AiPD: Autoinhibited Protein Database

Q8IVL5

Gene name	P3H2
Protein name	Prolyl 3-hydroxylase 2
Names	Leprecan-like protein 1, Myxoid liposarcoma-associated protein 4
Species	Homo sapiens (Human)
KEGG Pathway	hsa:55214
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

49-129 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

49-129 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

Yeon JH et al. (2016) "Systems-wide Identification of cis-Regulatory Elements in Proteins", Cell Systems, 2, 89-100

Autoinhibited structure

Activated structure

1 structures for Q8IVL5

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q8IVL5-F1	Predicted				AlphaFoldDB

753 variants for Q8IVL5

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV002543816 CA90197227 rs902467937 RCV001321046	67	L>S	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV001317724 CA355859876 RCV003166830 rs947578248	82	T>M	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
CA2753403 RCV002553091 rs772939460 RCV001043009	89	A>G	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs875989838 RCV000210936 RCV001853395	100	G>missing	Myopia, high, with cataract and vitreoretinal degeneration [ClinVar]	Yes	ClinVar dbSNP
CA2753365 rs369467078 RCV001341599 RCV002546936	156	R>P	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ESP ExAC dbSNP gnomAD
RCV002543077 CA2753316 RCV001299787 rs181536548	176	V>M	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV001518824 RCV000660490 CA2753308 rs117688924	185	Q>H	Myopia, high, with cataract and vitreoretinal degeneration [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA175051 RCV000149825 rs724160006	186	Q>*	Myopia, high, with cataract and vitreoretinal degeneration [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1408355931 CA355759559 RCV000787019	227	E>*	Myopia, high, with cataract and vitreoretinal degeneration [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
CA2753127 RCV001228414 rs570975925 RCV002563701	355	D>G	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs377600857 RCV001003107 RCV001809893 RCV002549200 CA2753027	405	R>*	Retinitis pigmentosa Myopia, high, with cataract and vitreoretinal degeneration Variant assessed as Somatic; 4.636e-05 impact. [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs367945801 RCV001042269 RCV002553085 CA2752992	427	M>T	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001043627 RCV002552530 rs895635914	458	Q>K	Inborn genetic diseases [ClinVar]	Yes	ClinVar dbSNP
rs754396355 RCV002546933 RCV001341483 CA2752927	482	V>M	Variant assessed as Somatic; 0.0 impact. Inborn genetic diseases [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV002564081 CA2752893 RCV001244019 rs745408174	503	N>K	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs724159988 CA129486 RCV000023807 VAR_066637	508	G>V	Myopia, high, with cataract and vitreoretinal degeneration MCVD; loss of function [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt TOPMed dbSNP
CA2752838 RCV002562605 RCV001225798 rs150499475	529	R>C	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV002543060 RCV001297641 CA2752837 rs141691712	529	R>H	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs777835320 CA2752746 RCV001203331 RCV002561126	619	E>K	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
CA90197245 rs1037878355	2	R>G		No	ClinGen TOPMed gnomAD
rs761595945 CA2753459	2	R>Q		No	ClinGen ExAC gnomAD
rs1037878355 CA90197244 RCV001312432	2	R>W		No	ClinGen ClinVar TOPMed dbSNP gnomAD
rs917355513 CA90197243	3	E>K		No	ClinGen Ensembl
CA90197242 RCV001043938 rs539514733	4	R>H		No	ClinGen ClinVar 1000Genomes TOPMed dbSNP gnomAD
rs1281423390 CA355860343	4	R>S		No	ClinGen TOPMed
CA355860320 rs1223525571	7	A>T		No	ClinGen TOPMed
CA355860317 rs1315055309	7	A>V		No	ClinGen gnomAD
rs1380005051 CA355860312	8	P>L		No	ClinGen gnomAD
CA355860313 rs1380005051	8	P>R		No	ClinGen gnomAD
CA2753457 rs768562190 RCV001303212	8	P>S		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1310957916 CA355860307 RCV001228090	9	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ClinVar NCI-TCGA dbSNP gnomAD
rs774895793 RCV001044907 CA2753455	10	L>P		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1395448072 CA355860304	10	L>V		No	ClinGen TOPMed gnomAD
rs1577335003 CA355860301	11	L>M		No	ClinGen Ensembl
rs771544323 CA2753454 RCV001325348	11	L>P		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1444060847 CA355860289	13	L>P		No	ClinGen gnomAD
rs747386020 RCV001238305	13	L>missing		No	ClinVar dbSNP
RCV001064164 rs748164416	13	L>missing		No	ClinVar dbSNP
rs748164416 RCV001305708	13	L>missing		No	ClinVar dbSNP
rs748164416 RCV001226892	14	L>missing		No	ClinVar dbSNP
rs1553783823 RCV001205805	14	L>missing		No	ClinVar dbSNP
rs778614714 CA2753452	14	L>P	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1331153955 CA355860279	15	P>R		No	ClinGen TOPMed
CA355860281 rs1180697514	15	P>T		No	ClinGen TOPMed gnomAD
CA2753448 rs757762447	16	L>P		No	ClinGen ExAC TOPMed gnomAD
CA355860270 rs1285143964	17	L>P		No	ClinGen TOPMed
CA355860272 rs1442023913	17	L>V		No	ClinGen TOPMed
CA355860249 rs1356594759	21	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1239246279 CA355860242	22	L>P		No	ClinGen TOPMed gnomAD
rs1239246279 CA355860241	22	L>R		No	ClinGen TOPMed gnomAD
CA355860228 rs1304508760	24	G>D		No	ClinGen gnomAD
rs1384479798 CA355860222	25	G>D		No	ClinGen TOPMed
RCV001221980 CA2753443 rs756708326	26	P>A		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA2753441 rs767495929	27	P>R		No	ClinGen ExAC gnomAD
rs1335021932 CA355860212	27	P>S		No	ClinGen TOPMed
RCV001211380 rs1712534770	28	D>E		No	ClinVar dbSNP
rs751800036 CA355860209	28	D>N		No	ClinGen ExAC TOPMed gnomAD
RCV001243086 rs1712535060	28	D>Y		No	ClinVar dbSNP
rs751800036 CA2753439	28	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA355860191 rs1454438631	30	P>R		No	ClinGen gnomAD
rs1712534323 RCV001318092	31	R>C		No	ClinVar dbSNP
rs761648961 CA2753437	32	R>W		No	ClinGen ExAC TOPMed gnomAD
RCV001069961 rs780437634	32	R>missing		No	ClinVar dbSNP
CA355860172 rs1435247695	33	E>D		No	ClinGen gnomAD
rs1209445067 CA355860164	35	E>K		No	ClinGen gnomAD
CA2753433 rs550784725 CA90197234	37	E>D		No	ClinGen 1000Genomes ExAC gnomAD
CA2753434 rs763838283	37	E>G		No	ClinGen ExAC gnomAD
rs1205205241 CA355860147	38	P>S		No	ClinGen gnomAD
CA355860137 rs1258556613	39	G>A		No	ClinGen TOPMed gnomAD
rs1258556613 CA355860136	39	G>E		No	ClinGen TOPMed gnomAD
rs1263333334 CA355860140	39	G>R		No	ClinGen TOPMed
rs775441432 CA90197233	42	Q>H		No	ClinGen ExAC gnomAD
CA355860112 rs1181500647	43	P>L		No	ClinGen TOPMed
RCV001057112 CA2753426 rs367659257	44	F>L		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs530871257 CA90197232	44	F>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2753427 rs530871257	44	F>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs878885298 CA90197231	45	D>H		No	ClinGen Ensembl
rs1384400428 CA355860098	46	L>M		No	ClinGen TOPMed gnomAD
CA355860099 rs1384400428	46	L>V		No	ClinGen TOPMed gnomAD
rs1430348686 CA355860083	48	Y>S		No	ClinGen gnomAD
CA2753422 rs778310746	49	A>S		No	ClinGen ExAC TOPMed gnomAD
CA355860076 rs1479700851	49	A>V		No	ClinGen TOPMed gnomAD
rs1226484888 CA355860075	50	S>R		No	ClinGen gnomAD
CA90197230 rs865964864	52	A>S		No	ClinGen gnomAD
rs865964864 CA355860061	52	A>T		No	ClinGen gnomAD
CA2753418 rs781722601	54	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1461499291 CA355860046	54	A>V		No	ClinGen gnomAD
rs1262199808 CA355860044	55	Y>H		No	ClinGen gnomAD
rs199683261 CA90197229	56	Y>*		No	ClinGen 1000Genomes
CA2753417 rs755056740	56	Y>C		No	ClinGen ExAC gnomAD
rs751640063 CA2753416	57	S>I		No	ClinGen ExAC TOPMed gnomAD
CA355860027 rs751640063	57	S>N		No	ClinGen ExAC TOPMed gnomAD
rs1270664458 CA355860030	57	S>R		No	ClinGen TOPMed gnomAD
rs751640063 CA355860028	57	S>T		No	ClinGen ExAC TOPMed gnomAD
rs1454723518 CA355860022	58	G>E		No	ClinGen gnomAD
CA355860024 CA2753414 rs758652639	58	G>R		No	ClinGen ExAC TOPMed gnomAD
CA355860018 rs1407111891	59	D>H		No	ClinGen TOPMed gnomAD
CA355860019 rs1407111891	59	D>N		No	ClinGen TOPMed gnomAD
rs1407111891 CA355860017	59	D>Y		No	ClinGen TOPMed gnomAD
CA2753412 rs763891313	61	E>*		No	ClinGen ExAC TOPMed gnomAD
CA2753413 RCV001308409 rs763891313	61	E>Q		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA355859994 rs1422138816	62	R>P		No	ClinGen TOPMed gnomAD
rs1168953051 CA355859987	63	A>V		No	ClinGen gnomAD
CA355859985 rs1486034406	64	V>L		No	ClinGen TOPMed
rs1189022356 CA355859968	66	D>E		No	ClinGen TOPMed gnomAD
rs767583092 RCV001341923	66	D>missing		No	ClinVar dbSNP
rs752644553 RCV001301032 CA2753410	66	D>N		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA90197228 rs1005045570	67	L>V		No	ClinGen TOPMed
rs1201439363 CA355859958 RCV001202288	68	E>G		No	ClinGen ClinVar TOPMed dbSNP gnomAD
rs759015600 CA2753408 RCV001304791	69	A>V		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA90197225 rs990627880	71	L>R		No	ClinGen gnomAD
rs937420511 CA90197224	72	R>C		No	ClinGen TOPMed
CA90197223 CA355859920 rs774018969	74	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA355859917 rs920663372	75	R>P		No	ClinGen TOPMed gnomAD
CA90197222 rs920663372	75	R>Q		No	ClinGen TOPMed gnomAD
rs1248249189 CA355859919	75	R>W		No	ClinGen TOPMed gnomAD
CA355859912 rs1314597019	76	R>H		No	ClinGen gnomAD
rs962065723 CA90197220	79	E>K		No	ClinGen TOPMed gnomAD
rs907835399 CA355859886	80	I>M		No	ClinGen TOPMed gnomAD
CA355859889 rs1329982930	80	I>S		No	ClinGen TOPMed gnomAD
rs1394960957 CA355859883	81	R>C		No	ClinGen gnomAD
rs947578248 CA90197217	82	T>R		No	ClinGen TOPMed gnomAD
CA355859872 rs1424716736	83	R>C		No	ClinGen gnomAD
CA355859871 rs1577334628	83	R>H		No	ClinGen Ensembl
rs1577334623 CA355859863	84	C>F		No	ClinGen Ensembl
rs1712516809 RCV001240303	84	C>S		No	ClinVar dbSNP
rs914760113 CA90197216	85	A>P		No	ClinGen TOPMed gnomAD
CA355859860 rs914760113	85	A>T		No	ClinGen TOPMed gnomAD
CA355859854 rs1181319830	86	R>G		No	ClinGen TOPMed gnomAD
CA2753405 rs770522765	86	R>L		No	ClinGen ExAC gnomAD
RCV001305585 rs1181319830 CA355859855	86	R>S		No	ClinGen ClinVar TOPMed dbSNP gnomAD
CA2753404 rs762696516	87	H>L		No	ClinGen ExAC gnomAD
rs1180819676 CA355859845 CA355859844	87	H>Q		No	ClinGen TOPMed gnomAD
CA355859831 rs772939460	89	A>E		No	ClinGen ExAC TOPMed gnomAD
rs1187875003 CA355859835 RCV001301427	89	A>T		No	ClinGen ClinVar TOPMed dbSNP gnomAD
CA355859826 rs1291914667	90	A>G		No	ClinGen gnomAD
CA355859808 rs1360200281	93	P>Q		No	ClinGen gnomAD
CA2753402 rs770110675	93	P>T		No	ClinGen ExAC gnomAD
rs1291155654 CA355859795	95	P>L		No	ClinGen gnomAD
rs1291155654 CA355859794	95	P>Q		No	ClinGen gnomAD
CA355859791 RCV001230209 rs1375801184	96	P>S		No	ClinGen ClinVar TOPMed dbSNP gnomAD
rs1280425420 CA355859784	97	P>R		No	ClinGen gnomAD
CA90197215 rs1029131656	98	P>H		No	ClinGen gnomAD
CA355859778 rs1029131656	98	P>L		No	ClinGen gnomAD
rs751349719 RCV001037094	98	P>missing		No	ClinVar dbSNP
rs781602973 CA2753399	98	P>S		No	ClinGen ExAC gnomAD
CA355859774 rs1425871886	99	P>H		No	ClinGen gnomAD
CA355859772 rs1425871886	99	P>L		No	ClinGen gnomAD
CA90197213 rs957807794	100	G>S		No	ClinGen Ensembl
CA355859755 rs1402008311	102	G>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA90197212 rs767271052	103	P>L		No	ClinGen Ensembl
CA355859744 rs1251651822	104	G>V		No	ClinGen gnomAD
RCV001048006 rs200308609 CA2753394	105	A>S		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA2753393 rs200308609	105	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs779102577 CA90197211	107	L>V		No	ClinGen ExAC TOPMed gnomAD
rs1268183770 RCV001315339	108	P>S		No	ClinVar dbSNP
CA355859725 rs1268183770	108	P>T		No	ClinGen gnomAD
CA355859719 rs1560026744	109	L>F		No	ClinGen Ensembl
CA90197208 rs902184572	110	F>L		No	ClinGen Ensembl
rs1285189299 CA355859706	111	R>C		No	ClinGen gnomAD
CA355859701 rs1223469732	111	R>L		No	ClinGen TOPMed gnomAD
RCV001064723 CA90197207 rs1016510829	112	S>C		No	ClinGen ClinVar TOPMed dbSNP gnomAD
CA355859686 rs1406018579	114	L>*		No	ClinGen gnomAD
rs201236004 CA355859687	114	L>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA355859681 rs1453031452	115	G>R		No	ClinGen TOPMed
TCGA novel	116	R>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA355859674 rs1345433133	116	R>W		No	ClinGen gnomAD
rs1301901860 CA355859665	117	A>V		No	ClinGen gnomAD
CA355859662 rs1432266594	118	R>C		No	ClinGen gnomAD
rs1345315184 CA355859661	118	R>H		No	ClinGen gnomAD
CA355859655 rs1431078969	119	C>S		No	ClinGen gnomAD
CA2753388 rs759546991	119	C>S		No	ClinGen ExAC TOPMed gnomAD
rs1427096247 CA355859643	121	R>C		No	ClinGen TOPMed gnomAD
CA355859641 rs1427096247	121	R>S		No	ClinGen TOPMed gnomAD
rs1486871614 CA355859635	122	S>C		No	ClinGen gnomAD
rs1577334455 CA355859622	123	C>W		No	ClinGen Ensembl
rs1242808363 CA355859624	123	C>Y		No	ClinGen gnomAD
rs1215260525 CA355859608	125	T>N		No	ClinGen gnomAD
RCV001206979 rs1265306168 CA355859605	126	Q>*		No	ClinGen ClinVar dbSNP gnomAD
CA2753385 rs564380677	126	Q>L		No	ClinGen 1000Genomes ExAC
rs74992786 CA2753384	127	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
RCV001228092 rs1712502703	128	L>R		No	ClinVar dbSNP
rs761326963 CA2753382	129	G>A		No	ClinGen ExAC TOPMed gnomAD
CA355859589 RCV001239498 CA355859588 rs200731219	129	G>R		No	ClinGen ESP ExAC TOPMed gnomAD ClinVar dbSNP
CA355859586 rs761326963	129	G>V		No	ClinGen ExAC TOPMed gnomAD
RCV001056708 CA2753383 rs200731219	129	G>W		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs1407835308 CA355859582	130	G>D		No	ClinGen gnomAD
CA355859585 rs1428128931	130	G>S		No	ClinGen gnomAD
rs1407835308 CA355859580	130	G>V		No	ClinGen gnomAD
CA2753381 rs777087919	131	P>A		No	ClinGen ExAC TOPMed gnomAD
CA355859578 rs777087919	131	P>S		No	ClinGen ExAC TOPMed gnomAD
rs768837581 RCV001038675 CA2753380	132	A>P		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs747528883 CA2753379	132	A>V		No	ClinGen ExAC TOPMed gnomAD
CA2753378 rs780526119	134	R>C		No	ClinGen ExAC TOPMed gnomAD
CA355859555 rs1420233850	135	H>P		No	ClinGen gnomAD
rs1447798311 CA355859549	136	R>C		No	ClinGen gnomAD
rs1447798311 CA355859551	136	R>S		No	ClinGen gnomAD
CA355859541 rs1245178339	137	V>A		No	ClinGen gnomAD
CA355859539 rs1204596102	138	S>G		No	ClinGen TOPMed gnomAD
rs1204596102 CA355859537	138	S>R		No	ClinGen TOPMed gnomAD
CA2753377 rs375401060	138	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA90197203 rs1044645217	141	V>L		No	ClinGen TOPMed gnomAD
rs1044645217 CA355859516	141	V>M		No	ClinGen TOPMed gnomAD
CA2753375 rs779154063	142	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1418603067 CA355859505 RCV001054672	143	S>G		No	ClinGen ClinVar TOPMed dbSNP gnomAD
rs1212280385 CA355859503	143	S>N		No	ClinGen gnomAD
rs749429079 RCV001344786 CA2753373	144	D>N		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1324535105 CA355859479	146	Q>R		No	ClinGen TOPMed
CA2753372 rs575702697	147	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
rs1380240903 CA355859473 COSM209246	147	R>H	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1380240903 CA355859471	147	R>L		No	ClinGen gnomAD
rs754669189 CA2753371	148	R>G		No	ClinGen ExAC gnomAD
rs1462366036 CA355859469	148	R>K		No	ClinGen gnomAD
CA2753370 rs751602173	148	R>S		No	ClinGen ExAC
rs893265403 CA90197202	149	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs370427924 CA2753369	150	P>S		No	ClinGen ExAC gnomAD
rs1442140185 CA355859446	152	N>D		No	ClinGen TOPMed
CA355859443 rs372409374	152	N>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs372409374 CA2753368	152	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs749978643 CA355859434	153	Y>*		No	ClinGen ExAC TOPMed gnomAD
rs764615189 CA2753366	154	L>Q		No	ClinGen ExAC gnomAD
CA2753363 rs764579592	157	A>D		No	ClinGen ExAC gnomAD
rs1251221204 CA355859414	157	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs556037842 CA2753362	158	Y>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA355859407 rs1184222793	158	Y>C		No	ClinGen TOPMed
TCGA novel	158	Y>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1291899476 CA355859402	159	I>F		No	ClinGen TOPMed gnomAD
CA90197201 RCV001060133 rs1053716947	159	I>S		No	ClinGen ClinVar TOPMed dbSNP
rs1291899476 CA355859404	159	I>V		No	ClinGen TOPMed gnomAD
CA2753361 rs776017457	160	K>E		No	ClinGen ExAC TOPMed gnomAD
CA2753360 rs772545724	160	K>R		No	ClinGen ExAC gnomAD
rs1577261551 CA355760004	162	N>K		No	ClinGen Ensembl
rs745876770 CA2753330 RCV001055901	164	L>P		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA89743270 rs756832334	165	E>*		No	ClinGen ExAC TOPMed gnomAD
CA2753326 RCV001296774 rs753266253	165	E>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV001201953 rs756832334 CA2753327 COSM1670777	165	E>K	Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
CA355759987 rs753266253	165	E>V		No	ClinGen ExAC TOPMed gnomAD
CA89743269 rs750075408	167	A>V		No	ClinGen TOPMed
TCGA novel	168	V>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs9821880 CA355759959	169	E>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1431700475 CA355759964	169	E>Q		No	ClinGen gnomAD
CA2753324 rs777215243	169	E>V		No	ClinGen ExAC gnomAD
CA2753322 rs752277935	170	A>T		No	ClinGen ExAC TOPMed gnomAD
rs767881057 CA2753321	171	A>G		No	ClinGen ExAC TOPMed gnomAD
RCV001213718 rs1560354033	172	H>D		No	ClinVar dbSNP
CA89743177 rs759877182	172	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA355759946 rs1560354033	172	H>Y		No	ClinGen Ensembl
rs144303961 CA2753319	173	T>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs181536548 CA2753315 COSM321379	176	V>L	lung [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs1471142174 CA355759913	177	A>G		No	ClinGen gnomAD
rs527400659 CA2753313	177	A>S		No	ClinGen 1000Genomes ExAC gnomAD
rs772061741 CA2753312	178	N>K		No	ClinGen ExAC TOPMed gnomAD
rs1176273699 CA355759904	179	P>A		No	ClinGen gnomAD
rs1362857072 RCV001297907 CA355759890	181	H>D		No	ClinGen ClinVar TOPMed dbSNP
rs1231336736 CA355759878	182	M>I		No	ClinGen TOPMed
CA2753311 rs150007134	182	M>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA355759880 rs1350380783	182	M>T		No	ClinGen TOPMed
CA2753310 rs150007134	182	M>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs1245797085 CA355759871	183	E>D		No	ClinGen gnomAD
rs770795519 CA2753309	183	E>Q		No	ClinGen ExAC gnomAD
rs751610367 CA89743112	183	E>V		No	ClinGen Ensembl
CA355759864 rs1205223933	184	M>R		No	ClinGen gnomAD
CA355759848 rs1262305402	186	Q>H		No	ClinGen gnomAD
CA2753307 rs777268250	188	I>V		No	ClinGen ExAC TOPMed gnomAD
CA2753306 rs371483753	189	E>K		No	ClinGen ESP ExAC gnomAD
CA2753305 rs578162225	190	N>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
COSM3427445 RCV001315688 CA2753304 rs780816013	193	A>V	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ClinVar ExAC NCI-TCGA dbSNP gnomAD
CA355759797 rs1295625317	194	T>A		No	ClinGen TOPMed gnomAD
CA355759778 rs1255250749	197	V>D		No	ClinGen TOPMed
CA2753301 rs150865227	197	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA355759764 rs1333924285	199	A>E		No	ClinGen gnomAD
CA2753300 rs763378470	201	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA2753297 rs765474828	203	V>I		No	ClinGen ExAC TOPMed gnomAD
rs761981755 CA2753296	204	D>V		No	ClinGen ExAC gnomAD
TCGA novel	206	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs542984316 CA2753291	211	M>I		No	ClinGen 1000Genomes ExAC gnomAD
CA2753292 rs774044548	211	M>T		No	ClinGen ExAC gnomAD
CA2753293 rs760904409	211	M>V		No	ClinGen ExAC gnomAD
CA355759667 rs1228249707	212	E>*		No	ClinGen gnomAD
rs768158421 CA2753245	214	Y>H		No	ClinGen ExAC gnomAD
rs768158421 CA355759653	214	Y>N		No	ClinGen ExAC gnomAD
RCV001320515 rs1723972613	216	A>V		No	ClinVar dbSNP
rs1560353267 CA355759628	217	G>A		No	ClinGen Ensembl
rs1305551631 CA355759631	217	G>R		No	ClinGen gnomAD
rs1404995845 CA355759625	218	V>L		No	ClinGen gnomAD
rs114328322 CA2753243	223	A>D		No	ClinGen 1000Genomes ExAC gnomAD
rs758731716 CA2753242	224	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs564132581 CA2753241	225	D>N		No	ClinGen 1000Genomes ExAC gnomAD
RCV001312670 rs1723971398	226	F>Y		No	ClinVar dbSNP
rs1408355931 CA355759561	227	E>K		No	ClinGen gnomAD
rs1408355931 CA355759560	227	E>Q		No	ClinGen gnomAD
CA355759549 rs1377566665	228	M>T		No	ClinGen TOPMed
CA355759540 rs1158140925	229	A>D		No	ClinGen gnomAD
rs779371732 CA2753240	230	I>F		No	ClinGen ExAC TOPMed gnomAD
CA355759537 rs779371732	230	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1298760642 CA355759532	231	R>G		No	ClinGen TOPMed
rs754328750 CA2753238	232	H>R		No	ClinGen ExAC
rs752928706 COSM209245 CA2753235	234	E>K	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA355759503 rs1219580245	235	Q>K		No	ClinGen gnomAD
rs1046171054 CA89741639	236	A>P		No	ClinGen Ensembl
rs767744731 CA2753234	241	F>C		No	ClinGen ExAC gnomAD
rs762781071 CA2753232	242	V>A		No	ClinGen ExAC
CA89741625 rs948793764	242	V>I		No	ClinGen gnomAD
CA2753231 RCV001066432 rs376765314	243	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
CA89741601 rs1048879835	245	T>I		No	ClinGen Ensembl
CA355759429 rs1224685440	246	E>K		No	ClinGen TOPMed gnomAD
CA2753228 rs776540365	248	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA2753229 rs761755425	248	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1345401360 CA355759405	249	T>I		No	ClinGen TOPMed gnomAD
CA355759399 rs562674418	251	C>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2753226 rs562674418	251	C>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA355759392 rs1178262276	252	E>K		No	ClinGen TOPMed
CA2753225 rs760202506	254	P>L		No	ClinGen ExAC gnomAD
CA355759358 rs1474562261	257	F>L		No	ClinGen TOPMed gnomAD
rs1321715481 CA355759355	257	F>S		No	ClinGen TOPMed
rs1321715481 CA355759353	257	F>Y		No	ClinGen TOPMed
rs1177013647 CA355759340 COSM1042513	259	E>*	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs1177013647 CA355759342	259	E>K		No	ClinGen gnomAD
TCGA novel	260	Y>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
RCV001044543 CA2753224 rs190460815	260	Y>F		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs75523528 CA89741527	261	E>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs75523528 COSM1581140 CA2753223	261	E>V	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs919133797 CA89741513	262	Y>*		No	ClinGen TOPMed
rs183732333 CA2753222 RCV001044544	262	Y>N		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA355759304 rs1248857394	264	G>E		No	ClinGen gnomAD
rs1463786886 CA355759297	265	Y>*		No	ClinGen gnomAD
rs944347200 CA89741502	265	Y>C		No	ClinGen TOPMed gnomAD
CA355759299 rs944347200	265	Y>S		No	ClinGen TOPMed gnomAD
rs1292519143 CA355759294	266	K>E		No	ClinGen Ensembl
COSM328666 CA2753221 RCV001306189 rs779423721	267	A>P	liver [Cosmic]	No	ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD
CA89741494 rs779423721	267	A>S		No	ClinGen ExAC TOPMed gnomAD
CA89741495 rs779423721	267	A>T		No	ClinGen ExAC TOPMed gnomAD
CA355759285 rs1466088282	267	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1211356713 CA355759282	268	G>C		No	ClinGen gnomAD
rs749868049 CA2753218	272	A>D		No	ClinGen ExAC gnomAD
CA2753219 rs771362645	272	A>T		No	ClinGen ExAC gnomAD
CA2753217 rs778338777	273	I>V		No	ClinGen ExAC gnomAD
CA2753215 rs752796338	275	D>Y		No	ClinGen ExAC
CA89731976 rs981111633	278	M>T		No	ClinGen Ensembl
CA2753197 rs781334204	278	M>V		No	ClinGen ExAC TOPMed gnomAD
rs755039988 CA2753196	279	Q>*		No	ClinGen ExAC TOPMed gnomAD
CA355759065 rs1577257287	279	Q>R		No	ClinGen Ensembl
CA2753195 rs751848270	280	V>M		No	ClinGen ExAC gnomAD
rs1172033141 CA355759019	281	L>P		No	ClinGen TOPMed
rs1387286394 CA355758977	283	C>F		No	ClinGen TOPMed gnomAD
CA355758919 rs1412110584	285	H>Q		No	ClinGen TOPMed gnomAD
CA2753193 rs757093641	285	H>R		No	ClinGen ExAC gnomAD
CA2753194 rs56026146 RCV001235828	285	H>Y		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA355758900 rs1398384742	286	E>G		No	ClinGen gnomAD
CA355758803 rs1577257256	290	E>D		No	ClinGen Ensembl
CA355758814 rs1483672350	290	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs763759338 CA2753191	291	L>V		No	ClinGen ExAC gnomAD
RCV001302882 rs1723794011	292	A>G		No	ClinVar dbSNP
CA355758778 rs1577257246	293	T>P		No	ClinGen Ensembl
rs752518027 CA2753190	294	R>C		No	ClinGen ExAC gnomAD
rs377087463 CA2753188	294	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA355758762 rs377087463	294	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA355758764 rs377087463	294	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs752518027 CA2753189	294	R>S		No	ClinGen ExAC gnomAD
rs759112193 CA2753187 RCV001039288	295	P>S		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs766103977 RCV001039531 CA2753185	296	G>A		No	ClinGen ClinVar ExAC dbSNP gnomAD
rs774186462 CA2753186	296	G>R		No	ClinGen ExAC TOPMed gnomAD
rs774186462 CA355758747	296	G>S		No	ClinGen ExAC TOPMed gnomAD
CA2753184 rs115596050	297	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs143105580 CA2753183	297	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	298	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1723792447 RCV001209133	299	S>A		No	ClinVar dbSNP
CA355758690 rs1306156587	300	P>H		No	ClinGen gnomAD
rs546454555 CA355758663	301	I>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1457608351 CA355758639	302	E>D		No	ClinGen TOPMed gnomAD
COSM1042511 CA2753181 rs748750473	302	E>K	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs960646728 CA89731870	305	L>I		No	ClinGen TOPMed
rs377364897 CA2753180	306	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs879234801 CA89731857	308	H>R		No	ClinGen TOPMed gnomAD
rs768767081 CA2753179	309	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA89731816 rs780847150	310	D>G		No	ClinGen Ensembl
rs904958070 CA89731819	310	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1427478478 CA355758410	312	L>Q		No	ClinGen TOPMed
rs1193702561 CA355758360	314	F>S		No	ClinGen TOPMed
CA2753177 rs199981637	315	A>V		No	ClinGen 1000Genomes ExAC gnomAD
CA2753175 rs746012620	316	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs746012620 CA355758322	316	Y>F		No	ClinGen ExAC TOPMed gnomAD
rs777638857 CA2753174	317	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs200083855 CA2753172	318	R>*		No	ClinGen ESP ExAC TOPMed gnomAD
COSM1753091 rs767531569 CA2753171	318	R>Q	Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA355758053 rs1364835234	319	V>G		No	ClinGen TOPMed gnomAD
CA2753146 rs750132399	320	G>R		No	ClinGen ExAC
CA355757990 rs1464105128	324	K>T		No	ClinGen TOPMed
CA2753143 rs754233084	326	L>Q		No	ClinGen ExAC
rs1158779196 CA355757950	327	E>G		No	ClinGen gnomAD
rs930603073 CA89730850	328	C>*		No	ClinGen gnomAD
rs1560350079 CA355757936	328	C>Y		No	ClinGen Ensembl
rs764376297 CA2753141	329	A>T		No	ClinGen ExAC gnomAD
rs1470983229 CA355757903	330	K>N		No	ClinGen TOPMed gnomAD
CA89730819 rs897479871	332	Y>*		No	ClinGen Ensembl
CA89730825 rs974389754	332	Y>C		No	ClinGen TOPMed gnomAD
rs775964341 CA2753139	334	L>P		No	ClinGen ExAC gnomAD
rs1234943720 CA355757869	334	L>V		No	ClinGen TOPMed gnomAD
CA355757850 rs1198693437	335	C>F		No	ClinGen gnomAD
rs1255348676 CA355757858	335	C>R		No	ClinGen gnomAD
CA89730812 rs528547294	337	P>A		No	ClinGen gnomAD
rs762551000 CA89730806 RCV001351057	338	D>V		No	ClinGen ClinVar Ensembl dbSNP
rs1411490023 CA355757800	339	D>G		No	ClinGen TOPMed
rs759502203 CA2753137	339	D>H		No	ClinGen ExAC gnomAD
CA2753136 rs115909080	340	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
RCV001045650 rs373927327 CA2753135	341	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs749476764 CA2753134	342	V>G		No	ClinGen ExAC TOPMed gnomAD
rs533651939 CA2753133	345	N>D		No	ClinGen 1000Genomes ExAC gnomAD
rs768510665 CA2753132	345	N>S		No	ClinGen ExAC
rs932824896 CA89730781	346	V>A		No	ClinGen TOPMed
rs1723745561 RCV001342019	348	Y>H		No	ClinVar dbSNP
CA2753130 rs779827734 RCV001043813	349	Y>C		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA2753129 rs116315439	353	L>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA355757674 rs1283699180	354	D>H		No	ClinGen TOPMed gnomAD
CA89730759 rs752367719	357	I>T		No	ClinGen TOPMed gnomAD
CA355757643 rs1577256173	358	D>A		No	ClinGen Ensembl
rs753433171 CA2753126	359	P>L		No	ClinGen ExAC TOPMed gnomAD
rs753433171 CA2753125	359	P>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	360	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	361	S>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2753122 rs146105790	362	I>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1439485497 CA355757608	364	A>T		No	ClinGen gnomAD
CA2753121 rs767888724	366	E>G		No	ClinGen ExAC gnomAD
rs755795378 CA2753073	369	T>I		No	ClinGen ExAC gnomAD
rs747764951 CA2753072	371	F>C		No	ClinGen ExAC gnomAD
CA355757197 rs1466491247	372	V>M		No	ClinGen gnomAD
rs1175689574 CA355757187	373	K>R		No	ClinGen TOPMed
CA2753071 rs781419405	374	R>C		No	ClinGen ExAC TOPMed gnomAD
rs1208578730 CA355757181	374	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs755353918 CA2753070	376	K>*		No	ClinGen ExAC gnomAD
rs766973596 CA2753069	379	S>C		No	ClinGen ExAC gnomAD
rs766973596 CA2753068	379	S>F		No	ClinGen ExAC gnomAD
rs1056168476 CA89729846	380	E>Q		No	ClinGen gnomAD
CA355757136 rs1219273131	381	L>P		No	ClinGen gnomAD
rs368810052 CA89729842	382	I>T		No	ClinGen Ensembl
rs1343712811 CA355757116	384	S>*		No	ClinGen gnomAD
rs758928478 RCV001237143 CA2753067	386	A>P		No	ClinGen ClinVar ExAC dbSNP gnomAD
CA355757108 rs758928478	386	A>T		No	ClinGen ExAC gnomAD
CA355757100 rs765345631	387	E>G		No	ClinGen ExAC TOPMed gnomAD
rs1365566297 CA355757103	387	E>K		No	ClinGen gnomAD
RCV001070263 CA2753065 rs765345631	387	E>V		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1437861339 CA355757092	388	G>A		No	ClinGen TOPMed
CA2753063 RCV001034289 rs35904452	390	G>E		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA355757062 rs1415073562	393	Y>C		No	ClinGen gnomAD
CA355757066 rs1366004910	393	Y>N		No	ClinGen TOPMed
CA2753061 rs377460199 RCV001232936	394	T>A		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA355757056 rs1171947478	394	T>S		No	ClinGen gnomAD
rs749183285	396	P>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs774202013 CA2753060	396	P>Q		No	ClinGen ExAC gnomAD
CA355757045 rs1289303875	396	P>T		No	ClinGen TOPMed
rs570298526 CA89728112	398	Y>C		No	ClinGen TOPMed
rs746578924 CA2753031	399	W>*		No	ClinGen ExAC gnomAD
TCGA novel	399	W>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs768389240 CA2753032	399	W>R		No	ClinGen ExAC gnomAD
CA2753030 rs780583614	401	R>T		No	ClinGen ExAC gnomAD
rs757331420 CA2753026	405	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA2753025 rs35737596	408	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2753024 rs774914899 COSM354356	410	R>Q	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
COSM1042507 CA355756529 rs1307588537	410	R>W	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs944781678 CA89726907	412	P>L		No	ClinGen TOPMed
rs1249661376 CA355756388	414	G>R		No	ClinGen gnomAD
rs781359572 CA2753003	415	V>G		No	ClinGen ExAC
CA89726893 rs113800572	416	N>D		No	ClinGen Ensembl
CA2753000 rs146835015	417	V>A		No	ClinGen 1000Genomes ExAC gnomAD
rs750251743 CA2753001 RCV001297599	417	V>I		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA89726850 rs1049617493	418	E>D		No	ClinGen Ensembl
rs140958763 CA2752997 RCV001058386	419	G>V		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA89726841 rs914237737	420	A>G		No	ClinGen Ensembl
CA2752996 rs753706950	422	V>F		No	ClinGen ExAC gnomAD
rs921155105 CA89726828	423	H>R		No	ClinGen TOPMed
TCGA novel	425	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs573407054 CA2752993	427	M>L		No	ClinGen ExAC TOPMed gnomAD
rs573407054 CA2752994	427	M>V		No	ClinGen ExAC TOPMed gnomAD
CA355756217 rs1467085046	428	G>R		No	ClinGen gnomAD
rs962612138 CA89726780	429	K>E		No	ClinGen TOPMed
rs1377708516 CA355756192	430	K>E		No	ClinGen gnomAD
rs759221479 CA2752991	430	K>R		No	ClinGen ExAC gnomAD
rs1560347618	431	L>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs771139030 CA2752989	432	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs749860314 CA2752988	435	I>L		No	ClinGen ExAC gnomAD
CA355756158 rs1577253570	435	I>T		No	ClinGen Ensembl
COSM1617307 CA355756146 rs773586841	437	R>*	Variant assessed as Somatic; 0.0 impact. liver breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA2752986 rs769955962	437	R>P		No	ClinGen ExAC TOPMed gnomAD
rs769955962 CA355756145	437	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs781197144 CA2752984	439	L>Q		No	ClinGen ExAC gnomAD
TCGA novel	440	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1221418135 CA355756115	442	G>R		No	ClinGen TOPMed
RCV000519726 rs778079243	443	G>missing		No	ClinVar dbSNP
rs1442486375 CA355754386	443	G>D		No	ClinGen TOPMed
rs151035620 RCV001225943 CA2752967	444	P>A		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA2752966 rs770306344	444	P>L		No	ClinGen ExAC gnomAD
rs151035620 RCV001069006	444	P>S		No	ClinVar dbSNP
rs1393968007 CA355754331	446	L>P		No	ClinGen gnomAD
rs776705965 CA2752964	447	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs997221214 CA89722208	449	N>D		No	ClinGen TOPMed
CA89722206 rs967385582	450	I>M		No	ClinGen gnomAD
CA355754225 rs1185757445	451	T>I		No	ClinGen gnomAD
CA355754213 rs1474240576	452	F>C		No	ClinGen gnomAD
rs267599731 CA2752963	452	F>L		No	ClinGen ExAC TOPMed gnomAD
CA355754202 rs1475596727	453	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA2752961 rs780112859 COSM729990	453	V>I	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1437444162 CA355754191	454	Y>C		No	ClinGen TOPMed gnomAD
CA89722193 rs1017896025	455	N>S		No	ClinGen TOPMed
RCV001069960 rs780557025 CA2752960	456	S>L		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs777587498 CA355754148	457	E>D		No	ClinGen ExAC TOPMed gnomAD
CA89722178 RCV000760594 rs895635914	458	Q>*		No	ClinGen ClinVar TOPMed dbSNP gnomAD
CA355754129 rs1342141696	459	L>Q		No	ClinGen TOPMed
rs577492876 CA2752954	461	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs116425590 CA2752953	462	T>S		No	ClinGen 1000Genomes ExAC
rs1440913446 CA355754087	463	Q>*		No	ClinGen TOPMed gnomAD
CA2752950 rs750783069	464	R>G		No	ClinGen ExAC gnomAD
CA2752949 COSM1042506 rs537288155	464	R>Q	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
COSM729991 rs750783069 CA2752951 RCV001245150	464	R>W	lung [Cosmic]	No	ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD
CA355754079 rs1387099004	465	V>I		No	ClinGen gnomAD
rs372345193 CA2752948	466	L>F		No	ClinGen ESP ExAC gnomAD
CA2752947 rs146852112	466	L>P		No	ClinGen ESP ExAC TOPMed
CA355754061 rs1162617598	468	D>G		No	ClinGen TOPMed gnomAD
rs567776562 CA89722139	468	D>Y		No	ClinGen 1000Genomes
CA2752945 rs768764650	469	N>D		No	ClinGen ExAC gnomAD
rs772218098 CA2752943	469	N>K		No	ClinGen ExAC TOPMed gnomAD
rs760653286 CA2752944	469	N>S		No	ClinGen ExAC gnomAD
rs758385443 CA89722121	470	V>A		No	ClinGen Ensembl
CA2752941 rs143768603 COSM446176	470	V>I	breast [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs143768603 CA355754052	470	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs933120892 CA89722116	471	L>P		No	ClinGen Ensembl
CA2752940 rs777721300 COSM1582573	472	S>L	Variant assessed as Somatic; 0.0 impact. stomach [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs140117066 CA2752936 RCV001348909	473	E>K		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA2752935 rs781244287	474	E>D		No	ClinGen ExAC gnomAD
rs1212285635 CA355754023	475	Q>*		No	ClinGen gnomAD
rs754583836 CA355754019	475	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs926165713 CA89722096	475	Q>R		No	ClinGen TOPMed
CA355754009 rs1553872347	477	R>Q		No	ClinGen Ensembl
CA2752931 rs201266004 RCV001040775	477	R>W		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA2752929 rs765657498	478	E>Q		No	ClinGen ExAC
rs13083435 CA89722072	480	H>P		No	ClinGen Ensembl
CA355753983 rs1276204648	481	S>N		No	ClinGen gnomAD
CA355753979 rs762134170	481	S>R		No	ClinGen ExAC TOPMed gnomAD
rs1369594494 CA355753966	484	S>G		No	ClinGen TOPMed
CA2752926 rs34111865 RCV001238857	484	S>R		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA355753963 rs1240301231	484	S>T		No	ClinGen TOPMed
CA2752907 rs754236871	485	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA355753930 rs1420688533	487	M>I		No	ClinGen gnomAD
CA2752906 rs764378301	489	V>F		No	ClinGen ExAC gnomAD
CA2752904 rs199521776	490	G>C		No	ClinGen ExAC gnomAD
rs199521776 CA89721841	490	G>R		No	ClinGen ExAC gnomAD
CA2752903 rs767557384	491	D>Y		No	ClinGen ExAC gnomAD
TCGA novel	492	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2752902 rs759626556	493	Y>H		No	ClinGen ExAC gnomAD
rs766729715 CA2752901	494	R>G		No	ClinGen ExAC TOPMed gnomAD
CA355753836 rs1380477446	497	T>A		No	ClinGen TOPMed
rs763225199 CA2752899	497	T>S		No	ClinGen ExAC TOPMed gnomAD
CA355753784 rs1258475747	500	H>R		No	ClinGen TOPMed gnomAD
rs1489172498 CA355753790	500	H>Y		No	ClinGen gnomAD
RCV001201527 rs1294582117 CA355753774	501	T>A		No	ClinGen ClinVar TOPMed dbSNP gnomAD
rs377143113 CA2752897	501	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs775467897 CA2752895	502	P>S		No	ClinGen ExAC gnomAD
CA355753736 rs35072845	503	N>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2752894 rs35072845	503	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA89721813 rs35072845	503	N>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1723264365 RCV001325646	507	E>K		No	ClinVar dbSNP
CA2752892 rs778358506	509	A>G		No	ClinGen ExAC TOPMed gnomAD
CA355753632 rs778358506	509	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1355390875 CA355753629	510	T>S		No	ClinGen TOPMed gnomAD
rs756909810 RCV001039321 CA2752891	511	V>I		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs756909810 RCV001303239 CA89721804	511	V>L		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1245307888 CA355753578	513	K>N		No	ClinGen TOPMed
rs1316107519 CA355753583	513	K>R		No	ClinGen TOPMed
TCGA novel	515	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1416534043 CA355753544	516	K>Q		No	ClinGen gnomAD
rs748885674 CA2752890	516	K>T		No	ClinGen ExAC TOPMed gnomAD
CA355753514 rs1440693417	517	S>F		No	ClinGen gnomAD
rs1455582789 CA355753518	517	S>P		No	ClinGen TOPMed
rs1440693417 CA355753516	517	S>Y		No	ClinGen gnomAD
CA355753511 rs1323178173	518	G>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1362725609 CA355753503	519	Y>F		No	ClinGen gnomAD
rs1003425934 CA89721177	519	Y>N		No	ClinGen Ensembl
CA355753497 rs1394565651	520	E>G		No	ClinGen TOPMed
CA89721173 COSM1308944 rs866107570	520	E>K	Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA89721163 rs1044586632	521	G>D		No	ClinGen Ensembl
rs371246626 CA2752847	522	R>*		No	ClinGen ESP ExAC gnomAD
rs371246626 CA2752848	522	R>G		No	ClinGen ESP ExAC gnomAD
rs139465966 RCV001327040 CA2752846	522	R>Q		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA355753471 rs1560342611	525	L>P		No	ClinGen Ensembl
TCGA novel	526	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs762424150 CA2752842	527	S>N		No	ClinGen ExAC gnomAD
rs199877373 CA2752840	528	A>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs199877373 CA2752839	528	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA355753448 rs141691712	529	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	533	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2752835 rs780686120	534	I>S		No	ClinGen ExAC gnomAD
rs1234577843 CA355753401 RCV001314621	534	I>V		No	ClinGen ClinVar dbSNP gnomAD
rs545810582 CA89721133	536	E>K		No	ClinGen TOPMed gnomAD
CA355753308 rs1384962507	539	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA89721129 rs929388620	539	R>Q		No	ClinGen gnomAD
rs1467167293 CA355753264	541	I>M		No	ClinGen TOPMed gnomAD
rs745992530 CA2752833	544	S>Y		No	ClinGen ExAC gnomAD
CA89721106 rs146951799	547	M>L		No	ClinGen ESP TOPMed
rs757519022 CA2752830	547	M>T		No	ClinGen ExAC gnomAD
CA355753122 rs1418541059	549	N>S		No	ClinGen TOPMed
rs753996660 CA2752829	550	S>*		No	ClinGen ExAC gnomAD
rs767369900 CA2752828	553	Y>*		No	ClinGen ExAC gnomAD
CA89721092 COSM1308943 rs1040473465	553	Y>C	Variant assessed as Somatic; impact. urinary_tract breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated Ensembl NCI-TCGA
CA355753058 rs1259632907	556	Y>C		No	ClinGen gnomAD
rs953244109 CA89721084	557	T>I		No	ClinGen TOPMed
CA89721075 rs142826976	558	H>D		No	ClinGen ESP TOPMed
rs142826976 CA89721077	558	H>N		No	ClinGen ESP TOPMed
CA355753048 rs1203434229	558	H>P		No	ClinGen gnomAD
rs754734158 CA2752827	558	H>Q		No	ClinGen ExAC gnomAD
CA355753049 rs142826976	558	H>Y		No	ClinGen ESP TOPMed
rs369003609 CA2752826	559	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA2752825 rs766322611	560	V>A		No	ClinGen ExAC gnomAD
TCGA novel	560	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs762755617 CA2752824	561	C>G		No	ClinGen ExAC gnomAD
RCV001062138 rs772782439 CA2752823	562	R>*		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs376010445 CA89721048	562	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA2752822 COSM1421628 rs376010445 RCV001303215	562	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV001350965 CA89721045 rs946647722	563	T>K		No	ClinGen ClinVar Ensembl dbSNP
rs1326338537 CA355753014	564	A>G		No	ClinGen TOPMed gnomAD
rs761582399 CA2752821	565	L>Q		No	ClinGen ExAC gnomAD
CA2752820 rs776118363	567	G>S		No	ClinGen ExAC
CA2752798 rs760338105	567	G>V		No	ClinGen ExAC TOPMed gnomAD
CA355752982 rs1471876626	568	Q>R		No	ClinGen gnomAD
RCV001308270 rs776013018 CA2752797	571	R>G		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
TCGA novel	572	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs201676771 CA2752796	573	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1390175751 CA355752934	574	D>E		No	ClinGen TOPMed
rs767012332 RCV000481253	576	S>missing		No	ClinVar dbSNP
CA355752925 rs1437539892	576	S>G		No	ClinGen gnomAD
rs1560341985 CA355752922	576	S>N		No	ClinGen Ensembl
rs746458387 CA2752794	577	H>D		No	ClinGen ExAC gnomAD
rs1216004834 CA355752909	578	P>S		No	ClinGen gnomAD
CA2752791 rs749345227	581	A>G		No	ClinGen ExAC gnomAD
rs1352246248 CA355752883	582	D>Y		No	ClinGen gnomAD
rs1438985269 CA355752877	583	N>H		No	ClinGen TOPMed
rs777787240 CA2752790	583	N>S		No	ClinGen ExAC TOPMed gnomAD
CA89720566 rs766232136	584	C>S		No	ClinGen Ensembl
rs569776527 CA2752788	586	L>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs866396226 CA89720546	587	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA2752787 rs536132296	591	N>S		No	ClinGen 1000Genomes ExAC gnomAD
CA2752785 rs750424587	592	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
TCGA novel	593	C>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs778738955 CA2752784	595	K>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA2752783 rs185084775	597	P>H		No	ClinGen 1000Genomes ExAC gnomAD
rs1327109340 CA355752770	598	P>S		No	ClinGen TOPMed
rs114217732 CA355752754	600	Y>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA89720520 rs34620268	602	F>L		No	ClinGen TOPMed gnomAD
RCV001246354 CA2752779 COSM275845 rs35067805	603	R>*	large_intestine [Cosmic]	No	ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs374266006 CA2752777	603	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs750399615 CA2752776	604	D>N		No	ClinGen ExAC gnomAD
CA2752774 rs771370088	605	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA355752726 rs771370088	605	Y>F		No	ClinGen ExAC TOPMed gnomAD
CA2752775 rs201411795	605	Y>H		No	ClinGen 1000Genomes ExAC gnomAD
CA355752729 rs201411795	605	Y>N		No	ClinGen 1000Genomes ExAC gnomAD
CA355752720 rs1471297612	606	S>T		No	ClinGen TOPMed
RCV001340806 rs1723157832	607	A>missing		No	ClinVar dbSNP
rs115523916 CA2752755	607	A>D		No	ClinGen 1000Genomes ExAC gnomAD
rs368494797 CA89720051	608	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA TOPMed
rs761904647 CA2752753	609	L>P		No	ClinGen ExAC gnomAD
rs376254011 CA355752686	610	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs376254011 CA2752752	610	Y>F		No	ClinGen ESP ExAC TOPMed gnomAD
RCV001207080 rs376254011 CA2752751	610	Y>S		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA355752681 rs1420800871	611	M>T		No	ClinGen gnomAD
rs116310842 CA2752750	611	M>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2752749 rs774075107	613	D>A		No	ClinGen ExAC gnomAD
VAR_036123	613	D>N	a breast cancer sample; somatic mutation [UniProt]	No	UniProt
TCGA novel	614	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs770847694 CA2752748	614	D>V		No	ClinGen ExAC gnomAD
CA355752651 rs1560341412	615	F>V		No	ClinGen Ensembl
TCGA novel	616	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA89720030 rs113123613	616	E>G		No	ClinGen Ensembl
rs1317247440 CA355752618	620	F>L		No	ClinGen TOPMed
rs1439075333 CA355752609	621	I>V		No	ClinGen TOPMed
rs549590724 CA2752742	624	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA89720014 rs549590724	624	E>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1425128293 CA355752570	626	D>G		No	ClinGen gnomAD
rs1272133815 CA355752574	626	D>N		No	ClinGen gnomAD
rs754597633 CA2752741	627	A>S		No	ClinGen ExAC gnomAD
CA89720004 rs752757047	629	T>I		No	ClinGen gnomAD
CA355752553 rs1345436294	629	T>P		No	ClinGen TOPMed
rs1577246208 CA355752536	631	T>I		No	ClinGen Ensembl
CA2752727 rs773098919	632	A>T		No	ClinGen ExAC gnomAD
rs558211251 CA2752726	632	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1160744933 CA355752035	634	I>M		No	ClinGen gnomAD
TCGA novel CA355752040 rs1577241825	634	I>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA Ensembl
rs748057759 CA355752030	635	K>I		No	ClinGen ExAC TOPMed gnomAD
RCV001309684 CA2752725 rs748057759	635	K>T		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001044855 rs780622871 CA2752724	636	P>S		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs746678912 CA2752722	638	C>R		No	ClinGen ExAC gnomAD
CA355752008 rs1577241793	638	C>W		No	ClinGen Ensembl
CA355752012 rs1560337881	638	C>Y		No	ClinGen Ensembl
CA355752004 rs1203610419	639	G>V		No	ClinGen TOPMed
CA2752719 COSM1256407 rs758007118	640	R>C	Variant assessed as Somatic; 0.0 impact. oesophagus [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA2752718 rs765123377	640	R>H		No	ClinGen ExAC TOPMed gnomAD
CA2752717 rs765123377	640	R>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1263758487 CA355751998	641	M>L		No	ClinGen TOPMed gnomAD
rs1263758487 CA355751997	641	M>V		No	ClinGen TOPMed gnomAD
rs757821033 CA2752716	642	I>N		No	ClinGen ExAC TOPMed gnomAD
CA355751986 COSM1421625 rs757821033	642	I>T	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA2752714 rs764122603	645	S>L		No	ClinGen ExAC TOPMed gnomAD
CA89716049 rs1019382778 RCV001048538	647	G>A		No	ClinGen ClinVar TOPMed dbSNP gnomAD
rs1360758839 CA355751949	648	G>*		No	ClinGen TOPMed
CA355751948 rs1387026412	648	G>V		No	ClinGen TOPMed
rs149099374 CA2752711	650	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA2752712 rs201191537	650	N>T		No	ClinGen 1000Genomes ExAC
rs759762051 CA2752710	651	P>A		No	ClinGen ExAC gnomAD
rs145198817 CA2752709	651	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
RCV001304714 rs1722898307	652	H>Y		No	ClinVar dbSNP
rs1156341808 CA355751893	657	V>I		No	ClinGen Ensembl
rs769696806 CA2752707	658	T>I		No	ClinGen ExAC TOPMed gnomAD
rs150393214 CA2752706	659	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs150393214 CA355751882	659	K>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs776598543 CA2752705 RCV001053178	661	K>R		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA2752704 rs750077156	663	C>G		No	ClinGen ExAC gnomAD
CA355751846 rs746551156	664	A>S		No	ClinGen ExAC TOPMed gnomAD
rs746551156 CA2752703	664	A>T		No	ClinGen ExAC TOPMed gnomAD
CA355751843 rs1285497442	664	A>V		No	ClinGen gnomAD
rs1281489447 CA355751839	665	V>A		No	ClinGen gnomAD
CA2752701 RCV001225661 rs771726888	665	V>M		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA355751836 rs377236809	666	A>S		No	ClinGen ESP TOPMed gnomAD
rs377236809 CA89715980 RCV001201765	666	A>T		No	ClinGen ClinVar ESP TOPMed dbSNP gnomAD
rs1412551716 CA355751829	667	L>P		No	ClinGen TOPMed
RCV000522428 rs745507744 CA2752700	668	W>C		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA355751823 RCV001321480 rs1577241673	668	W>S		No	ClinGen ClinVar Ensembl dbSNP
rs1061534 CA89715976	669	F>L		No	ClinGen Ensembl
rs757612412 CA2752698	671	L>S		No	ClinGen ExAC gnomAD
CA2752699 rs779319349	671	L>V		No	ClinGen ExAC gnomAD
CA355751801 rs1339275479	672	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA89715963 RCV001062153 rs890670049	675	Y>H		No	ClinGen ClinVar TOPMed dbSNP gnomAD
CA355751772 rs1402322758	676	R>K		No	ClinGen gnomAD
CA355751080 rs1457696843	679	E>A		No	ClinGen gnomAD
CA355751077 rs1181484190	679	E>D		No	ClinGen gnomAD
CA2752672 rs751877902 RCV001047398	680	R>*		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs571855250 CA2752671 RCV001211812	680	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs1334925922 CA355751067	681	I>M		No	ClinGen gnomAD
rs1722692833 RCV001229157	682	Q>*		No	ClinVar dbSNP
rs1283182404 CA355751048	684	D>G		No	ClinGen gnomAD
rs1242144361 CA355751030	687	I>L		No	ClinGen TOPMed gnomAD
rs763044914 CA2752670	690	L>R		No	ClinGen ExAC gnomAD
rs753681506 CA2752669	693	E>G		No	ClinGen ExAC
rs1307402018 CA355750981	694	Q>*		No	ClinGen gnomAD
rs763784093 CA2752668	694	Q>R		No	ClinGen ExAC gnomAD
CA355750971 rs1216700399	695	Q>R		No	ClinGen TOPMed
TCGA novel	696	G>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2752666 rs775377613	696	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1463017284 CA355750961	697	K>*		No	ClinGen gnomAD
CA355750949 rs1391557927	698	H>Q		No	ClinGen TOPMed gnomAD
rs1466047527 CA355750953	698	H>Y		No	ClinGen TOPMed
rs1478310915 CA355750914	703	N>I		No	ClinGen TOPMed
rs773814562 CA2752663	705	K>E		No	ClinGen ExAC TOPMed gnomAD
rs773814562 CA2752664	705	K>Q		No	ClinGen ExAC TOPMed gnomAD
rs1182927882 CA355750895	706	D>G		No	ClinGen gnomAD
CA355750898 rs1365819050	706	D>N		No	ClinGen gnomAD
CA355750884 rs1439509259	707	E>D		No	ClinGen gnomAD

1 associated diseases with Q8IVL5

[MIM: 614292]: Myopia, high, with cataract and vitreoretinal degeneration (MCVD)

A disorder characterized by severe myopia with variable expressivity of cataract and vitreoretinal degeneration. Some patients manifest lens subluxation, lens instability and retinal detachment. {ECO:0000269|PubMed:21885030}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

A disorder characterized by severe myopia with variable expressivity of cataract and vitreoretinal degeneration. Some patients manifest lens subluxation, lens instability and retinal detachment. {ECO:0000269|PubMed:21885030}. Note=The disease is caused by variants affecting the gene represented in this entry.

3 regional properties for Q8IVL5

Type	Name	Position	InterPro Accession
domain	Oxoglutarate/iron-dependent dioxygenase	557 - 671	IPR005123
domain	Prolyl 4-hydroxylase, alpha subunit	462 - 670	IPR006620
domain	Prolyl 4-hydroxylase alpha subunit, Fe(2+) 2OG dioxygenase domain	580 - 669	IPR044862

Functions

		Description
EC Number
Subcellular Localization	Endoplasmic reticulum Sarcoplasmic reticulum Golgi apparatus
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

8 GO annotations of cellular component

Name	Definition
basement membrane	A collagen-containing extracellular matrix consisting of a thin layer of dense material found in various animal tissues interposed between the cells and the adjacent connective tissue. It consists of the basal lamina plus an associated layer of reticulin fibers.
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).
endoplasmic reticulum lumen	The volume enclosed by the membranes of 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.
intracellular membrane-bounded organelle	Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane.
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.
sarcoplasmic reticulum	A fine reticular network of membrane-limited elements that pervades the sarcoplasm of a muscle cell; continuous over large portions of the cell and with the nuclear envelope; that part of the endoplasmic reticulum specialized for calcium release, uptake and storage.

3 GO annotations of molecular function

Name	Definition
iron ion binding	Binding to an iron (Fe) ion.
L-ascorbic acid binding	Binding to L-ascorbic acid, (2R)-2-[(1S)-1,2-dihydroxyethyl]-4-hydroxy-5-oxo-2,5-dihydrofuran-3-olate; L-ascorbic acid is vitamin C and has co-factor and anti-oxidant activities in many species.
procollagen-proline 3-dioxygenase activity	Catalysis of the reaction: procollagen L-proline + 2-oxoglutarate + O2 = procollagen trans-3-hydroxy-L-proline + succinate + CO2.

3 GO annotations of biological process

Name	Definition
collagen metabolic process	The chemical reactions and pathways involving collagen, any of a group of fibrous proteins of very high tensile strength that form the main component of connective tissue in animals. Collagen is highly enriched in glycine (some regions are 33% glycine) and proline, occurring predominantly as 3-hydroxyproline (about 20%).
negative regulation of cell population proliferation	Any process that stops, prevents or reduces the rate or extent of cell proliferation.
peptidyl-proline hydroxylation	The hydroxylation of peptidyl-proline to form peptidyl-hydroxyproline.

4 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q6JHU7	P3H2	Prolyl 3-hydroxylase 2	Gallus gallus (Chicken)	PR
Q92791	P3H4	Endoplasmic reticulum protein SC65	Homo sapiens (Human)	PR
Q8K2B0	P3h4	Endoplasmic reticulum protein SC65	Mus musculus (Mouse)	PR
Q4KLM6	P3h2	Prolyl 3-hydroxylase 2	Rattus norvegicus (Rat)	PR

10	20	30	40	50	60
MRERIWAPPL	LLLLPLLLPP	PLWGGPPDSP	RRELELEPGP	LQPFDLLYAS	GAAAYYSGDY
70	80	90	100	110	120
ERAVRDLEAA	LRSHRRLREI	RTRCARHCAA	RHPLPPPPPG	EGPGAELPLF	RSLLGRARCY
130	140	150	160	170	180
RSCETQRLGG	PASRHRVSED	VRSDFQRRVP	YNYLQRAYIK	LNQLEKAVEA	AHTFFVANPE
190	200	210	220	230	240
HMEMQQNIEN	YRATAGVEAL	QLVDREAKPH	MESYNAGVKH	YEADDFEMAI	RHFEQALREY
250	260	270	280	290	300
FVEDTECRTL	CEGPQRFEEY	EYLGYKAGLY	EAIADHYMQV	LVCQHECVRE	LATRPGRLSP
310	320	330	340	350	360
IENFLPLHYD	YLQFAYYRVG	EYVKALECAK	AYLLCHPDDE	DVLDNVDYYE	SLLDDSIDPA
370	380	390	400	410	420
SIEAREDLTM	FVKRHKLESE	LIKSAAEGLG	FSYTEPNYWI	RYGGRQDENR	VPSGVNVEGA
430	440	450	460	470	480
EVHGFSMGKK	LSPKIDRDLR	EGGPLLYENI	TFVYNSEQLN	GTQRVLLDNV	LSEEQCRELH
490	500	510	520	530	540
SVASGIMLVG	DGYRGKTSPH	TPNEKFEGAT	VLKALKSGYE	GRVPLKSARL	FYDISEKARR
550	560	570	580	590	600
IVESYFMLNS	TLYFSYTHMV	CRTALSGQQD	RRNDLSHPIH	ADNCLLDPEA	NECWKEPPAY
610	620	630	640	650	660
TFRDYSALLY	MNDDFEGGEF	IFTEMDAKTV	TASIKPKCGR	MISFSSGGEN	PHGVKAVTKG
670	680	690	700
KRCAVALWFT	LDPLYRELER	IQADEVIAIL	DQEQQGKHEL	NINPKDEL