AiPD: Autoinhibited Protein Database

Q92985

Gene name	IRF7
Protein name	Interferon regulatory factor 7
Names	IRF-7
Species	Homo sapiens (Human)
KEGG Pathway	hsa:3665
EC number
Protein Class	INTERFERON REGULATORY FACTOR (PTHR11949)

Descriptions

IRF7 is the master regulator of type I interferon-dependent immune responses controlling both innate and adaptive immunity. Deletion of the autoinhibitory region makes IRF-7 constitutively super-active. The autoinhibitory region contains α-helices H3 and H4, and two β-sheets (S10 and S11) between the helices, which mediate intramolecular interactions that keep the protein in an inactive form. The autoinhibitory region interacts with N-terminal DNA-binding domain and C-terminal signal response domain.

Autoinhibitory domains (AIDs)

Target domain	1-146 (N-terminal DNA-binding domain); 468-503 (Signal response domain)
Relief mechanism	PTM
Assay	Deletion assay, Structural analysis

AID

305-466 (Autoinhibitory region)

Target domain

1-146 (N-terminal DNA-binding domain); 468-503 (Signal response domain)

Relief mechanism

PTM (Virus-mediated phosphorylation in SRD)

Assay

Deletion assay, Structural analysis

Accessory elements

No accessory elements

References

Sathish N et al. (2011) "Mechanisms of autoinhibition of IRF-7 and a probable model for inactivation of IRF-7 by Kaposi's sarcoma-associated herpesvirus protein ORF45", The Journal of biological chemistry, 286, 746-56

Ning S et al. (2011) "IRF7: activation, regulation, modification and function", Genes and immunity, 12, 399-414

Lin R et al. (1999) "Structural and functional analysis of interferon regulatory factor 3: localization of the transactivation and autoinhibitory domains", Molecular and cellular biology, 19, 2465-74

Panne D et al. (2007) "An atomic model of the interferon-beta enhanceosome", Cell, 129, 1111-23

Autoinhibited structure

Activated structure

2 structures for Q92985

Entry ID	Method	Resolution	Chain	Position	Source
2O61	X-ray	280 A	A	8-125	PDB
AF-Q92985-F1	Predicted				AlphaFoldDB

1298 variants for Q92985

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA5784007 rs752300122 RCV000698192	100	R>P	Immunodeficiency 39 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs754686048 RCV001325705	101	S>missing	Immunodeficiency 39 [ClinVar]	Yes	ClinVar dbSNP
rs376350717 RCV000684860 CA5783998	106	V>E	Immunodeficiency 39 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001729688 rs201036875 CA5783982 RCV000695643	131	R>Q	Immunodeficiency 39 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA378982019 RCV000704379 rs1564883619	180	G>R	Immunodeficiency 39 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001048374 rs759055899 CA5783906	193	A>V	Immunodeficiency 39 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV001315521 CA5783896 rs755499829	201	W>*	Immunodeficiency 39 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs746222183 RCV001215215	203	A>missing	Immunodeficiency 39 [ClinVar]	Yes	ClinVar dbSNP
rs41313489 CA5783892 RCV000653177	204	D>N	Immunodeficiency 39 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs202174691 CA5783886 RCV000653175	210	A>V	Immunodeficiency 39 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001234022 rs553220620	228	P>T	Immunodeficiency 39 [ClinVar]	Yes	ClinVar dbSNP
RCV000688717 rs779826882	247	G>missing	Immunodeficiency 39 [ClinVar]	Yes	ClinVar dbSNP
COSM1739824 RCV001729685 rs201379782 RCV000690447 CA5783805	247	G>R	haematopoietic_and_lymphoid_tissue Immunodeficiency 39 [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001317482 rs779826882	251	A>missing	Immunodeficiency 39 [ClinVar]	Yes	ClinVar dbSNP
rs888494437 RCV000653172 CA216911472	251	A>P	Immunodeficiency 39 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
RCV000695228 CA378980078 rs369330126	256	G>C	Immunodeficiency 39 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs1564881781 CA378979754 RCV000692787	280	A>V	Immunodeficiency 39 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs763456786 RCV000653170 CA5783648	287	G>A	Immunodeficiency 39 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA5783645 rs368953537 RCV000653174	290	D>G	Immunodeficiency 39 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA378979503 rs1263250882 RCV000699742	308	P>S	Immunodeficiency 39 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs1295169574 RCV001209425 CA378979216	333	S>N	Immunodeficiency 39 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV001321632 rs746520294	374	C>*	Immunodeficiency 39 [ClinVar]	Yes	ClinVar dbSNP
RCV000170460 CA199638 rs786205223	410	F>V	Immunodeficiency 39 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
CA199640 RCV000170461 rs375323253	421	Q>*	Immunodeficiency 39 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA5783513 rs149039709 RCV000540199	423	R>P	Immunodeficiency 39 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1301455443 RCV000800772	426	P>missing	Immunodeficiency 39 [ClinVar]	Yes	ClinVar dbSNP
CA5783453 RCV000653171 rs375003348	463	E>K	Immunodeficiency 39 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs1589916130 CA378976022 RCV000797214	465	T>S	Immunodeficiency 39 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA378985503 rs1397894327	4	A>T		No	ClinGen TOPMed gnomAD
rs1397894327	4	A>T		No	TOPMed gnomAD
rs776893144	4	A>V		No	ExAC gnomAD
CA5784142 rs776893144	4	A>V		No	ClinGen ExAC gnomAD
CA5784140 rs368440136	6	E>K		No	ClinGen 1000Genomes ExAC gnomAD
rs368440136	6	E>K		No	1000Genomes ExAC gnomAD
rs1367244124	7	R>G		No	TOPMed
CA378985464 rs1367244124	7	R>G		No	ClinGen TOPMed
rs773962790	7	R>M		No	ExAC TOPMed gnomAD
rs773962790 CA378985458	7	R>M		No	ClinGen ExAC TOPMed gnomAD
CA5784139 rs773962790	7	R>T		No	ClinGen ExAC TOPMed gnomAD
rs773962790	7	R>T		No	ExAC TOPMed gnomAD
rs759529456 CA5784113	8	A>T		No	ClinGen ExAC gnomAD
rs759529456	8	A>T		No	ExAC gnomAD
CA378985075 rs1589925152	9	A>T		No	ClinGen Ensembl
rs1589925152	9	A>T		No	Ensembl
rs906854821 CA216913659	10	P>A		No	ClinGen TOPMed gnomAD
rs906854821	10	P>A		No	TOPMed gnomAD
CA5784112 rs375150065	10	P>L		No	ClinGen ESP ExAC gnomAD
rs375150065	10	P>L		No	ESP ExAC gnomAD
rs375150065	10	P>R		No	ESP ExAC gnomAD
rs375150065 CA378985051	10	P>R		No	ClinGen ESP ExAC gnomAD
rs746593118	12	V>L		No	ExAC TOPMed gnomAD
rs746593118 CA378985025	12	V>L		No	ClinGen ExAC TOPMed gnomAD
rs746593118	12	V>L		No	ExAC TOPMed gnomAD
CA5784110 rs746593118	12	V>L		No	ClinGen ExAC TOPMed gnomAD
rs532509180	13	L>P		No	1000Genomes ExAC TOPMed gnomAD
rs532509180 CA216913643	13	L>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5784108 rs532509180	13	L>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs532509180	13	L>R		No	1000Genomes ExAC TOPMed gnomAD
rs1244336930 CA378984968	15	G>E		No	ClinGen gnomAD
rs1244336930	15	G>E		No	gnomAD
CA5784107 rs748516995	16	E>K		No	ClinGen ExAC TOPMed gnomAD
rs748516995	16	E>K		No	ExAC TOPMed gnomAD
rs779476655	17	W>*		No	ExAC TOPMed gnomAD
CA5784106 rs779476655	17	W>*		No	ClinGen ExAC TOPMed gnomAD
CA216913635 rs898220003	20	G>E		No	ClinGen TOPMed gnomAD
rs898220003	20	G>E		No	TOPMed gnomAD
rs371777089	20	G>R		No	ESP ExAC gnomAD
rs371777089 CA5784105	20	G>R		No	ClinGen ESP ExAC gnomAD
CA378984814 rs1298692550	22	I>T		No	ClinGen gnomAD
rs1298692550	22	I>T		No	gnomAD
rs1420766879	23	S>G		No	TOPMed
rs1420766879 CA378984800	23	S>G		No	ClinGen TOPMed
rs754397896	23	S>N		No	ExAC TOPMed gnomAD
CA5784104 rs754397896	23	S>N		No	ClinGen ExAC TOPMed gnomAD
rs1362327953 CA378984770	24	S>T		No	ClinGen gnomAD
rs1362327953	24	S>T		No	gnomAD
rs368359584	25	G>A		No	ESP ExAC TOPMed gnomAD
rs368359584 CA378984749	25	G>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs368359584	25	G>D		No	ESP ExAC TOPMed gnomAD
rs368359584 CA5784101	25	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA5784102 rs756244722	25	G>S		No	ClinGen ExAC gnomAD
rs756244722	25	G>S		No	ExAC gnomAD
rs767751130	26	C>W		No	ExAC TOPMed gnomAD
rs767751130 CA5784100	26	C>W		No	ClinGen ExAC TOPMed gnomAD
rs11544075	28	E>D		No	1000Genomes ESP ExAC TOPMed gnomAD
CA378984687 rs11544075	28	E>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs762093032	28	E>Q		No	ExAC gnomAD
rs762093032 CA5784099	28	E>Q		No	ClinGen ExAC gnomAD
rs987116011 CA216913594	31	Q>H		No	ClinGen gnomAD
rs987116011	31	Q>H		No	gnomAD
rs918048724	32	W>*		No	TOPMed gnomAD
CA216913579 rs918048724	32	W>*		No	ClinGen TOPMed gnomAD
CA216913574 rs878869194	34	D>E		No	ClinGen gnomAD
rs878869194	34	D>E		No	gnomAD
rs776661844	35	E>A		No	ExAC gnomAD
CA5784095 rs776661844	35	E>A		No	ClinGen ExAC gnomAD
rs1483910273	35	E>D		No	gnomAD
CA378984561 rs1483910273	35	E>D		No	ClinGen gnomAD
CA5784096 rs759402769	35	E>K		No	ClinGen ExAC TOPMed gnomAD
rs759402769	35	E>K		No	ExAC TOPMed gnomAD
CA378984548 rs1253897149	36	A>D		No	ClinGen gnomAD
rs1253897149	36	A>D		No	gnomAD
rs1208973721	37	R>C		No	gnomAD
rs1208973721 CA378984533	37	R>C		No	ClinGen gnomAD
rs146681075 CA5784094	37	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs146681075	37	R>H		No	1000Genomes ESP ExAC TOPMed gnomAD
CA5784092 rs772662853	39	C>R		No	ClinGen ExAC TOPMed gnomAD
rs772662853	39	C>R		No	ExAC TOPMed gnomAD
rs1264475945	39	C>S		No	TOPMed
CA378984497 rs1264475945	39	C>S		No	ClinGen TOPMed
rs771740350	40	F>C		No	ExAC TOPMed gnomAD
CA5784091 rs771740350	40	F>C		No	ClinGen ExAC TOPMed gnomAD
CA378984459 rs1397863257	41	R>C		No	ClinGen gnomAD
rs1397863257	41	R>C		No	gnomAD
rs747813321	41	R>H		No	ExAC gnomAD
rs747813321 CA5784090	41	R>H		No	ClinGen ExAC gnomAD
rs774787715	44	W>*		No	ExAC TOPMed gnomAD
rs774787715 CA5784089	44	W>*		No	ClinGen ExAC TOPMed gnomAD
CA378984416 rs1235007874	44	W>R		No	ClinGen Ensembl
rs1235007874	44	W>R		No	Ensembl
rs959601641	46	H>Q		No	TOPMed gnomAD
CA216913539 rs959601641	46	H>Q		No	ClinGen TOPMed gnomAD
rs149672084	47	F>S		No	ESP ExAC gnomAD
CA5784088 rs149672084	47	F>S		No	ClinGen ESP ExAC gnomAD
rs749759655	49	R>H		No	ExAC TOPMed gnomAD
CA5784087 rs749759655	49	R>H		No	ClinGen ExAC TOPMed gnomAD
rs749759655	49	R>P		No	ExAC TOPMed gnomAD
CA378983621 rs749759655	49	R>P		No	ClinGen ExAC TOPMed gnomAD
CA378983603 rs1180965387	52	L>M		No	ClinGen gnomAD
rs1180965387	52	L>M		No	gnomAD
rs1308688027	53	S>N		No	TOPMed gnomAD
CA378983595 rs1308688027	53	S>N		No	ClinGen TOPMed gnomAD
rs561433488	53	S>R		No	1000Genomes ExAC TOPMed gnomAD
CA5784084 rs561433488	53	S>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1196559888 CA378983581	55	A>T		No	ClinGen gnomAD
rs1196559888	55	A>T		No	gnomAD
CA5784080 rs764976479	56	D>N		No	ClinGen ExAC TOPMed gnomAD
rs764976479	56	D>N		No	ExAC TOPMed gnomAD
rs1320063877	57	A>V		No	gnomAD
rs1320063877 CA378983565	57	A>V		No	ClinGen gnomAD
rs766334448 CA5784077	58	R>H		No	ClinGen ExAC TOPMed gnomAD
rs766334448	58	R>H		No	ExAC TOPMed gnomAD
rs766334448	58	R>P		No	ExAC TOPMed gnomAD
rs766334448 CA5784078	58	R>P		No	ClinGen ExAC TOPMed gnomAD
rs1446529694	60	F>L		No	gnomAD
rs1446529694 CA378983551	60	F>L		No	ClinGen gnomAD
rs775868835	63	W>R		No	ExAC
CA5784047 rs775868835	63	W>R		No	ClinGen ExAC
rs770061476	64	A>D		No	ExAC
rs770061476 CA5784046	64	A>D		No	ClinGen ExAC
rs1589924013 CA378983503	65	V>A		No	ClinGen Ensembl
rs1589924013	65	V>A		No	Ensembl
rs1464411215 CA378983504	65	V>L		No	ClinGen gnomAD
rs1464411215	65	V>L		No	gnomAD
rs1194352093 CA378983497	66	A>V		No	ClinGen gnomAD
rs1194352093	66	A>V		No	gnomAD
rs1284583225 CA378983486	68	G>D		No	ClinGen TOPMed
rs1284583225	68	G>D		No	TOPMed
CA5784045 rs760049350	68	G>S		No	ClinGen ExAC gnomAD
rs760049350	68	G>S		No	ExAC gnomAD
rs1023236849	69	R>K		No	TOPMed
rs1023236849 CA216913225	69	R>K		No	ClinGen TOPMed
rs1056641712 CA216913205	70	W>*		No	ClinGen TOPMed gnomAD
rs1056641712	70	W>*		No	TOPMed gnomAD
rs1344827949	70	W>C		No	gnomAD
rs1344827949 CA378983472	70	W>C		No	ClinGen gnomAD
rs747086616 CA5784042	70	W>G		No	ClinGen ExAC gnomAD
rs747086616	70	W>G		No	ExAC gnomAD
rs777886720 CA5784041	71	P>T		No	ClinGen ExAC TOPMed
rs777886720	71	P>T		No	ExAC TOPMed
rs926854541	73	S>R		No	TOPMed
CA216913168 rs926854541	73	S>R		No	ClinGen TOPMed
rs748320261	73	S>T		No	ExAC gnomAD
CA5784037 rs748320261	73	S>T		No	ClinGen ExAC gnomAD
rs1278054382	74	S>I		No	gnomAD
rs1278054382 CA378983448	74	S>I		No	ClinGen gnomAD
rs779855922	75	R>T		No	ExAC TOPMed gnomAD
rs779855922 CA5784036	75	R>T		No	ClinGen ExAC TOPMed gnomAD
rs781248490	76	G>E		No	ExAC gnomAD
rs781248490 CA5784033	76	G>E		No	ClinGen ExAC gnomAD
rs750277291	76	G>R		No	ExAC TOPMed gnomAD
CA5784034 rs750277291	76	G>R		No	ClinGen ExAC TOPMed gnomAD
CA5784032 rs757334669	77	G>D		No	ClinGen ExAC TOPMed gnomAD
rs757334669	77	G>D		No	ExAC TOPMed gnomAD
rs757334669	77	G>V		No	ExAC TOPMed gnomAD
CA378983431 rs757334669	77	G>V		No	ClinGen ExAC TOPMed gnomAD
rs1038112872	78	G>C		No	gnomAD
rs1038112872 CA216913119	78	G>C		No	ClinGen gnomAD
rs751103357	78	G>D		No	ExAC TOPMed gnomAD
CA5784031 rs751103357	78	G>D		No	ClinGen ExAC TOPMed gnomAD
rs1038112872	78	G>S		No	gnomAD
CA378983430 rs1038112872	78	G>S		No	ClinGen gnomAD
rs751103357	78	G>V		No	ExAC TOPMed gnomAD
CA378983427 rs751103357	78	G>V		No	ClinGen ExAC TOPMed gnomAD
rs868179711 CA378983422	79	P>L		No	ClinGen gnomAD
rs868179711	79	P>L		No	gnomAD
rs868179711 CA216913099	79	P>Q		No	ClinGen gnomAD
rs868179711	79	P>Q		No	gnomAD
rs762601707	80	P>T		No	ExAC gnomAD
CA5784029 rs762601707	80	P>T		No	ClinGen ExAC gnomAD
CA378983415 rs1368969102	81	P>A		No	ClinGen gnomAD
rs1368969102	81	P>A		No	gnomAD
rs752325699 CA378983413	81	P>H		No	ClinGen ExAC TOPMed gnomAD
rs752325699	81	P>H		No	ExAC TOPMed gnomAD
rs752325699 CA5784028	81	P>L		No	ClinGen ExAC TOPMed gnomAD
rs752325699	81	P>L		No	ExAC TOPMed gnomAD
rs765588606	82	E>K		No	ExAC
CA5784027 rs765588606	82	E>K		No	ClinGen ExAC
rs759798143	83	A>S		No	ExAC TOPMed gnomAD
CA5784025 rs759798143	83	A>S		No	ClinGen ExAC TOPMed gnomAD
rs777045773 CA5784024	84	E>A		No	ClinGen ExAC TOPMed gnomAD
rs777045773	84	E>A		No	ExAC TOPMed gnomAD
rs545822500	84	E>D		No	1000Genomes TOPMed
rs545822500 CA216913051	84	E>D		No	ClinGen 1000Genomes TOPMed
rs751995586 CA216913071	84	E>K		No	ClinGen TOPMed gnomAD
rs751995586	84	E>K		No	TOPMed gnomAD
rs751995586	84	E>Q		No	TOPMed gnomAD
CA378983379 rs751995586	84	E>Q		No	ClinGen TOPMed gnomAD
rs1285426444	85	T>S		No	gnomAD
rs1285426444 CA378983360	85	T>S		No	ClinGen gnomAD
rs771414323	86	A>E		No	ExAC TOPMed gnomAD
rs771414323 CA378983349	86	A>E		No	ClinGen ExAC TOPMed gnomAD
rs771414323	86	A>V		No	ExAC TOPMed gnomAD
CA5784022 rs771414323	86	A>V		No	ClinGen ExAC TOPMed gnomAD
rs772072942	88	R>C		No	ExAC gnomAD
rs772072942 CA5784019	88	R>C		No	ClinGen ExAC gnomAD
rs766683434	88	R>H		No	ExAC gnomAD
CA5784018 rs766683434	88	R>H		No	ClinGen ExAC gnomAD
rs1327288971 CA378983318	89	A>P		No	ClinGen TOPMed
rs1327288971	89	A>P		No	TOPMed
CA5784015 rs768959432	90	G>S		No	ClinGen ExAC gnomAD
rs768959432	90	G>S		No	ExAC gnomAD
rs745658182	90	G>V		No	ExAC gnomAD
rs745658182 CA5784014	90	G>V		No	ClinGen ExAC gnomAD
rs1416109339 CA378983285	91	W>*		No	ClinGen gnomAD
rs1416109339	91	W>*		No	gnomAD
rs953876367	93	T>A		No	TOPMed gnomAD
CA216913000 rs953876367	93	T>A		No	ClinGen TOPMed gnomAD
rs1472484462	93	T>I		No	gnomAD
CA378983255 rs1472484462	93	T>I		No	ClinGen gnomAD
rs953876367	93	T>P		No	TOPMed gnomAD
CA378983264 rs953876367	93	T>P		No	ClinGen TOPMed gnomAD
rs781195360	95	F>L		No	ExAC TOPMed gnomAD
rs781195360 CA378983225	95	F>L		No	ClinGen ExAC TOPMed gnomAD
rs1185952202	95	F>Y		No	TOPMed
rs1185952202 CA378983229	95	F>Y		No	ClinGen TOPMed
CA378983211 rs1473212917	96	R>P		No	ClinGen TOPMed
rs1473212917	96	R>P		No	TOPMed
CA378983178 rs943352970	99	L>V		No	ClinGen gnomAD
rs943352970	99	L>V		No	gnomAD
rs757871091	100	R>C		No	ExAC gnomAD
rs757871091 CA5784008	100	R>C		No	ClinGen ExAC gnomAD
rs757871091	100	R>G		No	ExAC gnomAD
CA216912958 rs757871091	100	R>G		No	ClinGen ExAC gnomAD
rs752300122 CA216912927	100	R>H		No	ClinGen ExAC TOPMed gnomAD
rs752300122	100	R>H		No	ExAC TOPMed gnomAD
rs752300122	100	R>P		No	ExAC TOPMed gnomAD
rs764792303 CA5784006	102	T>P		No	ClinGen ExAC gnomAD
rs764792303	102	T>P		No	ExAC gnomAD
rs754717443 CA5784005	102	T>R		No	ClinGen ExAC TOPMed gnomAD
rs754717443	102	T>R		No	ExAC TOPMed gnomAD
rs754142854 CA5784004	103	R>C		No	ClinGen ExAC TOPMed gnomAD
rs754142854	103	R>C		No	ExAC TOPMed gnomAD
rs754142854	103	R>G		No	ExAC TOPMed gnomAD
CA378983133 rs754142854	103	R>G		No	ClinGen ExAC TOPMed gnomAD
rs370737637	103	R>H		No	ESP ExAC gnomAD
CA5784003 rs370737637	103	R>H		No	ClinGen ESP ExAC gnomAD
rs11544074	104	R>C		No	TOPMed gnomAD
CA216912910 rs11544074	104	R>C		No	ClinGen TOPMed gnomAD
rs773728605 CA5784001	104	R>H		No	ClinGen ExAC gnomAD
rs773728605	104	R>H		No	ExAC gnomAD
rs773728605	104	R>L		No	ExAC gnomAD
CA5784002 rs773728605	104	R>L		No	ClinGen ExAC gnomAD
CA216912899 rs376350717	106	V>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs376350717	106	V>A		No	1000Genomes ESP ExAC TOPMed gnomAD
rs376350717	106	V>E		No	1000Genomes ESP ExAC TOPMed gnomAD
rs576761308 CA5784000	106	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs576761308	106	V>L		No	1000Genomes ExAC TOPMed gnomAD
rs576761308	106	V>M		No	1000Genomes ExAC TOPMed gnomAD
rs576761308 CA5783999	106	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1286419696	108	L>P		No	TOPMed
CA378983072 rs1286419696	108	L>P		No	ClinGen TOPMed
rs373822391	109	R>*		No	ESP ExAC TOPMed gnomAD
rs373822391 CA216912889	109	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1245497159 CA378983050	110	D>G		No	ClinGen TOPMed gnomAD
rs1245497159	110	D>G		No	TOPMed gnomAD
rs1479173430	110	D>N		No	gnomAD
CA378983056 rs1479173430	110	D>N		No	ClinGen gnomAD
rs377666491	111	N>K		No	ESP ExAC gnomAD
CA378983027 rs377666491	111	N>K		No	ClinGen ESP ExAC gnomAD
rs746896151	112	S>*		No	ExAC TOPMed
rs746896151 CA5783994	112	S>*		No	ClinGen ExAC TOPMed
rs746896151 CA5783993	112	S>L		No	ClinGen ExAC TOPMed
rs746896151	112	S>L		No	ExAC TOPMed
CA5783992 rs777550302	113	G>E		No	ClinGen ExAC gnomAD
rs777550302	113	G>E		No	ExAC gnomAD
rs758401823	114	D>Y		No	ExAC
CA5783991 rs758401823	114	D>Y		No	ClinGen ExAC
rs747596779	115	P>L		No	ExAC TOPMed gnomAD
rs747596779 CA5783990	115	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1283068365	116	A>T		No	gnomAD
rs1283068365 COSM224385 CA378982984	116	A>T	skin [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1205040069	117	D>N		No	TOPMed
CA378982970 rs1205040069	117	D>N		No	ClinGen TOPMed
rs1404228725	121	V>M		No	TOPMed gnomAD
CA378982911 rs1404228725	121	V>M		No	ClinGen TOPMed gnomAD
CA216912824 rs886830127	123	A>G		No	ClinGen gnomAD
rs886830127	123	A>G		No	gnomAD
rs750822936	123	A>P		No	ExAC TOPMed gnomAD
rs750822936 CA5783984	123	A>P		No	ClinGen ExAC TOPMed gnomAD
CA216912829 rs750822936	123	A>T		No	ClinGen ExAC TOPMed gnomAD
rs750822936	123	A>T		No	ExAC TOPMed gnomAD
rs886830127	123	A>V		No	gnomAD
CA378982885 rs886830127	123	A>V		No	ClinGen gnomAD
rs147835683	126	R>W		No	1000Genomes gnomAD
CA216912800 rs147835683	126	R>W		No	ClinGen 1000Genomes gnomAD
rs1416571490	127	E>Q		No	gnomAD
rs1416571490 CA378982845	127	E>Q		No	ClinGen gnomAD
CA5783983 rs554316676	128	L>M		No	ClinGen 1000Genomes ExAC gnomAD
rs554316676	128	L>M		No	1000Genomes ExAC gnomAD
rs1564884571 CA378982795	130	W>C		No	ClinGen Ensembl
rs1564884571	130	W>C		No	Ensembl
rs998004531	131	R>*		No	gnomAD
CA378982787 rs998004531	131	R>*		No	ClinGen gnomAD
rs998004531	131	R>G		No	gnomAD
CA216912795 rs998004531	131	R>G		No	ClinGen gnomAD
rs201036875	131	R>Q		No	1000Genomes ESP ExAC TOPMed gnomAD
rs565622360	133	G>C		No	1000Genomes
CA216912514 rs565622360	133	G>C		No	ClinGen 1000Genomes
CA216912513 rs760842338	133	G>D		No	ClinGen gnomAD
rs760842338	133	G>D		No	gnomAD
CA378982700 rs1329963670	134	P>A		No	ClinGen TOPMed gnomAD
rs1329963670	134	P>A		No	TOPMed gnomAD
rs1329963670 CA378982697	134	P>S		No	ClinGen TOPMed gnomAD
rs1329963670	134	P>S		No	TOPMed gnomAD
CA378982682 rs1164906479	135	G>D		No	ClinGen gnomAD
rs1164906479	135	G>D		No	gnomAD
rs1350930645	135	G>S		No	gnomAD
rs1350930645 CA378982684	135	G>S		No	ClinGen gnomAD
rs545358325 CA378982672	136	T>M		No	ClinGen 1000Genomes gnomAD
rs545358325	136	T>M		No	1000Genomes gnomAD
rs545358325 CA216912500	136	T>R		No	ClinGen 1000Genomes gnomAD
rs545358325	136	T>R		No	1000Genomes gnomAD
CA378982661 rs369156626	137	D>A		No	ClinGen ESP TOPMed gnomAD
rs369156626	137	D>A		No	ESP TOPMed gnomAD
CA378982667 rs1386047912	137	D>N		No	ClinGen gnomAD
rs1386047912	137	D>N		No	gnomAD
CA216912499 rs369156626	137	D>V		No	ClinGen ESP TOPMed gnomAD
rs369156626	137	D>V		No	ESP TOPMed gnomAD
rs1440152200	138	Q>E		No	gnomAD
CA378982652 rs1440152200	138	Q>E		No	ClinGen gnomAD
CA378982642 rs1239737538	138	Q>H		No	ClinGen TOPMed gnomAD
rs1239737538	138	Q>H		No	TOPMed gnomAD
rs757640469	140	E>K		No	ExAC TOPMed gnomAD
CA5783962 rs757640469	140	E>K		No	ClinGen ExAC TOPMed gnomAD
CA378982629 rs757640469	140	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs757640469	140	E>Q		No	ExAC TOPMed gnomAD
CA378982603 rs1480279038	142	E>K		No	ClinGen gnomAD
rs1480279038	142	E>K		No	gnomAD
CA378982581 rs764032119	143	A>D		No	ClinGen ExAC gnomAD
rs764032119	143	A>D		No	ExAC gnomAD
rs764032119 CA5783960	143	A>G		No	ClinGen ExAC gnomAD
rs764032119	143	A>G		No	ExAC gnomAD
rs1223868687	143	A>T		No	TOPMed gnomAD
CA378982587 rs1223868687	143	A>T		No	ClinGen TOPMed gnomAD
rs1379641911	144	P>L		No	gnomAD
CA378982566 rs1379641911	144	P>L		No	ClinGen gnomAD
rs1241111424	144	P>T		No	gnomAD
rs1241111424 CA378982572	144	P>T		No	ClinGen gnomAD
CA5783959 rs763105303	145	A>T		No	ClinGen ExAC TOPMed gnomAD
rs763105303	145	A>T		No	ExAC TOPMed gnomAD
rs982671732	145	A>V		No	TOPMed
rs982671732 CA216912468	145	A>V		No	ClinGen TOPMed
CA5783958 rs752864948	146	A>T		No	ClinGen ExAC gnomAD
rs752864948	146	A>T		No	ExAC gnomAD
CA5783957 rs765552656	147	V>F		No	ClinGen ExAC gnomAD
rs765552656	147	V>F		No	ExAC gnomAD
CA216912462 rs765552656	147	V>I		No	ClinGen ExAC gnomAD
rs765552656	147	V>I		No	ExAC gnomAD
CA378982526 rs1363166701	148	P>L		No	ClinGen gnomAD
rs1363166701	148	P>L		No	gnomAD
rs375139815 CA216912430	149	P>S		No	ClinGen ESP TOPMed
rs375139815	149	P>S		No	ESP TOPMed
rs910109780	150	P>L		No	Ensembl
rs910109780 CA216912408	150	P>L		No	ClinGen Ensembl
rs759851199	151	Q>*		No	ExAC gnomAD
CA5783956 rs759851199	151	Q>*		No	ClinGen ExAC gnomAD
rs1222010575 CA378982436	152	G>D		No	ClinGen gnomAD
rs1222010575	152	G>D		No	gnomAD
rs1323486550 CA378982433	153	G>R		No	ClinGen gnomAD
rs1323486550	153	G>R		No	gnomAD
rs759040714 CA5783937	154	P>L		No	ClinGen ExAC TOPMed gnomAD
rs759040714	154	P>L		No	ExAC TOPMed gnomAD
rs1194791870	155	P>R		No	TOPMed gnomAD
rs1194791870 CA378982404	155	P>R		No	ClinGen TOPMed gnomAD
rs1341819759	155	P>S		No	gnomAD
rs1341819759 CA378982408	155	P>S		No	ClinGen gnomAD
rs759635258	156	G>E		No	ExAC TOPMed gnomAD
CA5783934 rs759635258	156	G>E		No	ClinGen ExAC TOPMed gnomAD
rs368263474	156	G>R		No	ESP ExAC TOPMed gnomAD
CA378982400 rs368263474	156	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA5783935 rs368263474	156	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs368263474	156	G>R		No	ESP ExAC TOPMed gnomAD
rs1428535730	158	F>L		No	gnomAD
CA378982364 rs1428535730	158	F>L		No	ClinGen gnomAD
rs1467978455	158	F>Y		No	gnomAD
CA378982372 rs1467978455	158	F>Y		No	ClinGen gnomAD
CA378982343 rs1482039649	160	A>V		No	ClinGen TOPMed
rs1482039649	160	A>V		No	TOPMed
rs1371378988 CA378982334	161	H>P		No	ClinGen gnomAD
rs1371378988	161	H>P		No	gnomAD
rs1371378988	161	H>R		No	gnomAD
CA378982332 rs1371378988	161	H>R		No	ClinGen gnomAD
rs766554952	162	T>K		No	ExAC TOPMed gnomAD
rs766554952 CA5783932	162	T>K		No	ClinGen ExAC TOPMed gnomAD
CA378982290 rs1488871360	163	H>L		No	ClinGen TOPMed
rs1488871360	163	H>L		No	TOPMed
rs1202170753	164	A>D		No	gnomAD
CA378982268 rs1202170753	164	A>D		No	ClinGen gnomAD
rs768564343	165	G>A		No	ExAC TOPMed gnomAD
CA5783929 rs768564343	165	G>A		No	ClinGen ExAC TOPMed gnomAD
rs1461104042	165	G>R		No	gnomAD
rs1461104042 CA378982259	165	G>R		No	ClinGen gnomAD
rs893655473	166	L>F		No	gnomAD
rs893655473 CA216912210	166	L>F		No	ClinGen gnomAD
CA5783926 rs769327047	167	Q>H		No	ClinGen ExAC gnomAD
rs769327047	167	Q>H		No	ExAC gnomAD
rs745464393	168	A>V		No	ExAC TOPMed gnomAD
rs745464393 CA5783925	168	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1316642544	169	P>L		No	gnomAD
CA378982183 rs1316642544	169	P>L		No	ClinGen gnomAD
rs1340704067 CA378982190	169	P>S		No	ClinGen gnomAD
rs1340704067	169	P>S		No	gnomAD
rs1405083212	170	G>D		No	gnomAD
CA378982163 rs1405083212	170	G>D		No	ClinGen gnomAD
rs537691171 CA5783923	170	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs537691171	170	G>R		No	1000Genomes ExAC TOPMed gnomAD
CA5783921 rs778341416	171	P>L		No	ClinGen ExAC gnomAD
rs778341416	171	P>L		No	ExAC gnomAD
rs758907143 CA5783919	173	P>L		No	ClinGen ExAC gnomAD
rs758907143	173	P>L		No	ExAC gnomAD
rs1473126641 CA378982101	174	A>T		No	ClinGen gnomAD
rs1473126641	174	A>T		No	gnomAD
CA378982091 rs1435198271	174	A>V		No	ClinGen TOPMed
rs1435198271	174	A>V		No	TOPMed
rs1444479877	176	A>D		No	gnomAD
CA378982068 rs1444479877	176	A>D		No	ClinGen gnomAD
CA216912152 rs755532981	176	A>P		No	ClinGen Ensembl
rs755532981	176	A>P		No	Ensembl
CA378982055 rs1239137691	177	G>A		No	ClinGen TOPMed gnomAD
rs1239137691	177	G>A		No	TOPMed gnomAD
CA378982057 rs1239137691	177	G>D		No	ClinGen TOPMed gnomAD
rs1239137691	177	G>D		No	TOPMed gnomAD
rs1061502	179	K>E		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1061502 CA5783918	179	K>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1564883613	180	G>E		No	Ensembl
CA378982013 rs1564883613	180	G>E		No	ClinGen Ensembl
rs1564883619	180	G>R		No	Ensembl
CA216912135 rs1050779127	181	D>E		No	ClinGen TOPMed
rs1050779127	181	D>E		No	TOPMed
rs1391458369 CA378981998	182	L>V		No	ClinGen Ensembl
rs1391458369	182	L>V		No	Ensembl
CA5783914 rs538521806	183	L>P		No	ClinGen 1000Genomes ExAC gnomAD
rs538521806	183	L>P		No	1000Genomes ExAC gnomAD
rs1337321351	184	L>P		No	TOPMed
CA378981959 rs1337321351	184	L>P		No	ClinGen TOPMed
rs756347258	185	Q>*		No	ExAC TOPMed gnomAD
rs756347258 CA5783913	185	Q>*		No	ClinGen ExAC TOPMed gnomAD
CA378981933 rs1309745846	186	A>T		No	ClinGen gnomAD
rs1309745846	186	A>T		No	gnomAD
rs751293905	186	A>V		No	ExAC TOPMed gnomAD
CA5783912 rs751293905	186	A>V		No	ClinGen ExAC TOPMed gnomAD
rs763883439	187	V>A		No	ExAC TOPMed gnomAD
CA5783911 rs763883439	187	V>A		No	ClinGen ExAC TOPMed gnomAD
rs1406083369	188	Q>*		No	gnomAD
CA378981905 rs1406083369	188	Q>*		No	ClinGen gnomAD
rs1373851610 CA378981881	189	Q>*		No	ClinGen gnomAD
rs1373851610	189	Q>*		No	gnomAD
rs1373851610	189	Q>E		No	gnomAD
rs1373851610 CA378981882	189	Q>E		No	ClinGen gnomAD
rs775432829 CA5783909	189	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs775432829	189	Q>H		No	ExAC TOPMed gnomAD
rs775432829 CA378981870	189	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs775432829	189	Q>H		No	ExAC TOPMed gnomAD
rs1373851610 CA378981885	189	Q>K		No	ClinGen gnomAD
rs1373851610	189	Q>K		No	gnomAD
CA378981848 rs1466434742	190	S>R		No	ClinGen TOPMed
rs1466434742	190	S>R		No	TOPMed
CA378981836 rs1189562284	191	C>Y		No	ClinGen TOPMed
rs1189562284	191	C>Y		No	TOPMed
rs765211324	193	A>T		No	ExAC TOPMed gnomAD
rs765211324 CA5783907	193	A>T		No	ClinGen ExAC TOPMed gnomAD
rs759055899	193	A>V		No	ExAC gnomAD
rs1165491219	194	D>N		No	TOPMed
rs1165491219 CA378981801	194	D>N		No	ClinGen TOPMed
CA378981779 rs776071645	195	H>D		No	ClinGen ExAC TOPMed gnomAD
rs776071645	195	H>D		No	ExAC TOPMed gnomAD
CA5783903 rs139709725	195	H>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs139709725	195	H>L		No	ESP ExAC TOPMed gnomAD
CA5783904 rs776071645	195	H>N		No	ClinGen ExAC TOPMed gnomAD
rs776071645	195	H>N		No	ExAC TOPMed gnomAD
rs200092197 CA5783902	195	H>Q		No	ClinGen 1000Genomes ExAC
rs200092197	195	H>Q		No	1000Genomes ExAC
rs1286200733 CA378981741	197	L>M		No	ClinGen gnomAD
rs1286200733	197	L>M		No	gnomAD
rs772585517 CA5783899	198	T>I		No	ClinGen ExAC gnomAD
rs772585517	198	T>I		No	ExAC gnomAD
rs1462220336	198	T>S		No	gnomAD
CA378981724 rs1462220336	198	T>S		No	ClinGen gnomAD
rs748572013	199	A>V		No	ExAC gnomAD
rs748572013 CA5783898	199	A>V		No	ClinGen ExAC gnomAD
rs755499829	201	W>*		No	ExAC TOPMed gnomAD
rs755499829 CA378981670	201	W>L		No	ClinGen ExAC TOPMed gnomAD
rs755499829	201	W>L		No	ExAC TOPMed gnomAD
rs749371505	202	G>E		No	ExAC TOPMed gnomAD
rs749371505 CA5783895	202	G>E		No	ClinGen ExAC TOPMed gnomAD
rs780007979	203	A>P		No	ExAC gnomAD
rs780007979 CA5783894	203	A>P		No	ClinGen ExAC gnomAD
rs780007979 CA378981657	203	A>T		No	ClinGen ExAC gnomAD
rs780007979	203	A>T		No	ExAC gnomAD
rs941489467	203	A>V		No	Ensembl
CA216911941 rs941489467	203	A>V		No	ClinGen Ensembl
rs41313489	204	D>N		No	1000Genomes ESP ExAC TOPMed gnomAD
rs750677862	207	P>R		No	ExAC gnomAD
CA5783891 rs750677862	207	P>R		No	ClinGen ExAC gnomAD
rs140644060	208	T>I		No	1000Genomes ExAC TOPMed gnomAD
CA5783888 rs140644060	208	T>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs758170845 CA5783890	208	T>P		No	ClinGen ExAC gnomAD
rs758170845	208	T>P		No	ExAC gnomAD
rs758170845 CA5783889	208	T>S		No	ClinGen ExAC gnomAD
rs758170845	208	T>S		No	ExAC gnomAD
CA378981552 rs1490026284	210	A>T		No	ClinGen gnomAD
rs1490026284	210	A>T		No	gnomAD
rs202174691	210	A>V		No	ExAC TOPMed gnomAD
rs776150762	211	P>A		No	ExAC gnomAD
rs776150762 CA5783885	211	P>A		No	ClinGen ExAC gnomAD
rs760352446	212	G>E		No	ExAC gnomAD
CA5783883 rs760352446	212	G>E		No	ClinGen ExAC gnomAD
rs769280074	212	G>R		No	ExAC gnomAD
rs769280074 CA5783884	212	G>R		No	ClinGen ExAC gnomAD
rs1325596220	213	E>D		No	gnomAD
rs1325596220 CA378981483	213	E>D		No	ClinGen gnomAD
rs375250292	213	E>K		No	ESP ExAC TOPMed gnomAD
rs375250292 CA216911911	213	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs375250292	213	E>Q		No	ESP ExAC TOPMed gnomAD
CA5783882 rs375250292	213	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs140823442 CA5783881	214	G>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs140823442	214	G>E		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1223044516	215	Q>R		No	TOPMed gnomAD
rs1223044516 CA378981456	215	Q>R		No	ClinGen TOPMed gnomAD
rs1238495238	216	E>Q		No	TOPMed
rs1238495238 CA378981441	216	E>Q		No	ClinGen TOPMed
rs774910361 CA5783879	217	G>E		No	ClinGen ExAC TOPMed
rs774910361	217	G>E		No	ExAC TOPMed
rs762259912	217	G>R		No	ExAC TOPMed gnomAD
rs762259912	217	G>R		No	ExAC TOPMed gnomAD
CA378981423 rs762259912	217	G>R		No	ClinGen ExAC TOPMed gnomAD
CA5783880 rs762259912	217	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1290898555 CA378981385	219	P>S		No	ClinGen gnomAD
rs1290898555	219	P>S		No	gnomAD
CA5783876 rs749760219	220	L>M		No	ClinGen ExAC TOPMed gnomAD
rs749760219	220	L>M		No	ExAC TOPMed gnomAD
rs1344782892	220	L>P		No	gnomAD
rs1344782892 CA378981366	220	L>P		No	ClinGen gnomAD
CA5783873 rs746001143	222	G>R		No	ClinGen ExAC TOPMed gnomAD
rs746001143	222	G>R		No	ExAC TOPMed gnomAD
rs781365327	224	C>W		No	ExAC TOPMed gnomAD
CA5783872 rs781365327	224	C>W		No	ClinGen ExAC TOPMed gnomAD
rs752476163	225	A>G		No	ExAC TOPMed gnomAD
rs752476163 CA5783870	225	A>G		No	ClinGen ExAC TOPMed gnomAD
rs757543164	225	A>T		No	ExAC gnomAD
CA5783871 rs757543164	225	A>T		No	ClinGen ExAC gnomAD
CA5783868 rs754879003	226	G>R		No	ClinGen ExAC gnomAD
rs754879003	226	G>R		No	ExAC gnomAD
CA378980410 rs1162516129	227	G>D		No	ClinGen gnomAD
rs1162516129	227	G>D		No	gnomAD
rs753739972	227	G>R		No	ExAC gnomAD
rs753739972 CA5783867	227	G>R		No	ClinGen ExAC gnomAD
CA378981279 rs753739972	227	G>S		No	ClinGen ExAC gnomAD
rs753739972	227	G>S		No	ExAC gnomAD
rs553220620 CA5783822	228	P>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs553220620	228	P>A		No	1000Genomes ExAC TOPMed gnomAD
rs553220620	228	P>S		No	1000Genomes ExAC TOPMed gnomAD
CA5783821 rs553220620	228	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1156894268 CA378980390	229	G>E		No	ClinGen TOPMed gnomAD
rs1156894268	229	G>E		No	TOPMed gnomAD
rs35529969	229	G>R		No	Ensembl
CA216911524 rs35529969	229	G>R		No	ClinGen Ensembl
rs1418453634	230	L>V		No	gnomAD
rs1418453634 CA378980387	230	L>V		No	ClinGen gnomAD
rs191100374	231	P>S		No	1000Genomes ExAC TOPMed gnomAD
CA5783820 rs191100374	231	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs777098681	234	E>K		No	ExAC gnomAD
CA5783818 rs777098681	234	E>K		No	ClinGen ExAC gnomAD
rs1589920808	236	Y>*		No	Ensembl
CA378980310 rs1589920808	236	Y>*		No	ClinGen Ensembl
CA216911518 rs923724424	236	Y>C		No	ClinGen Ensembl
rs923724424	236	Y>C		No	Ensembl
rs760665585 CA5783816	237	G>W		No	ClinGen ExAC gnomAD
rs760665585	237	G>W		No	ExAC gnomAD
rs1322840804	238	W>*		No	TOPMed
rs1322840804 CA378980280	238	W>*		No	ClinGen TOPMed
rs772123983 CA5783814	240	V>A		No	ClinGen ExAC gnomAD
rs772123983	240	V>A		No	ExAC gnomAD
rs772123983 CA378980258	240	V>G		No	ClinGen ExAC gnomAD
rs772123983	240	V>G		No	ExAC gnomAD
CA378980266 rs773399071	240	V>I		No	ClinGen ExAC gnomAD
rs773399071	240	V>I		No	ExAC gnomAD
rs773399071	240	V>L		No	ExAC gnomAD
CA5783815 rs773399071	240	V>L		No	ClinGen ExAC gnomAD
rs1366315134	241	E>A		No	TOPMed
rs1366315134 CA378980249	241	E>A		No	ClinGen TOPMed
CA5783812 rs775381446	242	T>M		No	ClinGen ExAC TOPMed
rs775381446	242	T>M		No	ExAC TOPMed
rs149567022	243	T>A		No	ESP ExAC TOPMed gnomAD
rs149567022 CA5783811	243	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA378980223 rs745709419	243	T>N		No	ClinGen ExAC TOPMed gnomAD
rs745709419	243	T>N		No	ExAC TOPMed gnomAD
rs149567022 CA216911506	243	T>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs149567022	243	T>P		No	ESP ExAC TOPMed gnomAD
rs745709419	243	T>S		No	ExAC TOPMed gnomAD
CA5783810 rs745709419	243	T>S		No	ClinGen ExAC TOPMed gnomAD
rs970606647 CA216911504	244	P>L		No	ClinGen Ensembl
rs970606647	244	P>L		No	Ensembl
CA216911501 rs373936700	245	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs373936700	245	S>R		No	ESP ExAC TOPMed gnomAD
rs373936700	245	S>R		No	ESP ExAC TOPMed gnomAD
rs373936700 CA5783808	245	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1210153699	246	P>A		No	TOPMed
CA378980188 rs1210153699	246	P>A		No	ClinGen TOPMed
CA5783807 rs746492654	246	P>R		No	ClinGen ExAC gnomAD
rs746492654	246	P>R		No	ExAC gnomAD
rs752426726 CA5783804	247	G>E		No	ClinGen ExAC TOPMed gnomAD
rs752426726	247	G>E		No	ExAC TOPMed gnomAD
rs201379782	247	G>R		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1034388681 CA216911491	248	P>T		No	ClinGen TOPMed gnomAD
rs1034388681	248	P>T		No	TOPMed gnomAD
rs1424376719	249	Q>R		No	TOPMed
rs1424376719 CA378980149	249	Q>R		No	ClinGen TOPMed
rs746429600	250	P>R		No	ExAC gnomAD
CA5783801 rs746429600	250	P>R		No	ClinGen ExAC gnomAD
rs765538842	250	P>T		No	ExAC TOPMed gnomAD
rs765538842 CA5783802	250	P>T		No	ClinGen ExAC TOPMed gnomAD
rs766856831	251	A>E		No	ExAC gnomAD
rs766856831 CA378980123	251	A>E		No	ClinGen ExAC gnomAD
rs888494437	251	A>P		No	TOPMed
CA378980127 rs888494437	251	A>T		No	ClinGen TOPMed
rs888494437	251	A>T		No	TOPMed
rs766856831	251	A>V		No	ExAC gnomAD
CA5783797 rs766856831	251	A>V		No	ClinGen ExAC gnomAD
CA5783796 rs200579991	254	T>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs200579991	254	T>A		No	1000Genomes ESP ExAC TOPMed gnomAD
CA5783795 rs571836045	254	T>M		No	ClinGen 1000Genomes ExAC gnomAD
rs571836045	254	T>M		No	1000Genomes ExAC gnomAD
CA216911453 rs200579991	254	T>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs200579991	254	T>P		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1041274997 CA216911446	255	T>I		No	ClinGen TOPMed
rs1041274997	255	T>I		No	TOPMed
CA378980007 rs1589920148	256	G>A		No	ClinGen Ensembl
rs1589920148	256	G>A		No	Ensembl
rs369330126	256	G>C		No	ESP ExAC TOPMed gnomAD
rs369330126	256	G>R		No	ESP ExAC TOPMed gnomAD
rs369330126 CA378980076	256	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs369330126	256	G>S		No	ESP ExAC TOPMed gnomAD
rs369330126 CA5783794	256	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs758655025	257	E>D		No	ExAC TOPMed gnomAD
CA378979989 rs758655025	257	E>D		No	ClinGen ExAC TOPMed gnomAD
rs1160609325	257	E>K		No	TOPMed gnomAD
CA378979999 rs1160609325	257	E>K		No	ClinGen TOPMed gnomAD
CA378979984 rs1363663234	258	A>T		No	ClinGen gnomAD
rs1363663234	258	A>T		No	gnomAD
rs138137517	258	A>V		No	1000Genomes ESP ExAC TOPMed gnomAD
rs138137517 CA5783752	258	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5783750 rs760511367	259	A>G		No	ClinGen ExAC TOPMed gnomAD
rs760511367	259	A>G		No	ExAC TOPMed gnomAD
rs544913425	259	A>P		No	1000Genomes ExAC TOPMed gnomAD
rs544913425 CA5783751	259	A>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs760511367 CA378979967	259	A>V		No	ClinGen ExAC TOPMed gnomAD
rs760511367	259	A>V		No	ExAC TOPMed gnomAD
rs767430088 CA378979961	260	A>S		No	ClinGen ExAC gnomAD
rs767430088	260	A>S		No	ExAC gnomAD
rs767430088 CA5783748	260	A>T		No	ClinGen ExAC gnomAD
rs767430088	260	A>T		No	ExAC gnomAD
rs761743145 CA5783747	261	P>L		No	ClinGen ExAC TOPMed gnomAD
rs761743145	261	P>L		No	ExAC TOPMed gnomAD
CA378979932 rs773806371	262	E>D		No	ClinGen ExAC TOPMed gnomAD
rs773806371	262	E>D		No	ExAC TOPMed gnomAD
rs1224263825 CA378979920	263	S>F		No	ClinGen gnomAD
rs1224263825	263	S>F		No	gnomAD
CA378979927 rs1287581738	263	S>P		No	ClinGen gnomAD
rs1287581738	263	S>P		No	gnomAD
rs768173551 CA5783744	264	P>L		No	ClinGen ExAC gnomAD
rs768173551	264	P>L		No	ExAC gnomAD
rs1344087331	265	H>Q		No	TOPMed
CA378979904 rs1344087331	265	H>Q		No	ClinGen TOPMed
rs1345971016 CA378979909	265	H>Y		No	ClinGen gnomAD
rs1345971016	265	H>Y		No	gnomAD
CA378979897 rs1386319897	266	Q>H		No	ClinGen TOPMed gnomAD
rs1386319897	266	Q>H		No	TOPMed gnomAD
CA5783742 rs775175190	266	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs775175190	266	Q>R		No	ExAC TOPMed gnomAD
rs781427392	267	A>E		No	ExAC TOPMed gnomAD
CA378979894 rs781427392	267	A>E		No	ClinGen ExAC TOPMed gnomAD
rs781427392	267	A>G		No	ExAC TOPMed gnomAD
rs781427392 CA5783740	267	A>G		No	ClinGen ExAC TOPMed gnomAD
rs769401694 CA5783741	267	A>T		No	ClinGen ExAC gnomAD
rs769401694	267	A>T		No	ExAC gnomAD
CA5783739 rs781427392	267	A>V		No	ClinGen ExAC TOPMed gnomAD
rs781427392	267	A>V		No	ExAC TOPMed gnomAD
rs747550236	268	E>D		No	ExAC TOPMed gnomAD
CA5783738 rs747550236	268	E>D		No	ClinGen ExAC TOPMed gnomAD
rs949152008	269	P>L		No	gnomAD
rs949152008 CA378979882	269	P>L		No	ClinGen gnomAD
CA216911196 rs949152008	269	P>R		No	ClinGen gnomAD
rs949152008	269	P>R		No	gnomAD
rs1480503506 CA378979884	269	P>S		No	ClinGen gnomAD
rs1480503506	269	P>S		No	gnomAD
rs990618165 CA216911185	270	Y>D		No	ClinGen gnomAD
rs990618165	270	Y>D		No	gnomAD
rs990618165 CA378979874	270	Y>H		No	ClinGen gnomAD
rs990618165	270	Y>H		No	gnomAD
rs150912530	271	L>P		No	1000Genomes ESP ExAC TOPMed gnomAD
CA5783734 rs150912530	271	L>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA378979845 rs1445051397	272	S>L		No	ClinGen gnomAD
rs1445051397	272	S>L		No	gnomAD
CA5783733 rs765482217	272	S>T		No	ClinGen ExAC gnomAD
rs765482217	272	S>T		No	ExAC gnomAD
rs1204186673	273	P>R		No	gnomAD
CA378979835 rs1204186673	273	P>R		No	ClinGen gnomAD
rs755167282 CA5783732	273	P>S		No	ClinGen ExAC TOPMed gnomAD
rs755167282	273	P>S		No	ExAC TOPMed gnomAD
rs1281490497 CA378979822	274	S>C		No	ClinGen TOPMed gnomAD
rs1281490497	274	S>C		No	TOPMed gnomAD
rs1281490497 CA378979820	274	S>F		No	ClinGen TOPMed gnomAD
rs1281490497	274	S>F		No	TOPMed gnomAD
rs1564881921	274	S>T		No	Ensembl
rs1564881921 CA378979830	274	S>T		No	ClinGen Ensembl
rs767246795 CA5783730	275	P>R		No	ClinGen ExAC gnomAD
rs767246795	275	P>R		No	ExAC gnomAD
rs1025682991	275	P>S		No	Ensembl
CA216911178 rs1025682991	275	P>S		No	ClinGen Ensembl
CA5783729 rs761685941	276	S>N		No	ClinGen ExAC TOPMed gnomAD
rs761685941	276	S>N		No	ExAC TOPMed gnomAD
rs774247150	276	S>R		No	ExAC TOPMed gnomAD
rs774247150 CA216911176	276	S>R		No	ClinGen ExAC TOPMed gnomAD
rs764056720	277	A>T		No	ExAC gnomAD
rs764056720 CA5783727	277	A>T		No	ClinGen ExAC gnomAD
rs1364886914	277	A>V		No	gnomAD
CA378979787 rs1364886914	277	A>V		No	ClinGen gnomAD
CA5783726 rs762448644	279	T>N		No	ClinGen ExAC gnomAD
rs762448644	279	T>N		No	ExAC gnomAD
rs774924259	280	A>T		No	ExAC gnomAD
rs774924259 CA5783725	280	A>T		No	ClinGen ExAC gnomAD
rs1564881781	280	A>V		No	Ensembl
rs965400406	282	Q>L		No	Ensembl
rs965400406 CA216911108	282	Q>L		No	ClinGen Ensembl
rs1426356865 CA378979724	283	E>D		No	ClinGen TOPMed gnomAD
rs1426356865	283	E>D		No	TOPMed gnomAD
rs769433665 CA5783722	283	E>K		No	ClinGen ExAC TOPMed gnomAD
rs769433665	283	E>K		No	ExAC TOPMed gnomAD
rs769433665 CA378979740	283	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs769433665	283	E>Q		No	ExAC TOPMed gnomAD
CA378979723 rs750074456	284	P>A		No	ClinGen ExAC TOPMed gnomAD
rs750074456	284	P>A		No	ExAC TOPMed gnomAD
rs1163743239 CA378979720	284	P>L		No	ClinGen TOPMed gnomAD
rs1163743239	284	P>L		No	TOPMed gnomAD
rs750074456	284	P>S		No	ExAC TOPMed gnomAD
CA5783653 rs750074456	284	P>S		No	ClinGen ExAC TOPMed gnomAD
CA5783654 rs750074456	284	P>T		No	ClinGen ExAC TOPMed gnomAD
rs750074456	284	P>T		No	ExAC TOPMed gnomAD
CA216910778 rs538772745	285	S>R		No	ClinGen ExAC TOPMed gnomAD
rs538772745	285	S>R		No	ExAC TOPMed gnomAD
rs538772745	285	S>R		No	ExAC TOPMed gnomAD
rs538772745 CA5783650	285	S>R		No	ClinGen ExAC TOPMed gnomAD
CA5783652 rs192177735	285	S>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs192177735	285	S>T		No	ESP ExAC TOPMed gnomAD
rs1180130455	286	P>S		No	gnomAD
CA378979712 rs1180130455	286	P>S		No	ClinGen gnomAD
rs763456786	287	G>A		No	ExAC TOPMed gnomAD
rs764449303	287	G>R		No	ExAC gnomAD
CA5783649 rs764449303	287	G>R		No	ClinGen ExAC gnomAD
rs775508596	288	A>V		No	ExAC gnomAD
CA5783647 rs775508596	288	A>V		No	ClinGen ExAC gnomAD
CA378979696 rs1216903707	289	L>P		No	ClinGen TOPMed gnomAD
rs1216903707	289	L>P		No	TOPMed gnomAD
rs769885300 CA5783646	289	L>V		No	ClinGen ExAC TOPMed gnomAD
rs769885300	289	L>V		No	ExAC TOPMed gnomAD
CA378979691 rs1259533157	290	D>E		No	ClinGen TOPMed
rs1259533157	290	D>E		No	TOPMed
rs368953537	290	D>G		No	ESP ExAC TOPMed gnomAD
rs965369705	290	D>H		No	gnomAD
rs965369705 CA216910750	290	D>H		No	ClinGen gnomAD
rs1226109716	291	V>M		No	TOPMed gnomAD
CA378979689 rs1226109716	291	V>M		No	ClinGen TOPMed gnomAD
rs1417388612	292	T>I		No	TOPMed
CA378979678 rs1417388612	292	T>I		No	ClinGen TOPMed
CA5783641 rs778770424	293	I>T		No	ClinGen ExAC gnomAD
rs778770424	293	I>T		No	ExAC gnomAD
rs747884435	293	I>V		No	ExAC gnomAD
rs747884435 CA5783642	293	I>V		No	ClinGen ExAC gnomAD
CA378979667 rs754828739	294	M>K		No	ClinGen ExAC TOPMed gnomAD
rs754828739	294	M>K		No	ExAC TOPMed gnomAD
rs754828739	294	M>T		No	ExAC TOPMed gnomAD
rs754828739 CA5783640	294	M>T		No	ClinGen ExAC TOPMed gnomAD
rs1388076363 CA378979671	294	M>V		No	ClinGen gnomAD
rs1388076363	294	M>V		No	gnomAD
rs563684691	297	G>A		No	1000Genomes ExAC gnomAD
rs563684691 CA5783638	297	G>A		No	ClinGen 1000Genomes ExAC gnomAD
rs749257164	297	G>S		No	ExAC TOPMed gnomAD
CA5783639 rs749257164	297	G>S		No	ClinGen ExAC TOPMed gnomAD
CA5783637 rs755654133	298	R>C		No	ClinGen ExAC gnomAD
rs755654133	298	R>C		No	ExAC gnomAD
CA378979613 rs1472330020	298	R>H		No	ClinGen gnomAD
rs1472330020	298	R>H		No	gnomAD
rs985540527	299	T>A		No	Ensembl
rs985540527 CA216910714	299	T>A		No	ClinGen Ensembl
rs1201625244	300	V>M		No	gnomAD
rs1201625244 CA378979597	300	V>M		No	ClinGen gnomAD
rs1431693328	301	L>P		No	gnomAD
rs1431693328 CA378979584	301	L>P		No	ClinGen gnomAD
CA216910702 rs1023415685	302	Q>*		No	ClinGen TOPMed
rs1023415685	302	Q>*		No	TOPMed
CA5783635 rs767062572	302	Q>P		No	ClinGen ExAC gnomAD
rs767062572	302	Q>P		No	ExAC gnomAD
rs373394984	304	V>E		No	ESP ExAC TOPMed gnomAD
CA5783634 rs373394984	304	V>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs1377860641	304	V>L		No	TOPMed
CA378979550 rs1377860641	304	V>L		No	ClinGen TOPMed
CA378979552 rs1377860641	304	V>M		No	ClinGen TOPMed
rs1377860641	304	V>M		No	TOPMed
CA378979535 rs1274849792	305	V>A		No	ClinGen gnomAD
rs1274849792	305	V>A		No	gnomAD
rs1311792827 CA378979542	305	V>M		No	ClinGen TOPMed
rs1311792827	305	V>M		No	TOPMed
rs1266823042	306	G>E		No	gnomAD
rs1266823042 CA378979525	306	G>E		No	ClinGen gnomAD
rs1487051117	306	G>R		No	gnomAD
CA378979529 rs1487051117	306	G>R		No	ClinGen gnomAD
rs543492536	307	H>Y		No	1000Genomes ExAC TOPMed gnomAD
rs543492536 CA5783633	307	H>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1392722748	308	P>L		No	TOPMed
rs1392722748 CA378979498	308	P>L		No	ClinGen TOPMed
rs1263250882	308	P>S		No	gnomAD
CA216910678 rs1001441736	309	S>R		No	ClinGen TOPMed
rs1001441736	309	S>R		No	TOPMed
rs1316050042	312	F>L		No	TOPMed
rs1316050042 CA378979454	312	F>L		No	ClinGen TOPMed
rs1339727500	313	L>P		No	gnomAD
CA378979437 rs1339727500	313	L>P		No	ClinGen gnomAD
CA5783631 rs763403132	314	Y>*		No	ClinGen ExAC gnomAD
rs763403132	314	Y>*		No	ExAC gnomAD
CA378979410 rs1382640772	315	G>D		No	ClinGen TOPMed gnomAD
rs1382640772	315	G>D		No	TOPMed gnomAD
rs775954204	315	G>S		No	ExAC TOPMed gnomAD
CA5783630 rs775954204	315	G>S		No	ClinGen ExAC TOPMed gnomAD
rs776833814 CA5783627	317	P>L		No	ClinGen ExAC gnomAD
rs776833814	317	P>L		No	ExAC gnomAD
rs776833814 CA378979389	317	P>R		No	ClinGen ExAC gnomAD
rs776833814	317	P>R		No	ExAC gnomAD
rs759611361	317	P>S		No	ExAC gnomAD
rs759611361 CA5783629	317	P>S		No	ClinGen ExAC gnomAD
rs759611361	317	P>T		No	ExAC gnomAD
CA5783628 rs759611361	317	P>T		No	ClinGen ExAC gnomAD
rs1464598658 CA378979362	320	A>T		No	ClinGen gnomAD
rs1464598658	320	A>T		No	gnomAD
rs1589918480	321	V>A		No	Ensembl
rs1589918480 CA378979344	321	V>A		No	ClinGen Ensembl
rs760985507	321	V>F		No	ExAC gnomAD
rs760985507 CA5783626	321	V>F		No	ClinGen ExAC gnomAD
rs760985507 CA5783625	321	V>L		No	ClinGen ExAC gnomAD
rs760985507	321	V>L		No	ExAC gnomAD
CA5783622 rs780135940	322	R>P		No	ClinGen ExAC TOPMed gnomAD
rs780135940	322	R>P		No	ExAC TOPMed gnomAD
rs780135940	322	R>Q		No	ExAC TOPMed gnomAD
CA5783621 rs780135940	322	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs768545640	322	R>W		No	ExAC TOPMed gnomAD
CA5783623 rs768545640	322	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1434331197 CA378979323	324	T>A		No	ClinGen gnomAD
rs1434331197	324	T>A		No	gnomAD
rs769910286 CA5783619	324	T>K		No	ClinGen ExAC gnomAD
rs769910286	324	T>K		No	ExAC gnomAD
rs896176485	325	D>H		No	Ensembl
rs896176485 CA216910594	325	D>H		No	ClinGen Ensembl
rs1054867146	326	P>T		No	Ensembl
rs1054867146 CA216910589	326	P>T		No	ClinGen Ensembl
rs1251519354 CA378979266	328	Q>H		No	ClinGen TOPMed
rs1251519354	328	Q>H		No	TOPMed
CA5783616 rs780756478	329	V>A		No	ClinGen ExAC gnomAD
rs780756478	329	V>A		No	ExAC gnomAD
rs745316844 CA5783617	329	V>I		No	ClinGen ExAC gnomAD
rs745316844	329	V>I		No	ExAC gnomAD
rs1564880698	330	A>T		No	Ensembl
rs1564880698 CA378979249	330	A>T		No	ClinGen Ensembl
rs1227678222	331	F>L		No	gnomAD
CA378979231 rs1227678222	331	F>L		No	ClinGen gnomAD
rs756822988	333	S>C		No	ExAC TOPMed gnomAD
rs756822988 CA5783615	333	S>C		No	ClinGen ExAC TOPMed gnomAD
rs1295169574	333	S>N		No	TOPMed gnomAD
rs777340532 CA378979196	334	P>L		No	ClinGen ExAC TOPMed gnomAD
rs777340532	334	P>L		No	ExAC TOPMed gnomAD
rs777340532 CA5783613	334	P>R		No	ClinGen ExAC TOPMed gnomAD
rs777340532	334	P>R		No	ExAC TOPMed gnomAD
rs1397398028	334	P>S		No	TOPMed
rs1397398028 CA378979200	334	P>S		No	ClinGen TOPMed
CA5783612 rs758734626	336	E>K		No	ClinGen ExAC TOPMed gnomAD
rs758734626	336	E>K		No	ExAC TOPMed gnomAD
rs753132080	336	E>V		No	ExAC gnomAD
CA5783611 rs753132080	336	E>V		No	ClinGen ExAC gnomAD
CA5783608 rs369518038	339	D>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs369518038	339	D>H		No	ESP ExAC TOPMed gnomAD
rs1445612040	340	Q>*		No	gnomAD
rs1445612040 CA378979140	340	Q>*		No	ClinGen gnomAD
rs760713556	340	Q>L		No	ExAC gnomAD
CA5783606 rs760713556	340	Q>L		No	ClinGen ExAC gnomAD
CA378979130 rs1254902468	341	K>N		No	ClinGen gnomAD
rs1254902468	341	K>N		No	gnomAD
rs773449908	341	K>Q		No	ExAC gnomAD
rs773449908 CA5783605	341	K>Q		No	ClinGen ExAC gnomAD
CA5783604 rs772489286	342	Q>E		No	ClinGen ExAC gnomAD
rs772489286	342	Q>E		No	ExAC gnomAD
rs1483835403 CA378979114	344	R>C		No	ClinGen gnomAD
rs1483835403	344	R>C		No	gnomAD
rs762828447 CA5783603	344	R>H		No	ClinGen ExAC TOPMed gnomAD
rs762828447	344	R>H		No	ExAC TOPMed gnomAD
rs1227478459	346	T>A		No	gnomAD
rs1227478459 CA378979102	346	T>A		No	ClinGen gnomAD
rs983651712	346	T>M		No	TOPMed gnomAD
rs983651712 CA216910463	346	T>M		No	ClinGen TOPMed gnomAD
rs1242541085	347	E>G		No	gnomAD
rs1242541085 CA378979094	347	E>G		No	ClinGen gnomAD
CA5783601 rs769786013	348	E>K		No	ClinGen ExAC gnomAD
rs769786013	348	E>K		No	ExAC gnomAD
CA5783600 rs138994176	350	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs138994176	350	L>V		No	ESP ExAC TOPMed gnomAD
rs777401747 CA5783596	351	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs777401747	351	R>Q		No	ExAC TOPMed gnomAD
rs746541898	351	R>W		No	ExAC gnomAD
CA5783597 rs746541898	351	R>W		No	ClinGen ExAC gnomAD
rs753003737	352	H>Q		No	ExAC TOPMed gnomAD
CA5783595 rs753003737	352	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA378979045 rs1472777001	354	A>V		No	ClinGen gnomAD
rs1472777001	354	A>V		No	gnomAD
rs1364814025	355	P>A		No	TOPMed gnomAD
rs1364814025 CA378979041	355	P>A		No	ClinGen TOPMed gnomAD
rs755426090 CA5783592	356	G>E		No	ClinGen ExAC gnomAD
rs755426090	356	G>E		No	ExAC gnomAD
rs557998853 CA5783593	356	G>R		No	ClinGen 1000Genomes ExAC gnomAD
rs557998853	356	G>R		No	1000Genomes ExAC gnomAD
rs557998853	356	G>R		No	1000Genomes ExAC gnomAD
CA378979032 rs557998853	356	G>R		No	ClinGen 1000Genomes ExAC gnomAD
CA378979007 rs1589918026	358	H>Y		No	ClinGen Ensembl
rs1589918026	358	H>Y		No	Ensembl
rs1203970795	359	L>P		No	gnomAD
rs1203970795 CA378978989	359	L>P		No	ClinGen gnomAD
rs1490397000 CA378978984	360	E>*		No	ClinGen gnomAD
rs1490397000	360	E>*		No	gnomAD
rs376570562	360	E>V		No	ESP ExAC TOPMed gnomAD
rs376570562 CA5783590	360	E>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs372256434 CA216910416	361	L>I		No	ClinGen ESP
rs372256434	361	L>I		No	ESP
CA216910409 rs760800493	362	R>P		No	ClinGen ExAC TOPMed gnomAD
rs760800493	362	R>P		No	ExAC TOPMed gnomAD
CA5783588 rs760800493	362	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs760800493	362	R>Q		No	ExAC TOPMed gnomAD
rs1564880372	362	R>W		No	Ensembl
rs1564880372 CA378978958	362	R>W		No	ClinGen Ensembl
rs1280048947	363	G>E		No	gnomAD
rs1280048947 CA378978947	363	G>E		No	ClinGen gnomAD
rs1405808971	365	Q>E		No	TOPMed gnomAD
rs1405808971 CA378978929	365	Q>E		No	ClinGen TOPMed gnomAD
rs767789503	365	Q>H		No	ExAC gnomAD
CA5783586 rs767789503	365	Q>H		No	ClinGen ExAC gnomAD
CA5783584 rs762128931	368	A>D		No	ClinGen ExAC gnomAD
rs762128931	368	A>D		No	ExAC gnomAD
CA378978909 rs1386386997	368	A>T		No	ClinGen gnomAD
rs1386386997	368	A>T		No	gnomAD
rs779495519 CA216910388	369	R>G		No	ClinGen ExAC TOPMed gnomAD
rs779495519	369	R>G		No	ExAC TOPMed gnomAD
rs765147452 CA378978904	369	R>P		No	ClinGen ExAC TOPMed gnomAD
rs765147452	369	R>P		No	ExAC TOPMed gnomAD
rs765147452 CA5783582	369	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs765147452	369	R>Q		No	ExAC TOPMed gnomAD
rs779495519	369	R>W		No	ExAC TOPMed gnomAD
rs779495519 CA5783583	369	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1311553182	370	R>H		No	gnomAD
CA378978899 rs1311553182	370	R>H		No	ClinGen gnomAD
rs1311553182	370	R>P		No	gnomAD
CA378978898 rs1311553182	370	R>P		No	ClinGen gnomAD
CA378978891 rs1213525208	371	M>I		No	ClinGen TOPMed
rs1213525208	371	M>I		No	TOPMed
rs957792868	371	M>V		No	TOPMed
CA216910381 rs957792868	371	M>V		No	ClinGen TOPMed
CA378978882 rs1245462194	373	K>E		No	ClinGen TOPMed
rs1245462194	373	K>E		No	TOPMed
CA378978878 rs776600480	373	K>M		No	ClinGen ExAC TOPMed gnomAD
rs776600480	373	K>M		No	ExAC TOPMed gnomAD
rs145109888	373	K>N		No	ESP ExAC gnomAD
rs145109888 CA378978876	373	K>N		No	ClinGen ESP ExAC gnomAD
CA5783580 rs776600480	373	K>T		No	ClinGen ExAC TOPMed gnomAD
rs776600480	373	K>T		No	ExAC TOPMed gnomAD
rs772725374 CA378978859	375	K>N		No	ClinGen ExAC TOPMed gnomAD
rs772725374	375	K>N		No	ExAC TOPMed gnomAD
rs1450820294 CA378978864	375	K>R		No	ClinGen TOPMed gnomAD
rs1450820294	375	K>R		No	TOPMed gnomAD
CA378978817 rs979593621	378	W>*		No	ClinGen gnomAD
rs979593621	378	W>*		No	gnomAD
rs979593621 CA216910368	378	W>C		No	ClinGen gnomAD
rs979593621	378	W>C		No	gnomAD
rs1267623449	378	W>R		No	gnomAD
CA378978826 rs1267623449	378	W>R		No	ClinGen gnomAD
rs1166563090 CA378978820	378	W>S		No	ClinGen TOPMed
rs1166563090	378	W>S		No	TOPMed
CA5783575 rs747818359	379	E>A		No	ClinGen ExAC TOPMed gnomAD
rs747818359	379	E>A		No	ExAC TOPMed gnomAD
rs368953784 CA5783574	381	G>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs368953784	381	G>C		No	ESP ExAC TOPMed gnomAD
rs1321391590 CA378978779	381	G>D		No	ClinGen TOPMed
rs1321391590	381	G>D		No	TOPMed
rs749678457 CA5783572	382	G>R		No	ClinGen ExAC TOPMed gnomAD
rs749678457	382	G>R		No	ExAC TOPMed gnomAD
rs1308715041 CA378978757	383	P>L		No	ClinGen gnomAD
rs1308715041	383	P>L		No	gnomAD
CA378978752 rs1216950384	384	P>A		No	ClinGen TOPMed
rs1216950384	384	P>A		No	TOPMed
rs767736050	385	G>A		No	ExAC TOPMed gnomAD
CA5783567 rs767736050	385	G>A		No	ClinGen ExAC TOPMed gnomAD
CA5783568 rs750448993	385	G>S		No	ClinGen ExAC gnomAD
rs750448993	385	G>S		No	ExAC gnomAD
CA378978732 rs767736050	385	G>V		No	ClinGen ExAC TOPMed gnomAD
rs767736050	385	G>V		No	ExAC TOPMed gnomAD
rs757506612	386	S>P		No	ExAC gnomAD
CA5783566 rs757506612	386	S>P		No	ClinGen ExAC gnomAD
rs572572807 CA5783562	387	A>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs572572807	387	A>P		No	1000Genomes ExAC TOPMed gnomAD
rs572572807 CA5783563	387	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs572572807	387	A>T		No	1000Genomes ExAC TOPMed gnomAD
rs1190228734 CA378978700	388	S>I		No	ClinGen gnomAD
rs1190228734	388	S>I		No	gnomAD
rs1242512929	388	S>R		No	gnomAD
rs1242512929 CA378978707	388	S>R		No	ClinGen gnomAD
rs760536724	389	P>S		No	ExAC TOPMed gnomAD
rs760536724 CA5783560	389	P>S		No	ClinGen ExAC TOPMed gnomAD
CA378978687 rs1204451825	390	S>C		No	ClinGen TOPMed gnomAD
rs1204451825	390	S>C		No	TOPMed gnomAD
CA378978685 rs1314019848	391	T>P		No	ClinGen gnomAD
rs1314019848	391	T>P		No	gnomAD
rs1218886774	392	P>L		No	TOPMed gnomAD
rs1218886774 CA378978674	392	P>L		No	ClinGen TOPMed gnomAD
rs1218886774	392	P>Q		No	TOPMed gnomAD
rs1218886774 CA378978675	392	P>Q		No	ClinGen TOPMed gnomAD
rs1340268102	393	A>T		No	TOPMed gnomAD
CA378978672 rs1340268102	393	A>T		No	ClinGen TOPMed gnomAD
CA378978664 rs1257744960	394	C>G		No	ClinGen TOPMed
rs1257744960	394	C>G		No	TOPMed
rs771545271	395	L>R		No	ExAC TOPMed gnomAD
rs771545271 CA5783558	395	L>R		No	ClinGen ExAC TOPMed gnomAD
rs1448178495 CA378978622	397	P>L		No	ClinGen gnomAD
rs1448178495	397	P>L		No	gnomAD
rs768248464 CA5783554	398	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs768248464	398	R>Q		No	ExAC TOPMed gnomAD
rs1412151087	398	R>W		No	TOPMed gnomAD
rs1412151087 CA378978616	398	R>W		No	ClinGen TOPMed gnomAD
rs1170269409	399	N>K		No	gnomAD
CA378978597 rs1170269409	399	N>K		No	ClinGen gnomAD
rs1401080717 CA378978575	401	D>N		No	ClinGen TOPMed
rs1401080717	401	D>N		No	TOPMed
CA5783553 rs749608310	401	D>V		No	ClinGen ExAC gnomAD
rs749608310	401	D>V		No	ExAC gnomAD
rs1039452743	402	T>I		No	TOPMed
rs1039452743 CA216910267	402	T>I		No	ClinGen TOPMed
rs371452982	403	P>H		No	ESP ExAC TOPMed gnomAD
rs371452982 CA5783552	403	P>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs371452982	403	P>L		No	ESP ExAC TOPMed gnomAD
rs371452982 CA5783551	403	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1484166244	404	I>V		No	TOPMed gnomAD
rs1484166244 CA378978541	404	I>V		No	ClinGen TOPMed gnomAD
CA378978516 rs781777277	405	F>L		No	ClinGen ExAC TOPMed gnomAD
rs781777277	405	F>L		No	ExAC TOPMed gnomAD
rs757383689 CA5783548	406	D>N		No	ClinGen ExAC TOPMed gnomAD
rs757383689	406	D>N		No	ExAC TOPMed gnomAD
rs764365065	408	R>S		No	ExAC gnomAD
CA5783546 rs764365065	408	R>S		No	ClinGen ExAC gnomAD
CA378978466 rs1341854726	409	V>I		No	ClinGen gnomAD
rs1341854726	409	V>I		No	gnomAD
rs786205223	410	F>V		No	TOPMed
rs1230556415	411	F>L		No	gnomAD
CA378978437 rs1230556415	411	F>L		No	ClinGen gnomAD
rs1461178184	412	Q>H		No	TOPMed
rs1461178184 CA378978407	412	Q>H		No	ClinGen TOPMed
rs1461178184	412	Q>H		No	TOPMed
rs1461178184 CA378978408	412	Q>H		No	ClinGen TOPMed
rs1131665 CA5783544	412	Q>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1589917435	412	Q>R		No	Ensembl
CA915948747 rs1589917435	412	Q>R		No	ClinGen Ensembl
rs1131665	412	Q>R		No	1000Genomes ESP ExAC TOPMed gnomAD
rs753604903	413	E>K		No	ExAC TOPMed gnomAD
CA378978403 rs753604903	413	E>K		No	ClinGen ExAC TOPMed gnomAD
rs753604903	413	E>Q		No	ExAC TOPMed gnomAD
rs753604903 CA5783543	413	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs1564879612 CA378978351	413	E>V		No	ClinGen Ensembl
rs1564879612	413	E>V		No	Ensembl
rs755896373	414	L>P		No	ExAC TOPMed
rs755896373 CA5783522	414	L>P		No	ClinGen ExAC TOPMed
CA5783523 rs138601170	414	L>V		No	ClinGen ESP ExAC gnomAD
rs138601170	414	L>V		No	ESP ExAC gnomAD
rs373690626 CA216910151	415	V>A		No	ClinGen ESP TOPMed
rs373690626	415	V>A		No	ESP TOPMed
rs368955367	415	V>M		No	ESP ExAC gnomAD
rs368955367 CA5783521	415	V>M		No	ClinGen ESP ExAC gnomAD
rs1193344169	416	E>A		No	gnomAD
CA378978321 rs1193344169	416	E>A		No	ClinGen gnomAD
rs1281671414 CA378978327	416	E>K		No	ClinGen TOPMed
rs1281671414	416	E>K		No	TOPMed
rs142523418	418	R>Q		No	1000Genomes ExAC TOPMed gnomAD
CA5783519 rs142523418	418	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs944667389	418	R>W		No	TOPMed gnomAD
CA216910148 rs944667389	418	R>W		No	ClinGen TOPMed gnomAD
CA378978287 rs1209884854	419	A>T		No	ClinGen TOPMed gnomAD
rs1209884854	419	A>T		No	TOPMed gnomAD
rs377416331	420	R>P		No	ESP ExAC TOPMed gnomAD
rs377416331 CA378977202	420	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs377416331	420	R>Q		No	ESP ExAC TOPMed gnomAD
CA5783517 rs377416331	420	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs143070036 CA5783518	420	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs143070036	420	R>W		No	1000Genomes ESP ExAC TOPMed gnomAD
rs375323253	421	Q>*		No	ESP ExAC TOPMed gnomAD
rs774975476	421	Q>H		No	ExAC gnomAD
CA5783516 rs774975476	421	Q>H		No	ClinGen ExAC gnomAD
rs775126859	422	R>C		No	ExAC TOPMed gnomAD
CA5783515 rs775126859	422	R>C		No	ClinGen ExAC TOPMed gnomAD
rs1388334813 CA378977173	422	R>H		No	ClinGen TOPMed gnomAD
rs1388334813	422	R>H		No	TOPMed gnomAD
rs1394474419	423	R>C		No	TOPMed
CA378977163 rs1394474419	423	R>C		No	ClinGen TOPMed
CA5783514 rs149039709	423	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs149039709	423	R>H		No	1000Genomes ESP ExAC TOPMed gnomAD
rs149039709	423	R>P		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1398771669 CA378977131	424	G>D		No	ClinGen TOPMed
rs1398771669	424	G>D		No	TOPMed
rs1390666233	425	S>F		No	gnomAD
rs1390666233 CA378977106	425	S>F		No	ClinGen gnomAD
rs201165872	427	R>C		No	1000Genomes ExAC TOPMed gnomAD
COSM123781 CA5783510 rs201165872	427	R>C	upper_aerodigestive_tract [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs772011524	427	R>H		No	ExAC TOPMed gnomAD
rs772011524 CA5783509	427	R>H		No	ClinGen ExAC TOPMed gnomAD
CA216908756 rs1030581700	429	T>A		No	ClinGen TOPMed
rs1030581700	429	T>A		No	TOPMed
rs1331087922	429	T>S		No	TOPMed
CA378977012 rs1331087922	429	T>S		No	ClinGen TOPMed
rs778988142	430	I>V		No	ExAC gnomAD
CA5783507 rs778988142	430	I>V		No	ClinGen ExAC gnomAD
rs1271387589 CA378976973	431	Y>C		No	ClinGen TOPMed
rs1271387589	431	Y>C		No	TOPMed
CA378976985 rs1189537370	431	Y>H		No	ClinGen gnomAD
rs1189537370	431	Y>H		No	gnomAD
rs755203402	433	G>D		No	ExAC TOPMed gnomAD
rs755203402 CA5783505	433	G>D		No	ClinGen ExAC TOPMed gnomAD
rs780994139	435	G>R		No	ExAC TOPMed gnomAD
CA5783503 rs780994139	435	G>R		No	ClinGen ExAC TOPMed gnomAD
CA378976852 rs1349291102	436	Q>R		No	ClinGen gnomAD
rs1349291102	436	Q>R		No	gnomAD
rs773112663	438	L>P		No	ExAC gnomAD
CA5783502 rs773112663	438	L>P		No	ClinGen ExAC gnomAD
rs1419573326 CA378976806	438	L>V		No	ClinGen gnomAD
rs1419573326	438	L>V		No	gnomAD
CA378976763 rs1310037828	440	A>V		No	ClinGen gnomAD
rs1310037828	440	A>V		No	gnomAD
rs1228800640	441	G>R		No	gnomAD
rs1228800640 CA378976755	441	G>R		No	ClinGen gnomAD
rs1195269535	445	E>G		No	TOPMed
CA378976645 rs1195269535	445	E>G		No	ClinGen TOPMed
rs764133862 CA5783500	445	E>K		No	ClinGen ExAC TOPMed gnomAD
rs764133862	445	E>K		No	ExAC TOPMed gnomAD
CA5783498 rs373729529	446	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs373729529	446	K>R		No	ESP ExAC TOPMed gnomAD
rs1589916871 CA378976604	447	S>C		No	ClinGen Ensembl
rs1589916871	447	S>C		No	Ensembl
CA378976569 rs1169688479	450	L>P		No	ClinGen gnomAD
rs1169688479	450	L>P		No	gnomAD
CA378976554 rs1388901046	451	V>L		No	ClinGen gnomAD
rs1388901046	451	V>L		No	gnomAD
rs1327046005	452	K>*		No	TOPMed
rs1327046005 CA378976535	452	K>*		No	ClinGen TOPMed
rs200063173	452	K>N		No	ESP TOPMed
CA216908739 rs200063173	452	K>N		No	ClinGen ESP TOPMed
CA216908532 rs1008659575	454	E>K		No	ClinGen Ensembl
rs1008659575	454	E>K		No	Ensembl
rs370946255	455	P>L		No	ESP ExAC gnomAD
rs370946255 CA5783461	455	P>L		No	ClinGen ESP ExAC gnomAD
rs758818635	456	W>*		No	ExAC gnomAD
CA5783458 rs758818635	456	W>*		No	ClinGen ExAC gnomAD
CA5783459 rs746725871	456	W>R		No	ClinGen ExAC gnomAD
rs746725871	456	W>R		No	ExAC gnomAD
rs1416558035	459	R>*		No	TOPMed gnomAD
rs1416558035 CA378976189	459	R>*		No	ClinGen TOPMed gnomAD
rs758231153	459	R>Q		No	ExAC TOPMed gnomAD
CA5783457 rs758231153	459	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA378976152 rs1473375462	460	V>G		No	ClinGen TOPMed gnomAD
rs1473375462	460	V>G		No	TOPMed gnomAD
rs1180903297 CA378976135	461	H>P		No	ClinGen gnomAD
rs1180903297	461	H>P		No	gnomAD
rs376761232 CA5783454	462	L>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs376761232	462	L>P		No	ESP ExAC TOPMed gnomAD
rs375003348	463	E>K		No	ESP ExAC TOPMed gnomAD
rs1350285168 CA378976035	464	G>D		No	ClinGen TOPMed
rs1350285168	464	G>D		No	TOPMed
rs1589916143	464	G>S		No	Ensembl
CA378976047 rs1589916143	464	G>S		No	ClinGen Ensembl
rs779790369	465	T>M		No	ExAC TOPMed gnomAD
rs779790369 CA5783452	465	T>M		No	ClinGen ExAC TOPMed gnomAD
rs1589916130	465	T>S		No	Ensembl
rs1327418695	466	Q>E		No	TOPMed gnomAD
rs1327418695 CA378975999	466	Q>E		No	ClinGen TOPMed gnomAD
rs1279188516	466	Q>H		No	gnomAD
CA378975974 rs1279188516	466	Q>H		No	ClinGen gnomAD
rs1437685846	467	R>C		No	gnomAD
rs1437685846 CA378975967	467	R>C		No	ClinGen gnomAD
rs762132411	467	R>H		No	ExAC TOPMed gnomAD
CA5783448 rs762132411	467	R>H		No	ClinGen ExAC TOPMed gnomAD
rs762132411	467	R>L		No	ExAC TOPMed gnomAD
CA5783449 rs762132411	467	R>L		No	ClinGen ExAC TOPMed gnomAD
rs1440864299	469	G>C		No	TOPMed gnomAD
CA378975917 rs1440864299	469	G>C		No	ClinGen TOPMed gnomAD
rs752030532 CA5783447	469	G>D		No	ClinGen ExAC TOPMed gnomAD
rs752030532	469	G>D		No	ExAC TOPMed gnomAD
rs1440864299	469	G>S		No	TOPMed gnomAD
CA378975921 rs1440864299	469	G>S		No	ClinGen TOPMed gnomAD
CA378975814 rs763008327	474	D>E		No	ClinGen ExAC gnomAD
rs763008327	474	D>E		No	ExAC gnomAD
rs764652068 CA5783444	474	D>H		No	ClinGen ExAC gnomAD
rs764652068	474	D>H		No	ExAC gnomAD
rs1564878592	475	S>N		No	Ensembl
rs1564878592 CA378975794	475	S>N		No	ClinGen Ensembl
rs533205946 CA5783442	476	S>T		No	ClinGen 1000Genomes ExAC gnomAD
rs533205946	476	S>T		No	1000Genomes ExAC gnomAD
rs769843859 CA5783441	477	S>C		No	ClinGen ExAC gnomAD
rs769843859	477	S>C		No	ExAC gnomAD
CA216908505 rs903851060	477	S>N		No	ClinGen Ensembl
rs903851060	477	S>N		No	Ensembl
rs1221395132	479	S>N		No	TOPMed
rs1221395132 CA378975704	479	S>N		No	ClinGen TOPMed
CA378975660 rs1245545649	481	C>R		No	ClinGen TOPMed
rs1245545649	481	C>R		No	TOPMed
rs1486552636 CA378975594	484	S>N		No	ClinGen TOPMed
rs1486552636	484	S>N		No	TOPMed
COSM929473 CA5783439 rs772836644	485	A>T	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs772836644	485	A>T		No	ExAC TOPMed gnomAD
rs771881309	486	N>T		No	ExAC gnomAD
CA5783438 rs771881309	486	N>T		No	ClinGen ExAC gnomAD
CA5783437 rs747938001	487	S>N		No	ClinGen ExAC gnomAD
rs747938001	487	S>N		No	ExAC gnomAD
rs1273451178	488	L>I		No	gnomAD
CA378975515 rs1273451178	488	L>I		No	ClinGen gnomAD
rs1366643668 CA378975491	489	Y>C		No	ClinGen gnomAD
rs1366643668	489	Y>C		No	gnomAD
rs1234002266	489	Y>H		No	gnomAD
rs1234002266 CA378975501	489	Y>H		No	ClinGen gnomAD
rs1802427 CA5783434	491	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1802427	491	D>N		No	1000Genomes ExAC TOPMed gnomAD
rs1564878413 CA378975432	492	I>L		No	ClinGen Ensembl
rs1564878413	492	I>L		No	Ensembl
CA378975417 rs750066562	493	E>K		No	ClinGen ExAC gnomAD
rs750066562	493	E>K		No	ExAC gnomAD
rs750066562	493	E>Q		No	ExAC gnomAD
CA5783430 rs750066562	493	E>Q		No	ClinGen ExAC gnomAD
CA5783429 rs780747698	493	E>V		No	ClinGen ExAC TOPMed gnomAD
rs780747698	493	E>V		No	ExAC TOPMed gnomAD
CA378975335 rs1421557955	496	L>F		No	ClinGen TOPMed
rs1421557955	496	L>F		No	TOPMed
CA378975296 rs1171591797	497	M>I		No	ClinGen gnomAD
rs1171591797	497	M>I		No	gnomAD
rs1298847378	497	M>K		No	TOPMed
CA378975312 rs1298847378	497	M>K		No	ClinGen TOPMed
rs1298847378 CA378975308	497	M>T		No	ClinGen TOPMed
rs1298847378	497	M>T		No	TOPMed
rs1339972899	499	L>R		No	TOPMed
rs1339972899 CA378975253	499	L>R		No	ClinGen TOPMed
rs975925871	500	E>G		No	TOPMed
CA216908482 rs975925871	500	E>G		No	ClinGen TOPMed
rs763456762 CA5783425	502	P>S		No	ClinGen ExAC gnomAD
rs763456762	502	P>S		No	ExAC gnomAD
rs140470055	503	A>T		No	1000Genomes ESP ExAC TOPMed gnomAD
CA5783424 rs140470055	503	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1444359880 CA378975185	503	A>V		No	ClinGen gnomAD
rs1444359880	503	A>V		No	gnomAD
rs765384019	504	A>W		No	ExAC gnomAD
CA5783423 rs765384019	504	A>W		No	ClinGen ExAC gnomAD
VAR_084074	37	R>H	no effect on IFNB induction upon Sendai virus infection [UniProt]	No	UniProt
VAR_084075	95	F>S	abolished IFNB induction upon Sendai virus infection [UniProt]	No	UniProt
VAR_084076	117	D>N	abolished IFNB induction upon Sendai virus infection [UniProt]	No	UniProt
VAR_084077	133	G>R	no effect on IFNB induction upon Sendai virus infection [UniProt]	No	UniProt
VAR_084078	185	Q>-	abolishes IFNB induction upon Sendai virus infection [UniProt]	No	UniProt
VAR_084079	214	G>L	requires 2 nucleotide substitutions; no effect on IFNB induction upon Sendai virus infection [UniProt]	No	UniProt
VAR_084080	254	T>A	no effect IFNB induction upon Sendai virus infection [UniProt]	No	UniProt
VAR_084081	369	R>Q	no effect on IFNB induction upon Sendai virus infection [UniProt]	No	UniProt
VAR_084082	371	M>V	decreased IFNB induction upon Sendai virus infection [UniProt]	No	UniProt
VAR_084083	419	A>T	no effect on IFNB induction upon Sendai virus infection [UniProt]	No	UniProt
VAR_084084	421	Q>-	abolished IFNB induction upon Sendai virus infection [UniProt]	No	UniProt

1 associated diseases with Q92985

[MIM: 616345]: Immunodeficiency 39 (IMD39)

A primary immunodeficiency causing severe, life-threatening acute respiratory distress upon infection with H1N1 influenza A. {ECO:0000269|PubMed:25814066}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

A primary immunodeficiency causing severe, life-threatening acute respiratory distress upon infection with H1N1 influenza A. {ECO:0000269|PubMed:25814066}. Note=The disease is caused by variants affecting the gene represented in this entry.

3 regional properties for Q92985

Type	Name	Position	InterPro Accession
domain	Interferon regulatory factor, DNA-binding domain	7 - 127	IPR001346
domain	Interferon regulatory factor-3	286 - 466	IPR019471
conserved_site	Interferon regulatory factor, conserved site	32 - 64	IPR019817

Functions

		Description
EC Number
Subcellular Localization	Nucleus Cytoplasm	The phosphorylated and active form accumulates selectively in the nucleus
PANTHER Family	PTHR11949	INTERFERON REGULATORY FACTOR
PANTHER Subfamily	PTHR11949:SF2	INTERFERON REGULATORY FACTOR 7
PANTHER Protein Class	DNA-binding transcription factor helix-turn-helix transcription factor winged helix/forkhead transcription factor
PANTHER Pathway Category	Toll receptor signaling pathway IRF3

6 GO annotations of cellular component

Name	Definition
chromatin	The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome.
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
endosome membrane	The lipid bilayer surrounding an endosome.
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.
nucleus	A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.

4 GO annotations of molecular function

Name	Definition
DNA binding	Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid).
DNA-binding transcription factor activity, RNA polymerase II-specific	A DNA-binding transcription factor activity that modulates the transcription of specific gene sets transcribed by RNA polymerase II.
RNA polymerase II cis-regulatory region sequence-specific DNA binding	Binding to a specific upstream regulatory DNA sequence (transcription factor recognition sequence or binding site) located in cis relative to the transcription start site (i.e., on the same strand of DNA) of a gene transcribed by RNA polymerase II.
sequence-specific double-stranded DNA binding	Binding to double-stranded DNA of a specific nucleotide composition, e.g. GC-rich DNA binding, or with a specific sequence motif or type of DNA, e.g. promotor binding or rDNA binding.

23 GO annotations of biological process

Name	Definition
cellular response to DNA damage stimulus	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating damage to its DNA from environmental insults or errors during metabolism.
defense response to virus	Reactions triggered in response to the presence of a virus that act to protect the cell or organism.
establishment of viral latency	A process by which a virus establishes a latent state within its host, either as an integrated provirus within the host genome or as an episome, where viral genome remains in the cytoplasm or nucleus as distinct objects.
immune system process	Any process involved in the development or functioning of the immune system, an organismal system for calibrated responses to potential internal or invasive threats.
immunoglobulin mediated immune response	An immune response mediated by immunoglobulins, whether cell-bound or in solution.
innate immune response	Innate immune responses are defense responses mediated by germline encoded components that directly recognize components of potential pathogens.
MDA-5 signaling pathway	The series of molecular signals initiated by viral RNA binding of a cytoplasmic pattern recognition receptor (PRR) MDA-5 (also known as IFIH1). MDA-5 is a cytoplasmic receptor that detects RNA synthesized during viral replication and triggers a signaling pathway to protect the host against viral infection, for example by inducing the expression of antiviral cytokines.
negative regulation of macrophage apoptotic process	Any process that stops, prevents, or reduces the frequency, rate or extent of macrophage apoptotic process.
negative regulation of transcription by RNA polymerase II	Any process that stops, prevents, or reduces the frequency, rate or extent of transcription mediated by RNA polymerase II.
positive regulation of interferon-alpha production	Any process that activates or increases the frequency, rate, or extent of interferon-alpha production.
positive regulation of interferon-beta production	Any process that activates or increases the frequency, rate, or extent of interferon-beta production.
positive regulation of transcription by RNA polymerase II	Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter.
positive regulation of transcription, DNA-templated	Any process that activates or increases the frequency, rate or extent of cellular DNA-templated transcription.
positive regulation of type I interferon-mediated signaling pathway	Any process that increases the rate, frequency or extent of a type I interferon-mediated signaling pathway.
regulation of adaptive immune response	Any process that modulates the frequency, rate, or extent of an adaptive immune response.
regulation of immune response	Any process that modulates the frequency, rate or extent of the immune response, the immunological reaction of an organism to an immunogenic stimulus.
regulation of monocyte differentiation	Any process that modulates the frequency, rate or extent of monocyte differentiation.
regulation of MyD88-dependent toll-like receptor signaling pathway	Any process that modulates the frequency, rate, or extent of MyD88-dependent toll-like receptor signaling pathway.
regulation of MyD88-independent toll-like receptor signaling pathway	Any process that modulates the frequency, rate, or extent of MyD88-independent toll-like receptor signaling pathway.
regulation of transcription by RNA polymerase II	Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II.
regulation of type I interferon production	Any process that modulates the frequency, rate, or extent of interferon type I production. Type I interferons include the interferon-alpha, beta, delta, episilon, zeta, kappa, tau, and omega gene families.
response to virus	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus from a virus.
type I interferon signaling pathway	The series of molecular signals initiated by type I interferon binding to its receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription. Type I interferons include the interferon-alpha, beta, delta, episilon, zeta, kappa, tau, and omega gene families.

7 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q90643	IRF3	Interferon regulatory factor 3	Gallus gallus (Chicken)	SS
Q00978	IRF9	Interferon regulatory factor 9	Homo sapiens (Human)	PR
Q13568	IRF5	Interferon regulatory factor 5	Homo sapiens (Human)	EV
Q15306	IRF4	Interferon regulatory factor 4	Homo sapiens (Human)	SS
Q14653	IRF3	Interferon regulatory factor 3	Homo sapiens (Human)	EV
Q02556	IRF8	Interferon regulatory factor 8	Homo sapiens (Human)	PR
P70434	Irf7	Interferon regulatory factor 7	Mus musculus (Mouse)	SS

10	20	30	40	50	60
MALAPERAAP	RVLFGEWLLG	EISSGCYEGL	QWLDEARTCF	RVPWKHFARK	DLSEADARIF
70	80	90	100	110	120
KAWAVARGRW	PPSSRGGGPP	PEAETAERAG	WKTNFRCALR	STRRFVMLRD	NSGDPADPHK
130	140	150	160	170	180
VYALSRELCW	REGPGTDQTE	AEAPAAVPPP	QGGPPGPFLA	HTHAGLQAPG	PLPAPAGDKG
190	200	210	220	230	240
DLLLQAVQQS	CLADHLLTAS	WGADPVPTKA	PGEGQEGLPL	TGACAGGPGL	PAGELYGWAV
250	260	270	280	290	300
ETTPSPGPQP	AALTTGEAAA	PESPHQAEPY	LSPSPSACTA	VQEPSPGALD	VTIMYKGRTV
310	320	330	340	350	360
LQKVVGHPSC	TFLYGPPDPA	VRATDPQQVA	FPSPAELPDQ	KQLRYTEELL	RHVAPGLHLE
370	380	390	400	410	420
LRGPQLWARR	MGKCKVYWEV	GGPPGSASPS	TPACLLPRNC	DTPIFDFRVF	FQELVEFRAR
430	440	450	460	470	480
QRRGSPRYTI	YLGFGQDLSA	GRPKEKSLVL	VKLEPWLCRV	HLEGTQREGV	SSLDSSSLSL
490	500
CLSSANSLYD	DIECFLMELE	QPA