AiPD: Autoinhibited Protein Database

Q27J81

Gene name	INF2 (C14orf151, C14orf173)
Protein name	Inverted formin-2
Names	Insulin-like growth factor I receptor, IGF-I receptor, HBEBP2-binding protein C
Species	Homo sapiens (Human)
KEGG Pathway	hsa:64423
EC number
Protein Class	INVERTED FORMIN-2 (PTHR46345)

Descriptions

INF2 is an unusual formin protein that accelerates both actin polymerization and depolymerization. INF2 possesses a dimeric formin homology 2 (FH2) domain that binds filament barbed ends and is critical for polymerization and depolymerization activities. INF2 binds actin monomers through its diaphanous autoregulatory domain (DAD). DAD also participates in an autoinhibitory interaction with the N-terminal diaphanous inhibitory domain (DID). Actin monomer binding to the DAD of INF2 competes with the DID/DAD interaction, thereby activating actin polymerization, and mutation of a key DID residue also results in constitutive INF2 activity.

Autoinhibitory domains (AIDs)

Target domain	759-1199 (FH2 domain)
Relief mechanism	Partner binding
Assay	Mutagenesis experiment

AID

1-420 (DID domain)

Target domain

759-1199 (FH2 domain)

Relief mechanism

Partner binding (Binding of actin monomer)

Assay

Mutagenesis experiment

Target domain	759-1199 (FH2 domain)
Relief mechanism	Partner binding
Assay	Mutagenesis experiment

AID

1000-1022 (DAD domain)

Target domain

759-1199 (FH2 domain)

Relief mechanism

Partner binding (Binding of activated GTPase)

Assay

Mutagenesis experiment

Accessory elements

No accessory elements

References

Ramabhadran V et al. (2013) "Actin monomers activate inverted formin 2 by competing with its autoinhibitory interaction", The Journal of biological chemistry, 288, 26847-55

Autoinhibited structure

Activated structure

1 structures for Q27J81

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q27J81-F1	Predicted				AlphaFoldDB

1075 variants for Q27J81

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
VAR_063075 rs201383094 CA7372220	13	A>T	FSGS5 [UniProt]	Yes	ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD
VAR_063076 rs267606880 CA114726 RCV000001109	42	L>P	Focal segmental glomerulosclerosis 5 (fsgs5) Focal segmental glomerulosclerosis 5 FSGS5 [Ensembl, ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
CA391225120 rs1555373267 RCV000649971	50	Y>*	Focal segmental glomerulosclerosis 5 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000534855 CA391225100 rs1555373261	50	Y>D	Focal segmental glomerulosclerosis 5 (fsgs5) Focal segmental glomerulosclerosis 5 [Ensembl, ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs866348422 RCV001261441	54	R>P	Focal segmental glomerulosclerosis 5 [ClinVar]	Yes	ClinVar dbSNP
CA391225221 rs1595163730 RCV001027720	56	R>H	Focal segmental glomerulosclerosis 5 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000789990 VAR_073984 rs1595163736 CA391225238	57	L>R	CMTDIE; unknown pathological significance Charcot-Marie-Tooth disease Focal segmental glomerulosclerosis 5 (fsgs5) [UniProt, ClinVar, Ensembl]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
VAR_073985 rs1595163801 CA391225433 RCV000789991	68	F>S	CMTDIE; unknown pathological significance Charcot-Marie-Tooth disease [UniProt, ClinVar]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV000790329 rs1595163808	69	L>missing	Charcot-Marie-Tooth disease [ClinVar]	Yes	ClinVar dbSNP
RCV000789992 CA391225451 rs1595163820	69	L>P	Charcot-Marie-Tooth disease [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000735730 VAR_079801 CA391225522 rs1566777560 RCV001539491	73	G>S	FSGS5; unknown pathological significance Focal segmental glomerulosclerosis 5 [UniProt, ClinVar]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV000542048 rs918089359 CA267330465	73	G>V	Focal segmental glomerulosclerosis 5 (fsgs5) Focal segmental glomerulosclerosis 5 [Ensembl, ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA391225536 rs1566777566 RCV000693758	74	L>R	Focal segmental glomerulosclerosis 5 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1595163851 VAR_073987 RCV000789987 RCV001549803 CA391225568	77	L>R	Charcot-Marie-Tooth disease CMTDIE; de novo mutation; unknown pathological significance Focal segmental glomerulosclerosis 5 (fsgs5) [ClinVar, UniProt, Ensembl]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
rs1889499325 RCV001254082	78	L>missing	Charcot-Marie-Tooth disease dominant intermediate E [ClinVar]	Yes	ClinVar dbSNP
RCV001029795 rs1317776692 CA391225647	85	S>W	Focal segmental glomerulosclerosis 5 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs765566674 RCV000649976 CA7372254	89	V>I	Focal segmental glomerulosclerosis 5 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV000023850 VAR_067589 rs387907035 CA129510	104	C>F	Charcot-Marie-Tooth disease dominant intermediate E Charcot-marie-tooth disease, dominant intermediate e (cmtdie) CMTDIE [ClinVar, Ensembl, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
rs387907034 CA129509 RCV000023849 VAR_067590	104	C>R	Charcot-Marie-Tooth disease dominant intermediate E Charcot-marie-tooth disease, dominant intermediate e (cmtdie) CMTDIE [ClinVar, Ensembl, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
CA129511 rs387907036 RCV000023851 VAR_067591	104	C>W	Charcot-Marie-Tooth disease dominant intermediate E Focal segmental glomerulosclerosis 5 (fsgs5) Charcot-marie-tooth disease, dominant intermediate e (cmtdie) CMTDIE [ClinVar, Ensembl, UniProt]	Yes	ClinGen ClinVar UniProt TOPMed dbSNP gnomAD
rs387907035 RCV000755018 CA391225853	104	C>Y	Charcot-Marie-Tooth disease dominant intermediate E Charcot-marie-tooth disease, dominant intermediate e (cmtdie) [ClinVar, Ensembl]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1555373363 RCV000546447 CA391225858	105	V>E	Charcot-Marie-Tooth disease dominant intermediate E [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1555373363 VAR_073988 RCV000789985 CA391225860	105	V>G	Charcot-Marie-Tooth disease CMTDIE [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV000789983 CA391225865 rs1595164070	106	R>P	Charcot-Marie-Tooth disease [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1595164081 CA391225876 RCV000789993	108	V>D	Charcot-Marie-Tooth disease [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000023852 RCV000235466 VAR_067592 CA129512 rs387907037	128	L>P	Charcot-Marie-Tooth disease dominant intermediate E Focal segmental glomerulosclerosis 5 (fsgs5) Charcot-marie-tooth disease, dominant intermediate e (cmtdie) CMTDIE [ClinVar, Ensembl, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
CA391212614 VAR_073990 rs387907038	132	L>P	Focal segmental glomerulosclerosis 5 (fsgs5) Charcot-marie-tooth disease, dominant intermediate e (cmtdie) CMTDIE [Ensembl, UniProt]	Yes	ClinGen UniProt Ensembl dbSNP
RCV000023853 CA129513 rs387907038 VAR_067593	132	L>R	Charcot-Marie-Tooth disease dominant intermediate E Focal segmental glomerulosclerosis 5 (fsgs5) Charcot-marie-tooth disease, dominant intermediate e (cmtdie) CMTDIE [ClinVar, Ensembl, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV000525236 CA7372293 rs774135330	133	D>N	Focal segmental glomerulosclerosis 5 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs760611306 CA7372297 RCV000649972	137	V>G	Focal segmental glomerulosclerosis 5 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA7372296 RCV000690750 RCV000735727 rs200713451	137	V>M	Focal segmental glomerulosclerosis 5 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000533152 rs1555373588 CA391212823	147	L>P	Focal segmental glomerulosclerosis 5 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA391212905 rs754706068 RCV000778402	153	Y>*	Focal segmental glomerulosclerosis 5 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs1555373599 RCV000543208	164	A>missing	Focal segmental glomerulosclerosis 5 [ClinVar]	Yes	ClinVar dbSNP
RCV000789984 CA391213047 rs1595165937	165	L>P	Charcot-Marie-Tooth disease [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000995568 rs1595166085 VAR_079806 CA391213198	177	R>C	Focal segmental glomerulosclerosis 5 FSGS5 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
rs1566778651 CA391213199 RCV000735668 VAR_072230 RCV000681879	177	R>H	Focal segmental glomerulosclerosis 5 FSGS5 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
VAR_063077 rs1566778676 CA391213247 RCV000735726 RCV000790332 RCV001535996	184	E>K	Charcot-Marie-Tooth disease Focal segmental glomerulosclerosis 5 CMTDIE and FSGS5 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV000531677 rs1555373625 CA391213259	185	L>P	Focal segmental glomerulosclerosis 5 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA114722 RCV000001105 VAR_063078 rs267606877	186	S>P	Focal segmental glomerulosclerosis 5 (fsgs5) Focal segmental glomerulosclerosis 5 FSGS5 [Ensembl, ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
CA7372337 rs377272716 RCV000698374	200	V>M	Focal segmental glomerulosclerosis 5 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs1595166203 VAR_072235 CA391213371 RCV000992179	203	A>D	FSGS5 [UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
CA267318895 rs1049200069 RCV000687874	204	V>I	Focal segmental glomerulosclerosis 5 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
COSM416278 CA267318974 VAR_072236 rs912928648 COSM416277 COSM1133433	214	R>C	urinary_tract Focal segmental glomerulosclerosis 5 (fsgs5) FSGS5 [Cosmic, Ensembl, UniProt]	Yes	ClinGen cosmic curated UniProt TOPMed dbSNP gnomAD
CA114725 VAR_063080 rs267606879 RCV000001108	214	R>H	Focal segmental glomerulosclerosis 5 (fsgs5) Focal segmental glomerulosclerosis 5 FSGS5 [Ensembl, ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt TOPMed dbSNP
rs267607183 RCV000001106 CA114723 VAR_063081 RCV000681691	218	R>Q	Focal segmental glomerulosclerosis 5 (fsgs5) Focal segmental glomerulosclerosis 5 FSGS5 [Ensembl, ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
CA114724 VAR_063082 RCV000001107 rs267606878	218	R>W	Focal segmental glomerulosclerosis 5 (fsgs5) Focal segmental glomerulosclerosis 5 FSGS5 [Ensembl, ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV000711995 rs530391015 VAR_063083 CA391213465 RCV000790334 RCV000626959 RCV000735784 RCV001860480	220	E>K	Charcot-Marie-Tooth disease Focal segmental glomerulosclerosis 5 FSGS5 Hypertensive disorder [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt dbSNP gnomAD
rs765986755 RCV000546565 CA7372412	245	L>V	Focal segmental glomerulosclerosis 5 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA7372426 rs772599038 RCV000688375	267	D>N	Focal segmental glomerulosclerosis 5 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs374935145 CA7372451 RCV000692572	284	C>R	Focal segmental glomerulosclerosis 5 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000700172 CA7372464 rs542700662	306	R>C	Focal segmental glomerulosclerosis 5 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA7372472 RCV000649978 rs761806103	323	V>M	Focal segmental glomerulosclerosis 5 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
CA391215860 RCV001109726 rs1481694989	368	Q>R	Focal segmental glomerulosclerosis 5 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
CA10639830 RCV000393663 rs376942822	376	T>S	Focal segmental glomerulosclerosis 5 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000311178 CA7372517 rs201077878	382	S>G	Focal segmental glomerulosclerosis 5 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001092393 RCV001862709 CA391216630 rs775331561	446	L>Q	Focal segmental glomerulosclerosis 5 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs572969666 RCV001462572 CA7372565 RCV000877042	450	G>R	Focal segmental glomerulosclerosis 5 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA10584484 rs545495465 RCV000352897 RCV000235991	454	L>F	Focal segmental glomerulosclerosis 5 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes TOPMed dbSNP gnomAD
RCV000735707 rs376451593 CA7372612 VAR_072237	547	G>D	Focal segmental glomerulosclerosis 5 [ClinVar]	Yes	ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD
CA7372666 rs369421697 RCV000649968	591	D>H	Focal segmental glomerulosclerosis 5 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000535629 RCV000516962 CA7372667 rs369421697	591	D>N	Focal segmental glomerulosclerosis 5 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001859874 RCV000289140 rs775320095 CA7372672	593	E>K	Focal segmental glomerulosclerosis 5 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA7372681 RCV000692978 rs752971046	604	R>Q	Focal segmental glomerulosclerosis 5 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000389255 CA7372693 rs200155666	622	R>Q	Focal segmental glomerulosclerosis 5 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs368576387 RCV000649964 CA7372766	653	E>K	Focal segmental glomerulosclerosis 5 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs1378876029 CA391219465 RCV000649965	654	E>D	Focal segmental glomerulosclerosis 5 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
CA7372768 RCV000703550 rs189559257	656	A>T	Focal segmental glomerulosclerosis 5 (fsgs5) Focal segmental glomerulosclerosis 5 [Ensembl, ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs138577569 RCV000295021 RCV000600623 COSM1210666 CA7372770 COSM1210667	660	R>W	large_intestine Focal segmental glomerulosclerosis 5 [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs886050381 RCV000350036 CA10634650	670	E>G	Focal segmental glomerulosclerosis 5 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs886050382 CA10639841 RCV000399927	674	Q>H	Focal segmental glomerulosclerosis 5 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs769120676 RCV000692300 CA391219944	696	A>G	Focal segmental glomerulosclerosis 5 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
CA7372850 rs775500020 RCV000649983	719	E>K	Focal segmental glomerulosclerosis 5 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs373199310 RCV000649982 CA267325788	730	V>M	Focal segmental glomerulosclerosis 5 [ClinVar]	Yes	ClinGen ClinVar ESP TOPMed dbSNP gnomAD
rs754128624 RCV000337305 CA7372856	734	V>G	Focal segmental glomerulosclerosis 5 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000649979 CA7372861 rs569586169	746	E>K	Focal segmental glomerulosclerosis 5 (fsgs5) Focal segmental glomerulosclerosis 5 [Ensembl, ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA267328013 rs941477086 RCV001109797	797	R>C	Focal segmental glomerulosclerosis 5 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
RCV001262481 rs1453244138	802	H>Q	Charcot-Marie-Tooth disease dominant intermediate E [ClinVar]	Yes	ClinVar dbSNP
RCV001110590 CA7372934 rs200948588	808	A>V	Focal segmental glomerulosclerosis 5 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000649958 rs373532334 CA7372939	814	D>N	Focal segmental glomerulosclerosis 5 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs4983379 CA7372944 RCV000650003	827	Q>K	Focal segmental glomerulosclerosis 5 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000703255 CA7372946 rs377340315	830	G>V	Focal segmental glomerulosclerosis 5 (fsgs5) Focal segmental glomerulosclerosis 5 [Ensembl, ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001675982 CA7372966 RCV001261425 rs767351070 RCV001110591	836	I>T	Focal segmental glomerulosclerosis 5 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
CA7372967 RCV000649980 rs201534539	837	R>C	Focal segmental glomerulosclerosis 5 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001328083 rs1890103037	863	E>*	Nephrotic syndrome [ClinVar]	Yes	ClinVar dbSNP
rs1314746427 CA391222180 RCV000543948	881	E>K	Focal segmental glomerulosclerosis 5 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
CA7373034 rs748529803 RCV000560810	887	E>K	Focal segmental glomerulosclerosis 5 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
COSM3419659 rs777498088 RCV000530184 CA7373036 COSM3419657	891	R>Q	large_intestine Focal segmental glomerulosclerosis 5 [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD
rs776314008 RCV000695957 RCV000607130 CA7373039	895	D>N	Focal segmental glomerulosclerosis 5 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001112574 CA7373042 rs775349897	901	A>T	Focal segmental glomerulosclerosis 5 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA7373043 RCV001112575 rs762803590	903	Q>H	Focal segmental glomerulosclerosis 5 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP
rs377145979 CA7373055 RCV000649967	919	L>V	Focal segmental glomerulosclerosis 5 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA7373060 RCV001860500 rs749197190 RCV001000886	922	R>H	Focal segmental glomerulosclerosis 5 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000697186 rs1566785235	923	A>missing	Focal segmental glomerulosclerosis 5 [ClinVar]	Yes	ClinVar dbSNP
RCV000699492 CA267330011 rs1001885245	934	A>V	Focal segmental glomerulosclerosis 5 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV000706310 rs781494318 CA7373092	935	A>V	Focal segmental glomerulosclerosis 5 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000649977 rs1385146569 CA391222788	953	R>Q	Focal segmental glomerulosclerosis 5 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV001029864 CA267330233 rs977752085	970	V>M	Focal segmental glomerulosclerosis 5 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV000537760 rs935688609 CA391223045	993	R>G	Focal segmental glomerulosclerosis 5 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV000649966 rs748234626 CA7373143	995	D>G	Focal segmental glomerulosclerosis 5 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000269885 CA7373144 rs377414980 RCV000691072	996	T>I	Focal segmental glomerulosclerosis 5 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000649999 RCV000507434 CA7373150 rs551015347	1011	T>R	Focal segmental glomerulosclerosis 5 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000649959 rs368372551 CA7373169	1020	A>V	Focal segmental glomerulosclerosis 5 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000700350 CA7373177 rs369987125	1028	R>C	Focal segmental glomerulosclerosis 5 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000695009 rs1368908308 CA391223457	1028	R>H	Focal segmental glomerulosclerosis 5 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV000525037 CA7373180 rs368995122 RCV000757410	1035	G>S	Focal segmental glomerulosclerosis 5 (fsgs5) Focal segmental glomerulosclerosis 5 [Ensembl, ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs200369827 CA7373187 RCV000375801	1045	R>Q	Focal segmental glomerulosclerosis 5 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA7373186 rs780428043 RCV000549964	1045	R>W	Focal segmental glomerulosclerosis 5 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA7373193 RCV000819052 rs760721935	1053	V>M	Focal segmental glomerulosclerosis 5 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA7373197 rs202244190 RCV000701216	1065	E>A	Focal segmental glomerulosclerosis 5 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA7373199 RCV000649974 rs376139171 RCV000399269	1069	P>L	Focal segmental glomerulosclerosis 5 (fsgs5) Focal segmental glomerulosclerosis 5 [Ensembl, ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs370169829 RCV000526867 CA7373207	1075	R>H	Focal segmental glomerulosclerosis 5 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000626958 CA391223883 rs1555375554	1083	S>G	Oligohydramnios [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs371946522 CA7373217 RCV000691532	1087	T>I	Focal segmental glomerulosclerosis 5 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
VAR_037117 rs34251364 CA7373222 RCV000244885 RCV000576792	1096	P>S	Focal segmental glomerulosclerosis 5 [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs200246759 RCV001857976 CA7373231 RCV000523280	1119	N>T	Focal segmental glomerulosclerosis 5 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD
rs1248997686 RCV001110679 CA391224194	1121	P>A	Focal segmental glomerulosclerosis 5 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV000366249 RCV000251255 CA7373238 VAR_037118 RCV000554124 rs3803311	1135	T>M	Focal segmental glomerulosclerosis 5 [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs759925463 CA7373241 RCV000547152	1138	L>V	Focal segmental glomerulosclerosis 5 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
CA7373244 RCV001280845 rs199640596	1140	V>I	Focal segmental glomerulosclerosis 5 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV001110680 rs1890205619	1149	S>T	Focal segmental glomerulosclerosis 5 [ClinVar]	Yes	ClinVar dbSNP
RCV000441424 CA7373273 RCV000552658 rs200591522	1159	R>H	Focal segmental glomerulosclerosis 5 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000649970 CA7373296 rs778879482 RCV000490158	1179	T>A	Focal segmental glomerulosclerosis 5 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000545679 RCV000308410 CA7373302 rs374684004	1184	A>T	Focal segmental glomerulosclerosis 5 (fsgs5) Focal segmental glomerulosclerosis 5 [Ensembl, ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs201715539 RCV000370054 RCV000508357 RCV000649975 CA7373307	1188	S>F	Focal segmental glomerulosclerosis 5 (fsgs5) Focal segmental glomerulosclerosis 5 [Ensembl, ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000649960 rs1555375657 CA391225306	1193	F>L	Focal segmental glomerulosclerosis 5 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs764338863 RCV000534118 CA7373315	1200	D>H	Focal segmental glomerulosclerosis 5 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA267330977 rs989477091 RCV000649969	1209	R>G	Focal segmental glomerulosclerosis 5 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV000537450 RCV000608839 CA7373329 rs199801767	1213	R>Q	Focal segmental glomerulosclerosis 5 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs200823300 RCV000649961 CA7373328	1213	R>W	Focal segmental glomerulosclerosis 5 (fsgs5) Focal segmental glomerulosclerosis 5 [Ensembl, ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV001067079 rs762985148	1215	S>missing	Focal segmental glomerulosclerosis 5 [ClinVar]	Yes	ClinVar dbSNP
RCV000649962 rs139196357 CA7373331	1216	K>N	Focal segmental glomerulosclerosis 5 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000701718 rs754128326 CA267330994	1221	R>P	Focal segmental glomerulosclerosis 5 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000704974 rs763988639	1235	P>missing	Focal segmental glomerulosclerosis 5 [ClinVar]	Yes	ClinVar dbSNP
rs201091360 RCV000535958 CA7373370	1235	P>S	Focal segmental glomerulosclerosis 5 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes TOPMed dbSNP
rs775075672 RCV000685727 CA7373372	1238	D>E	Focal segmental glomerulosclerosis 5 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs1566787039 RCV001196531	1243	K>missing	Charcot-Marie-Tooth disease dominant intermediate E [ClinVar]	Yes	ClinVar dbSNP
RCV000550841 rs753327806	1247	V>missing	Focal segmental glomerulosclerosis 5 [ClinVar]	Yes	ClinVar dbSNP
rs780454513 CA7372217	6	G>R		No	ClinGen ExAC gnomAD
CA391224340 rs780454513	6	G>S		No	ClinGen ExAC gnomAD
CA391224357 rs563745513	7	A>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs867143319 CA267330310	7	A>T		No	ClinGen gnomAD
rs563745513 CA7372218	7	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA267330324 rs751299918	8	Q>H		No	ClinGen Ensembl
rs529349803 CA391224389	9	R>H		No	ClinGen 1000Genomes ExAC gnomAD
CA7372219 rs529349803	9	R>L		No	ClinGen 1000Genomes ExAC gnomAD
CA391224410 rs1373095437	10	K>R		No	ClinGen gnomAD
rs201814557 CA267330327	12	A>T		No	ClinGen Ensembl
CA391224468 rs1453155938	13	A>V		No	ClinGen TOPMed
CA7372222 rs758225140	15	K>R		No	ClinGen ExAC
CA391224524 rs1475326589	16	E>A		No	ClinGen TOPMed
CA391224527 rs1203173746	16	E>D		No	ClinGen gnomAD
CA7372225 rs770833242	23	S>L		No	ClinGen ExAC gnomAD
RCV000236254 CA7372224 rs746964937	23	S>T		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA391224699 rs1363802069	24	D>G		No	ClinGen gnomAD
CA391224690 rs1182734752	24	D>N		No	ClinGen gnomAD
CA391224745 rs1479164061	26	T>M		No	ClinGen gnomAD
RCV000681837 CA391224819 rs1566777417	30	L>R		No	ClinGen ClinVar Ensembl dbSNP
CA7372228 rs769024109	31	E>Q		No	ClinGen ExAC gnomAD
CA7372230 rs761923484	32	S>I		No	ClinGen ExAC
CA391224850 rs1354243591	32	S>R		No	ClinGen gnomAD
CA7372231 rs767545050	33	A>T		No	ClinGen ExAC gnomAD
rs1345642905 CA391224870	34	D>A		No	ClinGen TOPMed
rs1212963906 CA391224938	39	I>V		No	ClinGen gnomAD
CA391224956 rs1437016055	40	R>Q		No	ClinGen gnomAD
rs761238349 CA391224953	40	R>W		No	ClinGen ExAC TOPMed gnomAD
CA346369 RCV000157249 rs730880113	50	Y>S		No	ClinGen ClinVar Ensembl dbSNP
rs866348422 CA267330412	54	R>H		No	ClinGen gnomAD
rs1595163736 CA391225236	57	L>P	Focal segmental glomerulosclerosis 5 (fsgs5) [Ensembl]	No	ClinGen Ensembl
CA391225297 rs1410857502	61	D>N		No	ClinGen gnomAD
CA391225332 rs1364131044	63	G>C		No	ClinGen gnomAD
rs990960028 CA267330439	63	G>D		No	ClinGen gnomAD
COSM1368502 CA391225335 COSM1368500 COSM1368501 rs1364131044	63	G>S	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1304291878 CA391225361	64	W>C		No	ClinGen gnomAD
CA391225393 rs1332843219	66	V>L		No	ClinGen gnomAD
rs1332843219 CA391225391	66	V>M		No	ClinGen gnomAD
CA391225423 rs1446561003	67	Q>H		No	ClinGen gnomAD
rs764972050 CA7372237	67	Q>P		No	ClinGen ExAC gnomAD
rs1217110695 CA391225440	68	F>L		No	ClinGen gnomAD
rs1276466152 CA391225465	70	E>G		No	ClinGen gnomAD
rs1357037031 CA391225487	71	Q>R		No	ClinGen gnomAD
CA391225548 rs1177510554	75	D>V		No	ClinGen TOPMed
rs1595163851 CA391225567	77	L>P	Focal segmental glomerulosclerosis 5 (fsgs5) [Ensembl]	No	ClinGen Ensembl
rs745691239 CA7372244	80	A>V		No	ClinGen ExAC TOPMed gnomAD
CA7372245 rs769520074	82	A>S		No	ClinGen ExAC gnomAD
COSM1368506 rs1482020773 COSM1368507 CA391225626 COSM1368508	83	R>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed
RCV000681841 rs1317776692 CA391225649 COSM696959 COSM1147264 COSM696960	85	S>L	lung [Cosmic]	No	ClinGen cosmic curated ClinVar dbSNP gnomAD
rs1437488537 CA391225651	86	G>S		No	ClinGen gnomAD
CA391225659 rs1566777637 RCV000756276	86	G>V		No	ClinGen ClinVar Ensembl dbSNP
CA391225667 rs1313206415	87	R>H		No	ClinGen gnomAD
CA391225675 rs766891612	88	G>R		No	ClinGen ExAC gnomAD
CA7372251 rs766891612	88	G>S		No	ClinGen ExAC gnomAD
rs752377468 CA391225695	90	A>S		No	ClinGen ExAC gnomAD
CA7372255 rs752377468	90	A>T		No	ClinGen ExAC gnomAD
CA267330500 rs200247054	91	R>C	Focal segmental glomerulosclerosis 5 (fsgs5) [Ensembl]	No	ClinGen 1000Genomes
CA7372257 rs201652529	92	I>M		No	ClinGen ExAC TOPMed gnomAD
rs1210129799 CA391225728	93	S>A		No	ClinGen gnomAD
rs1240962924 CA391225734	93	S>C		No	ClinGen gnomAD
rs1188744516 CA391225740	94	D>N		No	ClinGen TOPMed gnomAD
rs1188744516 CA391225739	94	D>Y		No	ClinGen TOPMed gnomAD
rs1370674003 CA391225752	95	A>T		No	ClinGen gnomAD
CA391225779 rs1458892001	97	L>P		No	ClinGen gnomAD
rs1405691569 CA391225794	98	Q>H		No	ClinGen gnomAD
rs1163840251 CA391225839	102	V>I		No	ClinGen TOPMed
CA391225846 rs772195759	103	S>N		No	ClinGen ExAC TOPMed gnomAD
rs772195759 CA7372265	103	S>T		No	ClinGen ExAC TOPMed gnomAD
rs1329227344 CA391225855	105	V>M		No	ClinGen gnomAD
rs1159199325 CA391225863	106	R>C		No	ClinGen gnomAD
COSM1368513 COSM1368514 CA391225867 rs1480273257 COSM1368512	107	A>T	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed
rs1260846547 CA391225873	108	V>I		No	ClinGen gnomAD
rs1555373368 CA391225884 RCV000516464	109	M>R		No	ClinGen ClinVar Ensembl dbSNP
CA391225900 rs1236232532	111	S>L		No	ClinGen TOPMed
rs1460629818 CA391225903	112	R>W		No	ClinGen TOPMed gnomAD
rs1595164091 CA391225918 VAR_073989	114	G>D	Focal segmental glomerulosclerosis 5 (fsgs5) [Ensembl]	No	ClinGen UniProt Ensembl dbSNP
rs747121366 CA7372267	115	I>V		No	ClinGen ExAC gnomAD
rs1181636296 CA391225929	116	E>K		No	ClinGen gnomAD
rs1595164111 CA391225937	117	Y>D		No	ClinGen Ensembl
CA7372269 rs777096903	120	S>N		No	ClinGen ExAC TOPMed gnomAD
CA391225972 rs1428719320	122	Q>E		No	ClinGen gnomAD
rs567356266 CA7372270	122	Q>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs994483790 CA267330553	123	G>D		No	ClinGen TOPMed
rs994483790 CA391225982	123	G>V		No	ClinGen TOPMed
CA7372273 COSM1188923 COSM1188921 COSM1188922 rs762621935	125	V>M	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA7372274 rs763689982	126	R>H		No	ClinGen ExAC gnomAD
CA391226000 rs763689982	126	R>L		No	ClinGen ExAC gnomAD
rs1431404747 CA391212607	131	A>V		No	ClinGen gnomAD
rs1349287714 CA391212608	132	L>M		No	ClinGen gnomAD
rs761626317 CA7372294	133	D>G		No	ClinGen ExAC gnomAD
rs1287139134 CA391212655	135	S>F		No	ClinGen TOPMed
rs1382169614 CA391212667	136	N>S		No	ClinGen gnomAD
rs1237835000 CA391212763	143	V>M		No	ClinGen TOPMed
CA267318528 rs993582870	144	F>C		No	ClinGen Ensembl
rs753852177 CA7372299	149	A>G		No	ClinGen ExAC TOPMed gnomAD
rs753852177 CA267318545	149	A>V		No	ClinGen ExAC TOPMed gnomAD
CA391212867 rs1566778512 RCV000681733	151	C>Y		No	ClinGen ClinVar Ensembl dbSNP
rs1027651999 CA391212899	153	Y>C		No	ClinGen gnomAD
CA267318554 rs1027651999	153	Y>S		No	ClinGen gnomAD
CA391212922 rs1595165899	155	P>S		No	ClinGen Ensembl
CA7372302 rs751772396	156	E>K		No	ClinGen ExAC gnomAD
COSM1210665 COSM1210664 COSM1210663 rs781188543 CA7372304	159	V>M	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA391213026 rs1424273846	163	D>V		No	ClinGen gnomAD
COSM1368519 COSM1368518 rs755015990 COSM1368520 CA267318594	164	A>T	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed
CA391213100 rs1456308453	168	Y>C		No	ClinGen gnomAD
rs767698763 CA7372322	170	T>M		No	ClinGen ExAC TOPMed gnomAD
rs1350470928 CA391213155	171	V>A		No	ClinGen gnomAD
CA7372324 rs756138910	172	C>G		No	ClinGen ExAC TOPMed gnomAD
rs1566778651 CA391213201 RCV000681709	177	R>P		No	ClinGen ClinVar Ensembl dbSNP
rs1279682394 CA391213219	180	I>V		No	ClinGen gnomAD
rs1312537060 CA391213240	183	N>H		No	ClinGen gnomAD
rs755557189 CA7372327	183	N>S		No	ClinGen ExAC gnomAD
rs1178207858 CA391213268	187	G>D		No	ClinGen TOPMed
rs772603803 CA7372330	187	G>S		No	ClinGen ExAC TOPMed gnomAD
rs772717787 CA7372331	188	S>N		No	ClinGen ExAC gnomAD
rs753287786 CA267318861	189	D>N		No	ClinGen gnomAD
rs1416500072 COSM3814324 COSM3814325 COSM3814326 CA391213293	191	V>M	breast [Cosmic]	No	ClinGen cosmic curated gnomAD
CA391213299 rs1168829317	192	P>S		No	ClinGen gnomAD
rs368298329 CA7372334	194	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA391213322 rs910783875	195	V>A		No	ClinGen gnomAD
CA267318883 rs910783875	195	V>G		No	ClinGen gnomAD
rs1595166165 CA391213318	195	V>I		No	ClinGen Ensembl
CA391213325 rs1310393018	196	T>S		No	ClinGen gnomAD
CA391213329 rs1343712688	197	L>M		No	ClinGen TOPMed gnomAD
rs1213058223 CA391213368	203	A>T		No	ClinGen gnomAD
rs764012283 CA7372339	205	I>T		No	ClinGen ExAC gnomAD
rs985281702 CA267318919	208	P>H		No	ClinGen TOPMed
CA267318921 rs1012899025	209	E>K		No	ClinGen gnomAD
rs755503622 CA7372344	211	L>P		No	ClinGen ExAC
CA267318951 rs748481552	212	R>C		No	ClinGen gnomAD
CA7372346 COSM379049 rs753304371 COSM379050	212	R>H	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
COSM953757 COSM1587258 COSM953756 CA7372348 rs778267218	213	A>T	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs746572452 CA7372349	213	A>V		No	ClinGen ExAC TOPMed gnomAD
CA267318983 rs868396226	216	Q>*		No	ClinGen Ensembl
rs530391015 CA267319020	220	E>*		No	ClinGen gnomAD
CA391213469 rs1299708161	220	E>D		No	ClinGen gnomAD
CA391213464 rs530391015	220	E>Q		No	ClinGen gnomAD
CA391213486 rs1209201341	223	G>R		No	ClinGen gnomAD
CA391213538 rs1253950182	229	V>A		No	ClinGen gnomAD
rs752058170 CA7372388	229	V>I		No	ClinGen ExAC TOPMed gnomAD
CA391213545 rs1201440371	231	A>T		No	ClinGen gnomAD
rs757630583 CA7372389	232	R>C		No	ClinGen ExAC gnomAD
rs767940514 CA7372390	232	R>H		No	ClinGen ExAC gnomAD
CA7372391 rs750014286	234	R>*		No	ClinGen ExAC gnomAD
CA391213561 rs1473650949	234	R>Q		No	ClinGen gnomAD
rs938116953 CA267321593	235	D>H		No	ClinGen Ensembl
rs543889606 CA7372408	236	L>R		No	ClinGen 1000Genomes ExAC gnomAD
CA7372407 rs774921607	236	L>V		No	ClinGen ExAC gnomAD
CA7372409 rs767815499	239	A>T		No	ClinGen ExAC gnomAD
CA267321606 rs867605884	239	A>V		No	ClinGen Ensembl
CA7372411 rs755724154	240	D>N		No	ClinGen ExAC gnomAD
rs753484833 CA7372413	246	E>Q		No	ClinGen ExAC gnomAD
rs991189454 CA267321649	247	A>T		No	ClinGen Ensembl
rs1211857426 CA391213957	247	A>V		No	ClinGen gnomAD
rs375843743 CA267321654	249	E>K		No	ClinGen ESP gnomAD
rs375843743 CA391213966	249	E>Q		No	ClinGen ESP gnomAD
rs1233164839 CA391213979	250	E>D		No	ClinGen TOPMed gnomAD
rs778352593 CA7372415	250	E>G		No	ClinGen ExAC gnomAD
rs1351906164 CA391213990	252	K>R		No	ClinGen TOPMed
rs1595169407 CA391214002	254	E>*		No	ClinGen Ensembl
rs748049609 CA7372416	254	E>A		No	ClinGen ExAC gnomAD
CA391214015 rs1566780249	256	E>K		No	ClinGen Ensembl
rs369277782 CA7372419	258	E>D		No	ClinGen ESP ExAC gnomAD
rs777657817 CA7372418	258	E>V		No	ClinGen ExAC gnomAD
CA7372420 rs770888317	260	L>R		No	ClinGen ExAC gnomAD
CA7372421 rs371266809	261	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
RCV000428001 CA7372422 rs749543418	261	R>Q		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA391214049 rs1425063043	262	V>I		No	ClinGen TOPMed
CA391214057 rs1364540701	263	S>A	Focal segmental glomerulosclerosis 5 (fsgs5) [Ensembl]	No	ClinGen TOPMed gnomAD
COSM1300421 CA391214059 COSM1300422 rs1227037613	263	S>C	urinary_tract [Cosmic]	No	ClinGen cosmic curated gnomAD
CA391214056 rs1364540701	263	S>P	Focal segmental glomerulosclerosis 5 (fsgs5) [Ensembl]	No	ClinGen TOPMed gnomAD
CA391214067 rs1322393100	265	G>R		No	ClinGen TOPMed gnomAD
CA391214076 rs1595169466	266	V>G		No	ClinGen Ensembl
CA7372427 rs773749344	268	M>V		No	ClinGen ExAC TOPMed
CA7372429 rs766785412	272	Q>*		No	ClinGen ExAC gnomAD
CA391214135 rs1248354438	274	V>I		No	ClinGen gnomAD
rs1486729681 CA391214158	277	S>F		No	ClinGen TOPMed gnomAD
rs753524014 CA7372430	279	F>L		No	ClinGen ExAC gnomAD
CA7372431 rs759115381	280	H>R		No	ClinGen ExAC TOPMed gnomAD
rs374935145 CA391214982	284	C>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA391215009 rs1281457965	286	P>S		No	ClinGen gnomAD
rs1355380763 CA391215023	287	V>L		No	ClinGen TOPMed
CA391215041 rs1218883483	288	S>F		No	ClinGen gnomAD
rs1348328624 CA391215068	290	Q>H		No	ClinGen gnomAD
rs1212928433 COSM1607380 COSM1607381 CA391215075	291	L>F	liver [Cosmic]	No	ClinGen cosmic curated gnomAD
COSM3814328 COSM3814327 rs757277927 CA7372455	293	S>L	breast [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA391215130 rs1210556016	296	Q>*		No	ClinGen gnomAD
rs778982194 CA7372459	296	Q>R		No	ClinGen ExAC gnomAD
rs1455907772 CA391215162	298	L>P		No	ClinGen gnomAD
rs1167252164 CA391215168	299	L>V		No	ClinGen TOPMed gnomAD
CA391215205 rs1430983289	301	L>P		No	ClinGen gnomAD
rs758465788 CA7372461	302	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1435944014 CA391215243	304	T>I		No	ClinGen gnomAD
CA7372462 rs777833852	304	T>P		No	ClinGen ExAC gnomAD
CA7372465 rs777010216	306	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1233122019 CA391215277	307	S>C		No	ClinGen TOPMed
rs746184095 CA7372466	307	S>P		No	ClinGen ExAC gnomAD
rs1466753309 CA391215287	308	S>N		No	ClinGen TOPMed
CA7372467 rs770240053	309	Q>R		No	ClinGen ExAC gnomAD
CA267322632 rs145742634	310	L>Q		No	ClinGen 1000Genomes gnomAD
rs145742634 CA391215320	310	L>R		No	ClinGen 1000Genomes gnomAD
CA391215314 rs1449385173	310	L>V		No	ClinGen gnomAD
CA391215390 rs1389968441	315	L>P		No	ClinGen gnomAD
rs1389968441 CA391215392	315	L>R		No	ClinGen gnomAD
CA391215386 rs1187019880	315	L>V		No	ClinGen gnomAD
rs762702624 CA7372469	317	S>G		No	ClinGen ExAC gnomAD
rs763642754 CA7372470	317	S>R		No	ClinGen ExAC TOPMed gnomAD
rs1404898036 CA391215425	318	L>F		No	ClinGen gnomAD
rs1274519959 CA391215446	319	V>G		No	ClinGen TOPMed
rs1397008193 CA391215437	319	V>M		No	ClinGen TOPMed gnomAD
rs1433210270 CA391215467	321	R>Q		No	ClinGen TOPMed gnomAD
CA391215525 rs1271932437	326	A>D		No	ClinGen gnomAD
rs750424579 CA7372474	328	D>N		No	ClinGen ExAC gnomAD
CA391215613 rs1364651157	330	Q>*		No	ClinGen gnomAD
rs1454095905 CA391215617	330	Q>H		No	ClinGen TOPMed gnomAD
rs1328657905 CA391215619	331	E>K		No	ClinGen TOPMed
CA7372491 rs773020110	331	E>V		No	ClinGen ExAC gnomAD
rs1399811407 CA391215628	332	C>G		No	ClinGen gnomAD
CA7372492 rs760664321	333	T>P		No	ClinGen ExAC TOPMed gnomAD
rs1376727596 CA391215642	334	L>P		No	ClinGen gnomAD
CA391215683 rs1291430885	340	R>Q		No	ClinGen TOPMed gnomAD
rs753651657 CA7372495	340	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1212221513 RCV000995262 CA391215723	347	R>Q		No	ClinGen ClinVar dbSNP gnomAD
CA391215726 rs1283160248	348	P>A		No	ClinGen gnomAD
rs1482104645 CA391215731	348	P>L		No	ClinGen gnomAD
CA7372498 rs146529868	350	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs146529868 CA391215742	350	P>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs146529868 CA7372499	350	P>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1421042962 CA391215756	352	P>L		No	ClinGen gnomAD
CA391215760 rs1375713265	353	L>Q		No	ClinGen gnomAD
CA7372501 rs756668317	354	V>F		No	ClinGen ExAC gnomAD
rs1174161600 CA391215770	355	K>E		No	ClinGen gnomAD
CA7372502 rs375622503	356	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1427773009 CA391215783	357	H>Y		No	ClinGen gnomAD
rs749639219 CA7372503	359	S>N		No	ClinGen ExAC TOPMed gnomAD
CA391215808 rs1321252974	360	V>G		No	ClinGen gnomAD
CA7372505 rs114820975	360	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA391215804 rs114820975	360	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1370704616 CA391215814	361	Q>R		No	ClinGen gnomAD
rs1306232906 CA391215832	364	L>V		No	ClinGen gnomAD
rs1195497497 CA391215840	365	D>G		No	ClinGen gnomAD
rs1340612270 CA391215844	366	Q>*		No	ClinGen TOPMed gnomAD
rs771419031 CA7372507	366	Q>H		No	ClinGen ExAC gnomAD
rs1340612270 CA391215846	366	Q>K		No	ClinGen TOPMed gnomAD
CA7372506 rs747903915	366	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA267322962 rs898230953	367	S>I		No	ClinGen TOPMed
rs772790262 CA7372508	370	G>V		No	ClinGen ExAC gnomAD
RCV001705315 rs770882784 CA7372510	372	S>F		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs776585357 CA7372511	373	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1447521620 CA391215897	374	Q>*		No	ClinGen TOPMed gnomAD
rs1447521620 CA391215896	374	Q>E		No	ClinGen TOPMed gnomAD
rs751724571 CA7372514	376	T>I		No	ClinGen ExAC gnomAD
CA391215917 rs1161076103	377	T>A		No	ClinGen gnomAD
CA267322998 rs1008805891	379	P>A		No	ClinGen Ensembl
CA267323004 rs1018844005	380	K>N		No	ClinGen TOPMed
CA7372515 rs762096939	380	K>R		No	ClinGen ExAC TOPMed gnomAD
CA391215955 rs1453254320	383	V>G		No	ClinGen Ensembl
rs780689756 CA7372519 RCV000493332	383	V>M		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs754457462 CA7372520	386	Q>R		No	ClinGen ExAC gnomAD
CA391215998 rs1254576606	390	A>P		No	ClinGen gnomAD
CA391216020 rs1463430236	393	A>V		No	ClinGen gnomAD
CA267323023 rs755392580	394	C>*		No	ClinGen ExAC TOPMed gnomAD
rs1417703338 CA391216022	394	C>R		No	ClinGen gnomAD
CA267323024 rs755392580	394	C>W		No	ClinGen ExAC TOPMed gnomAD
CA391216024 rs1262404501	394	C>Y		No	ClinGen gnomAD
RCV000235504 rs374769850 CA7372522	395	E>K		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA391216043 rs1416561484	396	P>A		No	ClinGen gnomAD
rs1566781410 CA391216058	397	V>E		No	ClinGen Ensembl
rs771775245 CA7372524 RCV000414390	397	V>M		No	ClinGen ClinVar ExAC dbSNP gnomAD
rs777103497 CA7372525	398	D>E		No	ClinGen ExAC gnomAD
rs1386891353 CA391216066	398	D>N		No	ClinGen gnomAD
RCV000734440 rs1364649058 CA391216091	400	A>T		No	ClinGen ClinVar dbSNP gnomAD
rs1394824888 CA391216110	401	Q>R		No	ClinGen gnomAD
rs770477971 CA7372527	402	S>N		No	ClinGen ExAC gnomAD
CA391216148 rs1235365370	403	E>D		No	ClinGen gnomAD
CA391216143 rs1356183663	403	E>G		No	ClinGen TOPMed gnomAD
rs776536088 CA7372528	404	S>G		No	ClinGen ExAC TOPMed gnomAD
rs759535604 CA391216156	404	S>I		No	ClinGen ExAC gnomAD
rs759535604 CA7372529	404	S>N		No	ClinGen ExAC gnomAD
rs1460129985 CA391216197	407	K>N		No	ClinGen gnomAD
CA391216221 rs1486781241	409	S>L		No	ClinGen gnomAD
rs1475279591 CA391216263	413	A>T		No	ClinGen gnomAD
rs1409359385 CA391216298	416	Q>E		No	ClinGen gnomAD
rs1418179167 CA391216330	418	A>S		No	ClinGen gnomAD
rs553174468 CA267323210	422	P>H		No	ClinGen 1000Genomes
CA7372540 rs767748953	422	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1263040681 CA391216400	423	P>Q		No	ClinGen TOPMed
rs1372825687 CA391216412	424	P>H		No	ClinGen TOPMed gnomAD
rs1372825687 CA391216415	424	P>R		No	ClinGen TOPMed gnomAD
RCV000860190 rs573567814 RCV000360949	425	P>missing		No	ClinVar dbSNP
CA391216428 RCV000506080 rs1555374270	425	P>L		No	ClinGen ClinVar Ensembl dbSNP
rs766635668 CA7372545	426	P>S		No	ClinGen ExAC TOPMed gnomAD
rs573567814 RCV000723187	427	P>missing		No	ClinVar dbSNP
CA391216445 rs1208616690	427	P>T		No	ClinGen TOPMed gnomAD
rs1373355462 CA391216451	428	P>S		No	ClinGen TOPMed
rs1566781582 RCV000723168	428	P>missing		No	ClinVar dbSNP
rs755557218 CA7372550	429	L>P		No	ClinGen ExAC TOPMed gnomAD
RCV000493138 rs1131691501 CA391216462	430	L>F		No	ClinGen ClinVar Ensembl dbSNP
rs753133884 CA7372552	430	L>P		No	ClinGen ExAC gnomAD
CA7372554 rs777455096	435	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1595171103 CA391216514	436	E>A		No	ClinGen Ensembl
rs1437161498 CA391216505	436	E>K		No	ClinGen gnomAD
CA391216534 rs746697423	437	P>H		No	ClinGen ExAC TOPMed gnomAD
CA7372555 rs746697423	437	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1375222598 CA391216565	439	P>L		No	ClinGen TOPMed gnomAD
CA391216552 rs1300172067	439	P>T		No	ClinGen gnomAD
rs1566781651 CA391216575	440	P>L		No	ClinGen Ensembl
CA391216571 rs1231855608	440	P>S		No	ClinGen TOPMed gnomAD
CA391216567 rs1231855608	440	P>T		No	ClinGen TOPMed gnomAD
rs1566781656 CA391216593	442	P>L		No	ClinGen Ensembl
rs1236420986 CA391216606	443	P>L		No	ClinGen gnomAD
rs1232555711 CA391216619	445	P>S		No	ClinGen TOPMed
CA7372561 rs775331561	446	L>P		No	ClinGen ExAC TOPMed gnomAD
CA391216655 rs1193354873	448	S>G		No	ClinGen gnomAD
CA391216674 rs1254049413	449	V>G		No	ClinGen gnomAD
CA391216680 rs572969666	450	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA391216692 rs1418872155	451	A>S		No	ClinGen gnomAD
rs1410648170 CA391216704	452	K>E		No	ClinGen gnomAD
rs1172758754 CA391216717	453	A>T		No	ClinGen gnomAD
rs1348312674 CA391216736	454	L>P		No	ClinGen gnomAD
CA391216738 rs1401072228	455	P>S		No	ClinGen TOPMed
CA391216754 rs1595171206	456	T>K		No	ClinGen Ensembl
rs1214688771 CA391216774	458	P>L		No	ClinGen gnomAD
CA7372566 rs760986113 RCV000605380	458	P>S		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
COSM1368524 rs766510967 CA7372567 COSM1368523	459	P>L	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed
rs1332159363 CA391216786	460	P>T		No	ClinGen TOPMed gnomAD
rs1458734397 CA391216807	461	P>L		No	ClinGen TOPMed
rs1212700148 CA391216801	461	P>S		No	ClinGen TOPMed gnomAD
rs1470165589 CA391216816	462	P>L		No	ClinGen TOPMed gnomAD
rs1470165589 CA391216814	462	P>R		No	ClinGen TOPMed gnomAD
rs955029927 CA267323344	463	L>P		No	ClinGen TOPMed gnomAD
CA391216834 rs1372258814	464	P>L		No	ClinGen TOPMed
CA391216836 rs1372258814	464	P>R		No	ClinGen TOPMed
rs1278033939 CA391216855	466	L>R		No	ClinGen TOPMed
rs1188304798 CA391216875	468	A>S		No	ClinGen TOPMed gnomAD
CA391216877 rs1188304798	468	A>T		No	ClinGen TOPMed gnomAD
CA391216882 rs1415783816	468	A>V		No	ClinGen gnomAD
CA391216887 rs1461056808	469	M>L		No	ClinGen TOPMed gnomAD
CA391216885 rs1461056808	469	M>V		No	ClinGen TOPMed gnomAD
rs1166010216 CA391216906	470	A>D		No	ClinGen TOPMed gnomAD
CA391216907 rs1166010216	470	A>G		No	ClinGen TOPMed gnomAD
CA391216909 rs1166010216	470	A>V		No	ClinGen TOPMed gnomAD
CA391216924 rs1394926932	471	P>L		No	ClinGen gnomAD
CA391216926 rs1316096936	472	P>T		No	ClinGen gnomAD
CA391216953 rs1431424168	474	P>S		No	ClinGen gnomAD
rs1271375014 CA391216964	475	P>A		No	ClinGen gnomAD
CA391216971 rs1353030762	475	P>L		No	ClinGen gnomAD
CA391216987 rs1337362473	477	P>T		No	ClinGen gnomAD
CA391217019 rs1203712573	479	P>L		No	ClinGen gnomAD
rs1595171384 CA391217030	480	L>P		No	ClinGen Ensembl
CA391217040 rs1448021172	481	P>R		No	ClinGen gnomAD
CA391217047 rs1441211514	482	G>C		No	ClinGen TOPMed
rs1218562289 CA391217054	483	S>A		No	ClinGen TOPMed gnomAD
CA7372571 rs753188664	483	S>F		No	ClinGen ExAC TOPMed gnomAD
rs201323100 CA7372572	484	C>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs544171369 CA7372574	488	P>S		No	ClinGen 1000Genomes ExAC gnomAD
rs1438965620 CA391217143	489	P>L		No	ClinGen gnomAD
rs1281943460 CA391217157	490	P>R		No	ClinGen TOPMed
rs866647973 CA267323371	491	P>H		No	ClinGen TOPMed gnomAD
rs1378009593 CA391217165	491	P>S		No	ClinGen TOPMed
CA391217185 rs1300036154	492	P>L		No	ClinGen TOPMed gnomAD
CA391217194 rs1373195576	493	P>R		No	ClinGen TOPMed
rs1595171443 CA391217213	494	L>P		No	ClinGen Ensembl
rs756913857 CA7372575	495	P>L		No	ClinGen ExAC TOPMed gnomAD
CA7372577 rs561201601 RCV000607227	500	P>L		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA391217304 rs1351932520	501	P>S		No	ClinGen gnomAD
CA391217300 rs1351932520	501	P>T		No	ClinGen gnomAD
rs749256122 CA7372580	502	P>Q		No	ClinGen ExAC gnomAD
CA7372579 rs780027901	502	P>S		No	ClinGen ExAC TOPMed gnomAD
CA391217324 rs1211639251	503	P>T		No	ClinGen gnomAD
rs1436237192 CA391217339	504	P>Q		No	ClinGen gnomAD
CA391217346 rs1363011877	505	P>S		No	ClinGen gnomAD
CA391217366 rs1160363735	506	L>P		No	ClinGen gnomAD
rs1434048826 CA391217408	510	M>T		No	ClinGen TOPMed gnomAD
rs771307506 CA7372584	513	G>D		No	ClinGen ExAC gnomAD
rs1389316251 CA391217466	514	P>R		No	ClinGen gnomAD
CA7372585 rs777030386	514	P>T		No	ClinGen ExAC TOPMed gnomAD
CA391217473 rs1214061742	515	P>S		No	ClinGen TOPMed
RCV000591895 rs111589086 CA7372587	516	P>L		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA391217479 rs1336704946	516	P>S		No	ClinGen gnomAD
CA7372590 rs763374096	519	P>T		No	ClinGen ExAC TOPMed gnomAD
CA391217504 rs1235690571	520	P>L		No	ClinGen gnomAD
rs369895163 CA391217510	522	L>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA391217525 rs1337611997	523	P>S		No	ClinGen TOPMed gnomAD
CA267323447 rs981093558	526	C>G		No	ClinGen Ensembl
CA7372592 rs751942076	526	C>Y		No	ClinGen ExAC gnomAD
rs928182488 CA391217584	527	S>R		No	ClinGen TOPMed gnomAD
CA267323461 rs373086375	527	S>R		No	ClinGen ESP
CA7372596 rs181694819	528	P>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs181694819 CA7372594	528	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7372595 rs181694819	528	P>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA391217606 rs1250919297	529	P>L		No	ClinGen gnomAD
CA267323479 rs1052608799	529	P>T		No	ClinGen TOPMed
RCV000236624 rs879254321	530	V>missing		No	ClinVar dbSNP
CA7372599 rs369984449	530	V>M	Focal segmental glomerulosclerosis 5 (fsgs5) [Ensembl]	No	ClinGen ESP ExAC TOPMed gnomAD
CA7372600 rs200386025	531	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7372602 rs747919341	533	G>D		No	ClinGen ExAC gnomAD
CA7372603 rs772037388	534	M>T		No	ClinGen ExAC TOPMed gnomAD
rs746159509 CA7372606	536	E>D		No	ClinGen ExAC gnomAD
CA267323555 rs377402690	538	I>V		No	ClinGen ESP TOPMed gnomAD
rs769014945 CA7372609	539	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1226843023 CA391217758	540	A>T		No	ClinGen gnomAD
CA391217772 rs1212072503	541	Q>H		No	ClinGen gnomAD
rs774890461 CA7372610	541	Q>R		No	ClinGen ExAC gnomAD
CA391217783 rs1467920811	542	V>A		No	ClinGen TOPMed gnomAD
rs1271026146 CA391217778	542	V>M		No	ClinGen gnomAD
CA391217828 rs1269437587	545	G>D		No	ClinGen gnomAD
CA391217831 rs1269437587	545	G>V		No	ClinGen gnomAD
CA391217841 rs1595171731	546	L>F		No	ClinGen Ensembl
rs1417077287 CA391217863	548	S>L		No	ClinGen TOPMed
rs952003452 CA267323597	549	A>T		No	ClinGen Ensembl
CA391217869 rs1191795011	549	A>V		No	ClinGen gnomAD
rs760262811 CA7372614	550	W>R		No	ClinGen ExAC TOPMed gnomAD
CA391217922 rs1566782111	554	H>Y		No	ClinGen Ensembl
rs1394197712 CA391217940	555	R>P		No	ClinGen gnomAD
rs1394197712 CA391217938	555	R>Q		No	ClinGen gnomAD
rs753323267 CA391217950	556	R>L		No	ClinGen ExAC TOPMed gnomAD
rs753323267 CA7372617	556	R>Q		No	ClinGen ExAC TOPMed gnomAD
RCV000236445 CA10584486 rs879254313	556	R>W		No	ClinGen ClinVar Ensembl dbSNP
CA7372618 rs199748471	557	V>G		No	ClinGen ExAC TOPMed gnomAD
CA391217952 rs1479711863	557	V>M		No	ClinGen TOPMed
rs778969100 CA7372619	558	N>D		No	ClinGen ExAC gnomAD
CA267323635 rs562865823	558	N>K		No	ClinGen ExAC gnomAD
rs562865823 CA7372620	558	N>K		No	ClinGen ExAC gnomAD
rs1342518068 CA391217997	560	P>L		No	ClinGen gnomAD
CA391218004 rs1334835727	561	T>P		No	ClinGen TOPMed
CA7372623 rs374332157	563	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs1214038183 CA391218034	563	R>H		No	ClinGen TOPMed gnomAD
CA391218038 rs1214038183	563	R>P		No	ClinGen TOPMed gnomAD
CA7372624 rs769928067	568	N>I		No	ClinGen ExAC
CA391218138 rs1341371485	571	K>N		No	ClinGen TOPMed
rs1484813694 CA391218155	573	P>A		No	ClinGen gnomAD
rs1484813694 CA391218157	573	P>S		No	ClinGen gnomAD
rs1595171837 CA391218168	574	S>P		No	ClinGen Ensembl
rs1012766837 CA267323649	575	N>S		No	ClinGen TOPMed gnomAD
rs1478553488 CA391218195	576	V>M		No	ClinGen TOPMed gnomAD
rs1185302468 CA391218218	577	A>V		No	ClinGen gnomAD
rs201593594 CA7372627	578	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs374535109 CA7372628	578	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs1379309869 CA391218362	581	N>Y		No	ClinGen TOPMed
CA391218423 rs1179608082	585	A>T		No	ClinGen TOPMed gnomAD
rs755219548 CA7372662	585	A>V		No	ClinGen ExAC TOPMed
rs748198931 CA7372664	590	P>A		No	ClinGen ExAC gnomAD
rs530285485 CA391218515	592	A>S		No	ClinGen 1000Genomes ExAC gnomAD
rs530285485 CA7372669	592	A>T		No	ClinGen 1000Genomes ExAC gnomAD
CA391218546 rs1242522237	594	A>G		No	ClinGen TOPMed
CA391218552 rs1595172475	595	V>L		No	ClinGen Ensembl
rs368948089 CA7372675	598	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA7372676 rs761825172	599	F>L		No	ClinGen ExAC gnomAD
CA391218630 rs1595172497	601	S>N		No	ClinGen Ensembl
CA7372677 rs767171111	601	S>R		No	ClinGen ExAC gnomAD
CA7372678 rs750267250	602	I>L		No	ClinGen ExAC gnomAD
rs1306491940 CA391218638	603	E>K		No	ClinGen TOPMed gnomAD
rs1306491940 CA391218639	603	E>Q		No	ClinGen TOPMed gnomAD
COSM1587256 rs1260381635 COSM953759 CA391218646	604	R>*	endometrium [Cosmic]	No	ClinGen cosmic curated gnomAD
CA267324203 rs897894309	608	F>L		No	ClinGen TOPMed gnomAD
CA7372685 rs757804349	610	A>V		No	ClinGen ExAC gnomAD
CA7372686 rs781371951	611	A>S		No	ClinGen ExAC gnomAD
CA7372688 rs770330496	615	E>Q		No	ClinGen ExAC gnomAD
rs748954572 CA7372690	621	P>L		No	ClinGen ExAC gnomAD
rs539256832 CA7372691 RCV000597249	622	R>G		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs539256832 CA7372692	622	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7372695 rs773186261	624	R>K		No	ClinGen ExAC gnomAD
rs1566782495 CA391218873	625	K>R		No	ClinGen Ensembl
CA267324239 rs878960936	628	K>T		No	ClinGen Ensembl
CA267324318 rs1007799807	630	I>V		No	ClinGen TOPMed
rs1595172697 CA391219002	631	T>I		No	ClinGen Ensembl
CA7372721 rs774484640	634	D>Y		No	ClinGen ExAC gnomAD
rs1595172709 CA391219028	635	A>V		No	ClinGen Ensembl
CA7372722 rs761939643	636	K>R		No	ClinGen ExAC gnomAD
rs767711403 CA7372723	641	L>V		No	ClinGen ExAC gnomAD
rs750902388 CA7372724	642	N>I		No	ClinGen ExAC gnomAD
rs750902388 CA391219075	642	N>S		No	ClinGen ExAC gnomAD
CA7372727 rs754226456	647	Q>*		No	ClinGen ExAC gnomAD
rs755349168 CA7372728	648	F>L		No	ClinGen ExAC gnomAD
CA7372729 rs778618856	648	F>Y		No	ClinGen ExAC TOPMed gnomAD
rs1047172155 CA267324991	653	E>D		No	ClinGen TOPMed
CA267324986 rs1047172155	653	E>D		No	ClinGen TOPMed
rs1401441980 CA391219487	656	A>V		No	ClinGen gnomAD
rs763711670 CA7372769	658	M>T		No	ClinGen ExAC gnomAD
COSM3936428 COSM3936429 rs756754311 CA7372771	660	R>Q	oesophagus [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1387861239 CA391219542	661	A>S		No	ClinGen gnomAD
rs1387861239 CA391219538	661	A>T		No	ClinGen gnomAD
CA391219553 rs1324817279	662	G>*		No	ClinGen gnomAD
CA7372772 rs144069981	663	D>E		No	ClinGen 1000Genomes ExAC gnomAD
rs1279137766 CA391219591	665	T>I		No	ClinGen TOPMed gnomAD
CA391219589 rs1279137766	665	T>N		No	ClinGen TOPMed gnomAD
CA267325022 rs755655190	666	K>E		No	ClinGen Ensembl
CA391219638 rs1278564101	669	V>A		No	ClinGen TOPMed
CA7372774 RCV000235340 rs756038490	669	V>M		No	ClinGen ClinVar ExAC dbSNP gnomAD
CA391219663 rs1595173517	671	V>G		No	ClinGen Ensembl
CA7372775 rs780081758	671	V>I		No	ClinGen ExAC gnomAD
RCV000455444 rs1060499868	673	K>missing		No	ClinVar dbSNP
CA391219699 rs1370319309	675	L>F		No	ClinGen TOPMed
rs771072587 CA7372780	681	E>K		No	ClinGen ExAC TOPMed gnomAD
CA391219776 rs1368262519	683	H>Y		No	ClinGen gnomAD
CA391219787 rs770166116	684	E>K		No	ClinGen ExAC gnomAD
CA7372783 rs770166116	684	E>Q		No	ClinGen ExAC gnomAD
rs201203979 CA7372815	685	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs199526439 CA7372814	685	I>V	Focal segmental glomerulosclerosis 5 (fsgs5) [Ensembl]	No	ClinGen ESP ExAC TOPMed gnomAD
rs746166885 CA7372818	689	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA7372817 rs781255309	689	R>W		No	ClinGen ExAC gnomAD
rs1216935151 CA391219893	692	T>A		No	ClinGen gnomAD
CA391219898 rs1469031746	692	T>R		No	ClinGen gnomAD
rs1219857388 COSM1587255 COSM953760 CA391219932	695	R>*	endometrium [Cosmic]	No	ClinGen cosmic curated TOPMed
CA7372821 rs372333024	695	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs372333024 CA7372820	695	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs769120676 CA7372822	696	A>V		No	ClinGen ExAC gnomAD
rs1256555211 CA391219955	697	K>M		No	ClinGen gnomAD
rs915797080 CA267325370	699	A>G		No	ClinGen TOPMed
rs1199797740 CA391219987	700	S>G		No	ClinGen gnomAD
rs1315221308 CA391219991	700	S>N		No	ClinGen TOPMed
rs377281840 CA7372823	700	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs772557416 CA7372825	701	A>T		No	ClinGen ExAC TOPMed gnomAD
rs765761299 CA7372828	702	D>E		No	ClinGen ExAC gnomAD
rs1435111471 CA391220092	707	L>V		No	ClinGen gnomAD
rs373806518 CA7372829	710	A>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs373806518 CA391220119	710	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1397806583 CA391220130	711	I>V		No	ClinGen gnomAD
CA7372830 rs759153097	712	P>S		No	ClinGen ExAC gnomAD
rs1354764398 CA391220242	715	Q>K		No	ClinGen gnomAD
CA7372849 rs769493931	717	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1566783338 CA391220279	718	I>T		No	ClinGen Ensembl
rs1488734518 CA391220299	720	C>R		No	ClinGen gnomAD
rs1196211409 CA391220315	721	M>V		No	ClinGen gnomAD
CA267325771 rs75181178	724	C>W		No	ClinGen Ensembl
rs1471717001 CA391220359	724	C>Y		No	ClinGen gnomAD
CA391220367 rs1162457210	725	E>*		No	ClinGen gnomAD
rs762960061 CA7372851	727	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1156240396 CA391220402	727	A>V		No	ClinGen gnomAD
rs533208785 CA7372854	729	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1339051053 CA391220424	729	A>V		No	ClinGen gnomAD
rs1566783386 CA391220449	732	D>H		No	ClinGen Ensembl
CA391220477 rs1595174413	733	M>I		No	ClinGen Ensembl
CA267325791 rs1053831941	733	M>V		No	ClinGen TOPMed gnomAD
rs375390523 CA7372859	735	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA7372858 rs371129528	735	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA391220510 rs1276707883	736	P>L		No	ClinGen gnomAD
CA391220514 rs1424669469	737	K>E		No	ClinGen TOPMed
rs1442093176 CA391220531	738	A>T		No	ClinGen gnomAD
rs887046911 CA267325808	739	Q>H		No	ClinGen Ensembl
CA391220555 rs1237851373	741	V>L		No	ClinGen gnomAD
rs1595174468 CA391220561	742	L>R		No	ClinGen Ensembl
CA391220569 rs1176772952	743	A>V		No	ClinGen gnomAD
CA391220579 rs1379114083	745	C>Y		No	ClinGen gnomAD
rs535377683 CA7372862	746	E>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA391220877 rs1595175407	750	T>P		No	ClinGen Ensembl
CA267327835 rs749405096	752	R>C		No	ClinGen TOPMed gnomAD
rs1450593874 CA391220893	752	R>H		No	ClinGen gnomAD
CA391220905 rs1167376837	754	L>V		No	ClinGen gnomAD
CA267327837 rs1053445277	758	C>*		No	ClinGen Ensembl
CA391220943 rs1198982780	759	Q>H		No	ClinGen TOPMed gnomAD
CA391220961 rs1270543764	762	L>R		No	ClinGen gnomAD
rs1566783866 CA391220999	768	L>V		No	ClinGen Ensembl
rs201886948 CA7372891	771	G>A		No	ClinGen ExAC gnomAD
rs774280485 CA391221040	772	S>N		No	ClinGen ExAC gnomAD
rs774280485 CA7372892	772	S>T		No	ClinGen ExAC gnomAD
CA391221049 rs1595175613	773	H>P		No	ClinGen Ensembl
rs1383669613 CA391221057	774	T>I		No	ClinGen gnomAD
CA7372895 rs773018735	777	A>P		No	ClinGen ExAC gnomAD
rs1350913423 CA391221079	778	D>N		No	ClinGen TOPMed gnomAD
CA391221158 rs1255918848	789	T>M		No	ClinGen gnomAD
CA391221187 rs1447256743	793	S>F		No	ClinGen TOPMed gnomAD
CA267327996 rs551824778	794	Q>R		No	ClinGen gnomAD
rs867444785 CA391221195	795	Q>E		No	ClinGen TOPMed
rs775636154 CA7372898	795	Q>H		No	ClinGen ExAC gnomAD
CA267328004 rs867444785	795	Q>K		No	ClinGen TOPMed
CA7372899 rs200261709	797	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA391221217 rs1595175685	798	V>G		No	ClinGen Ensembl
rs752048486 CA391221213	798	V>L		No	ClinGen ExAC gnomAD
rs752048486 CA7372901	798	V>M		No	ClinGen ExAC gnomAD
COSM1587253 COSM953763 rs1187599632 CA391221223	799	T>M	endometrium [Cosmic]	No	ClinGen cosmic curated gnomAD
rs756604082 CA7372905	804	V>A		No	ClinGen ExAC gnomAD
CA7372904 rs199979156	804	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1250038763 CA391221287	808	A>T		No	ClinGen TOPMed
CA391221317 rs1275409785	812	H>D		No	ClinGen TOPMed
rs1595176319 CA391221319	812	H>P		No	ClinGen Ensembl
CA391221337 rs1188920496	815	L>I		No	ClinGen gnomAD
rs766722858 CA7372940	819	P>S		No	ClinGen ExAC TOPMed gnomAD
CA7372942 rs759989953	820	R>L	Focal segmental glomerulosclerosis 5 (fsgs5) [Ensembl]	No	ClinGen ExAC TOPMed gnomAD
CA267328527 rs759989953	820	R>Q	Focal segmental glomerulosclerosis 5 (fsgs5) [Ensembl]	No	ClinGen ExAC TOPMed gnomAD
CA7372941 rs79327775	820	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1307076154 CA391221405	822	L>P		No	ClinGen TOPMed
rs1566784269 CA391221456	826	S>L		No	ClinGen Ensembl
CA391221474 rs1308094816	828	A>T		No	ClinGen TOPMed
rs374927429 CA267328529	829	A>S		No	ClinGen ESP TOPMed gnomAD
rs377340315 CA7372945	830	G>A	Focal segmental glomerulosclerosis 5 (fsgs5) [Ensembl]	No	ClinGen ESP ExAC TOPMed gnomAD
rs377340315 CA391221502	830	G>E	Focal segmental glomerulosclerosis 5 (fsgs5) [Ensembl]	No	ClinGen ESP ExAC TOPMed gnomAD
rs751004003 CA7372964	831	I>F		No	ClinGen ExAC gnomAD
CA391221616 rs1440538637	832	N>K		No	ClinGen TOPMed gnomAD
CA391221615 rs1440538637	832	N>K		No	ClinGen TOPMed gnomAD
rs1595177391 CA391221609	832	N>T		No	ClinGen Ensembl
rs575569437 CA7372965	833	L>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs374697429 CA7372968	837	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA391221684 rs1362767076	838	S>L		No	ClinGen gnomAD
CA7372970 rs748338859	840	A>T		No	ClinGen ExAC gnomAD
CA7372971 rs758659283	840	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1469566514 CA391221728	842	S>P		No	ClinGen gnomAD
CA391221738 rs1234759012	843	N>H		No	ClinGen TOPMed
CA267329291 rs1022509295	849	E>G		No	ClinGen TOPMed gnomAD
rs368901958 CA7372976	851	E>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7372975 rs776939784	851	E>K		No	ClinGen ExAC gnomAD
rs372129830 CA7372978	852	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs894961540 CA267329307	852	R>W		No	ClinGen TOPMed
CA267329324 rs1024880178	854	V>A		No	ClinGen TOPMed gnomAD
CA7372980 rs763715467	854	V>M		No	ClinGen ExAC TOPMed gnomAD
CA391221906 rs201292830	858	V>L	Focal segmental glomerulosclerosis 5 (fsgs5) [Ensembl]	No	ClinGen ESP ExAC TOPMed gnomAD
rs201292830 CA7372983	858	V>M	Focal segmental glomerulosclerosis 5 (fsgs5) [Ensembl]	No	ClinGen ESP ExAC TOPMed gnomAD
CA7372986 rs376094545	860	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs1471229828 CA391221935	862	Q>R		No	ClinGen TOPMed
CA7372987 rs753660816	866	T>A		No	ClinGen ExAC gnomAD
COSM3386430 rs777850657 COSM3386428 CA7372989	867	E>K	pancreas Focal segmental glomerulosclerosis 5 (fsgs5) [Cosmic, Ensembl]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA7372991 rs757230162	868	R>C		No	ClinGen ExAC gnomAD
CA7372992 rs369698920	868	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA391222006 rs1411695717	869	L>F		No	ClinGen gnomAD
CA7373022 rs776656133	871	A>V		No	ClinGen ExAC gnomAD
rs1566785104 CA391222094	872	S>R		No	ClinGen Ensembl
CA391222097 rs1453391298	873	I>V		No	ClinGen TOPMed gnomAD
rs1288069245 CA391222112	874	S>L		No	ClinGen gnomAD
CA7373027 rs142678449	877	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7373026 rs762706488	877	R>W		No	ClinGen ExAC gnomAD
rs1234390593 CA391222165	880	D>H		No	ClinGen gnomAD
CA7373029 rs756121077	882	L>P		No	ClinGen ExAC gnomAD
rs576821995 CA7373030	883	F>L		No	ClinGen 1000Genomes ExAC gnomAD
CA391222334 rs754300643	884	E>D		No	ClinGen ExAC gnomAD
CA7373033 rs779334385	886	I>M		No	ClinGen ExAC TOPMed gnomAD
CA7373032 rs755478662	886	I>V		No	ClinGen ExAC gnomAD
rs1274095800 CA391222355	888	Q>E		No	ClinGen TOPMed
CA391222361 rs1185484075	888	Q>H		No	ClinGen gnomAD
rs758752254 CA7373035	889	K>R		No	ClinGen ExAC gnomAD
rs926222455 CA267329737	891	R>W		No	ClinGen TOPMed gnomAD
CA7373044 rs763802374	905	S>F		No	ClinGen ExAC gnomAD
rs545624653 CA7373045	908	D>E		No	ClinGen 1000Genomes ExAC gnomAD
RCV000235718 CA7373047 rs201336550	909	T>K		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA7373046 rs201336550	909	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs950213940 CA267329756	910	F>V		No	ClinGen TOPMed
rs45502503 CA7373048	912	T>I		No	ClinGen ExAC TOPMed gnomAD
CA7373049 rs755068749	913	M>T		No	ClinGen ExAC gnomAD
CA7373051 rs753145511	915	A>S		No	ClinGen ExAC TOPMed gnomAD
CA7373052 rs199969944	915	A>V		No	ClinGen 1000Genomes ExAC gnomAD
rs746624312 CA7373054	917	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs778308700 CA7373053	917	R>W		No	ClinGen ExAC gnomAD
rs377145979 CA391222556	919	L>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA391222567 rs745372193	920	F>L		No	ClinGen ExAC TOPMed gnomAD
CA7373057 rs745372193	920	F>L		No	ClinGen ExAC TOPMed gnomAD
rs769256560 CA7373058	921	L>F		No	ClinGen ExAC gnomAD
rs775431460 CA7373059	922	R>C		No	ClinGen ExAC gnomAD
CA7373062 rs774099930	923	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1372251508 CA391222581	923	A>V		No	ClinGen TOPMed
CA391222640 rs764687744	930	R>G		No	ClinGen ExAC TOPMed gnomAD
CA7373089 rs752180110	930	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA7373088 rs764687744	930	R>W		No	ClinGen ExAC TOPMed gnomAD
rs762202347 CA7373090	931	K>N		No	ClinGen ExAC gnomAD
CA391222651 rs1474020700	932	E>Q		No	ClinGen Ensembl
rs200536159 CA267330008	933	Q>L		No	ClinGen 1000Genomes
rs1245251438 CA391222672	935	A>S		No	ClinGen gnomAD
rs1595178511 CA391222689	938	E>K		No	ClinGen Ensembl
rs971790248 CA267330030	939	R>K		No	ClinGen TOPMed
CA391222720 rs1216275213	942	Q>*		No	ClinGen gnomAD
rs1169747492 CA391222735	944	L>V		No	ClinGen TOPMed gnomAD
rs1249742050 CA391222742	945	A>V		No	ClinGen TOPMed gnomAD
rs1243295333 CA391222759	947	E>D		No	ClinGen gnomAD
rs1182433339 CA391222753	947	E>K		No	ClinGen TOPMed gnomAD
rs1473555311 CA391222764	948	E>A		No	ClinGen gnomAD
rs912951002 CA267330050	949	A>G		No	ClinGen TOPMed gnomAD
RCV001092394 rs912951002 CA391222772	949	A>V		No	ClinGen ClinVar TOPMed dbSNP gnomAD
CA267330069 rs978406474	950	R>Q		No	ClinGen TOPMed gnomAD
CA7373097 rs199873407	950	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs376506149 CA267330073	951	R>Q		No	ClinGen ESP TOPMed gnomAD
rs1404467783 CA391222777	951	R>W		No	ClinGen TOPMed gnomAD
rs1385146569 CA391222790	953	R>L		No	ClinGen TOPMed gnomAD
rs1385146569 CA391222789	953	R>P		No	ClinGen TOPMed gnomAD
CA267330080 rs942393807	953	R>W		No	ClinGen TOPMed gnomAD
rs1440140886 CA391222799	955	E>Q		No	ClinGen gnomAD
CA391222812 rs748088770	956	D>E		No	ClinGen ExAC TOPMed gnomAD
rs1279147972 CA391222805	956	D>N		No	ClinGen gnomAD
CA267330084 rs984879135	957	G>R		No	ClinGen TOPMed gnomAD
rs369417066 CA7373099	959	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
RCV000507880 rs369417066 RCV000766905 CA267330086	959	P>S		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA391222830 rs1321333119	960	V>I		No	ClinGen gnomAD
rs768809327 CA7373123	962	K>N		No	ClinGen ExAC gnomAD
rs376067427 CA7373122	962	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs376067427 CA7373121	962	K>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs774605954 CA7373124	963	G>E		No	ClinGen ExAC TOPMed gnomAD
rs774605954 CA391222863	963	G>V		No	ClinGen ExAC TOPMed gnomAD
CA7373125 rs748286029	964	P>R		No	ClinGen ExAC TOPMed gnomAD
CA267330217 rs370783381	965	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA7373127 rs370783381	965	G>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA7373128 rs201180682	966	K>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs879254296 CA10584488 RCV000235448	966	K>R		No	ClinGen ClinVar TOPMed dbSNP gnomAD
rs1269047408 CA391222889	968	E>*		No	ClinGen gnomAD
rs1339541668 CA391222893	968	E>G		No	ClinGen gnomAD
rs1357412493 CA391222930	974	D>N		No	ClinGen TOPMed
CA7373131 rs776214674	975	A>S		No	ClinGen ExAC TOPMed gnomAD
CA391222942 rs1445742295	975	A>V		No	ClinGen gnomAD
rs1374161975 CA391222968	980	I>V		No	ClinGen gnomAD
CA7373133 rs764912111	981	R>K		No	ClinGen ExAC TOPMed gnomAD
CA7373134 rs752183775	982	K>E		No	ClinGen ExAC gnomAD
rs1384784071 CA391223006	985	Q>R		No	ClinGen gnomAD
rs757988412 CA7373135	987	R>Q		No	ClinGen ExAC gnomAD
CA267330253 rs777407891	987	R>W		No	ClinGen gnomAD
CA7373137 rs562934742	989	T>I		No	ClinGen 1000Genomes ExAC gnomAD
CA391223035 rs1317504237	990	A>G		No	ClinGen gnomAD
CA391223033 rs1317504237	990	A>V		No	ClinGen gnomAD
CA7373139 rs781064993	991	R>Q		No	ClinGen ExAC gnomAD
rs756944015 CA7373138	991	R>W		No	ClinGen ExAC gnomAD
rs749482670 CA7373140	992	G>R		No	ClinGen ExAC gnomAD
rs935688609 CA267330266	993	R>C		No	ClinGen TOPMed gnomAD
rs531849769 CA7373141	993	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs748234626 CA391223058	995	D>V		No	ClinGen ExAC TOPMed gnomAD
CA391223066 rs370719592	997	D>H	Focal segmental glomerulosclerosis 5 (fsgs5) [Ensembl]	No	ClinGen ESP ExAC TOPMed gnomAD
CA7373145 rs370719592	997	D>N	Focal segmental glomerulosclerosis 5 (fsgs5) [Ensembl]	No	ClinGen ESP ExAC TOPMed gnomAD
rs747569209 CA7373146	998	G>R	Focal segmental glomerulosclerosis 5 (fsgs5) [Ensembl]	No	ClinGen ExAC TOPMed gnomAD
rs1318307747 CA391223081	999	G>D		No	ClinGen TOPMed
CA7373147 rs148541427	1000	S>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs377206408 CA267330293	1003	A>T		No	ClinGen TOPMed
rs866050834 CA267330296	1005	M>I		No	ClinGen Ensembl
CA7373149 rs368569489	1005	M>V	Focal segmental glomerulosclerosis 5 (fsgs5) [Ensembl]	No	ClinGen ESP ExAC TOPMed gnomAD
CA391223144 rs1566785743	1006	D>E		No	ClinGen Ensembl
rs1451040775 CA391223167	1008	P>R		No	ClinGen gnomAD
CA391223220 rs1389268909	1013	P>T		No	ClinGen gnomAD
rs1407969958 CA391223334	1017	S>R		No	ClinGen gnomAD
rs983208436 CA391223360	1018	N>K		No	ClinGen TOPMed gnomAD
CA391223355 rs1249757355	1018	N>S		No	ClinGen gnomAD
CA391223369 rs1206196121	1019	P>L		No	ClinGen gnomAD
rs762689516 CA7373170	1021	G>R		No	ClinGen ExAC gnomAD
CA391223395 rs1428448491	1022	D>A		No	ClinGen gnomAD
rs4983535 CA391223399	1022	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7373173 rs761286188	1024	V>M		No	ClinGen ExAC gnomAD
CA7373174 rs767556442	1025	G>D		No	ClinGen ExAC gnomAD
CA391223443 rs377023270	1026	S>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs760488958 CA7373176 RCV000518037	1027	T>M		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs760488958 CA267330520	1027	T>R		No	ClinGen ExAC TOPMed gnomAD
rs369987125 CA391223454	1028	R>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7373178 rs373317574	1029	C>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA391223474 rs1293490569	1030	P>T		No	ClinGen gnomAD
CA267330524 rs1050761365	1031	A>P		No	ClinGen TOPMed gnomAD
rs1050761365 CA391223484	1031	A>T		No	ClinGen TOPMed gnomAD
CA391223491 rs1276948774	1031	A>V		No	ClinGen gnomAD
CA391223503 rs1185901096	1033	E>K		No	ClinGen TOPMed gnomAD
CA7373181 rs751648279	1035	G>D		No	ClinGen ExAC gnomAD
rs781616845 CA7373183	1037	D>G		No	ClinGen ExAC gnomAD
rs1417326306 CA391223559	1038	A>T		No	ClinGen gnomAD
rs1316234873 CA391223567	1039	T>A		No	ClinGen TOPMed
CA267330535 rs868383975	1039	T>K		No	ClinGen Ensembl
CA7373184 rs746392134	1040	T>I		No	ClinGen ExAC TOPMed gnomAD
CA391223575 rs746392134	1040	T>K		No	ClinGen ExAC TOPMed gnomAD
rs1595179742 CA391223572	1040	T>P		No	ClinGen Ensembl
CA7373185 rs770095888	1041	A>G		No	ClinGen ExAC gnomAD
CA267330542 rs995128929	1041	A>P		No	ClinGen gnomAD
rs995128929 CA391223577	1041	A>T		No	ClinGen gnomAD
rs958862615 CA267330545	1043	E>K		No	ClinGen gnomAD
rs1439075351 CA391223597	1044	S>A		No	ClinGen gnomAD
rs200369827 CA7373188	1045	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA391223623 rs1595179783	1048	D>G		No	ClinGen Ensembl
CA391223629 rs1357553741	1049	L>F		No	ClinGen gnomAD
CA7373189 rs773940152	1049	L>P		No	ClinGen ExAC gnomAD
rs967496904 CA391223648	1052	A>D		No	ClinGen TOPMed
CA7373192 rs549518317	1052	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA267330551 rs967496904	1052	A>V		No	ClinGen TOPMed
rs1188634872 CA391223659	1054	T>I		No	ClinGen TOPMed gnomAD
rs1188634872 CA391223660	1054	T>S		No	ClinGen TOPMed gnomAD
CA391223666 rs1442369052	1055	P>R		No	ClinGen gnomAD
CA391223662 rs1249388751	1055	P>S		No	ClinGen gnomAD
CA7373195 rs528063130	1056	G>S		No	ClinGen ExAC gnomAD
rs1407364340 CA391223676	1057	P>R		No	ClinGen TOPMed gnomAD
CA391223682 rs1157384943	1058	Q>R		No	ClinGen TOPMed gnomAD
CA391223693 rs1345104862	1060	T>A		No	ClinGen gnomAD
CA391223695 rs1458294057	1060	T>I		No	ClinGen TOPMed gnomAD
CA391223702 rs1380741522	1061	L>R		No	ClinGen gnomAD
rs1281969631 CA391223740	1066	E>D		No	ClinGen TOPMed gnomAD
CA391223739 rs1312878047	1066	E>V		No	ClinGen TOPMed
CA391223742 rs1328349434	1067	G>S		No	ClinGen gnomAD
CA391223748 rs1361275356	1068	G>S		No	ClinGen TOPMed
CA391223755 rs1209329545	1069	P>S		No	ClinGen gnomAD
CA7373203 rs374424323	1070	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs750890507 CA7373202	1070	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1423711331 CA391223765	1071	P>H		No	ClinGen TOPMed
CA7373206 rs201445955	1074	R>K	Focal segmental glomerulosclerosis 5 (fsgs5) [Ensembl]	No	ClinGen ESP ExAC TOPMed gnomAD
CA267330594 rs376685243	1075	R>C		No	ClinGen gnomAD
rs747825472 CA7373208	1076	S>F		No	ClinGen ExAC gnomAD
CA267330606 rs950418393	1079	Y>C		No	ClinGen TOPMed gnomAD
CA7373210 rs571986941	1081	D>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7373211 rs571986941	1081	D>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7373213 rs143540449	1082	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA391223877 rs1290060097	1082	A>V		No	ClinGen gnomAD
CA7373215 rs557741807	1084	D>N		No	ClinGen 1000Genomes ExAC gnomAD
rs1278798595 CA391223914	1085	V>L		No	ClinGen gnomAD
CA7373216 rs368869709	1086	L>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA267330620 rs368869709	1086	L>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1483564458 CA391223951	1088	T>I		No	ClinGen gnomAD
CA391223957 rs1427744121	1089	E>K		No	ClinGen gnomAD
rs767768153 CA7373219	1090	D>A		No	ClinGen ExAC gnomAD
CA7373220 rs376315431	1091	P>S		No	ClinGen ExAC gnomAD
rs756245988 CA7373221	1093	C>F		No	ClinGen ExAC gnomAD
rs1408298147 CA391224018	1094	P>S		No	ClinGen gnomAD
rs1595180010 CA391224032	1096	P>H		No	ClinGen Ensembl
CA391224038 rs754313620	1097	L>S		No	ClinGen ExAC TOPMed
rs754313620 CA7373223	1097	L>W		No	ClinGen ExAC TOPMed
CA267330639 rs959248573	1100	A>V		No	ClinGen Ensembl
CA7373225 rs779176784	1102	P>L		No	ClinGen ExAC TOPMed gnomAD
CA391224071 rs1309680057	1102	P>S		No	ClinGen gnomAD
rs1274907990 CA391224084	1104	T>N		No	ClinGen gnomAD
CA391224082 rs1566786314	1104	T>S		No	ClinGen Ensembl
rs1346449763 CA391224112	1109	Q>E		No	ClinGen gnomAD
rs1212327132 CA391224121	1110	A>P		No	ClinGen gnomAD
rs1328952482 CA391224128	1111	L>P		No	ClinGen TOPMed
CA391224126 rs1353104180	1111	L>V		No	ClinGen TOPMed
CA391224140 rs1273383550	1113	P>S		No	ClinGen gnomAD
rs758097778 CA7373227	1114	L>F		No	ClinGen ExAC gnomAD
CA7373229 rs746515925	1116	F>L		No	ClinGen ExAC gnomAD
rs770354256 CA7373230	1117	S>T		No	ClinGen ExAC gnomAD
CA391224195 rs1400404162	1121	P>H		No	ClinGen TOPMed
CA391224202 rs1422015907	1122	P>R		No	ClinGen TOPMed
CA391224200 rs1300840692 COSM302422	1122	P>S	central_nervous_system [Cosmic]	No	ClinGen cosmic curated gnomAD
CA391224209 rs1401317670	1123	A>V		No	ClinGen gnomAD
CA7373234 rs775116734	1125	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1431929195 CA391224224	1126	S>N		No	ClinGen gnomAD
rs1595180122 CA391224251	1130	D>H		No	ClinGen Ensembl
rs576743784 CA267330706	1130	D>V		No	ClinGen 1000Genomes
CA7373236 rs542319858	1132	K>N		No	ClinGen 1000Genomes ExAC gnomAD
rs754329710 CA7373240	1136	S>T		No	ClinGen ExAC gnomAD
rs1296307976 CA391224337	1137	L>F		No	ClinGen gnomAD
CA7373246 rs751272946	1141	L>F		No	ClinGen ExAC gnomAD
rs756746505 CA7373247	1143	A>T		No	ClinGen ExAC gnomAD
rs769598010 CA7373250 COSM1368537 COSM1368535	1144	E>K	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1181929116 CA391224489	1145	A>S		No	ClinGen gnomAD
rs749079171 CA7373252	1146	D>N		No	ClinGen ExAC TOPMed gnomAD
CA391224548 rs1595180200	1148	T>A		No	ClinGen Ensembl
rs773373009 CA7373254	1148	T>K		No	ClinGen ExAC gnomAD
rs970901427 CA267330766	1150	E>G		No	ClinGen Ensembl
rs1314136483 CA391224627	1151	G>V		No	ClinGen TOPMed
rs771225174 CA7373256	1152	L>M		No	ClinGen ExAC gnomAD
rs776546949 CA7373257	1152	L>R		No	ClinGen ExAC
CA7373262 rs753263522	1154	D>A		No	ClinGen ExAC TOPMed gnomAD
CA7373260 rs759716488	1154	D>H		No	ClinGen ExAC
rs753263522 CA7373261	1154	D>V		No	ClinGen ExAC TOPMed gnomAD
CA7373259 rs759716488	1154	D>Y		No	ClinGen ExAC
CA7373267 rs764579106	1155	A>P		No	ClinGen ExAC gnomAD
rs764579106 CA7373265	1155	A>S		No	ClinGen ExAC gnomAD
rs764579106 CA7373266	1155	A>T		No	ClinGen ExAC gnomAD
CA7373268 rs199673276	1155	A>V		No	ClinGen ExAC gnomAD
rs1166494154 CA391224712	1156	V>A		No	ClinGen Ensembl
rs541027725 CA267330802	1157	H>R		No	ClinGen 1000Genomes
CA7373271 rs755718696	1158	S>N		No	ClinGen ExAC gnomAD
rs564510154 CA7373272	1159	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs564510154 CA391224751	1159	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs9672065 CA7373274 VAR_072238	1160	G>S		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA391224784 rs1595180270	1161	A>T		No	ClinGen Ensembl
rs1595180274 CA391224808	1162	R>S		No	ClinGen Ensembl
CA391224818 rs778644374	1163	P>H		No	ClinGen ExAC gnomAD
CA7373275 rs778644374	1163	P>L		No	ClinGen ExAC gnomAD
CA7373276 rs748024708	1164	P>L		No	ClinGen ExAC gnomAD
CA7373277 RCV000497978 rs771044828	1165	A>V		No	ClinGen ClinVar ExAC dbSNP gnomAD
rs745867688 CA7373280	1169	G>R		No	ClinGen ExAC gnomAD
CA7373279 rs745867688	1169	G>S		No	ClinGen ExAC gnomAD
rs776092624 CA7373281	1170	G>E		No	ClinGen ExAC TOPMed
CA7373283 rs764738599	1171	D>N		No	ClinGen ExAC gnomAD
CA7373286 rs774560807	1172	E>D		No	ClinGen ExAC gnomAD
rs767075044 CA7373289	1173	D>E		No	ClinGen ExAC TOPMed gnomAD
rs369263514 CA7373287	1173	D>V		No	ClinGen ESP ExAC gnomAD
rs755527335 CA7373290	1174	E>K		No	ClinGen ExAC TOPMed gnomAD
rs774238837 CA391225021	1175	D>E		No	ClinGen TOPMed
rs774238837 CA7373292	1175	D>E		No	ClinGen TOPMed
rs765901404 CA7373291	1175	D>N		No	ClinGen ExAC TOPMed gnomAD
CA7373294 rs371338527	1176	E>K		No	ClinGen ESP ExAC gnomAD
rs754883452 CA7373295	1177	E>D		No	ClinGen ExAC gnomAD
CA7373297 rs747890405	1179	T>M		No	ClinGen ExAC TOPMed gnomAD
rs370913466 CA7373299	1180	A>V		No	ClinGen ExAC gnomAD
CA391225126 rs1430235581	1181	P>R		No	ClinGen TOPMed gnomAD
rs769955462 CA7373301	1182	E>G		No	ClinGen ExAC gnomAD
rs746125914 CA7373300	1182	E>K		No	ClinGen ExAC gnomAD
rs769277114 CA7373304	1185	L>M		No	ClinGen ExAC gnomAD
rs1241375247 CA391225209	1187	T>A		No	ClinGen TOPMed
rs201715539 CA7373308	1188	S>Y	Focal segmental glomerulosclerosis 5 (fsgs5) [Ensembl]	No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7373309 rs760285939	1190	D>E		No	ClinGen ExAC gnomAD
rs1473568112 CA391225235	1190	D>N		No	ClinGen TOPMed gnomAD
rs1055238945 CA267330926	1193	F>S		No	ClinGen gnomAD
CA391225353 rs569502255	1195	E>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA391225336 rs1064796974	1195	E>K		No	ClinGen gnomAD
CA16619830 RCV000484728 rs1064796974	1195	E>Q		No	ClinGen ClinVar dbSNP gnomAD
CA7373311 rs753333052	1196	D>G		No	ClinGen ExAC gnomAD
rs1309081804 CA391225385	1197	A>S		No	ClinGen gnomAD
CA7373312 rs372714774	1197	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA7373316 rs777655394	1200	D>E		No	ClinGen ExAC gnomAD
CA7373314 rs764338863	1200	D>N		No	ClinGen ExAC TOPMed gnomAD
CA391225455 rs1235517512	1201	S>F		No	ClinGen gnomAD
rs751351877 CA7373317	1202	S>L		No	ClinGen ExAC TOPMed gnomAD
CA7373319 rs780485574	1203	G>R		No	ClinGen ExAC gnomAD
rs376222605 CA7373321	1204	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA391225495 rs376222605	1204	S>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA267330961 rs956685612	1205	G>D		No	ClinGen TOPMed gnomAD
CA391225510 rs1266628897	1206	T>I		No	ClinGen gnomAD
CA7373324 rs772493072	1207	L>P		No	ClinGen ExAC TOPMed gnomAD
CA391225533 rs1347620757	1208	P>L		No	ClinGen TOPMed
CA7373326 rs754263906	1211	R>L	Focal segmental glomerulosclerosis 5 (fsgs5) [Ensembl]	No	ClinGen ExAC TOPMed gnomAD
CA7373327 rs754263906	1211	R>Q	Focal segmental glomerulosclerosis 5 (fsgs5) [Ensembl]	No	ClinGen ExAC TOPMed gnomAD
rs374049468 CA7373325	1211	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA391225587 rs199801767	1213	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA391225585 rs199801767	1213	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1295576394 CA391225589	1214	A>T		No	ClinGen gnomAD
CA267330980 rs957717914	1215	S>P		No	ClinGen Ensembl
rs762917048 CA7373333	1217	G>E		No	ClinGen ExAC gnomAD
rs780359090 CA7373337	1219	G>A		No	ClinGen ExAC
CA267330992 rs955277897	1219	G>R		No	ClinGen TOPMed gnomAD
rs1194952349 CA391225679	1221	R>*		No	ClinGen TOPMed gnomAD
rs754128326 CA7373338	1221	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs755067241 CA7373339	1222	R>K		No	ClinGen ExAC TOPMed gnomAD
rs779017318 CA7373341	1225	R>C		No	ClinGen ExAC TOPMed gnomAD
rs779017318 CA7373340	1225	R>G		No	ClinGen ExAC TOPMed gnomAD
CA7373342 rs571301599	1225	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA391225736 rs1403895909	1226	P>A		No	ClinGen gnomAD
rs796487602 CA267330998	1227	S>F		No	ClinGen Ensembl
rs1350971268 CA391225758	1228	R>G		No	ClinGen gnomAD
rs747307190 CA7373344	1229	S>G		No	ClinGen ExAC gnomAD
CA391225820 rs1364481146	1232	E>K		No	ClinGen gnomAD
CA267331205 rs570323218	1233	V>D		No	ClinGen 1000Genomes TOPMed
CA7373368 rs746281923	1233	V>F		No	ClinGen ExAC gnomAD
rs746281923 CA267331202	1233	V>I		No	ClinGen ExAC gnomAD
CA391226200 rs1423214619	1237	S>C		No	ClinGen gnomAD
CA391226194 rs1160345670	1237	S>T		No	ClinGen gnomAD
CA391226203 rs1290467030	1238	D>N		No	ClinGen gnomAD
rs748770666 CA391226224	1239	D>E		No	ClinGen ExAC TOPMed gnomAD
rs1177010650 CA391226215	1239	D>N		No	ClinGen TOPMed gnomAD
CA391226229 rs1416376008	1240	N>D		No	ClinGen gnomAD
rs1306025921 CA391226236	1240	N>S		No	ClinGen TOPMed gnomAD
rs768068589 CA7373374	1241	K>R		No	ClinGen ExAC gnomAD
CA267331215 rs4983380	1242	T>A		No	ClinGen Ensembl
CA7373375 rs774385311	1242	T>I		No	ClinGen ExAC
CA267331220 rs1026924897	1243	K>E		No	ClinGen TOPMed
CA391226272 rs1323987101	1244	K>E		No	ClinGen TOPMed
rs1342205609 CA391226277	1244	K>R		No	ClinGen gnomAD
rs761808106 RCV000995264 CA391226291	1245	L>P		No	ClinGen ClinVar ExAC dbSNP gnomAD
CA7373377 rs761808106	1245	L>Q		No	ClinGen ExAC gnomAD
CA7373379 rs555680535	1246	C>S	Focal segmental glomerulosclerosis 5 (fsgs5) [Ensembl]	No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1566787065 RCV000723073	1249	Q>missing		No	ClinVar dbSNP
rs1566787067 CA391226348	1250	Q>Y		No	ClinGen Ensembl

2 associated diseases with Q27J81

[MIM: 613237]: Focal segmental glomerulosclerosis 5 (FSGS5)

A renal pathology defined by the presence of segmental sclerosis in glomeruli and resulting in proteinuria, reduced glomerular filtration rate and progressive decline in renal function. Renal insufficiency often progresses to end-stage renal disease, a highly morbid state requiring either dialysis therapy or kidney transplantation. {ECO:0000269|PubMed:20023659, ECO:0000269|PubMed:21258034, ECO:0000269|PubMed:21866090, ECO:0000269|PubMed:22971997, ECO:0000269|PubMed:23014460, ECO:0000269|PubMed:25165188}. Note=The disease is caused by variants affecting the gene represented in this entry.

[MIM: 614455]: Charcot-Marie-Tooth disease, dominant, intermediate type, E (CMTDIE)

A form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. The dominant intermediate type E is characterized by clinical and pathologic features intermediate between demyelinating and axonal peripheral neuropathies, and motor median nerve conduction velocities ranging from 25 to 45 m/sec. Patients additionally manifest focal segmental glomerulonephritis, proteinuria, progression to end-stage renal disease, and a characteristic histologic pattern on renal biopsy. {ECO:0000269|PubMed:22187985, ECO:0000269|PubMed:24174593, ECO:0000269|PubMed:24750328, ECO:0000269|PubMed:25165188, ECO:0000269|PubMed:25676889}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

A renal pathology defined by the presence of segmental sclerosis in glomeruli and resulting in proteinuria, reduced glomerular filtration rate and progressive decline in renal function. Renal insufficiency often progresses to end-stage renal disease, a highly morbid state requiring either dialysis therapy or kidney transplantation. {ECO:0000269|PubMed:20023659, ECO:0000269|PubMed:21258034, ECO:0000269|PubMed:21866090, ECO:0000269|PubMed:22971997, ECO:0000269|PubMed:23014460, ECO:0000269|PubMed:25165188}. Note=The disease is caused by variants affecting the gene represented in this entry.
A form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. The dominant intermediate type E is characterized by clinical and pathologic features intermediate between demyelinating and axonal peripheral neuropathies, and motor median nerve conduction velocities ranging from 25 to 45 m/sec. Patients additionally manifest focal segmental glomerulonephritis, proteinuria, progression to end-stage renal disease, and a characteristic histologic pattern on renal biopsy. {ECO:0000269|PubMed:22187985, ECO:0000269|PubMed:24174593, ECO:0000269|PubMed:24750328, ECO:0000269|PubMed:25165188, ECO:0000269|PubMed:25676889}. Note=The disease is caused by variants affecting the gene represented in this entry.

3 regional properties for Q27J81

Type	Name	Position	InterPro Accession
domain	Formin, FH3 domain	156 - 343	IPR010472
domain	Formin, GTPase-binding domain	1 - 152	IPR010473
domain	Formin, FH2 domain	554 - 988	IPR015425

Functions

		Description
EC Number
Subcellular Localization	Cytoplasm, perinuclear region
PANTHER Family	PTHR46345	INVERTED FORMIN-2
PANTHER Subfamily	PTHR46345:SF5	INVERTED FORMIN-2
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

1 GO annotations of cellular component

Name	Definition
perinuclear region of cytoplasm	Cytoplasm situated near, or occurring around, the nucleus.

2 GO annotations of molecular function

Name	Definition
actin binding	Binding to monomeric or multimeric forms of actin, including actin filaments.
small GTPase binding	Binding to a small monomeric GTPase.

2 GO annotations of biological process

Name	Definition
actin cytoskeleton organization	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising actin filaments and their associated proteins.
regulation of mitochondrial fission	Any process that modulates the rate, frequency or extent of mitochondrial fission. Mitochondrial fission is the division of a mitochondrion within a cell to form two or more separate mitochondrial compartments.

15 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
A0A1D5P556	DAAM2	Disheveled-associated activator of morphogenesis 2	Gallus gallus (Chicken)	SS
O95466	FMNL1	Formin-like protein 1	Homo sapiens (Human)	SS
Q9Y4D1	DAAM1	Disheveled-associated activator of morphogenesis 1	Homo sapiens (Human)	EV
Q86T65	DAAM2	Disheveled-associated activator of morphogenesis 2	Homo sapiens (Human)	SS
O60610	DIAPH1	Protein diaphanous homolog 1	Homo sapiens (Human)	SS
Q9NSV4	DIAPH3	Protein diaphanous homolog 3	Homo sapiens (Human)	SS
O60879	DIAPH2	Protein diaphanous homolog 2	Homo sapiens (Human)	SS
Q80U19	Daam2	Disheveled-associated activator of morphogenesis 2	Mus musculus (Mouse)	SS
Q8BPM0	Daam1	Disheveled-associated activator of morphogenesis 1	Mus musculus (Mouse)	PR
Q0QWG9	Grid2ip	Delphilin	Mus musculus (Mouse)	PR
Q0GNC1	Inf2	Inverted formin-2	Mus musculus (Mouse)	SS
Q9C7S1	FH12	Formin-like protein 12	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9LH02	FH17	Formin-like protein 17	Arabidopsis thaliana (Mouse-ear cress)	PR
P0C5K4	FH21A	Putative formin-like protein 21a	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9FF14	FH19	Formin-like protein 19	Arabidopsis thaliana (Mouse-ear cress)	PR

10	20	30	40	50	60
MSVKEGAQRK	WAALKEKLGP	QDSDPTEANL	ESADPELCIR	LLQMPSVVNY	SGLRKRLEGS
70	80	90	100	110	120
DGGWMVQFLE	QSGLDLLLEA	LARLSGRGVA	RISDALLQLT	CVSCVRAVMN	SRQGIEYILS
130	140	150	160	170	180
NQGYVRQLSQ	ALDTSNVMVK	KQVFELLAAL	CIYSPEGHVL	TLDALDHYKT	VCSQQYRFSI
190	200	210	220	230	240
VMNELSGSDN	VPYVVTLLSV	INAVILGPED	LRARTQLRNE	FIGLQLLDVL	ARLRDLEDAD
250	260	270	280	290	300
LLIQLEAFEE	AKAEDEEELL	RVSGGVDMSS	HQEVFASLFH	KVSCSPVSAQ	LLSVLQGLLH
310	320	330	340	350	360
LEPTLRSSQL	LWEALESLVN	RAVLLASDAQ	ECTLEEVVER	LLSVKGRPRP	SPLVKAHKSV
370	380	390	400	410	420
QANLDQSQRG	SSPQNTTTPK	PSVEGQQPAA	AAACEPVDHA	QSESILKVSQ	PRALEQQAST
430	440	450	460	470	480
PPPPPPPPLL	PGSSAEPPPP	PPPPPLPSVG	AKALPTAPPP	PPLPGLGAMA	PPAPPLPPPL
490	500	510	520	530	540
PGSCEFLPPP	PPPLPGLGCP	PPPPPLLPGM	GWGPPPPPPP	LLPCTCSPPV	AGGMEEVIVA
550	560	570	580	590	600
QVDHGLGSAW	VPSHRRVNPP	TLRMKKLNWQ	KLPSNVAREH	NSMWASLSSP	DAEAVEPDFS
610	620	630	640	650	660
SIERLFSFPA	AKPKEPTMVA	PRARKEPKEI	TFLDAKKSLN	LNIFLKQFKC	SNEEVAAMIR
670	680	690	700	710	720
AGDTTKFDVE	VLKQLLKLLP	EKHEIENLRA	FTEERAKLAS	ADHFYLLLLA	IPCYQLRIEC
730	740	750	760	770	780
MLLCEGAAAV	LDMVRPKAQL	VLAACESLLT	SRQLPIFCQL	ILRIGNFLNY	GSHTGDADGF
790	800	810	820	830	840
KISTLLKLTE	TKSQQNRVTL	LHHVLEEAEK	SHPDLLQLPR	DLEQPSQAAG	INLEIIRSEA
850	860	870	880	890	900
SSNLKKLLET	ERKVSASVAE	VQEQYTERLQ	ASISAFRALD	ELFEAIEQKQ	RELADYLCED
910	920	930	940	950	960
AQQLSLEDTF	STMKAFRDLF	LRALKENKDR	KEQAAKAERR	KQQLAEEEAR	RPRGEDGKPV
970	980	990	1000	1010	1020
RKGPGKQEEV	CVIDALLADI	RKGFQLRKTA	RGRGDTDGGS	KAASMDPPRA	TEPVATSNPA
1030	1040	1050	1060	1070	1080
GDPVGSTRCP	ASEPGLDATT	ASESRGWDLV	DAVTPGPQPT	LEQLEEGGPR	PLERRSSWYV
1090	1100	1110	1120	1130	1140
DASDVLTTED	PQCPQPLEGA	WPVTLGDAQA	LKPLKFSSNQ	PPAAGSSRQD	AKDPTSLLGV
1150	1160	1170	1180	1190	1200
LQAEADSTSE	GLEDAVHSRG	ARPPAAGPGG	DEDEDEEDTA	PESALDTSLD	KSFSEDAVTD
1210	1220	1230	1240
SSGSGTLPRA	RGRASKGTGK	RRKKRPSRSQ	EEVPPDSDDN	KTKKLCVIQ