AiPD: Autoinhibited Protein Database

O43520

Gene name	ATP8B1
Protein name	Phospholipid-transporting ATPase IC
Names	ATPase class I type 8B member 1, Familial intrahepatic cholestasis type 1, P4-ATPase flippase complex alpha subunit ATP8B1
Species	Homo sapiens (Human)
KEGG Pathway	hsa:5205
EC number	7.6.2.1: Linked to the hydrolysis of a nucleoside triphosphate
Protein Class	PROBABLE PHOSPHOLIPID-TRANSPORTING ATPASE (PTHR24092)

Descriptions

ATP8B1 is a catalytic component of a P4-ATPase flippase complex which flips lipids from the exoplasmic to the cytosolic leaflet, thus maintaining lipid asymmetry in eukaryotic cell membranes. Mutations in ATP8B1 are associated with severe diseases, for example, causing progressive familial intrahepatic cholestasis, a rare inherited disorder progressing toward liver failure. ATP8B1 forms a binary complex with CDC50A and displays a broad specificity to glycerophospholipids. ATP8B1 is autoinhibited by its N- and C-terminal tails, which form extensive interactions with the catalytic sites and flexible domain interfaces. ATP hydrolysis is unleashed by truncation of the C-terminus, but also requires phosphoinositides, most markedly phosphatidylinositol-3,4,5-phosphate (PI(3,4,5)P3), and removal of both N- and C-termini results in full activation.

Autoinhibitory domains (AIDs)

Target domain	65-325 (A-domain); 461-709 (N-domain); 710-928 (P-domain)
Relief mechanism	Ligand binding, Cleavage
Assay	Structural analysis, Deletion assay

AID

1-42 (N-terminal tail)

Target domain

65-325 (A-domain); 461-709 (N-domain); 710-928 (P-domain)

Relief mechanism

Ligand binding (Phosphoinositides binding to N-terminal tail), Cleavage (Truncation of the C- and N-termini)

Assay

Structural analysis, Deletion assay

Target domain	65-325 (A-domain); 461-709 (N-domain); 710-928 (P-domain)
Relief mechanism	Ligand binding
Assay	Structural analysis, Deletion assay

AID

1174-1251 (C-terminal tail)

Target domain

65-325 (A-domain); 461-709 (N-domain); 710-928 (P-domain)

Relief mechanism

Ligand binding (Phosphoinositides binding to N-terminal tail)

Assay

Structural analysis, Deletion assay

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

Dieudonné T et al. (2022) "Autoinhibition and regulation by phosphoinositides of ATP8B1, a human lipid flippase associated with intrahepatic cholestatic disorders", eLife, 11,

Cheng MT et al. (2022) "Structural insights into the activation of autoinhibited human lipid flippase ATP8B1 upon substrate binding", Proceedings of the National Academy of Sciences of the United States of America, 119, e2118656119

Autoinhibited structure

Activated structure

14 structures for O43520

Entry ID	Method	Resolution	Chain	Position	Source
7PY4	EM	310 A	A	1-1251	PDB
7VGH	EM	339 A	B	1-1251	PDB
7VGI	EM	336 A	B	1-1251	PDB
7VGJ	EM	398 A	A	1-1251	PDB
8OX4	EM	340 A	A	1-1185	PDB
8OX5	EM	290 A	A	1-1185	PDB
8OX6	EM	239 A	A	1-1185	PDB
8OX7	EM	256 A	A	1-1251	PDB
8OX8	EM	298 A	A	1-1251	PDB
8OX9	EM	272 A	A	1-1185	PDB
8OXA	EM	276 A	A	1-1185	PDB
8OXB	EM	299 A	A	1-1185	PDB
8OXC	EM	258 A	A	1-1185	PDB
AF-O43520-F1	Predicted				AlphaFoldDB

924 variants for O43520

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA8974962 rs202024093 RCV002531096 RCV000591106	3	T>K	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV001128444 rs960179853 CA300871513	5	R>K	Progressive familial intrahepatic cholestasis type 1 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
CA8974958 rs747649285 RCV002518062 RCV000261801	13	E>K	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV002480058 RCV000298145 CA8974948 RCV001128443 VAR_043044 RCV000950007 rs146599962	45	N>T	Progressive familial intrahepatic cholestasis type 1 ICP1 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA8974940 RCV001126393 rs768114205	55	R>Q	Progressive familial intrahepatic cholestasis type 1 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000990112 rs1599166106	58	F>missing	Progressive familial intrahepatic cholestasis type 1 [ClinVar]	Yes	ClinVar dbSNP
RCV000952767 RCV000661995 VAR_043045 RCV000661994 RCV000661996 RCV000177233 rs34719006 RCV000007694 CA118646	70	D>N	Cholestasis, intrahepatic, of pregnancy, 1 Benign recurrent intrahepatic cholestasis type 1 Cholestasis, intrahepatic, of pregnancy, 1 (icp1) Progressive familial intrahepatic cholestasis type 2 Progressive familial intrahepatic cholestasis type 1 BRIC1; compound heterozygote with Q-600; uncertain pathological significance; may be associated with ICP; reduces interaction with TMEM30A; has no effect on PC flippase activity [ClinVar, Ensembl, UniProt]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs148715351 CA8974918 RCV002282258 RCV000593626 RCV001126391	71	R>H	Variant assessed as Somatic; 0.0 impact. Progressive familial intrahepatic cholestasis type 1 [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
CA8974917 RCV000329537 rs145214384	74	H>Q	Progressive familial intrahepatic cholestasis type 1 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000879459 VAR_029271 RCV000245850 CA8974915 RCV000274458 rs3745079	78	H>Q	Progressive familial intrahepatic cholestasis type 1 [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA8974886 RCV001123729 rs756439394	104	A>T	Progressive familial intrahepatic cholestasis type 1 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000369105 CA10651963 rs753142591	114	E>Q	Progressive familial intrahepatic cholestasis type 1 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
VAR_043046	127	L>P	PFIC1; loss of PC flippase activity [UniProt]	Yes	UniProt
CA10641894 RCV000259280 rs886054014	165	A>G	Progressive familial intrahepatic cholestasis type 1 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001123728 rs780703474 CA8974823	167	H>Q	Progressive familial intrahepatic cholestasis type 1 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV000791070 CA8974818 RCV002521997 RCV000370144 RCV000382438 rs369011228	177	T>M	Alagille syndrome, ATP8B1 related Inborn genetic diseases Progressive familial intrahepatic cholestasis type 1 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001250188 rs1912903065	197	G>missing	Familial intrahepatic cholestasis type 1 [ClinVar]	Yes	ClinVar dbSNP
RCV000179906 VAR_043047 CA247228 RCV000724145 rs56355310 RCV001123726 RCV002485177	203	K>E	Progressive familial intrahepatic cholestasis type 1 ICP1; unknown pathological significance [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
VAR_071045 rs515726138 CA345470 RCV000114322	209	P>T	Progressive familial intrahepatic cholestasis type 1 PFIC1 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC dbSNP gnomAD
CA402544711 RCV001122640 rs1449849281	226	V>M	Progressive familial intrahepatic cholestasis type 1 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
CA8974711 RCV001122639 rs754073606	285	S>I	Progressive familial intrahepatic cholestasis type 1 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000007686 rs121909099 VAR_008809 CA254131	288	L>S	Progressive familial intrahepatic cholestasis type 1 PFIC1 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt TOPMed dbSNP
rs372749108 CA8974704 RCV001122638	304	D>N	Variant assessed as Somatic; 0.0 impact. Progressive familial intrahepatic cholestasis type 1 [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs150860808 CA8974703 RCV001122637 RCV000263650 RCV000766301 VAR_043048	305	F>I	Progressive familial intrahepatic cholestasis type 1 [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
VAR_043049 CA402541860 rs111033609	308	G>D	Variant assessed as Somatic; 0.0 impact. BRIC1 [NCI-TCGA, UniProt]	Yes	ClinGen UniProt NCI-TCGA TOPMed dbSNP gnomAD
RCV000007684 VAR_008810 CA340664 RCV000730982 rs111033609	308	G>V	Progressive familial intrahepatic cholestasis type 1 PFIC1; greatly reduced expression due to proteosomal degradation; abolishes interaction with TMEM30A [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt TOPMed dbSNP gnomAD
VAR_043050 rs140665115 CA8974665	344	I>F	BRIC1; loss of PC flippase activity [UniProt]	Yes	ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD
RCV000402782 RCV000733110 RCV003114488 rs193204986 CA8974657	358	G>S	Progressive familial intrahepatic cholestasis type 1 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV001128357 rs767126171 CA8974646	386	F>V	Progressive familial intrahepatic cholestasis type 1 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
VAR_043052 RCV000344311 RCV000246161 CA8974642 RCV000971960 rs34315917	393	I>V	Progressive familial intrahepatic cholestasis type 1 [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001128356 rs1484507624	398	T>I	Progressive familial intrahepatic cholestasis type 1 [ClinVar]	Yes	ClinVar dbSNP
VAR_043053	403	S>Y	PFIC1 [UniProt]	Yes	UniProt
VAR_043054	412	R>P	PFIC1 [UniProt]	Yes	UniProt
RCV000442917 RCV000767080 CA8974608 VAR_043055 RCV001126304 rs34018205	429	E>A	Progressive familial intrahepatic cholestasis type 1 [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs755385749 CA8974603 RCV001330097	442	N>S	Benign recurrent intrahepatic cholestasis type 1 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
VAR_043056	453	S>Y	BRIC1 [UniProt]	Yes	UniProt
VAR_043057	454	D>G	BRIC1 [UniProt]	Yes	UniProt
RCV000007696 rs121909104 CA254136 VAR_043058	456	T>M	Variant assessed as Somatic; impact. Progressive familial intrahepatic cholestasis type 1 PFIC1 [NCI-TCGA, ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl NCI-TCGA dbSNP
RCV000591168 rs142231389 RCV001126303 CA8974570	480	R>W	Progressive familial intrahepatic cholestasis type 1 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs147642236 RCV000396790 RCV001126302 CA8974542 VAR_043059	500	Y>H	Progressive familial intrahepatic cholestasis type 1 PFIC1 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD
CA10647950 RCV000392191 rs886054011	519	G>E	Progressive familial intrahepatic cholestasis type 1 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs756395915 RCV001175590	529	F>missing	Progressive familial intrahepatic cholestasis [ClinVar]	Yes	ClinVar dbSNP
VAR_043060	529	F>del	PFIC1 [UniProt]	Yes	UniProt
VAR_043061	535	H>L	PFIC1 [UniProt]	Yes	UniProt
VAR_015423 rs121909101 CA340666 RCV000734790 RCV000007692	554	D>N	Progressive familial intrahepatic cholestasis type 1 PFIC1; greatly reduced expression due to proteosomal degradation; abolishes interaction with TMEM30A [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt dbSNP gnomAD
rs372806297 RCV000340667 RCV002521173 CA8974498 RCV003155163	561	A>T	Progressive familial intrahepatic cholestasis type 1 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA8974493 RCV000283339 rs35140429 RCV000730370	571	A>T	Progressive familial intrahepatic cholestasis type 1 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000375631 CA8974491 RCV000250895 VAR_029272 rs3745078 RCV000890202	577	I>V	Progressive familial intrahepatic cholestasis type 1 [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA8974490 rs33963153 RCV000423273 VAR_043062 RCV000318651 RCV000433833	580	S>N	Progressive familial intrahepatic cholestasis type 1 [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA8974485 rs35238397 RCV003165956 RCV000728140 RCV001125341	585	E>G	Inborn genetic diseases Progressive familial intrahepatic cholestasis type 1 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1202682161 CA402560651 VAR_043063 RCV000593026	600	R>Q	Variant assessed as Somatic; 0.0 impact. BRIC1; compound heterozygote with N-70 [NCI-TCGA, UniProt]	Yes	ClinGen ClinVar UniProt NCI-TCGA dbSNP gnomAD
VAR_043064 CA402560653 rs780186596	600	R>W	BRIC1 [UniProt]	Yes	ClinGen UniProt ExAC dbSNP gnomAD
RCV001250187 CA254138 RCV000007697 rs121909105	602	R>*	Familial intrahepatic cholestasis type 1 Variant assessed as Somatic; 0.0 impact. Progressive familial intrahepatic cholestasis type 1 [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar NCI-TCGA dbSNP gnomAD
CA8974472 RCV000374292 RCV002521957 RCV001125340 rs369553314	605	I>V	Inborn genetic diseases Progressive familial intrahepatic cholestasis type 1 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
VAR_043065 rs752045131 CA8974444	628	R>W	BRIC1 [UniProt]	Yes	ClinGen UniProt ExAC dbSNP gnomAD
RCV002521172 rs202100663 RCV000279636 RCV000593056 CA8974442	630	H>Y	Inborn genetic diseases Progressive familial intrahepatic cholestasis type 1 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV000175188 RCV002516664 CA240890 rs150499790	631	R>Q	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
VAR_008811	645	I>del	PFIC1 [UniProt]	Yes	UniProt
RCV003155019 RCV000007689 RCV000007690 RCV000723736 VAR_008812 rs121909100 CA254134	661	I>T	Progressive familial intrahepatic cholestasis Benign recurrent intrahepatic cholestasis type 1 Progressive familial intrahepatic cholestasis type 1 BRIC1 and PFIC1; common mutation; reduces interaction with TMEM30A [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD
rs1555689790 RCV000764166 CA402556617 RCV000597677	661	I>V	Progressive familial intrahepatic cholestasis type 1 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000726821 RCV000114321 CA345468 RCV000624843 rs515726137 RCV002509220	665	E>*	Progressive familial intrahepatic cholestasis Variant assessed as Somatic; impact. Inborn genetic diseases Progressive familial intrahepatic cholestasis type 1 [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar NCI-TCGA dbSNP gnomAD
VAR_043066 RCV000371826 CA8974411 rs35470719 RCV000890201 RCV000254029	674	M>T	Progressive familial intrahepatic cholestasis type 1 [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
VAR_043067 rs1337978497 CA402556110	688	D>G	PFIC1 [UniProt]	Yes	ClinGen UniProt dbSNP gnomAD
rs541474497 CA8974402 VAR_043068	694	I>T	BRIC1 [UniProt]	Yes	ClinGen UniProt ExAC TOPMed dbSNP gnomAD
rs1350369369 CA402555188 VAR_043069	733	G>R	PFIC1 [UniProt]	Yes	ClinGen UniProt TOPMed dbSNP
RCV000991407 RCV001254601 rs1057524081 CA402554701	751	E>*	Progressive familial intrahepatic cholestasis type 1 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001122549 rs201392345 CA8974309 RCV000731222	754	T>I	Progressive familial intrahepatic cholestasis type 1 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs1599090593 RCV000856822 CA402554567	761	I>N	Progressive familial intrahepatic cholestasis type 1 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA402553748 rs757090822 RCV001122548	774	N>K	Progressive familial intrahepatic cholestasis type 1 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
VAR_008814	795	G>del	BRIC1 [UniProt]	Yes	UniProt
VAR_043070 rs34018300 CA201894 RCV001122547 RCV000905449 RCV000176309	814	K>N	Progressive familial intrahepatic cholestasis type 1 [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs568134011 CA8974236 RCV000307433	833	R>Q	Progressive familial intrahepatic cholestasis type 1 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV000764165 RCV000727533 RCV001122546 CA8974229 rs144656719 RCV001330098	849	R>Q	Variant assessed as Somatic; 0.0 impact. Benign recurrent intrahepatic cholestasis type 1 Progressive familial intrahepatic cholestasis type 1 [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs773092889 CA8974225 VAR_043071	853	F>S	PFIC1 [UniProt]	Yes	ClinGen UniProt ExAC dbSNP gnomAD
RCV002533116 RCV000730027 rs774396862 CA8974222	862	A>T	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs121909103 VAR_043072 RCV000007695 CA118648	867	R>C	Cholestasis, intrahepatic, of pregnancy, 1 Cholestasis, intrahepatic, of pregnancy, 1 (icp1) ICP1; reduces interaction with TMEM30A [ClinVar, Ensembl, UniProt]	Yes	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
rs121909098 VAR_008813 RCV000007685 CA254129	892	G>R	Progressive familial intrahepatic cholestasis type 1 PFIC1 and BRIC1 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
RCV000729794 CA8974172 rs200648620 RCV001122544 RCV002535133	908	V>I	Inborn genetic diseases Progressive familial intrahepatic cholestasis type 1 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV000250576 RCV001128269 rs35623014 CA8974161 RCV000894906	930	R>Q	Progressive familial intrahepatic cholestasis type 1 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs752757689 RCV000778535	947	M>*	Progressive familial intrahepatic cholestasis type 1 [ClinVar]	Yes	ClinVar dbSNP
CA8974144 RCV000361416 RCV002519923 VAR_029273 rs12968116 RCV000242349	952	R>Q	Progressive familial intrahepatic cholestasis type 1 [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA10651149 rs886054010 RCV000404649	980	Y>C	Progressive familial intrahepatic cholestasis type 1 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
rs747325752 RCV000339338 CA8974108	990	V>M	Progressive familial intrahepatic cholestasis type 1 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
VAR_071046	1012	S>I	PFIC1 [UniProt]	Yes	UniProt
RCV000347420 RCV000335042 rs199514707 CA8974084	1020	I>T	Progressive familial intrahepatic cholestasis type 1 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1438249656 VAR_043073 CA402544349	1040	G>R	PFIC1; greatly reduces interaction with TMEM30A [UniProt]	Yes	ClinGen UniProt TOPMed dbSNP
RCV000990110 rs1599066459 CA402541772	1132	F>V	Progressive familial intrahepatic cholestasis type 1 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001330099 rs1909527634	1158	L>P	Progressive familial intrahepatic cholestasis type 1 [ClinVar]	Yes	ClinVar dbSNP
CA8974000 rs771155047 RCV000350268 RCV002523048	1161	V>I	Inborn genetic diseases Progressive familial intrahepatic cholestasis type 1 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001335302 rs946672182 CA300864923 RCV000731164	1165	F>Y	Benign recurrent intrahepatic cholestasis type 1 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
CA8973941 rs774849132 RCV001125232	1225	R>S	Progressive familial intrahepatic cholestasis type 1 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001125230 RCV000731202 rs146405857 CA8973923	1243	A>T	Progressive familial intrahepatic cholestasis type 1 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs543866898 RCV000351141 RCV002519227 CA8973920	1247	R>C	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs775880168 CA8974963	2	S>R		No	ClinGen ExAC gnomAD
rs1252811854 CA402557596	4	E>G		No	ClinGen gnomAD
rs1203634859 CA402557588	5	R>G		No	ClinGen TOPMed gnomAD
rs1211051420 CA402557567	6	D>G		No	ClinGen gnomAD
CA300871510 rs911376490	7	S>L		No	ClinGen Ensembl
rs150268416 RCV000597807 CA8974960	9	T>M		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs778325634 CA8974957	13	E>G		No	ClinGen ExAC gnomAD
rs747649285 CA402557481	13	E>Q		No	ClinGen ExAC gnomAD
rs1440466306 CA402557438	16	Q>*		No	ClinGen gnomAD
CA402557382 rs1455274169	20	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA402557363 rs1360692466	21	V>M		No	ClinGen TOPMed
CA402557351 rs1421000531	22	V>F		No	ClinGen TOPMed
rs1345769999 CA402557334	23	P>L		No	ClinGen gnomAD
TCGA novel	24	Y>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8974953 rs756469755	31	D>G		No	ClinGen ExAC gnomAD
CA402557193 rs1193811238	32	E>K		No	ClinGen gnomAD
CA402557150 rs750811791	35	D>A		No	ClinGen ExAC gnomAD
CA8974952 RCV000490142 rs750811791	35	D>G		No	ClinGen ClinVar ExAC dbSNP gnomAD
rs1448513538 CA402557140	36	Q>E		No	ClinGen Ensembl
rs904280533 CA300871479	37	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs757640278 CA8974950	39	A>V		No	ClinGen ExAC TOPMed gnomAD
CA8974949 rs752127332	40	V>I		No	ClinGen ExAC gnomAD
rs775827012 CA8974946	46	R>*		No	ClinGen ExAC gnomAD
rs1346064794 CA402557001	46	R>Q		No	ClinGen gnomAD
rs1006049904 CA300871458	52	E>K		No	ClinGen Ensembl
rs771902027 CA402556793	53	E>D		No	ClinGen ExAC gnomAD
CA8974942 rs748019148	54	N>K		No	ClinGen ExAC gnomAD
rs1441989094 CA402556775	54	N>S		No	ClinGen gnomAD
CA402556773 rs1441989094	54	N>T		No	ClinGen gnomAD
rs573686134 CA8974941	55	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA402556751 rs1173790563	56	E>K		No	ClinGen gnomAD
rs1056018943 CA300871438	58	F>L		No	ClinGen Ensembl
rs1001337934 CA300871432	59	R>G		No	ClinGen gnomAD
CA402556650 rs1429434105	60	K>N		No	ClinGen gnomAD
CA300865531 rs764368678	61	E>V		No	ClinGen Ensembl
RCV000594863 CA8974922 rs140577068	62	C>R		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA402550900 rs1336814862	64	W>R		No	ClinGen gnomAD
CA402550820 rs1293790205	65	Q>H		No	ClinGen gnomAD
CA8974919 rs34719006	70	D>Y	Cholestasis, intrahepatic, of pregnancy, 1 (icp1) [Ensembl]	No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA402550609 rs1342174222	74	H>R		No	ClinGen TOPMed
rs1391600031 CA402550613	74	H>Y		No	ClinGen gnomAD
CA402550602 rs1296782918	75	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1463309356 CA402550589	75	E>V		No	ClinGen gnomAD
CA8974914 rs747431426	80	M>I		No	ClinGen ExAC gnomAD
rs371328586 CA300865510	80	M>T		No	ClinGen ESP TOPMed
TCGA novel	81	N>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs548735781 CA300865507	82	T>I		No	ClinGen gnomAD
rs1305626000 CA402550339	84	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA402550313 rs1418697517	86	C>G		No	ClinGen gnomAD
rs759044685 CA8974912	86	C>W		No	ClinGen ExAC gnomAD
CA402550238 rs1432233421	89	E>A		No	ClinGen TOPMed
CA8974910 rs778804194	90	S>G		No	ClinGen ExAC gnomAD
CA8974909 rs755110678	90	S>N		No	ClinGen ExAC gnomAD
rs1221739605 CA402550162	92	Y>H		No	ClinGen TOPMed gnomAD
CA300865491 rs909833944	93	A>V		No	ClinGen TOPMed gnomAD
rs920055891 CA300864935	94	N>K		No	ClinGen Ensembl
rs1434811240 CA402549806	94	N>S		No	ClinGen TOPMed gnomAD
CA402549796 rs1430197142	95	N>T		No	ClinGen TOPMed
CA402549786 rs1328591686	96	A>S		No	ClinGen gnomAD
TCGA novel	96	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs754983094 CA8974889	100	Y>H		No	ClinGen ExAC gnomAD
RCV000592748 rs1555693514	101	K>missing		No	ClinVar dbSNP
rs201499091 CA300864929	102	Y>C		No	ClinGen TOPMed gnomAD
rs201499091 CA402549675	102	Y>F		No	ClinGen TOPMed gnomAD
rs1261063802 CA402549650	103	N>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1394752340 CA402549593	106	T>S		No	ClinGen gnomAD
TCGA novel	108	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1599135426 CA402549485	113	F>L		No	ClinGen Ensembl
rs1330004885 CA402549327	119	A>T		No	ClinGen Ensembl
CA402549233 rs554824409 CA402549230	122	L>F		No	ClinGen TOPMed gnomAD
rs762835295 CA8974883	123	Y>H		No	ClinGen ExAC gnomAD
rs765265532 CA8974881	129	I>V		No	ClinGen ExAC TOPMed gnomAD
rs749754347 CA8974853	133	V>A		No	ClinGen ExAC TOPMed gnomAD
CA8974850 rs745994989	140	A>P		No	ClinGen ExAC gnomAD
rs1397877990 CA402547414	141	W>G		No	ClinGen gnomAD
rs999496816 CA300863882	142	Y>C		No	ClinGen TOPMed
CA300863878 rs937836090	143	T>S		No	ClinGen TOPMed
CA8974849 rs781375943	144	T>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1599132109 CA402547309	145	L>P		No	ClinGen Ensembl
CA8974847 rs747196160	146	V>L		No	ClinGen ExAC gnomAD
CA8974846 RCV000598263 rs778716817	147	P>A		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA402547253 rs1470940828	147	P>L		No	ClinGen gnomAD
CA402547225 rs1456673479	149	L>F		No	ClinGen TOPMed gnomAD
CA402547230 rs1456673479	149	L>I		No	ClinGen TOPMed gnomAD
rs1232017307 CA402547195	150	V>G		No	ClinGen TOPMed
CA402547208 rs1275442827	150	V>M		No	ClinGen gnomAD
rs753790006 CA8974844	151	V>M		No	ClinGen ExAC gnomAD
rs755666127 CA8974842	154	V>I		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	155	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs933557076 CA300863861	156	A>E		No	ClinGen TOPMed
CA402547000 rs1225579851	158	K>E		No	ClinGen gnomAD
CA402546853 rs1374298328	163	D>N		No	ClinGen gnomAD
rs1473688808 CA402546811	164	V>A		No	ClinGen TOPMed
rs886054014 CA300863803	165	A>V		No	ClinGen Ensembl
CA8974825 rs756188919	166	R>C		No	ClinGen ExAC TOPMed gnomAD
CA8974824 rs750391226	166	R>H		No	ClinGen ExAC gnomAD
CA300863795 rs374202677	167	H>R		No	ClinGen TOPMed
rs1461534052 CA402546661	169	M>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA402546636 rs1188737565	170	D>G		No	ClinGen gnomAD
rs571233811 CA402546641	170	D>H		No	ClinGen 1000Genomes ExAC gnomAD
CA8974822 rs571233811	170	D>N		No	ClinGen 1000Genomes ExAC gnomAD
RCV000596592 rs372654764 CA8974821	171	K>E		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA402546609 rs1443897036	171	K>R		No	ClinGen TOPMed
rs986247709 CA300863786	172	E>A		No	ClinGen gnomAD
rs986247709 CA402546585	172	E>G		No	ClinGen gnomAD
rs371249083 CA300863782	173	I>V		No	ClinGen Ensembl
rs147183894 CA8974820	175	N>H		No	ClinGen ESP ExAC gnomAD
CA8974819 rs763288026	175	N>K		No	ClinGen ExAC gnomAD
rs759974970 CA8974816	179	E>K		No	ClinGen ExAC gnomAD
rs113138823 CA300863766	180	V>A		No	ClinGen Ensembl
CA402546260 rs1299005182	183	D>G		No	ClinGen gnomAD
CA300863763 rs865957374	183	D>N		No	ClinGen Ensembl
CA402546249 RCV000728690 rs1568202260	184	G>S		No	ClinGen ClinVar Ensembl dbSNP
TCGA novel	186	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	196	V>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs759929934 CA8974798	199	V>I		No	ClinGen ExAC TOPMed gnomAD
RCV000520505 rs375773988 CA8974797	201	R>C		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA8974796 rs766847937	201	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs766847937 CA402545094	201	R>L		No	ClinGen ExAC TOPMed gnomAD
CA300862682 rs1033503458	204	K>T		No	ClinGen TOPMed
RCV000731913 rs761784230	205	N>missing		No	ClinVar dbSNP
rs761784230	205	N>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs761784230	205	N>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs372472702 CA8974795	205	N>S		No	ClinGen ESP ExAC gnomAD
rs898578447 CA300862672	207	F>L		No	ClinGen TOPMed
rs898578447 CA402545050	207	F>V		No	ClinGen TOPMed
CA8974791 rs535998516	208	V>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
rs1323412373 CA402544993	210	A>D		No	ClinGen gnomAD
RCV000351926 CA10606099 rs886043907	211	D>A		No	ClinGen ClinVar dbSNP gnomAD
TCGA novel	211	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA300862581 rs914316404	213	L>F		No	ClinGen Ensembl
CA8974763 rs754655083	213	L>P		No	ClinGen ExAC gnomAD
rs570839179 CA8974761	217	S>G		No	ClinGen 1000Genomes ExAC gnomAD
rs942875731 CA300862567	219	E>G		No	ClinGen Ensembl
rs200047912 CA300862564	221	N>T		No	ClinGen gnomAD
rs1172095440 CA402544770	222	S>N		No	ClinGen TOPMed
rs1455374706 CA402544754	223	L>F		No	ClinGen gnomAD
rs200856790 CA8974760	224	C>G		No	ClinGen 1000Genomes ExAC gnomAD
rs1363873279 CA402544719	225	Y>F		No	ClinGen gnomAD
rs1216749210 CA402544674	229	A>T		No	ClinGen gnomAD
rs912699191 CA300862550	231	L>M		No	ClinGen Ensembl
rs319438 CA8974756	232	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs868595600 CA300862540	233	G>E		No	ClinGen Ensembl
rs1346075432 CA402544587	233	G>R		No	ClinGen gnomAD
rs868595600 CA300862537	233	G>V		No	ClinGen Ensembl
rs573491571 CA8974737	235	T>S		No	ClinGen 1000Genomes ExAC gnomAD
rs1568199927 CA402543193	240	K>R		No	ClinGen Ensembl
CA8974736 rs141225227	241	M>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA8974735 rs752834897	243	L>F		No	ClinGen ExAC gnomAD
rs1338514004 CA402542957	247	D>A		No	ClinGen TOPMed gnomAD
CA8974734 rs765549405	247	D>H		No	ClinGen ExAC TOPMed gnomAD
rs1568199904 CA402542909	248	Q>E		No	ClinGen Ensembl
CA8974733 rs760377123	251	Q>R		No	ClinGen ExAC
CA402542700 rs1052245496	254	D>E		No	ClinGen TOPMed gnomAD
CA300861784 rs148189106	255	T>I		No	ClinGen ESP TOPMed gnomAD
CA402542374 rs1223932021	263	I>M		No	ClinGen TOPMed
rs781639439 CA8974719	264	E>K		No	ClinGen ExAC gnomAD
CA402542281 rs1282581026	267	E>K		No	ClinGen TOPMed gnomAD
CA8974718 rs536293311	269	N>D		No	ClinGen 1000Genomes ExAC gnomAD
CA8974717 rs319443	271	R>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA402542207 rs319443	271	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs758388964 CA8974715	271	R>K		No	ClinGen ExAC
CA402542202 rs1222978652	272	L>I		No	ClinGen gnomAD
rs1419408356 CA402542193	273	D>G		No	ClinGen TOPMed
TCGA novel	273	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA402542186 rs1183696893	274	K>T		No	ClinGen TOPMed
CA300861719 rs1004758146	276	T>I		No	ClinGen TOPMed gnomAD
CA300861721 rs1016471493	276	T>S		No	ClinGen TOPMed gnomAD
CA402542166 rs1164197923	277	G>E		No	ClinGen TOPMed
CA402542160 rs1398075819	278	T>K		No	ClinGen gnomAD
rs1343934804 CA402542151	280	F>L		No	ClinGen gnomAD
RCV000521644 CA402542149 rs1555692584	280	F>S		No	ClinGen ClinVar Ensembl dbSNP
TCGA novel	281	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA300861711 rs926401192	282	R>K		No	ClinGen TOPMed gnomAD
rs1441225858 CA402542120	284	T>A		No	ClinGen gnomAD
CA8974712 rs538770609	284	T>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1178450509 CA402542115	285	S>G		No	ClinGen gnomAD
CA402542094 rs1255386443	288	L>V		No	ClinGen gnomAD
rs1451044341 CA402542081	290	A>T		No	ClinGen gnomAD
CA8974709 rs757077093	296	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs768218286 CA8974708	298	C>Y		No	ClinGen ExAC gnomAD
rs552122372 CA8974707	299	V>A		No	ClinGen 1000Genomes ExAC gnomAD
rs1009797447 CA300861682	303	T>A		No	ClinGen Ensembl
CA8974701 rs747429748	307	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs1007521320 CA300861654	308	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	310	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	311	I>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8974685 rs759154900	318	K>Q		No	ClinGen ExAC gnomAD
rs1182408411 CA402541510	319	I>V		No	ClinGen gnomAD
rs1599124363 CA402541479	320	M>K		No	ClinGen Ensembl
CA8974684 rs776398424	322	N>S		No	ClinGen ExAC gnomAD
rs766195118 CA8974683	323	S>N		No	ClinGen ExAC gnomAD
CA300861375 rs1004057479	325	K>E		No	ClinGen TOPMed gnomAD
rs542923613 CA8974682	326	T>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA402541295 rs1423636487	326	T>I		No	ClinGen gnomAD
CA402541250 rs1484564694	328	F>S		No	ClinGen gnomAD
CA300861369 rs983363281	330	R>I		No	ClinGen TOPMed
rs1281922730 CA402541181	330	R>S		No	ClinGen TOPMed
CA402541175 rs1355104396	331	T>A		No	ClinGen TOPMed
CA402541132 rs1568199461	333	I>V		No	ClinGen Ensembl
TCGA novel	336	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	337	M>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs772340678 CA8974680	339	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs772340678 CA402540962	339	Y>S		No	ClinGen ExAC TOPMed gnomAD
rs748640251 CA402540867	343	T>K		No	ClinGen ExAC TOPMed gnomAD
rs748640251 CA8974679	343	T>M		No	ClinGen ExAC TOPMed gnomAD
rs1231339266	344	I>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA402540613 rs1256839040	346	V>F		No	ClinGen gnomAD
rs1323022739 CA402540603	347	V>I		No	ClinGen gnomAD
TCGA novel	347	V>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8974662 rs56214207	349	I>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA8974661 rs56214207	349	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs976429827 CA300860182	349	I>V		No	ClinGen TOPMed
rs769216572 CA8974660	351	L>P		No	ClinGen ExAC TOPMed gnomAD
CA402540505 rs1333845787	353	A>V		No	ClinGen gnomAD
rs1452613701 CA402540455	355	L>F		No	ClinGen gnomAD
CA300860138 rs193204986	358	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA402540250 rs1425903097	362	W>*		No	ClinGen gnomAD
RCV000332227 rs771875476 CA8974655	365	Q>E		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA8974654 rs771875476	365	Q>K		No	ClinGen ExAC TOPMed gnomAD
CA402540152 rs1474441718	367	G>D		No	ClinGen TOPMed
TCGA novel	369	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs778993351 CA8974652	370	S>F		No	ClinGen ExAC gnomAD
rs1424923627 CA402540075	371	W>*		No	ClinGen TOPMed
CA8974650 rs557696025	376	G>E		No	ClinGen ExAC TOPMed gnomAD
RCV000731037 rs900357360 CA300860101	376	G>R		No	ClinGen ClinVar dbSNP gnomAD
CA402539962 rs1237445817	377	E>K		No	ClinGen TOPMed gnomAD
CA8974648 rs370741889	379	D>N		No	ClinGen ESP ExAC gnomAD
rs1315049206 CA402539892	380	T>I		No	ClinGen TOPMed
CA300860087 rs778153728	381	P>L		No	ClinGen Ensembl
CA402539837 rs1243582151	383	Y>*		No	ClinGen gnomAD
rs200484292 CA402539829	384	R>C		No	ClinGen TOPMed gnomAD
rs200484292 CA300860084	384	R>G		No	ClinGen TOPMed gnomAD
rs2271260 CA8974647 VAR_043051	384	R>H		No	ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
TCGA novel	384	R>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA300860077 rs376838387	385	G>A		No	ClinGen ESP gnomAD
CA402539791 rs376838387	385	G>V		No	ClinGen ESP gnomAD
CA402539788 rs767126171	386	F>L		No	ClinGen ExAC TOPMed gnomAD
CA402539717 rs1307990988	388	I>T		No	ClinGen TOPMed
TCGA novel	389	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1389096922 CA402539622	390	W>C		No	ClinGen gnomAD
rs1391526205 CA402539616	391	G>S		No	ClinGen gnomAD
rs1249043461 CA402539597	391	G>V		No	ClinGen TOPMed
CA8974644 rs751854136	392	Y>F		No	ClinGen ExAC gnomAD
CA402539592 rs1293068681	392	Y>H		No	ClinGen gnomAD
CA8974641 rs776007345	393	I>M		No	ClinGen ExAC TOPMed gnomAD
CA402539541 rs1568198034	395	V>I		No	ClinGen Ensembl
CA402539485 rs1484507624	398	T>S		No	ClinGen TOPMed
rs769882309 CA8974640	401	P>S		No	ClinGen ExAC gnomAD
CA402539423 rs1179570288	402	I>M		No	ClinGen TOPMed gnomAD
CA8974638 rs776895822	405	Y>C		No	ClinGen ExAC gnomAD
TCGA novel	406	V>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10605869 rs886043726 RCV000314253	406	V>I		No	ClinGen ClinVar TOPMed dbSNP gnomAD
rs776511349 CA8974619	408	V>M		No	ClinGen ExAC gnomAD
CA8974618 rs766497776	411	I>V		No	ClinGen ExAC TOPMed gnomAD
RCV000730278 rs760934663 CA8974617	412	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD
rs1255865836 CA402538191	412	R>H		No	ClinGen gnomAD
CA8974616 rs773604291	417	H>P		No	ClinGen ExAC gnomAD
CA402538072 rs1342447276	417	H>Y		No	ClinGen gnomAD
RCV000730740 rs768539693 CA8974615	419	I>N		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs768539693 CA402538018	419	I>S		No	ClinGen ExAC TOPMed gnomAD
rs1324867435 CA402538013	420	N>H		No	ClinGen TOPMed gnomAD
CA8974614 rs749145384	420	N>S		No	ClinGen ExAC TOPMed gnomAD
CA402538005 rs1324867435	420	N>Y		No	ClinGen TOPMed gnomAD
rs376374396 CA8974613 RCV000478185	423	L>M		No	ClinGen ClinVar ESP ExAC dbSNP gnomAD
CA402537912 rs1175608512	424	Q>K		No	ClinGen gnomAD
rs1568196750 RCV000732402 CA402537873	425	M>R		No	ClinGen ClinVar Ensembl dbSNP
CA8974611 rs372995250	425	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	427	Y>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8974609 rs756822189	429	E>K		No	ClinGen ExAC gnomAD
CA402537748 rs1239956112	431	D>Y		No	ClinGen gnomAD
rs922249900 CA300858583	433	P>S		No	ClinGen TOPMed
rs201610323 CA300858568	434	A>E		No	ClinGen Ensembl
rs758746529 CA402537731	434	A>P		No	ClinGen ExAC TOPMed gnomAD
rs758746529 CA300858572	434	A>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs758746529 CA8974606	434	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs181158716 CA300858564	435	K>T		No	ClinGen 1000Genomes
CA300858561 rs78450955	437	R>K		No	ClinGen Ensembl
CA8974605 rs753124322	438	T>A		No	ClinGen ExAC gnomAD
rs765641987 CA8974604	440	T>A		No	ClinGen ExAC gnomAD
CA300858532 rs748678541	441	L>F		No	ClinGen Ensembl
rs1029251697 CA300858518	444	Q>H		No	ClinGen TOPMed gnomAD
rs754395077 CA8974602	444	Q>L		No	ClinGen ExAC gnomAD
rs1443328607 CA402537661	446	G>R		No	ClinGen TOPMed gnomAD
TCGA novel	447	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	451	I>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8974600 rs760877660	451	I>M		No	ClinGen ExAC TOPMed gnomAD
CA402537617 rs773547169	452	F>L		No	ClinGen ExAC gnomAD
CA8974599 rs773547169	452	F>V		No	ClinGen ExAC gnomAD
TCGA novel	459	L>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1599117428 CA402537571	459	L>V		No	ClinGen Ensembl
rs1194061610 CA402537556	461	Q>R		No	ClinGen TOPMed gnomAD
CA300858499 rs910086661	463	I>T		No	ClinGen gnomAD
CA8974596 rs775087934	466	F>C		No	ClinGen ExAC gnomAD
TCGA novel	467	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA402537311 rs1368235673	468	K>N		No	ClinGen gnomAD
CA402537265 rs1555691911 RCV000592269	471	I>M		No	ClinGen ClinVar Ensembl dbSNP
rs1568196635 CA402537255	472	N>S		No	ClinGen Ensembl
rs781746896 CA300858479	473	G>R		No	ClinGen TOPMed gnomAD
CA402537187 rs1198572168	476	Y>H		No	ClinGen gnomAD
RCV000728773 CA8974573 rs200214627	478	D>G		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA402566344 rs1451133441	478	D>H		No	ClinGen gnomAD
CA402566334 rs1355579885	479	H>L		No	ClinGen gnomAD
CA8974572 rs75460259	479	H>Y		No	ClinGen 1000Genomes ExAC gnomAD
rs1285236949 CA402566326	480	R>P		No	ClinGen TOPMed
CA402566328 rs1285236949	480	R>Q		No	ClinGen TOPMed
rs1359097412 CA402566316	481	D>G		No	ClinGen TOPMed
CA8974569 rs747718826	481	D>H		No	ClinGen ExAC gnomAD
rs540940518 CA300896939	482	A>V		No	ClinGen 1000Genomes
rs1276579379 CA402566291	483	S>F		No	ClinGen gnomAD
rs753038709 CA300896925	489	K>R		No	ClinGen Ensembl
CA8974565 rs780704126	490	I>M		No	ClinGen ExAC gnomAD
CA300896905 rs749719993	490	I>R		No	ClinGen ExAC TOPMed gnomAD
CA8974566 RCV000352009 rs749719993	490	I>T		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs770312089 CA8974546	493	V>A		No	ClinGen ExAC TOPMed gnomAD
CA8974547 rs775941339	493	V>I		No	ClinGen ExAC TOPMed gnomAD
CA402566040 rs1371427264	495	F>C		No	ClinGen TOPMed gnomAD
rs377614965 CA402566035	495	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs781776773 CA8974544	496	S>G		No	ClinGen ExAC gnomAD
rs757270859 CA8974543	497	W>G		No	ClinGen ExAC gnomAD
rs147642236 CA402565977	500	Y>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA8974539 rs374483155	501	A>G		No	ClinGen ESP ExAC gnomAD
rs777716024 CA8974541	501	A>T		No	ClinGen ExAC TOPMed
CA402565930 rs1185000606	503	G>E		No	ClinGen gnomAD
CA8974538 rs752941981	508	Y>C		No	ClinGen ExAC gnomAD
rs755947237 CA402565847	509	D>E		No	ClinGen ExAC TOPMed gnomAD
rs766125810 CA8974537	509	D>N		No	ClinGen ExAC gnomAD
CA402565822 rs1219881062	511	Y>C		No	ClinGen gnomAD
CA8974535 rs543100481	511	Y>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA300896284 rs775304267	512	L>F		No	ClinGen Ensembl
CA8974534 rs772028343	513	I>T		No	ClinGen ExAC gnomAD
rs113299479 CA300896258	515	Q>K		No	ClinGen Ensembl
rs761225117 CA8974533	516	I>V		No	ClinGen ExAC gnomAD
rs1459033812 CA402565748	517	Q>*		No	ClinGen Ensembl
CA8974532 rs773846546	518	S>L		No	ClinGen ExAC gnomAD
TCGA novel	518	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8974531 rs763527501	519	G>R		No	ClinGen ExAC gnomAD
rs1015989471 CA300896205	520	K>N		No	ClinGen gnomAD
rs1452513272 CA402565712	520	K>T		No	ClinGen gnomAD
rs145322478 CA8974530	521	E>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs775319765 CA8974529	523	E>A		No	ClinGen ExAC gnomAD
rs1372640016 CA402565658	524	V>E		No	ClinGen gnomAD
rs770257115 CA8974528	525	R>*		No	ClinGen ExAC gnomAD
rs770257115 CA402565652	525	R>G		No	ClinGen ExAC gnomAD
CA8974527 rs377461740	525	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA402565614 rs1183928819	528	F>L		No	ClinGen gnomAD
rs1443800628 CA402565581	530	L>S		No	ClinGen TOPMed gnomAD
CA8974524 rs745855521	532	A>T		No	ClinGen ExAC gnomAD
TCGA novel	532	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA402565480 rs1315352983	538	M>T		No	ClinGen gnomAD
rs1245641791 CA402565471	539	V>M		No	ClinGen gnomAD
CA402565452 rs1381062005	540	D>V		No	ClinGen gnomAD
rs1195185229 CA402565422	542	T>I		No	ClinGen TOPMed gnomAD
CA8974521 rs758440267	543	D>H		No	ClinGen ExAC gnomAD
TCGA novel	545	Q>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs148453277 CA8974506	545	Q>H		No	ClinGen ESP ExAC gnomAD
CA10606192 RCV000357264 rs886043983	545	Q>K		No	ClinGen ClinVar Ensembl dbSNP
CA402561995 rs1599102215	547	N>T		No	ClinGen Ensembl
rs1599102208 CA402561975	548	Y>S		No	ClinGen Ensembl
CA402561914 rs1356673393	551	A>D		No	ClinGen TOPMed gnomAD
rs1356673393 CA402561910	551	A>G		No	ClinGen TOPMed gnomAD
TCGA novel	551	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs772171387 CA8974503	556	G>D		No	ClinGen ExAC TOPMed gnomAD
rs773633682 CA8974504	556	G>R		No	ClinGen ExAC gnomAD
CA8974501 rs748285109	557	A>S		No	ClinGen ExAC gnomAD
CA8974500 rs779106666	557	A>V		No	ClinGen ExAC gnomAD
CA402561682 rs1269042777	559	V>I		No	ClinGen gnomAD
rs906857413 CA300889144	566	G>D		No	ClinGen TOPMed
rs751490232 CA8974495	568	A>V		No	ClinGen ExAC gnomAD
rs1259418259 CA402561356	569	F>C		No	ClinGen gnomAD
CA402561338 rs1481463180	570	L>F		No	ClinGen TOPMed
rs752188347 CA402561299	571	A>G		No	ClinGen ExAC TOPMed gnomAD
rs752188347 CA8974492	571	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1422849081 CA402561121	579	I>V		No	ClinGen TOPMed
rs111938328 CA8974487	584	T>I		No	ClinGen ExAC gnomAD
CA8974488 rs766737165	584	T>S		No	ClinGen ExAC TOPMed gnomAD
rs1599101965 CA402560950	585	E>*		No	ClinGen Ensembl
rs762316095 CA300889105	586	R>K		No	ClinGen ExAC gnomAD
CA8974484 rs762316095	586	R>M		No	ClinGen ExAC gnomAD
CA8974483 rs774359894	590	V>L		No	ClinGen ExAC gnomAD
CA8974482 rs768748501	593	I>L		No	ClinGen ExAC gnomAD
CA8974481 CA402560706 rs749474911	596	F>L		No	ClinGen ExAC gnomAD
CA8974477 rs777624576	601	K>N		No	ClinGen ExAC TOPMed gnomAD
rs770742986 CA8974479	601	K>R		No	ClinGen ExAC gnomAD
rs758353144 CA8974476	602	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA8974474 rs778525348	603	M>I		No	ClinGen ExAC gnomAD
CA8974475 rs752703482	603	M>V		No	ClinGen ExAC gnomAD
CA402560544 rs375054776	605	I>M		No	ClinGen ESP ExAC gnomAD
CA402560529 rs1406662534	606	I>T		No	ClinGen gnomAD
CA8974469 rs750691225	607	V>L		No	ClinGen ExAC gnomAD
TCGA novel	608	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs750116059 CA8974447	609	T>A		No	ClinGen ExAC gnomAD
rs1276882998 CA402559052	609	T>N		No	ClinGen TOPMed
CA300886369 rs866340178	611	E>*		No	ClinGen Ensembl
rs375040598 CA402558924	615	K>N		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	627	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA402558630 rs752045131	628	R>G		No	ClinGen ExAC gnomAD
CA8974443 rs747906077	628	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA8974441 rs775370485	631	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA8974440 rs759637175	632	M>V		No	ClinGen ExAC TOPMed gnomAD
rs777032365 CA8974439	634	P>S		No	ClinGen ExAC gnomAD
CA8974438 rs142359986	635	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs531921215 CA8974437	635	T>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA402558439 rs1174297947	636	K>Q		No	ClinGen TOPMed gnomAD
CA300886313 rs774428105	638	E>A		No	ClinGen ExAC gnomAD
RCV000733582 CA8974436 rs774428105	638	E>V		No	ClinGen ClinVar ExAC dbSNP gnomAD
TCGA novel	639	T>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	639	T>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8974433 rs779385597	641	D>E		No	ClinGen ExAC gnomAD
CA402558303 RCV000729206 rs1422716324	641	D>G		No	ClinGen ClinVar TOPMed dbSNP
CA402556968 rs1599094578	645	I>F		No	ClinGen Ensembl
rs375416931 CA8974421	645	I>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA402556800 rs1347910820	651	L>F		No	ClinGen gnomAD
CA8974420 rs754101505	651	L>P		No	ClinGen ExAC gnomAD
CA402556752 rs1323924998	654	L>P		No	ClinGen Ensembl
rs758992225 CA8974418	655	C>*		No	ClinGen ExAC gnomAD
CA402556727 rs758992225	655	C>W		No	ClinGen ExAC gnomAD
CA402556667 rs1300917954	658	Y>*		No	ClinGen gnomAD
CA402556680 rs1467058798	658	Y>D		No	ClinGen TOPMed
rs1296397254 CA402556640	660	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs374801440 CA8974417	660	E>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs775539807 CA8974415	667	T>I		No	ClinGen ExAC gnomAD
rs769168354 CA8974414	670	N>H		No	ClinGen ExAC gnomAD
rs537871866 CA300884881	670	N>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1188512256 CA402556429	672	K>N		No	ClinGen gnomAD
TCGA novel	673	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA402556355 rs1214962377	676	A>G		No	ClinGen gnomAD
rs746682528 CA402556352	677	S>C		No	ClinGen ExAC gnomAD
rs746682528 CA8974410	677	S>G		No	ClinGen ExAC gnomAD
rs1264949625 CA402556341	677	S>N		No	ClinGen gnomAD
CA402556307 rs1223528174	679	A>T		No	ClinGen gnomAD
CA402556267 rs1599094342	681	T>P		No	ClinGen Ensembl
CA402556225 rs1216021001	683	R>G		No	ClinGen TOPMed gnomAD
CA8974408 rs758837431	683	R>Q		No	ClinGen ExAC gnomAD
CA402556222 rs1216021001	683	R>W		No	ClinGen TOPMed gnomAD
CA8974405 rs558637349	685	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs558637349 CA8974406	685	E>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA402556169 rs1408877578	686	A>T		No	ClinGen gnomAD
TCGA novel	689	K>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8974404 rs753904480	689	K>E		No	ClinGen ExAC gnomAD
CA402556051 rs766580239	691	Y>D		No	ClinGen ExAC gnomAD
rs766580239 CA8974403	691	Y>H		No	ClinGen ExAC gnomAD
rs541474497 CA8974401	694	I>N		No	ClinGen ExAC TOPMed gnomAD
rs763767926 CA8974400	695	E>K		No	ClinGen ExAC gnomAD
rs1419931995 CA402555930	696	K>E		No	ClinGen gnomAD
CA8974399 rs762857853	697	D>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
TCGA novel	698	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8974398 rs146392616	699	I>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs759478541 CA8974396	699	I>M		No	ClinGen ExAC gnomAD
CA300883967 rs890826801	706	I>V		No	ClinGen TOPMed
CA8974356 rs769175157	707	E>K		No	ClinGen ExAC gnomAD
CA8974355 rs749786096	708	D>N		No	ClinGen ExAC gnomAD
rs1179545257 CA402555518	709	K>*		No	ClinGen gnomAD
CA402555516 rs1396538854	709	K>R		No	ClinGen TOPMed
CA402555453 rs1487710117	714	V>I		No	ClinGen gnomAD
CA402555348 rs1187813720	721	L>V		No	ClinGen gnomAD
CA8974351 rs781142371	722	A>S		No	ClinGen ExAC gnomAD
CA402555314 rs1286573918	724	A>T		No	ClinGen gnomAD
rs1225462181 CA402555276	726	I>L		No	ClinGen gnomAD
rs1302793202 CA402555214	730	V>A		No	ClinGen gnomAD
CA8974350 rs142284137	730	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA402555045 rs1290547228	734	D>A		No	ClinGen gnomAD
rs28397944 CA300883912	734	D>N		No	ClinGen Ensembl
rs1294948223 CA402554923	738	T>I		No	ClinGen gnomAD
rs760055104 CA8974316	742	I>M		No	ClinGen ExAC gnomAD
CA8974317 rs371380598	742	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA8974314 rs771028843	745	A>V		No	ClinGen ExAC gnomAD
rs377461289 CA8974313	746	C>S		No	ClinGen ESP ExAC gnomAD
rs1599090692 CA402554755	749	L>P		No	ClinGen Ensembl
rs1057524081 RCV000424560 CA16607628	751	E>K		No	ClinGen ClinVar Ensembl dbSNP
rs1568186302 CA402554670 RCV000728110	752	D>E		No	ClinGen ClinVar Ensembl dbSNP
rs748391460 CA8974311	753	T>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA8974310 rs748391460	753	T>S		No	ClinGen ExAC gnomAD
CA8974308 rs755903141	755	I>V		No	ClinGen ExAC gnomAD
CA402554627 rs1274248706	756	C>W		No	ClinGen TOPMed
rs750355133 CA8974307	757	Y>C		No	ClinGen ExAC gnomAD
rs781052203 CA8974306 RCV000730108	758	G>A		No	ClinGen ClinVar ExAC dbSNP gnomAD
CA402554609 rs1486132158	758	G>R		No	ClinGen TOPMed
CA402554600 rs1599090604	759	E>K		No	ClinGen Ensembl
rs879257656 CA300878460	764	L>H		No	ClinGen Ensembl
CA8974288 rs769621578	767	A>S		No	ClinGen ExAC TOPMed gnomAD
rs1189203617 CA402553912	768	R>K		No	ClinGen gnomAD
CA402553902 rs1198273869	768	R>S		No	ClinGen TOPMed gnomAD
rs745718861 CA8974287	769	M>I		No	ClinGen ExAC gnomAD
rs1187323648 CA402553888	769	M>T		No	ClinGen TOPMed
CA300878443 rs990868739	771	N>S		No	ClinGen Ensembl
rs1374087411 CA402553756	774	N>S		No	ClinGen TOPMed
rs1168582796 CA402553739	775	R>*		No	ClinGen TOPMed
rs746969851 CA8974284	775	R>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA8974283 rs369873164	776	G>D		No	ClinGen ESP ExAC
CA402553717 rs1264516670	776	G>R		No	ClinGen gnomAD
RCV000595422 rs34597611 CA8974281	778	V>I		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA402553649 rs1276075399	779	Y>C		No	ClinGen gnomAD
CA8974279 rs536502512	780	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA402553552 rs754092954	784	P>S		No	ClinGen ExAC TOPMed gnomAD
CA8974278 rs754092954	784	P>T		No	ClinGen ExAC TOPMed gnomAD
rs1443015094 CA402553522	785	P>L		No	ClinGen Ensembl
rs1433578313 CA402553535	785	P>S		No	ClinGen TOPMed gnomAD
rs1385054015 CA402553517	786	V>M		No	ClinGen gnomAD
CA8974277 rs761131819	787	Q>P		No	ClinGen ExAC
rs77317429 CA8974276	788	E>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1357574759 CA402553437	789	S>C		No	ClinGen gnomAD
rs1357574759 CA402553434	789	S>F		No	ClinGen gnomAD
CA300878316 rs987452319	791	F>S		No	ClinGen TOPMed gnomAD
rs1568184131	792	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8974275 rs767564002	793	P>S		No	ClinGen ExAC TOPMed gnomAD
rs371546596 CA8974273	794	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
RCV000733627 CA8974272 rs371546596	794	G>S		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA402553354 rs1244930150	796	N>D		No	ClinGen gnomAD
rs749542887 CA8974271	797	R>C		No	ClinGen ExAC TOPMed gnomAD
CA402553343 rs749542887	797	R>G		No	ClinGen ExAC TOPMed gnomAD
CA8974270 rs776245959	797	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1206262864 CA402553309	800	I>V		No	ClinGen gnomAD
rs1343283702 CA402553278	802	T>S		No	ClinGen gnomAD
rs770796055 CA8974269	804	S>F		No	ClinGen ExAC TOPMed gnomAD
CA8974268 rs746918623	806	L>W		No	ClinGen ExAC gnomAD
CA402552247 rs1457390454	808	E>A		No	ClinGen gnomAD
CA8974244 rs770833303	809	I>L		No	ClinGen ExAC gnomAD
rs1472634616 CA402552206	811	L>V		No	ClinGen gnomAD
RCV000734051 CA8974242 rs773143911	812	E>K		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA402552197 rs773143911	812	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs772076207 CA8974241	814	K>R		No	ClinGen ExAC TOPMed gnomAD
rs1209739533 CA402552142	816	K>E		No	ClinGen gnomAD
rs1568183268 RCV000730280	818	N>missing		No	ClinVar dbSNP
rs200575733 CA8974240	818	N>S		No	ClinGen 1000Genomes ExAC gnomAD
rs768252505 CA8974239	824	K>N		No	ClinGen ExAC gnomAD
CA402551999 rs1328654182	826	P>L		No	ClinGen TOPMed gnomAD
CA8974238 rs376878874	827	R>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1225627274 CA402551973	828	T>I		No	ClinGen gnomAD
rs779815324 CA8974237	831	E>K		No	ClinGen ExAC gnomAD
rs568134011 CA402551879	833	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1406196327 CA402551887	833	R>W		No	ClinGen TOPMed gnomAD
rs750722728 CA8974234	834	M>R		No	ClinGen ExAC gnomAD
rs757716772 CA8974232	835	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs371879699 CA8974233	835	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA402551764 rs1470777949	839	K>*		No	ClinGen gnomAD
rs1039404145 CA300876949	840	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1377878250 CA402551742	840	R>W		No	ClinGen gnomAD
rs1365176125 CA402551681	843	E>D		No	ClinGen TOPMed gnomAD
rs1431818106 CA402551675	844	A>S		No	ClinGen gnomAD
CA402551665 rs1568183202	845	K>R		No	ClinGen Ensembl
rs1189853817 CA402551596	849	R>W		No	ClinGen TOPMed gnomAD
CA300876932 rs34105567	851	K>N		No	ClinGen ExAC gnomAD
rs34681681 CA8974227	852	N>I		No	ClinGen ExAC gnomAD
rs1239758621 CA402551461	852	N>K		No	ClinGen TOPMed
rs34681681 CA8974226	852	N>T		No	ClinGen ExAC gnomAD
TCGA novel	853	F>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs963708713 CA300876901	858	C>Y		No	ClinGen Ensembl
CA8974223 rs761625705	859	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1363794498 CA402551034	863	V>D		No	ClinGen gnomAD
CA300876863 rs958793199	864	I>M		No	ClinGen Ensembl
rs1409156930 CA402550931	866	C>F		No	ClinGen TOPMed
CA8974218 rs745546266 RCV001091653	867	R>H		No	ClinGen ClinVar ExAC dbSNP gnomAD
CA8974216 rs750735500	868	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1568183127 RCV000729264	869	T>missing		No	ClinVar dbSNP
rs778408511 CA8974214	870	P>T		No	ClinGen ExAC
CA8974213 rs758831980	871	K>R		No	ClinGen ExAC gnomAD
TCGA novel	871	K>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8974211 rs765429033	875	M>I		No	ClinGen ExAC TOPMed gnomAD
rs752763738 CA8974212	875	M>T		No	ClinGen ExAC gnomAD
rs1255717832 CA402550707	876	V>A		No	ClinGen gnomAD
rs572394080 CA300876817	878	D>E		No	ClinGen Ensembl
CA402550596 rs1276567257	882	R>K		No	ClinGen gnomAD
rs767398921 VAR_036499 CA8974208	886	A>V	a breast cancer sample; somatic mutation [UniProt]	No	ClinGen UniProt ExAC dbSNP gnomAD
CA402550473 rs540027832	888	T>K		No	ClinGen TOPMed gnomAD
CA300876779 rs540027832	888	T>M		No	ClinGen TOPMed gnomAD
rs1333061056 CA402550409	891	I>V		No	ClinGen gnomAD
CA300876754 rs545885891	892	G>E		No	ClinGen Ensembl
CA10606098 rs886043906 RCV000278846	894	G>A		No	ClinGen ClinVar Ensembl dbSNP
CA8974203 rs769329072	894	G>R		No	ClinGen ExAC gnomAD
TCGA novel	895	A>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs776319141 CA8974201	898	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1185657094 CA402550129	900	M>V		No	ClinGen gnomAD
rs147888052 CA8974174	906	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA402548269 rs1243644073	908	V>A		No	ClinGen TOPMed
CA402548243 rs1252212247	910	I>V		No	ClinGen TOPMed
rs1437664519 CA402548175	912	G>R		No	ClinGen gnomAD
CA8974171 rs750646186	914	E>D		No	ClinGen ExAC gnomAD
rs367575213 CA8974169 RCV000731288	921	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP
TCGA novel	923	D>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8974166 rs145287364 RCV000731957	924	Y>C		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs1427564966 CA402547747	926	F>L		No	ClinGen gnomAD
rs571757448 CA8974165	926	F>S		No	ClinGen 1000Genomes ExAC gnomAD
rs753293981 CA8974164	927	A>V		No	ClinGen ExAC TOPMed gnomAD
rs765836791 CA8974163	928	Q>*		No	ClinGen ExAC gnomAD
CA402547697 rs1246041787	928	Q>R		No	ClinGen gnomAD
rs140407614 CA8974162	930	R>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA8974155 rs780145229	936	L>M		No	ClinGen ExAC TOPMed gnomAD
rs780145229 CA8974156	936	L>V		No	ClinGen ExAC TOPMed gnomAD
rs1440744675 CA402547403	937	L>P		No	ClinGen gnomAD
rs1344836118 CA402547353	939	H>R		No	ClinGen gnomAD
rs769809048 CA8974154	940	G>D		No	ClinGen ExAC gnomAD
CA8974153 rs374340059	941	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA8974152 rs187630495	941	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs187630495 CA8974151	941	R>Q	Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1599071924 CA402547291	943	S>A		No	ClinGen Ensembl
CA8974150 rs752429116	943	S>F		No	ClinGen ExAC gnomAD
CA8974148 rs754868983	945	I>T		No	ClinGen ExAC gnomAD
rs1399476858 CA402547140	947	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA8974147 rs753812875	948	C>F		No	ClinGen ExAC gnomAD
CA300873218 rs768242093	948	C>G		No	ClinGen Ensembl
rs368819544 CA300873202	951	L>R		No	ClinGen ESP TOPMed gnomAD
rs765889649 CA8974145 RCV000730680	952	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD
rs1485630412 CA402546880	956	Y>H		No	ClinGen gnomAD
TCGA novel	957	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	958	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs954752015 CA300873177	958	N>S		No	ClinGen Ensembl
CA402546582 rs1324824195	967	W>*		No	ClinGen TOPMed
rs373964610 CA300873166	969	S>A		No	ClinGen ESP TOPMed
rs774810322 CA8974139	969	S>Y		No	ClinGen ExAC gnomAD
TCGA novel	971	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8974138 rs769177228	972	N>S		No	ClinGen ExAC TOPMed gnomAD
CA8974136 rs775914304	974	Y>C		No	ClinGen ExAC gnomAD
rs770960393 CA8974113	978	T>A		No	ClinGen ExAC gnomAD
rs1415194509 CA402545386	980	Y>H		No	ClinGen gnomAD
CA402545374 rs1473104165	981	E>D		No	ClinGen gnomAD
CA402545357 rs1599070022	983	W>C		No	ClinGen Ensembl
rs1599070015 CA402545340	986	T>P		No	ClinGen Ensembl
CA402545325 rs1489730902	988	Y>C		No	ClinGen gnomAD
rs1175871600 CA402545327	988	Y>H		No	ClinGen gnomAD
CA8974110 rs768443626	989	N>D		No	ClinGen ExAC gnomAD
TCGA novel	992	Y>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1599069965 CA402545270	993	T>P		No	ClinGen Ensembl
CA402545257 rs1351792991	994	S>G		No	ClinGen TOPMed
TCGA novel	996	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1350129130 CA402545212	997	V>L		No	ClinGen TOPMed gnomAD
CA402545217 rs1350129130	997	V>M		No	ClinGen TOPMed gnomAD
rs1287448237 CA402545175	1000	M>T		No	ClinGen gnomAD
CA402545154 rs1192891814	1002	L>M		No	ClinGen TOPMed
CA402545137 rs1369569300	1003	L>H		No	ClinGen gnomAD
rs1568179600 CA402545123	1004	D>G		No	ClinGen Ensembl
CA402545131 rs1456966019	1004	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA8974105 rs780877927	1005	Q>K		No	ClinGen ExAC gnomAD
TCGA novel	1008	S>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1338034871 CA402544867	1011	L>R		No	ClinGen gnomAD
rs781213892 CA8974086	1014	R>*		No	ClinGen ExAC gnomAD
rs756828618 CA8974085	1014	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA300865567 rs144067642	1017	G>R		No	ClinGen ESP TOPMed
CA402544762 rs1254993533	1017	G>V		No	ClinGen TOPMed
CA402544729 rs199514707	1020	I>K		No	ClinGen ExAC TOPMed gnomAD
CA300865561 rs1007179629	1021	V>A		No	ClinGen TOPMed
rs1256318266 CA402544722	1021	V>M		No	ClinGen gnomAD
CA402544701 rs1346569718	1022	G>E		No	ClinGen gnomAD
rs1470427557 CA402544679	1024	R>G		No	ClinGen TOPMed
TCGA novel	1027	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1405639676 CA402544597	1028	F>L		No	ClinGen TOPMed
rs758030547 CA8974081	1029	N>D		No	ClinGen ExAC gnomAD
rs1400077329 CA402544549	1030	Y>C		No	ClinGen TOPMed
CA402544559 rs1228473372	1030	Y>H		No	ClinGen gnomAD
TCGA novel	1032	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA300865552 rs1040115205	1039	H>R		No	ClinGen Ensembl
rs1324887048 CA402544243	1044	S>*		No	ClinGen TOPMed
CA8974078 rs755313188	1045	M>I		No	ClinGen ExAC gnomAD
CA300865549 rs929863528	1045	M>T		No	ClinGen TOPMed
rs754347552 CA8974077	1046	I>M		No	ClinGen ExAC gnomAD
TCGA novel	1049	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1169856850 CA402544106	1050	I>K		No	ClinGen gnomAD
CA8974075 rs370876900	1051	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs370876900 CA8974074 RCV000732435	1051	P>T		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA402544059 rs139083067	1052	L>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs139083067 RCV000592233 CA8974073	1052	L>R		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs146782236 CA300865541	1054	A>G		No	ClinGen 1000Genomes TOPMed
TCGA novel	1054	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA300865542 rs886109835	1054	A>T		No	ClinGen Ensembl
CA402543996 rs146782236	1054	A>V		No	ClinGen 1000Genomes TOPMed
rs367988012 CA300865539	1055	Y>C		No	ClinGen ESP
rs761969261 CA8974071	1056	L>Q		No	ClinGen ExAC TOPMed gnomAD
CA402543961 rs1599067460	1057	Q>K		No	ClinGen Ensembl
RCV000728468 rs769485522 CA8974069	1059	V>I		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA402543920 rs1484601375	1060	G>R		No	ClinGen gnomAD
CA402543841 rs1205831351	1065	A>P		No	ClinGen gnomAD
CA8974066 rs771044045	1066	P>A		No	ClinGen ExAC gnomAD
rs746914580 CA8974065	1067	S>A		No	ClinGen ExAC gnomAD
CA300865532 rs146191639	1067	S>F		No	ClinGen ESP TOPMed gnomAD
CA300865527 rs991453254	1068	D>N		No	ClinGen TOPMed gnomAD
rs866362278 CA300865524	1070	Q>*		No	ClinGen Ensembl
TCGA novel	1071	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8974060 rs754583409	1074	V>I		No	ClinGen ExAC TOPMed gnomAD
CA8974058 rs183371188	1082	I>V		No	ClinGen 1000Genomes ExAC gnomAD
rs1196479004 CA402543499	1085	N>D		No	ClinGen TOPMed gnomAD
rs1472467052 CA402543492	1085	N>S		No	ClinGen Ensembl
CA8974041 rs75586146	1090	L>F		No	ClinGen ExAC gnomAD
rs1200968920 CA402543194	1091	D>G		No	ClinGen gnomAD
rs780425796 CA8974040	1092	T>I		No	ClinGen ExAC gnomAD
rs1232432620 CA402543120 RCV000732001	1093	S>F		No	ClinGen ClinVar TOPMed dbSNP
rs756419398 CA8974039	1094	Y>F		No	ClinGen ExAC gnomAD
rs79391613 CA8974037	1095	W>L		No	ClinGen ExAC gnomAD
CA8974035 rs751713854	1098	V>E		No	ClinGen ExAC gnomAD
rs757695758 CA8974036	1098	V>L		No	ClinGen ExAC gnomAD
rs1277087294 CA402542793	1102	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	1103	I>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs752920462 CA8974032	1103	I>T		No	ClinGen ExAC gnomAD
rs758728677 CA8974033	1103	I>V		No	ClinGen ExAC gnomAD
CA300865406 rs906084726	1104	F>S		No	ClinGen gnomAD
TCGA novel	1105	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs766292913 CA8974031	1105	G>R		No	ClinGen ExAC gnomAD
rs1568178477 CA402542692	1106	S>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA8974029 rs772879356	1108	A>T		No	ClinGen ExAC gnomAD
CA8974028 rs767548754	1108	A>V		No	ClinGen ExAC gnomAD
rs761633819 CA8974027	1114	M>T		No	ClinGen ExAC TOPMed gnomAD
CA402542415 rs1432901675	1117	F>L		No	ClinGen TOPMed
CA402542429 rs1251520257	1117	F>Y		No	ClinGen TOPMed
rs1044664913 CA300865390	1118	H>Q		No	ClinGen TOPMed
rs773951157 CA402542359	1120	A>S		No	ClinGen ExAC TOPMed gnomAD
rs773951157 CA8974026	1120	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1465906345 CA402542326	1121	G>V		No	ClinGen gnomAD
rs1555687548 CA402542304	1122	I>M		No	ClinGen Ensembl
TCGA novel	1122	I>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1599066497 CA402542262	1125	L>V		No	ClinGen Ensembl
rs374473129 CA8974024	1128	S>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1330108602 CA402541797	1128	S>Y		No	ClinGen gnomAD
rs772480482 CA300865375	1129	A>T		No	ClinGen Ensembl
CA300865374 rs569057021	1131	Q>R		No	ClinGen Ensembl
CA300864969 rs74414989 RCV000295604 CA10606199	1137	S>*		No	ClinGen ClinVar Ensembl dbSNP
rs561967151 CA8974012	1139	A>T		No	ClinGen 1000Genomes ExAC gnomAD
rs1212028067 CA402541715	1139	A>V		No	ClinGen TOPMed gnomAD
TCGA novel	1140	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA402541703 rs1485588341	1141	R>S		No	ClinGen gnomAD
rs1274716503 CA402541697	1142	Q>L		No	ClinGen TOPMed
CA8974011 rs150657346	1143	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA402541692 rs1230257033	1143	P>S		No	ClinGen TOPMed
rs750281258 CA8974010	1144	Y>C	Variant assessed as Somatic; 0.0003234 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs750281258 CA402541685	1144	Y>F		No	ClinGen ExAC TOPMed gnomAD
RCV000728571 CA402541688 rs1207988220	1144	Y>H		No	ClinGen ClinVar TOPMed dbSNP gnomAD
rs1453049562 CA402541681	1145	I>V		No	ClinGen TOPMed
rs977064032 CA300864951	1149	I>V		No	ClinGen TOPMed
CA402541643 rs1212888083	1150	I>T		No	ClinGen gnomAD
CA402541638 rs1285062874	1151	L>P		No	ClinGen gnomAD
CA8974008 rs761839764	1151	L>V		No	ClinGen ExAC gnomAD
rs222581 RCV000612103	1152	A>=		No	ClinVar dbSNP
rs222581 CA402541636	1152	A>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs222581 CA402541635	1152	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs222581 VAR_055045 CA8974007	1152	A>T		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA300864941 rs112600442	1154	A>G		No	ClinGen TOPMed
rs768445953 CA8974006	1154	A>S		No	ClinGen ExAC gnomAD
CA300864939 rs112600442	1154	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA402541615 rs1276044008	1155	V>A		No	ClinGen TOPMed gnomAD
CA8974005 rs377459678	1156	C>Y		No	ClinGen ESP ExAC TOPMed gnomAD
RCV000728642 rs745482154 CA8974002	1160	V>I		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1255793857 CA402541503	1161	V>A		No	ClinGen gnomAD
CA8973999 rs369054652	1164	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs778359776 CA8973998	1164	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA300864925 rs746761461	1165	F>I		No	ClinGen Ensembl
rs1599064200 CA402541403	1167	S>L		No	ClinGen Ensembl
rs1323647632 CA402541379	1168	M>I		No	ClinGen TOPMed gnomAD
rs1412283411 CA402541397	1168	M>V		No	ClinGen TOPMed
TCGA novel	1172	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1375321692 CA402541272	1174	E>Q		No	ClinGen gnomAD
VAR_036500	1178	I>M	a breast cancer sample; somatic mutation [UniProt]	No	UniProt
rs367826540 CA8973974	1178	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1337207936 CA402540482	1180	K>R		No	ClinGen TOPMed
rs1452732004 CA402540458	1181	H>R		No	ClinGen gnomAD
CA402540441 rs756352931	1182	R>C		No	ClinGen ExAC gnomAD
CA8973973 rs756352931	1182	R>G		No	ClinGen ExAC gnomAD
CA300864283 rs1004713619	1182	R>H		No	ClinGen TOPMed
CA402540389 rs1205996426	1184	R>W		No	ClinGen gnomAD
CA402540362 rs1213395966	1185	L>F		No	ClinGen gnomAD
CA402540367 rs1259892460	1185	L>W		No	ClinGen gnomAD
rs1349895511 CA402540321	1187	A>E		No	ClinGen TOPMed gnomAD
CA402540319 rs1349895511	1187	A>V		No	ClinGen TOPMed gnomAD
CA402540298 rs1232918158	1189	E>K		No	ClinGen TOPMed gnomAD
CA402540295 rs1232918158	1189	E>Q		No	ClinGen TOPMed gnomAD
rs1599061182 CA402540257	1190	Q>R		No	ClinGen Ensembl
CA8973970 rs758366918	1191	W>L		No	ClinGen ExAC gnomAD
CA8973968 rs758906628	1193	R>L		No	ClinGen ExAC gnomAD
rs758906628 CA8973967	1193	R>P		No	ClinGen ExAC gnomAD
CA402540173 rs1287415755	1194	R>L		No	ClinGen TOPMed gnomAD
CA402540178 rs1287415755	1194	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs753385239 CA8973966	1194	R>W		No	ClinGen ExAC gnomAD
rs562253301 CA8973965	1195	Q>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA402540131 rs1245424563	1196	Q>H		No	ClinGen TOPMed
rs1376578283 CA402540122 CA402540125 RCV000595604	1197	V>L		No	ClinGen TOPMed gnomAD ClinVar dbSNP
CA402540124 rs1376578283	1197	V>M		No	ClinGen TOPMed gnomAD
CA300864265 rs760353602	1199	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA8973963 rs543858152	1199	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8973964 rs760353602	1199	R>S		No	ClinGen ExAC gnomAD
CA8973962 rs767953266	1200	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA8973961 rs762431713	1201	G>A		No	ClinGen ExAC gnomAD
CA402540058 rs1166270085	1201	G>S		No	ClinGen TOPMed
RCV000350191 CA10606064 rs886043876	1202	V>A		No	ClinGen ClinVar TOPMed dbSNP gnomAD
rs1259936345 CA402540039	1202	V>M		No	ClinGen gnomAD
CA8973960 rs148152852	1203	S>L		No	ClinGen ESP ExAC gnomAD
rs768785533 CA402539992	1204	T>M		No	ClinGen ExAC TOPMed gnomAD
rs768785533 CA8973959	1204	T>R		No	ClinGen ExAC TOPMed gnomAD
rs1345665554 CA402539964	1206	R>H		No	ClinGen gnomAD
CA8973956 rs775623614	1208	A>V		No	ClinGen ExAC gnomAD
rs746056286 CA402539852	1211	F>L		No	ClinGen ExAC gnomAD
CA402539753 rs1267956118	1215	R>Q		No	ClinGen TOPMed
rs201877094 CA300864221	1215	R>W		No	ClinGen 1000Genomes TOPMed gnomAD
TCGA novel	1218	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs765883074 CA8973946	1219	D>G		No	ClinGen ExAC TOPMed gnomAD
rs753339861 CA8973947	1219	D>H		No	ClinGen ExAC TOPMed gnomAD
CA8973948 rs753339861 RCV000420419	1219	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs1321795480 CA402539663	1220	L>V		No	ClinGen TOPMed
rs768004671 CA8973943	1224	G>R		No	ClinGen ExAC gnomAD
rs1568176564 RCV000730679	1225	R>missing		No	ClinVar dbSNP
CA8973940 rs201815651	1225	R>H		No	ClinGen 1000Genomes ExAC gnomAD
rs1317736878 CA402539549	1226	S>G		No	ClinGen gnomAD
CA300864191 rs1038484648	1227	I>M		No	ClinGen Ensembl
rs371785570 CA8973938 RCV000731412	1228	R>C		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs371785570 CA8973937	1228	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs147060096 CA8973936	1228	R>H		No	ClinGen ESP ExAC gnomAD
CA8973935 rs147060096	1228	R>L		No	ClinGen ESP ExAC gnomAD
rs771140525 CA8973934	1230	K>Q		No	ClinGen ExAC gnomAD
CA402539437 rs1413340065	1231	R>L		No	ClinGen TOPMed gnomAD
rs1413340065 CA402539440	1231	R>P		No	ClinGen TOPMed gnomAD
rs778749552 CA8973933	1232	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs778749552 CA8973932	1232	S>W		No	ClinGen ExAC TOPMed gnomAD
CA8973930 rs749210750	1233	P>L		No	ClinGen ExAC gnomAD
rs1390864114 CA402539420	1233	P>T		No	ClinGen gnomAD
rs1462124064 CA402539396	1235	D>G		No	ClinGen gnomAD
CA8973928 rs573510317	1236	A>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8973927 rs573510317	1236	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1402442966 CA402539377	1237	I>T		No	ClinGen TOPMed
CA300864167 rs1053938391	1238	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA8973926 rs767343941	1239	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs139012426 CA402539327	1242	T>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
RCV000384110 rs139012426 CA8973924	1242	T>S		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs146405857 CA300864156	1243	A>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs764485724 CA8973922	1243	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1231845375 CA402539310	1244	E>G		No	ClinGen gnomAD
CA300864147 rs945318537	1245	Y>C		No	ClinGen TOPMed gnomAD
rs1599060560 CA402539294	1245	Y>D		No	ClinGen Ensembl
CA300864144 rs915242210	1246	R>G		No	ClinGen TOPMed gnomAD
rs1327927754 CA402539260	1247	R>H		No	ClinGen gnomAD
rs1224865178 CA402539243	1248	T>N		No	ClinGen TOPMed
rs575368517 CA8973918	1249	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1471046798 CA402539209	1250	D>E		No	ClinGen TOPMed
CA402539214 rs1364091457	1250	D>G		No	ClinGen TOPMed
CA402539223 rs1411013917	1250	D>N		No	ClinGen gnomAD
rs1156692126 CA402539200	1251	S>C		No	ClinGen TOPMed

3 associated diseases with O43520

[MIM: 211600]: Cholestasis, progressive familial intrahepatic, 1 (PFIC1)

A disorder characterized by early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease before adulthood. PFIC1 inheritance is autosomal recessive. {ECO:0000269|PubMed:11093741, ECO:0000269|PubMed:15239083, ECO:0000269|PubMed:19731236, ECO:0000269|PubMed:20038848, ECO:0000269|PubMed:23197899, ECO:0000269|PubMed:25315773, ECO:0000269|PubMed:9500542}. Note=The disease is caused by variants affecting the gene represented in this entry.

[MIM: 243300]: Cholestasis, benign recurrent intrahepatic, 1 (BRIC1)

A disorder characterized by intermittent episodes of cholestasis without progression to liver failure. There is initial elevation of serum bile acids, followed by cholestatic jaundice which generally spontaneously resolves after periods of weeks to months. The cholestatic attacks vary in severity and duration. Patients are asymptomatic between episodes, both clinically and biochemically. {ECO:0000269|PubMed:15239083, ECO:0000269|PubMed:19731236, ECO:0000269|PubMed:25315773, ECO:0000269|PubMed:9500542, ECO:0000269|PubMed:9918928}. Note=The disease is caused by variants affecting the gene represented in this entry.

[MIM: 147480]: Cholestasis of pregnancy, intrahepatic 1 (ICP1)

A liver disorder of pregnancy. It presents during the second or, more commonly, the third trimester of pregnancy with intense pruritus which becomes more severe with advancing gestation and cholestasis. Cholestasis results from abnormal biliary transport from the liver into the small intestine. ICP1 causes fetal distress, spontaneous premature delivery and intrauterine death. ICP1 patients have spontaneous and progressive disappearance of cholestasis after delivery. {ECO:0000269|PubMed:15657619, ECO:0000269|PubMed:15888793, ECO:0000269|PubMed:19731236}. Note=The disease may be caused by variants affecting the gene represented in this entry.

Without disease ID

A disorder characterized by early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease before adulthood. PFIC1 inheritance is autosomal recessive. {ECO:0000269|PubMed:11093741, ECO:0000269|PubMed:15239083, ECO:0000269|PubMed:19731236, ECO:0000269|PubMed:20038848, ECO:0000269|PubMed:23197899, ECO:0000269|PubMed:25315773, ECO:0000269|PubMed:9500542}. Note=The disease is caused by variants affecting the gene represented in this entry.
A disorder characterized by intermittent episodes of cholestasis without progression to liver failure. There is initial elevation of serum bile acids, followed by cholestatic jaundice which generally spontaneously resolves after periods of weeks to months. The cholestatic attacks vary in severity and duration. Patients are asymptomatic between episodes, both clinically and biochemically. {ECO:0000269|PubMed:15239083, ECO:0000269|PubMed:19731236, ECO:0000269|PubMed:25315773, ECO:0000269|PubMed:9500542, ECO:0000269|PubMed:9918928}. Note=The disease is caused by variants affecting the gene represented in this entry.
A liver disorder of pregnancy. It presents during the second or, more commonly, the third trimester of pregnancy with intense pruritus which becomes more severe with advancing gestation and cholestasis. Cholestasis results from abnormal biliary transport from the liver into the small intestine. ICP1 causes fetal distress, spontaneous premature delivery and intrauterine death. ICP1 patients have spontaneous and progressive disappearance of cholestasis after delivery. {ECO:0000269|PubMed:15657619, ECO:0000269|PubMed:15888793, ECO:0000269|PubMed:19731236}. Note=The disease may be caused by variants affecting the gene represented in this entry.

4 regional properties for O43520

Type	Name	Position	InterPro Accession
ptm	P-type ATPase, phosphorylation site	454 - 460	IPR018303
domain	P-type ATPase, C-terminal	919 - 1173	IPR032630
domain	P-type ATPase, N-terminal	66 - 145	IPR032631
domain	P-type ATPase, haloacid dehalogenase domain	436 - 942	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 Apical cell membrane Cell projection, stereocilium Endoplasmic reticulum Golgi apparatus	Exit from the endoplasmic reticulum requires the presence of TMEM30A or TMEM30B (PubMed:20947505) Localizes to apical membranes in epithelial cells (PubMed:20512993)
PANTHER Family	PTHR24092	PROBABLE PHOSPHOLIPID-TRANSPORTING ATPASE
PANTHER Subfamily	PTHR24092:SF48	PHOSPHOLIPID-TRANSPORTING ATPASE IC
PANTHER Protein Class	primary active transporter transporter
PANTHER Pathway Category	No pathway information available

11 GO annotations of cellular component

Name	Definition
apical plasma membrane	The region of the plasma membrane located at the apical end of the cell.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
endoplasmic reticulum	The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached).
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.
nuclear body	Extra-nucleolar nuclear domains usually visualized by confocal microscopy and fluorescent antibodies to specific proteins.
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.
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.
stereocilium	An actin-based protrusion from the apical surface of auditory and vestibular hair cells and of neuromast cells. These protrusions are supported by a bundle of cross-linked actin filaments (an actin cable), oriented such that the plus (barbed) ends are at the tip of the protrusion, capped by a tip complex which bridges to the plasma. Bundles of stereocilia act as mechanosensory organelles.
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.

9 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.
cardiolipin binding	Binding to cardiolipin.
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.
phosphatidylserine flippase activity	Catalysis of the movement of phosphatidylserine from the exoplasmic to the cytosolic leaftlet of a membrane, using energy from the hydrolysis of ATP.
phosphatidylserine floppase activity	Catalysis of the movement of phosphatidylserine from the cytosolic to the exoplasmic leaftlet of a membrane, using energy from the hydrolysis of ATP.

14 GO annotations of biological process

Name	Definition
apical protein localization	Any process in which a protein is transported to, or maintained in, apical regions of the cell.
bile acid and bile salt transport	The directed movement of bile acid and bile salts into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.
bile acid metabolic process	The chemical reactions and pathways involving bile acids, a group of steroid carboxylic acids occurring in bile, where they are present as the sodium salts of their amides with glycine or taurine.
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.
inner ear receptor cell development	The process whose specific outcome is the progression of an inner ear receptor cell over time, from its formation to the mature structure. Cell development does not include the steps involved in committing a cell to a specific fate.
ion transmembrane transport	A process in which an ion is transported across a membrane.
negative regulation of DNA-templated transcription	Any process that stops, prevents, or reduces the frequency, rate or extent of cellular DNA-templated transcription.
phospholipid translocation	The movement of a phospholipid molecule from one leaflet of a membrane bilayer to the opposite leaflet.
regulation of chloride transport	Any process that modulates the frequency, rate or extent of chloride transport.
regulation of microvillus assembly	A process that modulates the formation of a microvillus.
regulation of plasma membrane organization	Any process that modulates the frequency, rate or extent of plasma membrane organization.
sensory perception of sound	The series of events required for an organism to receive an auditory stimulus, convert it to a molecular signal, and recognize and characterize the signal. Sonic stimuli are detected in the form of vibrations and are processed to form a sound.
vestibulocochlear nerve formation	The process that gives rise to the vestibulocochlear nerve. This process pertains to the initial formation of a structure from unspecified parts. This sensory nerve innervates the membranous labyrinth of the inner ear. The vestibular branch innervates the vestibular apparatus that senses head position changes relative to gravity. The auditory branch innervates the cochlear duct, which is connected to the three bony ossicles which transduce sound waves into fluid movement in the cochlea.
xenobiotic transmembrane transport	The process in which a xenobiotic, a compound foreign to the organim exposed to it, is transported across a membrane. It may be synthesized by another organism (like ampicilin) or it can be a synthetic chemical.

11 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q8TF62	ATP8B4	Probable phospholipid-transporting ATPase IM	Homo sapiens (Human)	PR
P98198	ATP8B2	Phospholipid-transporting ATPase ID	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
P70704	Atp8a1	Phospholipid-transporting ATPase IA	Mus musculus (Mouse)	PR
P98199	Atp8b2	Phospholipid-transporting ATPase ID	Mus musculus (Mouse)	PR
Q148W0	Atp8b1	Phospholipid-transporting ATPase IC	Mus musculus (Mouse)	SS
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
MSTERDSETT	FDEDSQPNDE	VVPYSDDETE	DELDDQGSAV	EPEQNRVNRE	AEENREPFRK
70	80	90	100	110	120
ECTWQVKAND	RKYHEQPHFM	NTKFLCIKES	KYANNAIKTY	KYNAFTFIPM	NLFEQFKRAA
130	140	150	160	170	180
NLYFLALLIL	QAVPQISTLA	WYTTLVPLLV	VLGVTAIKDL	VDDVARHKMD	KEINNRTCEV
190	200	210	220	230	240
IKDGRFKVAK	WKEIQVGDVI	RLKKNDFVPA	DILLLSSSEP	NSLCYVETAE	LDGETNLKFK
250	260	270	280	290	300
MSLEITDQYL	QREDTLATFD	GFIECEEPNN	RLDKFTGTLF	WRNTSFPLDA	DKILLRGCVI
310	320	330	340	350	360
RNTDFCHGLV	IFAGADTKIM	KNSGKTRFKR	TKIDYLMNYM	VYTIFVVLIL	LSAGLAIGHA
370	380	390	400	410	420
YWEAQVGNSS	WYLYDGEDDT	PSYRGFLIFW	GYIIVLNTMV	PISLYVSVEV	IRLGQSHFIN
430	440	450	460	470	480
WDLQMYYAEK	DTPAKARTTT	LNEQLGQIHY	IFSDKTGTLT	QNIMTFKKCC	INGQIYGDHR
490	500	510	520	530	540
DASQHNHNKI	EQVDFSWNTY	ADGKLAFYDH	YLIEQIQSGK	EPEVRQFFFL	LAVCHTVMVD
550	560	570	580	590	600
RTDGQLNYQA	ASPDEGALVN	AARNFGFAFL	ARTQNTITIS	ELGTERTYNV	LAILDFNSDR
610	620	630	640	650	660
KRMSIIVRTP	EGNIKLYCKG	ADTVIYERLH	RMNPTKQETQ	DALDIFANET	LRTLCLCYKE
670	680	690	700	710	720
IEEKEFTEWN	KKFMAASVAS	TNRDEALDKV	YEEIEKDLIL	LGATAIEDKL	QDGVPETISK
730	740	750	760	770	780
LAKADIKIWV	LTGDKKETAE	NIGFACELLT	EDTTICYGED	INSLLHARME	NQRNRGGVYA
790	800	810	820	830	840
KFAPPVQESF	FPPGGNRALI	ITGSWLNEIL	LEKKTKRNKI	LKLKFPRTEE	ERRMRTQSKR
850	860	870	880	890	900
RLEAKKEQRQ	KNFVDLACEC	SAVICCRVTP	KQKAMVVDLV	KRYKKAITLA	IGDGANDVNM
910	920	930	940	950	960
IKTAHIGVGI	SGQEGMQAVM	SSDYSFAQFR	YLQRLLLVHG	RWSYIRMCKF	LRYFFYKNFA
970	980	990	1000	1010	1020
FTLVHFWYSF	FNGYSAQTAY	EDWFITLYNV	LYTSLPVLLM	GLLDQDVSDK	LSLRFPGLYI
1030	1040	1050	1060	1070	1080
VGQRDLLFNY	KRFFVSLLHG	VLTSMILFFI	PLGAYLQTVG	QDGEAPSDYQ	SFAVTIASAL
1090	1100	1110	1120	1130	1140
VITVNFQIGL	DTSYWTFVNA	FSIFGSIALY	FGIMFDFHSA	GIHVLFPSAF	QFTGTASNAL
1150	1160	1170	1180	1190	1200
RQPYIWLTII	LAVAVCLLPV	VAIRFLSMTI	WPSESDKIQK	HRKRLKAEEQ	WQRRQQVFRR
1210	1220	1230	1240	1250
GVSTRRSAYA	FSHQRGYADL	ISSGRSIRKK	RSPLDAIVAD	GTAEYRRTGD	S