AiPD: Autoinhibited Protein Database

P98198

Gene name	ATP8B2
Protein name	Phospholipid-transporting ATPase ID
Names	ATPase class I type 8B member 2, P4-ATPase flippase complex alpha subunit ATP8B2
Species	Homo sapiens (Human)
KEGG Pathway	hsa:57198
EC number	7.6.2.1: Linked to the hydrolysis of a nucleoside triphosphate
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-74 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-74 (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 P98198

Entry ID	Method	Resolution	Chain	Position	Source
AF-P98198-F1	Predicted				AlphaFoldDB

767 variants for P98198

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA526397383 rs1473414018	2	T>M		No	ClinGen gnomAD
rs545002534 CA1127815	3	V>I		No	ClinGen 1000Genomes ExAC gnomAD
rs1459877738 CA889571136	4	P>L		No	ClinGen TOPMed
CA526397385 rs1401354173	4	P>S		No	ClinGen gnomAD
rs868722615 CA30812717	5	K>R		No	ClinGen gnomAD
rs1257672523 CA889571144	6	E>K		No	ClinGen TOPMed
CA526397386 rs1335583840	8	P>S		No	ClinGen gnomAD
CA889571152 rs1210634341	9	E>D		No	ClinGen TOPMed
CA1127816 rs759203684	9	E>K		No	ClinGen ExAC gnomAD
CA30812719 rs182212267	13	R>Q		No	ClinGen 1000Genomes TOPMed gnomAD
CA526397388 rs1351953162	14	A>T		No	ClinGen gnomAD
CA526397389 rs1289393020	16	A>T		No	ClinGen gnomAD
rs1215912438 CA889571182	17	P>L		No	ClinGen TOPMed
CA526397391 rs1199280476	17	P>S		No	ClinGen gnomAD
rs1015014706 CA30812745	18	P>A		No	ClinGen TOPMed
CA889571191 rs1313665324	22	R>P		No	ClinGen TOPMed
CA889571186 rs1313665324	22	R>Q		No	ClinGen TOPMed
rs766974923 CA1127817	23	K>E		No	ClinGen ExAC gnomAD
rs752246566 CA1127818	26	S>T		No	ClinGen ExAC gnomAD
rs1249845662 CA526397393	28	G>A		No	ClinGen TOPMed gnomAD
rs1249845662 CA526397392	28	G>E		No	ClinGen TOPMed gnomAD
CA1127819 rs761141377	28	G>R		No	ClinGen ExAC TOPMed gnomAD
CA1127834 rs368910102 COSM1334410	35	A>V	Variant assessed as Somatic; 0.0 impact. large_intestine skin [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA1127836 rs759176827	36	R>Q		No	ClinGen ExAC gnomAD
rs1424511928 CA342618340 COSM3689024	36	R>W	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs12077882 CA30813543	37	A>G		No	ClinGen Ensembl
rs1570847793 CA342618375	37	A>T		No	ClinGen Ensembl
rs771740360 CA1127837	39	D>N		No	ClinGen ExAC gnomAD
CA342618499 rs1166143601	40	R>*		No	ClinGen TOPMed gnomAD
CA1127838 rs149978531	40	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA342618515 rs1429991855	41	E>K		No	ClinGen gnomAD
CA1127839 rs760197000	42	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA342618594 rs1304333023	44	E>K		No	ClinGen TOPMed
CA1127840 rs200836965	49	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs141275731 CA1127858	52	C>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs768331419 CA1127859	53	I>L		No	ClinGen ExAC gnomAD
rs1335241224 CA342619011	53	I>M		No	ClinGen TOPMed
rs1253516437 CA342618980	53	I>N		No	ClinGen gnomAD
rs1570848687 CA342619063	55	T>P		No	ClinGen Ensembl
CA1127861 rs762480331	56	S>F		No	ClinGen ExAC gnomAD
rs554905339 CA1127862	57	K>R		No	ClinGen 1000Genomes ExAC gnomAD
CA342619292 rs1570848719	62	T>P		No	ClinGen Ensembl
CA342619393 rs1391405019	65	P>L		No	ClinGen gnomAD
CA1127864 rs763333101	65	P>S		No	ClinGen ExAC gnomAD
CA1127865 rs766528266	67	N>S		No	ClinGen ExAC TOPMed gnomAD
CA342619423 rs766528266	67	N>T		No	ClinGen ExAC TOPMed gnomAD
rs146860968 CA1127867	68	L>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA342619430 rs146860968	68	L>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1313650684 CA342619533	72	F>L		No	ClinGen gnomAD
CA1127870 rs757197837	75	V>I		No	ClinGen ExAC gnomAD
rs778845759 CA1127871	78	T>A		No	ClinGen ExAC gnomAD
rs1210988650 CA342619906	85	I>F		No	ClinGen gnomAD
CA30813891 rs890289113	85	I>M		No	ClinGen Ensembl
rs765111574 CA1127891	89	I>S		No	ClinGen ExAC gnomAD
rs750424336 CA1127892	90	P>L		No	ClinGen ExAC gnomAD
CA342620276 rs1170660456	95	L>V		No	ClinGen gnomAD
CA1127895 rs751391161	100	T>A		No	ClinGen ExAC TOPMed gnomAD
rs1441594975 CA342620486	101	I>S		No	ClinGen gnomAD
rs200971904 CA1127896	101	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1127897 rs780949529	105	V>G		No	ClinGen ExAC gnomAD
rs747680576 CA1127898	107	V>F		No	ClinGen ExAC gnomAD
CA1127900 rs777113433	116	A>V		No	ClinGen ExAC gnomAD
rs1221269615 CA342621367	119	D>N		No	ClinGen gnomAD
rs1194867905 CA342621396	120	Y>C		No	ClinGen TOPMed gnomAD
rs749872657 CA1127902	120	Y>H		No	ClinGen ExAC gnomAD
rs1194867905 CA342621400	120	Y>S		No	ClinGen TOPMed gnomAD
rs1197080499 CA342621539	122	R>H		No	ClinGen TOPMed
CA1127928 rs761735740	124	K>Q		No	ClinGen ExAC gnomAD
CA342621585 rs1480644463	125	S>T		No	ClinGen TOPMed
rs774477136 CA1127930	128	Q>R		No	ClinGen ExAC gnomAD
rs1441851006 CA342621670	129	V>M		No	ClinGen gnomAD
rs759511547 CA1127931	131	N>T		No	ClinGen ExAC gnomAD
CA342621732 rs1570849903	132	R>C		No	ClinGen Ensembl
rs1259824646 CA342621735	132	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA342621737 rs1259824646	132	R>L		No	ClinGen TOPMed gnomAD
CA1127932 rs35594009	135	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1350140831 CA342621838	136	V>L		No	ClinGen TOPMed
CA30814417 rs929020637	139	N>D		No	ClinGen Ensembl
CA342621959 rs1397256524	140	G>R		No	ClinGen TOPMed
CA1127951 rs775359836	146	Q>*		No	ClinGen ExAC gnomAD
rs1411960404 CA342622363	147	W>C		No	ClinGen gnomAD
rs1398187690 CA342622355	147	W>L		No	ClinGen gnomAD
rs1054414620 CA30814512	154	D>G		No	ClinGen Ensembl
CA342622606 rs1438797338	155	I>V		No	ClinGen TOPMed
rs150602180 CA1127955	161	N>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs185865422 CA1127956	161	N>K		No	ClinGen 1000Genomes ExAC gnomAD
rs1434129851 CA342622848	162	Q>E		No	ClinGen TOPMed
rs1371749328 CA342622860	162	Q>L		No	ClinGen gnomAD
CA1127958 rs374107478	163	F>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs776939812 CA1127959 COSM1334415	165	A>V	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1447213490 CA342623094	166	A>V		No	ClinGen gnomAD
CA342623166 rs1366357349	168	L>V		No	ClinGen gnomAD
rs995105575 CA30814768	169	L>F		No	ClinGen TOPMed
rs1167581990 CA342623209	170	L>F		No	ClinGen gnomAD
CA1127979 rs755502333 COSM1668007	171	L>F	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA1127978 rs755502333 COSM1688671	171	L>I	skin [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1298081916 CA342623274	172	S>T		No	ClinGen gnomAD
rs753050828 CA1127980	176	P>S		No	ClinGen ExAC
CA1127981 rs756407868	177	H>Y		No	ClinGen ExAC gnomAD
rs1387311198 CA342623640	178	G>R		No	ClinGen gnomAD
CA342623775 rs1333673684	182	I>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA342624125 rs1480470665	190	E>K		No	ClinGen gnomAD
CA1127997 rs759970744	192	N>S		No	ClinGen ExAC TOPMed gnomAD
CA342624225 rs1253223199	193	M>I		No	ClinGen gnomAD
CA1127998 rs768000646	196	R>C		No	ClinGen ExAC TOPMed gnomAD
CA30815103 rs981632475	196	R>H		No	ClinGen TOPMed gnomAD
rs981632475 CA342624315	196	R>L		No	ClinGen TOPMed gnomAD
COSM1184174 rs1393418645 COSM167189 CA342624355	198	A>V	Variant assessed as Somatic; 0.0 impact. large_intestine breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs754154734 CA1128002	201	V>A		No	ClinGen ExAC gnomAD
CA1128001 rs778259766	201	V>L		No	ClinGen ExAC TOPMed gnomAD
CA30815126 rs937363337	202	T>I		No	ClinGen TOPMed gnomAD
CA1128003 rs757497332	203	S>P		No	ClinGen ExAC TOPMed gnomAD
CA1128005 rs745904972	205	L>S		No	ClinGen ExAC gnomAD
rs1234385985 CA342624537	206	G>E		No	ClinGen gnomAD
CA342624603 rs1187346035	208	I>M		No	ClinGen gnomAD
rs1305424590 CA342624571	208	I>V		No	ClinGen gnomAD
rs1202836471 CA342624637	210	K>E		No	ClinGen gnomAD
rs576546996 CA1128008	211	L>F		No	ClinGen 1000Genomes ExAC gnomAD
rs1419892494 CA342624649	211	L>P		No	ClinGen TOPMed
CA342624677 rs1387792234	215	D>V		No	ClinGen gnomAD
rs1195037412 CA342625070	216	G>D		No	ClinGen TOPMed
rs769630285 CA342624681	216	G>R		No	ClinGen ExAC TOPMed gnomAD
rs769630285 CA1128009	216	G>S		No	ClinGen ExAC TOPMed gnomAD
CA1128027 rs756029051	217	E>A		No	ClinGen ExAC gnomAD
CA1128028 rs777553967	218	V>M		No	ClinGen ExAC gnomAD
rs1319297900 CA342625124	220	C>R		No	ClinGen gnomAD
rs1456226130 CA342625153	221	E>K		No	ClinGen TOPMed
rs770519651 CA1128030	222	P>L		No	ClinGen ExAC TOPMed gnomAD
rs759998962 CA30816355	223	P>L		No	ClinGen Ensembl
rs774004907 CA1128031	224	N>K		No	ClinGen ExAC gnomAD
rs745486480 CA1128032	227	L>Q		No	ClinGen ExAC TOPMed gnomAD
CA1128035 rs183136294	228	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA342625294 rs1246326528	229	K>N		No	ClinGen TOPMed
rs979959173 CA30816374	232	G>R		No	ClinGen TOPMed
CA342625371 rs1335400757	233	T>A		No	ClinGen TOPMed
rs1315139334 CA342625424	235	Y>*		No	ClinGen gnomAD
rs762200945 CA1128038	236	W>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA342625428 rs1218082450	236	W>R		No	ClinGen gnomAD
CA342625468 rs1570853922	238	E>K		No	ClinGen Ensembl
rs1558269611 CA342625573	242	P>L		No	ClinGen Ensembl
CA1128039 rs765402135	244	S>N		No	ClinGen ExAC gnomAD
rs750711058 CA1128040	244	S>R		No	ClinGen ExAC gnomAD
rs1157867087 CA342625657	247	N>D		No	ClinGen gnomAD
CA342625675 rs751576352	247	N>K		No	ClinGen ExAC gnomAD
rs756047511 CA1128044	249	L>P		No	ClinGen ExAC gnomAD
CA1128045 rs777644148	251	R>W		No	ClinGen ExAC TOPMed gnomAD
CA342625832 rs1437726834	254	V>A		No	ClinGen TOPMed
CA1128046 rs749058130	255	L>P		No	ClinGen ExAC gnomAD
rs770381848 CA30816443	256	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs1357697076 COSM896579 CA342625858	256	R>Q	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA342626016 rs1287231705	260	W>C		No	ClinGen TOPMed
CA1128048 rs376365867	262	F>L		No	ClinGen ESP ExAC gnomAD
CA1128049 rs745600555	263	G>R		No	ClinGen ExAC gnomAD
CA342626120 rs1570854048	264	L>Q		No	ClinGen Ensembl
CA342626154 rs1285090752	266	I>V		No	ClinGen gnomAD
CA1128066 rs750128506	270	P>S		No	ClinGen ExAC gnomAD
rs373054368 CA1128068	271	D>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA30816740 rs965385586	274	L>P		No	ClinGen Ensembl
rs976804457 CA30816741	278	S>G		No	ClinGen TOPMed
CA342626734 rs1413720155	282	K>N		No	ClinGen TOPMed
CA1128070 rs768333447	283	F>L		No	ClinGen ExAC gnomAD
rs780541207 CA1128071	284	K>R		No	ClinGen ExAC gnomAD
rs1394854313 CA342626852	286	T>M		No	ClinGen gnomAD
rs1174075657 CA342626883	287	S>N		No	ClinGen TOPMed
CA30816753 rs1022350460	290	R>C		No	ClinGen TOPMed gnomAD
rs763261230 CA1128075	290	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1331897327 CA342627023	293	N>H		No	ClinGen gnomAD
CA342627157 rs1570854579	296	V>G		No	ClinGen Ensembl
rs1266005942 CA342627147	296	V>L		No	ClinGen TOPMed
rs1447270633 CA342597626	306	M>L		No	ClinGen TOPMed gnomAD
CA342597629 rs1157300660	306	M>R		No	ClinGen gnomAD
rs1447270633 COSM1498676 CA342597624	306	M>V	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA342597642 rs1483661922	307	G>R		No	ClinGen TOPMed
CA342597714 rs1257328745	312	I>M		No	ClinGen gnomAD
rs1474437930 CA342597725	314	N>S	Variant assessed as Somatic; 4.622e-05 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs916241854 CA30778612	316	I>V		No	ClinGen TOPMed
CA1128100 rs765244896	317	W>C		No	ClinGen ExAC
rs1358775930 CA342597752	318	E>A		No	ClinGen TOPMed
rs773334580 CA342597764	319	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs1167644459 CA342597758	319	H>Y		No	ClinGen gnomAD
rs41304564 CA1128102	320	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs766348077 CA1128103	321	V>A		No	ClinGen ExAC TOPMed gnomAD
rs1290284672 CA342597772	321	V>M		No	ClinGen TOPMed
CA30778712 rs112847210	323	M>I		No	ClinGen Ensembl
CA1128105 rs754660051	323	M>V		No	ClinGen ExAC gnomAD
CA1128106 rs767034036	324	R>C		No	ClinGen ExAC TOPMed gnomAD
COSM1184172 rs1353271203 CA342597792	324	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA30778727 rs769201480	326	Q>P		No	ClinGen gnomAD
CA342597806 rs769201480	326	Q>R		No	ClinGen gnomAD
CA342597810 rs1313295916	327	V>I		No	ClinGen gnomAD
CA342597819 rs752271242	328	Y>C		No	ClinGen ExAC gnomAD
CA342597820 rs752271242	328	Y>F		No	ClinGen ExAC gnomAD
CA1128107 rs752271242	328	Y>S		No	ClinGen ExAC gnomAD
rs41299633 CA30778755	330	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs41299633 CA1128108	330	P>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1413610533 CA342597835	331	W>*		No	ClinGen TOPMed
CA342597865 rs1182202490	335	V>M		No	ClinGen TOPMed
CA30778767 rs113329409	338	A>D		No	ClinGen TOPMed
rs113329409 CA30778768	338	A>V		No	ClinGen TOPMed
CA1128113 rs367932882	342	G>D		No	ClinGen ESP ExAC gnomAD
rs772371760 CA1128114	345	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs372156866 CA1128115	350	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA342597979 rs1373907594	352	I>L		No	ClinGen gnomAD
rs768661375 CA1128117	355	T>S		No	ClinGen ExAC gnomAD
CA1128119 rs763046055	356	V>I	Variant assessed as Somatic; 9.24e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs542943117 CA1128120	361	L>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1128122 rs759199818	364	S>G		No	ClinGen ExAC gnomAD
rs772607479 CA1128185	369	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA1128186 rs570818129	370	L>P		No	ClinGen 1000Genomes ExAC gnomAD
CA342599618 rs570818129	370	L>R		No	ClinGen 1000Genomes ExAC gnomAD
CA1128187 rs765779498	371	G>S		No	ClinGen ExAC TOPMed gnomAD
CA342599630 rs1218994076	372	H>D		No	ClinGen gnomAD
CA342599679 rs1164307927	376	I>V		No	ClinGen TOPMed
CA1128189 rs373367056	377	N>S		No	ClinGen ESP ExAC gnomAD
rs1553296689 CA342599756	381	K>*		No	ClinGen Ensembl
CA342599778 rs1453577339	382	M>I		No	ClinGen TOPMed
rs768063706 CA1128190	383	F>L		No	ClinGen ExAC TOPMed gnomAD
CA1128191 rs753046751	384	C>Y		No	ClinGen ExAC gnomAD
CA342599833 rs1176120712	385	M>I		No	ClinGen gnomAD
rs1478443610 CA342599823	385	M>K		No	ClinGen gnomAD
CA342599817 rs1184265111	385	M>L		No	ClinGen TOPMed
rs1441016672 CA342599871	388	R>L		No	ClinGen gnomAD
CA342599869 rs1405238017	388	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1050193940 CA30781711	389	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA342599883 rs1050193940	389	T>R		No	ClinGen TOPMed gnomAD
CA30781729 rs1011384190	390	P>R		No	ClinGen gnomAD
CA1128195 rs201858935	391	A>P		No	ClinGen 1000Genomes ExAC gnomAD
rs955883553 CA30781740	393	A>P		No	ClinGen TOPMed gnomAD
CA1128196 rs778835101	394	R>C		No	ClinGen ExAC TOPMed gnomAD
rs149548274 CA342599933	394	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs149548274 CA1128197	394	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs754903675 CA1128198	396	T>S		No	ClinGen ExAC gnomAD
CA342599994 rs35725806	399	N>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs769350295 CA1128201	400	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA1128202 rs772962965	406	E>D		No	ClinGen ExAC TOPMed gnomAD
rs1231135749 CA342600076	406	E>Q		No	ClinGen gnomAD
rs1002802549 CA30781816	409	F>S		No	ClinGen Ensembl
rs1171169430 CA342600176	412	K>R		No	ClinGen gnomAD
rs1427625409 CA342600191	413	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA1128205 rs773996452	414	G>V		No	ClinGen ExAC gnomAD
rs760127285 CA1128206	415	T>I		No	ClinGen ExAC gnomAD
CA342600237 rs1332179114	417	T>I		No	ClinGen gnomAD
rs1232443852 CA342600294	421	M>T		No	ClinGen gnomAD
CA342600397 rs1276843805	429	N>H		No	ClinGen gnomAD
rs980211634 CA30781837	431	H>N		No	ClinGen TOPMed
CA1128244 rs747617891	435	D>E		No	ClinGen ExAC gnomAD
rs1224285142 CA342601727	436	V>A		No	ClinGen TOPMed
rs201587979 CA1128247	439	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1172773797 CA342601995	442	H>L		No	ClinGen gnomAD
CA342602085 rs1375665493	444	A>T		No	ClinGen TOPMed gnomAD
rs1310020935 CA342602095	444	A>V		No	ClinGen TOPMed
rs770030282 CA1128248	445	E>A		No	ClinGen ExAC TOPMed gnomAD
rs1395712924 CA342602237	448	E>Q		No	ClinGen gnomAD
CA1128268 rs773566951	452	P>T		No	ClinGen ExAC gnomAD
CA342602719 rs1558273662	453	V>F		No	ClinGen Ensembl
rs181629150 CA1128269	454	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA342602863 rs1445373663	455	F>C		No	ClinGen TOPMed
rs771087209 CA1128270	455	F>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA1128271 rs774513161	458	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1220958843 CA342603158	462	D>V		No	ClinGen gnomAD
CA342603249 rs113465986	464	K>N		No	ClinGen TOPMed
CA1128273 CA1128272 rs370361449	465	F>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA342603331 rs1258382196	466	L>S		No	ClinGen TOPMed
CA342603435 rs1191541072	468	W>*		No	ClinGen gnomAD
rs776482782 CA1128274	468	W>R		No	ClinGen ExAC gnomAD
rs1570866828 CA342603492	469	D>A		No	ClinGen Ensembl
rs1262129905 CA342603569	471	S>G		No	ClinGen gnomAD
CA1128275 rs374968442	475	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA1128276 rs765190434	477	K>R		No	ClinGen ExAC gnomAD
CA1128278 rs368325333	479	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA342603956 rs1351257327	480	D>A		No	ClinGen gnomAD
CA342603938 rs1162134040	480	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA342603952 rs1351257327	480	D>V		No	ClinGen gnomAD
CA342603947 rs1162134040	480	D>Y		No	ClinGen TOPMed gnomAD
CA1128279 rs748666571	481	P>L		No	ClinGen ExAC TOPMed gnomAD
rs982603302 CA30783315	481	P>S		No	ClinGen TOPMed
CA1128280 rs751108404	482	H>P		No	ClinGen ExAC gnomAD
rs754483178 CA1128281	483	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA1128283 rs142928054	488	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs756550470 CA1128284	488	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA1128285 rs778127105	490	L>I		No	ClinGen ExAC gnomAD
rs749608078 CA1128286	492	L>V		No	ClinGen ExAC gnomAD
CA30783360 rs867789468	497	M>T		No	ClinGen Ensembl
rs149862972 CA1128289	503	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs149862972 CA1128290	503	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs748766234 CA30783646	505	E>Q		No	ClinGen Ensembl
rs1284286939 CA342605155	507	Y>C		No	ClinGen TOPMed
rs1399750487 CA342605182	508	Y>C		No	ClinGen TOPMed
rs1558273840 CA342605276	510	A>S		No	ClinGen Ensembl
rs61808687 CA30783668	511	Q>H		No	ClinGen ExAC gnomAD
rs1217292100 CA342605367	512	S>F		No	ClinGen gnomAD
CA342605573 rs1449683282	517	A>T		No	ClinGen Ensembl
rs1312742704 CA342605587	517	A>V		No	ClinGen gnomAD
rs1235765092 CA342605622	519	V>L		No	ClinGen gnomAD
rs1401502319 CA342605680	520	T>S		No	ClinGen TOPMed
rs763575003 CA1128321	521	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1245792519 CA342605718	521	A>V		No	ClinGen gnomAD
CA1128322 rs754400736	522	A>T		No	ClinGen ExAC gnomAD
CA342605831 rs757779634	524	N>I		No	ClinGen ExAC gnomAD
CA1128323 rs757779634	524	N>S		No	ClinGen ExAC gnomAD
CA1128325 rs750741796	530	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA1128326 rs758569511	530	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs758569511 CA1128327	530	R>L		No	ClinGen ExAC gnomAD
CA30783778 rs144176011	531	S>C		No	ClinGen ESP gnomAD
CA342606137 rs144176011	531	S>F		No	ClinGen ESP gnomAD
rs747200609 CA1128328	532	R>C		No	ClinGen ExAC gnomAD
CA342606161 rs1276467925	532	R>H		No	ClinGen TOPMed gnomAD
rs377431944 CA30783792	533	T>A		No	ClinGen gnomAD
rs755391988 CA30783794	535	K>R		No	ClinGen TOPMed gnomAD
CA1128330 rs781405177	536	T>A		No	ClinGen ExAC TOPMed
CA342606321 rs1288657616	537	I>V		No	ClinGen gnomAD
CA342606348 rs1570867426	538	T>P		No	ClinGen Ensembl
CA1128334 rs745639324	539	V>A		No	ClinGen ExAC TOPMed gnomAD
CA1128333 rs367849376	539	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs1480972424 CA342606409	540	H>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA30783824 rs563722962	540	H>Y		No	ClinGen 1000Genomes
rs771733938 CA1128335	544	T>I		No	ClinGen ExAC gnomAD
CA342606531 rs1264280372	546	I>V		No	ClinGen TOPMed
rs201235004 CA30783850	556	F>L		No	ClinGen Ensembl
rs148837394 CA1128339	557	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1128341 rs765723967	559	I>M		No	ClinGen ExAC gnomAD
rs750783122 CA342606909	562	R>L		No	ClinGen ExAC gnomAD
rs750783122 CA1128342	562	R>Q		No	ClinGen ExAC gnomAD
rs371680247 CA30783856	562	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA TOPMed
CA1128344 rs766826477	563	M>I		No	ClinGen ExAC TOPMed gnomAD
rs751883997 CA1128345	564	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA342606965 rs751883997	564	S>W		No	ClinGen ExAC TOPMed gnomAD
CA1128361 rs753034	567	V>A		No	ClinGen ExAC gnomAD
CA30783947 rs753034	567	V>G		No	ClinGen ExAC gnomAD
rs34102061 CA30783872	567	V>M		No	ClinGen Ensembl
rs755275968 CA1128363	568	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA1128362 rs751918565	568	R>W		No	ClinGen ExAC gnomAD
rs1402235773 CA342609404	569	N>D		No	ClinGen TOPMed
rs1275495685 CA342609434	569	N>S		No	ClinGen gnomAD
CA1128365 rs752835020	573	K>R		No	ClinGen ExAC gnomAD
rs756267380 CA1128366	575	R>*		No	ClinGen ExAC gnomAD
rs756267380 CA342609641	575	R>G		No	ClinGen ExAC gnomAD
CA30783979 rs531655855	575	R>L		No	ClinGen TOPMed gnomAD
rs531655855 CA30783978	575	R>Q		No	ClinGen TOPMed gnomAD
CA1128368 rs750443105	577	Y>C		No	ClinGen ExAC gnomAD
CA342609746 rs1440746770	579	K>T		No	ClinGen gnomAD
rs144911507 CA342609808	581	A>S		No	ClinGen ESP ExAC gnomAD
CA1128370 rs144911507	581	A>T		No	ClinGen ESP ExAC gnomAD
CA1128371 rs765968615	584	I>V		No	ClinGen ExAC gnomAD
CA30784038 rs566349693	585	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1570867798 CA342610014	588	R>T		No	ClinGen Ensembl
rs747730826 CA1128374	591	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs772590940 CA1128376	597	L>P		No	ClinGen ExAC gnomAD
CA1128378 rs144282066	598	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs373032462 CA1128381	600	T>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs753021530 CA1128382	601	M>V		No	ClinGen ExAC gnomAD
rs1240266213 CA342610492	602	D>N		No	ClinGen TOPMed gnomAD
rs1255886266 CA342610589	604	L>F		No	ClinGen gnomAD
CA1128397 rs144202683	606	E>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs149913339 CA1128398	607	Y>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA342610811 rs141457358	608	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1128400 rs141457358	608	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs912214051 CA30784312	609	G>E		No	ClinGen TOPMed gnomAD
rs1388974317 CA342611042	619	Y>C		No	ClinGen gnomAD
rs149090132 CA1128401	620	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA30784320 rs368045724	622	L>V		No	ClinGen ESP gnomAD
rs760966152 CA1128402	624	E>K		No	ClinGen ExAC gnomAD
CA342611168 rs1324497298	625	E>*		No	ClinGen gnomAD
rs1340494137 CA342611209	627	Y>H		No	ClinGen gnomAD
rs753948391 CA1128404	628	E>K		No	ClinGen ExAC gnomAD
rs1570868378 CA342611300	630	W>G		No	ClinGen Ensembl
CA342611355 rs1244255647	632	E>G		No	ClinGen gnomAD
rs1263937344 CA342611368	633	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA1128406 rs765278610	633	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA1128407 rs140373193	634	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs754901648 CA1128408	634	R>H		No	ClinGen ExAC TOPMed gnomAD
CA1128409 rs375676100	635	L>F		No	ClinGen ESP ExAC gnomAD
CA342611480 rs1162199295	638	S>R		No	ClinGen gnomAD
rs777334098 CA1128412	639	L>V		No	ClinGen ExAC gnomAD
CA1128413 rs748931644	640	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA342611525 rs1360433731	641	Q>*		No	ClinGen gnomAD
rs370316975 CA30784451	642	D>G		No	ClinGen ESP TOPMed
CA1128416 rs373295550	644	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA1128415 rs569952974	644	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1128418 rs376417419	645	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA342611636 rs1395551025	645	E>K		No	ClinGen gnomAD
rs769031274 CA1128420	646	D>E		No	ClinGen ExAC gnomAD
rs536813523 CA1128419	646	D>N		No	ClinGen 1000Genomes ExAC gnomAD
rs1284968299 CA342611731 CA342611726	647	R>S		No	ClinGen TOPMed gnomAD
rs776888021 CA1128421	649	A>V		No	ClinGen ExAC gnomAD
CA30784503 rs992293463	652	Y>C		No	ClinGen Ensembl
CA342612029 rs1570868512	655	V>G		No	ClinGen Ensembl
CA342612116 CA342612111 rs1217810857	659	M>L		No	ClinGen TOPMed gnomAD
CA342612127 rs1339267587	659	M>T		No	ClinGen TOPMed
CA342612113 rs1217810857	659	M>V		No	ClinGen TOPMed gnomAD
rs949587908 CA30784508	660	M>L		No	ClinGen TOPMed
rs776972025 CA1128438	665	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA1128441 rs773299052	667	I>V		No	ClinGen ExAC gnomAD
CA342612853 rs1468906046	675	V>A		No	ClinGen gnomAD
CA342612836 rs1192692268	675	V>L		No	ClinGen Ensembl
rs762985603 CA1128442	678	T>A		No	ClinGen ExAC gnomAD
rs775352084 CA1128444	679	I>T		No	ClinGen ExAC gnomAD
CA1128443 rs766463166	679	I>V		No	ClinGen ExAC TOPMed gnomAD
CA342612994 rs1174910262	681	L>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA342613075 rs1470357014	684	L>V		No	ClinGen gnomAD
rs1330904981 CA342613142	685	A>V		No	ClinGen gnomAD
CA342613268 rs1279984042	690	W>R		No	ClinGen gnomAD
rs761581408 CA1128448	693	T>A		No	ClinGen ExAC gnomAD
CA342613358 rs1285153259	693	T>S		No	ClinGen gnomAD
CA1128450 rs371485044	694	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA342613510 rs1439250040	698	E>*		No	ClinGen gnomAD
CA342613692 rs761738575	699	T>K		No	ClinGen ExAC TOPMed gnomAD
rs761738575 CA1128466	699	T>M		No	ClinGen ExAC TOPMed gnomAD
rs750100121 CA1128468	703	I>V		No	ClinGen ExAC gnomAD
CA342613821 rs751021127	704	G>C		No	ClinGen ExAC TOPMed gnomAD
CA1128471 rs751021127	704	G>S		No	ClinGen ExAC TOPMed gnomAD
CA1128473 rs755495547	705	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA1128472 rs755495547	705	Y>F		No	ClinGen ExAC TOPMed gnomAD
rs199582939 CA30784933	706	S>F		No	ClinGen 1000Genomes TOPMed
rs1165312612 CA342613935	708	K>N		No	ClinGen gnomAD
rs1422484660 CA342613930	708	K>R		No	ClinGen TOPMed gnomAD
rs1365973615 CA342613946	709	M>L		No	ClinGen TOPMed gnomAD
rs1365973615 CA342613942	709	M>V		No	ClinGen TOPMed gnomAD
CA342613982 rs1570869110	711	T>A		No	ClinGen Ensembl
CA1128475 rs367934414	711	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA1128477 rs371634795	714	M>L		No	ClinGen ESP ExAC gnomAD
rs551370297 CA1128478	716	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1570869167 CA342614111	717	V>G		No	ClinGen Ensembl
rs956753342 CA30784949	719	I>V		No	ClinGen Ensembl
rs778882073 CA1128479	720	V>L		No	ClinGen ExAC gnomAD
rs745921740 CA1128480	721	T>A		No	ClinGen ExAC TOPMed gnomAD
rs776756007 CA1128482	723	H>R		No	ClinGen ExAC TOPMed gnomAD
rs772249668 CA1128481	723	H>Y		No	ClinGen ExAC gnomAD
CA342614166 rs1448791454	725	V>L		No	ClinGen gnomAD
rs1192395700 CA342614172	726	L>V		No	ClinGen TOPMed
CA342614185 rs1570869246	728	V>M		No	ClinGen Ensembl
CA1128484 rs769777681	729	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA1128483 rs375163330	729	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA30785052 rs779322999	730	E>G		No	ClinGen Ensembl
CA1128485 rs772993599	730	E>K		No	ClinGen ExAC gnomAD
rs762522707 CA1128486	731	E>K		No	ClinGen ExAC gnomAD
CA1128513 rs765505006	734	K>E		No	ClinGen ExAC gnomAD
rs1312848888 CA342614395	735	A>V		No	ClinGen TOPMed
rs375666727 CA342614400	736	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA1128516 rs780293703	736	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs375666727 CA1128515	736	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA30785278 rs1030945347	738	K>T		No	ClinGen Ensembl
rs1558274730 CA342614452	739	M>K		No	ClinGen Ensembl
CA30785283 rs574751946	739	M>V		No	ClinGen Ensembl
CA1128517 rs145714388	740	M>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1407978747 CA342614469	740	M>V		No	ClinGen TOPMed
rs1427176772 CA342614495	741	D>N		No	ClinGen gnomAD
rs756034045 CA1128518	741	D>V		No	ClinGen ExAC gnomAD
rs1161736568 CA342614567	743	S>F		No	ClinGen TOPMed gnomAD
rs1168071231 CA342614555	743	S>T		No	ClinGen TOPMed
CA1128520 rs749157003	744	R>C		No	ClinGen ExAC TOPMed gnomAD
CA1128521 rs118078368	744	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA342614587 rs118078368	744	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1128522 rs778615913	745	S>F		No	ClinGen ExAC gnomAD
rs1436429186 CA342614628	746	V>A		No	ClinGen TOPMed
rs376124574 CA1128524	746	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs376124574 CA1128525	746	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs760220207 CA1128526	748	N>S		No	ClinGen ExAC gnomAD
rs777251369 CA1128528	749	G>S		No	ClinGen ExAC TOPMed gnomAD
CA1128529 rs142492689	751	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA1128530 rs765637998	752	Y>H		No	ClinGen ExAC gnomAD
rs765637998 CA342614698	752	Y>N		No	ClinGen ExAC gnomAD
CA342614732 rs1253323418	754	D>H		No	ClinGen gnomAD
rs1248220075 CA342614763	755	K>N		No	ClinGen TOPMed
CA342614801 rs1221524130	758	S>F		No	ClinGen gnomAD
CA342614814 rs1266681885	759	S>F		No	ClinGen gnomAD
rs143385680 CA1128534	760	K>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs143385680 CA1128533	760	K>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1016384256 CA30785449	764	V>A		No	ClinGen TOPMed
rs1200083098 CA342614898	765	L>V		No	ClinGen gnomAD
CA1128535 rs755131540	766	E>K		No	ClinGen ExAC gnomAD
rs753821662 CA1128537	768	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs373798790 CA30785482	770	G>E		No	ClinGen ESP TOPMed
rs370239000 CA30785478	770	G>W		No	ClinGen ESP
rs757088821 CA342615025	772	Y>*		No	ClinGen ExAC TOPMed gnomAD
rs146738009 CA1128540	773	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs146738009 CA1128539	773	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs771823385 CA1128541	773	A>V		No	ClinGen ExAC gnomAD
CA342615126 rs746629996	780	S>R		No	ClinGen ExAC gnomAD
rs562875701 CA342615209 CA30785767	783	H>Q		No	ClinGen 1000Genomes TOPMed gnomAD
CA1128563 rs780772656	784	A>T		No	ClinGen ExAC TOPMed gnomAD
rs747570287 CA1128564	785	L>V		No	ClinGen ExAC gnomAD
CA1128565 rs769396112	786	E>G		No	ClinGen ExAC TOPMed gnomAD
rs1417794842 CA342615282	789	M>T		No	ClinGen gnomAD
CA30785804 rs1013930367	789	M>V		No	ClinGen TOPMed
CA1128566 rs773903090	792	E>K		No	ClinGen ExAC TOPMed gnomAD
CA1128568 rs771428346	795	E>V		No	ClinGen ExAC TOPMed gnomAD
CA1128569 rs200305485	796	T>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA342615400 rs530459501	797	A>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1128571 rs530459501	797	A>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs530459501 CA1128570	797	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA1128573 rs760719979	798	C>Y		No	ClinGen ExAC gnomAD
rs1002226705 CA30785858	800	C>S		No	ClinGen gnomAD
rs1307644549 CA342615624	807	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1225353833 CA342615616	807	R>W		No	ClinGen gnomAD
CA30785865 rs560873904	808	V>L		No	ClinGen 1000Genomes TOPMed gnomAD
CA342615673 rs1221198239	810	P>T		No	ClinGen gnomAD
rs963809491 CA30785867	811	L>S		No	ClinGen TOPMed gnomAD
rs764149240 CA1128574	812	Q>R		No	ClinGen ExAC gnomAD
rs1432257564 CA342615792	817	V>G		No	ClinGen TOPMed
rs1203396288 CA342615872	820	V>I		No	ClinGen gnomAD
CA1128576 rs758262674	822	K>N		No	ClinGen ExAC gnomAD
rs1232602003 CA342615906	822	K>Q		No	ClinGen gnomAD
CA1128577 rs766171439	823	Y>S		No	ClinGen ExAC gnomAD
CA30785884 rs944763835	825	K>E		No	ClinGen TOPMed gnomAD
CA1128580 rs751259917	826	A>T		No	ClinGen ExAC gnomAD
rs780747735 CA1128582	828	T>M		No	ClinGen ExAC TOPMed gnomAD
CA30785932 rs761877647	831	I>V		No	ClinGen TOPMed gnomAD
CA342616381 rs1374598607	832	G>V		No	ClinGen gnomAD
rs755741967 CA1128584	834	G>E		No	ClinGen ExAC gnomAD
rs1308529203 CA342616586	838	V>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA342616573 rs1412643473	838	V>I		No	ClinGen gnomAD
CA1128604 rs777449123	843	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs777415181 CA1128586	843	T>S		No	ClinGen ExAC gnomAD
rs1240562816 CA342616987	845	H>P		No	ClinGen gnomAD
rs753359157 CA1128605	845	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs1484991458 CA342617096	847	G>V		No	ClinGen gnomAD
CA30786167 rs906224808	849	G>E		No	ClinGen TOPMed
rs371525699 CA30786173	851	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs772387779 CA1128609	853	Q>L		No	ClinGen ExAC TOPMed gnomAD
CA30786205 rs1014713983	855	G>R		No	ClinGen TOPMed
CA30786209 rs949301752	861	A>T		No	ClinGen Ensembl
CA1128613 rs768814051	863	D>H		No	ClinGen ExAC TOPMed gnomAD
rs768814051 CA1128612	863	D>N		No	ClinGen ExAC TOPMed gnomAD
rs1396979781 CA342617625	864	Y>H		No	ClinGen TOPMed
CA1128614 rs761917064	867	S>F		No	ClinGen ExAC gnomAD
CA342617932 rs1315532422	872	L>R		No	ClinGen gnomAD
rs769894728 CA1128615	874	R>H		No	ClinGen ExAC gnomAD
CA30786244 rs905191301	879	H>N		No	ClinGen Ensembl
CA342618147 rs1313952257	881	R>C		No	ClinGen gnomAD
CA342618150 rs1382469790	881	R>H		No	ClinGen gnomAD
CA30786268 rs1002133364	882	W>L		No	ClinGen Ensembl
CA342618288 rs1286454355	884	Y>C		No	ClinGen gnomAD
rs759512071 CA1128617	885	L>Q		No	ClinGen ExAC gnomAD
rs752493222 CA1128619	886	R>*		No	ClinGen ExAC TOPMed gnomAD
rs1163062974 CA342618393	887	M>V		No	ClinGen TOPMed
CA30786273 rs1027780707	889	K>R		No	ClinGen TOPMed gnomAD
rs1209548147 CA342618627	893	Y>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA1128621 rs763880252	894	F>V		No	ClinGen ExAC
rs756888361 CA1128623	900	A>T		No	ClinGen ExAC gnomAD
rs1469516582 CA342620246	903	M>V		No	ClinGen gnomAD
CA342620354 rs758880354	906	F>L	Variant assessed as Somatic; 4.635e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA342620410 rs1248105852	908	F>S		No	ClinGen TOPMed
rs780301945 CA1128627	912	C>S		No	ClinGen ExAC gnomAD
CA1128628 rs747330016	915	S>L		No	ClinGen ExAC
rs1570871184 CA342620588	917	Q>P		No	ClinGen Ensembl
CA1128648 rs149142094	919	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA342620778 rs1570871500	926	T>P		No	ClinGen Ensembl
rs749426753 CA1128651 CA342620884	931	V>L		No	ClinGen ExAC TOPMed gnomAD
rs770893601 CA1128652	933	T>P		No	ClinGen ExAC gnomAD
CA342620932 rs1193917651	934	S>F		No	ClinGen gnomAD
rs775626684 CA1128653	934	S>P		No	ClinGen ExAC gnomAD
CA1128654 rs746942875	936	P>T		No	ClinGen ExAC gnomAD
CA1128655 rs768578453	937	V>I		No	ClinGen ExAC gnomAD
CA342620987 rs1198617245	939	A>G		No	ClinGen gnomAD
rs113852126 CA30787859 CA30787864	940	M>L		No	ClinGen Ensembl
CA342621002 rs1558275417	940	M>T		No	ClinGen Ensembl
rs1384363448 CA342621059	946	D>H		No	ClinGen gnomAD
CA30788140 rs547731926	947	V>I		No	ClinGen Ensembl
rs201214703 CA1128678	948	P>H		No	ClinGen 1000Genomes ExAC gnomAD
CA342621071 rs1300133222	948	P>S		No	ClinGen gnomAD
rs1312811280 CA342621080	949	E>A		No	ClinGen gnomAD
CA342621076 rs1248618439	949	E>K		No	ClinGen gnomAD
rs1323496011 CA342621084	950	Q>K		No	ClinGen gnomAD
CA1128680 rs760056863	950	Q>R		No	ClinGen ExAC gnomAD
CA342621091 rs768053191	951	R>G		No	ClinGen ExAC TOPMed gnomAD
rs753124943 CA1128682	951	R>Q		No	ClinGen ExAC gnomAD
CA1128681 rs768053191	951	R>W	Variant assessed as Somatic; 4.623e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1210177596 CA342621100	952	S>R		No	ClinGen gnomAD
CA342621110 rs1248313118	953	M>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA342621125 rs199964824	955	Y>*		No	ClinGen TOPMed
rs1465621641 CA342621120	955	Y>H		No	ClinGen gnomAD
CA342621151 rs1412084128	959	Y>F		No	ClinGen gnomAD
CA342621162 rs1356823790	961	P>T		No	ClinGen TOPMed
rs764363341 CA1128686	963	Q>*		No	ClinGen ExAC gnomAD
rs139958998 CA1128687	964	L>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA1128688 rs757500415	966	L>F		No	ClinGen ExAC gnomAD
CA342621225 rs1570872030	967	L>R		No	ClinGen Ensembl
CA30788273 rs78278267	969	N>S		No	ClinGen gnomAD
rs758519185 CA1128691	971	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA342621277 rs750487371	971	R>W		No	ClinGen ExAC TOPMed gnomAD
rs769697140 CA1128694	976	C>R		No	ClinGen ExAC gnomAD
rs937927386 CA30788317	978	A>T		No	ClinGen gnomAD
rs143850958 CA1128696	979	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA30788344 rs538292578	980	G>D		No	ClinGen Ensembl
CA342621459 rs1036717293	982	Y>C		No	ClinGen TOPMed
rs1036717293 CA30788352	982	Y>F		No	ClinGen TOPMed
CA1128698 rs773963533	982	Y>H		No	ClinGen ExAC TOPMed gnomAD
CA342621476 rs1558275710	983	T>I		No	ClinGen Ensembl
rs1351221099 CA342621492	985	V>M		No	ClinGen gnomAD
rs1182915931 CA342621509	986	L>P	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA342621534 rs1250496794	987	M>T		No	ClinGen gnomAD
CA342621622 rs1471642319	991	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs771557433 CA1128700	992	Y>C		No	ClinGen ExAC gnomAD
rs1469442614 CA342621696	993	G>V		No	ClinGen gnomAD
CA342621710 rs1324617039	994	V>M		No	ClinGen gnomAD
rs1490213401 CA342621814	997	D>N		No	ClinGen TOPMed
rs1448549009 CA342621910	998	A>G		No	ClinGen gnomAD
rs1266811515 CA342621892	998	A>T		No	ClinGen TOPMed
CA342621927 rs1297526244	999	T>A		No	ClinGen gnomAD
CA342621941 rs1371181098	999	T>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs754105181 CA1128704	1000	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs764536775 CA1128703	1000	R>W		No	ClinGen ExAC TOPMed gnomAD
CA342622071 rs1280344828	1002	D>G		No	ClinGen gnomAD
rs765593553 CA1128706	1002	D>H		No	ClinGen ExAC gnomAD
rs750649008 CA1128707	1003	G>A		No	ClinGen ExAC gnomAD
rs758604303 CA1128708	1004	T>I		No	ClinGen ExAC gnomAD
rs779989566 CA1128709	1006	L>V		No	ClinGen ExAC gnomAD
rs1185005378 CA342622204	1007	A>T		No	ClinGen gnomAD
rs755946586 CA1128711	1012	F>S		No	ClinGen ExAC
rs777644850 CA1128712	1015	T>S		No	ClinGen ExAC gnomAD
rs1570872204 CA342622561	1016	V>M		No	ClinGen Ensembl
rs1414824042 CA342622594	1017	A>T		No	ClinGen gnomAD
rs1308591387 CA342622736	1022	I>M		No	ClinGen gnomAD
CA342622732 rs778597357	1022	I>N		No	ClinGen ExAC TOPMed gnomAD
CA1128715 rs778597357	1022	I>T		No	ClinGen ExAC TOPMed gnomAD
CA342622723 rs1570872221	1022	I>V		No	ClinGen Ensembl
CA342622743 rs1344285504	1023	V>L		No	ClinGen TOPMed gnomAD
CA342622826 CA30788487 rs376001580	1026	V>L		No	ClinGen TOPMed gnomAD
CA30788485 rs376001580	1026	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs778613739 CA1128735	1028	I>M		No	ClinGen ExAC gnomAD
rs775307615 CA1128736	1031	D>N		No	ClinGen ExAC TOPMed gnomAD
rs757942955 CA1128737	1034	Y>*		No	ClinGen ExAC gnomAD
CA1128738 rs779647764	1036	T>A		No	ClinGen ExAC TOPMed gnomAD
rs1451312178 CA342623261	1036	T>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA342623309 rs1182832831	1038	I>L		No	ClinGen TOPMed
CA342623314 rs1182832831	1038	I>V		No	ClinGen TOPMed
CA342623365 rs768186918	1040	H>D		No	ClinGen ExAC gnomAD
rs768186918 CA1128740	1040	H>Y		No	ClinGen ExAC gnomAD
rs1384381550 CA342623574	1044	W>L		No	ClinGen gnomAD
rs1461633686 CA342623896	1053	I>V		No	ClinGen TOPMed gnomAD
CA1128744 rs773651706	1055	F>C		No	ClinGen ExAC gnomAD
CA1128745 rs773651706	1055	F>S		No	ClinGen ExAC gnomAD
rs371660798 CA30788668	1060	N>S		No	ClinGen ESP TOPMed gnomAD
CA1128746 rs766471732	1061	G>E		No	ClinGen ExAC gnomAD
CA1128751 rs187911863	1064	D>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1128752 rs187911863	1064	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs750182061 CA1128753	1068	N>S		No	ClinGen ExAC gnomAD
CA1128754 rs758184756	1069	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA30788758 rs866091584	1071	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA342624427 rs1357113952	1071	R>W		No	ClinGen gnomAD
rs538074051 CA1128756	1073	V>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1304841699 CA342624471	1073	V>L		No	ClinGen TOPMed
rs1342599152 CA342625140	1076	A>S		No	ClinGen gnomAD
rs1271565227 CA342625166	1077	Q>H		No	ClinGen gnomAD
rs1322060232 CA342625160	1077	Q>R		No	ClinGen TOPMed
CA342625248 rs1202037926	1082	Q>H		No	ClinGen gnomAD
CA1128774 rs751173973	1083	P>L		No	ClinGen ExAC TOPMed gnomAD
rs752212863 CA1128777	1084	T>M		No	ClinGen ExAC TOPMed gnomAD
CA342625287 rs1209394978	1085	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1375634493 CA342625378	1089	I>T		No	ClinGen TOPMed gnomAD
rs375664161 CA1128782	1091	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs772244439 CA1128784	1093	T>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs768713536 CA1128787	1094	V>A		No	ClinGen ExAC TOPMed gnomAD
CA1128786 rs760796944	1094	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1570874839 CA342625487	1095	V>A		No	ClinGen Ensembl
rs368404389 CA1128789	1095	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1235716218 CA342625516	1097	I>V		No	ClinGen gnomAD
CA1128790 rs766098286	1098	M>T		No	ClinGen ExAC TOPMed gnomAD
CA342625542 rs1273522797	1098	M>V		No	ClinGen TOPMed
CA1128791 rs370515010	1099	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs144016958 CA1128793	1100	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA30790270 rs372800303	1101	V>A		No	ClinGen ESP gnomAD
rs752374534 CA1128794	1102	A>V		No	ClinGen ExAC gnomAD
CA1128795 rs755752350	1103	F>L		No	ClinGen ExAC gnomAD
CA342625645 rs1570874907	1104	R>*		No	ClinGen Ensembl
CA1128796 rs777352286	1104	R>Q		No	ClinGen ExAC TOPMed
rs1434480171 CA342625727	1108	L>F		No	ClinGen gnomAD
rs1422991318 CA342625754	1109	N>T		No	ClinGen TOPMed
rs1199153228 CA342625784	1110	L>R		No	ClinGen gnomAD
CA1128797 rs754315969	1112	P>L		No	ClinGen ExAC gnomAD
rs779179086 CA1128799	1115	S>Y		No	ClinGen ExAC
CA342625933 rs143318100	1116	D>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs143318100 CA1128801	1116	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA342625971 rs1389378866	1117	T>A		No	ClinGen TOPMed
CA1128802 COSM4140849 rs377129850	1117	T>M	kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA1128818 rs750885538	1119	R>C		No	ClinGen ExAC TOPMed gnomAD
rs1326577910 CA342626189	1121	T>A		No	ClinGen gnomAD
rs1181770511 CA342626250	1124	V>A		No	ClinGen TOPMed gnomAD
rs780327470 CA1128820	1124	V>L		No	ClinGen ExAC TOPMed gnomAD
CA1128821 rs780327470	1124	V>M		No	ClinGen ExAC TOPMed gnomAD
CA342626284 rs1259102065	1127	K>M		No	ClinGen TOPMed
rs1254761535 CA342626288	1127	K>N		No	ClinGen gnomAD
rs1259102065 CA342626286	1127	K>R		No	ClinGen TOPMed
rs1057054589 CA30790606	1128	Q>L		No	ClinGen Ensembl
CA30790607 rs894509024	1129	K>E		No	ClinGen TOPMed gnomAD
CA1128822 rs755140234	1132	H>Y		No	ClinGen ExAC gnomAD
CA342626418 rs781160220	1133	R>C		No	ClinGen ExAC TOPMed gnomAD
rs781160220 CA1128823	1133	R>G		No	ClinGen ExAC TOPMed gnomAD
rs748296940 CA1128824	1133	R>H		No	ClinGen ExAC TOPMed gnomAD
CA1128825 rs746907777	1135	M>L		No	ClinGen ExAC gnomAD
CA342626486 rs1300994949	1135	M>T		No	ClinGen TOPMed gnomAD
CA342626464 rs746907777	1135	M>V		No	ClinGen ExAC gnomAD
CA342626496 rs554072227	1136	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1128827 rs554072227	1136	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs774403333 CA1128826	1136	R>W		No	ClinGen ExAC gnomAD
rs139827569 CA1128828	1137	R>Q		No	ClinGen ESP ExAC gnomAD
CA342626505 rs1290120526	1137	R>W		No	ClinGen TOPMed
CA1128829 rs775378950	1138	V>I		No	ClinGen ExAC gnomAD
rs1453779450 CA342626588	1139	G>V		No	ClinGen TOPMed
CA1128830 rs41308375	1140	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs374400156 CA1128831	1140	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs374400156 CA342626598	1140	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1453081878 CA342626617	1141	T>S		No	ClinGen TOPMed
rs1558277091 CA342626677	1143	S>F		No	ClinGen Ensembl
rs201482461 CA1128833	1143	S>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs764653687 CA342626696	1144	R>G		No	ClinGen ExAC TOPMed gnomAD
rs1251116427 CA342626735	1144	R>P		No	ClinGen gnomAD
CA342626723 rs1251116427	1144	R>Q		No	ClinGen gnomAD
CA1128834 rs764653687	1144	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1471672535 CA342626764	1145	R>C		No	ClinGen TOPMed gnomAD
rs750929591 CA1128835	1145	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs755265171 CA1128839	1147	G>S		No	ClinGen ExAC gnomAD
CA1128840 rs781524491	1149	A>D		No	ClinGen ExAC gnomAD
rs1307385854 CA342626859	1150	F>L		No	ClinGen gnomAD
CA1128842 rs756283679	1151	S>F		No	ClinGen ExAC TOPMed gnomAD
CA1128843 rs777656802	1153	Q>H		No	ClinGen ExAC gnomAD
rs772096481 CA1128845	1157	G>R		No	ClinGen ExAC gnomAD
rs1217127836 CA342627169	1158	E>K		No	ClinGen gnomAD
rs1314339957 CA342627254	1160	I>M		No	ClinGen gnomAD
CA1128847 rs367630904	1161	M>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs376284353 CA1128846	1161	M>V		No	ClinGen ESP ExAC gnomAD
rs1558277136 CA342627322	1164	K>R		No	ClinGen Ensembl
rs768326214 CA1128848	1165	N>S		No	ClinGen ExAC gnomAD
CA342627361 rs1233539482	1166	M>T		No	ClinGen gnomAD
CA342627385 rs775485797	1167	R>L		No	ClinGen TOPMed gnomAD
CA30790704 rs775485797	1167	R>Q		No	ClinGen TOPMed gnomAD
rs1477795979 CA342627372	1167	R>W		No	ClinGen gnomAD
rs1167871401 CA342627443	1171	L>V		No	ClinGen gnomAD
CA30790727 rs763479110	1172	A>P		No	ClinGen ExAC TOPMed gnomAD
rs763479110 CA1128853	1172	A>S		No	ClinGen ExAC TOPMed gnomAD
CA1128854 rs763479110	1172	A>T		No	ClinGen ExAC TOPMed gnomAD
rs752038589 CA1128855	1172	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA342627474 rs1434648734	1174	S>P		No	ClinGen TOPMed gnomAD
rs148664360 CA1128857	1179	R>C		No	ClinGen 1000Genomes ESP TOPMed gnomAD
rs767768059 CA1128859	1179	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs756243141 CA1128861	1183	S>N		No	ClinGen ExAC gnomAD
rs1340589920 CA342627641	1184	W>*		No	ClinGen gnomAD
rs778032638 CA1128862	1184	W>G		No	ClinGen ExAC gnomAD
CA1128863 rs754013663	1186	E>D		No	ClinGen ExAC gnomAD
CA1128864 rs757393784	1187	S>N		No	ClinGen ExAC TOPMed gnomAD
CA342627661 rs1451153647	1187	S>R		No	ClinGen gnomAD
rs367887345 CA1128866	1189	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs372175672 CA1128867	1189	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1187624666 CA342627674	1190	R>K		No	ClinGen gnomAD
CA30790772 rs141562171	1193	S>G		No	ClinGen ESP
rs925796941 CA30790775	1193	S>R		No	ClinGen TOPMed
CA342627705 rs1245975932	1194	D>A		No	ClinGen TOPMed gnomAD
CA342627710 rs1255620290	1195	S>G		No	ClinGen TOPMed
CA1128868 rs114827397	1196	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs769288869 CA1128870	1197	S>I		No	ClinGen ExAC gnomAD
CA1128871 rs769288869	1197	S>N		No	ClinGen ExAC gnomAD
rs375500256 CA1128873	1199	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs774904798 CA1128874	1200	S>N		No	ClinGen ExAC gnomAD
CA342627745 rs774904798	1200	S>T		No	ClinGen ExAC gnomAD
rs1304254345 CA342627752	1201	G>D		No	ClinGen gnomAD
rs767947565 CA30790791	1202	G>C		No	ClinGen ExAC gnomAD
rs767947565 CA1128876	1202	G>S		No	ClinGen ExAC gnomAD
CA1128877 rs752965546	1202	G>V		No	ClinGen ExAC gnomAD
CA1128878 rs761071147	1203	A>T		No	ClinGen ExAC gnomAD
CA342627763 rs375717021	1204	D>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1128880 rs375717021	1204	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1128881 rs757481973	1205	K>E		No	ClinGen ExAC gnomAD
CA342627781 rs1208367924	1206	P>L		No	ClinGen gnomAD
CA1128882 rs765345573	1206	P>S		No	ClinGen ExAC TOPMed gnomAD
rs949795046 CA30790818	1208	K>N		No	ClinGen TOPMed
CA342627800 rs1245919110	1209	G>V		No	ClinGen gnomAD

No associated diseases with P98198

4 regional properties for P98198

Type	Name	Position	InterPro Accession
ptm	P-type ATPase, phosphorylation site	411 - 417	IPR018303
domain	P-type ATPase, C-terminal	859 - 1112	IPR032630
domain	P-type ATPase, N-terminal	36 - 101	IPR032631
domain	P-type ATPase, haloacid dehalogenase domain	392 - 882	IPR044492

Functions

		Description
EC Number	7.6.2.1	Linked to the hydrolysis of a nucleoside triphosphate
Subcellular Localization	Cell membrane ; Multi-pass membrane protein Endoplasmic reticulum membrane ; Multi-pass membrane protein	Efficient exit from the endoplasmic reticulum requires the presence of TMEM30A or TMEM30B
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

8 GO annotations of cellular component

Name	Definition
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
endoplasmic reticulum membrane	The lipid bilayer surrounding the endoplasmic reticulum.
Golgi apparatus	A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways.
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.
nucleolus	A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome.
phospholipid-translocating ATPase complex	A protein complex that functions as a phospholipid-translocating P-Type ATPase.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
trans-Golgi network	The network of interconnected tubular and cisternal structures located within the Golgi apparatus on the side distal to the endoplasmic reticulum, from which secretory vesicles emerge. The trans-Golgi network is important in the later stages of protein secretion where it is thought to play a key role in the sorting and targeting of secreted proteins to the correct destination.

6 GO annotations of molecular function

Name	Definition
ATP binding	Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
ATP hydrolysis activity	Catalysis of the reaction: ATP + H2O = ADP + H+ phosphate. ATP hydrolysis is used in some reactions as an energy source, for example to catalyze a reaction or drive transport against a concentration gradient.
ATPase-coupled intramembrane lipid transporter activity	Catalysis of the movement of lipids from one membrane leaflet to the other, driven by ATP hydrolysis. This includes flippases and floppases.
magnesium ion binding	Binding to a magnesium (Mg) ion.
phosphatidylcholine flippase activity	Catalysis of the movement of phosphatidylcholine from the exoplasmic to the cytosolic leaftlet of a membrane, using energy from the hydrolysis of ATP.
phosphatidylcholine floppase activity	Catalysis of the movement of phosphatidylcholine from the cytosolic to the exoplasmic leaftlet of a membrane, using energy from the hydrolysis of ATP.

3 GO annotations of biological process

Name	Definition
Golgi organization	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of the Golgi apparatus.
ion transmembrane transport	A process in which an ion is transported across a membrane.
phospholipid translocation	The movement of a phospholipid molecule from one leaflet of a membrane bilayer to the opposite leaflet.

11 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
O43520	ATP8B1	Phospholipid-transporting ATPase IC	Homo sapiens (Human)	EV
Q8TF62	ATP8B4	Probable phospholipid-transporting ATPase IM	Homo sapiens (Human)	PR
Q9Y2Q0	ATP8A1	Phospholipid-transporting ATPase IA	Homo sapiens (Human)	PR
O43861	ATP9B	Probable phospholipid-transporting ATPase IIB	Homo sapiens (Human)	PR
Q9P241	ATP10D	Phospholipid-transporting ATPase VD	Homo sapiens (Human)	PR
Q148W0	Atp8b1	Phospholipid-transporting ATPase IC	Mus musculus (Mouse)	SS
P70704	Atp8a1	Phospholipid-transporting ATPase IA	Mus musculus (Mouse)	PR
P98199	Atp8b2	Phospholipid-transporting ATPase ID	Mus musculus (Mouse)	PR
D4AA47	Atp8b1	Phospholipid-transporting ATPase IC	Rattus norvegicus (Rat)	SS
Q9U280	tat-1	Phospholipid-transporting ATPase tat-1	Caenorhabditis elegans	PR
Q5BL50	atp8b1	Phospholipid-transporting ATPase IC	Xenopus tropicalis (Western clawed frog) (Silurana tropicalis)	SS

10	20	30	40	50	60
MTVPKEMPEK	WARAQAPPSW	SRKKPSWGTE	EERRARANDR	EYNEKFQYAS	NCIKTSKYNI
70	80	90	100	110	120
LTFLPVNLFE	QFQEVANTYF	LFLLILQLIP	QISSLSWFTT	IVPLVLVLTI	TAVKDATDDY
130	140	150	160	170	180
FRHKSDNQVN	NRQSQVLING	ILQQEQWMNV	CVGDIIKLEN	NQFVAADLLL	LSSSEPHGLC
190	200	210	220	230	240
YIETAELDGE	TNMKVRQAIP	VTSELGDISK	LAKFDGEVIC	EPPNNKLDKF	SGTLYWKENK
250	260	270	280	290	300
FPLSNQNMLL	RGCVLRNTEW	CFGLVIFAGP	DTKLMQNSGR	TKFKRTSIDR	LMNTLVLWIF
310	320	330	340	350	360
GFLVCMGVIL	AIGNAIWEHE	VGMRFQVYLP	WDEAVDSAFF	SGFLSFWSYI	IILNTVVPIS
370	380	390	400	410	420
LYVSVEVIRL	GHSYFINWDK	KMFCMKKRTP	AEARTTTLNE	ELGQVEYIFS	DKTGTLTQNI
430	440	450	460	470	480
MVFNKCSING	HSYGDVFDVL	GHKAELGERP	EPVDFSFNPL	ADKKFLFWDP	SLLEAVKIGD
490	500	510	520	530	540
PHTHEFFRLL	SLCHTVMSEE	KNEGELYYKA	QSPDEGALVT	AARNFGFVFR	SRTPKTITVH
550	560	570	580	590	600
EMGTAITYQL	LAILDFNNIR	KRMSVIVRNP	EGKIRLYCKG	ADTILLDRLH	HSTQELLNTT
610	620	630	640	650	660
MDHLNEYAGE	GLRTLVLAYK	DLDEEYYEEW	AERRLQASLA	QDSREDRLAS	IYEEVENNMM
670	680	690	700	710	720
LLGATAIEDK	LQQGVPETIA	LLTLANIKIW	VLTGDKQETA	VNIGYSCKML	TDDMTEVFIV
730	740	750	760	770	780
TGHTVLEVRE	ELRKAREKMM	DSSRSVGNGF	TYQDKLSSSK	LTSVLEAVAG	EYALVINGHS
790	800	810	820	830	840
LAHALEADME	LEFLETACAC	KAVICCRVTP	LQKAQVVELV	KKYKKAVTLA	IGDGANDVSM
850	860	870	880	890	900
IKTAHIGVGI	SGQEGIQAVL	ASDYSFSQFK	FLQRLLLVHG	RWSYLRMCKF	LCYFFYKNFA
910	920	930	940	950	960
FTMVHFWFGF	FCGFSAQTVY	DQYFITLYNI	VYTSLPVLAM	GVFDQDVPEQ	RSMEYPKLYE
970	980	990	1000	1010	1020
PGQLNLLFNK	REFFICIAQG	IYTSVLMFFI	PYGVFADATR	DDGTQLADYQ	SFAVTVATSL
1030	1040	1050	1060	1070	1080
VIVVSVQIGL	DTGYWTAINH	FFIWGSLAVY	FAILFAMHSN	GLFDMFPNQF	RFVGNAQNTL
1090	1100	1110	1120	1130	1140
AQPTVWLTIV	LTTVVCIMPV	VAFRFLRLNL	KPDLSDTVRY	TQLVRKKQKA	QHRCMRRVGR
1150	1160	1170	1180	1190	1200
TGSRRSGYAF	SHQEGFGELI	MSGKNMRLSS	LALSSFTTRS	SSSWIESLRR	KKSDSASSPS

GGADKPLKG