AiPD: Autoinhibited Protein Database

Q9H267

Gene name	VPS33B
Protein name	Vacuolar protein sorting-associated protein 33B
Names	hVPS33B
Species	Homo sapiens (Human)
KEGG Pathway	hsa:26276
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

182-251 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

182-251 (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

1 structures for Q9H267

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q9H267-F1	Predicted				AlphaFoldDB

502 variants for Q9H267

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA7745240 RCV001329688 rs748609085	15	F>S	Arthrogryposis, renal dysfunction, and cholestasis 1 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs121434385 VAR_018983 CA115407 RCV000002287	30	L>P	Arthrogryposis, renal dysfunction, and cholestasis 1 Variant assessed as Somatic; impact. Arthrogryposis, renal dysfunction, and cholestasis 1 (arcs1) ARCS1; effect on interaction with VIPAS39 is reported conflictingly but disrupts colocalization with VIPAS39 at cytoplasmic organelle; impairs localization to VIPAS39-containing endosomal compartment; and induces fragmentation of the VIPAS39-containing endosomal compartment; no effect on interaction with STX7 and association with the HOPS complex [ClinVar, NCI-TCGA, Ensembl, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl NCI-TCGA dbSNP
CA7745214 rs757313661 RCV003165773 RCV000326724	41	I>T	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA241742 RCV000175903 rs199874738 RCV000263050	45	L>I	Arthrogryposis, renal dysfunction, and cholestasis 1 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs202141764 CA241745 RCV000355972 RCV000175904	46	M>L	Arthrogryposis, renal dysfunction, and cholestasis 1 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA393861502 RCV000714694 rs11542638 RCV003147539	51	R>*	Arthrogryposis, renal dysfunction, and cholestasis 1 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1555459968 RCV001251001 RCV000627439	117	P>missing	Arthrogryposis, renal dysfunction, and cholestasis 1 [ClinVar]	Yes	ClinVar dbSNP
rs1373855924 VAR_087658 CA393858174	131	G>E	KDIDAR; disrupts vesicular trafficking of LH3 to intracellular collagen; does not affect interaction with VIPAS39; decreased interaction with RAB25 and RAB11A [UniProt]	Yes	ClinGen UniProt dbSNP gnomAD
RCV002535143 rs369726600 CA7745083 RCV000730139	135	D>N	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs139582205 RCV001117216 CA7745014	170	Q>K	Arthrogryposis, renal dysfunction, and cholestasis 1 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs1596358564 RCV000855447	187	Y>missing	Arthrogryposis, renal dysfunction, and cholestasis 1 [ClinVar]	Yes	ClinVar dbSNP
RCV001329689 rs770015890	191	P>R	Arthrogryposis, renal dysfunction, and cholestasis 1 [ClinVar]	Yes	ClinVar dbSNP
CA7744964 rs377754864 RCV001115785 RCV000598449	221	R>Q	Arthrogryposis, renal dysfunction, and cholestasis 1 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs760894269 RCV000350385 CA7744960	227	H>R	Arthrogryposis, renal dysfunction, and cholestasis 1 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
VAR_057901 rs139829189 CA7744932	243	S>F	ARCS1; no effect on interaction with VIPAS39; impairs localization to VIPAS39-containing endosomal compartment [UniProt]	Yes	ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD
RCV002536466 CA7744926 rs369458612 RCV000731536	256	R>C	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000622928 rs1442840881	278	L>missing	Inborn genetic diseases [ClinVar]	Yes	ClinVar dbSNP
CA7744879 RCV000293071 RCV002520979 rs750350100	290	R>W	Arthrogryposis, renal dysfunction, and cholestasis 1 Variant assessed as Somatic; 0.0 impact. Inborn genetic diseases [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
CA7744868 rs142949901 RCV001120712	306	R>W	Arthrogryposis, renal dysfunction, and cholestasis 1 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000389723 RCV002281084 CA7744843 rs201698361	314	R>H	Arthrogryposis, renal dysfunction, and cholestasis 1 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000333016 rs145303578 CA7744842 RCV000400617	315	R>Q	Arthrogryposis, renal dysfunction, and cholestasis 1 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs140237411 CA7744835 RCV002535172 RCV000730794	339	R>G	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs864622006 CA348821 RCV000204599	377	R>P	Arthrogryposis, renal dysfunction, and cholestasis 1 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV000372554 RCV001252830 CA7744773 rs149121639 RCV000899084 RCV000729557	383	I>T	Arthrogryposis, renal dysfunction, and cholestasis 1 Microcephaly [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000951324 RCV001120709 rs145070485 CA7744770	389	R>Q	Arthrogryposis, renal dysfunction, and cholestasis 1 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs778274271 RCV001120710 CA7744771	389	R>W	Arthrogryposis, renal dysfunction, and cholestasis 1 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA274751193 RCV000722793 rs943813904 RCV001118765	398	R>C	Arthrogryposis, renal dysfunction, and cholestasis 1 Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar NCI-TCGA TOPMed dbSNP
rs398122408 RCV000074447	421	Q>missing	Arthrogryposis, renal dysfunction, and cholestasis 1 [ClinVar]	Yes	ClinVar dbSNP
rs139709507 RCV001270571 RCV000265166 CA7744691 RCV000734911	425	S>N	Arthrogryposis, renal dysfunction, and cholestasis 1 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA115404 RCV002292453 COSM1375504 RCV000002286 rs121434384	438	R>*	Arthrogryposis, renal dysfunction, and cholestasis 1 Variant assessed as Somatic; 0.0 impact. large_intestine Arthrogryposis, renal dysfunction, and cholestasis 1 (arcs1) [ClinVar, NCI-TCGA, Cosmic, Ensembl]	Yes	ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs2040435581 RCV001252915	474	A>P	Microcephaly [ClinVar]	Yes	ClinVar dbSNP
CA7744614 RCV002524333 rs751858602 RCV000504086	500	E>*	Arthrogryposis, renal dysfunction, and cholestasis 1 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001118764 CA7744612 rs200539802 RCV002558174	501	Y>H	Arthrogryposis, renal dysfunction, and cholestasis 1 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
VAR_013828 rs11073964 RCV000253189 CA7744601 RCV000989400 RCV001709550	514	G>S	Arthrogryposis, renal dysfunction, and cholestasis 1 [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
VAR_087659	523	R>del	ARCS1 [UniProt]	Yes	UniProt
RCV000266429 CA7744577 rs758814929	531	R>W	Arthrogryposis, renal dysfunction, and cholestasis 1 Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD
rs121434383 RCV000002285 CA115401	532	R>*	Arthrogryposis, renal dysfunction, and cholestasis 1 Variant assessed as Somatic; impact. Arthrogryposis, renal dysfunction, and cholestasis 1 (arcs1) [ClinVar, NCI-TCGA, Ensembl]	Yes	ClinGen ClinVar Ensembl NCI-TCGA dbSNP
CA7744540 rs566630364 RCV000591538 RCV000765242	562	S>N	Arthrogryposis, renal dysfunction, and cholestasis 1 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD
rs2040379043 RCV001117129	573	L>F	Arthrogryposis, renal dysfunction, and cholestasis 1 [ClinVar]	Yes	ClinVar dbSNP
RCV002275163 RCV000855548 VAR_087660 rs1596348299 CA393884656	576	C>R	Cholestasis, progressive familial intrahepatic, 12 Arthrogryposis, renal dysfunction, and cholestasis 1 PFIC12; disrupts colocalization with VIPAS39 at cytoplasmic organelle; decreased protein expression [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
rs868354713 CA274808566 RCV001824173 RCV002275359 RCV001329687	594	R>G	Arthrogryposis, renal dysfunction, and cholestasis 1 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
rs1029244647 CA274765057	2	A>V		No	ClinGen TOPMed gnomAD
CA393864044 rs1432047676	5	H>Q		No	ClinGen gnomAD
CA7745245 rs770400835	5	H>R		No	ClinGen ExAC gnomAD
rs746491325 CA7745244	6	R>L		No	ClinGen ExAC gnomAD
rs1167676948 CA393864023	7	P>S		No	ClinGen gnomAD
rs772810626 CA7745243	8	D>G		No	ClinGen ExAC gnomAD
CA274765040 rs772730897	9	A>D		No	ClinGen ExAC TOPMed gnomAD
CA274765049 rs868601784	9	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs772730897 CA7745242	9	A>V		No	ClinGen ExAC TOPMed gnomAD
CA393863928 rs1207611724	14	D>H		No	ClinGen TOPMed gnomAD
CA393863898 rs748609085	15	F>Y		No	ClinGen ExAC TOPMed gnomAD
RCV000594014 rs1555461182 CA393863871	17	M>K		No	ClinGen ClinVar Ensembl dbSNP
rs1555461184 CA393863879	17	M>V		No	ClinGen Ensembl
CA393863828 rs1210213502 CA393863835	19	K>N		No	ClinGen gnomAD
CA393863786 rs1358390763	22	A>V		No	ClinGen gnomAD
CA393863781 rs1263540507	23	R>*	Arthrogryposis, renal dysfunction, and cholestasis 1 (arcs1) [Ensembl]	No	ClinGen gnomAD
rs866885595 CA274765026	23	R>L		No	ClinGen gnomAD
rs866885595 CA393863778	23	R>Q		No	ClinGen gnomAD
CA7745239 rs779152308	25	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs769061531 CA7745238	27	I>M		No	ClinGen ExAC TOPMed gnomAD
rs1407667104 CA393863728	27	I>V		No	ClinGen gnomAD
CA393863716 rs1406261261	28	Y>C		No	ClinGen TOPMed gnomAD
CA274765021 rs961063592	28	Y>H		No	ClinGen TOPMed gnomAD
CA393863706 rs1243854942	30	L>V		No	ClinGen TOPMed
CA7745218 rs201228119	33	L>F		No	ClinGen ExAC TOPMed gnomAD
CA393861842 rs1443012586 COSM1518264	35	G>E	lung [Cosmic]	No	ClinGen cosmic curated TOPMed
rs984101709 CA274761643	36	K>R		No	ClinGen Ensembl
rs756780467 CA7745217	37	K>N		No	ClinGen ExAC TOPMed gnomAD
rs764711006 CA274761636	37	K>Q		No	ClinGen TOPMed
CA7745216 rs746019764	38	D>E		No	ClinGen ExAC TOPMed gnomAD
CA7745215 rs781312336	41	I>L		No	ClinGen ExAC gnomAD
CA7745213 rs752622446	42	E>K		No	ClinGen ExAC gnomAD
CA274761603 rs993400937	43	A>G		No	ClinGen Ensembl
rs778882466 CA7745212	44	D>G		No	ClinGen ExAC gnomAD
COSM1478475 CA393861634 rs1366570031	44	D>H	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
RCV000413065 CA16043036 rs1057518553	45	L>IL		No	ClinGen ClinVar Ensembl dbSNP
rs199874738 CA7745211	45	L>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs202141764 CA7745210 COSM291190	46	M>V	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1467483185 CA393861575	47	S>C		No	ClinGen TOPMed
CA274761526 RCV000734937 rs376401320	51	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ClinVar ESP NCI-TCGA dbSNP gnomAD
rs761365545 CA7745207	52	I>L		No	ClinGen ExAC gnomAD
CA274761493 rs956838545	52	I>T		No	ClinGen TOPMed
rs773692944 CA7745206	54	N>S		No	ClinGen ExAC TOPMed gnomAD
rs775926154 CA7745203	55	V>G		No	ClinGen ExAC gnomAD
rs763310786 CA7745204	55	V>I		No	ClinGen ExAC gnomAD
rs776809796 CA7745200	59	K>N		No	ClinGen ExAC TOPMed gnomAD
CA393861219 rs556273911	61	H>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA393861217 rs1250285083	62	E>K		No	ClinGen TOPMed
CA7745173 rs780119774	63	V>A		No	ClinGen ExAC gnomAD
rs1456110092 CA393861204	64	D>N		No	ClinGen TOPMed
rs1159245762 CA393861179	67	Y>C		No	ClinGen gnomAD
CA7745172 rs756014517	68	K>E		No	ClinGen ExAC gnomAD
rs1596369882 CA393861163	69	V>G		No	ClinGen Ensembl
TCGA novel	70	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7745171 rs745678948	70	E>K		No	ClinGen ExAC gnomAD
rs537933042 CA7745170	71	N>K		No	ClinGen 1000Genomes ExAC gnomAD
rs1480482875 CA393861139	73	P>A		No	ClinGen TOPMed gnomAD
rs1480482875 CA393861140	73	P>T		No	ClinGen TOPMed gnomAD
rs1247835532 CA393861121	76	S>G		No	ClinGen gnomAD
CA393861110 rs1224491118	77	S>C		No	ClinGen gnomAD
rs376015173 CA274760731	78	N>S		No	ClinGen ESP TOPMed gnomAD
CA393861098 rs1189272413	79	E>A		No	ClinGen TOPMed
rs1229006812 CA393861100	79	E>K		No	ClinGen gnomAD
rs1064793614 RCV000481910	81	L>missing		No	ClinVar dbSNP
CA7745141 rs566391215	88	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA7745140 rs752228982	88	R>H		No	ClinGen ExAC gnomAD
CA7745142 rs566391215	88	R>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1259816290 CA393860765	89	I>S		No	ClinGen gnomAD
rs1430792049 CA393860767	89	I>V		No	ClinGen gnomAD
rs1016102815 CA274758550	91	N>S		No	ClinGen Ensembl
CA393860741 rs1257921681	92	M>I		No	ClinGen gnomAD
CA393860743 rs1483705678	92	M>T		No	ClinGen gnomAD
rs200543849 CA274758546	92	M>V		No	ClinGen Ensembl
CA7745138 rs368124813	93	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs754341541 CA393860736	93	R>L		No	ClinGen ExAC TOPMed gnomAD
rs754341541 CA7745137	93	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA7745136 rs766825262	95	I>V		No	ClinGen ExAC
CA393860719 rs1567227723	96	A>S		No	ClinGen Ensembl
CA7745118 rs377431744	97	S>N		No	ClinGen ESP ExAC gnomAD
rs140229088 CA7745117	97	S>R		No	ClinGen ExAC gnomAD
rs756606558 CA7745116	99	V>I		No	ClinGen ExAC gnomAD
CA393860107 rs1350729278	100	N>D		No	ClinGen gnomAD
rs750764857 RCV000596283 CA7745115	100	N>S		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs767855531 CA7745114	101	A>V		No	ClinGen ExAC gnomAD
CA7745113 rs762192325	102	D>N		No	ClinGen ExAC gnomAD
CA393859964 rs1468065328	106	G>D		No	ClinGen TOPMed
RCV002521490 CA393859958 rs1057519063	107	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ClinVar Ensembl NCI-TCGA dbSNP
rs199921354 CA7745111	107	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs763092006 CA7745110	108	T>A		No	ClinGen ExAC
TCGA novel	108	T>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1420175614 CA393859907	109	R>C		No	ClinGen gnomAD
CA7745109 rs775596810	109	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1252738106 CA393859859	111	Y>H		No	ClinGen gnomAD
CA393859858 rs1183750062	111	Y>S		No	ClinGen gnomAD
rs1435822158 CA393859810	112	K>N		No	ClinGen gnomAD
rs766247571 CA7745108	115	F>L		No	ClinGen ExAC TOPMed gnomAD
CA7745107 rs567180920	116	S>G		No	ClinGen 1000Genomes ExAC gnomAD
CA393858325 rs1326407913	121	Y>C		No	ClinGen TOPMed
rs758641088 CA7745093	122	A>V		No	ClinGen ExAC TOPMed gnomAD
rs373346945 CA7745091	124	E>K		No	ClinGen ESP ExAC gnomAD
CA7745090 rs760599896	127	L>F		No	ClinGen ExAC gnomAD
CA7745087 rs761565271	130	E>V		No	ClinGen ExAC gnomAD
CA7745086 rs768322543	133	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA7745085 rs768322543	133	Y>F		No	ClinGen ExAC TOPMed gnomAD
CA7745084 rs748901951	134	G>A		No	ClinGen ExAC
CA393857789 rs1210526441	135	D>E		No	ClinGen gnomAD
CA393857765 rs1187015165	137	S>N		No	ClinGen TOPMed
rs1427129302 CA393857634	141	W>*		No	ClinGen TOPMed
rs747451890 CA393857622	142	A>P		No	ClinGen ExAC TOPMed gnomAD
rs747451890 COSM1323758 CA7745061	142	A>S	ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA393857554 rs772473821 CA393857552	145	L>F		No	ClinGen ExAC TOPMed gnomAD
CA7745060 RCV001270516 rs778351669	145	L>S		No	ClinGen ClinVar ExAC dbSNP gnomAD
rs755115970 CA7745055	155	M>I		No	ClinGen ExAC TOPMed gnomAD
CA393857408 rs1356237616	155	M>R		No	ClinGen gnomAD
rs1442601430 CA393857412	155	M>V		No	ClinGen gnomAD
rs1409277471 CA393857396	157	L>V		No	ClinGen gnomAD
CA393857390 rs1567223730	158	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs368749853 CA7745054	160	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs551566095 CA7745053	160	F>Y		No	ClinGen 1000Genomes ExAC gnomAD
rs879255414 RCV000239205 CA10586022	161	F>L		No	ClinGen ClinVar Ensembl dbSNP
rs749558751 CA7745018	167	E>G		No	ClinGen ExAC
CA7745017 rs775655591	168	G>A		No	ClinGen ExAC gnomAD
CA393856128 rs1215666427	168	G>R		No	ClinGen gnomAD
rs745970394 CA7745015	169	D>E		No	ClinGen ExAC
rs769960396 CA7745016	169	D>Y		No	ClinGen ExAC gnomAD
rs139582205 CA393856097	170	Q>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs139582205 CA393856099	170	Q>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA393856092 rs1318948428	170	Q>R		No	ClinGen gnomAD
CA7745013 rs758360162	171	R>C		No	ClinGen ExAC TOPMed gnomAD
CA7745012 RCV000734576 rs748029830	171	R>H		No	ClinGen ClinVar ExAC dbSNP gnomAD
rs778827610 CA7745011	172	W>G		No	ClinGen ExAC gnomAD
rs1305488803 CA393856017	175	T>I		No	ClinGen TOPMed gnomAD
rs1305488803 CA393856021	175	T>S		No	ClinGen TOPMed gnomAD
rs753585993 CA7745009	181	H>D		No	ClinGen ExAC gnomAD
CA7745008 rs755782998	181	H>P		No	ClinGen ExAC gnomAD
CA7745007 rs755782998	181	H>R		No	ClinGen ExAC gnomAD
CA393855912 rs1455084513	182	L>P		No	ClinGen gnomAD
TCGA novel	183	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs766874578 CA7745006	184	S>G		No	ClinGen ExAC gnomAD
CA7745005 rs766874578	184	S>R		No	ClinGen ExAC gnomAD
rs762452344 CA7745004	185	T>I		No	ClinGen ExAC gnomAD
rs764478785 CA7745002	187	Y>C		No	ClinGen ExAC gnomAD
rs774695591 CA7745003	187	Y>H		No	ClinGen ExAC gnomAD
rs1048349074 CA274753513	189	P>L		No	ClinGen TOPMed
RCV000591856 rs763334651 CA7745001	189	P>S		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs775778438 CA393855787	191	P>A		No	ClinGen ExAC TOPMed gnomAD
CA7744999 rs770015890	191	P>L		No	ClinGen ExAC gnomAD
rs775778438 CA7745000	191	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1405787709 CA393855752	193	C>F		No	ClinGen TOPMed
rs751557234 CA274753498	193	C>G		No	ClinGen Ensembl
CA393855743 rs1214849944	194	Y>*		No	ClinGen gnomAD
rs200271574 CA7744998	194	Y>C		No	ClinGen 1000Genomes ExAC gnomAD
CA7744997 rs200271574	194	Y>S		No	ClinGen 1000Genomes ExAC gnomAD
CA7744996 rs770899857	197	G>D		No	ClinGen ExAC TOPMed gnomAD
CA274753467 rs1056559794	198	R>K		No	ClinGen TOPMed gnomAD
rs748167938 CA7744995	198	R>S		No	ClinGen ExAC TOPMed gnomAD
rs1370151830 CA393855673	199	C>F		No	ClinGen gnomAD
rs778685928 CA7744994	199	C>G		No	ClinGen ExAC gnomAD
rs60198611 CA274753434	199	C>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7744992 rs142610315	200	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1596358463 CA393855652	201	K>Q		No	ClinGen Ensembl
CA393855644 rs1287963397	201	K>R		No	ClinGen gnomAD
rs912949757 CA274753093	202	M>I		No	ClinGen TOPMed gnomAD
CA7744979 rs771084345	202	M>V		No	ClinGen ExAC gnomAD
CA393855361 rs1463961687	208	R>K		No	ClinGen gnomAD
CA274753045 rs768731695	210	L>V		No	ClinGen ExAC gnomAD
CA7744975 rs749173752	211	E>K		No	ClinGen ExAC gnomAD
CA393855265 rs1302987964	212	E>K		No	ClinGen TOPMed
CA274753037 rs951699405 RCV000731730	213	E>K		No	ClinGen ClinVar TOPMed dbSNP gnomAD
rs780064072 CA7744974	213	E>V		No	ClinGen ExAC gnomAD
CA7744971 rs147271815	214	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	215	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1256874433 CA393855173	216	G>D		No	ClinGen gnomAD
rs756881578 CA7744969 RCV000596995	216	G>S		No	ClinGen ClinVar ExAC dbSNP gnomAD
rs199907867 CA7744967	217	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs758969666 CA7744966	219	K>T		No	ClinGen ExAC gnomAD
rs1596357951 CA393855061	221	R>*		No	ClinGen Ensembl
CA7744963 rs759790277	223	P>S		No	ClinGen ExAC gnomAD
rs1221382135 CA393854959	225	I>T		No	ClinGen TOPMed
CA393854931 rs1447171975	226	G>A		No	ClinGen gnomAD
CA7744962 rs754192577	227	H>D		No	ClinGen ExAC
rs760894269 CA7744961	227	H>P		No	ClinGen ExAC TOPMed gnomAD
CA7744958 rs772278249	232	D>E		No	ClinGen ExAC
CA7744957 rs763045951	233	R>G		No	ClinGen ExAC gnomAD
CA7744956 rs775548842	233	R>K		No	ClinGen ExAC gnomAD
CA7744934 rs770745116	235	V>G		No	ClinGen ExAC gnomAD
CA393854615 rs1285861819	235	V>M		No	ClinGen gnomAD
CA274752729 rs202028389	241	L>P		No	ClinGen Ensembl
CA7744931 rs771674158	245	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1275610777 CA7744929	248	E>K		No	ClinGen Ensembl
rs1416893030 CA393854401	249	G>S		No	ClinGen TOPMed
rs1160816753 CA393854385	250	L>I		No	ClinGen TOPMed
CA393854339 rs1435788401	253	D>N		No	ClinGen gnomAD
CA7744928 rs144850957	254	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
RCV000732084 CA7744927 rs144850957	254	T>S		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs375557658 CA7744925	256	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA7744909 rs768203277	260	G>E		No	ClinGen ExAC
rs1477296982 CA393854168	261	S>R		No	ClinGen gnomAD
TCGA novel	261	S>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs749811246 CA7744908	263	D>N		No	ClinGen ExAC TOPMed gnomAD
rs576023369 CA274752459	265	G>A		No	ClinGen 1000Genomes TOPMed gnomAD
CA393854054 rs1236063226	267	E>V		No	ClinGen gnomAD
CA7744907 rs780582714	268	V>G		No	ClinGen ExAC gnomAD
rs367893766 CA7744906	269	T>A		No	ClinGen ESP ExAC gnomAD
rs888635193 CA274752448	270	S>F		No	ClinGen TOPMed
CA7744905 rs149421285	273	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1235337860 CA393853914	276	K>T		No	ClinGen gnomAD
rs1328711434 CA393853855	280	N>S		No	ClinGen gnomAD
RCV000884879 CA7744901 rs115308854 RCV000396607	281	A>G		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA7744899 rs376313815	282	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1474013238 CA393853782	283	D>H		No	ClinGen gnomAD
rs1487639766 CA393853480	288	E>*		No	ClinGen gnomAD
CA393853403 rs750350100	290	R>G		No	ClinGen ExAC TOPMed gnomAD
CA7744878 rs767353387	290	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA393853370 rs570695901	291	N>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
COSM1708563 CA7744876 rs150252392 RCV000731818	292	E>K	skin [Cosmic]	No	ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs1339260867 CA393853257	296	N>S		No	ClinGen gnomAD
rs1275354746 CA393853198	297	V>A		No	ClinGen TOPMed
rs199735009 CA274752044	297	V>I		No	ClinGen 1000Genomes
CA7744873 rs749859446	299	G>A		No	ClinGen ExAC TOPMed gnomAD
CA7744872 rs764822607	300	F>S		No	ClinGen ExAC gnomAD
rs760168440 CA274752039	301	L>V		No	ClinGen ExAC TOPMed gnomAD
CA7744870 rs777246781	303	Q>R		No	ClinGen ExAC gnomAD
rs78921701 CA7744869	305	A>S		No	ClinGen 1000Genomes ExAC gnomAD
rs200733204 CA7744867	306	R>Q		No	ClinGen ExAC gnomAD
CA7744865 rs369649737	310	A>V		No	ClinGen ESP ExAC gnomAD
CA274752009 rs980780021	312	Y>H		No	ClinGen TOPMed gnomAD
CA7744844 rs768828336	314	R>C		No	ClinGen ExAC gnomAD
CA274751832 rs137958887	315	R>W		No	ClinGen ESP TOPMed gnomAD
rs544919898 CA7744841	317	G>S		No	ClinGen 1000Genomes ExAC gnomAD
rs746903632 CA7744840	319	D>G		No	ClinGen ExAC TOPMed gnomAD
rs1365910637 CA393852776	319	D>N		No	ClinGen TOPMed
CA393852567 rs1310321055	327	V>M		No	ClinGen TOPMed
rs374991257 CA7744838	328	S>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs1475652613 CA393852429	332	K>N		No	ClinGen gnomAD
rs759924997 CA274751815	333	G>D		No	ClinGen Ensembl
rs752501003 CA7744837	338	H>Y		No	ClinGen ExAC gnomAD
rs140237411 CA7744834	339	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA7744833 rs151136143	339	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA393850896 RCV000722711 rs368931670	344	H>N		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA7744829 rs368931670	344	H>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs1567221734 CA393850704 RCV000730898	345	I>F		No	ClinGen ClinVar Ensembl dbSNP
CA7744805 rs763209113	345	I>T		No	ClinGen ExAC TOPMed gnomAD
CA7744803 rs770017145	352	M>I		No	ClinGen ExAC TOPMed gnomAD
rs773144367 CA7744804	352	M>T		No	ClinGen ExAC TOPMed gnomAD
CA393850493 rs1386409751	354	K>N		No	ClinGen TOPMed gnomAD
CA274751514 rs994847156	356	T>I		No	ClinGen TOPMed
rs1385482567 CA393850392	358	Q>L		No	ClinGen TOPMed gnomAD
CA393850384 rs1160164426	359	D>Y		No	ClinGen gnomAD
TCGA novel	360	F>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs961539872 CA274751496	363	L>Q		No	ClinGen Ensembl
rs1173750610 CA393850273	364	I>M		No	ClinGen gnomAD
rs771907416 CA7744801	365	K>N		No	ClinGen ExAC gnomAD
CA7744802 rs759555498	365	K>Q		No	ClinGen ExAC gnomAD
TCGA novel	367	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs748094025 CA7744799	367	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1376061465 CA393850229	368	H>R		No	ClinGen gnomAD
rs1446362861 CA393850087	373	G>A		No	ClinGen TOPMed
CA393850077 rs1332959797	374	F>L		No	ClinGen gnomAD
rs1233123709 CA393850056	375	N>D		No	ClinGen gnomAD
rs775302308 CA7744777	375	N>S		No	ClinGen ExAC gnomAD
rs1285576541 CA393850028	376	I>S		No	ClinGen TOPMed
rs864622006 CA393850012 RCV000729339	377	R>Q		No	ClinGen ClinVar dbSNP gnomAD
CA7744776 rs202166707	377	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1265728364 CA393849999	378	E>D		No	ClinGen TOPMed
CA7744775 rs745516900	378	E>G		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	379	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA393849224 rs1331073625	381	S>R		No	ClinGen TOPMed
rs1209255671 RCV000730446 CA393849221	382	Y>N		No	ClinGen ClinVar TOPMed dbSNP
CA393849204 rs149121639	383	I>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs780612620 CA7744774	383	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1567221376 RCV000734605 CA393849159	386	H>P		No	ClinGen ClinVar Ensembl dbSNP
rs746479863 CA393849145	387	I>K		No	ClinGen ExAC gnomAD
CA7744772 rs746479863	387	I>T		No	ClinGen ExAC gnomAD
rs754113358 COSM1375505 CA7744749	392	S>L	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA393849039 rs754113358	392	S>W		No	ClinGen ExAC gnomAD
CA7744746 rs750538638	394	I>T		No	ClinGen ExAC gnomAD
CA7744747 rs756348705	394	I>V		No	ClinGen ExAC TOPMed gnomAD
CA7744745 rs767703690	396	S>G		No	ClinGen ExAC gnomAD
CA393848999 rs943813904	398	R>G		No	ClinGen TOPMed
rs762843831 CA7744744	398	R>H		No	ClinGen ExAC TOPMed gnomAD
CA393848998 rs762843831	398	R>P		No	ClinGen ExAC TOPMed gnomAD
rs752645244 CA7744743	399	L>F		No	ClinGen ExAC gnomAD
CA393848986 CA393848985 rs1277512682	400	M>I		No	ClinGen gnomAD
CA393848991 rs149943529	400	M>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
RCV000730142 rs149943529 CA7744742	400	M>V		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1156966876 CA393848982	401	C>R		No	ClinGen gnomAD
CA393848979 rs1418622932	401	C>S		No	ClinGen TOPMed gnomAD
CA393848980 rs1418622932	401	C>Y		No	ClinGen TOPMed gnomAD
rs1487587835 CA393848948	403	L>F		No	ClinGen TOPMed gnomAD
rs776351883 CA7744740	403	L>W		No	ClinGen ExAC gnomAD
CA393848933 rs1245923392	405	I>V		No	ClinGen gnomAD
rs770572425 CA7744739	406	T>I		No	ClinGen ExAC gnomAD
rs1489247242 CA393848878	409	G>S		No	ClinGen gnomAD
CA7744719 rs771586400	411	I>M		No	ClinGen ExAC gnomAD
rs761410537 CA7744717	412	P>R		No	ClinGen ExAC TOPMed gnomAD
rs769214740 CA7744714	414	D>H		No	ClinGen ExAC gnomAD
CA393887016 rs1337477471	415	Y>*		No	ClinGen TOPMed
CA7744713 rs749812732	415	Y>C		No	ClinGen ExAC gnomAD
CA7744712 RCV000598122 rs780626848	416	R>*		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA393887007 rs1048365077	416	R>P		No	ClinGen TOPMed gnomAD
rs1048365077 CA274812037	416	R>Q		No	ClinGen TOPMed gnomAD
CA393886998 rs1424353034	417	S>Y		No	ClinGen TOPMed gnomAD
CA7744711 rs770248663	418	L>V		No	ClinGen ExAC TOPMed gnomAD
RCV000734722 rs963559069 CA274812034	420	T>I		No	ClinGen ClinVar TOPMed dbSNP gnomAD
rs931334263 CA274812030	421	Q>P		No	ClinGen TOPMed gnomAD
rs1567220049 CA393886937	422	Y>*		No	ClinGen Ensembl
rs546316782 CA7744709	422	Y>C		No	ClinGen 1000Genomes ExAC gnomAD
CA7744708 rs757361736	424	Q>E		No	ClinGen ExAC gnomAD
CA7744707 rs747115580	424	Q>L		No	ClinGen ExAC gnomAD
CA7744690 rs747183786	426	Y>C		No	ClinGen ExAC gnomAD
CA393886777 rs1243258906	427	G>R		No	ClinGen gnomAD
CA274811403 rs533792561	428	P>S		No	ClinGen Ensembl
CA7744689 rs777956772	430	H>Q		No	ClinGen ExAC gnomAD
CA274811398 rs929596244	431	L>P		No	ClinGen Ensembl
CA274811395 rs918085232	433	T>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs145418676 CA7744687	436	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA7744685 rs368348750	438	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1392618228 CA393886627	440	A>P		No	ClinGen gnomAD
rs1291562680 CA393886610	440	A>V		No	ClinGen gnomAD
CA393886598 rs1423997520	441	G>E		No	ClinGen gnomAD
rs192649538 CA7744683	444	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7744681 rs763758066	445	E>V		No	ClinGen ExAC gnomAD
rs1452971983 CA393886541	447	A>D		No	ClinGen gnomAD
rs1452971983 CA393886542	447	A>V		No	ClinGen gnomAD
CA7744678 rs765841703	449	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs142261328 CA274811332	450	D>E		No	ClinGen ESP ExAC gnomAD
RCV000731729 CA7744676 rs148809175	451	T>A		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA393886499 rs1200615672	454	A>V		No	ClinGen TOPMed
CA7744672 rs772233919	455	V>M		No	ClinGen ExAC TOPMed gnomAD
CA7744671 rs748241973	457	S>N		No	ClinGen ExAC gnomAD
rs769793253 CA7744669	460	S>G		No	ClinGen ExAC gnomAD
rs756974736 CA7744666 RCV000734520	465	D>N		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
TCGA novel	466	K>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA393886416 rs1383701759	467	A>P		No	ClinGen gnomAD
rs943664567 CA274811276	469	G>R		No	ClinGen TOPMed
rs758181262 CA7744644	470	K>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	473	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA393885999 rs752374405	474	A>G		No	ClinGen ExAC TOPMed gnomAD
rs752374405 CA7744643	474	A>V		No	ClinGen ExAC TOPMed gnomAD
CA274810679 rs376676339	476	S>N		No	ClinGen Ensembl
CA274810673 rs988730989	482	S>N		No	ClinGen TOPMed gnomAD
rs767694622 CA274810660	485	R>C		No	ClinGen gnomAD
rs141601851 CA7744642	485	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs754469121 CA7744641	488	S>R		No	ClinGen ExAC TOPMed gnomAD
CA7744622 rs754592554	494	I>M		No	ClinGen ExAC gnomAD
rs989449085 CA274810132	496	R>C		No	ClinGen gnomAD
CA7744620 rs748759914	496	R>H		No	ClinGen ExAC TOPMed
rs748759914 CA393885459	496	R>P		No	ClinGen ExAC TOPMed
rs779601858 CA7744619	498	D>H		No	ClinGen ExAC gnomAD
CA274810097 rs138436850	498	D>V		No	ClinGen ESP
CA7744617 rs750896440	499	G>S		No	ClinGen ExAC TOPMed gnomAD
CA393885400 CA7744613 rs764239087	500	E>D		No	ClinGen ExAC gnomAD
rs751858602 CA7744615	500	E>K		No	ClinGen ExAC TOPMed gnomAD
CA393885375 rs1163461014	502	D>N		No	ClinGen TOPMed gnomAD
rs1320275202 CA393885323	506	P>A		No	ClinGen TOPMed gnomAD
CA7744610 rs765330988	506	P>L		No	ClinGen ExAC gnomAD
rs1320275202 CA393885321	506	P>S		No	ClinGen TOPMed gnomAD
rs773306000 CA7744609	507	R>*		No	ClinGen ExAC TOPMed gnomAD
CA7744608 rs773306000	507	R>G		No	ClinGen ExAC TOPMed gnomAD
rs772096296 CA7744607	507	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs977026766 CA393885310	508	D>H		No	ClinGen gnomAD
rs977026766 CA274810028	508	D>N		No	ClinGen gnomAD
rs1223463035 CA393885290	509	M>T		No	ClinGen gnomAD
CA7744606 rs747961052	510	A>P		No	ClinGen ExAC gnomAD
CA393885277 rs1290979530	510	A>V		No	ClinGen gnomAD
rs1172025004 CA717051408	511	Y>*		No	ClinGen TOPMed
CA7744603 rs748963280	512	V>A		No	ClinGen ExAC gnomAD
CA7744604 RCV000730781 rs768250541	512	V>I		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA393885249 rs1367843539	513	F>L		No	ClinGen gnomAD
CA274809966 rs3177428 VAR_057330	513	F>S		No	ClinGen UniProt Ensembl dbSNP
rs11073964 CA393885236	514	G>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs11073964 CA7744602	514	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	519	P>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1018892338 CA393885173	519	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1018892338 CA274809960	519	P>T		No	ClinGen gnomAD
rs781683489 CA7744599	520	L>V		No	ClinGen ExAC gnomAD
rs1347104287 CA393885152	521	S>N		No	ClinGen gnomAD
rs751982861 CA393885126	523	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA7744597 rs751982861 RCV000734049	523	R>G		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA7744596 rs764518291	523	R>Q		No	ClinGen ExAC gnomAD
rs758590786 CA7744595	524	I>T		No	ClinGen ExAC gnomAD
CA7744580 rs772789929	528	V>M		No	ClinGen ExAC gnomAD
rs1483298047 CA393885000	529	L>P		No	ClinGen gnomAD
RCV000734194 CA7744579 rs376948701	530	E>Q		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA7744576 rs574565348	531	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7744573 rs373692333	532	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1382094032 CA393884968	535	Q>E		No	ClinGen gnomAD
CA393884966 rs1382094032	535	Q>K		No	ClinGen gnomAD
CA7744571 rs761879749	537	L>P		No	ClinGen ExAC
RCV000333604 rs886043445	539	E>missing		No	ClinVar dbSNP
CA7744568 rs762834985	542	R>Q		No	ClinGen ExAC gnomAD
CA393884920 rs1450789295	542	R>W		No	ClinGen TOPMed gnomAD
CA393884916 rs1567217816	543	L>V		No	ClinGen Ensembl
CA393884912 rs1171602073	544	L>V		No	ClinGen gnomAD
CA7744567 rs775075900	546	C>Y		No	ClinGen ExAC gnomAD
rs769498580 CA7744565	550	A>P		No	ClinGen ExAC gnomAD
CA7744564 rs200192868	550	A>V		No	ClinGen ExAC gnomAD
rs1181188046 CA393884862	551	F>L		No	ClinGen gnomAD
CA7744562 rs770408602	552	T>P		No	ClinGen ExAC TOPMed gnomAD
CA393884833 rs1470824318	553	D>E		No	ClinGen TOPMed
rs371408777 CA7744544	554	M>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs759237423 CA7744546	554	M>V		No	ClinGen ExAC gnomAD
CA7744543 rs765978683	557	E>A		No	ClinGen ExAC TOPMed gnomAD
rs1318683006 CA393884791	559	K>R		No	ClinGen gnomAD
CA7744541 rs772540092	560	A>P		No	ClinGen ExAC gnomAD
rs1297881333 CA393884783	560	A>V		No	ClinGen TOPMed gnomAD
rs566630364 RCV000597264 CA393884772	562	S>I		No	ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD
TCGA novel	564	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA393884760 rs1217376595	564	S>P		No	ClinGen TOPMed gnomAD
CA393884753 rs1366772648	565	L>P		No	ClinGen gnomAD
CA7744539 rs748598273	565	L>V		No	ClinGen ExAC TOPMed gnomAD
CA7744538 rs774894332	566	R>C		No	ClinGen ExAC gnomAD
rs769118116 CA7744537	566	R>H		No	ClinGen ExAC TOPMed gnomAD
CA393884748 rs769118116	566	R>P		No	ClinGen ExAC TOPMed gnomAD
CA274809298 rs924256704	567	L>F		No	ClinGen TOPMed gnomAD
rs1159776245 CA393884729	569	L>F		No	ClinGen gnomAD
rs1205746886 CA393884717	571	V>M		No	ClinGen TOPMed
rs145092724 CA7744533 RCV000331023	572	F>V		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA393884674 rs1194123657	574	G>D		No	ClinGen TOPMed
CA7744532 rs367695306	574	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA7744530 rs765113299	575	G>D		No	ClinGen ExAC
CA274809252 rs902565905	575	G>S		No	ClinGen TOPMed
CA7744529 rs754799765	576	C>Y		No	ClinGen ExAC TOPMed gnomAD
rs1206938532 CA393884622	578	F>C		No	ClinGen TOPMed gnomAD
rs1206938532 CA393884623	578	F>S		No	ClinGen TOPMed gnomAD
rs1481632269 CA393884613	579	S>A		No	ClinGen TOPMed
rs147814686 CA7744524 COSM1563288	585	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs772845390 CA7744525	585	R>W		No	ClinGen ExAC gnomAD
CA7744522 rs762429843	589	R>K		No	ClinGen ExAC gnomAD
CA7744521 rs775019015	590	E>K		No	ClinGen ExAC TOPMed gnomAD
CA7744500 rs144391886	594	R>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA393883813 rs202125407	594	R>S		No	ClinGen ESP TOPMed
rs1253332050 CA393883782	597	F>L		No	ClinGen gnomAD
rs576626726 CA7744499	599	T>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs576626726 CA7744498	599	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA393883746 rs1423287110	600	T>P		No	ClinGen TOPMed
rs148962215 CA7744496	601	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs747107152 CA7744494	603	T>I		No	ClinGen ExAC TOPMed gnomAD
rs1212793298 CA393883691	604	N>D		No	ClinGen gnomAD
rs1274612835 CA393883686	604	N>T		No	ClinGen Ensembl
rs936302406 CA274808496	605	S>G		No	ClinGen TOPMed
CA7744492 rs768648295	605	S>N		No	ClinGen ExAC gnomAD
rs779948069 CA7744490	605	S>R		No	ClinGen ExAC TOPMed gnomAD
rs936302406 CA274808497	605	S>R		No	ClinGen TOPMed
CA393883664 rs755882410	606	A>S		No	ClinGen ExAC TOPMed gnomAD
COSM1375503 CA7744489 rs755882410	606	A>T	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA274808441 rs868113080	607	R>C		No	ClinGen Ensembl
rs564878482 CA7744488	607	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7744487 rs780709144	610	E>*		No	ClinGen ExAC gnomAD
rs1379941876 CA393883614	610	E>V		No	ClinGen TOPMed
rs751168581 CA7744485	612	M>T		No	ClinGen ExAC gnomAD
rs1279163428 CA393883584	613	S>G		No	ClinGen TOPMed gnomAD
rs1308308589 CA393883564	614	E>D		No	ClinGen gnomAD
rs1036076494 CA393883568	614	E>G		No	ClinGen TOPMed gnomAD
CA274808429 rs922982612	614	E>Q		No	ClinGen TOPMed gnomAD
rs1036076494 CA274808423	614	E>V		No	ClinGen TOPMed gnomAD
TCGA novel	615	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7744484 rs763669338	615	V>L		No	ClinGen ExAC TOPMed gnomAD
CA7744483 rs763607853	616	K>E		No	ClinGen ExAC TOPMed gnomAD
CA393883527 rs1596347263	617	A>V		No	ClinGen Ensembl

1 associated diseases with Q9H267

[MIM: 208085]: Arthrogryposis, renal dysfunction and cholestasis syndrome 1 (ARCS1)

A multisystem disorder, characterized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with bile duct hypoplasia and low gamma glutamyl transpeptidase activity. Platelet dysfunction is common. {ECO:0000269|PubMed:15052268, ECO:0000269|PubMed:18853461, ECO:0000269|PubMed:20190753, ECO:0000269|PubMed:22753090, ECO:0000269|PubMed:23918659}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

A multisystem disorder, characterized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with bile duct hypoplasia and low gamma glutamyl transpeptidase activity. Platelet dysfunction is common. {ECO:0000269|PubMed:15052268, ECO:0000269|PubMed:18853461, ECO:0000269|PubMed:20190753, ECO:0000269|PubMed:22753090, ECO:0000269|PubMed:23918659}. Note=The disease is caused by variants affecting the gene represented in this entry.

No regional properties for Q9H267

Type	Name	Position	InterPro Accession
No domain, repeats, and functional sites for Q9H267

Functions

		Description
EC Number
Subcellular Localization	Late endosome membrane ; Peripheral membrane protein; Cytoplasmic side Lysosome membrane ; Peripheral membrane protein; Cytoplasmic side Early endosome Cytoplasmic vesicle, clathrin-coated vesicle Recycling endosome	Colocalizes in clusters with VIPAS39 at cytoplasmic organelles (PubMed:19109425, PubMed:31479177) Colocalizes with RAB11A and VIPAS39 on recycling endosomes (PubMed:22753090) Colocalizes with AP-3, clathrin, Rab5 and Rab7b (PubMed:21411634) Colocalizes with M tuberculosis PtpA in the cytosol of tuberculosis-infected macrophages and associates with phagosomes (PubMed:18474358)
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

18 GO annotations of cellular component

Name	Definition
clathrin-coated vesicle	A vesicle with a coat formed of clathrin connected to the membrane via one of the clathrin adaptor complexes.
CORVET complex	A multimeric protein complex that acts as an endosomal tethering complex (CORVET = class C core vacuole/endosome tethering) by cooperating with Rab GTPases to capture endosomal vesicles and trap them prior to the action of SNAREs; the complex is involved in endo-lysosomal biogenesis and required for transport between endosome and vacuole. The Saccharomyces cerevisiae complex contains Vps8p, Vps3p, Pep5p, Vps16p, Pep3p, and Vps33p.
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
early endosome membrane	The lipid bilayer surrounding an early endosome.
endosome	A vacuole to which materials ingested by endocytosis are delivered.
endosome membrane	The lipid bilayer surrounding an endosome.
Golgi apparatus	A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways.
HOPS complex	A multimeric protein complex that associates with the vacuolar membrane, late endosomal (multivesicular body) and lysosomal membranes. HOPS is a tethering complex involved in vesicle fusion.
late endosome	A prelysosomal endocytic organelle differentiated from early endosomes by lower lumenal pH and different protein composition. Late endosomes are more spherical than early endosomes and are mostly juxtanuclear, being concentrated near the microtubule organizing center.
late endosome membrane	The lipid bilayer surrounding a late endosome.
lysosomal membrane	The lipid bilayer surrounding the lysosome and separating its contents from the cell cytoplasm.
lysosome	A small lytic vacuole that has cell cycle-independent morphology found in most animal cells and that contains a variety of hydrolases, most of which have their maximal activities in the pH range 5-6. The contained enzymes display latency if properly isolated. About 40 different lysosomal hydrolases are known and lysosomes have a great variety of morphologies and functions.
perinuclear region of cytoplasm	Cytoplasm situated near, or occurring around, the nucleus.
platelet alpha granule	A secretory organelle found in blood platelets, which is unique in that it exhibits further compartmentalization and acquires its protein content via two distinct mechanisms: (1) biosynthesis predominantly at the megakaryocyte (MK) level (with some vestigial platelet synthesis) (e.g. platelet factor 4) and (2) endocytosis and pinocytosis at both the MK and circulating platelet levels (e.g. fibrinogen (Fg) and IgG).
recycling endosome	An organelle consisting of a network of tubules that functions in targeting molecules, such as receptors transporters and lipids, to the plasma membrane.
vacuole	A closed structure, found only in eukaryotic cells, that is completely surrounded by unit membrane and contains liquid material. Cells contain one or several vacuoles, that may have different functions from each other. Vacuoles have a diverse array of functions. They can act as a storage organelle for nutrients or waste products, as a degradative compartment, as a cost-effective way of increasing cell size, and as a homeostatic regulator controlling both turgor pressure and pH of the cytosol.
vesicle tethering complex	Any protein complex that plays a role in vesicle tethering.

1 GO annotations of molecular function

Name	Definition
protein-containing complex binding	Binding to a macromolecular complex.

15 GO annotations of biological process

Name	Definition
collagen fibril organization	Any process that determines the size and arrangement of collagen fibrils within an extracellular matrix.
collagen metabolic process	The chemical reactions and pathways involving collagen, any of a group of fibrous proteins of very high tensile strength that form the main component of connective tissue in animals. Collagen is highly enriched in glycine (some regions are 33% glycine) and proline, occurring predominantly as 3-hydroxyproline (about 20%).
endosome organization	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of endosomes.
intracellular protein transport	The directed movement of proteins in a cell, including the movement of proteins between specific compartments or structures within a cell, such as organelles of a eukaryotic cell.
intracellular transport	The directed movement of substances within a cell.
lysosome localization	Any process in which a lysosome is transported to, and/or maintained in, a specific location.
megakaryocyte development	The process whose specific outcome is the progression of a megakaryocyte cell over time, from its formation to the mature structure. Megakaryocyte development does not include the steps involved in committing a cell to a megakaryocyte fate. A megakaryocyte is a giant cell 50 to 100 micron in diameter, with a greatly lobulated nucleus, found in the bone marrow.
melanosome localization	Any process in which a melanosome is transported to, and/or maintained in, a specific location within the cell.
membrane fusion	The membrane organization process that joins two lipid bilayers to form a single membrane.
peptidyl-lysine hydroxylation	The hydroxylation of peptidyl-lysine to form peptidyl-hydroxylysine.
phagosome-lysosome fusion	The creation of a phagolysosome from a phagosome and a lysosome.
platelet alpha granule organization	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a platelet alpha granule. A platelet alpha granule is a secretory organelle found in blood platelets.
protein transport	The directed movement of proteins into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.
regulation of platelet aggregation	Any process that modulates the rate, frequency or extent of platelet aggregation. Platelet aggregation is the adhesion of one platelet to one or more other platelets via adhesion molecules.
vesicle-mediated transport	A cellular transport process in which transported substances are moved in membrane-bounded vesicles; transported substances are enclosed in the vesicle lumen or located in the vesicle membrane. The process begins with a step that directs a substance to the forming vesicle, and includes vesicle budding and coating. Vesicles are then targeted to, and fuse with, an acceptor membrane.

4 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q2HJ18	VPS33B	Vacuolar protein sorting-associated protein 33B	Bos taurus (Bovine)	PR
Q15833	STXBP2	Syntaxin-binding protein 2	Homo sapiens (Human)	PR
P59016	Vps33b	Vacuolar protein sorting-associated protein 33B	Mus musculus (Mouse)	PR
Q63616	Vps33b	Vacuolar protein sorting-associated protein 33B	Rattus norvegicus (Rat)	PR

10	20	30	40	50	60
MAFPHRPDAP	ELPDFSMLKR	LARDQLIYLL	EQLPGKKDLF	IEADLMSPLD	RIANVSILKQ
70	80	90	100	110	120
HEVDKLYKVE	NKPALSSNEQ	LCFLVRPRIK	NMRYIASLVN	ADKLAGRTRK	YKVIFSPQKF
130	140	150	160	170	180
YACEMVLEEE	GIYGDVSCDE	WAFSLLPLDV	DLLSMELPEF	FRDYFLEGDQ	RWINTVAQAL
190	200	210	220	230	240
HLLSTLYGPF	PNCYGIGRCA	KMAYELWRNL	EEEEDGETKG	RRPEIGHIFL	LDRDVDFVTA
250	260	270	280	290	300
LCSQVVYEGL	VDDTFRIKCG	SVDFGPEVTS	SDKSLKVLLN	AEDKVFNEIR	NEHFSNVFGF
310	320	330	340	350	360
LSQKARNLQA	QYDRRRGMDI	KQMKNFVSQE	LKGLKQEHRL	LSLHIGACES	IMKKKTKQDF
370	380	390	400	410	420
QELIKTEHAL	LEGFNIREST	SYIEEHIDRQ	VSPIESLRLM	CLLSITENGL	IPKDYRSLKT
430	440	450	460	470	480
QYLQSYGPEH	LLTFSNLRRA	GLLTEQAPGD	TLTAVESKVS	KLVTDKAAGK	ITDAFSSLAK
490	500	510	520	530	540
RSNFRAISKK	LNLIPRVDGE	YDLKVPRDMA	YVFGGAYVPL	SCRIIEQVLE	RRSWQGLDEV
550	560	570	580	590	600
VRLLNCSDFA	FTDMTKEDKA	SSESLRLILV	VFLGGCTFSE	ISALRFLGRE	KGYRFIFLTT
610
AVTNSARLME	AMSEVKA