AiPD: Autoinhibited Protein Database

Q13488

Gene name	TCIRG1 (ATP6N1C, ATP6V0A3)
Protein name	V-type proton ATPase 116 kDa subunit a 3
Names	V-ATPase 116 kDa subunit a 3, Osteoclastic proton pump 116 kDa subunit, OC-116 kDa, OC116, T-cell immune regulator 1, T-cell immune response cDNA7 protein, TIRC7, Vacuolar proton translocating ATPase 116 kDa subunit a isoform 3
Species	Homo sapiens (Human)
KEGG Pathway	hsa:10312
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

634-729 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

634-729 (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 Q13488

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q13488-F1	Predicted				AlphaFoldDB

866 variants for Q13488

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV002537802 RCV001278549 CA6146611 rs768203698	6	R>Q	Autosomal recessive osteopetrosis 1 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001278548 rs563996115 CA6146610 RCV002537801	6	R>W	Autosomal recessive osteopetrosis 1 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD
RCV001278550 CA6146622 RCV002508303 rs377034463	20	A>V	Autosomal recessive osteopetrosis 1 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001859820 COSM544995 rs139397145 RCV000353919 CA6146629	28	R>W	lung Autosomal recessive osteopetrosis 1 [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001880267 rs775576535 CA6146636 RCV001278551	33	G>S	Autosomal recessive osteopetrosis 1 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs370319355 CA6146669 RCV002530672 RCV000666224	50	R>C	Autosomal recessive osteopetrosis 1 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
COSM1582110 RCV001111574 RCV000916912 rs118141250 CA6146672	52	V>L	Autosomal recessive osteopetrosis 1 stomach [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV002278385 RCV000358674 RCV000456098 rs36027301 CA6146675 VAR_054340 RCV001517192	56	R>W	Autosomal recessive osteopetrosis 1 [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001278552 rs150648332 CA381574682	57	R>L	Autosomal recessive osteopetrosis 1 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001856485 RCV001112049 rs1855184602	58	C>R	Autosomal recessive osteopetrosis 1 [ClinVar]	Yes	ClinVar dbSNP
rs886048593 CA10631405 RCV000265048	66	T>I	Autosomal recessive osteopetrosis 1 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV000667217 rs1554995009 CA381575145 RCV001855477	69	Q>*	Autosomal recessive osteopetrosis 1 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000666514 rs1208311085 RCV001855462	81	P>missing	Autosomal recessive osteopetrosis 1 [ClinVar]	Yes	ClinVar dbSNP
COSM4146216 CA202788 rs142855299 RCV000324864 RCV000898643 RCV000178256	83	K>E	Autosomal recessive osteopetrosis 1 thyroid [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs982462013 RCV001278554 CA224202896 RCV002537804	87	P>L	Autosomal recessive osteopetrosis 1 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV001310219 CA224202910 rs908094911	90	P>Q	Autosomal recessive osteopetrosis 1 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV002555085 RCV001112050 rs371907380 CA6146691	92	R>W	Autosomal recessive osteopetrosis 1 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000672867 rs886048594 RCV001850622	102	E>missing	Autosomal recessive osteopetrosis 1 [ClinVar]	Yes	ClinVar dbSNP
CA6146694 RCV000880633 rs771198568 RCV001276531 RCV002539295	103	R>C	Autosomal recessive osteopetrosis 1 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001350219 rs775326246 RCV001831157 CA381575923	103	R>P	Autosomal recessive osteopetrosis 1 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA381576216 RCV000668174 rs1338631330 RCV000798499	116	Q>*	Autosomal recessive osteopetrosis 1 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs377377656 CA224203046 RCV000667355	131	V>M	Autosomal recessive osteopetrosis 1 [ClinVar]	Yes	ClinGen ClinVar ESP TOPMed dbSNP gnomAD
RCV000928293 CA6146707 RCV001273366 rs35354504	138	P>S	Autosomal recessive osteopetrosis 1 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
VAR_020988	141	A>P	OPTB1 [UniProt]	Yes	UniProt
RCV000670435 rs1554995330 CA381576854	156	Q>*	Autosomal recessive osteopetrosis 1 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000906858 rs199632510 CA6146729 RCV000385020	159	G>E	Autosomal recessive osteopetrosis 1 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs1554995350 RCV000674223	160	G>missing	Autosomal recessive osteopetrosis 1 [ClinVar]	Yes	ClinVar dbSNP
rs186758849 RCV000658609 CA203077 RCV001114992 RCV000178911	160	G>E	Autosomal recessive osteopetrosis 1 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000672608 RCV002532130 rs1554995341	161	P>missing	Autosomal recessive osteopetrosis 1 [ClinVar]	Yes	ClinVar dbSNP
RCV000224444 rs34227834 CA6146731 VAR_054341 RCV000290752	161	P>L	Autosomal recessive osteopetrosis 1 [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000674126 CA381576947 rs1385741705	163	Q>*	Autosomal recessive osteopetrosis 1 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
CA381577191 RCV001831059 RCV001340243 rs1375468915	184	R>C	Autosomal recessive osteopetrosis 1 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
RCV001257141 rs1855280375	185	L>missing	Autosomal recessive osteopetrosis 1 [ClinVar]	Yes	ClinVar dbSNP
rs1554995522 RCV000666944	186	L>missing	Autosomal recessive osteopetrosis 1 [ClinVar]	Yes	ClinVar dbSNP
rs867224433 CA10631409 RCV000386032 RCV002520748	191	R>C	Autosomal recessive osteopetrosis 1 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs371658110 CA6146747 RCV001862891 RCV001114994	192	G>S	Autosomal recessive osteopetrosis 1 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs1554995554 RCV000671404	203	Q>missing	Autosomal recessive osteopetrosis 1 [ClinVar]	Yes	ClinVar dbSNP
CA6146749 COSM1188326 RCV000959984 RCV001276537 rs373711940	204	P>L	lung Autosomal recessive osteopetrosis 1 [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA6146753 rs372826788 RCV000664822 RCV002530635	210	T>M	Autosomal recessive osteopetrosis 1 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA381578497 RCV000669025 rs1554995662	217	M>I	Autosomal recessive osteopetrosis 1 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000672093 CA381578480 rs1554995659	217	M>V	Autosomal recessive osteopetrosis 1 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs748465503 RCV000179912 RCV002503696 CA247241	219	F>S	Autosomal recessive osteopetrosis 1 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs1590804397 RCV000991440	225	G>missing	Autosomal recessive osteopetrosis 1 [ClinVar]	Yes	ClinVar dbSNP
rs1554995706 RCV000673226	236	T>missing	Autosomal recessive osteopetrosis 1 [ClinVar]	Yes	ClinVar dbSNP
CA6146778 RCV002530734 rs116001129 RCV000668036	236	T>M	Autosomal recessive osteopetrosis 1 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs759557477 CA6146801 COSM3703650 RCV000667734	242	H>R	Autosomal recessive osteopetrosis 1 liver [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD
RCV001856459 RCV001109351 rs751988410 CA6146806	249	Q>K	Autosomal recessive osteopetrosis 1 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000669308 rs1554995833 RCV002531224	251	E>missing	Autosomal recessive osteopetrosis 1 [ClinVar]	Yes	ClinVar dbSNP
rs1379501520 RCV003120525 RCV001279327 CA381579292	255	G>E	Autosomal recessive osteopetrosis 1 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs376201635 CA381579291 RCV002537842 RCV001279326 CA6146813	255	G>R	Autosomal recessive osteopetrosis 1 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA381579392 RCV001279328 rs1229696229	259	Q>L	Autosomal recessive osteopetrosis 1 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs543099977 CA6146835 RCV000728504 RCV001109352	276	R>W	Autosomal recessive osteopetrosis 1 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV002520749 CA6146837 RCV000401991 RCV003165832 rs146244480	284	R>Q	Autosomal recessive osteopetrosis 1 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001814289 rs1855343916 RCV001239999	288	L>missing	Autosomal recessive osteopetrosis 1 [ClinVar]	Yes	ClinVar dbSNP
RCV000278845 rs886048596 CA10639251	290	P>L	Autosomal recessive osteopetrosis 1 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
CA6146846 RCV000338545 RCV002522201 rs540235063	302	V>M	Autosomal recessive osteopetrosis 1 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs1554996130 RCV000005792	308	Q>missing	Autosomal recessive osteopetrosis 1 [ClinVar]	Yes	ClinVar dbSNP
rs1855349604 RCV001109354	312	S>G	Autosomal recessive osteopetrosis 1 [ClinVar]	Yes	ClinVar dbSNP
rs367818260 RCV001836310 CA6146850 RCV001322831	314	T>M	Autosomal recessive osteopetrosis 1 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP
rs779622577 RCV000669680	314	T>V	Autosomal recessive osteopetrosis 1 [ClinVar]	Yes	ClinVar dbSNP
CA10639253 RCV000391912 RCV001859821 rs372690969	321	E>Q	Autosomal recessive osteopetrosis 1 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000879656 CA6146855 rs202161177 RCV001276540	322	A>T	Autosomal recessive osteopetrosis 1 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs1565156743 RCV002000041 RCV002227570	324	C>missing	Autosomal recessive osteopetrosis 1 [ClinVar]	Yes	ClinVar dbSNP
rs749361897 CA6146858 RCV001061622 RCV000665688	327	R>*	Autosomal recessive osteopetrosis 1 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA6146863 RCV001279329 RCV002537843 rs773402451	331	A>T	Autosomal recessive osteopetrosis 1 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1855355458 RCV001279330	336	L>V	Autosomal recessive osteopetrosis 1 [ClinVar]	Yes	ClinVar dbSNP
RCV001339257 RCV001279333 CA6146867 rs139263189	337	R>Q	Autosomal recessive osteopetrosis 1 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV002537844 rs766765320 RCV001279332 CA6146866	337	R>W	Autosomal recessive osteopetrosis 1 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000671340 rs1159666762 RCV001199944 RCV002531278 CA381581036	342	E>*	Autosomal recessive osteopetrosis 1 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV002520750 RCV001859823 CA6146924 RCV000391960 rs146023337	348	V>M	Autosomal recessive osteopetrosis 1 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs758621844 CA6146926 RCV000784976	351	R>H	Autosomal recessive osteopetrosis 1 Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
CA6146929 RCV001279334 rs369222109	354	C>S	Autosomal recessive osteopetrosis 1 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001330189 rs372701023 CA6146933	356	D>N	Autosomal recessive osteopetrosis 1 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000662133 RCV001855400 CA6146941 rs375809635	363	R>C	Autosomal recessive osteopetrosis 1 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001279335 rs755474518 RCV002541707 CA6146942	363	R>H	Autosomal recessive osteopetrosis 1 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000940052 CA6146944 rs148619884 RCV003141899	366	R>C	Autosomal recessive osteopetrosis 1 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA6146946 RCV003165833 RCV002520751 RCV000362594 rs369983011	366	R>H	Autosomal recessive osteopetrosis 1 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA224205674 RCV001279336 rs913332283	367	F>Y	Autosomal recessive osteopetrosis 1 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
RCV002552435 RCV003155339 rs776436008 CA6146949 RCV001030049	372	Q>*	Autosomal recessive osteopetrosis 1 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV000668037 RCV001058911 rs1269558164	373	G>missing	Autosomal recessive osteopetrosis 1 [ClinVar]	Yes	ClinVar dbSNP
rs1554996686 RCV000667839	375	V>missing	Autosomal recessive osteopetrosis 1 [ClinVar]	Yes	ClinVar dbSNP
RCV000778337 rs140191063 CA6147023 RCV000345603	403	M>I	Autosomal recessive osteopetrosis 1 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000667452 RCV001390427 RCV001377672 rs137853150 RCV002307355 VAR_019569 CA381582212 RCV000005796 CA117545	405	G>R	Autosomal recessive osteopetrosis 1 OPTB1 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
RCV000509143 CA6147031 RCV000224875 RCV002277583 rs140963213	417	A>T	Autosomal recessive osteopetrosis 1 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001390428 rs1489993984 RCV000673534 CA381582425	426	R>*	Autosomal recessive osteopetrosis 1 Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD
CA6147048 RCV000333617 RCV002520752 rs772440359	432	A>T	Autosomal recessive osteopetrosis 1 Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD
rs777785526 RCV000675173 RCV001241325 CA6147051	433	Q>*	Autosomal recessive osteopetrosis 1 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA117547 VAR_019570 RCV000005797 rs137853151	444	R>L	Autosomal recessive osteopetrosis 1 OPTB1 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
CA381583700 RCV000671418 rs1348842114	450	M>R	Autosomal recessive osteopetrosis 1 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV000669207 RCV001237832 rs200851583 CA6147088	458	G>S	Autosomal recessive osteopetrosis 1 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD
RCV002556189 RCV001112140 rs771395837 CA6147089	461	Y>C	Autosomal recessive osteopetrosis 1 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
VAR_020989 rs771271907	462	N>missing	OPTB1 [UniProt]	Yes	UniProt dbSNP
RCV000672760 rs1554997997	462	N>missing	Autosomal recessive osteopetrosis 1 [ClinVar]	Yes	ClinVar dbSNP
VAR_020989 rs771271907	462	N>del	OPTB1 [UniProt]	Yes	UniProt dbSNP
CA117542 RCV000005793 rs137853149	464	C>*	Autosomal recessive osteopetrosis 1 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA6147096 rs774244420 RCV001831045 RCV001338108	468	A>T	Autosomal recessive osteopetrosis 1 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs750456593 RCV001115088 CA6147099	473	P>S	Autosomal recessive osteopetrosis 1 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
COSM3935608 RCV002531411 RCV000680122 CA6147101 rs199914625	474	S>L	Autosomal recessive osteopetrosis 1 Variant assessed as Somatic; 0.0 impact. oesophagus [ClinVar, NCI-TCGA, Cosmic]	Yes	ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV000665747 rs1554998061	480	A>missing	Autosomal recessive osteopetrosis 1 [ClinVar]	Yes	ClinVar dbSNP
rs141474168 RCV002069456 RCV001279340 CA6147142	496	T>M	Autosomal recessive osteopetrosis 1 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs369803798 RCV000593066 RCV000315991 CA6147147	503	N>S	Autosomal recessive osteopetrosis 1 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs1855591352 RCV001115089	504	V>D	Autosomal recessive osteopetrosis 1 [ClinVar]	Yes	ClinVar dbSNP
CA6147149 rs755559179 RCV001315489 RCV001836292	504	V>I	Autosomal recessive osteopetrosis 1 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
CA224208694 RCV001307248 rs868702370 RCV001830238	510	G>R	Autosomal recessive osteopetrosis 1 Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar Ensembl NCI-TCGA dbSNP
RCV000280819 RCV001859824 rs776489478 CA6147155	514	F>I	Autosomal recessive osteopetrosis 1 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV001375862 VAR_020990 rs369264588 RCV001814292 RCV001251405 RCV002570450 CA6147157	517	D>N	Autosomal recessive osteopetrosis 1 OPTB1 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD
rs1057517365 RCV000410207 CA16041533	520	W>*	Autosomal recessive osteopetrosis 1 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA6147196 RCV001279341 rs376351835	529	F>L	Autosomal recessive osteopetrosis 1 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs142539969 RCV001109451 RCV000327113 CA6147202	539	V>I	Autosomal recessive osteopetrosis 1 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001279343 CA6147207 rs763319140	543	V>I	Autosomal recessive osteopetrosis 1 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs371505143 CA6147210 RCV000985061 RCV001858610	544	V>M	Autosomal recessive osteopetrosis 1 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000729906 RCV001279345 CA6147215 rs779779379	555	F>L	Autosomal recessive osteopetrosis 1 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP
RCV001511036 CA201159 rs35089741 RCV000376815 RCV000174755 RCV002277345	558	V>L	Autosomal recessive osteopetrosis 1 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV002538381 RCV001289553 rs1855655612	562	Q>*	Autosomal recessive osteopetrosis 1 [ClinVar]	Yes	ClinVar dbSNP
RCV001302706 RCV001830189 CA224209634 rs890729823	565	R>W	Autosomal recessive osteopetrosis 1 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV002520753 CA6147244 RCV000342076 rs61730880	570	T>M	Autosomal recessive osteopetrosis 1 Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV000918521 rs115854062 CA6147246 RCV001109453	572	P>L	Autosomal recessive osteopetrosis 1 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA6147248 rs576389893 RCV002541709 RCV001279347	573	E>G	Autosomal recessive osteopetrosis 1 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD
rs1425479122 RCV000669687	603	A>missing	Autosomal recessive osteopetrosis 1 [ClinVar]	Yes	ClinVar dbSNP
CA6147275 RCV001279348 rs751612634	609	H>Y	Autosomal recessive osteopetrosis 1 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs1554999148 RCV000673743	612	N>missing	Autosomal recessive osteopetrosis 1 [ClinVar]	Yes	ClinVar dbSNP
CA6147278 rs753897523 RCV001871577 RCV001279726	615	L>I	Autosomal recessive osteopetrosis 1 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA10639258 rs886048599 RCV000307075	618	H>R	Autosomal recessive osteopetrosis 1 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
RCV001871578 CA6147287 rs201661352 RCV002541722 RCV001279729	628	R>Q	Autosomal recessive osteopetrosis 1 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000666021 rs1554999516	631	V>missing	Autosomal recessive osteopetrosis 1 [ClinVar]	Yes	ClinVar dbSNP
rs1300297240 RCV000671737 RCV000800056	631	V>missing	Autosomal recessive osteopetrosis 1 [ClinVar]	Yes	ClinVar dbSNP
RCV001856482 rs765175241 RCV001111766 CA6147318	633	Q>R	Autosomal recessive osteopetrosis 1 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000347884 CA6147320 RCV000930117 rs763119311	635	T>M	Autosomal recessive osteopetrosis 1 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1554999539 RCV000667459	635	T>missing	Autosomal recessive osteopetrosis 1 [ClinVar]	Yes	ClinVar dbSNP
RCV000674519 rs757802200	658	R>missing	Autosomal recessive osteopetrosis 1 [ClinVar]	Yes	ClinVar dbSNP
RCV000670478 rs1554999610	659	H>missing	Autosomal recessive osteopetrosis 1 [ClinVar]	Yes	ClinVar dbSNP
RCV001350387 CA381588941 RCV001831159 rs528045019	660	R>G	Autosomal recessive osteopetrosis 1 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV001111767 CA6147336 RCV001856483 rs746874956	660	R>H	Autosomal recessive osteopetrosis 1 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000667308 rs781509075	661	R>missing	Autosomal recessive osteopetrosis 1 [ClinVar]	Yes	ClinVar dbSNP
rs763065648 CA6147339 RCV001111768 RCV002556178	662	R>H	Autosomal recessive osteopetrosis 1 Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD
RCV000669827 rs886332099	666	R>missing	Autosomal recessive osteopetrosis 1 [ClinVar]	Yes	ClinVar dbSNP
RCV001199854 rs371263807 RCV000819121 CA6147346 RCV000666300	670	R>*	Autosomal recessive osteopetrosis 1 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs1590817956 RCV000815242 CA381589473 RCV002501118	689	W>*	Autosomal recessive osteopetrosis 1 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001111769 rs772173081 CA6147379	691	S>P	Autosomal recessive osteopetrosis 1 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs573002924 RCV001871579 RCV001279734 CA6147412	708	V>I	Autosomal recessive osteopetrosis 1 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV000277789 CA6147423 RCV001572714 rs150260808	721	I>N	Autosomal recessive osteopetrosis 1 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000671164 CA381590492 rs1279951928	729	S>P	Autosomal recessive osteopetrosis 1 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
RCV000663355 RCV000133575 CA170625 RCV000224333 rs587779413	736	R>S	Neutropenia, severe congenital, 1, autosomal dominant (scn1) Congenital neutropenia Neutropenia, severe congenital, 1, autosomal dominant [Ensembl, ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA6147442 RCV000668642 rs748659068 RCV001387137	746	Q>*	Autosomal recessive osteopetrosis 1 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001279737 rs1855752104	765	E>K	Autosomal recessive osteopetrosis 1 [ClinVar]	Yes	ClinVar dbSNP
VAR_020991	775	P>R	OPTB1 [UniProt]	Yes	UniProt
RCV002522202 rs144775787 RCV000941287 RCV000320118 CA6147502	778	A>V	Autosomal recessive osteopetrosis 1 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001279738 RCV001302227 CA6147507 rs779910642	782	V>M	Autosomal recessive osteopetrosis 1 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1555000308 CA381592295 RCV000674141	805	W>*	Autosomal recessive osteopetrosis 1 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1308533755 CA381592792 RCV001279740	815	G>S	Autosomal recessive osteopetrosis 1 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
RCV000855724 rs1590819834	818	Y>missing	Autosomal recessive osteopetrosis 1 [ClinVar]	Yes	ClinVar dbSNP
rs886048602 RCV000263957 CA10631425	825	F>L	Autosomal recessive osteopetrosis 1 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV000967765 RCV001727675 RCV000323728 rs75596506 CA6147554	826	A>T	Autosomal recessive osteopetrosis 1 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs147175413 RCV001279741 CA6147557 RCV001871580	829	D>G	Autosomal recessive osteopetrosis 1 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC dbSNP gnomAD
RCV000674548 rs1555000463	831	D>=	Autosomal recessive osteopetrosis 1 [ClinVar]	Yes	ClinVar dbSNP
rs1328822079 CA381572426	2	G>S		No	ClinGen gnomAD
rs1224318177 CA381572435	2	G>V		No	ClinGen TOPMed gnomAD
CA6146609 rs201972729	3	S>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs1186239406 CA381572466	4	M>K		No	ClinGen TOPMed
CA224199553 rs915427435	4	M>V		No	ClinGen TOPMed gnomAD
CA381572497 rs1233969553	5	F>L		No	ClinGen gnomAD
CA6146612 rs768203698	6	R>P		No	ClinGen ExAC TOPMed gnomAD
CA381572522 rs1565152516	7	S>N		No	ClinGen Ensembl
rs1480589952 CA381572541	8	E>*		No	ClinGen TOPMed gnomAD
CA381572553 rs1480589952	8	E>K		No	ClinGen TOPMed gnomAD
rs1391565123 CA381572575	9	E>K		No	ClinGen TOPMed gnomAD
CA6146615 rs773182208	10	V>G		No	ClinGen ExAC gnomAD
rs1590799978 CA381572594	10	V>L		No	ClinGen Ensembl
rs759582690 CA6146616	11	A>T		No	ClinGen ExAC gnomAD
rs1449734297 CA381572629	11	A>V		No	ClinGen gnomAD
rs765426561 CA6146617	12	L>V		No	ClinGen ExAC gnomAD
rs1356265373 CA381572642	13	V>I		No	ClinGen TOPMed gnomAD
rs1356265373 CA381572643	13	V>L		No	ClinGen TOPMed gnomAD
rs752849425 CA381572743	17	L>M		No	ClinGen ExAC TOPMed gnomAD
rs752849425 CA6146619	17	L>V		No	ClinGen ExAC TOPMed gnomAD
rs1031917384 CA224199621	20	A>T		No	ClinGen Ensembl
rs757721543 CA6146623	21	A>T		No	ClinGen ExAC TOPMed gnomAD
rs781759806 CA6146624	22	A>V		No	ClinGen ExAC TOPMed gnomAD
CA6146627 rs779555019	26	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs748751488 CA6146628	27	S>C		No	ClinGen ExAC gnomAD
CA6146630 rs139397145	28	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs747914463 CA381572966	28	R>L		No	ClinGen ExAC TOPMed gnomAD
CA6146631 rs747914463	28	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA6146635 rs770787381	31	E>G		No	ClinGen ExAC gnomAD
CA6146634 rs549532182	31	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs762979070 CA6146637	33	G>V		No	ClinGen ExAC gnomAD
RCV001246853 rs1855151891	34	L>missing		No	ClinVar dbSNP
rs929362651 CA381573042	35	V>L		No	ClinGen TOPMed gnomAD
rs929362651 CA224199741	35	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA381573083 rs1565152710	37	F>I		No	ClinGen Ensembl
CA381573144 rs764330464	39	D>E		No	ClinGen ExAC TOPMed gnomAD
rs866120209 CA224201888	40	L>I		No	ClinGen Ensembl
CA6146664 rs147102889	41	N>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6146665 rs752218792	42	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	45	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6146668 rs746760136	46	A>G		No	ClinGen ExAC TOPMed gnomAD
CA381574380 rs777437386	46	A>S		No	ClinGen ExAC TOPMed gnomAD
rs777437386 CA6146667 COSM931177	46	A>T	ovary Variant assessed as Somatic; 0.0 impact. endometrium [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA381574485 rs1424325891	49	R>K		No	ClinGen TOPMed
rs781157122 CA6146670	50	R>H		No	ClinGen ExAC TOPMed gnomAD
CA6146671 rs138308753	51	F>S		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	52	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs118141250 CA224201929	52	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs547282246 CA6146673	53	V>A		No	ClinGen 1000Genomes ExAC gnomAD
CA381574572 rs1281623303	53	V>I		No	ClinGen gnomAD
CA6146676 rs36027301	56	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs368777603 CA224201966	56	R>P		No	ClinGen ESP TOPMed gnomAD
CA381574668 rs368777603	56	R>Q		No	ClinGen ESP TOPMed gnomAD
CA6146677 rs763667012	57	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs150648332 CA6146678	57	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA381574942 rs1230929903	65	F>L		No	ClinGen gnomAD
CA6146679 rs372707757	66	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs886048593 CA224202781	66	T>N		No	ClinGen gnomAD
CA224202785 rs924034232	67	F>L		No	ClinGen TOPMed
rs1199962112 CA381575153	69	Q>R		No	ClinGen gnomAD
CA381575174 rs1304120625	70	E>V		No	ClinGen gnomAD
CA381575212 rs1347081763	72	V>A		No	ClinGen gnomAD
rs1347081763 CA381575209	72	V>E		No	ClinGen gnomAD
rs1300050851 COSM1356484 CA381575222	73	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA381575219 rs1384688935	73	R>W		No	ClinGen TOPMed gnomAD
rs1013345702 CA224202793	74	R>Q		No	ClinGen TOPMed gnomAD
rs780788680 CA6146687	74	R>W		No	ClinGen ExAC TOPMed gnomAD
CA224202800 rs896473596	75	A>D		No	ClinGen TOPMed gnomAD
CA381575242 rs1024753171	75	A>S		No	ClinGen gnomAD
rs1024753171 CA224202799	75	A>T		No	ClinGen gnomAD
rs1590802365 CA381575291	77	L>R		No	ClinGen Ensembl
CA381575316 rs1293665875	78	V>A		No	ClinGen gnomAD
rs1489611026 CA381575329	79	L>P		No	ClinGen gnomAD
CA381575342 rs1266896439	80	P>A		No	ClinGen TOPMed gnomAD
rs745676260 CA6146688	80	P>L		No	ClinGen ExAC gnomAD
CA381575339 rs1266896439	80	P>S		No	ClinGen TOPMed gnomAD
CA381575345 rs1266896439	80	P>T		No	ClinGen TOPMed gnomAD
rs375348720 CA224202807	81	P>L		No	ClinGen 1000Genomes TOPMed gnomAD
rs982462013 CA224202892	87	P>R		No	ClinGen TOPMed gnomAD
CA381575545 rs1292612021	89	P>S		No	ClinGen TOPMed gnomAD
CA224202916 rs908094911	90	P>L		No	ClinGen gnomAD
rs1006811481 CA224202917	91	P>L		No	ClinGen TOPMed gnomAD
rs1383427902 CA381575594	91	P>S		No	ClinGen gnomAD
CA6146692 rs773563515	92	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA381575676 rs1317016558	93	D>E		No	ClinGen gnomAD
rs1317644313 CA381575702	95	L>M		No	ClinGen TOPMed
CA381575736 rs1319738175	96	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA381575750 rs1243713569	97	I>N		No	ClinGen gnomAD
CA381575765 rs1554995115 RCV000595032	98	Q>*		No	ClinGen ClinVar Ensembl dbSNP
CA381575785 rs1265099845	98	Q>H		No	ClinGen gnomAD
CA224202938 rs993860020	100	E>V		No	ClinGen TOPMed
rs1040671295 CA224202948	101	T>M		No	ClinGen gnomAD
CA381575911 rs1590802568	102	E>D		No	ClinGen Ensembl
rs775326246 CA6146695	103	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1467058950 CA381576014	107	E>K		No	ClinGen TOPMed
rs765686263 CA381576067	109	R>P		No	ClinGen ExAC TOPMed gnomAD
rs765686263 CA6146697	109	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA6146696 rs201329219	109	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6146698 rs776027825	110	D>G		No	ClinGen ExAC TOPMed gnomAD
CA381576106 rs1364074551	111	V>A		No	ClinGen TOPMed gnomAD
CA381576102 rs1364074551	111	V>E		No	ClinGen TOPMed gnomAD
rs1050500045 CA224203007	112	R>Q		No	ClinGen TOPMed gnomAD
rs762422453 CA6146699	112	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1387246190 CA381576127	113	G>S		No	ClinGen gnomAD
rs1218201128 CA381576206	115	Q>H		No	ClinGen TOPMed
rs763664425 CA6146700	117	A>S		No	ClinGen ExAC TOPMed gnomAD
rs1395300898 CA381576255	117	A>V		No	ClinGen gnomAD
rs1290073512 CA381576276	119	R>Q		No	ClinGen gnomAD
rs1307439139 CA381576272	119	R>W		No	ClinGen TOPMed gnomAD
CA224203011 rs967962426	120	A>V		No	ClinGen TOPMed
rs1317790060 CA381576317	121	Q>H		No	ClinGen gnomAD
CA381576345 rs1230441468	123	H>R		No	ClinGen gnomAD
rs1565154253 CA381576358	124	Q>*		No	ClinGen Ensembl
rs903939170 CA224203027	126	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs1590802738 CA381576403	126	Q>P		No	ClinGen Ensembl
CA381576415 rs1375882126	127	L>V		No	ClinGen TOPMed
CA6146701 rs3808973	128	H>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1052401866 CA224203039	129	A>T		No	ClinGen TOPMed gnomAD
CA381576449 rs1239735537	129	A>V		No	ClinGen TOPMed gnomAD
rs935429358 CA224203044	130	A>T		No	ClinGen TOPMed gnomAD
rs1251650327 CA381576470	130	A>V		No	ClinGen TOPMed gnomAD
rs756020553 CA6146704	133	R>C		No	ClinGen ExAC TOPMed gnomAD
rs201233914 CA6146705	133	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs888041200 CA224203052	134	Q>E		No	ClinGen TOPMed
CA381576535 rs1357428039	135	G>S		No	ClinGen gnomAD
rs549402119 CA224203053	136	H>P		No	ClinGen 1000Genomes TOPMed gnomAD
CA6146706 CA381576562 rs567920476	136	H>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1590802849 CA381576589	138	P>L		No	ClinGen Ensembl
rs1218654453 CA381576660	140	L>P		No	ClinGen gnomAD
rs377425304 CA6146716	143	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs377425304 CA381576688	143	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA381576698 rs1274332067	143	A>V		No	ClinGen gnomAD
CA6146717 COSM3687593 rs773690722	144	H>R	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1017915060 CA224203196	144	H>Y		No	ClinGen TOPMed
CA6146719 rs767052351	145	T>I		No	ClinGen ExAC gnomAD
CA224203240 rs986723688	146	D>H		No	ClinGen gnomAD
rs986723688 CA224203234	146	D>N		No	ClinGen gnomAD
CA381576752 rs1186529106	148	A>S		No	ClinGen gnomAD
TCGA novel	148	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs979358405 CA224203244	149	S>*		No	ClinGen TOPMed
rs925363548 CA224203242	149	S>T		No	ClinGen Ensembl
rs760540347 CA6146721	152	T>K		No	ClinGen ExAC TOPMed gnomAD
CA224203262 rs760540347	152	T>M		No	ClinGen ExAC TOPMed gnomAD
CA381576811 rs760540347	152	T>R		No	ClinGen ExAC TOPMed gnomAD
rs1325811983 CA381576825	153	P>L		No	ClinGen gnomAD
rs371138836 CA224203304	153	P>S		No	ClinGen ESP TOPMed gnomAD
CA381576819 rs371138836	153	P>T		No	ClinGen ESP TOPMed gnomAD
CA381576842 rs1435922295	155	L>F		No	ClinGen gnomAD
rs892466007 CA224203323	156	Q>R		No	ClinGen TOPMed gnomAD
rs778942094 CA6146726	157	A>G		No	ClinGen ExAC gnomAD
rs751546005 CA6146727	158	P>A		No	ClinGen ExAC TOPMed gnomAD
CA381576882 rs751546005	158	P>S		No	ClinGen ExAC TOPMed gnomAD
rs573845313 CA381576893 CA6146728	159	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1554995341	161	P>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA381576913 rs1249309366	161	P>T		No	ClinGen gnomAD
rs1385741705 CA381576945	163	Q>E		No	ClinGen gnomAD
CA381576976 rs1161229165	165	L>R		No	ClinGen gnomAD
rs370395754 CA6146733	166	R>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA224203393 rs888303395	167	V>I		No	ClinGen Ensembl
rs1160066233 CA381577009	168	N>H		No	ClinGen gnomAD
rs1008224466 CA224203802	171	A>E		No	ClinGen gnomAD
CA381577107 rs1008224466	171	A>V		No	ClinGen gnomAD
TCGA novel	172	G>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1181597808 CA381577122	173	A>G		No	ClinGen gnomAD
CA381577123 rs1479019892	174	V>M		No	ClinGen gnomAD
rs757283082 CA6146744	175	E>G		No	ClinGen ExAC
CA381577139 rs1171368158	176	P>H		No	ClinGen gnomAD
CA224203820 rs550763346	184	R>H		No	ClinGen 1000Genomes TOPMed gnomAD
CA224203832 rs988284407	189	A>D		No	ClinGen TOPMed gnomAD
rs367703865 CA6146746 COSM931178	191	R>H	endometrium [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs1016352363 CA224203865	195	I>T		No	ClinGen TOPMed
CA381577263 rs1189952990	196	A>T		No	ClinGen TOPMed
CA381577270 rs1475592042	197	S>G		No	ClinGen TOPMed
CA381577272 rs1274200414	197	S>N		No	ClinGen gnomAD
rs1342775041 CA381577278	198	F>L		No	ClinGen gnomAD
CA381577292 rs1262519957	200	E>K		No	ClinGen TOPMed
rs1482222995 CA381577323	204	P>S		No	ClinGen gnomAD
rs1450605645 CA381577351	208	P>L		No	ClinGen gnomAD
CA381577348 rs1377623079	208	P>S		No	ClinGen gnomAD
CA381577354 rs879921769	209	V>L		No	ClinGen TOPMed gnomAD
CA224203921 rs879921769	209	V>M		No	ClinGen TOPMed gnomAD
CA381577359 rs1275619155	210	T>A		No	ClinGen TOPMed
rs1388756575 CA381578388	211	G>C		No	ClinGen TOPMed gnomAD
CA224203997 rs371800878	212	E>A		No	ClinGen ESP TOPMed
rs368374708 CA6146767	212	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs368374708 CA381578395	212	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA381578444 rs1396449217	215	T>A		No	ClinGen gnomAD
CA6146768 rs755283570	215	T>M		No	ClinGen ExAC gnomAD
CA381578530 rs1242912856	219	F>L		No	ClinGen gnomAD
rs1329940998 CA381578579	221	I>M		No	ClinGen gnomAD
CA381578598 rs1246792928	223	Y>H		No	ClinGen gnomAD
CA381578634 rs1485827427	225	G>S		No	ClinGen gnomAD
CA381578644 rs1258673482	226	E>K		No	ClinGen TOPMed gnomAD
CA224204060 rs552952262	227	Q>R		No	ClinGen 1000Genomes
rs770606668 CA6146773	229	G>E		No	ClinGen ExAC TOPMed gnomAD
rs746497338 CA6146772	229	G>R		No	ClinGen ExAC TOPMed gnomAD
CA381578678 rs1156299579	230	Q>*		No	ClinGen gnomAD
rs776421112 CA381578722	233	R>C		No	ClinGen ExAC TOPMed gnomAD
CA6146775 rs776421112	233	R>G		No	ClinGen ExAC TOPMed gnomAD
rs769348368 CA224204090	233	R>H		No	ClinGen ExAC TOPMed gnomAD
rs769348368 CA6146776	233	R>L		No	ClinGen ExAC TOPMed gnomAD
CA6146774 rs776421112	233	R>S		No	ClinGen ExAC TOPMed gnomAD
rs1376740807 CA381578730	234	K>Q		No	ClinGen gnomAD
rs1554995715 RCV000597322	235	I>missing		No	ClinVar dbSNP
CA6146777 rs775292379	235	I>V		No	ClinGen ExAC TOPMed gnomAD
rs763993521 CA6146779	238	C>G		No	ClinGen ExAC TOPMed gnomAD
CA381578948 rs1283493088	240	H>R		No	ClinGen TOPMed
CA381578968 rs1234230686	241	C>Y		No	ClinGen TOPMed gnomAD
rs1054033489 CA224204258	242	H>Q		No	ClinGen TOPMed gnomAD
rs765476130 CA6146802	243	V>I		No	ClinGen ExAC TOPMed gnomAD
CA6146803 rs752904356	244	F>L		No	ClinGen ExAC gnomAD
CA6146805 rs550724647	245	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6146804 rs550724647	245	P>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA381579047 rs550724647	245	P>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1189182100 CA381579113	248	Q>*		No	ClinGen gnomAD
CA381579135 rs751988410	249	Q>*		No	ClinGen ExAC TOPMed gnomAD
CA381579170 rs1419160143	249	Q>H		No	ClinGen gnomAD
rs757776593 CA6146807	249	Q>P		No	ClinGen ExAC gnomAD
CA381579215 rs1590804961	251	E>*		No	ClinGen Ensembl
CA6146808 rs781773533	252	A>P		No	ClinGen ExAC TOPMed gnomAD
CA381579244 rs781773533	252	A>S		No	ClinGen ExAC TOPMed gnomAD
CA381579240 rs781773533	252	A>T		No	ClinGen ExAC TOPMed gnomAD
CA6146809 rs749921928	253	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs755617128 CA6146810	253	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs755617128 CA381579268	253	R>L		No	ClinGen ExAC TOPMed gnomAD
rs755617128 CA381579266	253	R>P		No	ClinGen ExAC TOPMed gnomAD
CA6146811 rs569142867	254	L>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA224204310 rs376201635	255	G>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1231339271 CA381579302	256	A>P		No	ClinGen TOPMed
rs1231339271 CA381579300	256	A>T		No	ClinGen TOPMed
CA224204312 rs866821968	258	Q>*		No	ClinGen Ensembl
rs866821968 CA381579354	258	Q>E		No	ClinGen Ensembl
rs868712159 CA224204316	260	L>M		No	ClinGen gnomAD
CA381579440 rs1208748869	262	Q>*		No	ClinGen gnomAD
CA381579439 rs1208748869	262	Q>E		No	ClinGen gnomAD
CA224204321 rs1003722483	263	Q>*		No	ClinGen Ensembl
rs1399468814 CA381579475	263	Q>H		No	ClinGen TOPMed
CA381579464 rs1293927571	263	Q>R		No	ClinGen TOPMed
rs747968023 CA6146815	264	S>N		No	ClinGen ExAC TOPMed gnomAD
rs1034150579 CA224204325	265	Q>K		No	ClinGen TOPMed
CA381579604 rs1349619686	269	E>V		No	ClinGen TOPMed
TCGA novel	270	V>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs955301667 CA224204653	271	L>F		No	ClinGen TOPMed gnomAD
CA6146833 CA381579736 rs769761112	272	G>R		No	ClinGen ExAC TOPMed gnomAD
rs747906395 CA6146834	273	E>G		No	ClinGen ExAC TOPMed gnomAD
rs935877148 CA224204694	275	E>A		No	ClinGen TOPMed gnomAD
rs554726944 CA6146836	276	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1181161290 CA381579954	281	V>M		No	ClinGen gnomAD
CA381579992 rs1590805845	283	G>A		No	ClinGen Ensembl
CA224204713 rs1039065279	284	R>W		No	ClinGen TOPMed gnomAD
rs1438649189 CA381580129	291	P>S		No	ClinGen gnomAD
CA224204722 rs945686957	292	G>R		No	ClinGen Ensembl
CA381580180 rs1342609077	293	Q>*		No	ClinGen gnomAD
CA224204759 rs1045419378	293	Q>H		No	ClinGen gnomAD
rs374215087 CA6146841	293	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA381580205 rs1337694224	294	V>L		No	ClinGen gnomAD
CA6146842 rs774767504	295	Q>E		No	ClinGen ExAC TOPMed gnomAD
CA224204779 rs573287519	295	Q>H		No	ClinGen 1000Genomes gnomAD
rs762259521 CA6146843	300	K>E		No	ClinGen ExAC gnomAD
rs767839791 CA6146844	300	K>M		No	ClinGen ExAC gnomAD
CA381580412 rs540235063	302	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1855347940 RCV001057048	303	Y>missing		No	ClinVar dbSNP
CA381580450 rs1449131788	304	L>P		No	ClinGen TOPMed
CA381580465 rs1329452774	305	A>D		No	ClinGen Ensembl
CA381580457 rs1163426827	305	A>T		No	ClinGen gnomAD
rs1459350935 CA381580496	307	N>S		No	ClinGen gnomAD
rs1325158772 CA381580548	310	S>G		No	ClinGen gnomAD
rs78181205 CA6146848	311	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1324956250 CA381580611	313	T>S		No	ClinGen gnomAD
CA381580631 rs1337046769	315	H>N		No	ClinGen gnomAD
CA381580636 rs1337046769	315	H>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1224704097 CA381580660	316	K>N		No	ClinGen TOPMed
rs1269259953 CA381580659	316	K>R		No	ClinGen TOPMed
CA381580674 rs1211884318	317	C>*		No	ClinGen TOPMed gnomAD
rs1273183083 CA381580690	319	I>V		No	ClinGen gnomAD
CA381580714 rs1313623995	320	A>V		No	ClinGen gnomAD
CA381580726 rs1428246787	321	E>A		No	ClinGen gnomAD
CA6146853 rs372690969	321	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs757090849 CA6146856	322	A>G		No	ClinGen ExAC gnomAD
rs1327818531 CA381580757	323	W>*		No	ClinGen TOPMed
CA381580802 rs1163582423	325	S>C		No	ClinGen gnomAD
CA6146859 rs376320516	327	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs376320516 CA224204935	327	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs376320516 CA6146860	327	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1384016071 CA381580828 CA381580826	328	D>E		No	ClinGen TOPMed gnomAD
rs748316729 CA6146861	328	D>N		No	ClinGen ExAC TOPMed
CA381580830 rs1467397245	329	L>M		No	ClinGen TOPMed
rs773402451 CA6146864	331	A>P		No	ClinGen ExAC TOPMed gnomAD
rs773402451 CA381580850	331	A>S		No	ClinGen ExAC TOPMed gnomAD
rs267603146 CA224204974	331	A>V		No	ClinGen gnomAD
CA381580869 rs1292723921	333	Q>R		No	ClinGen gnomAD
CA381580897 rs1329877127	335	A>V		No	ClinGen TOPMed gnomAD
rs1485751585 CA381580922	338	D>G		No	ClinGen TOPMed gnomAD
rs1297839929 CA381580916	338	D>H		No	ClinGen TOPMed
rs201172503 CA6146868	340	S>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs199679482 CA6146918	341	M>V		No	ClinGen ExAC TOPMed gnomAD
rs1159666762 CA381581034	342	E>K		No	ClinGen gnomAD
CA224205554 rs918851905	343	E>D		No	ClinGen Ensembl
rs1167726677 CA381581047	343	E>K		No	ClinGen TOPMed gnomAD
rs1318034539 CA381581066	344	G>E		No	ClinGen TOPMed gnomAD
CA6146921 rs746196069	344	G>R		No	ClinGen ExAC TOPMed gnomAD
CA6146922 rs756515585	347	A>T		No	ClinGen ExAC gnomAD
CA381581101 rs1416271565	347	A>V		No	ClinGen gnomAD
rs1239069079 CA381581124	350	H>P		No	ClinGen gnomAD
rs1239069079 CA381581126	350	H>R		No	ClinGen gnomAD
CA224205565 rs554040286	350	H>Y		No	ClinGen Ensembl
rs374953343 CA6146925 COSM241859	351	R>C	prostate [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs374953343 CA224205567	351	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs758621844 CA224205574	351	R>P		No	ClinGen ExAC TOPMed gnomAD
rs374953343 CA381581133	351	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA6146928 rs771820589	352	I>N		No	ClinGen ExAC gnomAD
rs1349733720 CA381581166	354	C>R		No	ClinGen gnomAD
CA381581168 rs369222109	354	C>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA6146932 rs148627120	355	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs573229725 CA6146931	355	R>W		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	356	D>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1469032708 CA381581190	356	D>E		No	ClinGen gnomAD
rs751624553 CA6146934	358	P>S		No	ClinGen ExAC gnomAD
CA381581225 rs1436902507	359	P>L		No	ClinGen gnomAD
rs1158449736	360	T>H	Variant assessed as Somatic; 5.654e-05 impact. [NCI-TCGA]	No	NCI-TCGA
rs757401335 CA6146940	362	I>V		No	ClinGen ExAC TOPMed gnomAD
CA381581266 rs755474518	363	R>L		No	ClinGen ExAC TOPMed gnomAD
rs1590807779 CA381581269	364	T>P		No	ClinGen Ensembl
rs779330162 CA6146943	365	N>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA381581285 rs1231788096	365	N>S		No	ClinGen gnomAD
rs148619884 CA6146945	366	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA224205681 rs903110153	368	T>A		No	ClinGen Ensembl
rs373988992 CA6146948	368	T>M		No	ClinGen ESP ExAC gnomAD
CA381581321 rs1455898768	369	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA381581344 rs1192142500	371	F>L		No	ClinGen gnomAD
rs769737148 CA6146951	374	I>T		No	ClinGen ExAC gnomAD
rs200415611 CA6146953	375	V>M		No	ClinGen 1000Genomes ExAC gnomAD
CA6146954 rs767522882	377	A>V		No	ClinGen ExAC gnomAD
CA381581428 rs1373085443	378	Y>C		No	ClinGen gnomAD
CA6146956 rs371004297	379	G>S		No	ClinGen 1000Genomes ESP ExAC gnomAD
CA6146958 rs191388932	380	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs894345158 CA224205750	381	G>A		No	ClinGen Ensembl
CA6146959 rs566684294	382	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs566684294 CA381581469	382	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6146960 rs377606797	382	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs377606797 CA381581472	382	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1274422321 CA381581484	383	Y>F		No	ClinGen gnomAD
rs573145198 CA224205768	384	Q>E		No	ClinGen ExAC TOPMed gnomAD
CA6146962 rs573145198	384	Q>K		No	ClinGen ExAC TOPMed gnomAD
rs1590808024 CA381581522	386	V>G		No	ClinGen Ensembl
CA6146963 rs777360036	387	N>H		No	ClinGen ExAC gnomAD
CA6146966 rs142053937	388	P>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs746538370 CA6146965	388	P>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	389	A>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA381581548 rs1325653652	389	A>T		No	ClinGen TOPMed
rs1590812566 CA381582071	392	T>P		No	ClinGen Ensembl
CA381582081 rs1397166053 COSM1746522	393	I>V	urinary_tract [Cosmic]	No	ClinGen cosmic curated gnomAD
CA381582104 rs1413003717	394	I>T		No	ClinGen TOPMed gnomAD
CA6147019 rs749063696	395	T>I		No	ClinGen ExAC gnomAD
rs537603997 CA6147020	397	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1225263595 CA381582145	398	F>L		No	ClinGen TOPMed
rs1442151162 CA381582154	399	L>R		No	ClinGen gnomAD
CA6147022 rs747968844	401	A>V		No	ClinGen ExAC gnomAD
CA224207861 rs1057066730	403	M>L		No	ClinGen TOPMed
rs1218313314 CA381582208	404	F>L		No	ClinGen TOPMed gnomAD
CA6147024 rs745990776	405	G>V		No	ClinGen ExAC gnomAD
CA381582234 rs1396387841	407	V>M		No	ClinGen TOPMed
CA381582245 rs1166821993	408	G>S		No	ClinGen TOPMed
CA381582254 rs1590812665	408	G>V		No	ClinGen Ensembl
CA6147027 CA6147026 rs775902505	410	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC gnomAD NCI-TCGA
rs931992198 CA224207899	413	M>I		No	ClinGen Ensembl
CA224207929 rs1044132115	415	L>P		No	ClinGen TOPMed
CA381582330 rs1250941921	416	F>L		No	ClinGen TOPMed gnomAD
rs1839400126 RCV001068858	417	A>missing		No	ClinVar dbSNP
rs1430449011 CA381582381	420	M>T		No	ClinGen gnomAD
CA6147032 rs749871753	420	M>V		No	ClinGen ExAC gnomAD
CA6147035 rs766003504	423	A>G		No	ClinGen ExAC TOPMed gnomAD
rs1423606769 CA381582404	423	A>T		No	ClinGen gnomAD
CA6147034 rs766003504	423	A>V		No	ClinGen ExAC TOPMed gnomAD
rs778516218 CA6147037	426	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs200633409 CA6147039	427	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs200633409 CA6147040	427	P>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs994091057 CA224208015	428	A>V		No	ClinGen TOPMed
rs780415880 CA6147043	429	V>G		No	ClinGen ExAC
rs770052734 CA6147042	429	V>M		No	ClinGen ExAC gnomAD
CA6147044 rs749452126	430	K>E		No	ClinGen ExAC TOPMed gnomAD
CA381582452 rs1334878038	431	A>G		No	ClinGen gnomAD
CA381582453 rs1334878038	431	A>V		No	ClinGen gnomAD
rs201385035 CA6147049	432	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1486959766 CA381582463	433	Q>H		No	ClinGen gnomAD
CA381582469 rs1426703637	434	N>S		No	ClinGen TOPMed
CA381582473 rs1423051176	435	E>K		No	ClinGen gnomAD
TCGA novel	437	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1418193014 CA381583418	438	Q>*		No	ClinGen gnomAD
CA6147075 rs752451271	438	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA6147076 rs559772650	440	F>S		No	ClinGen 1000Genomes ExAC gnomAD
rs751411680 CA6147078	441	F>L		No	ClinGen ExAC gnomAD
rs1441528950 CA381583509	442	R>T		No	ClinGen TOPMed
rs757208775 CA6147079	443	G>V		No	ClinGen ExAC gnomAD
CA381583544 rs1252337145	444	R>C		No	ClinGen gnomAD
rs137853151 CA6147080	444	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA6147081 rs753947773	446	L>V		No	ClinGen ExAC gnomAD
rs918129090 CA224208253	447	L>F		No	ClinGen TOPMed
CA6147083 rs755147688	449	L>F		No	ClinGen ExAC gnomAD
CA381583674 rs1285624977	449	L>P		No	ClinGen gnomAD
COSM1228783 rs533323966 CA6147084	451	G>S	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD
rs1245222600 CA381583799	454	S>F		No	ClinGen TOPMed
rs758562805 CA6147086	457	T>I		No	ClinGen ExAC gnomAD
rs758562805 CA381583838	457	T>N		No	ClinGen ExAC gnomAD
CA381583834 rs1590813147	457	T>P		No	ClinGen Ensembl
CA381583876 rs1590813186	460	I>V		No	ClinGen Ensembl
rs1565160546 CA381583885	461	Y>H		No	ClinGen Ensembl
rs771271907	462	N>missing	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA6147091 rs774578979	463	E>*		No	ClinGen ExAC TOPMed gnomAD
CA6147092 rs774578979	463	E>K		No	ClinGen ExAC TOPMed gnomAD
rs774578979 CA381583910	463	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs774863206 CA6147093	467	R>C		No	ClinGen ExAC TOPMed gnomAD
rs774863206 CA381584001	467	R>G		No	ClinGen ExAC TOPMed gnomAD
CA6147094 rs370981468	467	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs761752747 CA6147097	469	T>A		No	ClinGen ExAC gnomAD
rs1344474854 CA381584068	471	I>T		No	ClinGen gnomAD
CA6147100 rs756009951	474	S>A		No	ClinGen ExAC TOPMed gnomAD
rs199914625 CA6147102	474	S>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA6147105 rs200970211	475	G>S		No	ClinGen ExAC TOPMed gnomAD
CA381584147 rs1182508823	476	W>*		No	ClinGen TOPMed
rs757676092 CA6147106	476	W>*		No	ClinGen ExAC gnomAD
CA381584161 rs1196326603	477	S>C		No	ClinGen gnomAD
CA224208392 rs1001985320	477	S>N		No	ClinGen Ensembl
CA6147107 rs781662187	478	V>M		No	ClinGen ExAC gnomAD
CA224208395 rs762102912	479	A>T		No	ClinGen Ensembl
rs537359796 CA6147109	480	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1465064615 CA381584223	481	M>L		No	ClinGen gnomAD
CA381584228 rs1326413613	481	M>T		No	ClinGen gnomAD
rs1396428560 CA381584255	483	N>D		No	ClinGen gnomAD
rs1384849254 CA381584262	483	N>S		No	ClinGen gnomAD
CA381584273 rs1330710686	484	Q>*		No	ClinGen gnomAD
rs1291479314 CA381584289	484	Q>H		No	ClinGen TOPMed
rs775013749 CA6147110	484	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs748776167 CA6147111	486	G>V		No	ClinGen ExAC TOPMed gnomAD
CA224208424 rs111872036	488	S>N		No	ClinGen Ensembl
CA224208599 rs201443254	495	H>P		No	ClinGen Ensembl
rs763082676 CA6147141	496	T>A		No	ClinGen ExAC gnomAD
CA6147140 rs763082676	496	T>P		No	ClinGen ExAC gnomAD
rs141474168 CA6147143	496	T>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs913830547 CA224208643	497	M>I		No	ClinGen Ensembl
rs750766373 CA6147145	497	M>T		No	ClinGen ExAC gnomAD
rs1455101066 CA381584517	499	T>P		No	ClinGen gnomAD
CA381584527 rs1160743125	500	L>V		No	ClinGen gnomAD
rs1402798335 CA381584537	501	D>N		No	ClinGen TOPMed
CA381584585 rs1394803884	505	T>I		No	ClinGen gnomAD
rs747692743 CA6147150	506	G>S		No	ClinGen ExAC TOPMed gnomAD
CA381584591 rs1466393887	507	V>I		No	ClinGen TOPMed
rs1046252307 CA224208697	511	P>T		No	ClinGen Ensembl
rs138049763 CA224208718	512	Y>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA381584628 rs1257277325	513	P>A		No	ClinGen TOPMed gnomAD
rs1366709820 CA381584856	520	W>*		No	ClinGen TOPMed gnomAD
CA381584861 rs1366709820	520	W>C		No	ClinGen TOPMed gnomAD
rs557890860 CA6147192	521	S>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1355986470 CA381584887	521	S>R		No	ClinGen gnomAD
rs557890860 CA6147193	521	S>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA381584899 rs1590815475	522	L>R		No	ClinGen Ensembl
rs1229911430 CA381584915	523	A>V		No	ClinGen gnomAD
CA6147194 rs536594829	528	S>G		No	ClinGen 1000Genomes ExAC gnomAD
rs555362865 CA381584999	528	S>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6147195 rs555362865 RCV000727901	528	S>T		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs1174386417 CA381585021	529	F>S		No	ClinGen TOPMed
CA381585033 rs1191561486	530	L>F		No	ClinGen gnomAD
rs1263166960 CA381585039	530	L>P		No	ClinGen gnomAD
rs1473426639 CA381585054	531	N>S		No	ClinGen TOPMed gnomAD
CA381585049 rs1473426639	531	N>T		No	ClinGen TOPMed gnomAD
rs371214361 CA6147198	532	S>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA6147199 rs768665063	535	M>K		No	ClinGen ExAC gnomAD
rs1405124204 CA381585123	535	M>L		No	ClinGen gnomAD
CA6147200 rs773130225	536	K>Q		No	ClinGen ExAC gnomAD
rs1590815565 CA381585149	536	K>R		No	ClinGen Ensembl
rs1417375420 CA381585184	537	M>T		No	ClinGen gnomAD
CA6147209 rs371505143	544	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA6147211 rs368945298	546	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs750014017 CA6147212	547	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1212925249 CA381585377	547	A>V		No	ClinGen gnomAD
rs1266695343 CA381585406	548	F>S		No	ClinGen gnomAD
CA381585440 rs1472696830	549	G>E		No	ClinGen gnomAD
rs1382501642 CA381585516	551	V>A		No	ClinGen TOPMed gnomAD
CA224209537 rs975157991	551	V>L		No	ClinGen TOPMed
CA381585529 rs1437466510	552	L>F		No	ClinGen gnomAD
CA381585596 rs1481288287	555	F>S		No	ClinGen gnomAD
CA6147217 rs35089741	558	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6147239 rs770109754	559	H>Y		No	ClinGen ExAC gnomAD
rs780471507 CA6147240	561	G>D		No	ClinGen ExAC gnomAD
CA381585986 rs1590815946	564	H>P		No	ClinGen Ensembl
CA6147242 rs561371280	565	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1425184184 CA381586113	568	L>V		No	ClinGen TOPMed
CA381586296 rs1245633475	573	E>D		No	ClinGen gnomAD
CA381586307 rs1205816098	574	L>V		No	ClinGen TOPMed
rs1477831442 CA381586338	575	T>I		No	ClinGen TOPMed gnomAD
CA6147249 rs776415315	578	L>P		No	ClinGen ExAC gnomAD
CA6147250 rs144442205	579	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs955211475 CA224209679	581	F>S		No	ClinGen Ensembl
rs752454557 CA6147253	582	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1321763798 CA381586578	584	L>F		No	ClinGen gnomAD
CA224209701 rs957040011	585	V>A		No	ClinGen Ensembl
CA224209693 rs1017992764	585	V>M		No	ClinGen TOPMed gnomAD
rs756319746 CA6147258	588	V>A		No	ClinGen ExAC gnomAD
CA6147257 rs750507912	588	V>I		No	ClinGen ExAC gnomAD
rs1319607584 CA381586691	590	Y>H		No	ClinGen TOPMed
CA6147264 rs779298401	594	C>F		No	ClinGen ExAC TOPMed gnomAD
rs755179425 CA6147261	594	C>G		No	ClinGen ExAC gnomAD
rs779298401 CA6147263	594	C>S		No	ClinGen ExAC TOPMed gnomAD
CA6147265 rs773769785	594	C>W		No	ClinGen ExAC gnomAD
CA6147262 rs779298401	594	C>Y		No	ClinGen ExAC TOPMed gnomAD
rs1488352542 CA381586804	595	V>I		No	ClinGen gnomAD
rs1389467156 CA381586851	596	W>C		No	ClinGen TOPMed
CA381586878 rs1477471317	597	A>V		No	ClinGen gnomAD
rs1291278409 CA381586880	598	A>T		No	ClinGen TOPMed
rs1188086312 CA381586905	598	A>V		No	ClinGen gnomAD
rs199995618 CA381586945	601	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6147270 rs199995618	601	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6147272 rs766619297	602	S>L		No	ClinGen ExAC TOPMed gnomAD
rs1590816220 CA381586971	603	A>P		No	ClinGen Ensembl
rs1300141877 CA381586984	603	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA381587000 rs764109110	604	P>L		No	ClinGen ExAC TOPMed gnomAD
CA6147274 rs764109110	604	P>R		No	ClinGen ExAC TOPMed gnomAD
CA224209760 rs929393555	605	S>G		No	ClinGen TOPMed
TCGA novel	605	S>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA381587027 rs1382164195	605	S>N		No	ClinGen gnomAD
rs1243069840 CA381587067	607	L>P		No	ClinGen gnomAD
rs147580611 CA6147276	610	F>S		No	ClinGen ESP ExAC gnomAD
CA224209782 rs374966103	614	F>L		No	ClinGen ESP ExAC gnomAD
rs1048224617 CA224209803	616	F>Y		No	ClinGen TOPMed gnomAD
CA381587310 rs1250308319	619	S>T		No	ClinGen gnomAD
rs1421877519 CA381587376	621	S>N		No	ClinGen gnomAD
CA224209817 rs890458493	621	S>R		No	ClinGen TOPMed gnomAD
CA6147280 rs779053640	623	R>K		No	ClinGen ExAC TOPMed gnomAD
CA6147281 rs748503466	624	L>P		No	ClinGen ExAC gnomAD
CA381587445 rs1380629407	624	L>V		No	ClinGen gnomAD
CA6147284 rs370340623	626	Y>S		No	ClinGen ESP ExAC gnomAD
rs1855668626 RCV001228535	628	R>missing		No	ClinVar dbSNP
rs201661352 CA224209840	628	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs369197157 CA6147286	628	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA224209842 rs895239701	629	Q>E		No	ClinGen Ensembl
CA6147314 rs761750639	630	E>Q		No	ClinGen ExAC gnomAD
CA6147315 rs367697163	630	E>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs773093690 CA6147316	631	V>A		No	ClinGen ExAC gnomAD
rs760670339 CA6147317	632	V>I		No	ClinGen ExAC gnomAD
CA381588690 rs1278836574	634	A>D		No	ClinGen gnomAD
rs763119311 CA381588696	635	T>K		No	ClinGen ExAC TOPMed gnomAD
rs1222653269 CA381588722	638	V>G		No	ClinGen gnomAD
rs145538370 CA6147322	640	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA6147323 rs757615984	643	M>T		No	ClinGen ExAC gnomAD
CA381588783 rs1185247110	644	V>E		No	ClinGen gnomAD
rs745312710 CA6147324	644	V>M		No	ClinGen ExAC TOPMed gnomAD
rs750828204 CA6147325	650	G>D		No	ClinGen ExAC gnomAD
rs1424735626 CA381588865	652	P>L		No	ClinGen gnomAD
CA224212998 rs1039628264	654	H>N		No	ClinGen TOPMed
CA381588884 rs1480857464	654	H>R		No	ClinGen TOPMed
CA381588876 rs1039628264	654	H>Y		No	ClinGen TOPMed
rs779659562 CA6147327	655	L>R		No	ClinGen ExAC gnomAD
rs560975163 CA6147328	657	H>Y		No	ClinGen 1000Genomes ExAC gnomAD
rs769231419 CA6147330 RCV000658611	658	R>C		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA6147332 rs747971622	658	R>H		No	ClinGen ExAC TOPMed gnomAD
rs769231419 CA6147331	658	R>S		No	ClinGen ExAC TOPMed gnomAD
rs771700981 CA6147333	659	H>D		No	ClinGen ExAC TOPMed gnomAD
CA381588935 rs1229818208	659	H>Q		No	ClinGen gnomAD
rs771700981 CA381588928	659	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA6147335 rs528045019	660	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs746874956 CA381588945	660	R>P		No	ClinGen ExAC TOPMed gnomAD
rs770889100 CA6147337	661	R>C		No	ClinGen ExAC TOPMed gnomAD
rs775514573 CA6147338	661	R>H		No	ClinGen ExAC TOPMed gnomAD
CA381588956 rs1489283351	662	R>C		No	ClinGen gnomAD
rs763065648 CA6147340	662	R>L		No	ClinGen ExAC gnomAD
rs745846239 CA381588975	664	R>P		No	ClinGen ExAC TOPMed gnomAD
rs745846239 CA6147342	664	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs774622771 CA6147341	664	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1383705011 CA381588998	666	R>M		No	ClinGen gnomAD
rs1443668367 CA381589007	667	P>L		No	ClinGen TOPMed gnomAD
CA224213048 rs1035345972	667	P>T		No	ClinGen Ensembl
rs756549710 CA6147345	668	A>T		No	ClinGen ExAC TOPMed gnomAD
CA381589033 rs1317637638	669	D>E		No	ClinGen gnomAD
rs753385752 CA6147347	670	R>P		No	ClinGen ExAC TOPMed gnomAD
CA6147348 rs753385752	670	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs778574482 CA6147349	671	Q>R		No	ClinGen ExAC gnomAD
rs1565163965 CA381589152	672	E>K		No	ClinGen Ensembl
CA224213174 rs914510990	673	E>K		No	ClinGen TOPMed
rs1269457075 CA381589258	677	G>E		No	ClinGen gnomAD
rs748654590 CA6147370	677	G>R		No	ClinGen ExAC TOPMed gnomAD
CA381589288 rs1393973727	678	L>F		No	ClinGen gnomAD
TCGA novel	680	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	682	P>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1331796670 CA381589365	683	D>A		No	ClinGen gnomAD
rs371004770 CA6147373	683	D>H		No	ClinGen ESP ExAC gnomAD
CA224213198 rs550481991	684	A>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
COSM1356487 CA6147375 rs550481991	684	A>T	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
RCV000486632 rs1554999769	685	S>missing		No	ClinVar dbSNP
rs769744202 CA6147376	685	S>C		No	ClinGen ExAC TOPMed gnomAD
CA381589419 rs1219714069	686	V>G		No	ClinGen TOPMed gnomAD
CA381589440 rs1272321760	687	N>K		No	ClinGen gnomAD
CA381589488 rs1194921647	690	S>N		No	ClinGen gnomAD
rs748310767 CA6147378	690	S>R		No	ClinGen ExAC TOPMed gnomAD
rs930344541 CA381589519	692	D>H		No	ClinGen TOPMed gnomAD
rs930344541 CA224213219	692	D>N		No	ClinGen TOPMed gnomAD
rs894118567 CA224213233	697	G>R		No	ClinGen TOPMed gnomAD
TCGA novel	698	G>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1012603909 CA381589653	698	G>A		No	ClinGen gnomAD
CA224213234 rs1012603909	698	G>D		No	ClinGen gnomAD
CA381589685 rs760982478	700	D>H		No	ClinGen ExAC TOPMed gnomAD
CA6147381 rs760982478	700	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs771368616 CA6147382	702	E>D		No	ClinGen ExAC
CA381589774 rs1322367444	704	E>A		No	ClinGen gnomAD
CA6147383 rs777162856	704	E>D		No	ClinGen ExAC gnomAD
CA381589769 rs1167628217	704	E>Q		No	ClinGen gnomAD
rs200160870 CA6147385	706	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6147410 rs756005324	707	L>F		No	ClinGen ExAC gnomAD
CA381589987 rs573002924	708	V>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs151127006 CA6147415	709	P>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA6147414 rs151127006	709	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA6147413 rs754898144	709	P>S		No	ClinGen ExAC gnomAD
rs746227782 CA6147418	711	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA381590063 rs1590818348	712	V>G		No	ClinGen Ensembl
CA381590054 rs1242757275	712	V>M		No	ClinGen TOPMed gnomAD
rs1440457949 CA381590082	713	L>F		No	ClinGen TOPMed gnomAD
rs141095902 CA6147419	717	A>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA381590201 rs1362065863	717	A>P		No	ClinGen gnomAD
rs141095902 CA6147420	717	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6147424 COSM931187 rs150260808	721	I>T	endometrium [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA6147426 rs148921764	722	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA224213481 rs948504340	726	G>A		No	ClinGen Ensembl
rs201017845 CA381590447	727	C>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6147429 rs766150062	728	V>A		No	ClinGen ExAC TOPMed gnomAD
rs145723719 COSM1228784 CA6147428	728	V>I	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA224213506 rs200209146	730	N>S		No	ClinGen 1000Genomes
rs754915625 CA6147431	731	T>A		No	ClinGen ExAC gnomAD
rs754915625 CA381590523	731	T>P		No	ClinGen ExAC gnomAD
rs765318969 CA6147432	731	T>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	732	A>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6147434 rs138305091	732	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA381590579 rs1248534307	733	S>F		No	ClinGen gnomAD
rs776862858 CA224213519	735	L>P		No	ClinGen Ensembl
rs1432069667 CA381590639	736	R>H		No	ClinGen TOPMed gnomAD
rs1344387953 CA381590650	737	L>V		No	ClinGen gnomAD
CA6147440 rs769184155	741	S>N		No	ClinGen ExAC TOPMed gnomAD
rs1420437252 CA381590850	745	A>T		No	ClinGen TOPMed
rs1487087248 CA381590978	746	Q>H		No	ClinGen TOPMed gnomAD
CA381590999 rs1444896718	748	S>C		No	ClinGen gnomAD
rs1389957718 CA381591019	749	E>K		No	ClinGen TOPMed gnomAD
TCGA novel	753	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	753	A>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6147471 rs762940517	754	M>T		No	ClinGen ExAC gnomAD
CA6147472 rs764166086	755	V>L		No	ClinGen ExAC gnomAD
CA6147475 rs766485756	756	M>I		No	ClinGen ExAC TOPMed
CA6147474 rs760723665	756	M>T		No	ClinGen ExAC gnomAD
rs750493196 CA6147473	756	M>V		No	ClinGen ExAC gnomAD
CA6147476 rs142606750	757	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA6147477 rs755217536	757	R>H		No	ClinGen ExAC TOPMed gnomAD
CA381591194 rs142606750	757	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs779210926 CA6147479	758	I>V		No	ClinGen ExAC
CA6147483 rs778205590	761	G>R		No	ClinGen ExAC gnomAD
TCGA novel	763	G>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA381591340 rs1319255953	763	G>R		No	ClinGen TOPMed gnomAD
CA6147488 rs769598662	764	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA6147487 rs374229841	764	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6147489 TCGA novel rs775393308	765	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen ExAC TOPMed gnomAD
TCGA novel	765	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6147490 rs749143223	766	V>A		No	ClinGen ExAC gnomAD
rs749143223 CA381591431	766	V>G		No	ClinGen ExAC gnomAD
rs1240877342 CA381591410	766	V>M		No	ClinGen gnomAD
rs749982899 CA6147492	768	V>M		No	ClinGen ExAC TOPMed gnomAD
CA381591486 rs1398908286	769	A>T		No	ClinGen gnomAD
CA6147493 rs200683259	769	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA381591541 rs1334689643	771	V>G		No	ClinGen TOPMed
CA381591556 rs1590819299	772	V>G		No	ClinGen Ensembl
rs765495869 CA6147497	773	L>P		No	ClinGen ExAC gnomAD
CA6147499 rs758832305	774	V>F		No	ClinGen ExAC gnomAD
CA6147501 rs377635476	778	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs201370342 CA6147504	779	A>T		No	ClinGen 1000Genomes ExAC gnomAD
CA381591723 rs1565165071	779	A>V		No	ClinGen Ensembl
TCGA novel	781	A>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	781	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs370231613 CA6147509	783	M>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA381591771 rs1176618015	783	M>L		No	ClinGen gnomAD
TCGA novel	784	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6147510 rs774219477	784	T>I		No	ClinGen ExAC
rs572954334 CA6147512	785	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	786	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1329759639 CA381591893	788	L>V		No	ClinGen gnomAD
rs1189520104	792	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA381592021 rs1273855464	792	E>K		No	ClinGen TOPMed gnomAD
TCGA novel	792	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs765444519 CA6147516	793	G>R		No	ClinGen ExAC gnomAD
CA381592081 rs1437462228	793	G>V		No	ClinGen TOPMed gnomAD
CA381592092 rs1225851758	794	L>H		No	ClinGen gnomAD
CA381592095 rs1225851758	794	L>P		No	ClinGen gnomAD
CA224213806 rs1027201325	795	S>P		No	ClinGen TOPMed gnomAD
rs775626939 CA6147517	796	A>V		No	ClinGen ExAC gnomAD
rs1565165023	797	F>L		No	Ensembl
rs764312517 CA6147519 COSM1356489	800	A>T	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs751983355 CA6147520	800	A>V		No	ClinGen ExAC gnomAD
rs757671003 CA6147521	802	R>Q	Variant assessed as Somatic; 4.729e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs377750765 CA224213825	804	H>Q		No	ClinGen Ensembl
rs1057100315 CA224213887	807	E>K		No	ClinGen TOPMed
rs1426622389 CA381592600	809	Q>H		No	ClinGen gnomAD
rs753440883 CA6147546	809	Q>R		No	ClinGen ExAC gnomAD
rs1162287088 CA381592622	810	N>S		No	ClinGen gnomAD
CA224213895 rs1043254769	811	K>N		No	ClinGen TOPMed gnomAD
CA224213899 rs904593138	813	Y>*		No	ClinGen Ensembl
CA6147549 rs778688282	816	T>K		No	ClinGen ExAC TOPMed gnomAD
CA6147548 rs778688282	816	T>M		No	ClinGen ExAC TOPMed gnomAD
rs1338749193 CA381592889	818	Y>H		No	ClinGen TOPMed gnomAD
rs777562279 CA6147551	819	K>R		No	ClinGen ExAC gnomAD
rs746896827 CA6147553	820	L>P		No	ClinGen ExAC gnomAD
rs746896827 CA381592959	820	L>Q		No	ClinGen ExAC gnomAD
TCGA novel	821	S>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA381593027 rs1222304995	822	P>L		No	ClinGen Ensembl
rs1264287480 CA381593015	822	P>S		No	ClinGen TOPMed gnomAD
rs1590819893 CA381593083	824	T>P		No	ClinGen Ensembl
rs780073935 CA6147555	828	T>I		No	ClinGen ExAC gnomAD
CA381593336 rs1243962399	831	D>W		No	ClinGen gnomAD

1 associated diseases with Q13488

[MIM: 259700]: Osteopetrosis, autosomal recessive 1 (OPTB1)

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

Without disease ID

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

No regional properties for Q13488

Type	Name	Position	InterPro Accession
No domain, repeats, and functional sites for Q13488

Functions

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

12 GO annotations of cellular component

Name	Definition
apical plasma membrane	The region of the plasma membrane located at the apical end of the cell.
endosome membrane	The lipid bilayer surrounding an endosome.
ficolin-1-rich granule membrane	The lipid bilayer surrounding a ficolin-1-rich granule.
integral component of plasma membrane	The component of the plasma membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.
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.
lysosomal membrane	The lipid bilayer surrounding the lysosome and separating its contents from the cell cytoplasm.
nucleus	A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.
phagocytic vesicle membrane	The lipid bilayer surrounding a phagocytic vesicle.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
proton-transporting V-type ATPase complex	A proton-transporting two-sector ATPase complex that couples ATP hydrolysis to the transport of protons across a concentration gradient. The resulting transmembrane electrochemical potential of H+ is used to drive a variety of (i) secondary active transport systems via H+-dependent symporters and antiporters and (ii) channel-mediated transport systems. The complex comprises a membrane sector (V0) that carries out proton transport and a cytoplasmic compartment sector (V1) that catalyzes ATP hydrolysis. V-type ATPases are found in the membranes of organelles such as vacuoles, endosomes, and lysosomes, and in the plasma membrane.
vacuolar proton-transporting V-type ATPase complex	A proton-transporting two-sector ATPase complex found in the vacuolar membrane, where it acts as a proton pump to mediate acidification of the vacuolar lumen.
vacuolar proton-transporting V-type ATPase, V0 domain	The V0 domain of a proton-transporting V-type ATPase found in the vacuolar membrane.

2 GO annotations of molecular function

Name	Definition
ATPase binding	Binding to an ATPase, any enzyme that catalyzes the hydrolysis of ATP.
proton-transporting ATPase activity, rotational mechanism	Enables the transfer of protons from one side of a membrane to the other according to the reaction: ATP + H2O + H+(in) = ADP + phosphate + H+(out), by a rotational mechanism.

40 GO annotations of biological process

Name	Definition
apoptotic process	A programmed cell death process which begins when a cell receives an internal (e.g. DNA damage) or external signal (e.g. an extracellular death ligand), and proceeds through a series of biochemical events (signaling pathway phase) which trigger an execution phase. The execution phase is the last step of an apoptotic process, and is typically characterized by rounding-up of the cell, retraction of pseudopodes, reduction of cellular volume (pyknosis), chromatin condensation, nuclear fragmentation (karyorrhexis), plasma membrane blebbing and fragmentation of the cell into apoptotic bodies. When the execution phase is completed, the cell has died.
autophagosome assembly	The formation of a double membrane-bounded structure, the autophagosome, that occurs when a specialized membrane sac, called the isolation membrane, starts to enclose a portion of the cytoplasm.
B cell differentiation	The process in which a precursor cell type acquires the specialized features of a B cell. A B cell is a lymphocyte of B lineage with the phenotype CD19-positive and capable of B cell mediated immunity.
bone resorption	The process in which specialized cells known as osteoclasts degrade the organic and inorganic portions of bone, and endocytose and transport the degradation products.
cellular calcium ion homeostasis	Any process involved in the maintenance of an internal steady state of calcium ions at the level of a cell.
cellular defense response	A defense response that is mediated by cells.
cellular response to cytokine stimulus	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a cytokine stimulus.
dentin mineralization	The process in which calcium salts are deposited into the calcareous tooth structure known as dentin.
enamel mineralization	The process in which calcium salts, mainly carbonated hydroxyapatite, are deposited in tooth enamel.
establishment of cell polarity	The specification and formation of anisotropic intracellular organization or cell growth patterns.
establishment of vesicle localization	The directed movement of a vesicle to a specific location.
gene expression	The process in which a gene's sequence is converted into a mature gene product (protein or RNA). This includes the production of an RNA transcript and its processing, translation and maturation for protein-coding genes.
hematopoietic stem cell homeostasis	Any biological process involved in the maintenance of the steady-state number of hematopoietic stem cells within a population of cells.
immunoglobulin mediated immune response	An immune response mediated by immunoglobulins, whether cell-bound or in solution.
inflammatory response	The immediate defensive reaction (by vertebrate tissue) to infection or injury caused by chemical or physical agents. The process is characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages.
lysosomal lumen acidification	Any process that reduces the pH of the lysosomal lumen, measured by the concentration of the hydrogen ion.
macroautophagy	The major inducible pathway for the general turnover of cytoplasmic constituents in eukaryotic cells, it is also responsible for the degradation of active cytoplasmic enzymes and organelles during nutrient starvation. Macroautophagy involves the formation of double-membrane-bounded autophagosomes which enclose the cytoplasmic constituent targeted for degradation in a membrane-bounded structure. Autophagosomes then fuse with a lysosome (or vacuole) releasing single-membrane-bounded autophagic bodies that are then degraded within the lysosome (or vacuole). Some types of macroautophagy, e.g. pexophagy, mitophagy, involve selective targeting of the targets to be degraded.
memory T cell activation	The change in morphology and behavior of a memory T cell resulting from exposure to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific.
optic nerve development	The process whose specific outcome is the progression of the optic nerve over time, from its formation to the mature structure. The sensory optic nerve originates from the bipolar cells of the retina and conducts visual information to the brainstem. The optic nerve exits the back of the eye in the orbit, enters the optic canal, and enters the central nervous system at the optic chiasm (crossing) where the nerve fibers become the optic tract just prior to entering the hindbrain.
ossification	The formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance.
osteoclast differentiation	The process in which a relatively unspecialized monocyte acquires the specialized features of an osteoclast. An osteoclast is a specialized phagocytic cell associated with the absorption and removal of the mineralized matrix of bone tissue.
osteoclast proliferation	The multiplication or reproduction of osteoclasts, resulting in the expansion of an osteoclast cell population. An osteoclast is a specialized phagocytic cell associated with the absorption and removal of the mineralized matrix of bone tissue, which typically differentiates from monocytes.
pH reduction	Any process that reduces the internal pH of an organism, part of an organism or a cell, measured by the concentration of the hydrogen ion.
phagosome acidification	Any process that reduces the pH of the phagosome, measured by the concentration of the hydrogen ion.
positive regulation of cell population proliferation	Any process that activates or increases the rate or extent of cell proliferation.
protein catabolic process in the vacuole	The chemical reactions and pathways resulting in the breakdown of a protein in the vacuole, usually by the action of vacuolar proteases.
protein localization to organelle	A process in which a protein is transported to, or maintained in, a location within an organelle.
proton transmembrane transport	The directed movement of a proton across a membrane.
regulation of gene expression	Any process that modulates the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA).
regulation of insulin secretion	Any process that modulates the frequency, rate or extent of the regulated release of insulin.
regulation of osteoblast differentiation	Any process that modulates the frequency, rate or extent of osteoblast differentiation.
regulation of proton transport	Any process that modulates the frequency, rate or extent of proton transport into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.
response to silver ion	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 silver ion stimulus.
retina development in camera-type eye	The process whose specific outcome is the progression of the retina over time, from its formation to the mature structure. The retina is the innermost layer or coating at the back of the eyeball, which is sensitive to light and in which the optic nerve terminates.
ruffle organization	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a ruffle, a projection at the leading edge of a crawling cell.
T cell differentiation	The process in which a precursor cell type acquires characteristics of a more mature T-cell. A T cell is a type of lymphocyte whose definin characteristic is the expression of a T cell receptor complex.
T cell homeostasis	The process of regulating the proliferation and elimination of T cells such that the total number of T cells within a whole or part of an organism is stable over time in the absence of an outside stimulus.
T-helper 1 cell activation	The change in morphology and behavior of a T-helper 1 cell resulting from exposure to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific.
tooth eruption	The tooth development process in which the teeth enter the mouth and become visible.
vacuolar acidification	Any process that reduces the pH of the vacuole, measured by the concentration of the hydrogen ion.

16 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P32563	VPH1	V-type proton ATPase subunit a, vacuolar isoform	Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast)	PR
Q29466	ATP6V0A1	V-type proton ATPase 116 kDa subunit a 1	Bos taurus (Bovine)	PR
O97681	ATP6V0A2	V-type proton ATPase 116 kDa subunit a 2	Bos taurus (Bovine)	PR
Q9I8D0	ATP6V0A1	V-type proton ATPase 116 kDa subunit a 1	Gallus gallus (Chicken)	PR
Q9HBG4	ATP6V0A4	V-type proton ATPase 116 kDa subunit a 4	Homo sapiens (Human)	PR
Q9Y487	ATP6V0A2	V-type proton ATPase 116 kDa subunit a 2	Homo sapiens (Human)	PR
Q93050	ATP6V0A1	V-type proton ATPase 116 kDa subunit a 1	Homo sapiens (Human)	PR
P15920	Atp6v0a2	V-type proton ATPase 116 kDa subunit a 2	Mus musculus (Mouse)	PR
Q920R6	Atp6v0a4	V-type proton ATPase 116 kDa subunit a 4	Mus musculus (Mouse)	PR
Q9Z1G4	Atp6v0a1	V-type proton ATPase 116 kDa subunit a 1	Mus musculus (Mouse)	PR
P25286	Atp6v0a1	V-type proton ATPase 116 kDa subunit a 1	Rattus norvegicus (Rat)	PR
P30628	unc-32	V-type proton ATPase 116 kDa subunit a 1	Caenorhabditis elegans	PR
Q8RWZ7	VHA-a1	V-type proton ATPase subunit a1	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9SJT7	VHA-a2	V-type proton ATPase subunit a2	Arabidopsis thaliana (Mouse-ear cress)	PR
Q8W4S4	VHA-a3	V-type proton ATPase subunit a3	Arabidopsis thaliana (Mouse-ear cress)	PR
A1A5G6	atp6v0a1	V-type proton ATPase 116 kDa subunit a 1	Xenopus tropicalis (Western clawed frog) (Silurana tropicalis)	PR

10	20	30	40	50	60
MGSMFRSEEV	ALVQLFLPTA	AAYTCVSRLG	ELGLVEFRDL	NASVSAFQRR	FVVDVRRCEE
70	80	90	100	110	120
LEKTFTFLQE	EVRRAGLVLP	PPKGRLPAPP	PRDLLRIQEE	TERLAQELRD	VRGNQQALRA
130	140	150	160	170	180
QLHQLQLHAA	VLRQGHEPQL	AAAHTDGASE	RTPLLQAPGG	PHQDLRVNFV	AGAVEPHKAP
190	200	210	220	230	240
ALERLLWRAC	RGFLIASFRE	LEQPLEHPVT	GEPATWMTFL	ISYWGEQIGQ	KIRKITDCFH
250	260	270	280	290	300
CHVFPFLQQE	EARLGALQQL	QQQSQELQEV	LGETERFLSQ	VLGRVLQLLP	PGQVQVHKMK
310	320	330	340	350	360
AVYLALNQCS	VSTTHKCLIA	EAWCSVRDLP	ALQEALRDSS	MEEGVSAVAH	RIPCRDMPPT
370	380	390	400	410	420
LIRTNRFTAS	FQGIVDAYGV	GRYQEVNPAP	YTIITFPFLF	AVMFGDVGHG	LLMFLFALAM
430	440	450	460	470	480
VLAENRPAVK	AAQNEIWQTF	FRGRYLLLLM	GLFSIYTGFI	YNECFSRATS	IFPSGWSVAA
490	500	510	520	530	540
MANQSGWSDA	FLAQHTMLTL	DPNVTGVFLG	PYPFGIDPIW	SLAANHLSFL	NSFKMKMSVI
550	560	570	580	590	600
LGVVHMAFGV	VLGVFNHVHF	GQRHRLLLET	LPELTFLLGL	FGYLVFLVIY	KWLCVWAARA
610	620	630	640	650	660
ASAPSILIHF	INMFLFSHSP	SNRLLYPRQE	VVQATLVVLA	LAMVPILLLG	TPLHLLHRHR
670	680	690	700	710	720
RRLRRRPADR	QEENKAGLLD	LPDASVNGWS	SDEEKAGGLD	DEEEAELVPS	EVLMHQAIHT
730	740	750	760	770	780
IEFCLGCVSN	TASYLRLWAL	SLAHAQLSEV	LWAMVMRIGL	GLGREVGVAA	VVLVPIFAAF
790	800	810	820
AVMTVAILLV	MEGLSAFLHA	LRLHWVEFQN	KFYSGTGYKL	SPFTFAATDD