AiPD: Autoinhibited Protein Database

O75146

Gene name	HIP1R (HIP12, KIAA0655)
Protein name	Huntingtin-interacting protein 1-related protein
Names	HIP1-related protein, Huntingtin-interacting protein 12, HIP-12
Species	Homo sapiens (Human)
KEGG Pathway	hsa:9026
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

511-604 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

511-604 (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

2 structures for O75146

Entry ID	Method	Resolution	Chain	Position	Source
1R0D	X-ray	190 A	A/B/D/E/F/G/H/I	771-971	PDB
AF-O75146-F1	Predicted				AlphaFoldDB

1074 variants for O75146

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1205029446 CA387080430	2	N>K		No	ClinGen TOPMed gnomAD
CA244774746 rs999953800	3	S>N		No	ClinGen TOPMed gnomAD
CA387080451 rs1566098134	5	K>N		No	ClinGen Ensembl
CA244774763 rs1033137856	5	K>T		No	ClinGen TOPMed
CA387080468 rs867308402	8	P>S		No	ClinGen gnomAD
CA244774764 rs867308402	8	P>T		No	ClinGen gnomAD
rs1243685520 CA387080472	9	A>T		No	ClinGen gnomAD
CA387080480 rs1476901365	9	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs866272029 CA244774765	13	S>R		No	ClinGen gnomAD
rs1416327146 CA387080526	14	R>C		No	ClinGen gnomAD
CA387080529 rs1157074667	14	R>H		No	ClinGen TOPMed gnomAD
CA387080532 rs1157074667	14	R>L		No	ClinGen TOPMed gnomAD
rs1566098164 CA387080538	15	R>K		No	ClinGen Ensembl
rs1353281652 CA387080551	16	P>A		No	ClinGen TOPMed
CA387080556 rs1387934598	16	P>R		No	ClinGen gnomAD
CA387080611 rs1275749630	22	A>T		No	ClinGen gnomAD
CA387080617 rs1224929742	23	E>K		No	ClinGen gnomAD
CA387080712 rs1327847072	29	K>E		No	ClinGen gnomAD
rs1252124564 CA387080737	30	T>I		No	ClinGen TOPMed
CA387080727 rs1593853888	30	T>P		No	ClinGen Ensembl
CA387080748 rs1209327613	31	Q>R		No	ClinGen gnomAD
rs1366750775 CA387082149	32	A>T		No	ClinGen gnomAD
CA387082212 rs1593868197	41	T>P		No	ClinGen Ensembl
rs1387521591 CA387082218	42	Q>K		No	ClinGen gnomAD
CA6850862 rs746265607	43	E>K		No	ClinGen ExAC gnomAD
CA387082236 rs1369575855	44	A>D		No	ClinGen gnomAD
TCGA novel	45	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6850865 rs747647256	46	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
COSM1322678 CA244784270 rs907283688	48	E>*	ovary [Cosmic]	No	ClinGen cosmic curated Ensembl
CA387082268 rs1172894512	49	K>T		No	ClinGen TOPMed
CA244784271 rs572100848	50	H>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs760319031 CA244784282	51	A>S		No	ClinGen ExAC TOPMed gnomAD
CA6850868 rs760319031	51	A>T		No	ClinGen ExAC TOPMed gnomAD
rs770513477 CA6850869	51	A>V		No	ClinGen ExAC gnomAD
rs759442153 CA6850871	52	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA6850870 rs776525480	52	R>W		No	ClinGen ExAC TOPMed gnomAD
CA6850872 rs765243628	53	R>C	Variant assessed as Somatic; 4.653e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs762888296 CA6850891	53	R>H		No	ClinGen ExAC TOPMed gnomAD
CA387082299 rs762888296	53	R>L		No	ClinGen ExAC TOPMed gnomAD
rs1434369325 CA387082309	55	I>V		No	ClinGen TOPMed
rs1276968489 CA387082331	58	T>I		No	ClinGen TOPMed gnomAD
rs1593868780 CA387082335	59	H>P		No	ClinGen Ensembl
rs1375584454 CA387082348	61	E>K		No	ClinGen TOPMed gnomAD
CA6850894 rs761850482	63	G>R		No	ClinGen ExAC gnomAD
CA387082374 rs1176558716	64	A>V		No	ClinGen gnomAD
CA6850896 rs371031790	66	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1455619694 CA387082383	66	T>P		No	ClinGen gnomAD
CA387082402 rs756335531	68	W>*		No	ClinGen ExAC TOPMed gnomAD
CA6850897 rs756335531	68	W>C		No	ClinGen ExAC TOPMed gnomAD
rs2135014 CA387082416	70	Y>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs780339788 CA6850898	70	Y>C		No	ClinGen ExAC gnomAD
rs572028651 CA6850901	72	I>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6850900 rs755472997	72	I>V		No	ClinGen ExAC gnomAD
CA6850903 rs368096447	75	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs780986425 CA6850904	76	L>P		No	ClinGen ExAC gnomAD
TCGA novel	77	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA387082542 rs1267058408	83	S>G		No	ClinGen gnomAD
rs775373303 CA6850907	86	F>V		No	ClinGen ExAC
CA244784719 rs752888975	87	C>*		No	ClinGen Ensembl
CA387082603 rs1430846164	87	C>Y		No	ClinGen TOPMed gnomAD
CA6850910 rs768619982	89	V>I		No	ClinGen ExAC TOPMed gnomAD
rs373819206 CA244784742	91	H>Q		No	ClinGen ESP TOPMed gnomAD
CA6850912 rs267603357	94	L>F		No	ClinGen ExAC gnomAD
CA6850913 rs767522862	95	R>*		No	ClinGen ExAC TOPMed gnomAD
rs773294717 CA387082705	95	R>P		No	ClinGen ExAC TOPMed gnomAD
CA6850914 rs773294717	95	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs766621616 COSM1254188 CA6850916	97	G>R	Variant assessed as Somatic; 0.0 impact. oesophagus [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
TCGA novel	97	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs755345037 CA6850918	100	N>I		No	ClinGen ExAC TOPMed gnomAD
rs1413738398 CA387082775	100	N>K		No	ClinGen gnomAD
rs755345037 CA244784794	100	N>S		No	ClinGen ExAC TOPMed gnomAD
CA387082852 rs972875935	102	L>V		No	ClinGen gnomAD
rs747076283 CA6850950	107	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs530896606 CA6850949	107	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs771064907 CA6850951	109	R>C		No	ClinGen ExAC TOPMed gnomAD
rs1205862978 CA387082943	109	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA6850952 rs776776573	111	N>S		No	ClinGen ExAC gnomAD
CA6850953 rs759614978	112	I>T		No	ClinGen ExAC gnomAD
CA6850955 rs182805687	113	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6850954 rs770074345	113	R>W		No	ClinGen ExAC TOPMed gnomAD
CA6850956 rs763448852	115	I>F		No	ClinGen ExAC TOPMed gnomAD
rs764687556 CA6850957	115	I>M		No	ClinGen ExAC gnomAD
CA387083069 rs1566105000	115	I>T		No	ClinGen Ensembl
CA244785102 rs763448852	115	I>V		No	ClinGen ExAC TOPMed gnomAD
rs879628027 CA244785123	116	G>R		No	ClinGen Ensembl
CA387083091 rs1593869443	117	D>A		No	ClinGen Ensembl
rs372034414 CA244785128	117	D>E		No	ClinGen ESP
CA244785146 rs868615533 CA244785150	119	W>C		No	ClinGen TOPMed
rs145255391 CA6850986	124	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs757099141 CA6850987	125	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs375128048 CA6850988	125	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs375128048 CA387083515	125	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs745910954 CA6850989	126	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA387083518 rs1285835940	126	Y>H		No	ClinGen gnomAD
CA6850991 rs780289203	128	Q>E		No	ClinGen ExAC gnomAD
rs1555262332 CA387083542	130	V>L		No	ClinGen Ensembl
rs1222116951 CA387083552	131	N>I		No	ClinGen TOPMed gnomAD
rs1269856677 CA387083575	134	T>I		No	ClinGen gnomAD
rs1363245634 CA387083595	138	L>V		No	ClinGen gnomAD
rs774816650 CA6850994	139	T>I		No	ClinGen ExAC TOPMed gnomAD
rs774816650 CA387083602	139	T>N		No	ClinGen ExAC TOPMed gnomAD
rs1256109987 CA387083627	143	F>L		No	ClinGen Ensembl
rs748564101 CA6850995	144	H>Y		No	ClinGen ExAC gnomAD
rs1593871171 CA387083643	145	L>H		No	ClinGen Ensembl
TCGA novel	145	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1025463563 CA244787227	147	H>R		No	ClinGen TOPMed
CA387083720 rs1566106678	148	P>A		No	ClinGen Ensembl
CA6851139 rs767768224	149	Q>*		No	ClinGen ExAC gnomAD
CA387083774 rs1377878693	151	P>L		No	ClinGen TOPMed
CA387083788 rs151322438	152	A>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs756498572 CA6851141	152	A>T		No	ClinGen ExAC TOPMed gnomAD
rs151322438 CA6851142	152	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6851145 rs777096982	155	E>Q		No	ClinGen ExAC gnomAD
CA387083880 rs1383747284	159	E>D		No	ClinGen gnomAD
rs756935199 CA6851147	160	V>A		No	ClinGen ExAC gnomAD
CA244787254 rs917847594	160	V>I		No	ClinGen TOPMed
rs1406616095 CA387083935	163	K>R		No	ClinGen gnomAD
rs775359575 CA6851152	168	D>H		No	ClinGen ExAC TOPMed gnomAD
CA6851151 rs775359575	168	D>N		No	ClinGen ExAC TOPMed gnomAD
rs936418980 CA244787311	169	V>A		No	ClinGen TOPMed
CA244787333 rs1052635098	170	N>S		No	ClinGen TOPMed
rs140741256 CA6851154	171	N>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs754834475 CA6851191	174	Q>*		No	ClinGen ExAC gnomAD
CA387084171 rs1182719321	176	T>I		No	ClinGen TOPMed gnomAD
rs967385017 CA244787778	179	M>T		No	ClinGen Ensembl
rs1375587813 CA387084250	182	Y>S		No	ClinGen TOPMed
CA387084260 rs1295922037	183	M>L		No	ClinGen TOPMed
CA244787780 rs929314129	183	M>T		No	ClinGen TOPMed
rs1488388598 CA387084288	184	D>A		No	ClinGen TOPMed gnomAD
CA387084290 rs1488388598	184	D>G		No	ClinGen TOPMed gnomAD
CA6851193 rs748025115	185	C>R		No	ClinGen ExAC TOPMed gnomAD
CA6851194 rs772023242	185	C>S		No	ClinGen ExAC gnomAD
COSM936331 CA6851195 rs777793133	186	E>K	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs747150339 CA6851196	187	L>P		No	ClinGen ExAC gnomAD
CA387084379 rs1381937575	192	S>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1391293643 CA387084849	195	R>*		No	ClinGen gnomAD
rs746030162 CA6851219	195	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA244791258 rs1048436174	196	Q>H		No	ClinGen TOPMed gnomAD
rs201202945 CA6851221	199	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs769275103 CA6851223	200	A>T		No	ClinGen ExAC gnomAD
rs1004289379 CA244791263	201	I>V		No	ClinGen TOPMed
rs144603149 CA6851226	202	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA6851228 rs376195793	203	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA387084904 rs1384857749	204	S>F		No	ClinGen gnomAD
CA244791319 rs1036032838	205	Q>H		No	ClinGen TOPMed
CA244791318 rs1036982911	205	Q>L		No	ClinGen TOPMed gnomAD
CA387084919 rs1566108513	206	M>I		No	ClinGen Ensembl
CA387084925 rs1211225848	207	S>F		No	ClinGen gnomAD
rs1566108525 CA387084933	209	G>R		No	ClinGen Ensembl
rs1332627553 CA387084941	210	Q>R		No	ClinGen gnomAD
CA387084949 rs1403004086	211	C>Y		No	ClinGen gnomAD
rs758244444 CA6851232	212	R>C		No	ClinGen ExAC TOPMed gnomAD
CA6851233 rs138504921	212	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA6851234 rs138504921	212	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs758244444 CA387084954	212	R>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	214	A>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6851235 rs757154400	215	P>A		No	ClinGen ExAC gnomAD
rs757154400 CA6851236	215	P>S		No	ClinGen ExAC gnomAD
rs1486389542 CA387084991 COSM4136182	218	Q>H	pancreas [Cosmic]	No	ClinGen cosmic curated TOPMed
rs1258632887 CA387085008	221	Q>*		No	ClinGen gnomAD
CA6851240 rs780483576	222	D>A		No	ClinGen ExAC gnomAD
CA387085031 rs1483731179	224	S>G		No	ClinGen gnomAD
rs373188427 CA244791334	226	L>H		No	ClinGen Ensembl
CA6851243 rs371778022	230	T>M		No	ClinGen ESP ExAC gnomAD
rs995352885 CA244791362	232	K>R		No	ClinGen Ensembl
rs1349640668 CA387085115	236	K>R		No	ClinGen TOPMed
CA6851245 rs772489187	237	L>P		No	ClinGen ExAC TOPMed gnomAD
CA387085127 rs1336529424	238	H>R		No	ClinGen gnomAD
rs1566108648 CA387085125	238	H>Y		No	ClinGen Ensembl
rs759092227 CA6851247	240	C>R		No	ClinGen ExAC gnomAD
CA6851267 rs745375370	241	L>R		No	ClinGen ExAC TOPMed gnomAD
CA387085166 rs1279300453	242	P>L		No	ClinGen TOPMed
rs1281121564 CA387085163	242	P>S		No	ClinGen gnomAD
rs769222824 CA6851268	243	A>T		No	ClinGen ExAC gnomAD
rs191719039 CA6851269	243	A>V		No	ClinGen 1000Genomes ExAC gnomAD
rs768224131 CA6851271	245	T>I		No	ClinGen ExAC gnomAD
CA387085185 rs1321191520	246	L>V		No	ClinGen TOPMed
rs200151301 CA6851272	248	G>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA387085219 rs761560386	250	R>S		No	ClinGen ExAC TOPMed gnomAD
CA387085214 rs1229257541	250	R>T		No	ClinGen TOPMed
rs1422229602 CA387085234	251	D>E		No	ClinGen gnomAD
rs145314622 CA6851275	252	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA6851276 rs760702351	252	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs145314622 CA6851274	252	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA6851279 rs200700898	255	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs1311743916 CA387085327	258	H>Y		No	ClinGen gnomAD
rs753089024 CA6851281	259	S>T		No	ClinGen ExAC TOPMed gnomAD
rs754379342 CA6851305	260	L>F		No	ClinGen ExAC TOPMed gnomAD
rs1406690859 CA387085384	261	R>G		No	ClinGen TOPMed
CA387085405 rs747708374	262	N>K		No	ClinGen ExAC TOPMed
rs771885860 CA6851308	265	R>C		No	ClinGen ExAC TOPMed gnomAD
CA387085446 rs771885860	265	R>G		No	ClinGen ExAC TOPMed gnomAD
rs1319262164 CA387085448	265	R>H		No	ClinGen gnomAD
rs770982695 CA6851311	269	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA387085517 rs1190911874	270	M>I		No	ClinGen gnomAD
rs759518295 CA6851313	270	M>T		No	ClinGen ExAC TOPMed gnomAD
CA6851312 rs776495362	270	M>V		No	ClinGen ExAC TOPMed gnomAD
CA6851315 rs775658240	271	L>P		No	ClinGen ExAC gnomAD
rs763121106 CA6851316	272	Y>*		No	ClinGen ExAC gnomAD
CA387085576 rs1214580241	275	R>Q		No	ClinGen gnomAD
CA387085574 rs1593880694	275	R>W		No	ClinGen Ensembl
rs751899254 CA6851318	277	I>F		No	ClinGen ExAC gnomAD
CA6851320 rs767873296	278	Q>H		No	ClinGen ExAC gnomAD
CA6851319 rs370031826	278	Q>R		No	ClinGen ESP ExAC gnomAD
rs750838323 CA6851321	279	I>L		No	ClinGen ExAC gnomAD
CA387085622 rs1344377872	279	I>M		No	ClinGen TOPMed
CA6851322 COSM202681 rs756668419	281	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA244792484 rs934550383	281	R>W		No	ClinGen TOPMed gnomAD
CA6851324 rs374440993	284	E>K		No	ClinGen ExAC TOPMed gnomAD
CA387085782 rs1473662145	286	P>H		No	ClinGen TOPMed
CA387085786 rs1458914716	287	P>S		No	ClinGen gnomAD
rs926314031 CA244792730	288	N>D		No	ClinGen Ensembl
rs1390756437 CA387085799	288	N>T		No	ClinGen TOPMed gnomAD
rs1593881057 CA387085832	290	L>R		No	ClinGen Ensembl
rs749364683 CA6851352	291	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA387085834 rs1398670257	291	R>W		No	ClinGen gnomAD
rs1484419939 CA387085841	292	A>T		No	ClinGen Ensembl
rs774437296 CA6851355	296	A>V		No	ClinGen ExAC TOPMed gnomAD
rs772380417 CA6851357	298	H>Y		No	ClinGen ExAC gnomAD
CA6851358 rs773429443	300	K>Q		No	ClinGen ExAC gnomAD
rs761161357 CA6851359	301	P>L		No	ClinGen ExAC gnomAD
CA387085959 rs761161357	301	P>Q		No	ClinGen ExAC gnomAD
rs934497920 CA244792752	304	V>M		No	ClinGen TOPMed gnomAD
CA387085999 rs1351881171	305	I>V		No	ClinGen TOPMed
TCGA novel	307	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs374098037 CA6851364	307	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs1166943750 CA387086047	308	E>A		No	ClinGen TOPMed gnomAD
CA244792800 rs994751614	309	A>S		No	ClinGen TOPMed gnomAD
CA6851365 rs756825361	310	P>L		No	ClinGen ExAC gnomAD
rs1465538138 CA387086066	310	P>T		No	ClinGen gnomAD
CA387086080 rs1405099664	311	E>Q		No	ClinGen TOPMed
rs1173902701 CA387086093	312	D>N		No	ClinGen TOPMed
CA6851368 COSM4146771 rs367922574	315	P>L	thyroid Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA244792826 rs367922574	315	P>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1294551367 CA387086146	316	E>Q		No	ClinGen gnomAD
rs779717548 CA6851370	317	N>K		No	ClinGen ExAC gnomAD
TCGA novel	318	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6851372 rs184197853	319	I>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA387086227 rs1182978069	321	I>M		No	ClinGen TOPMed
rs1461217140 CA387086245	323	T>P		No	ClinGen TOPMed
CA387086252 rs1207691943	323	T>R		No	ClinGen gnomAD
CA6851374 rs778934790	325	P>S		No	ClinGen ExAC TOPMed gnomAD
CA387086264 rs778934790	325	P>T		No	ClinGen ExAC TOPMed gnomAD
CA387086275 rs1483680952	326	P>S		No	ClinGen gnomAD
TCGA novel	327	A>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6851376 rs772173203 COSM3398476	327	A>T	Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1018277361 CA244792940	327	A>V		No	ClinGen gnomAD
rs941087386 CA244792942	329	E>K		No	ClinGen TOPMed
TCGA novel	329	E>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs773554395 CA6851377	329	E>V		No	ClinGen ExAC gnomAD
CA6851378 rs747204142	330	P>L		No	ClinGen ExAC TOPMed gnomAD
CA6851392 rs754889481	332	V>G		No	ClinGen ExAC gnomAD
CA387086382 rs1450443094	332	V>M		No	ClinGen gnomAD
rs748175141 CA244793119	333	V>A		No	ClinGen ExAC TOPMed gnomAD
rs748175141 CA6851394	333	V>G		No	ClinGen ExAC TOPMed gnomAD
CA6851393 rs778883457	333	V>M		No	ClinGen ExAC gnomAD
CA244793161 rs1047657307	334	A>T		No	ClinGen Ensembl
rs768691201 CA244793163	335	D>A		No	ClinGen TOPMed
rs888646719 CA387086436	338	D>H		No	ClinGen TOPMed gnomAD
rs888646719 CA244793210 COSM936332	338	D>N	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA387086453 rs1158696617	339	Q>*		No	ClinGen gnomAD
CA387086469 rs1409517940	340	T>A		No	ClinGen gnomAD
CA244793212 rs770120535	340	T>M		No	ClinGen TOPMed gnomAD
CA387086494 rs1284197521	342	G>E		No	ClinGen TOPMed
CA387086493 rs1350341983	342	G>R		No	ClinGen gnomAD
rs1328994499 CA387086501	343	P>A		No	ClinGen gnomAD
CA387086505 rs1376488692	343	P>H		No	ClinGen gnomAD
CA387086499 rs1328994499	343	P>T		No	ClinGen gnomAD
CA6851396 rs536665725	344	P>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA387086515 rs536665725	344	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6851397 rs536665725	344	P>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1447765191 CA387086511	344	P>T		No	ClinGen gnomAD
rs1227742326 CA387086521	345	N>D		No	ClinGen gnomAD
rs1227742326 CA387086518	345	N>H		No	ClinGen gnomAD
rs149504879 CA6851399	345	N>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1442863063	345	N>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs149504879 VAR_070814 CA6851398	345	N>S		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA244793219 rs149504879	345	N>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA387086587 rs1467937133	350	D>V		No	ClinGen TOPMed
rs540398493 CA6851401	351	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1182077351 CA387086607	352	R>G		No	ClinGen gnomAD
rs1234189270 CA387086613	352	R>T		No	ClinGen gnomAD
CA6851419 rs781620959	353	D>N		No	ClinGen ExAC gnomAD
rs781620959 CA387087643	353	D>Y		No	ClinGen ExAC gnomAD
CA6851420 rs746229651	354	L>F		No	ClinGen ExAC TOPMed gnomAD
CA244794554 rs899929927	355	Q>H		No	ClinGen Ensembl
rs1052414391 CA244794556	356	I>L		No	ClinGen TOPMed
CA6851421 rs368348319	356	I>M		No	ClinGen ExAC TOPMed gnomAD
CA387087706 rs1354966351	356	I>N		No	ClinGen TOPMed gnomAD
CA387087738 rs780295925	358	S>G		No	ClinGen ExAC TOPMed gnomAD
CA6851422 rs780295925	358	S>R		No	ClinGen ExAC TOPMed gnomAD
CA387087787 rs1375711145	360	K>E		No	ClinGen gnomAD
rs1280064446 CA387087902	365	M>I		No	ClinGen gnomAD
rs1593882433 CA387087911	366	L>F		No	ClinGen Ensembl
CA387087925 rs868554228	367	R>C		No	ClinGen TOPMed gnomAD
CA6851425 rs772757888	367	R>H		No	ClinGen ExAC TOPMed gnomAD
CA244794562 rs868554228	367	R>S		No	ClinGen TOPMed gnomAD
rs1330879358 CA387087945	368	S>F		No	ClinGen gnomAD
rs539235773 CA6851426	368	S>P		No	ClinGen 1000Genomes ExAC gnomAD
CA244794571 rs144750833	369	E>K		No	ClinGen 1000Genomes gnomAD
rs1566110731 CA387087969	370	L>M		No	ClinGen Ensembl
rs997589456 CA244794573	371	E>K		No	ClinGen TOPMed gnomAD
CA387087982 rs997589456	371	E>Q		No	ClinGen TOPMed gnomAD
CA6851427 rs148689253	373	I>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs148689253 CA6851428	373	I>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1206822756 CA387088094	376	E>D		No	ClinGen gnomAD
rs1373553812 CA387088199	377	A>T		No	ClinGen gnomAD
rs1375045500 CA387088219	378	Q>R		No	ClinGen TOPMed gnomAD
rs574621096 CA6851452	379	R>G		No	ClinGen ExAC TOPMed gnomAD
rs769472217 CA6851454	379	R>L		No	ClinGen ExAC gnomAD
CA387088231 rs769472217	379	R>Q		No	ClinGen ExAC gnomAD
CA6851453 rs574621096	379	R>W		No	ClinGen ExAC TOPMed gnomAD
rs142842850 CA244794689	380	Y>H		No	ClinGen ESP TOPMed gnomAD
rs111460971 CA6851455	381	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs139835095 CA387088285	382	A>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs139835095 CA6851456	382	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1252132148 CA387088290	382	A>V		No	ClinGen TOPMed gnomAD
CA387088318 rs1381517711	383	Q>H		No	ClinGen TOPMed gnomAD
rs1180231950 CA387088330	384	L>P		No	ClinGen gnomAD
rs563208897 CA6851458	386	S>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs575177420 CA244794708	386	S>N		No	ClinGen 1000Genomes
CA387088380 rs1475859902	387	Q>*		No	ClinGen gnomAD
rs1267298749 CA387088397	387	Q>H		No	ClinGen Ensembl
rs1234006729 CA387088407	388	V>L		No	ClinGen TOPMed
rs761854913 CA6851459	389	N>S		No	ClinGen ExAC TOPMed gnomAD
CA387088482 rs1171520606	392	E>*		No	ClinGen gnomAD
rs767656245 CA6851460	392	E>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1374313225 CA387088507	393	G>D		No	ClinGen gnomAD
rs767736815 CA244794721	393	G>S		No	ClinGen gnomAD
rs200261171 CA6851462	396	E>G		No	ClinGen 1000Genomes ExAC gnomAD
CA387088573 rs1593883006	397	E>*		No	ClinGen Ensembl
CA387088570 rs1593883006	397	E>Q		No	ClinGen Ensembl
CA387088582 rs1593883017	397	E>V		No	ClinGen Ensembl
CA387088595 rs1566110995	398	Q>*		No	ClinGen Ensembl
rs1566110995 CA387088593	398	Q>E		No	ClinGen Ensembl
CA387088607 rs1295989216	398	Q>L		No	ClinGen gnomAD
CA387088624 rs754227440	399	R>L		No	ClinGen ExAC TOPMed gnomAD
rs754227440 CA387088622	399	R>P		No	ClinGen ExAC TOPMed gnomAD
rs754227440 CA6851466	399	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs375981044 CA6851465	399	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1279801104 CA387088647	401	Q>R		No	ClinGen gnomAD
rs145368193 CA387088661	402	K>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs370333645 CA6851467	402	K>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs779351725 CA6851468	402	K>R		No	ClinGen ExAC TOPMed gnomAD
rs758938997 CA6851470	403	Q>R		No	ClinGen ExAC gnomAD
CA6851471 rs780646392 CA6851472	404	K>N		No	ClinGen ExAC gnomAD
rs7972242 VAR_051029 CA244795458	404	K>Q		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1429998816 CA387088698	405	A>G		No	ClinGen gnomAD
rs536360023 CA387088692	405	A>S		No	ClinGen gnomAD
CA244794747 rs536360023	405	A>T		No	ClinGen gnomAD
rs1394037440 CA387088720	407	V>G		No	ClinGen gnomAD
rs373990390 CA6851474	408	D>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA244794765 rs760534339	409	N>D		No	ClinGen gnomAD
CA387088741 rs1314137201	409	N>T		No	ClinGen gnomAD
CA387088736 rs760534339	409	N>Y		No	ClinGen gnomAD
CA387088751 rs1429908738	410	E>K		No	ClinGen gnomAD
CA387088765 rs1289287120	411	Q>K		No	ClinGen gnomAD
CA6851476 rs151057125	412	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs774309671 CA6851477	413	R>C		No	ClinGen ExAC TOPMed gnomAD
COSM936335 CA244794790 rs144448351	413	R>H	endometrium [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs144448351 CA6851478	413	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1236647164 CA387088797	414	H>Y		No	ClinGen gnomAD
rs139811856 CA6851480	415	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA387088842 rs1230549470	421	A>P		No	ClinGen TOPMed
rs753951491 CA244794846	424	L>P		No	ClinGen ExAC TOPMed gnomAD
CA6851485 rs753951491	424	L>Q		No	ClinGen ExAC TOPMed gnomAD
rs1454423234 CA387088866	425	E>K		No	ClinGen gnomAD
rs1454423234 CA387088864	425	E>Q		No	ClinGen gnomAD
rs1377930447 CA387088874	426	G>D		No	ClinGen gnomAD
CA244794852 rs945381209	426	G>S		No	ClinGen gnomAD
CA6851488 rs753095694	427	E>K		No	ClinGen ExAC TOPMed gnomAD
CA6851489 rs753095694	427	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA6851490 rs778307156	428	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1346846167 CA387088884	428	R>W		No	ClinGen TOPMed gnomAD
rs745375325 CA6851492	429	S>N		No	ClinGen ExAC gnomAD
CA387088893 rs1372067669	429	S>R		No	ClinGen TOPMed gnomAD
CA387088895 rs755510855	430	Q>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs755510855 CA6851493	430	Q>E		No	ClinGen ExAC TOPMed gnomAD
rs779628492 CA6851494	431	G>A		No	ClinGen ExAC gnomAD
rs748843210 CA6851495	432	L>P		No	ClinGen ExAC gnomAD
CA6851496 COSM1359683 rs532716787	433	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
COSM936336 CA387088914 rs1286978062	433	R>H	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs778829746 CA6851497	436	A>V		No	ClinGen ExAC gnomAD
rs748014313 CA6851498	437	E>K		No	ClinGen ExAC TOPMed gnomAD
CA6851526 rs775625200	438	R>K		No	ClinGen ExAC TOPMed gnomAD
rs1195865676 CA387088974	440	A>G		No	ClinGen TOPMed
rs763178327 CA6851527	441	S>I		No	ClinGen ExAC gnomAD
rs764394770 CA6851528	442	A>G		No	ClinGen ExAC gnomAD
rs764394770 CA244795007 COSM1746818	442	A>V	urinary_tract [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs751985754 CA6851529	443	T>A		No	ClinGen ExAC TOPMed gnomAD
CA6851530 rs762195875	443	T>M		No	ClinGen ExAC gnomAD
CA387088996 rs1244876280	444	E>D		No	ClinGen gnomAD
rs530412548 COSM141405 CA6851533	445	A>V	upper_aerodigestive_tract [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA6851535 rs548641281	446	R>C		No	ClinGen 1000Genomes ExAC gnomAD
COSM1241257 CA387089005 rs1372273933	446	R>H	oesophagus [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs758152802 CA6851536	448	N>K		No	ClinGen ExAC gnomAD
CA6851537 rs777676281	449	K>Q		No	ClinGen ExAC gnomAD
CA387089036 rs1266602623	451	K>E		No	ClinGen gnomAD
CA387089066 rs1313527633	454	H>Q		No	ClinGen gnomAD
COSM1359684 rs933628388 CA244795045	455	S>G	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed
CA6851541 rs745800513	456	E>D		No	ClinGen ExAC TOPMed gnomAD
CA6851540 rs781261614	456	E>V		No	ClinGen ExAC gnomAD
rs769809738 CA6851542	458	V>I		No	ClinGen ExAC TOPMed gnomAD
CA387089095 rs1433259390	459	H>R		No	ClinGen gnomAD
rs1345239871 CA387089103	460	V>A		No	ClinGen gnomAD
CA6851544 rs749473077	461	H>Y		No	ClinGen ExAC gnomAD
rs762305144 CA6851549	462	A>E		No	ClinGen ExAC TOPMed gnomAD
rs774558277 CA6851547	462	A>T		No	ClinGen ExAC TOPMed gnomAD
rs762305144 CA6851548	462	A>V		No	ClinGen ExAC TOPMed gnomAD
rs764797872 CA6851552	463	E>*		No	ClinGen ExAC TOPMed gnomAD
CA387089127 rs1195013547	463	E>D		No	ClinGen TOPMed gnomAD
CA387089121 rs1476604266	463	E>V		No	ClinGen TOPMed
CA6851553 rs752292652	465	L>V		No	ClinGen ExAC gnomAD
CA244795108 rs1055091061	466	R>G		No	ClinGen Ensembl
TCGA novel	466	R>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs145838976 CA387089254	469	A>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs1593884191 CA387089249	469	A>S		No	ClinGen Ensembl
rs145838976 CA6851576 COSM1209677	469	A>V	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs1195344507 CA387089257	470	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA6851578 rs750260036	471	T>A		No	ClinGen ExAC gnomAD
rs140666234 CA6851579	476	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
COSM3710709 CA244795202 rs868673803	478	T>M	upper_aerodigestive_tract Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA387089378 rs1337014920	479	Q>P		No	ClinGen TOPMed
CA387089404 rs1460139960	481	S>G		No	ClinGen gnomAD
CA6851582 rs754992816	481	S>N		No	ClinGen ExAC TOPMed gnomAD
CA387089407 rs754992816	481	S>T		No	ClinGen ExAC TOPMed gnomAD
CA244795203 rs925285891	483	E>Q		No	ClinGen TOPMed
CA387089444 rs1396599527	484	E>K		No	ClinGen gnomAD
rs1411070122 CA387089454	484	E>V		No	ClinGen gnomAD
CA387089466 rs778880082	485	V>A		No	ClinGen ExAC TOPMed gnomAD
CA6851583 rs778880082	485	V>E		No	ClinGen ExAC TOPMed gnomAD
CA387089468 rs778880082	485	V>G		No	ClinGen ExAC TOPMed gnomAD
rs1311020388 CA387089460	485	V>M		No	ClinGen gnomAD
rs372462877 CA6851584	486	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
CA387089485 rs200563488	487	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6851587 rs200563488	487	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6851586 rs778175176	487	R>W		No	ClinGen ExAC TOPMed gnomAD
CA387089495 rs1593884356	488	V>G		No	ClinGen Ensembl
CA387089488 rs771556796	488	V>L		No	ClinGen ExAC gnomAD
rs771556796 CA6851588	488	V>M		No	ClinGen ExAC gnomAD
CA244795233 rs1001916864	489	K>Q		No	ClinGen TOPMed
CA6851590 rs199946215	490	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA244795237 rs199946215	490	E>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA387089557 rs1417811350	493	A>D		No	ClinGen gnomAD
CA387089561 COSM936337 rs1417811350	493	A>V	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs768166266 CA387089608	497	E>*		No	ClinGen ExAC TOPMed gnomAD
rs768166266 CA6851591	497	E>K		No	ClinGen ExAC TOPMed gnomAD
rs773766572 CA387089638	498	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs140185276 CA6851593	499	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs199708711 CA387089688	501	R>P		No	ClinGen 1000Genomes ExAC gnomAD
rs199708711 CA6851594	501	R>Q		No	ClinGen 1000Genomes ExAC gnomAD
rs1374823513 CA387089684	501	R>W		No	ClinGen gnomAD
rs369090994 CA387089697	502	E>*		No	ClinGen ESP ExAC gnomAD
rs1381384318 CA387089703	502	E>G		No	ClinGen gnomAD
rs369090994 CA6851595	502	E>K		No	ClinGen ESP ExAC gnomAD
rs1296586316 CA387089739	503	S>L		No	ClinGen TOPMed gnomAD
CA387089744 rs1232232686	504	E>K		No	ClinGen gnomAD
CA387089767 rs1279687270	505	L>F		No	ClinGen gnomAD
CA387089776 rs1349319655	506	K>T		No	ClinGen gnomAD
CA387089823 rs1459058048	507	L>V		No	ClinGen Ensembl
rs1418408132 CA387089860	509	E>D		No	ClinGen TOPMed gnomAD
CA387089847 rs1405752362	509	E>K		No	ClinGen gnomAD
rs770245608 CA6851610	510	K>E		No	ClinGen ExAC gnomAD
CA6851611 rs773891735	511	S>N		No	ClinGen ExAC gnomAD
CA6851613 rs77688072	512	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs760342830 CA244795451 CA6851615	513	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA387089928 rs1373324632	514	L>R		No	ClinGen gnomAD
rs1224818043 CA387089930	515	E>*		No	ClinGen gnomAD
CA6851616 rs532221873	515	E>A		No	ClinGen 1000Genomes ExAC gnomAD
CA387089934 rs1224818043	515	E>K		No	ClinGen gnomAD
CA6851618 rs7972242 VAR_051030	516	K>Q		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA387089994 rs1271605497	519	R>M		No	ClinGen TOPMed
rs530327463 CA6851622	523	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6851623 rs530327463	523	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA387090061 rs1293280582	524	K>N		No	ClinGen gnomAD
CA6851625 rs141706194	526	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA387090098 rs1182830340	527	E>D		No	ClinGen gnomAD
CA6851626 rs757588537	527	E>G		No	ClinGen ExAC TOPMed gnomAD
rs1163908812 CA387090114	529	A>T		No	ClinGen gnomAD
rs746269906 CA6851628	529	A>V		No	ClinGen ExAC TOPMed gnomAD
rs369699297 CA6851629	530	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs780494157 CA6851630	530	R>H		No	ClinGen ExAC TOPMed gnomAD
rs780494157 CA6851631	530	R>L		No	ClinGen ExAC TOPMed gnomAD
rs59499651 CA387090136	531	A>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs59499651 CA6851635	531	A>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs772737932 CA6851633	531	A>T		No	ClinGen ExAC TOPMed gnomAD
rs59499651 CA6851634	531	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA387090142 rs1187292254	532	Q>E		No	ClinGen gnomAD
rs759312297 CA6851637	532	Q>P		No	ClinGen ExAC gnomAD
rs1294268248 CA387090169	533	E>D		No	ClinGen TOPMed gnomAD
CA387090163 rs1263829885	533	E>G		No	ClinGen gnomAD
rs1309643094 CA387090155	533	E>K		No	ClinGen TOPMed
CA244795524 rs865857876	536	S>R		No	ClinGen Ensembl
rs1214340942 CA387090213	537	H>R		No	ClinGen TOPMed
rs1229681199 CA387090223	538	T>A		No	ClinGen gnomAD
CA387090229 rs1270377822	538	T>I		No	ClinGen TOPMed gnomAD
rs1345542990 CA387090240	539	E>D		No	ClinGen TOPMed
rs775237120 CA387090234	539	E>K		No	ClinGen ExAC TOPMed gnomAD
rs775237120 CA6851639	539	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA6851663 rs201029071	543	S>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs766620027 CA6851664	546	S>T		No	ClinGen ExAC gnomAD
CA387090392 rs1299280284	547	S>L		No	ClinGen gnomAD
COSM3416573 CA6851667 rs368659941	548	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs371812138 CA6851666	548	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1346996005 CA387090414	550	D>N		No	ClinGen gnomAD
rs756695315 CA6851670	551	T>M		No	ClinGen ExAC TOPMed gnomAD
rs756695315 CA387090436	551	T>R		No	ClinGen ExAC TOPMed gnomAD
rs1566112425 CA387090431	551	T>S		No	ClinGen Ensembl
rs890584794 CA244795708	554	A>V		No	ClinGen TOPMed gnomAD
CA387090499 rs1199635639	556	K>R		No	ClinGen gnomAD
CA387090507 rs1469044583	557	D>H		No	ClinGen gnomAD
rs963179252 CA244795728	558	A>G		No	ClinGen Ensembl
CA6851671 rs371136554	559	L>P		No	ClinGen ESP ExAC TOPMed
CA387090543 rs1158424022	560	S>N		No	ClinGen gnomAD
rs766543810 CA244795739 CA387090580	563	V>L		No	ClinGen Ensembl
CA387090587 rs140743610	564	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs368392512 CA6851674	564	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs140743610 CA6851673	564	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1385769641 CA387090599	565	Q>*		No	ClinGen gnomAD
rs759599791 CA387090613	566	R>P		No	ClinGen ExAC TOPMed gnomAD
rs759599791 CA6851676	566	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs749155510 CA6851675	566	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA387090622 rs1287572295	567	E>*		No	ClinGen gnomAD
CA387090668 rs1271551927	570	L>P		No	ClinGen gnomAD
rs368370835 CA6851678	572	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs761856927 CA6851679	573	A>V		No	ClinGen ExAC gnomAD
rs1413283188 CA387090705	574	Q>*		No	ClinGen gnomAD
rs1413283188 CA387090703	574	Q>E		No	ClinGen gnomAD
CA244795785 rs1042588477	575	S>G		No	ClinGen Ensembl
rs917333616 CA244795786	575	S>N		No	ClinGen TOPMed
rs1163189710 CA387090757	577	V>A		No	ClinGen gnomAD
rs1163189710 CA387090759	577	V>G		No	ClinGen gnomAD
CA244795787 rs902790122	578	R>C		No	ClinGen TOPMed gnomAD
rs773380838 CA6851681	578	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1318949921 CA387090783	579	E>G		No	ClinGen TOPMed
rs1293676633 CA387090772	579	E>K		No	ClinGen TOPMed gnomAD
rs1293676633 CA387090774	579	E>Q		No	ClinGen TOPMed gnomAD
CA387090796 rs1453383140	580	T>I		No	ClinGen TOPMed gnomAD
TCGA novel	581	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs150109184 CA6851683	582	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA244795792 rs895339695	583	A>T		No	ClinGen TOPMed gnomAD
CA244795802 rs1012332938	583	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA387090921 rs970720668	586	R>P		No	ClinGen TOPMed gnomAD
CA244795810 rs970720668	586	R>Q		No	ClinGen TOPMed gnomAD
rs375737707 CA6851684	586	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA244795812 rs1004901169	587	E>Q		No	ClinGen Ensembl
CA244795815 rs1014827064	589	Q>E		No	ClinGen TOPMed gnomAD
rs1337562317 CA387090988	589	Q>H		No	ClinGen TOPMed gnomAD
CA6851685 rs200912006	590	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs765595905 CA6851686 COSM3384112	590	R>H	pancreas [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA387091007 rs1484311202	591	S>C		No	ClinGen gnomAD
CA387091010 rs1186326454	591	S>N		No	ClinGen gnomAD
rs568239694 CA6851687	593	Q>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs568239694 CA387091040	593	Q>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs758938875 CA6851688	594	E>G		No	ClinGen ExAC TOPMed gnomAD
CA244795832 rs945069316	595	Q>P		No	ClinGen TOPMed gnomAD
CA387091072 rs945069316	595	Q>R		No	ClinGen TOPMed gnomAD
CA387091082 rs1460060934	596	G>S		No	ClinGen gnomAD
rs1167388670 CA387091097	597	E>K		No	ClinGen gnomAD
rs1371149801 CA387091151	599	Q>H		No	ClinGen TOPMed gnomAD
CA387091140 rs1232621994	599	Q>K		No	ClinGen TOPMed
CA244795839 rs973352416	600	G>D		No	ClinGen Ensembl
CA387091178 rs537676507	601	R>L		No	ClinGen ExAC TOPMed gnomAD
rs537676507 CA387091176	601	R>P		No	ClinGen ExAC TOPMed gnomAD
rs537676507 CA6851689	601	R>Q		No	ClinGen ExAC TOPMed gnomAD
COSM1359685 rs185463143 CA244795842	601	R>W	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes NCI-TCGA TOPMed gnomAD
CA387091217 rs1330273382	603	A>V		No	ClinGen TOPMed
rs1315148736 CA387091242	604	E>D		No	ClinGen TOPMed gnomAD
rs1396341739 CA387091223	604	E>Q		No	ClinGen gnomAD
CA387091243 rs1593886241	605	R>G		No	ClinGen Ensembl
rs1324882206 CA387091245	605	R>K		No	ClinGen TOPMed gnomAD
rs1221438105 CA387091513	608	Q>P		No	ClinGen gnomAD
rs749898084 CA6851711	611	G>R		No	ClinGen ExAC gnomAD
CA6851713 rs369312749	613	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs753493991 CA244796507	613	R>P		No	ClinGen ExAC TOPMed gnomAD
rs753493991 CA6851714	613	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA6851712 rs369312749	613	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs754716825 CA6851715	616	L>P		No	ClinGen ExAC TOPMed gnomAD
rs957101714 CA244796546	618	D>G		No	ClinGen TOPMed gnomAD
CA244796543 rs372809101	618	D>H		No	ClinGen Ensembl
rs746930045 CA6851720	619	E>A		No	ClinGen ExAC gnomAD
CA6851719 rs79610396	619	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA387091596 rs776720047	621	F>L		No	ClinGen ExAC TOPMed gnomAD
rs770053037 CA6851724	622	A>E		No	ClinGen ExAC gnomAD
CA6851723 rs746062457	622	A>T		No	ClinGen ExAC TOPMed gnomAD
rs202046624 CA6851726	623	V>L		No	ClinGen 1000Genomes ExAC gnomAD
rs202046624 CA6851725	623	V>M		No	ClinGen 1000Genomes ExAC gnomAD
rs527467280 CA6851728	625	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs527467280 CA6851729	625	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs117866676 COSM1746819 RCV000888009 CA6851727	625	R>W	urinary_tract [Cosmic]	No	ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA387091634 rs1330857436	626	G>C		No	ClinGen gnomAD
rs1199023319 CA387091636	626	G>D		No	ClinGen gnomAD
rs753446845 CA6851731	627	A>T		No	ClinGen ExAC TOPMed gnomAD
CA6851732 rs754663788	628	A>P		No	ClinGen ExAC gnomAD
CA244796622 rs920789965	628	A>V		No	ClinGen Ensembl
CA387091670 rs1223076858	629	A>V		No	ClinGen gnomAD
CA6851735 rs752398981	630	E>*		No	ClinGen ExAC TOPMed gnomAD
rs1182716317 CA387091682	630	E>D		No	ClinGen TOPMed gnomAD
COSM1359686 rs752398981 CA6851734	630	E>K	large_intestine Variant assessed as Somatic; 0.0001069 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs757185118 CA6851738	632	A>T		No	ClinGen ExAC TOPMed gnomAD
CA6851739 rs376717149 COSM415978	632	A>V	Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs139795389 CA6851741	633	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1166776103 CA387091719	634	I>V		No	ClinGen gnomAD
rs780183840 CA6851742	635	L>V		No	ClinGen ExAC gnomAD
CA6851743 rs749486256	636	Q>*		No	ClinGen ExAC gnomAD
CA244796639 rs867653929	638	A>V		No	ClinGen Ensembl
CA6851744 rs143817916	639	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1283269051 CA387091791	640	S>N		No	ClinGen TOPMed gnomAD
rs1379405461 CA387091804	641	K>*		No	ClinGen gnomAD
rs1379405461 CA387091800	641	K>Q		No	ClinGen gnomAD
CA6851746 rs368827806	643	D>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs1205800021 CA387091846	644	D>E		No	ClinGen TOPMed gnomAD
CA6851748 rs776276941	644	D>N		No	ClinGen ExAC TOPMed gnomAD
rs1040668134 CA244796658	647	H>R		No	ClinGen Ensembl
CA387091873 rs1276625210	647	H>Y		No	ClinGen gnomAD
CA6851749 rs550144555	648	L>V		No	ClinGen 1000Genomes ExAC gnomAD
CA244796673 rs937548167	649	R>C		No	ClinGen TOPMed gnomAD
CA387091890 rs937548167	649	R>G		No	ClinGen TOPMed gnomAD
CA6851750 rs764849130	649	R>H		No	ClinGen ExAC gnomAD
CA6851751 rs752340891	650	C>F		No	ClinGen ExAC TOPMed gnomAD
CA387091921 rs1369239444	651	T>I		No	ClinGen TOPMed
CA6851754 rs751363986	653	S>C		No	ClinGen ExAC TOPMed gnomAD
rs757175512 CA6851755	654	P>A		No	ClinGen ExAC gnomAD
CA6851780 rs778935350	657	L>V		No	ClinGen ExAC TOPMed gnomAD
CA387092044 rs1346891435	658	V>A		No	ClinGen gnomAD
CA387092042 rs1346891435	658	V>E		No	ClinGen gnomAD
CA6851781 rs748415185	659	S>N		No	ClinGen ExAC gnomAD
CA6851782 rs758783792	660	R>K		No	ClinGen ExAC gnomAD
rs910652872 CA244796791	661	A>S		No	ClinGen Ensembl
rs1210735012 CA387092082	661	A>V		No	ClinGen gnomAD
rs747484838 CA6851784	663	E>K		No	ClinGen ExAC TOPMed gnomAD
CA6851785 rs375880257	664	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	664	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA244796805 rs199861869	665	L>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs199861869 CA6851786	665	L>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1158856257 CA387092131	666	D>N		No	ClinGen gnomAD
rs866580342 CA244796809	667	A>V		No	ClinGen TOPMed gnomAD
rs773821606 CA387092156	668	V>A		No	ClinGen ExAC TOPMed gnomAD
rs773821606 CA6851789	668	V>E		No	ClinGen ExAC TOPMed gnomAD
rs773821606 CA387092158	668	V>G		No	ClinGen ExAC TOPMed gnomAD
CA6851788 rs199611460	668	V>M		No	ClinGen ExAC gnomAD
CA387092200 rs1287475506	672	E>G		No	ClinGen gnomAD
rs1329519440 CA387092223	673	E>D		No	ClinGen gnomAD
rs1566113746 CA387092228 COSM936339	674	G>D	endometrium [Cosmic]	No	ClinGen cosmic curated Ensembl
rs934572633 CA244796825	675	H>Y		No	ClinGen TOPMed gnomAD
CA6851792 rs190046269	676	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA387092253 rs1210472707	676	A>V		No	ClinGen gnomAD
CA6851795 rs375460235	677	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA6851794 rs766292670	677	Q>K		No	ClinGen ExAC gnomAD
CA387092268 rs1252998276	678	Y>D		No	ClinGen gnomAD
rs754954664 CA6851796	680	T>I		No	ClinGen ExAC TOPMed gnomAD
rs754954664 CA6851797	680	T>N		No	ClinGen ExAC TOPMed gnomAD
rs758730901 CA6851799	681	S>F		No	ClinGen ExAC gnomAD
CA387092304 rs1555263551	681	S>T		No	ClinGen Ensembl
CA387092352 rs1163309288	683	A>V		No	ClinGen gnomAD
rs568357520 CA387093374	684	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6851831 rs770587189	685	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
COSM3670118 rs759367299 CA6851833	687	A>T	central_nervous_system [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs769825230 CA6851834	687	A>V		No	ClinGen ExAC TOPMed gnomAD
CA387093441 rs1386692326	689	V>M		No	ClinGen gnomAD
CA387093459 rs1321284506	690	A>T		No	ClinGen gnomAD
CA387093470 rs1364784276	690	A>V		No	ClinGen gnomAD
CA6851836 rs763062728	694	R>C		No	ClinGen ExAC TOPMed gnomAD
CA6851837 rs547357054	694	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA244797253 rs547357054	694	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA387093544 rs1264669743	695	F>L		No	ClinGen gnomAD
rs199595596 CA6851838	695	F>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6851839 rs199595596	695	F>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs767743361 CA387093597	698	L>P		No	ClinGen ExAC gnomAD
CA6851840 rs767743361	698	L>Q		No	ClinGen ExAC gnomAD
CA387093593 rs767743361	698	L>R		No	ClinGen ExAC gnomAD
CA6851842 rs756568044	700	A>T		No	ClinGen ExAC gnomAD
rs1189427074 CA387093632	700	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
TCGA novel	701	D>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA387093650 rs1593888976	701	D>G		No	ClinGen Ensembl
CA6851844 rs754355546	701	D>N		No	ClinGen ExAC TOPMed gnomAD
rs1593888979 CA387093660	702	T>P		No	ClinGen Ensembl
rs371060995 CA6851847	705	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6851848 rs770662970	706	G>S		No	ClinGen ExAC gnomAD
rs1293497965 CA387093761	707	G>A		No	ClinGen gnomAD
rs1434346109 CA387093753	707	G>R		No	ClinGen TOPMed gnomAD
CA387093752 rs1434346109	707	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA6851850 rs745739822	708	A>T		No	ClinGen ExAC
CA244797340 rs539146287	710	S>L		No	ClinGen 1000Genomes TOPMed gnomAD
CA244797343 rs371198552	711	H>Y		No	ClinGen Ensembl
rs557436940 CA387093862	712	L>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6851854 rs768821354	716	D>N		No	ClinGen ExAC gnomAD
CA6851857 rs767839373	719	D>N		No	ClinGen ExAC TOPMed gnomAD
rs767839373 CA387093986	719	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs750750674 CA387094005	720	R>C		No	ClinGen ExAC TOPMed gnomAD
rs750750674 CA6851858	720	R>G		No	ClinGen ExAC TOPMed gnomAD
rs766962277 CA6851896	720	R>P		No	ClinGen ExAC gnomAD
rs750750674 CA6851859	720	R>S		No	ClinGen ExAC TOPMed gnomAD
CA6851897 rs750056510	722	I>T		No	ClinGen ExAC TOPMed gnomAD
CA6851898 rs755875417	723	D>H		No	ClinGen ExAC gnomAD
CA6851899 rs779973962	724	T>A		No	ClinGen ExAC TOPMed gnomAD
rs1445364580 CA387094119	724	T>I		No	ClinGen gnomAD
TCGA novel	725	C>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs749157536 CA6851900	725	C>S		No	ClinGen ExAC gnomAD
CA387094129 rs1247493163	726	R>K		No	ClinGen gnomAD
rs1341354548 CA387094140	727	E>D		No	ClinGen gnomAD
rs376345720 CA6851901	727	E>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6851902 rs374104594	728	C>R		No	ClinGen ESP ExAC gnomAD
CA6851904 rs756613905	729	G>R		No	ClinGen ExAC TOPMed gnomAD
rs773201634 CA6851905	730	A>P		No	ClinGen ExAC gnomAD
CA244797487 rs771199833	731	R>L		No	ClinGen ExAC TOPMed gnomAD
rs771199833 CA6851907	731	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA6851906 rs747209447	731	R>W		No	ClinGen ExAC TOPMed gnomAD
CA387094161 rs1390168129	732	A>T		No	ClinGen gnomAD
rs1593889444 CA387094167	733	L>V		No	ClinGen Ensembl
COSM1135331 rs1170082150 CA387094175	734	E>G	kidney [Cosmic]	No	ClinGen cosmic curated gnomAD
CA387094181 rs1566114341	735	L>F		No	ClinGen Ensembl
rs1192026327 CA387094185	736	M>L		No	ClinGen TOPMed gnomAD
rs1335711361 CA387094189	736	M>T		No	ClinGen gnomAD
rs1192026327 CA387094186	736	M>V		No	ClinGen TOPMed gnomAD
rs759827525 CA6851909	739	L>V		No	ClinGen ExAC TOPMed gnomAD
CA6851911 rs765535771	740	Q>E		No	ClinGen ExAC gnomAD
CA6851910 rs765535771	740	Q>K		No	ClinGen ExAC gnomAD
rs866825410 CA244797507	741	D>E		No	ClinGen gnomAD
rs1266933407 CA387094221	741	D>G		No	ClinGen TOPMed gnomAD
CA387094235 rs1431402265	743	Q>*		No	ClinGen gnomAD
rs767023243 CA6851913	744	A>S		No	ClinGen ExAC gnomAD
CA244797519 rs767023243	744	A>T		No	ClinGen ExAC gnomAD
rs1342648121 CA387094244	744	A>V		No	ClinGen gnomAD
CA6851916 RCV000897083 rs371380314	746	R>Q		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs760394973 CA6851915 COSM936343	746	R>W	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs754768189 CA6851918	747	H>R		No	ClinGen ExAC gnomAD
rs199806095 CA6851917	747	H>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1566114391 CA387094261	748	M>V		No	ClinGen Ensembl
rs1195887723 CA387094269	749	Q>*		No	ClinGen TOPMed
TCGA novel	750	A>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6851919 rs778601872	751	S>R		No	ClinGen ExAC TOPMed gnomAD
CA6851920 rs752645447	752	L>P		No	ClinGen ExAC TOPMed gnomAD
CA387094297 rs1177582462	753	V>A		No	ClinGen gnomAD
CA387094295 rs1477932667	753	V>M		No	ClinGen gnomAD
CA244797608 rs758312684	754	R>G		No	ClinGen ExAC TOPMed gnomAD
rs373589356 CA6851922	754	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs758312684 CA6851921	754	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1156420589 CA387094306	755	T>R		No	ClinGen gnomAD
rs771001493 CA6851924	756	P>H		No	ClinGen ExAC TOPMed gnomAD
rs747158091 CA6851923	756	P>T		No	ClinGen ExAC gnomAD
CA387094320 rs1268243649	758	Q>R		No	ClinGen TOPMed
CA244797622 rs865971140	759	G>D		No	ClinGen gnomAD
CA6851925 rs781331033	759	G>S		No	ClinGen ExAC gnomAD
rs1372032131 CA387094333	760	I>M		No	ClinGen TOPMed
rs746112372 CA6851926	760	I>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	761	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA387094335 rs1226811401	761	L>V		No	ClinGen TOPMed gnomAD
rs1267691020 CA387094345	762	Q>L		No	ClinGen gnomAD
rs1555263673 CA387094353	764	G>S		No	ClinGen Ensembl
rs867966807 CA244797623	765	Q>H		No	ClinGen Ensembl
rs1351535455 COSM1299050 CA387094363	765	Q>L	urinary_tract [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs756359180 CA6851973	766	E>*		No	ClinGen ExAC gnomAD
rs12580585 CA6851975	773	D>N		No	ClinGen ExAC gnomAD
rs922306090 CA244797963	773	D>V		No	ClinGen Ensembl
CA244797955 rs12580585	773	D>Y		No	ClinGen ExAC gnomAD
rs542797826 CA6851978	775	R>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA6851977 rs575784864	775	R>W		No	ClinGen 1000Genomes ExAC gnomAD
rs1197211020 CA387094451	777	E>D		No	ClinGen gnomAD
rs1593890098 CA387094448	777	E>G		No	ClinGen Ensembl
rs1593890106 CA387094456	778	E>G		No	ClinGen Ensembl
rs561919239 CA6851979	778	E>Q		No	ClinGen 1000Genomes ExAC gnomAD
rs776272882 CA6851980	779	L>P		No	ClinGen ExAC TOPMed gnomAD
rs1387081903 CA387094472	781	A>S		No	ClinGen gnomAD
rs1387081903 CA387094470	781	A>T		No	ClinGen gnomAD
VAR_020043 CA6851982 rs2271051	782	V>M		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1593890133 CA387094481	783	V>I		No	ClinGen Ensembl
rs1373450880 CA387094489	784	D>N		No	ClinGen TOPMed gnomAD
rs762699743 CA387094496	785	K>*		No	ClinGen ExAC TOPMed gnomAD
CA6851984 rs762699743	785	K>E		No	ClinGen ExAC TOPMed gnomAD
rs76462677 CA6851985	788	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs761724989 CA6851987	789	A>V		No	ClinGen ExAC TOPMed gnomAD
CA387094545 rs1338778422	790	T>A		No	ClinGen gnomAD
CA6851988 rs767513078	790	T>I		No	ClinGen ExAC gnomAD
rs1169509828 CA387094556	791	S>P		No	ClinGen TOPMed
CA6851991 rs559238917	792	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6851992 rs146629942	792	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs755296597 CA6851993	794	I>L		No	ClinGen ExAC gnomAD
rs905926222 CA244798072	794	I>T		No	ClinGen Ensembl
rs532740736 CA6851996	799	R>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA6851995 rs141465193	799	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs758837319 CA6851997	800	R>K		No	ClinGen ExAC gnomAD
CA6851998 rs778366028	801	I>T		No	ClinGen ExAC gnomAD
TCGA novel	803	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs776434663 CA6852030	804	M>T		No	ClinGen ExAC gnomAD
rs1290896169 CA387095037	805	M>I		No	ClinGen gnomAD
rs1220194495 CA387095035	805	M>R		No	ClinGen TOPMed gnomAD
rs1220194495 CA387095033	805	M>T		No	ClinGen TOPMed gnomAD
CA387095057 rs759630261	807	Q>*		No	ClinGen ExAC TOPMed gnomAD
rs759630261 CA6852031	807	Q>E		No	ClinGen ExAC TOPMed gnomAD
rs994231058 CA244799580	808	A>G		No	ClinGen TOPMed
CA6852032 rs765429191	808	A>S		No	ClinGen ExAC gnomAD
CA387095067 rs765429191	808	A>T		No	ClinGen ExAC gnomAD
rs752926145 CA6852033	809	R>C	Variant assessed as Somatic; 4.622e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA6852034 rs748671805	809	R>H		No	ClinGen ExAC TOPMed gnomAD
CA6852036 rs144867165	811	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6852037 rs1181089456	813	S>L	Variant assessed as Somatic; 0.0002311 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1163549576 CA387095147	814	G>E		No	ClinGen gnomAD
CA6852040 rs781675423	815	V>M		No	ClinGen ExAC gnomAD
CA387095189 rs1441044827	818	E>G		No	ClinGen gnomAD
CA6852042 rs754439490	818	E>K		No	ClinGen ExAC gnomAD
TCGA novel	818	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6852043 rs200921957	819	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6852044 rs747771216	820	N>S		No	ClinGen ExAC TOPMed gnomAD
rs777422895 CA6852046	821	E>K		No	ClinGen ExAC gnomAD
rs757873697 CA387095260	822	R>S		No	ClinGen ExAC TOPMed gnomAD
rs751192236 CA6852085	824	L>V		No	ClinGen ExAC gnomAD
CA6852088 rs745726005	825	N>D		No	ClinGen ExAC gnomAD
rs755977591 CA6852089	825	N>I		No	ClinGen ExAC TOPMed gnomAD
rs755977591 CA387095281	825	N>S		No	ClinGen ExAC TOPMed gnomAD
rs755977591 CA387095279	825	N>T		No	ClinGen ExAC TOPMed gnomAD
CA387095290 rs1409664823	826	S>P		No	ClinGen TOPMed
CA6852091 rs749209250	828	T>A		No	ClinGen ExAC gnomAD
rs768745054 CA6852092	828	T>I		No	ClinGen ExAC gnomAD
CA387095360 rs1593891152	831	M>I		No	ClinGen Ensembl
CA6852093 rs778902393 COSM936344	832	K>E	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1424318712 CA387095374	832	K>N		No	ClinGen TOPMed
CA387095428 rs1264157696	834	I>L		No	ClinGen TOPMed
CA387095437 rs1392537662	834	I>S		No	ClinGen gnomAD
CA6852116 rs368260275	835	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs777920361 CA6852115	835	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1593891345 CA387095450	836	L>V		No	ClinGen Ensembl
CA6852117 rs149034848	838	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA387095470 rs149034848	838	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1386797829 CA387095502	840	T>I		No	ClinGen TOPMed
CA387095493 rs1593891367	840	T>P		No	ClinGen Ensembl
rs1032869225 CA244800273	841	S>C		No	ClinGen TOPMed gnomAD
rs760073892 CA6852119	843	S>G		No	ClinGen ExAC TOPMed gnomAD
CA387095532 rs1247266495	843	S>T		No	ClinGen gnomAD
rs992978126 CA244800285	845	Q>R		No	ClinGen Ensembl
rs751385565	846	K>missing	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs776069233 CA6852123	846	K>E		No	ClinGen ExAC TOPMed
rs1437956848 CA387095585	847	E>A		No	ClinGen gnomAD
rs1218703094 CA387095579	847	E>K		No	ClinGen gnomAD
CA387095610 rs1241275512	849	V>L		No	ClinGen TOPMed gnomAD
CA387095613 rs1241275512	849	V>M		No	ClinGen TOPMed gnomAD
CA244800289 rs982867397	850	E>A		No	ClinGen Ensembl
CA387095646 rs1443940136	851	S>R		No	ClinGen TOPMed gnomAD
CA244800294 rs867069120	852	G>S		No	ClinGen gnomAD
rs767159723 CA6852125	853	R>K		No	ClinGen ExAC TOPMed gnomAD
rs1167604044 CA387095669 CA387095670	853	R>S		No	ClinGen gnomAD
rs767159723 CA387095665	853	R>T		No	ClinGen ExAC TOPMed gnomAD
CA387095769 rs1300011040	857	T>M		No	ClinGen TOPMed
rs1388074996 CA387095777	858	Q>*		No	ClinGen TOPMed
CA387095804 rs1392019635	860	E>K		No	ClinGen TOPMed
CA6852156 rs757332368	861	F>C		No	ClinGen ExAC gnomAD
rs1362881983 CA387095851	863	A>T		No	ClinGen gnomAD
rs962749776 CA244800531	866	S>L		No	ClinGen TOPMed gnomAD
CA6852160 rs201693330	867	R>C		No	ClinGen 1000Genomes ExAC gnomAD
CA6852161 rs780511039	867	R>H		No	ClinGen ExAC TOPMed gnomAD
rs746458127 CA6852165	870	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs746458127 CA6852166	870	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs759270698 CA6852168	873	I>F		No	ClinGen ExAC gnomAD
rs1593891909 CA387096046	874	S>A		No	ClinGen Ensembl
rs138744947 CA6852169	874	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs200961297 CA6852170	875	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA387096063 rs1488933400	875	A>V		No	ClinGen gnomAD
CA387096088 rs1566115667	877	K>E		No	ClinGen Ensembl
rs763950911 CA6852172	878	A>T		No	ClinGen ExAC TOPMed gnomAD
CA387096254 rs1364700016	884	T>I		No	ClinGen TOPMed
rs750581774 CA387096260	885	Q>*		No	ClinGen ExAC gnomAD
rs750581774 CA6852177	885	Q>K		No	ClinGen ExAC gnomAD
CA387096270 rs1366518660	885	Q>R		No	ClinGen gnomAD
CA6852179 rs756410586	886	L>M		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	887	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1219510747 CA387096448	889	A>V		No	ClinGen gnomAD
rs764602345 CA387096499 COSM161526	892	K>R	breast [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs764602345 CA6852233	892	K>T		No	ClinGen ExAC TOPMed gnomAD
rs752029390 CA6852234	893	V>A		No	ClinGen ExAC TOPMed gnomAD
CA387096525 rs1208726655	894	V>L		No	ClinGen TOPMed
CA387096567 rs1593892330	896	H>Y		No	ClinGen Ensembl
rs867780076 CA244800988	897	T>A		No	ClinGen Ensembl
rs1214204438 CA387096605	897	T>M		No	ClinGen gnomAD
CA6852239 rs199554507	898	G>S		No	ClinGen ExAC TOPMed gnomAD
rs776999646 CA244801036	898	G>V		No	ClinGen TOPMed
CA387096640 rs1425302547	899	K>R		No	ClinGen gnomAD
CA387096669 rs771780896	900	Y>*		No	ClinGen ExAC gnomAD
CA387096661 rs1171484674	900	Y>C		No	ClinGen gnomAD
rs773157357 CA387096698	902	E>*		No	ClinGen ExAC gnomAD
CA6852243 rs773157357	902	E>Q		No	ClinGen ExAC gnomAD
rs746956703 CA6852244	904	I>V		No	ClinGen ExAC gnomAD
rs776905746 CA387096753	905	V>F		No	ClinGen ExAC TOPMed gnomAD
rs776905746 CA6852246	905	V>I		No	ClinGen ExAC TOPMed gnomAD
rs564990164 CA6852247	906	C>Y		No	ClinGen 1000Genomes ExAC gnomAD
rs375994180 CA387096831	908	H>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA6852250 rs138195638	909	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs141813189 CA6852252	911	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA244801083 rs1054888664	911	A>V		No	ClinGen Ensembl
CA6852253 rs530318995	912	A>G		No	ClinGen 1000Genomes ExAC gnomAD
CA244801092 rs747135026	914	T>A		No	ClinGen Ensembl
CA244801099 rs768825387	914	T>M		No	ClinGen gnomAD
rs1413364681 CA387096931	915	A>G		No	ClinGen TOPMed
rs1197656090 CA387096942	916	Q>*		No	ClinGen gnomAD
TCGA novel	918	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6852255 rs753415008	918	V>L		No	ClinGen ExAC gnomAD
rs1379597769 CA387096986	919	A>T		No	ClinGen gnomAD
rs1420147837 CA387096994	919	A>V		No	ClinGen TOPMed gnomAD
CA6852283 rs781225988	923	V>M		No	ClinGen ExAC gnomAD
rs745831920 CA6852284	925	A>P		No	ClinGen ExAC gnomAD
CA387097626 rs745831920	925	A>T		No	ClinGen ExAC gnomAD
rs1460651363 CA387097630	925	A>V		No	ClinGen TOPMed
CA6852285 rs569072498	927	K>M		No	ClinGen 1000Genomes ExAC gnomAD
CA387097646 rs1379487750	928	H>N		No	ClinGen TOPMed
CA387097657 rs1467667335	929	S>N		No	ClinGen gnomAD
CA6852286 rs780046845	929	S>R		No	ClinGen ExAC gnomAD
CA244801287 rs763568934	930	P>L		No	ClinGen Ensembl
CA244801279 rs765023893	930	P>S		No	ClinGen Ensembl
rs749514313 CA6852288	931	H>N		No	ClinGen ExAC TOPMed gnomAD
rs774563475 CA6852289	931	H>Q		No	ClinGen ExAC gnomAD
rs749514313 CA6852287	931	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA387097672 rs1566116156	932	L>Q		No	ClinGen Ensembl
CA387097678 rs1315095497	933	S>N		No	ClinGen gnomAD
rs200832097 CA6852290	934	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA387097685 rs1277362754	934	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA6852291 rs150590129	936	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA6852292 rs773673497	937	E>Q		No	ClinGen ExAC gnomAD
CA6852293 rs34149579	938	C>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA387097711 rs1194939639	938	C>R		No	ClinGen TOPMed
CA6852294 rs764786789	940	R>C		No	ClinGen ExAC TOPMed gnomAD
CA6852295 rs917652181	940	R>H		No	ClinGen TOPMed
CA6852296 rs917652181	940	R>P		No	ClinGen TOPMed
rs1257802042 CA387097752	941	T>I		No	ClinGen TOPMed gnomAD
rs1257802042 CA387097750	941	T>R		No	ClinGen TOPMed gnomAD
TCGA novel	942	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
VAR_051031 CA6852298 rs3736414	943	N>S		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA6852300 rs763593945	944	E>G		No	ClinGen ExAC TOPMed gnomAD
rs762526175 CA6852299	944	E>K		No	ClinGen ExAC TOPMed gnomAD
CA387097811 rs1174900545	946	A>G		No	ClinGen gnomAD
CA387097804 rs1479052130	946	A>T		No	ClinGen TOPMed gnomAD
rs370368141 CA6852301	948	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	951	A>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6852306 rs377755164	951	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA6852308 rs780179924	952	S>C		No	ClinGen ExAC
CA6852309 rs749262450	953	T>N		No	ClinGen ExAC TOPMed gnomAD
rs768797927 CA6852310	954	K>R		No	ClinGen ExAC gnomAD
rs1180084874 CA387097922	955	S>L		No	ClinGen TOPMed
CA6852311 rs779061521	956	G>S		No	ClinGen ExAC gnomAD
rs1416967657 CA387097941	957	Q>*		No	ClinGen TOPMed
CA6852312 rs371230540	958	E>K		No	ClinGen ESP ExAC gnomAD
rs773620432 CA387097987	960	I>N		No	ClinGen ExAC TOPMed gnomAD
rs773620432 CA6852314	960	I>T		No	ClinGen ExAC TOPMed gnomAD
CA6852313 rs772399112	960	I>V		No	ClinGen ExAC
rs747544252 CA6852315	961	E>K		No	ClinGen ExAC gnomAD
rs771273680 CA6852316	962	D>N		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	964	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs753746165 CA6852345	965	T>I		No	ClinGen ExAC gnomAD
rs753746165 CA244801555	965	T>N		No	ClinGen ExAC gnomAD
CA6852348 rs752844128	966	M>T		No	ClinGen ExAC gnomAD
rs765309371 CA6852347	966	M>V		No	ClinGen ExAC gnomAD
rs758461687 CA6852349	969	S>F		No	ClinGen ExAC TOPMed gnomAD
rs757595211 CA6852352	970	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs199957629 CA6852353	971	L>P		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel rs1181495996 CA387098193	972	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	972	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1181495996 CA387098190	972	S>Y		No	ClinGen gnomAD
CA387098199 rs1389027481	973	L>F		No	ClinGen TOPMed
rs770357254 CA387098239	976	L>V		No	ClinGen ExAC TOPMed gnomAD
rs1331362626 CA387098260	977	K>N		No	ClinGen TOPMed gnomAD
rs144387350 CA6852356	978	K>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA387098270 rs1445258952	978	K>R		No	ClinGen gnomAD
CA6852357 rs747717077	979	Q>L		No	ClinGen ExAC TOPMed gnomAD
CA6852359 COSM1209678 rs772777208	983	T>I	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA6852360 rs772777208	983	T>S		No	ClinGen ExAC TOPMed gnomAD
CA6852362 rs776423911	984	Q>K		No	ClinGen ExAC TOPMed gnomAD
CA387098427 rs1442551350	985	V>A		No	ClinGen TOPMed
CA387098429 rs1442551350	985	V>G		No	ClinGen TOPMed
rs369404250 CA6852395	985	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs369404250 CA6852396	985	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs756583740 CA6852397	986	R>C		No	ClinGen ExAC TOPMed gnomAD
CA6852398 rs756583740	986	R>G		No	ClinGen ExAC TOPMed gnomAD
CA6852399 rs754414554	986	R>H		No	ClinGen ExAC TOPMed gnomAD
CA6852400 rs755480400	987	V>I		No	ClinGen ExAC gnomAD
rs746591850 CA6852402	989	E>D		No	ClinGen ExAC TOPMed gnomAD
CA6852403 rs371527759	990	L>P		No	ClinGen ESP ExAC gnomAD
rs1593893767 CA387098487	991	E>G		No	ClinGen Ensembl
CA244801801 rs1001255085	991	E>K		No	ClinGen Ensembl
rs1032371094 CA244801802	992	K>E		No	ClinGen Ensembl
rs1238132901 CA387098507	992	K>N		No	ClinGen gnomAD
rs780940469 CA6852404	993	T>M		No	ClinGen ExAC TOPMed gnomAD
CA6852406 rs376560982	995	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs376560982 CA387098530	995	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	996	A>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1469842983 CA387098554	996	A>V		No	ClinGen TOPMed
rs775209346 CA6852408	998	R>C		No	ClinGen ExAC TOPMed gnomAD
rs1198078932 CA387098565	998	R>H		No	ClinGen gnomAD
CA387098566 rs1198078932	998	R>P		No	ClinGen gnomAD
rs572386782 CA6852411	999	M>L		No	ClinGen 1000Genomes ExAC gnomAD
CA387098569 rs572386782	999	M>V		No	ClinGen 1000Genomes ExAC gnomAD
CA6852413 rs151329331	1000	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA387098581 rs151329331	1000	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA244801851 rs151329331	1000	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA6852412 rs142435037	1000	R>W	Variant assessed as Somatic; 0.0007888 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs867807167 CA244801852	1002	G>R		No	ClinGen gnomAD
rs564135107 CA6852416	1005	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6852415 rs368669549	1005	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs866340398 CA244801858	1006	K>E		No	ClinGen Ensembl
CA387098652 rs1593893855	1006	K>R		No	ClinGen Ensembl
CA387098670 rs1397382274	1007	Q>R		No	ClinGen gnomAD
rs1372168791 CA387098694	1008	H>Q		No	ClinGen TOPMed
rs754185315 CA6852417	1008	H>R		No	ClinGen ExAC TOPMed gnomAD
CA387098699 rs1308659018	1009	Y>H		No	ClinGen gnomAD
CA244801871 rs543519111	1010	V>M		No	ClinGen 1000Genomes TOPMed
rs1241463242 CA387098766	1012	A>V		No	ClinGen gnomAD
rs1282712751 CA387098783	1014	A>T		No	ClinGen gnomAD
CA6852419 rs765825798	1014	A>V		No	ClinGen ExAC gnomAD
CA6852420 rs753115161	1015	S>P		No	ClinGen ExAC gnomAD
TCGA novel	1018	P>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1290471259 CA387098885	1019	G>E		No	ClinGen gnomAD
CA6852421 rs779185355	1021	E>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1021	E>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6852423 rs745534104	1022	V>A		No	ClinGen ExAC gnomAD
CA387098942 rs745534104	1022	V>G		No	ClinGen ExAC gnomAD
rs374500136 CA244801919	1022	V>L		No	ClinGen ESP ExAC gnomAD
rs374500136 CA6852422	1022	V>M		No	ClinGen ESP ExAC gnomAD
rs755697606 COSM2225469 CA6852424	1023	A>T	thyroid [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA6852425 rs140673904	1023	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA6852429 rs747993048	1025	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs149673932 COSM3753009 CA6852428	1025	R>W	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs772212756 CA6852430	1026	P>A		No	ClinGen ExAC
CA387099039 rs1401126929	1027	S>T		No	ClinGen gnomAD
rs760978846 CA6852432	1028	T>P		No	ClinGen ExAC gnomAD
rs1340143815 CA387099077	1029	A>G		No	ClinGen gnomAD
CA387099072 rs1340143815	1029	A>V		No	ClinGen gnomAD
rs776975060 CA6852435	1030	P>R		No	ClinGen ExAC gnomAD
CA387099088 rs1293704777	1030	P>S		No	ClinGen gnomAD
CA6852436 rs759987847	1031	R>*		No	ClinGen ExAC TOPMed gnomAD
CA6852437 rs147793406	1031	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1466665214 CA387099116	1032	S>G		No	ClinGen TOPMed
rs1457811035 CA387099142	1033	V>L		No	ClinGen gnomAD
rs753270866 CA6852439	1034	T>A		No	ClinGen ExAC TOPMed gnomAD
rs548351313 CA6852441	1034	T>I		No	ClinGen 1000Genomes ExAC gnomAD
rs548351313 CA6852440	1034	T>N		No	ClinGen 1000Genomes ExAC gnomAD
rs779730344 CA6852445	1035	T>I		No	ClinGen ExAC TOPMed gnomAD
CA6852444 rs779730344	1035	T>S		No	ClinGen ExAC TOPMed gnomAD
CA6852447 CA6852446 rs377698059	1036	K>N		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	1037	K>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1463567216 CA387099181	1037	K>T		No	ClinGen gnomAD
rs753226037 CA6852448	1039	P>S		No	ClinGen ExAC TOPMed gnomAD
CA244802025 rs753226037	1039	P>T		No	ClinGen ExAC TOPMed gnomAD
CA387099200 rs1401707790	1040	L>P		No	ClinGen gnomAD
rs1053935689 CA387099197	1040	L>V		No	ClinGen TOPMed
CA6852451 rs747139060	1041	A>G		No	ClinGen ExAC gnomAD
rs777845596 CA6852450	1041	A>T		No	ClinGen ExAC gnomAD
rs747139060 CA387099204	1041	A>V		No	ClinGen ExAC gnomAD
rs368029781 CA387099261 CA387099259	1045	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA6852454 rs759629356	1046	V>M		No	ClinGen ExAC gnomAD
CA387099279 COSM1359691 rs1593894118	1047	A>T	large_intestine [Cosmic]	No	ClinGen cosmic curated Ensembl
rs763371877 CA6852457	1047	A>V		No	ClinGen ExAC gnomAD
rs34167842 CA6852458	1048	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs138068677 CA6852460	1049	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA387099316 rs1451349300	1050	Q>*		No	ClinGen TOPMed
rs1012135702 CA244802078	1051	D>N		No	ClinGen Ensembl
CA6852461 rs765835009	1052	H>N		No	ClinGen ExAC gnomAD
CA387099351 rs1430835962	1052	H>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1024911744 CA244802095	1053	Q>*		No	ClinGen Ensembl
CA244802104 rs778770073	1053	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA6852463 rs374728346	1053	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1566117063 CA387099470	1056	K>R		No	ClinGen Ensembl
rs373870880 CA6852496	1058	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA244802303 rs895119629	1058	D>H		No	ClinGen TOPMed
CA387099492 rs895119629	1058	D>N		No	ClinGen TOPMed
CA387099510 rs1469328694	1059	G>D		No	ClinGen gnomAD
CA387099522 rs1184725666	1060	I>T		No	ClinGen TOPMed
rs772517567 CA6852498	1060	I>V		No	ClinGen ExAC TOPMed gnomAD
CA6852500 rs372949577	1062	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs372949577 CA387099548	1062	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA387099559 COSM936346 rs1410508390	1063	A>T	endometrium [Cosmic]	No	ClinGen cosmic curated gnomAD
CA387099567 rs1420625925	1063	A>V		No	ClinGen gnomAD
CA387099598 rs375706452	1066	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6852502 rs375706452	1066	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1461909568 CA387099609	1067	N>H		No	ClinGen TOPMed gnomAD
rs762639555 CA6852503	1068	Y>N		No	ClinGen ExAC gnomAD
CA6852504 rs763986600	1069	Y>S		No	ClinGen ExAC TOPMed gnomAD
CA387099651 rs1322707223	1069	Y>Y		No	ClinGen TOPMed

No associated diseases with O75146

4 regional properties for O75146

Type	Name	Position	InterPro Accession
domain	I/LWEQ domain	771 - 1012	IPR002558
domain	AP180 N-terminal homology (ANTH) domain	31 - 295	IPR011417
domain	ENTH domain	23 - 151	IPR013809
domain	Huntingtin-interacting protein 1, clathrin-binding domain	461 - 559	IPR032422

Functions

		Description
EC Number
Subcellular Localization	Cytoplasm, perinuclear region Endomembrane system Cytoplasmic vesicle, clathrin-coated vesicle membrane	Membrane-associated protein, mainly localized at the endocytic compartments and in the perinuclear region
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

17 GO annotations of cellular component

Name	Definition
apical plasma membrane	The region of the plasma membrane located at the apical end of the cell.
cell cortex	The region of a cell that lies just beneath the plasma membrane and often, but not always, contains a network of actin filaments and associated proteins.
clathrin-coated pit	A part of the endomembrane system in the form of an invagination of a membrane upon which a clathrin coat forms, and that can be converted by vesicle budding into a clathrin-coated vesicle. Coated pits form on the plasma membrane, where they are involved in receptor-mediated selective transport of many proteins and other macromolecules across the cell membrane, in the trans-Golgi network, and on some endosomes.
clathrin-coated vesicle	A vesicle with a coat formed of clathrin connected to the membrane via one of the clathrin adaptor complexes.
clathrin-coated vesicle membrane	The lipid bilayer surrounding a clathrin-coated vesicle.
cytoskeleton	A cellular structure that forms the internal framework of eukaryotic and prokaryotic cells. The cytoskeleton includes intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
dendrite cytoplasm	All of the contents of a dendrite, excluding the surrounding plasma membrane.
dendritic spine	A small, membranous protrusion from a dendrite that forms a postsynaptic compartment, typically receiving input from a single presynapse. They function as partially isolated biochemical and an electrical compartments. Spine morphology is variable:they can be thin, stubby, mushroom, or branched, with a continuum of intermediate morphologies. They typically terminate in a bulb shape, linked to the dendritic shaft by a restriction. Spine remodeling is though to be involved in synaptic plasticity.
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.
mitochondrion	A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration.
neuronal cell body	The portion of a neuron that includes the nucleus, but excludes cell projections such as axons and dendrites.
perinuclear region of cytoplasm	Cytoplasm situated near, or occurring around, the nucleus.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
postsynaptic density	An electron dense network of proteins within and adjacent to the postsynaptic membrane of an asymmetric, neuron-neuron synapse. Its major components include neurotransmitter receptors and the proteins that spatially and functionally organize them such as anchoring and scaffolding molecules, signaling enzymes and cytoskeletal components.
ruffle membrane	The portion of the plasma membrane surrounding a ruffle.
synaptic membrane	A specialized area of membrane on either the presynaptic or the postsynaptic side of a synapse, the junction between a nerve fiber of one neuron and another neuron or muscle fiber or glial cell.

13 GO annotations of molecular function

Name	Definition
actin filament binding	Binding to an actin filament, also known as F-actin, a helical filamentous polymer of globular G-actin subunits.
clathrin adaptor activity	Bringing together a cargo protein with clathrin, responsible for the formation of endocytic vesicles.
clathrin binding	Binding to a clathrin heavy or light chain, the main components of the coat of coated vesicles and coated pits, and which also occurs in synaptic vesicles.
clathrin light chain binding	Binding to a clathrin light chain.
identical protein binding	Binding to an identical protein or proteins.
phosphatidylinositol binding	Binding to an inositol-containing glycerophospholipid, i.e. phosphatidylinositol (PtdIns) and its phosphorylated derivatives.
phosphatidylinositol-3,4,5-trisphosphate binding	Binding to phosphatidylinositol-3,4,5-trisphosphate, a derivative of phosphatidylinositol in which the inositol ring is phosphorylated at the 3', 4' and 5' positions.
phosphatidylinositol-3,4-bisphosphate binding	Binding to phosphatidylinositol-3,4-bisphosphate, a derivative of phosphatidylinositol in which the inositol ring is phosphorylated at the 3' and 4' positions.
phosphatidylinositol-3,5-bisphosphate binding	Binding to phosphatidylinositol-3,5-bisphosphate, a derivative of phosphatidylinositol in which the inositol ring is phosphorylated at the 3' and 5' positions.
phosphatidylinositol-4,5-bisphosphate binding	Binding to phosphatidylinositol-4,5-bisphosphate, a derivative of phosphatidylinositol in which the inositol ring is phosphorylated at the 4' and 5' positions.
protein heterodimerization activity	Binding to a nonidentical protein to form a heterodimer.
protein homodimerization activity	Binding to an identical protein to form a homodimer.
SH3 domain binding	Binding to a SH3 domain (Src homology 3) of a protein, small protein modules containing approximately 50 amino acid residues found in a great variety of intracellular or membrane-associated proteins.

21 GO annotations of biological process

Name	Definition
actin filament organization	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising actin filaments. Includes processes that control the spatial distribution of actin filaments, such as organizing filaments into meshworks, bundles, or other structures, as by cross-linking.
activation of cysteine-type endopeptidase activity involved in apoptotic process	Any process that initiates the activity of the inactive enzyme cysteine-type endopeptidase in the context of an apoptotic process.
apoptotic process	A programmed cell death process which begins when a cell receives an internal (e.g. DNA damage) or external signal (e.g. an extracellular death ligand), and proceeds through a series of biochemical events (signaling pathway phase) which trigger an execution phase. The execution phase is the last step of an apoptotic process, and is typically characterized by rounding-up of the cell, retraction of pseudopodes, reduction of cellular volume (pyknosis), chromatin condensation, nuclear fragmentation (karyorrhexis), plasma membrane blebbing and fragmentation of the cell into apoptotic bodies. When the execution phase is completed, the cell has died.
clathrin coat assembly	The process that results in the assembly of clathrin triskelia into the ordered structure known as a clathrin cage.
digestive system development	The process whose specific outcome is the progression of the digestive system over time, from its formation to the mature structure. The digestive system is the entire structure in which digestion takes place. Digestion is all of the physical, chemical, and biochemical processes carried out by multicellular organisms to break down ingested nutrients into components that may be easily absorbed and directed into metabolism.
endocytosis	A vesicle-mediated transport process in which cells take up external materials or membrane constituents by the invagination of a small region of the plasma membrane to form a new membrane-bounded vesicle.
negative regulation of actin filament polymerization	Any process that stops, prevents, or reduces the frequency, rate or extent of actin polymerization.
negative regulation of apoptotic process	Any process that stops, prevents, or reduces the frequency, rate or extent of cell death by apoptotic process.
negative regulation of Arp2/3 complex-mediated actin nucleation	Any process that stops, prevents, or reduces the frequency, rate or extent of actin nucleation mediated by the Arp2/3 complex and interacting proteins.
positive regulation of apoptotic process	Any process that activates or increases the frequency, rate or extent of cell death by apoptotic process.
positive regulation of clathrin coat assembly	Any process that activates or increases the frequency, rate or extent of clathrin coat assembly.
positive regulation of epidermal growth factor receptor signaling pathway	Any process that activates or increases the frequency, rate or extent of epidermal growth factor receptor signaling pathway activity.
positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway	Any process that activates or increases the frequency, rate or extent of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway.
positive regulation of platelet-derived growth factor receptor-beta signaling pathway	Any process that activates or increases the frequency, rate or extent of platelet-derived growth factor receptor-beta signaling pathway.
positive regulation of protein binding	Any process that activates or increases the frequency, rate or extent of protein binding.
protein stabilization	Any process involved in maintaining the structure and integrity of a protein and preventing it from degradation or aggregation.
receptor-mediated endocytosis	An endocytosis process in which cell surface receptors ensure specificity of transport. A specific receptor on the cell surface binds tightly to the extracellular macromolecule (the ligand) that it recognizes; the plasma-membrane region containing the receptor-ligand complex then undergoes endocytosis, forming a transport vesicle containing the receptor-ligand complex and excluding most other plasma-membrane proteins. Receptor-mediated endocytosis generally occurs via clathrin-coated pits and vesicles.
regulation of actin cytoskeleton organization	Any process that modulates the frequency, rate or extent of the formation, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising actin filaments and their associated proteins.
regulation of clathrin-dependent endocytosis	Any process that modulates the frequency, rate or extent of clathrin-mediated endocytosis.
regulation of endocytosis	Any process that modulates the frequency, rate or extent of endocytosis.
regulation of gastric acid secretion	Any process that modulates the rate frequency or extent of gastric secretion. Gastric secretion is the regulated release of gastric acid (hydrochloric acid) by parietal or oxyntic cells during digestion.

No homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
No homologous proteins

10	20	30	40	50	60
MNSIKNVPAR	VLSRRPGHSL	EAEREQFDKT	QAISISKAIN	TQEAPVKEKH	ARRIILGTHH
70	80	90	100	110	120
EKGAFTFWSY	AIGLPLPSSS	ILSWKFCHVL	HKVLRDGHPN	VLHDCQRYRS	NIREIGDLWG
130	140	150	160	170	180
HLHDRYGQLV	NVYTKLLLTK	ISFHLKHPQF	PAGLEVTDEV	LEKAAGTDVN	NIFQLTVEMF
190	200	210	220	230	240
DYMDCELKLS	ESVFRQLNTA	IAVSQMSSGQ	CRLAPLIQVI	QDCSHLYHYT	VKLLFKLHSC
250	260	270	280	290	300
LPADTLQGHR	DRFHEQFHSL	RNFFRRASDM	LYFKRLIQIP	RLPEGPPNFL	RASALAEHIK
310	320	330	340	350	360
PVVVIPEEAP	EDEEPENLIE	ISTGPPAGEP	VVVADLFDQT	FGPPNGSVKD	DRDLQIESLK
370	380	390	400	410	420
REVEMLRSEL	EKIKLEAQRY	IAQLKSQVNA	LEGELEEQRK	QKQKALVDNE	QLRHELAQLR
430	440	450	460	470	480
AAQLEGERSQ	GLREEAERKA	SATEARYNKL	KEKHSELVHV	HAELLRKNAD	TAKQLTVTQQ
490	500	510	520	530	540
SQEEVARVKE	QLAFQVEQVK	RESELKLEEK	SDQLEKLKRE	LEAKAGELAR	AQEALSHTEQ
550	560	570	580	590	600
SKSELSSRLD	TLSAEKDALS	GAVRQREADL	LAAQSLVRET	EAALSREQQR	SSQEQGELQG
610	620	630	640	650	660
RLAERESQEQ	GLRQRLLDEQ	FAVLRGAAAE	AAGILQDAVS	KLDDPLHLRC	TSSPDYLVSR
670	680	690	700	710	720
AQEALDAVST	LEEGHAQYLT	SLADASALVA	ALTRFSHLAA	DTIINGGATS	HLAPTDPADR
730	740	750	760	770	780
LIDTCRECGA	RALELMGQLQ	DQQALRHMQA	SLVRTPLQGI	LQLGQELKPK	SLDVRQEELG
790	800	810	820	830	840
AVVDKEMAAT	SAAIEDAVRR	IEDMMNQARH	ASSGVKLEVN	ERILNSCTDL	MKAIRLLVTT
850	860	870	880	890	900
STSLQKEIVE	SGRGAATQQE	FYAKNSRWTE	GLISASKAVG	WGATQLVEAA	DKVVLHTGKY
910	920	930	940	950	960
EELIVCSHEI	AASTAQLVAA	SKVKANKHSP	HLSRLQECSR	TVNERAANVV	ASTKSGQEQI
970	980	990	1000	1010	1020
EDRDTMDFSG	LSLIKLKKQE	METQVRVLEL	EKTLEAERMR	LGELRKQHYV	LAGASGSPGE
1030	1040	1050	1060
EVAIRPSTAP	RSVTTKKPPL	AQKPSVAPRQ	DHQLDKKDGI	YPAQLVNY