specifically RhoA, Rac1 and cdc42.

12 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
A5YM69	ARHGEF35	Rho guanine nucleotide exchange factor 35	Homo sapiens (Human)	PR
Q8IW93	ARHGEF19	Rho guanine nucleotide exchange factor 19	Homo sapiens (Human)	SS
Q5VV41	ARHGEF16	Rho guanine nucleotide exchange factor 16	Homo sapiens (Human)	PR
O94989	ARHGEF15	Rho guanine nucleotide exchange factor 15	Homo sapiens (Human)	SS
Q12774	ARHGEF5	Rho guanine nucleotide exchange factor 5	Homo sapiens (Human)	EV
Q8N5V2	NGEF	Ephexin-1	Homo sapiens (Human)	EV
E9Q7D5	Arhgef5	Rho guanine nucleotide exchange factor 5	Mus musculus (Mouse)	SS
Q8CHT1	Ngef	Ephexin-1	Mus musculus (Mouse)	SS
Q3U5C8	Arhgef16	Rho guanine nucleotide exchange factor 16	Mus musculus (Mouse)	PR
Q5FWH6	Arhgef15	Rho guanine nucleotide exchange factor 15	Mus musculus (Mouse)	SS
Q8BWA8	Arhgef19	Rho guanine nucleotide exchange factor 19	Mus musculus (Mouse)	PR
Q5BKC9	Ngef	Ephexin-1	Rattus norvegicus (Rat)	SS

10	20	30	40	50	60
MDGESEVDFS	SNSITPLWRR	RSIPQPHQVL	GRSKPRPQSY	QSPNGLLITD	FPVEDGGTLL
70	80	90	100	110	120
AAQIPAQVPT	ASDSRTVHRS	PLLLGAQRRA	VANGGTASPE	YRAASPRLRR	PKSPKLPKAV
130	140	150	160	170	180
PGGSPKSPAN	GAVTLPAPPP	PPVLRPPRTP	NAPAPCTPEE	DLTGLTASPV	PSPTANGLAA
190	200	210	220	230	240
NNDSPGSGSQ	SGRKAKDPER	GLFPGPQKSS	SEQKLPLQRL	PSQENELLEN	PSVVLSTNSP
250	260	270	280	290	300
AALKVGKQQI	IPKSLASEIK	ISKSNNQNVE	PHKRLLKVRS	MVEGLGGPLG	HAGEESEVDN
310	320	330	340	350	360
DVDSPGSLRR	GLRSTSYRRA	VVSGFDFDSP	TSSKKKNRMS	QPVLKVVMED	KEKFSSLGRI
370	380	390	400	410	420
KKKMLKGQGT	FDGEENAVLY	QNYKEKALDI	DSDEESEPKE	QKSDEKIVIH	HKPLRSTWSQ
430	440	450	460	470	480
LSAVKRKGLS	QTVSQEERKR	QEAIFEVISS	EHSYLLSLEI	LIRMFKNSKE	LSDTMTKTER
490	500	510	520	530	540
HHLFSNITDV	CEASKKFFIE	LEARHQNNIF	IDDISDIVEK	HTASTFDPYV	KYCTNEVYQQ
550	560	570	580	590	600
RTLQKLLATN	PSFKEVLSRI	ESHEDCRNLP	MISFLILPMQ	RVTRLPLLMD	TICQKTPKDS
610	620	630	640	650	660
PKYEVCKRAL	KEVSKLVRLC	NEGARKMERT	EMMYTINSQL	EFKIKPFPLV	SSSRWLVKRG
670	680	690	700	710	720
ELTAYVEDTV	LFSRRTSKQQ	VYFFLFNDVL	IITKKKSEES	YNVNDYSLRD	QLLVESCDNE
730	740	750	760	770	780
ELNSSPGKNS	STMLYSRQSS	ASHLFTLTVL	SNHANEKVEM	LLGAETQSER	ARWITALGHS
790	800	810	820	830	840
SGKPPADRTS	LTQVEIVRSF	TAKQPDELSL	QVADVVLIYQ	RVSDGWYEGE	RLRDGERGWF
850	860	870
PMECAKEITC	QATIDKNVER	MGRLLGLETN	V