AiPD: Autoinhibited Protein Database

O14678

Gene name	ABCD4
Protein name	Lysosomal cobalamin transporter ABCD4
Names	ADAM 10, CDw156, Kuzbanian protein homolog, Mammalian disintegrin-metalloprotease, ATP-binding cassette sub-family D member 4, PMP70-related protein, P70R, Peroxisomal membrane protein 1-like, PXMP1-L, Peroxisomal membrane protein 69, PMP69
Species	Homo sapiens (Human)
KEGG Pathway	hsa:5826
EC number	7.6.2.8: Linked to the hydrolysis of a nucleoside triphosphate
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-45 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-45 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

Yeon JH et al. (2016) "Systems-wide Identification of cis-Regulatory Elements in Proteins", Cell Systems, 2, 89-100

Autoinhibited structure

Activated structure

2 structures for O14678

Entry ID	Method	Resolution	Chain	Position	Source
6JBJ	EM	360 A	A/B	2-606	PDB
AF-O14678-F1	Predicted				AlphaFoldDB

554 variants for O14678

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV000431944 rs139863822 RCV000967659 CA7267377	4	A>P	Methylmalonic acidemia with homocystinuria, type cblJ [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs972140495 RCV001053830	14	P>A	Methylmalonic acidemia with homocystinuria, type cblJ [ClinVar]	Yes	ClinVar dbSNP
rs2084043062 RCV001230905	30	V>G	Methylmalonic acidemia with homocystinuria, type cblJ [ClinVar]	Yes	ClinVar dbSNP
rs147446660 CA390381021 CA7267331 RCV001034174 RCV000414128 RCV002523924	47	L>F	Methylmalonic acidemia with homocystinuria, type cblJ Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000429464 CA7267307 rs58272575 RCV001518948	59	Q>R	Methylmalonic acidemia with homocystinuria, type cblJ [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs371774856 RCV000690492 CA7267253	118	H>Y	Methylmalonic acidemia with homocystinuria, type cblJ [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA7267250 RCV000689127 rs141808601	122	L>F	Methylmalonic acidemia with homocystinuria, type cblJ [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001218254 CA7267246 rs368694663	125	R>Q	Methylmalonic acidemia with homocystinuria, type cblJ [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs61744947 CA7267242 RCV001518947 RCV000440459	128	A>V	Methylmalonic acidemia with homocystinuria, type cblJ [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA7267234 rs145141432 COSM195954 RCV000696754	136	R>W	Methylmalonic acidemia with homocystinuria, type cblJ large_intestine [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
VAR_084972 CA7267230 rs776529140	141	N>K	MAHCJ; does not affect ATPase activity. Loss of cobalamin transport activity. Decreases interaction with LMBD1. Does not affect lysosomal subcellular location [UniProt]	Yes	ClinGen UniProt ExAC TOPMed dbSNP gnomAD
rs747354548 RCV000803513 CA263575147	168	P>L	Methylmalonic acidemia with homocystinuria, type cblJ [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV000906742 CA7267193 rs188205145	173	Y>C	Methylmalonic acidemia with homocystinuria, type cblJ [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV001254055 rs1410990711 CA390377152 COSM1371047	186	G>R	Variant assessed as Somatic; 0.0 impact. Methylmalonic acidemia with homocystinuria, type cblJ large_intestine [NCI-TCGA, ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar NCI-TCGA TOPMed dbSNP
RCV000801008 CA7267152 rs183607306	189	S>G	Methylmalonic acidemia with homocystinuria, type cblJ [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001210455 rs538521064 CA7267142	204	L>S	Methylmalonic acidemia with homocystinuria, type cblJ [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV001210777 rs761053363 CA7267073	243	H>Y	Methylmalonic acidemia with homocystinuria, type cblJ [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV001083323 CA7267070 RCV000423379 rs141868117	251	R>C	Methylmalonic acidemia with homocystinuria, type cblJ [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs139315421 RCV001038137 CA7267069 RCV000420675	251	R>H	Methylmalonic acidemia with homocystinuria, type cblJ [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001477307 CA7267063 rs201664321	259	T>S	Methylmalonic acidemia with homocystinuria, type cblJ [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001230904 CA390384519 rs1566959741	267	E>D	Methylmalonic acidemia with homocystinuria, type cblJ [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001224051 rs2081908223	274	I>N	Methylmalonic acidemia with homocystinuria, type cblJ [ClinVar]	Yes	ClinVar dbSNP
rs764251926 CA7267033 RCV001241441	287	V>I	Methylmalonic acidemia with homocystinuria, type cblJ [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
CA7267020 RCV001514648 VAR_020778 rs4148077 RCV000249059	304	A>T	Methylmalonic acidemia with homocystinuria, type cblJ [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA130166 RCV000059785 rs201777056 RCV000030859 VAR_069097 RCV002265570	319	Y>C	Methylmalonic acidemia with homocystinuria, type cblJ Cobalamin C disease MAHCJ; strong decrease of ATPase activity. Strong decrease of cobalamin transport activity [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD
RCV001247760 CA390382985 rs1446995315	340	Y>C	Methylmalonic acidemia with homocystinuria, type cblJ [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV002065699 CA7266951 rs147100216	348	R>L	Methylmalonic acidemia with homocystinuria, type cblJ [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000970744 rs147100216 CA7266950 RCV000616264	348	R>Q	Methylmalonic acidemia with homocystinuria, type cblJ [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000438405 CA7266952 RCV000524817 rs147795328	348	R>W	Methylmalonic acidemia with homocystinuria, type cblJ [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001056619 rs35073715 CA7266949	350	T>M	Methylmalonic acidemia with homocystinuria, type cblJ [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000539320 CA7266948 rs35073715 RCV000421280 VAR_048135	350	T>R	Methylmalonic acidemia with homocystinuria, type cblJ [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs201100662 RCV003138007 CA7266938 RCV000424993	365	G>C	Methylmalonic acidemia with homocystinuria, type cblJ [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA7266933 rs3742801 RCV000254106 RCV001510699 VAR_020222	368	E>K	Methylmalonic acidemia with homocystinuria, type cblJ [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs149139488 RCV001306048 CA7266899	379	A>V	Methylmalonic acidemia with homocystinuria, type cblJ [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs374984401 CA7266881 RCV000341455 RCV001859625 RCV002519188	413	E>K	Variant assessed as Somatic; 0.0 impact. Methylmalonic acidemia with homocystinuria, type cblJ Inborn genetic diseases [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV001343346 rs2081160348	419	I>V	Methylmalonic acidemia with homocystinuria, type cblJ [ClinVar]	Yes	ClinVar dbSNP
rs745414252 VAR_084973 CA7266871	432	R>Q	Variant assessed as Somatic; 0.0 impact. MAHCJ; decreases interaction with LMBD1. Does not affect lysosomal subcellular location. Decreases ATPase activity [NCI-TCGA, UniProt]	Yes	ClinGen UniProt ExAC NCI-TCGA dbSNP
RCV001240325 rs2081143591	436	G>S	Methylmalonic acidemia with homocystinuria, type cblJ [ClinVar]	Yes	ClinVar dbSNP
CA7266864 RCV002561077 rs200761248 RCV001200594	439	T>M	Methylmalonic acidemia with homocystinuria, type cblJ [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV001306026 CA7266860 rs199986349 RCV002543149	442	R>Q	Methylmalonic acidemia with homocystinuria, type cblJ Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001295781 rs759539743 CA7266837	446	Q>R	Methylmalonic acidemia with homocystinuria, type cblJ [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA263583178 RCV000714652 rs969369250	449	T>M	Methylmalonic acidemia with homocystinuria, type cblJ [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
rs1594861158 CA390380835 RCV000817488	451	F>S	Methylmalonic acidemia with homocystinuria, type cblJ [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1360319567 CA390380630 RCV001326487 COSM1172229	468	G>R	oesophagus Methylmalonic acidemia with homocystinuria, type cblJ [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar TOPMed dbSNP gnomAD
CA7266821 rs45568335 RCV000443723 RCV000763942	471	R>W	Methylmalonic acidemia with homocystinuria, type cblJ [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA263582801 RCV001067196 rs1045211254	476	Y>H	Methylmalonic acidemia with homocystinuria, type cblJ [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
RCV000755203 RCV000820142 RCV002526975 CA7266765 rs139901585	489	D>N	Methylmalonic acidemia with homocystinuria, type cblJ Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA390377096 RCV000813625 rs138753274	560	S>R	Methylmalonic acidemia with homocystinuria, type cblJ [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
COSM698684 RCV001229074 CA390377057 rs1204078851	564	R>H	lung Variant assessed as Somatic; 0.0 impact. Methylmalonic acidemia with homocystinuria, type cblJ [Cosmic, NCI-TCGA, ClinVar]	Yes	ClinGen cosmic curated ClinVar NCI-TCGA dbSNP gnomAD
RCV000487235 CA7266617 RCV000430645 rs143288344 RCV001081993	579	R>Q	Methylmalonic acidemia with homocystinuria, type cblJ [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs387907315 RCV000030860	583	E>missing	Methylmalonic acidemia with homocystinuria, type cblJ [ClinVar]	Yes	ClinVar dbSNP
rs773609274 CA7266570 RCV001250062	598	W>C	Methylmalonic acidemia with homocystinuria, type cblJ [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA7267380 rs368445200	2	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs780704624 CA7267379	3	V>G		No	ClinGen ExAC gnomAD
CA390382024 rs139863822	4	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7267376 rs779381980	4	A>V		No	ClinGen ExAC TOPMed gnomAD
rs766542727 CA7267373	5	G>V		No	ClinGen ExAC gnomAD
CA390382012 rs1338335115	5	G>W		No	ClinGen gnomAD
rs750455087 CA7267371	6	P>S		No	ClinGen ExAC TOPMed
CA7267369 rs774159545	7	A>S		No	ClinGen ExAC TOPMed gnomAD
rs774159545 CA7267368	7	A>T		No	ClinGen ExAC TOPMed gnomAD
CA7267367 rs763842574	7	A>V		No	ClinGen ExAC TOPMed gnomAD
CA263578203 rs147329563	8	P>L		No	ClinGen ESP TOPMed
rs769411397 CA390381973	8	P>S		No	ClinGen ExAC TOPMed
rs769411397 CA7267364	8	P>T		No	ClinGen ExAC TOPMed
rs1459568902 CA390381962	9	G>*		No	ClinGen gnomAD
CA390381958 rs1295404952	9	G>A		No	ClinGen TOPMed
rs369036706 CA263578202	10	A>S		No	ClinGen ESP TOPMed gnomAD
rs1429449100 CA390381926	12	A>G		No	ClinGen TOPMed gnomAD
CA390381924 rs1429449100	12	A>V		No	ClinGen TOPMed gnomAD
rs1330467541 CA390381508	13	R>S		No	ClinGen gnomAD
rs997618891 CA390381501	14	P>L		No	ClinGen TOPMed gnomAD
CA263576861 rs997618891	14	P>R		No	ClinGen TOPMed gnomAD
CA263576865 rs972140495	14	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1214695760 CA390381497	15	R>W		No	ClinGen TOPMed
rs1372634525 CA390381446	19	Q>R		No	ClinGen gnomAD
TCGA novel	23	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs369446810 CA7267345	23	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs374981823 CA7267344	24	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA390381350 rs772998712	27	I>L		No	ClinGen ExAC gnomAD
CA7267342 rs772998712	27	I>V		No	ClinGen ExAC gnomAD
rs1249134767 CA390381322	29	K>R		No	ClinGen gnomAD
CA390381291 rs1485810086	31	L>F		No	ClinGen gnomAD
CA263576834 rs868854685	31	L>S		No	ClinGen gnomAD
rs1363852853 CA390381283	32	F>L		No	ClinGen TOPMed
rs780413091 CA7267339	35	W>*		No	ClinGen ExAC gnomAD
CA390381209 rs1344217621	36	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA390381190 rs1280127637	38	Q>K		No	ClinGen gnomAD
rs770231374 CA7267338	40	A>S		No	ClinGen ExAC gnomAD
TCGA novel rs1286567306 CA390381098	42	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen TOPMed gnomAD NCI-TCGA
rs746352661 CA7267337	42	M>K		No	ClinGen ExAC gnomAD
rs1595083140 CA390381108	42	M>V		No	ClinGen Ensembl
rs781295883 CA7267336	43	F>C		No	ClinGen ExAC gnomAD
rs751844212 CA7267335	44	L>P		No	ClinGen ExAC gnomAD
CA7267334 rs751844212	44	L>Q		No	ClinGen ExAC gnomAD
rs777975397 CA7267333	45	T>I		No	ClinGen ExAC gnomAD
CA263576812 rs139873029	46	L>F		No	ClinGen ESP ExAC gnomAD
CA7267332 rs139873029	46	L>V		No	ClinGen ESP ExAC gnomAD
CA390381001 rs1567007207	49	L>V		No	ClinGen Ensembl
rs1160616945 CA390380994	50	T>P		No	ClinGen TOPMed gnomAD
rs765050992 CA7267330	51	L>R		No	ClinGen ExAC gnomAD
rs759442959 CA7267329	52	L>P		No	ClinGen ExAC gnomAD
CA390380456 rs1355936993	57	I>T		No	ClinGen gnomAD
rs2301345 CA7267306	62	L>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7267304 rs756071347	64	P>T		No	ClinGen ExAC gnomAD
CA390380343 rs1345931271	66	Q>E		No	ClinGen gnomAD
rs1567001990 CA390380338	66	Q>R		No	ClinGen Ensembl
rs767019119 CA7267302	68	Y>C		No	ClinGen ExAC gnomAD
CA7267299 rs765584955	72	G>*		No	ClinGen ExAC
CA263576540 rs149514705	72	G>V		No	ClinGen ESP
CA390380241 rs1390409991	74	K>E		No	ClinGen gnomAD
rs1454222268 CA390380229	75	D>H		No	ClinGen TOPMed
rs776922749 CA7267297	76	L>S		No	ClinGen ExAC gnomAD
rs759897343 CA7267298	76	L>V		No	ClinGen ExAC gnomAD
CA390380202 rs1247317576	77	E>Q		No	ClinGen gnomAD
rs771449334 CA7267296	78	G>W		No	ClinGen ExAC TOPMed gnomAD
CA390380134 rs1489441496	82	L>V		No	ClinGen gnomAD
CA390380090 rs1192167382	85	L>R		No	ClinGen TOPMed gnomAD
CA7267292 rs772179984	86	A>P		No	ClinGen ExAC gnomAD
CA390380054 rs1251511155	88	M>R		No	ClinGen gnomAD
rs1231047017 CA390380037	89	L>R		No	ClinGen gnomAD
rs779202641 CA390380006	92	L>V		No	ClinGen ExAC gnomAD
CA7267289 rs755101479	93	N>S		No	ClinGen ExAC gnomAD
rs570985200 CA7267286	95	T>M		No	ClinGen ExAC gnomAD
COSM3815292 rs570985200 CA263576484	95	T>R	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs781196316 CA7267264	99	F>I		No	ClinGen ExAC gnomAD
rs781196316 CA390379859	99	F>L		No	ClinGen ExAC gnomAD
rs757086758 CA7267263	103	T>I		No	ClinGen ExAC TOPMed gnomAD
CA263575723 rs867559568	104	C>Y		No	ClinGen Ensembl
CA7267261 rs777107558	105	N>H		No	ClinGen ExAC TOPMed gnomAD
rs758095191 CA7267260	105	N>S		No	ClinGen ExAC gnomAD
CA7267257 COSM3936609 rs761029910	108	Y>C	oesophagus [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA390379783 rs768088632 CA390379782	109	V>L		No	ClinGen ExAC TOPMed gnomAD
rs768088632 CA7267255	109	V>M		No	ClinGen ExAC TOPMed gnomAD
CA263575697 rs757014631	110	S>N		No	ClinGen Ensembl
CA263575693 rs748969055	110	S>R		No	ClinGen Ensembl
rs1330451860 CA390379718	113	K>R		No	ClinGen TOPMed gnomAD
CA390379707 rs1595038477	114	D>A		No	ClinGen Ensembl
rs762183469 CA7267254	117	E>A		No	ClinGen ExAC gnomAD
CA390378914 rs1313056426	118	H>L		No	ClinGen gnomAD
CA390378924 rs371774856	118	H>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA390378918 rs1313056426	118	H>P		No	ClinGen gnomAD
CA390378898 rs1376650392	119	L>F		No	ClinGen gnomAD
rs201772581 CA263575678	120	H>P		No	ClinGen Ensembl
COSM369271 CA263575674 rs887149718	121	R>C	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
CA7267251 rs201744101 COSM1516146	121	R>H	lung upper_aerodigestive_tract Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA7267249 rs770077103	122	L>R		No	ClinGen ExAC gnomAD
CA390378830 rs1392993701	124	F>L		No	ClinGen TOPMed
rs780802823 CA7267247	125	R>W		No	ClinGen ExAC TOPMed gnomAD
CA390378779 rs1425810377	126	G>D		No	ClinGen gnomAD
CA7267245 rs746889528	127	R>C		No	ClinGen ExAC TOPMed gnomAD
rs138755259 CA7267244	127	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs944226571 CA263575658	128	A>S		No	ClinGen TOPMed
rs1174564923 CA390378671	130	Y>C		No	ClinGen gnomAD
CA390378686 rs1349388678	130	Y>H		No	ClinGen TOPMed gnomAD
rs1265630293 CA390378650	131	T>A		No	ClinGen gnomAD
CA390378639 rs1436816390	131	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA390378609 rs1246475286	133	N>D		No	ClinGen gnomAD
COSM3377458 rs750827619 CA7267239	133	N>S	pancreas [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs750827619 CA7267240	133	N>T		No	ClinGen ExAC TOPMed gnomAD
CA390378579 rs1435630055	134	V>M		No	ClinGen gnomAD
CA7267236 rs750891071	135	L>P		No	ClinGen ExAC gnomAD
CA7267233 rs775655143	136	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA390378478 rs1366939809	138	D>E		No	ClinGen gnomAD
CA263575645 rs978471810	138	D>N		No	ClinGen TOPMed gnomAD
rs1163332637 CA390378475	139	I>V		No	ClinGen gnomAD
CA7267231 rs759637495	140	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA7267229 rs770617878	142	P>A		No	ClinGen ExAC gnomAD
rs747033918 CA7267228	142	P>L		No	ClinGen ExAC gnomAD
rs747033918 CA390378373	142	P>R		No	ClinGen ExAC gnomAD
rs201586886 CA7267213	145	R>C		No	ClinGen ESP ExAC gnomAD
CA7267212 rs150967109	145	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs150967109 CA263575218	145	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA390378078 rs1595001713	146	I>T		No	ClinGen Ensembl
rs1272140621 CA390378053	148	Q>*		No	ClinGen gnomAD
CA7267211 rs760397870	149	D>G		No	ClinGen ExAC gnomAD
CA263575211 rs1025276567	150	V>A		No	ClinGen Ensembl
CA390378023 rs574925291	150	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs574925291 CA7267209	150	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA390378008 rs1343760755	151	E>G		No	ClinGen gnomAD
rs993853239 CA390378014	151	E>K		No	ClinGen TOPMed gnomAD
CA263575209 rs993853239	151	E>Q		No	ClinGen TOPMed gnomAD
CA390377988 rs1282760239	152	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA7267208 rs142556108	152	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs142556108 CA7267207	152	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1372651125 CA390377954	154	C>Y		No	ClinGen gnomAD
rs753297474 CA263575200	155	R>P		No	ClinGen Ensembl
rs373322009 CA7267206	155	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1230890093 CA390377905	157	L>V		No	ClinGen TOPMed
CA390377833 CA263575175 rs1016712108	160	M>I		No	ClinGen gnomAD
rs1055109654 CA263575187	160	M>V		No	ClinGen TOPMed
rs1351384521 CA390377829	161	A>T		No	ClinGen TOPMed
rs565015345 CA263575171	163	K>E		No	ClinGen Ensembl
TCGA novel	163	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs755736783 CA7267203	165	I>L		No	ClinGen ExAC TOPMed gnomAD
CA390377729 rs1213956319	165	I>M		No	ClinGen TOPMed
CA7267202 rs145669133	166	I>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1594999773 CA390377724	166	I>V		No	ClinGen Ensembl
rs778245157 CA7267201	167	S>Y		No	ClinGen ExAC gnomAD
CA16606874 rs1057523057	168	P>T		No	ClinGen Ensembl
rs765424411 CA7267198	169	F>L		No	ClinGen ExAC TOPMed gnomAD
CA7267197 rs199576160	171	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA390377632 rs199576160	171	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA263575140 rs902492781	172	V>G		No	ClinGen Ensembl
VAR_048134 rs34992370 CA7267195	172	V>I		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1229164167 CA390377600	173	Y>*		No	ClinGen gnomAD
rs188205145 CA7267194	173	Y>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs767273921 CA7267192	174	Y>C		No	ClinGen ExAC gnomAD
rs761792358 CA7267191	175	T>A		No	ClinGen ExAC TOPMed gnomAD
rs373119845 CA7267190	176	Y>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA390377499 rs1341408675	179	F>I		No	ClinGen gnomAD
CA390377249 rs1350780805	181	S>R		No	ClinGen TOPMed
rs769080564 CA7267155	182	T>A		No	ClinGen ExAC gnomAD
CA263574780 rs1033701777	182	T>I		No	ClinGen TOPMed
CA7267154 rs749777285	183	G>A		No	ClinGen ExAC gnomAD
rs749777285 CA390377210	183	G>V		No	ClinGen ExAC gnomAD
CA263574768 rs929054439	185	L>P		No	ClinGen TOPMed
CA390376573 rs1292355386	187	P>L		No	ClinGen gnomAD
rs1244204511 CA390376561	188	V>G		No	ClinGen gnomAD
rs781410457 CA7267151	191	F>L		No	ClinGen ExAC TOPMed gnomAD
rs1186487692 CA390376518	192	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1290834352 CA390376508	192	G>V		No	ClinGen TOPMed
rs757424227 CA7267149	193	Y>C		No	ClinGen ExAC gnomAD
CA263574743 rs1003768189	193	Y>D		No	ClinGen Ensembl
CA263574739 rs937667485	194	F>C		No	ClinGen TOPMed gnomAD
rs751345657 CA7267148	195	I>V		No	ClinGen ExAC gnomAD
CA390376438 rs1423645540	198	T>I		No	ClinGen gnomAD
CA7267146 rs147955909	199	V>M		No	ClinGen ESP ExAC gnomAD
rs367884199 CA7267144	202	K>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA7267143 rs759130291	202	K>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA390376359 rs1490254047	205	M>V		No	ClinGen TOPMed gnomAD
rs1275722778 CA390376338	206	G>A		No	ClinGen gnomAD
CA263574722 rs942318454	207	P>T		No	ClinGen Ensembl
rs200873635 CA263574715	208	I>V		No	ClinGen 1000Genomes
rs770737148 CA7267140	209	V>L		No	ClinGen ExAC TOPMed gnomAD
rs770737148 CA390376320	209	V>M		No	ClinGen ExAC TOPMed gnomAD
CA7267137 rs759821450	213	V>L		No	ClinGen ExAC gnomAD
CA390376281 rs1369048986	214	H>Q		No	ClinGen gnomAD
rs1280841182 CA390376276	215	Q>R		No	ClinGen TOPMed gnomAD
CA390376245 rs1350736597	219	E>D		No	ClinGen gnomAD
CA263574700 rs949266037	221	D>H		No	ClinGen TOPMed
rs769047468 CA7267136	222	F>L		No	ClinGen ExAC gnomAD
rs917863974 CA263574373	224	F>L		No	ClinGen TOPMed gnomAD
rs1262004302 CA390376191	225	K>N		No	ClinGen TOPMed gnomAD
rs1464985845 CA390376194	225	K>R		No	ClinGen gnomAD
CA390376179 rs1236371317	227	M>L		No	ClinGen gnomAD
CA7267109 rs747261558	229	I>F		No	ClinGen ExAC gnomAD
rs1313077247 CA390376159	229	I>M		No	ClinGen gnomAD
CA390376157 rs1380464071	230	R>Q		No	ClinGen TOPMed gnomAD
CA7267108 rs778062723 COSM957744	230	R>W	large_intestine endometrium Variant assessed as Somatic; 0.0002772 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA263574353 rs933330436	231	V>L		No	ClinGen TOPMed
CA390376148 rs1389409249	232	N>D		No	ClinGen gnomAD
rs1290729768 CA390376136 COSM195951	233	A>V	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs1363510536 CA390376125	235	P>S		No	ClinGen gnomAD
rs748006460 CA7267105	240	R>G		No	ClinGen ExAC gnomAD
rs1399230088 CA390384900	242	G>R		No	ClinGen gnomAD
TCGA novel	246	H>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA390384810 rs1291970178	247	M>I		No	ClinGen TOPMed
CA390384823 rs377396654 CA263585331	247	M>L		No	ClinGen ESP gnomAD
rs772030272 CA7267071	250	D>N		No	ClinGen ExAC gnomAD
rs139315421 CA390384745 COSM238643	251	R>L	prostate [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA7267068 rs768938280	252	R>G		No	ClinGen ExAC gnomAD
CA390384724 rs149632647	252	R>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7267066 rs779676647 COSM1193198	254	Q>R	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1418713104 CA390384693	255	R>G		No	ClinGen gnomAD
rs11553974 CA263585311	255	R>I		No	ClinGen Ensembl
CA390384677 rs1395499792	256	L>H		No	ClinGen gnomAD
CA390384681 rs1359500968	256	L>V		No	ClinGen TOPMed
TCGA novel	257	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA263585307 rs1028566673	257	L>V		No	ClinGen TOPMed gnomAD
CA7267064 rs745774080	258	Q>*		No	ClinGen ExAC gnomAD
rs751006542 CA7267061	261	R>M		No	ClinGen ExAC gnomAD
rs751006542 CA7267062	261	R>T		No	ClinGen ExAC gnomAD
rs1337855053 CA390384600	262	E>K		No	ClinGen gnomAD
CA263585275 rs904522797	264	M>I		No	ClinGen TOPMed
CA7267060 rs535572766	265	S>P		No	ClinGen 1000Genomes ExAC gnomAD
rs758005151 CA7267059	268	L>F		No	ClinGen ExAC gnomAD
rs1467823749 CA390384504	269	W>R		No	ClinGen gnomAD
CA7267058 rs754239255	272	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1382699064 CA390384290	273	G>D		No	ClinGen gnomAD
CA7267036 rs767929749	273	G>S		No	ClinGen ExAC TOPMed gnomAD
CA390384203 rs1566957364	276	T>I		No	ClinGen Ensembl
CA390384190 rs1270264656	277	F>V		No	ClinGen gnomAD
rs934475392 CA263584958	279	Y>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA390384119 rs1232505453	282	S>G		No	ClinGen TOPMed gnomAD
rs763327946 CA7267032	287	V>A		No	ClinGen ExAC gnomAD
rs1161449440 CA390383980	289	I>V		No	ClinGen TOPMed gnomAD
rs374016830 CA7267027	290	A>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7267028 rs143178653	290	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA7267026 rs746925493	291	I>V		No	ClinGen ExAC gnomAD
TCGA novel	294	F>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA390383863 rs1566956665	295	S>C		No	ClinGen Ensembl
rs1035702763 CA263584905	296	G>R		No	ClinGen TOPMed
CA390383816 rs1490577771	297	V>F		No	ClinGen TOPMed gnomAD
rs369828476 CA7267024	298	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs747624142 CA7267023	300	D>N		No	ClinGen ExAC gnomAD
rs1405106858 CA390383679	304	A>G		No	ClinGen gnomAD
rs757891102 CA390383642	305	E>D		No	ClinGen ExAC gnomAD
rs752102877 CA7267017	306	L>R		No	ClinGen ExAC gnomAD
CA263584846 rs1053869247	312	K>M		No	ClinGen TOPMed
rs1408164848 CA390383503	312	K>N		No	ClinGen gnomAD
CA263584736 rs1040016783	314	A>G		No	ClinGen TOPMed gnomAD
TCGA novel	315	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs750165865 CA7266990	316	V>G		No	ClinGen ExAC gnomAD
CA390383389 rs1163684237	316	V>L		No	ClinGen TOPMed
rs201777056 CA263584728	319	Y>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA7266988 rs201276376	320	L>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7266989 rs201276376	320	L>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA390383294 rs1462239474	321	I>M		No	ClinGen gnomAD
rs1051492487 CA263584712	321	I>T		No	ClinGen Ensembl
rs762583591 CA7266986	327	L>V		No	ClinGen ExAC TOPMed gnomAD
rs202052121 CA7266983	328	I>M		No	ClinGen 1000Genomes ExAC gnomAD
rs1308869668 CA390383167	328	I>V		No	ClinGen gnomAD
rs748672970 CA7266980	329	D>E		No	ClinGen ExAC gnomAD
rs772497279 CA7266981	329	D>G		No	ClinGen ExAC TOPMed gnomAD
rs778245156 COSM3420030 CA7266982	329	D>N	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA7266979 rs150323689	330	L>V		No	ClinGen ESP ExAC
CA263584695 rs1035378853	331	S>Y		No	ClinGen TOPMed
CA7266976 rs780272622	332	T>M		No	ClinGen ExAC TOPMed gnomAD
CA390383100 rs780272622	332	T>R		No	ClinGen ExAC TOPMed gnomAD
CA7266977 rs753856088	332	T>S		No	ClinGen ExAC gnomAD
CA7266973 rs181943870	333	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA390383056 rs1380113815	335	S>L		No	ClinGen TOPMed gnomAD
CA390383020 rs1184703662	338	A>S		No	ClinGen gnomAD
rs1236230153 CA390383013	338	A>V		No	ClinGen TOPMed
CA7266972 rs150411078	341	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs367709858 CA263584665	342	H>Q		No	ClinGen Ensembl
rs1297838804 CA390382863	343	R>S		No	ClinGen gnomAD
rs1380682384 CA390382829	345	G>V		No	ClinGen TOPMed gnomAD
CA390382800 rs1487728788	347	L>P		No	ClinGen TOPMed
TCGA novel	352	L>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7266944 rs774535849	354	M>V		No	ClinGen ExAC TOPMed gnomAD
rs928586027 CA263584488	358	S>L		No	ClinGen TOPMed gnomAD
CA390382665 rs1477283883	359	Q>*		No	ClinGen gnomAD
CA390382663 rs1368649815	359	Q>P		No	ClinGen TOPMed
rs1387082310 CA390382655	360	D>N		No	ClinGen TOPMed
CA7266940 rs760532916	361	C>*		No	ClinGen ExAC TOPMed
rs775602421 CA7266941 RCV000441980	362	E>K		No	ClinGen ClinVar ExAC dbSNP gnomAD
CA7266936 rs771010169	366	E>K		No	ClinGen ExAC TOPMed gnomAD
CA7266935 rs746853496	367	S>C		No	ClinGen ExAC TOPMed gnomAD
CA390382565 rs746853496	367	S>G		No	ClinGen ExAC TOPMed gnomAD
CA7266934 rs777400331	367	S>N		No	ClinGen ExAC gnomAD
CA7266931 rs778925985	372	D>N		No	ClinGen ExAC gnomAD
CA7266930 rs375098533	373	T>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
rs375098533 CA7266929	373	T>K		No	ClinGen ESP ExAC gnomAD
rs1243757290 CA390381770	375	P>A		No	ClinGen gnomAD
CA263583443 rs941046002	375	P>L		No	ClinGen TOPMed gnomAD
rs1243757290 CA390381769	375	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA7266900 rs770903927	378	P>L		No	ClinGen ExAC gnomAD
rs149139488 CA390381742	379	A>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	380	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1284340000 CA390381733	381	E>Q		No	ClinGen gnomAD
CA390381715 rs1218693756	383	A>V		No	ClinGen gnomAD
rs1307197367 CA390381711	384	D>G		No	ClinGen TOPMed
rs1384266007 CA390381701	385	T>I		No	ClinGen gnomAD
rs1445230902 CA390381694	387	F>L		No	ClinGen gnomAD
rs772370453 CA7266896	388	L>R		No	ClinGen ExAC gnomAD
CA7266895 rs747987460	391	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1318529059 CA390381666 COSM1678129	391	R>W	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA263583412 rs868292947	394	I>V		No	ClinGen Ensembl
rs1425219480 CA390381632	397	P>A		No	ClinGen TOPMed gnomAD
CA390381630 rs749168282	397	P>H		No	ClinGen ExAC TOPMed gnomAD
CA7266892 rs749168282	397	P>R		No	ClinGen ExAC TOPMed gnomAD
rs1425219480 CA390381633	397	P>T		No	ClinGen TOPMed gnomAD
CA7266891 rs779680204	398	S>F		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	398	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	398	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1185462664 CA390381627	398	S>P		No	ClinGen gnomAD
CA263583395 rs988025549	399	S>F		No	ClinGen TOPMed
rs745327264 CA7266889	400	D>G		No	ClinGen ExAC gnomAD
CA7266888 rs780846726	402	P>T		No	ClinGen ExAC gnomAD
CA390381587 rs1227142144	404	I>M		No	ClinGen gnomAD
rs753105481 CA7266886	404	I>T		No	ClinGen ExAC gnomAD
CA7266885 rs765567501	405	K>E		No	ClinGen ExAC gnomAD
CA7266884 rs755569781	406	D>N		No	ClinGen ExAC gnomAD
rs1432376421 CA390381563	408	S>N		No	ClinGen TOPMed gnomAD
CA390381515 rs1373028270	415	Q>*		No	ClinGen gnomAD
CA7266880 rs773381798	416	S>I		No	ClinGen ExAC gnomAD
rs372941783 CA7266878	418	L>I		No	ClinGen ESP ExAC
rs1026011443 CA263583362	421	G>S		No	ClinGen TOPMed
CA263583359 rs993168511	424	G>S		No	ClinGen TOPMed
CA7266875 rs768330414	425	T>I		No	ClinGen ExAC gnomAD
rs1566938680 CA390381367 RCV000722855	426	G>C		No	ClinGen ClinVar Ensembl dbSNP
CA263583358 rs945270666	428	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs1490605424 CA390381327	429	S>A		No	ClinGen gnomAD
CA7266874 rs749042883	430	L>F		No	ClinGen ExAC TOPMed gnomAD
rs1309815343 CA390381260	431	L>P		No	ClinGen TOPMed
rs201691861 CA7266872	432	R>W		No	ClinGen ExAC TOPMed gnomAD
rs780650462 CA7266870	433	V>I		No	ClinGen ExAC gnomAD
CA390381195 rs746653976	435	G>C		No	ClinGen ExAC TOPMed gnomAD
rs746653976 CA7266868	435	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1277224662 CA390381187	435	G>V		No	ClinGen gnomAD
CA390381163 rs1475381893	437	L>I		No	ClinGen TOPMed
CA7266865 rs200761248	439	T>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1355097730 CA390381087	440	S>N		No	ClinGen gnomAD
rs1329593407 CA390381073	441	T>A		No	ClinGen gnomAD
CA263583328 rs905092359 COSM1371046	441	T>I	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs1329593407 CA390381076	441	T>P		No	ClinGen gnomAD
CA263583317 rs199986349	442	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs767691217 CA7266861	442	R>W		No	ClinGen ExAC gnomAD
CA390381036 rs1189910894	443	G>S		No	ClinGen gnomAD
CA7266838 rs765071443	445	V>A		No	ClinGen ExAC gnomAD
CA7266839 rs752485114	445	V>M		No	ClinGen ExAC TOPMed gnomAD
CA390380876 rs1465743025	448	L>P		No	ClinGen TOPMed gnomAD
CA390380874 rs1465743025	448	L>Q		No	ClinGen TOPMed gnomAD
CA390380880 rs1002264971	448	L>V		No	ClinGen TOPMed
rs969369250 CA390380864	449	T>K		No	ClinGen TOPMed gnomAD
CA390380845 rs1343903389	450	D>E		No	ClinGen TOPMed
CA263583169 rs375768769	450	D>G		No	ClinGen ESP TOPMed gnomAD
CA390380812 rs1418392751	453	P>S		No	ClinGen gnomAD
rs776556552 CA390380797	454	H>P		No	ClinGen ExAC gnomAD
rs1163630881 CA390380791	454	H>Q		No	ClinGen gnomAD
rs776556552 CA7266835	454	H>R		No	ClinGen ExAC gnomAD
CA7266834 rs770803284	455	G>E		No	ClinGen ExAC TOPMed gnomAD
rs1049484995 CA263583161	455	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA390380767 rs1594860425	456	V>G		No	ClinGen Ensembl
rs1438815689 CA390380774	456	V>L		No	ClinGen TOPMed
rs1214257368 CA390380747	458	F>L		No	ClinGen gnomAD
CA7266828 rs77210030	458	F>S		No	ClinGen ExAC gnomAD
rs900948033 CA263583132	463	P>A		No	ClinGen TOPMed gnomAD
CA390380675 rs1246940870	463	P>L		No	ClinGen TOPMed gnomAD
CA263583129 rs900948033	463	P>S		No	ClinGen TOPMed gnomAD
CA263583124 rs746174215	464	F>L		No	ClinGen ExAC gnomAD
rs1323529254 CA390380672	464	F>L		No	ClinGen gnomAD
rs1362988578 CA390380646	465	F>C		No	ClinGen TOPMed gnomAD
rs781770643 CA7266825	467	D>V		No	ClinGen ExAC
rs751632271 CA7266823	468	G>E		No	ClinGen ExAC gnomAD
rs777887478 CA7266822	470	L>V		No	ClinGen ExAC gnomAD
rs752962324 CA7266820	471	R>Q		No	ClinGen ExAC TOPMed gnomAD
COSM459111 CA390380610 rs1425390688	472	E>K	cervix Variant assessed as Somatic; 4.619e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA390379784 rs1486560641	474	V>L		No	ClinGen gnomAD
rs1441467664 CA390379754	475	I>T		No	ClinGen TOPMed gnomAD
CA390379711 rs762672388	477	P>A		No	ClinGen ExAC TOPMed gnomAD
rs762672388 CA7266788	477	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA263582793 rs947818930	480	E>D		No	ClinGen TOPMed
rs1279658942 CA390379639	481	V>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA7266787 rs777193953	482	Y>C		No	ClinGen ExAC gnomAD
rs777193953 CA390379623	482	Y>S		No	ClinGen ExAC gnomAD
CA7266786 rs771421891	483	P>A		No	ClinGen ExAC gnomAD
rs374372200 CA390379603	484	D>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs374372200 CA7266784	484	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	484	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1594846251 CA390379579	485	S>L		No	ClinGen Ensembl
rs1315448287 CA390379486	486	G>V		No	ClinGen TOPMed
CA390379478 rs1322348601	487	S>F		No	ClinGen TOPMed
rs572155878 CA7266764	489	D>E		No	ClinGen 1000Genomes ExAC gnomAD
CA7266763 rs768726077	490	D>N		No	ClinGen ExAC gnomAD
TCGA novel	492	R>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA390379405 rs370984701	492	R>S		No	ClinGen ESP TOPMed gnomAD
CA7266762 rs749308023	493	I>T		No	ClinGen ExAC TOPMed gnomAD
CA390379388 rs1489446896	494	L>S		No	ClinGen gnomAD
CA7266761 rs780274763	495	R>S		No	ClinGen ExAC gnomAD
rs866254045 CA263582385	497	L>*		No	ClinGen Ensembl
rs1302617666 CA390379330	498	E>G		No	ClinGen gnomAD
CA390379323 rs561519173	499	L>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs150594251 CA7266759	500	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA390379227 rs1374809313	503	S>C		No	ClinGen TOPMed gnomAD
CA390379229 rs1374809313	503	S>Y		No	ClinGen TOPMed gnomAD
CA263582127 rs983311973	506	V>L		No	ClinGen Ensembl
CA7266723 rs140293127	507	A>E		No	ClinGen 1000Genomes ExAC gnomAD
rs562180563 CA7266724	507	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7266722 rs776735025	508	R>S		No	ClinGen ExAC TOPMed gnomAD
CA7266721 rs752015330	510	E>G		No	ClinGen ExAC TOPMed gnomAD
rs1161004191 CA390379136	510	E>Q		No	ClinGen gnomAD
CA390379107 rs1182013687	511	G>A		No	ClinGen TOPMed gnomAD
CA390379104 rs1182013687	511	G>V		No	ClinGen TOPMed gnomAD
CA390379047 rs778839642	514	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs748091725 CA7266717	514	Q>K		No	ClinGen ExAC
rs541615622 CA7266715	515	Q>*		No	ClinGen 1000Genomes ExAC gnomAD
CA7266714 rs144462424	515	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA390379029 rs1398971251	516	V>A		No	ClinGen TOPMed gnomAD
CA390379034 rs755730309	516	V>L		No	ClinGen ExAC gnomAD
CA7266712 rs755730309	516	V>M		No	ClinGen ExAC gnomAD
CA263582084 rs1019006078	518	W>C		No	ClinGen TOPMed gnomAD
CA390378970 rs1594815838	519	N>S		No	ClinGen Ensembl
TCGA novel	520	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7266687 rs200395991	523	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA263581901 rs200395991	523	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA390378726 rs1211677735	524	L>M		No	ClinGen gnomAD
rs766559667 CA7266686	524	L>R		No	ClinGen ExAC gnomAD
rs1192871591 CA390378680	525	S>C		No	ClinGen gnomAD
rs1192871591 CA390378677	525	S>F		No	ClinGen gnomAD
rs1354516178 CA390378706	525	S>T		No	ClinGen gnomAD
CA7266685 rs534596852	526	P>L		No	ClinGen ExAC TOPMed gnomAD
CA263581895 rs534596852	526	P>R		No	ClinGen ExAC TOPMed gnomAD
CA390378622 rs1319172140	528	E>K		No	ClinGen gnomAD
rs767795583 CA7266682	530	Q>*		No	ClinGen ExAC gnomAD
rs142696207 CA7266681	530	Q>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7266679 rs371160919	531	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA390378521 rs1326238748	531	R>W		No	ClinGen TOPMed gnomAD
CA390378496 rs1372300303	532	L>P		No	ClinGen TOPMed gnomAD
CA390378472 rs1364802138	533	S>F		No	ClinGen gnomAD
rs1314909203 CA390378433	535	A>V		No	ClinGen TOPMed
rs769298254 COSM1283188 CA7266676	536	R>*	autonomic_ganglia [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA7266675 rs745326222	536	R>P		No	ClinGen ExAC TOPMed gnomAD
CA390378414 rs745326222	536	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs780846855 CA7266674	537	L>F		No	ClinGen ExAC gnomAD
CA390378374 rs1313209765	538	F>L		No	ClinGen TOPMed
CA390378324 rs1207073453	540	L>P		No	ClinGen TOPMed
rs1387935961 CA390378331	540	L>V		No	ClinGen TOPMed gnomAD
RCV001092314 rs2080235685	541	Q>E		No	ClinVar dbSNP
rs1378000286 CA390378284	542	P>A		No	ClinGen gnomAD
rs1178058556 CA390378272	542	P>L		No	ClinGen gnomAD
CA7266672 rs748504178	543	K>R		No	ClinGen ExAC gnomAD
rs754370477 CA7266670	545	A>S		No	ClinGen ExAC TOPMed gnomAD
rs754370477 CA7266669	545	A>T		No	ClinGen ExAC TOPMed gnomAD
rs760042136 CA7266638	546	V>G		No	ClinGen ExAC gnomAD
rs1566910578 CA390377301	552	S>N		No	ClinGen Ensembl
rs753387257 CA7266636	554	L>R		No	ClinGen ExAC
rs1202234108 CA390377221	555	T>R		No	ClinGen TOPMed
rs771582334 CA7266635	556	E>G		No	ClinGen ExAC
COSM1196806 rs747712420 CA7266634	557	E>K	lung [Cosmic]	No	ClinGen cosmic curated ExAC
rs770481609 CA7266631	561	E>K		No	ClinGen ExAC TOPMed gnomAD
CA7266630 COSM296442 rs746372602	562	L>F	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs781486459 CA7266629	562	L>H		No	ClinGen ExAC TOPMed gnomAD
rs145853977 CA7266627	563	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs1384056166 CA390377077	563	Y>H		No	ClinGen TOPMed
CA7266626 rs778089332	564	R>C		No	ClinGen ExAC TOPMed gnomAD
CA390377041 rs752539651	565	I>M		No	ClinGen ExAC TOPMed gnomAD
rs758591209 CA7266625	565	I>V		No	ClinGen ExAC gnomAD
CA390377037 COSM88496 rs1222404302	566	G>S	ovary [Cosmic]	No	ClinGen cosmic curated TOPMed
CA263581026 rs141766346	568	Q>H		No	ClinGen ESP gnomAD
CA263581025 rs938771170	570	G>R		No	ClinGen Ensembl
rs1566909565 RCV000722804	571	M>missing		No	ClinVar dbSNP
rs754978655 CA7266622	571	M>T		No	ClinGen ExAC TOPMed gnomAD
rs1401753431 CA390376914	572	T>M		No	ClinGen gnomAD
rs951532015 CA263581006	574	I>V		No	ClinGen gnomAD
CA390376860 rs1400153858	575	S>G		No	ClinGen gnomAD
CA7266620 rs566459052 COSM1678128	577	G>E	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC gnomAD
rs1391575537 CA390376830	577	G>R		No	ClinGen gnomAD
rs150273861 CA7266619	578	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	579	R>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs780481912 CA7266618	579	R>W	Variant assessed as Somatic; 0.0002322 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1480421174 CA390376764	580	Q>H		No	ClinGen TOPMed
rs770287341 CA7266614	581	S>R		No	ClinGen ExAC TOPMed gnomAD
rs1193126092 CA390376729	582	L>V		No	ClinGen gnomAD
CA390376695 rs1566908858	583	E>D		No	ClinGen Ensembl
TCGA novel	585	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7266578 rs371791289	586	H>D		No	ClinGen ESP ExAC gnomAD
CA7266577 rs763880299	587	S>A		No	ClinGen ExAC gnomAD
rs544131731 CA7266576	587	S>C		No	ClinGen 1000Genomes ExAC gnomAD
CA7266575 rs754288783	589	V>I		No	ClinGen ExAC gnomAD
rs766650989 CA7266574	591	K>Q		No	ClinGen ExAC gnomAD
CA390376568 rs1203870089	591	K>R		No	ClinGen TOPMed
RCV002222616 RCV000723222 rs1566906720	593	C>missing		No	ClinVar dbSNP
rs575071154 CA7266571	597	R>I		No	ClinGen 1000Genomes ExAC gnomAD
rs575071154 CA390376486	597	R>T		No	ClinGen 1000Genomes ExAC gnomAD
CA390376432 rs1182105057	601	M>K		No	ClinGen TOPMed gnomAD
CA390376429 rs1182105057	601	M>R		No	ClinGen TOPMed gnomAD
rs1476031630 CA390376416	602	R>K		No	ClinGen gnomAD
rs1476031630 CA390376414	602	R>T		No	ClinGen gnomAD
CA390376395 rs1401359898	603	I>M		No	ClinGen TOPMed gnomAD
CA390376391 rs1255141380	604	K>E		No	ClinGen gnomAD
rs772523388 CA7266569	605	V>A		No	ClinGen ExAC TOPMed gnomAD

1 associated diseases with O14678

[MIM: 614857]: Methylmalonic aciduria and homocystinuria type cblJ (MAHCJ)

A disorder of cobalamin metabolism characterized by decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl). Clinical features include feeding difficulties, poor growth, hypotonia, lethargy, anemia, and developmental delay. {ECO:0000269|PubMed:22922874, ECO:0000269|PubMed:23141461, ECO:0000269|PubMed:28572511, ECO:0000269|PubMed:31467407, ECO:0000269|PubMed:33845046}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

A disorder of cobalamin metabolism characterized by decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl). Clinical features include feeding difficulties, poor growth, hypotonia, lethargy, anemia, and developmental delay. {ECO:0000269|PubMed:22922874, ECO:0000269|PubMed:23141461, ECO:0000269|PubMed:28572511, ECO:0000269|PubMed:31467407, ECO:0000269|PubMed:33845046}. Note=The disease is caused by variants affecting the gene represented in this entry.

4 regional properties for O14678

Type	Name	Position	InterPro Accession
domain	ABC transporter-like, ATP-binding domain	389 - 603	IPR003439
domain	AAA+ ATPase domain	413 - 604	IPR003593
domain	ABC transporter type 1, transmembrane domain	27 - 311	IPR011527
conserved_site	ABC transporter-like, conserved site	524 - 538	IPR017871

Functions

		Description
EC Number	7.6.2.8	Linked to the hydrolysis of a nucleoside triphosphate
Subcellular Localization	Endoplasmic reticulum membrane ; Multi-pass membrane protein Lysosome membrane ; Multi-pass membrane protein	Targeted by LMBRD1 lysosomal chaperone to the lysosomal membrane
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

6 GO annotations of cellular component

Name	Definition
ATP-binding cassette (ABC) transporter complex	A complex for the transport of metabolites into and out of the cell, typically comprised of four domains; two membrane-associated domains and two ATP-binding domains at the intracellular face of the membrane, that form a central pore through the plasma membrane. Each of the four core domains may be encoded as a separate polypeptide or the domains can be fused in any one of a number of ways into multidomain polypeptides. In Bacteria and Archaebacteria, ABC transporters also include substrate binding proteins to bind substrate external to the cytoplasm and deliver it to the transporter.
endoplasmic reticulum membrane	The lipid bilayer surrounding the endoplasmic reticulum.
integral component of membrane	The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.
lysosomal membrane	The lipid bilayer surrounding the lysosome and separating its contents from the cell cytoplasm.
peroxisomal membrane	The lipid bilayer surrounding a peroxisome.
peroxisome	A small organelle enclosed by a single membrane, and found in most eukaryotic cells. Contains peroxidases and other enzymes involved in a variety of metabolic processes including free radical detoxification, lipid catabolism and biosynthesis, and hydrogen peroxide metabolism.

5 GO annotations of molecular function

Name	Definition
ABC-type vitamin B12 transporter activity	Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: vitamin B12(out) + ATP + H2O = ADP + an vitamin B12(in) + H+ + phosphate. Vitamin B12 is alkylcob(III)alamin.
ATP binding	Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
ATPase-coupled transmembrane transporter activity	Primary active transporter of a solute across a membrane, via the reaction: ATP + H2O = ADP + phosphate, to directly drive the transport of a substance across a membrane. The transport protein may be transiently phosphorylated (P-type transporters), or not (ABC-type transporters and other families of transporters). Primary active transport occurs up the solute's concentration gradient and is driven by a primary energy source.
identical protein binding	Binding to an identical protein or proteins.
long-chain fatty acid transporter activity	Enables the transfer of long-chain fatty acids from one side of a membrane to the other. A long-chain fatty acid is a fatty acid with a chain length between C13 and C22.

8 GO annotations of biological process

Name	Definition
cellular response to leukemia inhibitory factor	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 leukemia inhibitory factor stimulus.
cobalamin metabolic process	The chemical reactions and pathways involving cobalamin (vitamin B12), a water-soluble vitamin characterized by possession of a corrin nucleus containing a cobalt atom.
cobalamin transport	The directed movement of cobalamin (vitamin B12), a water-soluble vitamin characterized by possession of a corrin nucleus containing a cobalt atom, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.
fatty acid beta-oxidation	A fatty acid oxidation process that results in the complete oxidation of a long-chain fatty acid. Fatty acid beta-oxidation begins with the addition of coenzyme A to a fatty acid, and occurs by successive cycles of reactions during each of which the fatty acid is shortened by a two-carbon fragment removed as acetyl coenzyme A; the cycle continues until only two or three carbons remain (as acetyl-CoA or propionyl-CoA respectively).
long-chain fatty acid import into peroxisome	The directed movement of long-chain fatty acids into a peroxisome. A long-chain fatty acid is a fatty acid with a chain length between C13 and C22.
peroxisome organization	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a peroxisome. A peroxisome is a small, membrane-bounded organelle that uses dioxygen (O2) to oxidize organic molecules.
transmembrane transport	The process in which a solute is transported across a lipid bilayer, from one side of a membrane to the other.
very long-chain fatty acid catabolic process	The chemical reactions and pathways resulting in the breakdown of a fatty acid which has a chain length greater than C22.

8 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P31826	yddA	Inner membrane ABC transporter ATP-binding protein YddA	Escherichia coli (strain K12)	PR
P33897	ABCD1	ATP-binding cassette sub-family D member 1	Homo sapiens (Human)	PR
Q9UBJ2	ABCD2	ATP-binding cassette sub-family D member 2	Homo sapiens (Human)	PR
P28288	ABCD3	ATP-binding cassette sub-family D member 3	Homo sapiens (Human)	PR
O89016	Abcd4	Lysosomal cobalamin transporter ABCD4	Mus musculus (Mouse)	PR
P55096	Abcd3	ATP-binding cassette sub-family D member 3	Mus musculus (Mouse)	PR
P48410	Abcd1	ATP-binding cassette sub-family D member 1	Mus musculus (Mouse)	PR
P16970	Abcd3	ATP-binding cassette sub-family D member 3	Rattus norvegicus (Rat)	PR

10	20	30	40	50	60
MAVAGPAPGA	GARPRLDLQF	LQRFLQILKV	LFPSWSSQNA	LMFLTLLCLT	LLEQFVIYQV
70	80	90	100	110	120
GLIPSQYYGV	LGNKDLEGFK	TLTFLAVMLI	VLNSTLKSFD	QFTCNLLYVS	WRKDLTEHLH
130	140	150	160	170	180
RLYFRGRAYY	TLNVLRDDID	NPDQRISQDV	ERFCRQLSSM	ASKLIISPFT	LVYYTYQCFQ
190	200	210	220	230	240
STGWLGPVSI	FGYFILGTVV	NKTLMGPIVM	KLVHQEKLEG	DFRFKHMQIR	VNAEPAAFYR
250	260	270	280	290	300
AGHVEHMRTD	RRLQRLLQTQ	RELMSKELWL	YIGINTFDYL	GSILSYVVIA	IPIFSGVYGD
310	320	330	340	350	360
LSPAELSTLV	SKNAFVCIYL	ISCFTQLIDL	STTLSDVAGY	THRIGQLRET	LLDMSLKSQD
370	380	390	400	410	420
CEILGESEWG	LDTPPGWPAA	EPADTAFLLE	RVSISAPSSD	KPLIKDLSLK	ISEGQSLLIT
430	440	450	460	470	480
GNTGTGKTSL	LRVLGGLWTS	TRGSVQMLTD	FGPHGVLFLP	QKPFFTDGTL	REQVIYPLKE
490	500	510	520	530	540
VYPDSGSADD	ERILRFLELA	GLSNLVARTE	GLDQQVDWNW	YDVLSPGEMQ	RLSFARLFYL
550	560	570	580	590	600
QPKYAVLDEA	TSALTEEVES	ELYRIGQQLG	MTFISVGHRQ	SLEKFHSLVL	KLCGGGRWEL

MRIKVE