AiPD: Autoinhibited Protein Database

P51798

Gene name	CLCN7
Protein name	H(+)/Cl(-) exchange transporter 7
Names	Chloride channel 7 alpha subunit, Chloride channel protein 7, ClC-7
Species	Homo sapiens (Human)
KEGG Pathway	hsa:1186
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-129 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-129 (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

7 structures for P51798

Entry ID	Method	Resolution	Chain	Position	Source
7BXU	EM	370 A	A/B	1-805	PDB
7CQ5	EM	260 A	C/D	1-805	PDB
7CQ6	EM	300 A	C/D	1-805	PDB
7CQ7	EM	355 A	C/D	1-805	PDB
7JM7	EM	282 A	A/C	1-805	PDB
8HVT	EM	360 A	A/C	1-805	PDB
AF-P51798-F1	Predicted				AlphaFoldDB

708 variants for P51798

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV002556582 RCV001120412 rs528173586 RCV001856579 CA276630045	44	A>T	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar 1000Genomes TOPMed dbSNP gnomAD
RCV000050235 RCV000055847 CA264215 RCV000480176 rs387907576	99	Y>C	Autosomal recessive osteopetrosis 4 Autosomal dominant osteopetrosis 2 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
VAR_064637	132	L>P	OPTB4 [UniProt]	Yes	UniProt
VAR_075576	213	L>F	OPTA2; unknown pathological significance [UniProt]	Yes	UniProt
VAR_064638 rs367567630 RCV000656495 CA7810682	214	N>S	Autosomal recessive osteopetrosis 4 OPTB4 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD
RCV001781390 RCV001843355 VAR_020997 CA344955 rs397515539	215	G>R	Autosomal dominant osteopetrosis 2 OPTA2 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
VAR_075577	224	L>R	OPTB4; unknown pathological significance [UniProt]	Yes	UniProt
VAR_064639 rs760209068	227	L>missing	OPTB4 [UniProt]	Yes	UniProt dbSNP
VAR_064639 rs760209068	227	L>del	OPTB4 [UniProt]	Yes	UniProt dbSNP
rs1360480518 CA394191202 VAR_020998	240	G>R	OPTB4 [UniProt]	Yes	ClinGen UniProt TOPMed dbSNP gnomAD
VAR_020999	249	P>R	OPTB4 [UniProt]	Yes	UniProt
CA118542 rs121434436 RCV000007268 VAR_037427	261	I>F	Autosomal recessive osteopetrosis 4 OPTB4 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV000995510 CA394190457 rs1163577336	280	R>H	Autosomal recessive osteopetrosis 4 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
CA7810545 RCV002279283 RCV001266783 VAR_021000 RCV001814174 RCV000505540 rs760956030 RCV001857236	286	R>Q	Variant assessed as Somatic; 0.0 impact. Autosomal dominant osteopetrosis 2 Inborn genetic diseases OPTA2 [NCI-TCGA, ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC NCI-TCGA dbSNP gnomAD
rs1291061962 CA394190396 VAR_075578	286	R>W	OPTA2; unknown pathological significance [UniProt]	Yes	ClinGen UniProt dbSNP gnomAD
VAR_075579	290	S>Y	OPTA2; unknown pathological significance [UniProt]	Yes	UniProt
rs769080435 RCV001265951	297	V>M	Inborn genetic diseases [ClinVar]	Yes	ClinVar dbSNP
rs977932714 CA276677948 VAR_075580	299	A>V	OPTB4; unknown pathological significance [UniProt]	Yes	ClinGen UniProt Ensembl dbSNP
VAR_064640 rs2038825509 RCV001310220	318	F>L	Autosomal dominant osteopetrosis 2 OPTA2 [ClinVar, UniProt]	Yes	ClinVar UniProt dbSNP
VAR_075581	326	R>G	OPTA2; unknown pathological significance [UniProt]	Yes	UniProt
VAR_021001	332	M>V	OPTB4 [UniProt]	Yes	UniProt
VAR_075582	347	G>R	OPTA2; unknown pathological significance [UniProt]	Yes	UniProt
CA394189434 rs1555465003 RCV000656725	389	G>R	Autosomal recessive osteopetrosis 4 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA7810374 VAR_064641 rs765444328 COSM967304	403	R>Q	Variant assessed as Somatic; 0.0 impact. endometrium OPTB4 [NCI-TCGA, Cosmic, UniProt]	Yes	ClinGen cosmic curated UniProt ExAC NCI-TCGA dbSNP gnomAD
RCV002264194 rs780959736 CA7810346 RCV002556568 RCV001120015	409	R>Q	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
VAR_021002 RCV000251178 RCV001516365 CA344953 RCV000055845 RCV000338192 RCV002277138 rs12926089	418	V>M	Autosomal recessive osteopetrosis 4 [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
VAR_075583	473	S>N	OPTA2; unknown pathological significance [UniProt]	Yes	UniProt
VAR_021003	490	L>F	OPTA2 [UniProt]	Yes	UniProt
VAR_064642 CA394187502 rs368190250 CA7810179	521	G>R	OPTB4 [UniProt]	Yes	ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD
VAR_064643 rs139329533 CA276673382	526	R>Q	OPTB4 [UniProt]	Yes	ClinGen UniProt ESP TOPMed dbSNP gnomAD
VAR_021004 rs1233085260 CA394187470	526	R>W	OPTB4 [UniProt]	Yes	ClinGen UniProt TOPMed dbSNP gnomAD
VAR_064644	549	L>P	OPTB4 [UniProt]	Yes	UniProt
CA118538 RCV000007263 rs121434432	555	Q>*	Autosomal recessive osteopetrosis 4 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000578154 rs757788894 CA7810105	561	R>Q	Autosomal recessive osteopetrosis 4 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs2038701269 RCV001197822	563	T>K	Hypopigmentation, organomegaly, and delayed myelination and development [ClinVar]	Yes	ClinVar dbSNP
VAR_075584	564	L>P	OPTA2; unknown pathological significance [UniProt]	Yes	UniProt
rs1064794323 CA16620070 VAR_021005 RCV000485112	614	L>P	OPTB4 [UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV001255865 rs1064794323	614	L>R	Autosomal dominant osteopetrosis 2 [ClinVar]	Yes	ClinVar dbSNP
VAR_064645	651	L>P	OPTB4 [UniProt]	Yes	UniProt
VAR_021006	677	G>V	OPTA2 [UniProt]	Yes	UniProt
rs1057517718 VAR_083175 CA16042924 RCV000412760 RCV000824813	715	Y>C	Hypopigmentation, organomegaly, and delayed myelination and development HOD; increased voltage-gated chloride channel activity; increased lysosomal lumen acidification; increased cytoplasmic vacuole size [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
VAR_021007 rs1320932332 CA394185484	744	S>F	OPTB4 [UniProt]	Yes	ClinGen UniProt TOPMed dbSNP gnomAD
CA7809860 rs760740877 VAR_064646	758	F>L	OPTA2 [UniProt]	Yes	ClinGen UniProt ExAC dbSNP gnomAD
CA118540 RCV000007264 VAR_017838 rs121434433	762	R>Q	Autosomal recessive osteopetrosis 4 OPTA2 and OPTB4; not detected in the fibroblasts from the patient [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt TOPMed dbSNP gnomAD
CA394185256 rs1490598538 VAR_064647	762	R>W	Variant assessed as Somatic; 0.0 impact. OPTB4 [NCI-TCGA, UniProt]	Yes	ClinGen UniProt NCI-TCGA dbSNP gnomAD
RCV000007265 VAR_017839 rs121434434 CA118541	766	L>P	Autosomal recessive osteopetrosis 4 OPTB4 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
VAR_064648	767	R>P	OPTB4 [UniProt]	Yes	UniProt
rs772579858 CA7809858 VAR_021008	767	R>Q	OPTB4 [UniProt]	Yes	ClinGen UniProt ExAC TOPMed dbSNP gnomAD
RCV000007266 RCV001851716 rs121434435 CA253987 VAR_017840 RCV000055846	767	R>W	Autosomal recessive osteopetrosis 4 Autosomal dominant osteopetrosis 2 OPTA2 and OPTB4 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
rs775186615	1	M>?	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs946235877 CA394194351	3	N>I		No	ClinGen TOPMed
CA276630193 rs946235877	3	N>T		No	ClinGen TOPMed
CA7810952 rs745864670	5	S>F		No	ClinGen ExAC TOPMed gnomAD
CA276630175 rs1015692728	6	K>M		No	ClinGen TOPMed
CA7810950 rs770644432	11	S>F		No	ClinGen ExAC gnomAD
CA276630167 rs866236628	12	G>D		No	ClinGen Ensembl
CA394194226 rs1438872021	13	R>G		No	ClinGen TOPMed
CA394194222 rs1394121118	13	R>P		No	ClinGen gnomAD
rs747186872 CA394194205	14	D>E		No	ClinGen ExAC TOPMed gnomAD
CA394194216 rs1458357140	14	D>N		No	ClinGen TOPMed gnomAD
CA276630166 rs777887319	15	R>L		No	ClinGen ExAC TOPMed gnomAD
CA7810948 rs777887319	15	R>P		No	ClinGen ExAC TOPMed gnomAD
CA394194201 rs1596234094	15	R>W		No	ClinGen Ensembl
rs758456856 CA7810947	16	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA276630135 rs952709650	18	E>A		No	ClinGen TOPMed
CA394194168 rs1380353017	18	E>Q		No	ClinGen gnomAD
rs1226530946 CA394194147	19	E>D		No	ClinGen gnomAD
TCGA novel	19	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA394194129 rs866811790	21	A>P		No	ClinGen gnomAD
rs866811790 CA276630134	21	A>S		No	ClinGen gnomAD
rs1210753060 CA394194122	21	A>V		No	ClinGen gnomAD
CA394194113 rs1489757147	22	P>L		No	ClinGen gnomAD
CA394194112 rs1221876582	23	L>M		No	ClinGen gnomAD
CA7810945 rs779004440	25	R>P		No	ClinGen ExAC gnomAD
CA394194098 rs1237244859	26	R>G		No	ClinGen gnomAD
rs1335334648 CA394194094	26	R>K		No	ClinGen gnomAD
CA394194097 rs1237244859	26	R>W		No	ClinGen gnomAD
CA394194090 rs1158311054	27	T>A		No	ClinGen TOPMed
CA394194081 rs1406198864	28	A>E		No	ClinGen TOPMed
rs1596234026 CA394194069	30	P>L		No	ClinGen Ensembl
rs1306027270 CA394194072	30	P>S		No	ClinGen gnomAD
CA394194065 rs1347342721	31	G>D		No	ClinGen gnomAD
RCV002522821 rs537057233 CA10642968 RCV000277614	32	G>A		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA394194061 rs1293523058	32	G>R		No	ClinGen TOPMed gnomAD
RCV000370036 RCV001859896 CA7810943 rs537057233	32	G>V		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA394194056 rs1360681293	33	G>W		No	ClinGen TOPMed gnomAD
rs1301605920 CA394194052	34	T>A		No	ClinGen Ensembl
CA394194047 rs1159780127	34	T>M		No	ClinGen gnomAD
CA394194044 rs1362792964	35	P>S		No	ClinGen gnomAD
CA394194040 rs1435229895	36	L>M		No	ClinGen gnomAD
rs1228740943 CA394194036	36	L>R		No	ClinGen TOPMed
CA394194019 rs972786509	39	G>E		No	ClinGen TOPMed gnomAD
rs972786509 CA276630090	39	G>V		No	ClinGen TOPMed gnomAD
rs1488902765 CA394194020	39	G>W		No	ClinGen gnomAD
CA7810941 rs756441751	40	A>S		No	ClinGen ExAC TOPMed gnomAD
CA394194017 rs756441751	40	A>T		No	ClinGen ExAC TOPMed gnomAD
CA276630070 rs568032471	41	G>R		No	ClinGen 1000Genomes TOPMed gnomAD
CA394194011 rs568032471	41	G>W		No	ClinGen 1000Genomes TOPMed gnomAD
CA394194002 rs1281135690	42	P>L		No	ClinGen gnomAD
rs1325470085 CA394194005	42	P>S		No	ClinGen gnomAD
CA394194001 rs1340989743	43	G>W		No	ClinGen gnomAD
rs1460371293 CA394193993	44	A>D		No	ClinGen TOPMed
rs1172853301 CA394193987	45	A>G		No	ClinGen gnomAD
rs763628871 CA7810940	45	A>S		No	ClinGen ExAC TOPMed gnomAD
rs763628871 CA394193989	45	A>T		No	ClinGen ExAC TOPMed gnomAD
CA394193986 rs1172853301	45	A>V		No	ClinGen gnomAD
rs762729630 CA7810939	46	R>C		No	ClinGen ExAC gnomAD
RCV001091434 CA276630015 rs948980711	47	Q>*		No	ClinGen ClinVar TOPMed dbSNP
CA394193974 rs1265920152	47	Q>H		No	ClinGen gnomAD
CA394193976 rs1478435516	47	Q>R		No	ClinGen gnomAD
rs759148631 CA7810918	48	S>L		No	ClinGen ExAC gnomAD
rs1215800471 CA394193655	49	P>A		No	ClinGen gnomAD
TCGA novel	49	P>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1215800471 CA394193654	49	P>S		No	ClinGen gnomAD
CA7810917 rs753759302	50	R>C		No	ClinGen ExAC TOPMed gnomAD
rs760707771 CA7810915	50	R>H		No	ClinGen ExAC TOPMed gnomAD
rs760707771 CA7810916	50	R>L		No	ClinGen ExAC TOPMed gnomAD
CA394193643 rs1222828455	51	S>C		No	ClinGen gnomAD
CA7810914 rs558563372	52	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA276685923 rs865969846	55	R>*		No	ClinGen gnomAD
rs761968103 CA394193620	55	R>P		No	ClinGen ExAC TOPMed gnomAD
rs761968103 CA7810912	55	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs967197502 CA276685913	56	V>G		No	ClinGen TOPMed gnomAD
CA7810910 rs538186474	57	G>R		No	ClinGen ExAC TOPMed gnomAD
RCV000905433 CA7810908 rs538485246	58	H>L		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs538485246 CA7810909	58	H>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA394193597 CA7810907 rs770192718	59	M>I		No	ClinGen ExAC TOPMed gnomAD
rs1020575479 CA276685899	59	M>T		No	ClinGen TOPMed gnomAD
rs746442657 CA7810906	60	S>R		No	ClinGen ExAC gnomAD
CA394193585 COSM471339 rs781351932	61	S>N	kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs781351932 CA7810905	61	S>T		No	ClinGen ExAC gnomAD
CA276685882 rs147640837	62	V>M		No	ClinGen ESP TOPMed gnomAD
rs1186618584 CA394193572	63	E>G		No	ClinGen gnomAD
rs757699034 CA7810904	66	D>E		No	ClinGen ExAC TOPMed gnomAD
CA276685880 rs931291467	66	D>G		No	ClinGen Ensembl
CA276685858 rs926749321	68	L>F		No	ClinGen Ensembl
CA394193532 rs1284509531	69	L>S		No	ClinGen TOPMed
rs762701523	71	P>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs1239831140 CA394193519	71	P>A		No	ClinGen gnomAD
rs145267254 CA7810903 RCV001120130 RCV000925973	71	P>L		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA394193517 rs145267254	71	P>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs112431403 CA276683608	72	D>G		No	ClinGen Ensembl
rs1054772658 CA276683607	73	M>V		No	ClinGen TOPMed gnomAD
rs1596224707 CA394193319	74	D>A		No	ClinGen Ensembl
CA7810873 rs751347106	75	P>L		No	ClinGen ExAC TOPMed gnomAD
CA7810874 rs751347106	75	P>R		No	ClinGen ExAC TOPMed gnomAD
rs1479961601 CA394193279	78	P>L		No	ClinGen gnomAD
CA7810872 rs763930418	79	F>L		No	ClinGen ExAC gnomAD
rs763026064 CA7810871	79	F>L		No	ClinGen ExAC gnomAD
CA394193262 rs368173900	80	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA7810870 rs368173900	80	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1231438452 CA394193268	80	P>T		No	ClinGen TOPMed
rs765189288 CA7810869	81	K>R		No	ClinGen ExAC gnomAD
CA7810868 rs759683749	83	I>T		No	ClinGen ExAC gnomAD
CA394193216 rs1307399643	85	H>R		No	ClinGen gnomAD
RCV001120129 CA7810867 RCV001856576 rs374263832	85	H>Y		No	ClinGen ClinVar ESP ExAC dbSNP gnomAD
rs771534408 CA394193204	86	N>S		No	ClinGen ExAC gnomAD
rs771534408 CA7810866	86	N>T		No	ClinGen ExAC gnomAD
rs1161063400 CA394193197 RCV001317640	87	E>K		No	ClinGen ClinVar dbSNP gnomAD
CA394193174 rs1457268043	88	K>N		No	ClinGen TOPMed gnomAD
CA394193170 rs1423608990	89	L>F		No	ClinGen gnomAD
rs1596224645 CA394193158	90	L>R		No	ClinGen Ensembl
CA7810864 rs773700515	91	S>F		No	ClinGen ExAC TOPMed gnomAD
CA394193145 rs1161762057	92	L>F		No	ClinGen gnomAD
rs1417753527 CA394193113	94	Y>*		No	ClinGen gnomAD
rs906282742 CA276683471	96	S>I		No	ClinGen Ensembl
CA394193022 rs1555465963 RCV000523128	99	Y>H		No	ClinGen ClinVar Ensembl dbSNP
CA394193011 rs1261008899	100	D>N		No	ClinGen gnomAD
rs1045935499 CA276683468	106	L>P		No	ClinGen gnomAD
rs1045935499 CA394192936	106	L>Q		No	ClinGen gnomAD
rs1315354618 CA394192887	111	E>K		No	ClinGen gnomAD
CA394192873 rs1381111036	112	R>Q		No	ClinGen TOPMed gnomAD
CA394192875 rs1454222473	112	R>W		No	ClinGen TOPMed gnomAD
CA7810829 rs760871410	113	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1333850529 CA394192867	113	R>W		No	ClinGen TOPMed gnomAD
CA276683452 rs924786612	115	N>S		No	ClinGen TOPMed
rs1166263818 CA394192832	116	H>Q		No	ClinGen TOPMed gnomAD
RCV002278426 rs201003681 RCV000344700 RCV001510240 CA7810828	117	T>M		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs760386183 CA7810802	118	A>T		No	ClinGen ExAC gnomAD
CA7810801 rs772765858	120	R>Q		No	ClinGen ExAC TOPMed gnomAD
COSM3402094 CA276683100 rs763806969	120	R>W	central_nervous_system [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA394192712 rs1225191254	123	E>*		No	ClinGen TOPMed gnomAD
COSM701907 rs748053318 CA7810799	123	E>G	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA394192713 rs1225191254	123	E>Q		No	ClinGen TOPMed gnomAD
rs1032079176 CA276683098	124	I>T		No	ClinGen Ensembl
CA394192701 rs1451108389	124	I>V		No	ClinGen TOPMed
TCGA novel	125	K>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA394192683 rs1299906997	125	K>N		No	ClinGen TOPMed
CA394192679 rs1362834202	126	R>C		No	ClinGen TOPMed
rs1201465216 CA394192678	126	R>H		No	ClinGen gnomAD
rs1214176986 CA394192670	127	W>G		No	ClinGen TOPMed
CA394192658 rs1476785217	128	V>L		No	ClinGen gnomAD
CA394192640 rs1245613157	129	I>M		No	ClinGen TOPMed gnomAD
CA276683091 rs1028581657	132	L>F		No	ClinGen TOPMed gnomAD
CA394192625 rs1028581657	132	L>I		No	ClinGen TOPMed gnomAD
CA394192620 rs1448304600	133	I>L		No	ClinGen gnomAD
rs768525131 CA7810797	133	I>T		No	ClinGen ExAC TOPMed gnomAD
CA276683086 rs986070320	136	L>F		No	ClinGen TOPMed gnomAD
rs986070320 CA394192591	136	L>V		No	ClinGen TOPMed gnomAD
rs1474822482 CA394192580	137	T>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1253721352 CA394192561	139	L>F		No	ClinGen TOPMed gnomAD
CA394192551 rs1222194724	140	V>M		No	ClinGen gnomAD
CA7810794 rs535022444	143	F>L		No	ClinGen 1000Genomes ExAC gnomAD
rs746088004 CA7810793	144	I>V		No	ClinGen ExAC gnomAD
CA7810791 rs757310326	146	I>T		No	ClinGen ExAC gnomAD
CA394192484 rs1318335217	146	I>V		No	ClinGen gnomAD
CA7810789 rs764560333	147	V>M		No	ClinGen ExAC gnomAD
rs1596223917 CA394192466	148	V>L		No	ClinGen Ensembl
rs1423860962 CA394192457	149	E>K		No	ClinGen gnomAD
rs753054772 CA7810787	150	N>I		No	ClinGen ExAC gnomAD
CA394192441 rs753054772	150	N>S		No	ClinGen ExAC gnomAD
CA394192435 rs1323190910	151	L>V		No	ClinGen TOPMed
CA394192407 rs1345842000	154	L>V		No	ClinGen TOPMed
rs887217533 CA276683066	155	K>R		No	ClinGen Ensembl
CA7810784 rs772746271	156	Y>*		No	ClinGen ExAC gnomAD
rs767015118 CA7810783	157	R>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1596223876 CA394192361	158	V>G		No	ClinGen Ensembl
rs761253697 CA7810782	158	V>I		No	ClinGen ExAC gnomAD
CA7810750 rs140315822	163	I>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1324258393 CA394192260	163	I>T		No	ClinGen TOPMed
rs112711601 CA276682851	165	K>R		No	ClinGen TOPMed gnomAD
CA7810747 rs780537814	168	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA7810746 rs756849986	168	E>V		No	ClinGen ExAC TOPMed gnomAD
rs1471909748 CA394192213	169	K>M		No	ClinGen gnomAD
CA7810744 rs763652763	171	G>R		No	ClinGen ExAC TOPMed gnomAD
CA394192196 rs1265340130	172	L>P		No	ClinGen gnomAD
rs1567272107 CA394192198	172	L>V		No	ClinGen Ensembl
rs1486276846 CA394192190	173	S>F		No	ClinGen gnomAD
CA7810743 rs762586374	173	S>P		No	ClinGen ExAC gnomAD
RCV002556521 rs752298744 CA7810742 RCV001118589	174	F>S		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA7810741 rs765066490	175	S>C		No	ClinGen ExAC gnomAD
rs765066490 CA394192179	175	S>Y		No	ClinGen ExAC gnomAD
CA394192147 rs1323003766	180	A>G		No	ClinGen TOPMed gnomAD
CA394192146 rs1323003766	180	A>V		No	ClinGen TOPMed gnomAD
CA7810735 rs373756735	181	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs749870443 CA7810731	184	A>T		No	ClinGen ExAC TOPMed gnomAD
rs200960952 CA7810729	185	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA7810728 rs147280414	186	F>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7810726 rs758175539	187	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA394192105 rs1204230416	188	L>I		No	ClinGen gnomAD
rs764870423 CA7810724	189	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA276682769 rs1013856684 COSM701908	190	G>D	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated Ensembl NCI-TCGA
CA394192094 rs1269819774	190	G>S		No	ClinGen TOPMed
rs766039100 CA7810721	193	I>T		No	ClinGen ExAC TOPMed gnomAD
rs760492474 CA7810720	194	V>M		No	ClinGen ExAC TOPMed gnomAD
CA394192048 rs1252471692	197	I>T		No	ClinGen TOPMed
rs374764558 CA276682762	198	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA7810719 rs374764558	198	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA7810687 rs748807833	199	P>L		No	ClinGen ExAC gnomAD
TCGA novel	199	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs779595100 CA7810686	202	A>T		No	ClinGen ExAC gnomAD
CA394192006 rs1366250568	202	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	204	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1403807177 CA394191991	205	G>R		No	ClinGen TOPMed gnomAD
CA7810684 rs750362202	206	I>L		No	ClinGen ExAC
TCGA novel	208	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1596222003 CA394191917	215	G>V		No	ClinGen Ensembl
rs988222717 CA276682105	219	P>S		No	ClinGen TOPMed gnomAD
rs1246782459 CA394191887	220	H>Y		No	ClinGen gnomAD
CA7810677 rs765414526	221	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1289649075 CA394191876	222	V>M		No	ClinGen gnomAD
CA7810675 rs777300281	223	R>W		No	ClinGen ExAC gnomAD
rs1287062379 CA394191864	224	L>F		No	ClinGen TOPMed gnomAD
rs771383084 CA394191860	225	K>E		No	ClinGen ExAC gnomAD
CA7810674 rs771383084	225	K>Q		No	ClinGen ExAC gnomAD
CA394191855 rs1352884655	225	K>T		No	ClinGen TOPMed
CA7810644 rs779246889	226	T>K		No	ClinGen ExAC TOPMed gnomAD
CA7810643 rs779246889 RCV001294494	226	T>M		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs753953914 CA7810640	228	V>A		No	ClinGen ExAC gnomAD
CA7810637 rs750905731	229	I>M		No	ClinGen ExAC gnomAD
rs756574078 CA7810638	229	I>T		No	ClinGen ExAC gnomAD
rs759347236 CA276679219	230	K>E		No	ClinGen gnomAD
CA394191238 rs1436335801	233	G>D		No	ClinGen TOPMed
rs774749842 RCV001115424 RCV001316502 CA7810634	233	G>S		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA394191223 rs1596220689	235	I>M		No	ClinGen Ensembl
CA276679203 rs1017704127	237	S>A		No	ClinGen TOPMed
rs866033819 CA276679202	237	S>F		No	ClinGen Ensembl
CA7810632 rs759253716	239	V>I		No	ClinGen ExAC TOPMed gnomAD
CA7810630 rs770362140	241	G>D		No	ClinGen ExAC gnomAD
CA7810627 rs772087883	243	A>V		No	ClinGen ExAC gnomAD
rs749523800 CA7810623	244	V>A		No	ClinGen ExAC gnomAD
CA7810624 rs373322071	244	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA394191141 rs1209605608	248	G>W		No	ClinGen TOPMed
CA7810582 rs746111460	250	M>T		No	ClinGen ExAC gnomAD
CA394191098 rs1251757740	254	G>A		No	ClinGen TOPMed
CA394191097 rs1251757740	254	G>V		No	ClinGen TOPMed
rs200451681 CA7810580	256	V>M		No	ClinGen 1000Genomes ExAC gnomAD
rs758953225 CA7810577	259	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs779400708 CA7810575	260	G>R		No	ClinGen ExAC gnomAD
CA394191025 rs1433553110	266	S>*		No	ClinGen gnomAD
CA7810574 rs755655596	267	T>A		No	ClinGen ExAC gnomAD
rs1173635757 CA394191019	267	T>M		No	ClinGen TOPMed gnomAD
rs761436699 CA7810571	270	K>N		No	ClinGen ExAC gnomAD
rs751150295 CA7810570	271	R>*		No	ClinGen ExAC gnomAD
rs541169535 CA7810569	271	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1410241307 CA394190996	272	D>H		No	ClinGen TOPMed
rs775085622 COSM2151996 CA7810568 RCV001339340 RCV001120327	274	K>R	Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs775085622 CA7810567	274	K>T		No	ClinGen ExAC TOPMed gnomAD
CA394190500 rs776459030	276	F>L		No	ClinGen ExAC gnomAD
rs762061326 CA276677974	278	Y>*		No	ClinGen gnomAD
CA394190459 rs1395527274 RCV001120326 RCV002556579	280	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ClinVar NCI-TCGA dbSNP gnomAD
rs1459410363 CA394190449	281	R>K		No	ClinGen gnomAD
rs1187107214 CA394190434	282	D>G		No	ClinGen gnomAD
CA394190441 rs1415631084	282	D>N		No	ClinGen gnomAD
rs1253332600 CA394190421	284	E>K		No	ClinGen gnomAD
CA394190371 rs368342297 CA394190370	288	F>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA394190352 rs923808258	291	A>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs923808258 CA276677959	291	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs866442870 CA276677957	292	G>W		No	ClinGen Ensembl
CA394190334 rs1331861099	293	A>S		No	ClinGen TOPMed gnomAD
rs1331861099 CA394190337	293	A>T		No	ClinGen TOPMed gnomAD
CA394190323 rs1325736301 COSM3690759	294	A>V	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA394190312 rs1427304156	295	A>D		No	ClinGen TOPMed
TCGA novel	295	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1164202590 CA394190310	296	G>R		No	ClinGen gnomAD
rs769080435 CA7810540	297	V>L		No	ClinGen ExAC gnomAD
CA394190278 rs1469335898	300	A>T		No	ClinGen gnomAD
CA276677945 rs199613161	300	A>V		No	ClinGen 1000Genomes TOPMed gnomAD
rs1467468428 CA394190247	303	A>S		No	ClinGen gnomAD
CA276677938 rs558354107	305	V>M		No	ClinGen 1000Genomes gnomAD
RCV000788792 CA394190152 rs1596218683	306	G>V		No	ClinGen ClinVar Ensembl dbSNP
CA394190137 rs1275680536	308	V>I		No	ClinGen gnomAD
COSM3817245 CA7810507 rs764097491	310	F>L	breast [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA394190048 rs1213940371	315	G>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1295022358 CA394190022	317	S>F		No	ClinGen gnomAD
TCGA novel	318	F>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs776176305 CA394189984	321	Q>H		No	ClinGen ExAC TOPMed
RCV001174985 rs2038825233	324	T>I		No	ClinVar dbSNP
rs201377067 CA7810503	326	R>K		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	326	R>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs776917548	327	I>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA394189942 rs776917548	327	I>M		No	ClinGen ExAC gnomAD
CA7810482 rs773905347	333	I>V		No	ClinGen ExAC gnomAD
CA394189879 rs1334003772	335	T>M		No	ClinGen TOPMed gnomAD
rs1334003772 CA394189878	335	T>R		No	ClinGen TOPMed gnomAD
CA394189865 rs1268246721	337	T>N		No	ClinGen gnomAD
CA394189841 rs1314588897	341	V>I		No	ClinGen gnomAD
CA7810481 rs768337253	344	I>F		No	ClinGen ExAC gnomAD
CA394189810 rs1324166271	345	Y>*		No	ClinGen gnomAD
CA7810480 rs200937692	346	H>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1373666632 CA394189804	346	H>R		No	ClinGen gnomAD
CA7810478 rs769710386	349	M>I		No	ClinGen ExAC gnomAD
rs1440862901 CA394189783	349	M>T		No	ClinGen TOPMed gnomAD
CA7810477 rs745796182	351	D>N		No	ClinGen ExAC TOPMed gnomAD
CA394189754 rs1376175341	353	S>F		No	ClinGen TOPMed
rs1471037574 CA394189742	355	P>S		No	ClinGen TOPMed
CA394189720 rs1435067199	358	I>M		No	ClinGen gnomAD
CA394189701 rs1467842429	361	G>E		No	ClinGen gnomAD
rs528134862 CA7810473	361	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs758753035 CA7810472	362	R>K		No	ClinGen ExAC gnomAD
CA7810470 rs765414475	365	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA394189670 rs1363926234	366	E>K		No	ClinGen gnomAD
rs1379676342 CA394189644	367	K>N		No	ClinGen TOPMed
TCGA novel CA394189636 rs775143967 CA7810441	368	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC TOPMed gnomAD NCI-TCGA
rs1475942268 CA394189642	368	M>L		No	ClinGen gnomAD
rs772332379 CA7810440	369	A>V		No	ClinGen ExAC gnomAD
CA394189613 rs1339113016	372	I>F		No	ClinGen gnomAD
CA394189614 rs1339113016	372	I>V		No	ClinGen gnomAD
CA394189606 rs1235674326	373	H>Y		No	ClinGen gnomAD
rs1410701535 CA394189586	375	I>M		No	ClinGen gnomAD
CA394189592 rs1292698143	375	I>V		No	ClinGen gnomAD
rs772016816 CA7810434	376	P>L		No	ClinGen ExAC TOPMed gnomAD
rs779244927 CA7810432	378	F>L		No	ClinGen ExAC gnomAD
rs768971657 RCV002522816 CA7810431 RCV000361717	379	I>V		No	ClinGen ClinVar ExAC dbSNP gnomAD
CA276676913 rs887864779	380	A>G		No	ClinGen Ensembl
RCV001856573 rs553977226 RCV001120016 CA7810429	380	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD
TCGA novel	380	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1470168714 CA394189553	381	M>R		No	ClinGen gnomAD
CA394189555 rs1470168714	381	M>T		No	ClinGen gnomAD
CA7810427 COSM1708616 rs750938268	381	M>V	skin [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA7810425 rs757590102	383	V>L		No	ClinGen ExAC gnomAD
rs757590102 COSM1637474 CA394189543	383	V>M	Variant assessed as Somatic; 0.0 impact. bone [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs771365308	385	G>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs1242987187 CA394189448	386	G>D		No	ClinGen TOPMed
CA7810387 rs541028244	386	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1242987187 CA394189446	386	G>V		No	ClinGen TOPMed
rs1350110258 CA394189442	387	V>A		No	ClinGen TOPMed
CA7810385 rs368848461	387	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA394189445 rs368848461	387	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA394189430 rs1215110284	389	G>A		No	ClinGen gnomAD
rs374766870 CA7810381	391	V>A		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	391	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA394189421 rs1268323382	391	V>L		No	ClinGen gnomAD
CA276676398 rs1024724740	393	N>S		No	ClinGen TOPMed
CA276676394 rs943361069	394	A>S		No	ClinGen TOPMed
rs1250916342 CA394189398	394	A>V		No	ClinGen TOPMed
TCGA novel	395	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA394189394 rs1375247394	395	L>S		No	ClinGen gnomAD
rs1179207288 CA394189389	396	N>D		No	ClinGen TOPMed
rs1418047459 CA394189371	398	W>*		No	ClinGen gnomAD
rs757198557 CA7810379	398	W>C		No	ClinGen ExAC gnomAD
rs1379115555 CA394189365	399	L>V		No	ClinGen TOPMed
rs1259621965 CA394189353	401	M>K		No	ClinGen TOPMed gnomAD
rs1259621965 CA394189352	401	M>T		No	ClinGen TOPMed gnomAD
CA7810377 rs763753568	401	M>V		No	ClinGen ExAC gnomAD
CA7810376 RCV000778456 rs200789982	403	R>*		No	ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD
CA7810375 rs765444328	403	R>P		No	ClinGen ExAC gnomAD
rs1177824805 CA394189301	407	I>S		No	ClinGen gnomAD
CA394189295 rs1596215927	408	H>P		No	ClinGen Ensembl
rs1018561800 CA276675559	408	H>Y		No	ClinGen Ensembl
rs1253129482 CA394189289	409	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs770753798 CA7810345	410	P>L		No	ClinGen ExAC gnomAD
rs746526523 CA7810344	414	V>A		No	ClinGen ExAC
CA394189260 rs1217522933	414	V>M		No	ClinGen gnomAD
rs1314720299 CA394189251	415	I>T		No	ClinGen gnomAD
CA7810342 rs149031035	417	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA394189234 rs12926089	418	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1172502299 CA394189223	420	V>E		No	ClinGen TOPMed
CA394189224 CA394189225 rs753684336	420	V>L		No	ClinGen ExAC TOPMed gnomAD
CA7810339 rs753684336	420	V>M		No	ClinGen ExAC TOPMed gnomAD
CA394189214 rs1360191307	422	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs377299832 CA7810337	423	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1435171864 CA394189198	424	T>M		No	ClinGen gnomAD
CA394189175 rs1432475602	428	A>G		No	ClinGen gnomAD
rs1191679982 CA394189179	428	A>T		No	ClinGen gnomAD
CA394189166 rs1261855596	429	F>L		No	ClinGen TOPMed gnomAD
rs767504116 CA394189165	430	V>L		No	ClinGen ExAC TOPMed gnomAD
rs767504116 CA7810335	430	V>M		No	ClinGen ExAC TOPMed gnomAD
CA276675527 rs1054593112	431	L>M		No	ClinGen TOPMed gnomAD
rs775029101 CA394189142	433	Y>*		No	ClinGen ExAC gnomAD
rs769326220 CA7810332	434	S>L		No	ClinGen ExAC gnomAD
CA394189131 rs1382966039	435	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA394189135 rs1327567550	435	S>P		No	ClinGen gnomAD
CA7810327 rs553904081 RCV001856556 RCV001118496	436	R>Q		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA7810328 rs746656282	436	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1313723622 CA394189127	437	D>N		No	ClinGen gnomAD
CA276675507 rs971904591	439	Q>*		No	ClinGen TOPMed
rs1465333844 CA394189091	442	Q>*		No	ClinGen gnomAD
rs1373622475 CA394189086	442	Q>H		No	ClinGen gnomAD
rs1172441331 CA394189085	443	G>R		No	ClinGen TOPMed gnomAD
TCGA novel	444	G>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs754968460 CA7810323	444	G>C		No	ClinGen ExAC TOPMed gnomAD
rs1261762692 CA394189069	445	S>F		No	ClinGen gnomAD
CA394189061 rs1486424529	446	M>I		No	ClinGen gnomAD
rs779826360 CA7810320	446	M>V		No	ClinGen ExAC TOPMed gnomAD
rs1254918192 CA394189051	448	Y>S		No	ClinGen gnomAD
CA7810318 rs750628872	449	P>L		No	ClinGen ExAC TOPMed gnomAD
CA7810319 rs750628872	449	P>Q		No	ClinGen ExAC TOPMed gnomAD
CA276675503 rs750628872	449	P>R		No	ClinGen ExAC TOPMed gnomAD
CA7810282 rs781106093	452	L>F		No	ClinGen ExAC TOPMed gnomAD
CA394188329 rs781106093	452	L>V		No	ClinGen ExAC TOPMed gnomAD
RCV001009188 rs1322266202	453	F>missing		No	ClinVar dbSNP
TCGA novel	454	C>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	454	C>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7810281 rs771221831	455	A>V		No	ClinGen ExAC gnomAD
CA7810279 rs557270746	456	D>E		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	456	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA394188255 rs1396008150	458	E>K		No	ClinGen gnomAD
CA394188196 rs1194051738	462	M>I		No	ClinGen gnomAD
CA394188200 rs1246603037	462	M>T		No	ClinGen gnomAD
CA276674646 rs936755556	462	M>V		No	ClinGen TOPMed gnomAD
CA7810276 rs779277253	464	A>V		No	ClinGen ExAC gnomAD
CA394188109 rs1342839139	469	T>S		No	ClinGen gnomAD
rs1413976002 CA394188105	470	P>A		No	ClinGen TOPMed
rs761401489 CA7810271	470	P>L		No	ClinGen ExAC TOPMed gnomAD
CA394188078 rs1327676947	472	K>E		No	ClinGen gnomAD
COSM967303 rs775122102 CA7810266	474	V>M	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1413097834 CA394188038	475	V>L		No	ClinGen gnomAD
rs1168990979 CA394188020	476	S>N		No	ClinGen gnomAD
CA394187988 rs1193248892	480	D>E		No	ClinGen gnomAD
rs745692284 CA394187994	480	D>H		No	ClinGen ExAC TOPMed gnomAD
rs745692284 CA7810262	480	D>N		No	ClinGen ExAC TOPMed gnomAD
rs375552320 CA7810261	481	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1301654455 CA394187985	481	P>S		No	ClinGen TOPMed
CA394187864 rs1218973895	484	S>F		No	ClinGen gnomAD
rs1489998598 CA394187836 CA394187835	486	N>K		No	ClinGen TOPMed
rs371746274 CA7810202	487	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA7810201 rs202022689 RCV000895479	488	L>Q		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA7810199 rs367805626	491	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs367805626 CA7810198	491	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA394187781 rs1387280411	492	L>V		No	ClinGen TOPMed
rs199917673 CA276673510	494	T>A		No	ClinGen Ensembl
rs1018009699 CA276673508	494	T>M		No	ClinGen TOPMed gnomAD
CA394187734 rs1457451446	496	V>A		No	ClinGen gnomAD
CA394187723 rs1161547013	497	Y>C		No	ClinGen TOPMed gnomAD
CA7810195 rs754657236	499	F>L		No	ClinGen ExAC gnomAD
rs766003053 CA7810193	505	Y>C		No	ClinGen ExAC gnomAD
rs750415617 CA7810191	506	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA276673436 rs955127068	508	T>M		No	ClinGen TOPMed gnomAD
rs891494331 CA276673423	509	V>L		No	ClinGen gnomAD
rs891494331 CA394187582	509	V>M		No	ClinGen gnomAD
rs763164345 CA7810186	512	G>R		No	ClinGen ExAC gnomAD
rs1362667497 CA394187541	514	F>S		No	ClinGen gnomAD
rs371736537 CA7810185	516	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1157872422 CA394187521	517	S>C		No	ClinGen gnomAD
rs1437801106 CA394187517	518	L>Q		No	ClinGen TOPMed
CA7810182 rs777100752	519	L>F		No	ClinGen ExAC gnomAD
rs1419536926 CA394187507	520	I>F		No	ClinGen gnomAD
CA394187500 rs1261991162	521	G>E		No	ClinGen gnomAD
rs768299401 CA7810178	522	A>P		No	ClinGen ExAC gnomAD
rs768299401 CA394187497	522	A>T		No	ClinGen ExAC gnomAD
rs369173317 CA7810175	528	F>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs1340187547 CA394187455	528	F>L		No	ClinGen gnomAD
CA394187452 rs1313701099	529	G>E		No	ClinGen gnomAD
TCGA novel	529	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs749998679 CA7810174	529	G>W		No	ClinGen ExAC
CA7810173 rs781172012	530	I>L		No	ClinGen ExAC gnomAD
rs751302188 CA7810171	533	S>A		No	ClinGen ExAC gnomAD
CA394187431 rs751302188	533	S>P		No	ClinGen ExAC gnomAD
rs985218673 CA276673340	534	Y>C		No	ClinGen Ensembl
CA7810170 rs763808046	535	L>I		No	ClinGen ExAC TOPMed gnomAD
CA7810169 rs763111215	536	T>M		No	ClinGen ExAC TOPMed gnomAD
CA394187408 rs1188138778	537	G>E		No	ClinGen gnomAD
CA7810165 rs776642923	537	G>R		No	ClinGen ExAC gnomAD
rs548941878 CA7810163	538	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed
rs773580982 CA7810161	539	A>V		No	ClinGen ExAC TOPMed gnomAD
rs762251819 CA7810140	540	I>M		No	ClinGen ExAC TOPMed gnomAD
CA394187172 rs1247770628	541	W>*		No	ClinGen gnomAD
rs774920565 CA7810139	542	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1266945568 CA394187155	543	D>N		No	ClinGen gnomAD
rs866325373 CA276669719	545	G>D		No	ClinGen Ensembl
CA394187116 rs1287838939	547	Y>*		No	ClinGen TOPMed gnomAD
rs1354175976 CA394187119	547	Y>C		No	ClinGen TOPMed gnomAD
CA394187114 rs1237646633	548	A>T		No	ClinGen TOPMed gnomAD
CA7810134 rs746579595	551	G>R		No	ClinGen ExAC gnomAD
CA394187033 rs1438074380	556	L>V		No	ClinGen gnomAD
CA394187023 rs1328785025	557	G>C		No	ClinGen gnomAD
TCGA novel	558	G>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1180615464 COSM967302 CA394186968	558	G>R	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs767717748 CA7810106	560	V>A		No	ClinGen ExAC gnomAD
rs1181205090 CA394186945	560	V>L		No	ClinGen Ensembl
CA7810102 rs554219137	568	V>I		No	ClinGen 1000Genomes ExAC gnomAD
CA7810101 RCV001115340 rs753172781	569	I>V		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA7810099 rs760390470	574	T>A		No	ClinGen ExAC gnomAD
CA7810097 rs771604430	577	V>M		No	ClinGen ExAC TOPMed gnomAD
rs779900843 CA7810092	584	M>I		No	ClinGen ExAC
CA7810093 rs749027624	584	M>V		No	ClinGen ExAC TOPMed gnomAD
rs746112826 CA7810090	588	M>R		No	ClinGen ExAC TOPMed gnomAD
CA394186632 rs746112826	588	M>T		No	ClinGen ExAC TOPMed gnomAD
CA394186638 rs1227027091	588	M>V		No	ClinGen gnomAD
CA276669444 rs377190713	590	A>T		No	ClinGen ESP TOPMed gnomAD
CA394186604 rs1374811490	590	A>V		No	ClinGen gnomAD
rs778420950 CA7810086	593	V>M		No	ClinGen ExAC gnomAD
CA394186549 rs1162943930	595	D>N		No	ClinGen TOPMed gnomAD
CA394186532 rs1159210965	596	V>A		No	ClinGen gnomAD
CA7810083 rs200121444	596	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA7810082 rs760207641	598	I>T		No	ClinGen ExAC gnomAD
CA276669073 rs956317489	603	D>G		No	ClinGen TOPMed
CA7810044 rs200917404	603	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA394186424 rs200917404	603	D>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1596211959 CA394186402	606	I>V		No	ClinGen Ensembl
CA7810039 rs752207159	608	L>P		No	ClinGen ExAC gnomAD
rs759560642 CA394186361	612	P>A		No	ClinGen ExAC gnomAD
TCGA novel	612	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs759560642 CA7810037	612	P>T		No	ClinGen ExAC gnomAD
rs1468841343 CA394186355	613	F>L		No	ClinGen TOPMed gnomAD
rs1468841343 CA394186354	613	F>V		No	ClinGen TOPMed gnomAD
CA276669024 rs1000353389	614	L>M		No	ClinGen TOPMed
rs370045081 CA7810036	615	H>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA394186315 rs1172405958	618	A>V		No	ClinGen gnomAD
CA394186309 rs1372117927	619	P>L		No	ClinGen TOPMed gnomAD
rs773464510 CA7810033	622	S>T		No	ClinGen ExAC gnomAD
rs1183455019 CA394186291	623	H>Y		No	ClinGen gnomAD
rs1312000540 CA394186278	624	S>L		No	ClinGen TOPMed
CA7810032 rs772244670	626	T>S		No	ClinGen ExAC TOPMed gnomAD
rs1203259231 CA394186231	630	V>G		No	ClinGen gnomAD
rs751747803 CA7809994	630	V>L		No	ClinGen ExAC TOPMed gnomAD
rs751747803 CA394186233	630	V>M		No	ClinGen ExAC TOPMed gnomAD
CA7809992 rs763006305	631	M>I		No	ClinGen ExAC gnomAD
CA394186226 rs1274966207	631	M>L		No	ClinGen gnomAD
CA394186198 rs1596211609	635	V>L		No	ClinGen Ensembl
CA7809990 rs770278692	636	T>I		No	ClinGen ExAC TOPMed gnomAD
rs202148733 CA276668776	639	R>K		No	ClinGen 1000Genomes
CA7809989 rs536765749	639	R>S		No	ClinGen 1000Genomes ExAC
CA394186168 rs1403499328	640	R>Q		No	ClinGen gnomAD
CA394186170 rs1400598641	640	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA7809988 rs370109321	641	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs141991492 CA7809986	641	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs141991492 CA7809987	641	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs376096625 CA394186150	643	K>N		No	ClinGen ESP ExAC gnomAD
CA276668753 rs1037682766	643	K>T		No	ClinGen Ensembl
rs370657753 CA7809982	645	G>C		No	ClinGen 1000Genomes ExAC gnomAD
CA7809983 rs370657753	645	G>S		No	ClinGen 1000Genomes ExAC gnomAD
CA7809979 rs375096271	646	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA7809980 rs375096271	646	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs756978484 CA7809978	647	I>V		No	ClinGen ExAC gnomAD
CA276668704 rs990895217	648	V>M		No	ClinGen Ensembl
CA7809977 rs547786206	649	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1262139884 CA394186112	650	V>A		No	ClinGen gnomAD
CA394186114 rs1320715848	650	V>L		No	ClinGen TOPMed gnomAD
CA394186116 rs1320715848	650	V>M		No	ClinGen TOPMed gnomAD
rs758623954 CA7809975	652	S>N		No	ClinGen ExAC TOPMed gnomAD
CA7809973 rs765264888	653	D>N		No	ClinGen ExAC TOPMed gnomAD
CA7809972 RCV001121922 RCV000224650 rs114827619	654	T>M		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA394186087 rs114827619	654	T>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1468307771 CA394186081	655	A>V		No	ClinGen gnomAD
rs1467415380 CA394186073	657	N>D		No	ClinGen gnomAD
rs1596211495 CA394186070	657	N>S		No	ClinGen Ensembl
CA394186062 rs1417608149	658	H>R		No	ClinGen TOPMed gnomAD
rs377646655 CA394186049	660	G>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA7809965 rs377646655	660	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA7809964 rs769158352	662	P>T		No	ClinGen ExAC TOPMed gnomAD
CA394186032 rs1198692603	663	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA394186021 rs1596211475	664	V>G		No	ClinGen Ensembl
CA394186014 rs1270436658	665	E>D		No	ClinGen TOPMed gnomAD
CA394186008 rs1596211465 COSM1640399	666	H>R	stomach [Cosmic]	No	ClinGen cosmic curated Ensembl
rs1214352549 CA394186001	667	A>V		No	ClinGen gnomAD
rs142186742 CA7809960	668	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA394185984 rs1451045230	669	D>E		No	ClinGen TOPMed gnomAD
CA394185983 rs1596211437	670	T>P		No	ClinGen Ensembl
rs1382653825 CA394185979	670	T>S		No	ClinGen gnomAD
CA394185956 rs1343341449	672	P>A		No	ClinGen TOPMed gnomAD
CA394185952 rs1157804377	672	P>L		No	ClinGen gnomAD
CA394185955 rs1343341449	672	P>S		No	ClinGen TOPMed gnomAD
rs1414538678 CA394185950	673	A>P		No	ClinGen TOPMed gnomAD
rs1414538678 CA394185951	673	A>T		No	ClinGen TOPMed gnomAD
CA394185948 rs1430982446	673	A>V		No	ClinGen gnomAD
RCV001882397 RCV001121919 rs758816489 CA7809934	674	R>L		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA7809935 rs758816489	674	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA7809936 rs753799531	674	R>W		No	ClinGen ExAC TOPMed gnomAD
RCV000292653 CA10647024 rs886051700	676	Q>H		No	ClinGen ClinVar Ensembl dbSNP
CA394185934 rs1188626074	676	Q>R		No	ClinGen TOPMed gnomAD
CA394185905 COSM87989 rs1210998009	681	R>C	central_nervous_system [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA394185904 rs1325683824	681	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs750932924 CA7809933	686	V>I		No	ClinGen ExAC TOPMed gnomAD
CA276668159 rs977283828	687	L>F		No	ClinGen TOPMed gnomAD
CA276668157 rs968607682	688	L>V		No	ClinGen TOPMed
RCV000761926 rs11559208 CA276668156	691	K>E		No	ClinGen ClinVar Ensembl dbSNP
TCGA novel	692	V>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs781763863 CA7809915	692	V>M		No	ClinGen ExAC gnomAD
rs956955455 CA276668095	694	V>M		No	ClinGen Ensembl
rs1479554082 CA394185807	695	E>K		No	ClinGen gnomAD
rs1032308852 CA276668092	696	R>L		No	ClinGen TOPMed gnomAD
rs1032308852 CA394185797	696	R>Q		No	ClinGen TOPMed gnomAD
rs1222925593 CA394185799	696	R>W		No	ClinGen gnomAD
CA394185794 rs1244613504	697	S>P		No	ClinGen gnomAD
rs1308731255 CA394185784	698	N>I		No	ClinGen gnomAD
CA394185771 rs1596210657	700	G>V		No	ClinGen Ensembl
rs1426939582 CA394185765	702	V>I		No	ClinGen gnomAD
CA276668083 rs1051589129	704	R>L		No	ClinGen TOPMed gnomAD
rs1051589129 CA394185750	704	R>Q		No	ClinGen TOPMed gnomAD
RCV001119940 rs375281048 CA7809912 RCV002069948	704	R>W		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs763267020 CA7809911	705	R>C		No	ClinGen ExAC TOPMed gnomAD
CA276668081 rs370865246	705	R>H		No	ClinGen ESP TOPMed gnomAD
rs1269856610 CA394185714	710	D>V		No	ClinGen gnomAD
rs368724913 CA276668080	712	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA7809909 rs368724913	712	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA7809908 rs760171498	712	R>Q		No	ClinGen ExAC gnomAD
CA394185694 rs200812045	713	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs767382071 CA7809906	714	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
COSM967291 rs1336593109 CA394185689	714	A>V	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA7809904 rs773973071	717	R>C		No	ClinGen ExAC gnomAD
CA10647831 RCV000384564 rs886051699	717	R>H		No	ClinGen ClinVar TOPMed dbSNP
CA394185653 rs1158843661	720	P>R		No	ClinGen gnomAD
rs1421059489 CA394185642	722	Q>*		No	ClinGen gnomAD
CA394185631 rs1343972894	723	S>F		No	ClinGen gnomAD
CA7809901 rs775845218	726	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1387754360 CA394185604	728	Q>*		No	ClinGen gnomAD
CA394185599 rs1156961429	728	Q>L		No	ClinGen gnomAD
CA276668043 rs937106092	730	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs958814324 CA276668037	731	R>G		No	ClinGen TOPMed gnomAD
rs369873953 CA7809899	731	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs958814324 CA394185581	731	R>W		No	ClinGen TOPMed gnomAD
CA276668030 rs949623816	734	T>A		No	ClinGen TOPMed
CA394185553 rs1447569031	735	M>T		No	ClinGen gnomAD
rs1197871022 CA394185556	735	M>V		No	ClinGen gnomAD
CA276668027 rs918083846	737	L>F		No	ClinGen TOPMed gnomAD
rs1202858049 CA394185531	738	S>C		No	ClinGen TOPMed gnomAD
rs1202858049 CA394185530	738	S>F		No	ClinGen TOPMed gnomAD
rs1202858049 CA394185532	738	S>Y		No	ClinGen TOPMed gnomAD
rs757656862 CA7809897	739	E>K		No	ClinGen ExAC gnomAD
rs778191334 CA7809895	745	P>S		No	ClinGen ExAC gnomAD
rs201810925 RCV001316746 CA7809894	747	T>M		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA394185454 rs1406863005	749	P>L		No	ClinGen gnomAD
rs1178634350 CA394185451	750	Q>K		No	ClinGen gnomAD
CA394185412 rs1428864451	752	A>V	Variant assessed as Somatic; 8.008e-05 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs140032494 CA7809864	753	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs376638904 CA7809861	756	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs376638904 CA276667685	756	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs776979076 CA7809862	756	R>W		No	ClinGen ExAC gnomAD
rs1484087364 CA394185336	757	V>A		No	ClinGen TOPMed
CA394185285 rs1205882381	760	L>P		No	ClinGen TOPMed
rs1181912032 CA394185273	761	F>L		No	ClinGen gnomAD
CA394185252 rs121434433	762	R>P		No	ClinGen TOPMed gnomAD
rs111953149 CA276667660	763	A>S		No	ClinGen Ensembl
CA394185227 rs1294613134	764	L>M		No	ClinGen gnomAD
CA7809855 rs768989814	771	V>A		No	ClinGen ExAC gnomAD
CA394185147 rs1159277558	772	V>A		No	ClinGen gnomAD
CA394185151 rs921948553	772	V>L		No	ClinGen TOPMed gnomAD
CA276667622 rs921948553	772	V>M		No	ClinGen TOPMed gnomAD
rs1401870819 CA394185136	773	D>N		No	ClinGen gnomAD
CA7809853 rs144511808	775	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs534953229 CA7809852	775	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA394185093 rs534953229	775	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs751025439 CA7809851	776	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1172932679 CA394184990	778	V>I		No	ClinGen gnomAD
CA394184967 rs1427277978	779	V>F		No	ClinGen gnomAD
CA394184971 rs1427277978	779	V>I		No	ClinGen gnomAD
CA7809826 rs766116666	780	G>R		No	ClinGen ExAC gnomAD
CA394184933 rs1596209724	781	L>V		No	ClinGen Ensembl
rs1009529908 CA276667358	782	V>M		No	ClinGen gnomAD
rs201361839 CA276667352	788	A>T		No	ClinGen 1000Genomes
CA394184817 rs1206285143	788	A>V		No	ClinGen gnomAD
rs1443383234 CA394184793	790	Y>H		No	ClinGen TOPMed
CA7809822 rs761881885	791	R>G		No	ClinGen ExAC gnomAD
CA276667349 rs566172344	791	R>H		No	ClinGen 1000Genomes TOPMed gnomAD
rs774421161 CA7809821	795	R>K		No	ClinGen ExAC gnomAD
CA394184649 rs1596209680	797	L>F		No	ClinGen Ensembl
rs1596209676 CA394184629	798	E>G		No	ClinGen Ensembl
rs1361046004 CA394184638	798	E>Q		No	ClinGen TOPMed
CA276667346 rs868009985	799	E>*		No	ClinGen Ensembl
CA7809819 RCV001882390 RCV001119937 rs184833329	801	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD
CA394184556 rs184833329	801	S>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA276667341 rs917059058	803	A>P		No	ClinGen Ensembl
CA394184491 rs1164752901	804	Q>*		No	ClinGen gnomAD
rs1426672275 CA394184484	804	Q>P		No	ClinGen TOPMed gnomAD
rs992765173 CA276667339	805	T>M		No	ClinGen gnomAD
rs924316093 CA276667319	806	T>R		No	ClinGen Ensembl

3 associated diseases with P51798

[MIM: 611490]: Osteopetrosis, autosomal recessive 4 (OPTB4)

A rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. Osteopetrosis occurs in two forms

[MIM: 166600]: Osteopetrosis, autosomal dominant 2 (OPTA2)

A rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. Osteopetrosis occurs in two forms

[MIM: 618541]: Hypopigmentation, organomegaly, and delayed myelination and development (HOD)

An autosomal dominant pleiotropic syndrome characterized by skin and hair hypopigmentation, growth and developmental delay, organomegaly including enlarged liver, spleen and kidneys, delayed brain myelination and developmental deficit in motor skills. Skin and liver biopsies show cellular accumulation of large intracellular vacuoles. {ECO:0000269|PubMed:31155284}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

A rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. Osteopetrosis occurs in two forms
A rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. Osteopetrosis occurs in two forms
An autosomal dominant pleiotropic syndrome characterized by skin and hair hypopigmentation, growth and developmental delay, organomegaly including enlarged liver, spleen and kidneys, delayed brain myelination and developmental deficit in motor skills. Skin and liver biopsies show cellular accumulation of large intracellular vacuoles. {ECO:0000269|PubMed:31155284}. Note=The disease is caused by variants affecting the gene represented in this entry.

No regional properties for P51798

Type	Name	Position	InterPro Accession
No domain, repeats, and functional sites for P51798

Functions

		Description
EC Number
Subcellular Localization	Lysosome membrane ; Multi-pass membrane protein
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

5 GO annotations of cellular component

Name	Definition
chloride channel complex	An ion channel complex through which chloride ions pass.
cytoplasmic vesicle	A vesicle found in the cytoplasm of a cell.
intracellular membrane-bounded organelle	Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane.
lysosomal membrane	The lipid bilayer surrounding the lysosome and separating its contents from the cell cytoplasm.
membrane	A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.

5 GO annotations of molecular function

Name	Definition
antiporter activity	Enables the active transport of a solute across a membrane by a mechanism whereby two or more species are transported in opposite directions in a tightly coupled process not directly linked to a form of energy other than chemiosmotic energy. The reaction is: solute A(out) + solute B(in) = solute A(in) + solute B(out).
ATP binding	Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
chloride channel activity	Enables the facilitated diffusion of a chloride (by an energy-independent process) involving passage through a transmembrane aqueous pore or channel without evidence for a carrier-mediated mechanism.
chloride transmembrane transporter activity	Enables the transfer of chloride ions from one side of a membrane to the other.
voltage-gated chloride channel activity	Enables the transmembrane transfer of a chloride ion by a voltage-gated channel. A voltage-gated channel is a channel whose open state is dependent on the voltage across the membrane in which it is embedded.

2 GO annotations of biological process

Name	Definition
response to pH	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a pH stimulus. pH is a measure of the acidity or basicity of an aqueous solution.
transepithelial chloride transport	The directed movement of chloride ions from one side of an epithelium to the other.

7 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P51790	CLCN3	H(+)/Cl(-) exchange transporter 3	Homo sapiens (Human)	PR
P51797	CLCN6	H(+)/Cl(-) exchange transporter 6	Homo sapiens (Human)	PR
O35454	Clcn6	H(+)/Cl(-) exchange transporter 6	Mus musculus (Mouse)	PR
Q61418	Clcn4	H(+)/Cl(-) exchange transporter 4	Mus musculus (Mouse)	PR
O70496	Clcn7	H(+)/Cl(-) exchange transporter 7	Mus musculus (Mouse)	PR
P51799	Clcn7	H(+)/Cl(-) exchange transporter 7	Rattus norvegicus (Rat)	PR
P60300	CLC-G	Putative chloride channel-like protein CLC-g	Arabidopsis thaliana (Mouse-ear cress)	PR

10	20	30	40	50	60
MANVSKKVSW	SGRDRDDEEA	APLLRRTARP	GGGTPLLNGA	GPGAARQSPR	SALFRVGHMS
70	80	90	100	110	120
SVELDDELLD	PDMDPPHPFP	KEIPHNEKLL	SLKYESLDYD	NSENQLFLEE	ERRINHTAFR
130	140	150	160	170	180
TVEIKRWVIC	ALIGILTGLV	ACFIDIVVEN	LAGLKYRVIK	GNIDKFTEKG	GLSFSLLLWA
190	200	210	220	230	240
TLNAAFVLVG	SVIVAFIEPV	AAGSGIPQIK	CFLNGVKIPH	VVRLKTLVIK	VSGVILSVVG
250	260	270	280	290	300
GLAVGKEGPM	IHSGSVIAAG	ISQGRSTSLK	RDFKIFEYFR	RDTEKRDFVS	AGAAAGVSAA
310	320	330	340	350	360
FGAPVGGVLF	SLEEGASFWN	QFLTWRIFFA	SMISTFTLNF	VLSIYHGNMW	DLSSPGLINF
370	380	390	400	410	420
GRFDSEKMAY	TIHEIPVFIA	MGVVGGVLGA	VFNALNYWLT	MFRIRYIHRP	CLQVIEAVLV
430	440	450	460	470	480
AAVTATVAFV	LIYSSRDCQP	LQGGSMSYPL	QLFCADGEYN	SMAAAFFNTP	EKSVVSLFHD
490	500	510	520	530	540
PPGSYNPLTL	GLFTLVYFFL	ACWTYGLTVS	AGVFIPSLLI	GAAWGRLFGI	SLSYLTGAAI
550	560	570	580	590	600
WADPGKYALM	GAAAQLGGIV	RMTLSLTVIM	MEATSNVTYG	FPIMLVLMTA	KIVGDVFIEG
610	620	630	640	650	660
LYDMHIQLQS	VPFLHWEAPV	TSHSLTAREV	MSTPVTCLRR	REKVGVIVDV	LSDTASNHNG
670	680	690	700	710	720
FPVVEHADDT	QPARLQGLIL	RSQLIVLLKH	KVFVERSNLG	LVQRRLRLKD	FRDAYPRFPP
730	740	750	760	770	780
IQSIHVSQDE	RECTMDLSEF	MNPSPYTVPQ	EASLPRVFKL	FRALGLRHLV	VVDNRNQVVG
790	800
LVTRKDLARY	RLGKRGLEEL	SLAQT