AiPD: Autoinhibited Protein Database

Q8IUX7

Gene name	AEBP1 (ACLP)
Protein name	Adipocyte enhancer-binding protein 1
Names	AE-binding protein 1, Aortic carboxypeptidase-like protein
Species	Homo sapiens (Human)
KEGG Pathway	hsa:165
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-460 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-460 (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 Q8IUX7

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q8IUX7-F1	Predicted				AlphaFoldDB

1088 variants for Q8IUX7

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA573787925 RCV000656733 rs1443187318	306	Y>*	Ehlers-Danlos syndrome, classic-like, 2 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs2096226168 RCV001331673	356	W>*	Ehlers-Danlos syndrome, classic-like, 2 [ClinVar]	Yes	ClinVar dbSNP
RCV000656233 rs1554327284	440	R>missing	Ehlers-Danlos syndrome, classic-like, 2 [ClinVar]	Yes	ClinVar dbSNP
rs1554327449 RCV000656232	490	N>missing	Ehlers-Danlos syndrome, classic-like, 2 [ClinVar]	Yes	ClinVar dbSNP
rs777647845 RCV000656231 CA4238000	581	C>*	Ehlers-Danlos syndrome, classic-like, 2 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
VAR_080664	581	C>del	EDSCLL2 [UniProt]	Yes	UniProt
CA4238055 RCV001290233 rs753531562	642	L>P	Ehlers-Danlos syndrome, classic type, 1 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001331672 rs2096232673	951	Y>*	Ehlers-Danlos syndrome, classic-like, 2 [ClinVar]	Yes	ClinVar dbSNP
RCV001335686 rs913206509	1128	E>D	Ehlers-Danlos syndrome, classic-like, 2 [ClinVar]	Yes	ClinVar dbSNP
RCV001310963 rs766250601	1	M>K		No	ClinVar dbSNP
rs902326529 CA157876995	2	A>T		No	ClinGen gnomAD
rs751421512 CA4237398	6	G>R		No	ClinGen ExAC
rs28362521 CA4237400	7	A>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs754975816 CA367355327	7	A>P		No	ClinGen ExAC TOPMed gnomAD
rs754975816 CA4237399	7	A>T		No	ClinGen ExAC TOPMed gnomAD
CA367355332 rs28362521	7	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	9	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs545702407 CA4237404	13	L>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA367355422 rs757535956	14	L>M		No	ClinGen ExAC TOPMed gnomAD
CA367355426 rs1186604255	14	L>P		No	ClinGen TOPMed
CA4237406 rs779371963	15	A>T		No	ClinGen ExAC gnomAD
rs1313002906 CA367355445	15	A>V		No	ClinGen gnomAD
rs1459200378 CA367355471	18	A>V		No	ClinGen gnomAD
rs1179142040 CA367355484	20	C>G		No	ClinGen TOPMed gnomAD
CA4237408 rs772653486	20	C>Y		No	ClinGen ExAC TOPMed gnomAD
CA157877005 rs13241299	21	P>L		No	ClinGen Ensembl
CA367355523 rs1586043621	24	R>S		No	ClinGen Ensembl
rs1425359837 CA367355542	25	P>L		No	ClinGen gnomAD
rs1031972849 CA157877008	27	T>M		No	ClinGen TOPMed gnomAD
rs564360927 CA4237410	27	T>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4237412 rs375195748	28	V>M		No	ClinGen ESP ExAC gnomAD
rs1332607064 CA367355582	29	L>P		No	ClinGen gnomAD
rs1439077333 CA367355594	31	D>N		No	ClinGen gnomAD
CA367355601 rs1276986859	31	D>V		No	ClinGen gnomAD
rs772980753 CA4237413	32	D>E		No	ClinGen ExAC gnomAD
rs766049309 CA367355631	33	E>D		No	ClinGen ExAC TOPMed gnomAD
rs1320062865 CA367355636	34	I>F		No	ClinGen gnomAD
rs1223064276 CA367355664	36	E>D		No	ClinGen Ensembl
rs1358682655 CA367355657	36	E>K		No	ClinGen gnomAD
CA367355670 rs1467090577	37	F>C		No	ClinGen gnomAD
CA367355665 rs1272425975	37	F>I		No	ClinGen gnomAD
rs1272425975 CA367355667	37	F>V		No	ClinGen gnomAD
rs767491556 CA4237418	39	E>*		No	ClinGen ExAC gnomAD
CA367355685 rs1231281397	39	E>D		No	ClinGen TOPMed
CA367355688 rs1475000847	40	G>C		No	ClinGen gnomAD
rs752694956 CA4237419	41	F>I		No	ClinGen ExAC gnomAD
CA157877019 rs893407626	42	L>Q		No	ClinGen TOPMed gnomAD
CA367355722 rs1394316396	45	L>I		No	ClinGen gnomAD
rs1013558383 CA157877022	45	L>P		No	ClinGen TOPMed
rs1350798652 CA367355761	48	E>D		No	ClinGen gnomAD
rs141126404 CA4237423	48	E>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA4237422 rs754028506	48	E>Q		No	ClinGen ExAC gnomAD
rs546918357 CA4237425	49	P>H		No	ClinGen 1000Genomes ExAC
CA367355767 rs1430520850	49	P>S		No	ClinGen gnomAD
rs1166588417 CA367355783	51	E>Q		No	ClinGen TOPMed
rs1219261974 CA367355801	52	D>G		No	ClinGen gnomAD
CA4237426 rs750811336	52	D>N		No	ClinGen ExAC gnomAD
CA157877055 rs1025828193	53	D>E		No	ClinGen Ensembl
rs994227969 CA157877054	53	D>N		No	ClinGen Ensembl
CA367355821 rs1292766784	54	V>M		No	ClinGen gnomAD
TCGA novel	55	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4237427 rs758758357	57	P>L		No	ClinGen ExAC gnomAD
CA4237428 rs780694276	58	P>S		No	ClinGen ExAC gnomAD
rs1446193475 CA367355875	59	P>L		No	ClinGen gnomAD
CA367355882 rs1213412419	60	P>S		No	ClinGen gnomAD
CA367355893 rs1264832591	61	E>*		No	ClinGen gnomAD
CA367355913 rs1186853175	62	P>H		No	ClinGen gnomAD
CA367355907 rs1488420751	62	P>S		No	ClinGen TOPMed gnomAD
CA367355916 rs1390781217	63	T>A		No	ClinGen TOPMed
CA367355914 rs1390781217	63	T>P		No	ClinGen TOPMed
rs971997979 CA157877056	65	R>Q		No	ClinGen TOPMed
rs559299616 CA4237429	66	V>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1415183456 CA367355953	67	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA157877057 rs984395825	69	A>T		No	ClinGen TOPMed gnomAD
rs1562683403 CA367355984	71	A>V		No	ClinGen Ensembl
rs748847396 CA157877059 CA4237433	72	G>R		No	ClinGen ExAC TOPMed gnomAD
rs748847396 CA367355990	72	G>W		No	ClinGen ExAC TOPMed gnomAD
rs112298043	73	G>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs1338748721 CA367356003	73	G>D		No	ClinGen TOPMed gnomAD
rs1312575130 CA367355996	73	G>S		No	ClinGen gnomAD
rs1338748721 CA367356004	73	G>V		No	ClinGen TOPMed gnomAD
CA4237434 rs770632747	76	G>E		No	ClinGen ExAC TOPMed gnomAD
CA367356049 rs1314383728	77	K>N		No	ClinGen TOPMed
rs1284660903 CA367356053	78	R>W		No	ClinGen gnomAD
CA4237435 rs773952615	79	P>R		No	ClinGen ExAC gnomAD
CA4237436 rs759368887	80	G>E		No	ClinGen ExAC gnomAD
TCGA novel	81	T>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1287875688 CA367356078	81	T>P		No	ClinGen gnomAD
CA367356095 rs1586043850	82	A>V		No	ClinGen Ensembl
COSM4164346 CA4237438 rs775379801	83	A>T	ovary [Cosmic]	No	ClinGen cosmic curated ExAC
CA4237439 rs760645622	85	V>M		No	ClinGen ExAC gnomAD
rs1213397279 CA367356942	86	P>T		No	ClinGen gnomAD
CA4237452 rs75107445	87	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA367356964 rs1199822184	88	E>*		No	ClinGen gnomAD
CA4237454 rs139078339	89	K>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4237456 rs371412622	92	D>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA4237457 rs371412622	92	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs776505571 CA4237458	93	K>E		No	ClinGen ExAC gnomAD
rs776505571 CA4237459	93	K>Q		No	ClinGen ExAC gnomAD
TCGA novel	95	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA367357065 rs1321585463	97	G>S		No	ClinGen gnomAD
CA367357104 rs1180881554	100	D>N		No	ClinGen TOPMed
CA4237461 rs750627971	102	G>R		No	ClinGen ExAC TOPMed gnomAD
rs145109144 CA4237462	104	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1182171250 CA367357170	105	V>A		No	ClinGen TOPMed
rs1392585255 CA367357167	105	V>L		No	ClinGen gnomAD
rs1392585255 CA367357168	105	V>M		No	ClinGen gnomAD
CA367357176 rs1387187805	106	P>T		No	ClinGen gnomAD
rs1022982321 CA157877742	107	K>R		No	ClinGen gnomAD
CA4237463 rs375250739	112	G>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs1586045047 CA367357319	113	S>F		No	ClinGen Ensembl
rs755478473 CA4237465	113	S>T		No	ClinGen ExAC gnomAD
CA367357326 rs1333592639	114	P>S		No	ClinGen gnomAD
TCGA novel	114	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	115	R>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4237467 rs564381012	116	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs990279693 CA157877752	117	P>L		No	ClinGen Ensembl
CA4237469 rs778322207	123	K>Q		No	ClinGen ExAC gnomAD
rs745492533 CA4237471	127	A>T		No	ClinGen ExAC gnomAD
rs758068488 CA4237472	128	T>I		No	ClinGen ExAC gnomAD
rs746809230 CA4237474	131	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1039677195 CA157877762	134	K>E		No	ClinGen gnomAD
CA4237477 rs748076995	137	K>Q		No	ClinGen ExAC gnomAD
CA367357782 rs1354246258	138	A>T		No	ClinGen gnomAD
rs1329738528 CA367357897	143	K>N		No	ClinGen TOPMed
CA4237480 rs763213790	145	K>R		No	ClinGen ExAC gnomAD
CA367357973 rs763213790	145	K>T		No	ClinGen ExAC gnomAD
CA367358060 rs1394851640	147	P>L		No	ClinGen TOPMed
CA367358073 rs1410015659	148	K>T		No	ClinGen TOPMed
CA367358102 rs1352044510	150	T>A		No	ClinGen gnomAD
rs886862831 CA367358221	154	K>N		No	ClinGen TOPMed gnomAD
rs1269746679 CA367358216	154	K>R		No	ClinGen gnomAD
TCGA novel	161	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs112053839 CA157877788	161	T>S		No	ClinGen Ensembl
rs1038224557 CA157877793	162	K>R		No	ClinGen Ensembl
rs1181069285 CA367358426	164	P>L		No	ClinGen gnomAD
CA367358425 rs1181069285	164	P>R		No	ClinGen gnomAD
rs753213462 CA4237485	164	P>S		No	ClinGen ExAC gnomAD
rs140913379 CA4237486	165	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA367358478 rs1158826335	167	G>R		No	ClinGen gnomAD
CA4237488 rs749914441	169	R>K		No	ClinGen ExAC gnomAD
rs200698594 CA4237490	169	R>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs754738284 CA4237492	170	P>L		No	ClinGen ExAC gnomAD
CA367358518 rs746715181	170	P>S		No	ClinGen ExAC gnomAD
rs746715181 CA4237491	170	P>T		No	ClinGen ExAC gnomAD
CA367358535 rs1397113448	171	P>L		No	ClinGen gnomAD
CA367358530 rs1219138633	171	P>S		No	ClinGen TOPMed
TCGA novel	172	I>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	172	I>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	176	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA367358627 rs1273841123	177	E>G		No	ClinGen Ensembl
rs1586045278 CA367358636	178	T>P		No	ClinGen Ensembl
rs1286964324 CA367358667	180	E>Q		No	ClinGen gnomAD
CA367358693 rs1442113522	182	P>T		No	ClinGen TOPMed
rs555988943 CA4237498	183	L>V		No	ClinGen ExAC TOPMed gnomAD
CA367358717 rs1257820435	184	P>L		No	ClinGen gnomAD
rs774689972 CA4237499	185	P>A		No	ClinGen ExAC gnomAD
TCGA novel	185	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs774689972 CA367358718	185	P>T		No	ClinGen ExAC gnomAD
rs1319503957 CA367358728	186	P>A		No	ClinGen TOPMed
rs551362478 CA4237500	186	P>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1319503957 CA367358730	186	P>T		No	ClinGen TOPMed
CA4237503 rs200193837	187	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
RCV000912533 rs200193837 CA4237502	187	P>R		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA367358740 rs1179025893	187	P>S		No	ClinGen gnomAD
TCGA novel	188	S>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	189	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1359201205 CA367358777	190	G>D		No	ClinGen gnomAD
CA367358770 rs1177870265	190	G>S		No	ClinGen gnomAD
rs1421144047 CA367358785	191	P>S		No	ClinGen Ensembl
rs368973524 CA4237508	192	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA367358793 rs368973524	192	E>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs754648305 CA4237509	193	E>D		No	ClinGen ExAC gnomAD
rs1178791920 CA367358828	195	P>H		No	ClinGen Ensembl
rs780987269 CA4237510	195	P>S		No	ClinGen ExAC gnomAD
rs1554326683 CA367358836	196	Q>*		No	ClinGen Ensembl
CA4237511 rs767818858	196	Q>P		No	ClinGen ExAC TOPMed gnomAD
rs756007050 CA4237512	197	E>D		No	ClinGen ExAC gnomAD
CA367358848 rs1242747366	197	E>K		No	ClinGen TOPMed
CA367358861 rs1459043514	198	G>E		No	ClinGen gnomAD
RCV000785736 rs777560888 CA4237513	198	G>R		No	ClinGen ClinVar ExAC dbSNP gnomAD
CA367358865 rs1199252402	199	G>R		No	ClinGen gnomAD
CA367358898 rs752455078	200	A>S		No	ClinGen ExAC TOPMed gnomAD
CA4237530 rs752455078	200	A>T		No	ClinGen ExAC TOPMed gnomAD
CA4237531 RCV000970673 rs139352566	200	A>V		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA157878122 rs369661351	201	P>R		No	ClinGen ESP
CA367358902 rs1296622286	201	P>T		No	ClinGen gnomAD
CA4237534 rs777747702	202	L>V		No	ClinGen ExAC TOPMed gnomAD
rs1254509289 CA367358922	203	S>L		No	ClinGen TOPMed gnomAD
rs1354174788 CA367358973	207	Q>H		No	ClinGen gnomAD
CA4237537 CA367358987 rs757278170	208	N>K		No	ClinGen ExAC TOPMed gnomAD
CA367358998 rs1290313218	209	P>L		No	ClinGen gnomAD
rs1287780409 CA367359003	210	G>E		No	ClinGen TOPMed gnomAD
CA4237539 rs745946741	210	G>R		No	ClinGen ExAC gnomAD
rs772259453 CA4237540	212	E>D		No	ClinGen ExAC gnomAD
CA157878142 rs1044627066	213	T>S		No	ClinGen Ensembl
rs992139534 CA157878145	215	V>A		No	ClinGen TOPMed
rs1486635503 CA367359071	216	E>G		No	ClinGen TOPMed
rs777002650 CA4237545	218	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs768864068 CA4237544	218	R>W		No	ClinGen ExAC TOPMed
rs1586045885 CA367359113	220	H>P		No	ClinGen Ensembl
CA4237547 rs762250650	220	H>Q		No	ClinGen ExAC gnomAD
CA4237548 rs773779720	223	E>K		No	ClinGen ExAC gnomAD
rs200342317 CA4237574	224	P>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA367359190 rs750288301	224	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs750288301 CA4237575	224	P>R		No	ClinGen ExAC TOPMed gnomAD
rs1346443301 CA367359194	225	E>Q		No	ClinGen gnomAD
CA4237577 rs367737639	226	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs755121488 CA4237579	230	Q>H		No	ClinGen ExAC gnomAD
CA4237580 rs372015098	234	D>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs756442121 CA4237582	236	N>K		No	ClinGen ExAC gnomAD
rs748420024 CA4237581	236	N>S		No	ClinGen ExAC gnomAD
rs1157955247 CA367359281	236	N>Y		No	ClinGen TOPMed
CA157878218 rs375315010	237	D>E		No	ClinGen ESP TOPMed gnomAD
rs142763648 CA4237583	238	Q>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs774791727 CA4237586	240	E>D		No	ClinGen ExAC gnomAD
CA4237585 rs771478590	240	E>K		No	ClinGen ExAC TOPMed gnomAD
rs746524312 CA4237587	241	R>G		No	ClinGen ExAC gnomAD
rs553811931 CA4237588	241	R>K		No	ClinGen 1000Genomes ExAC gnomAD
rs151068311 CA4237589	241	R>S		No	ClinGen ESP ExAC gnomAD
rs979852412 CA157878250	242	E>K		No	ClinGen Ensembl
CA4237590 rs761597363	243	D>E		No	ClinGen ExAC gnomAD
CA574225991 rs1404970608	244	Y>*		No	ClinGen gnomAD
rs201963190 CA4237591	245	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1276889326 CA367359393	246	D>A		No	ClinGen gnomAD
rs141311453 CA4237593	247	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA4237616 rs760817355	248	E>K		No	ClinGen ExAC gnomAD
CA4237617 rs764369368	250	I>L		No	ClinGen ExAC gnomAD
rs754064375 CA4237618	250	I>T		No	ClinGen ExAC gnomAD
CA367359465 rs764369368	250	I>V		No	ClinGen ExAC gnomAD
CA4237620 rs574188983	251	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4237619 rs779044302	251	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs758987524 CA4237622	252	R>C		No	ClinGen ExAC TOPMed gnomAD
rs200279382 CA4237623	252	R>H		No	ClinGen ExAC gnomAD
rs747658564 CA4237624	253	Q>L		No	ClinGen ExAC gnomAD
rs1385370995 CA367359561	259	P>L		No	ClinGen TOPMed gnomAD
CA367359550 rs755639223	259	P>S		No	ClinGen ExAC gnomAD
CA4237625 rs755639223	259	P>T		No	ClinGen ExAC gnomAD
rs867536357 CA367359565	260	P>A		No	ClinGen gnomAD
CA367359567 rs1308710829	260	P>Q		No	ClinGen gnomAD
rs867536357 CA157878384	260	P>S		No	ClinGen gnomAD
CA4237627 rs777463013	262	R>K		No	ClinGen ExAC gnomAD
TCGA novel	263	R>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4237628 rs748935568	264	R>G		No	ClinGen ExAC TOPMed gnomAD
rs1367933355 CA367359620	265	R>M		No	ClinGen TOPMed
rs768974633	265	R>missing	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs1482991967 CA367359632	266	P>H		No	ClinGen gnomAD
rs866170571 CA157878396	266	P>T		No	ClinGen Ensembl
CA4237630 rs544420240	267	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs745744525 CA157878404	268	R>G		No	ClinGen ExAC TOPMed gnomAD
CA4237632 rs771996997	268	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA4237631 rs745744525	268	R>W		No	ClinGen ExAC TOPMed gnomAD
CA4237633 rs775469777	269	V>I		No	ClinGen ExAC gnomAD
rs760792254 CA157878407	270	W>*		No	ClinGen ExAC
rs760792254 CA4237634	270	W>C		No	ClinGen ExAC
CA157878415 rs761972892	273	P>H		No	ClinGen ExAC TOPMed gnomAD
CA4237637 rs761972892	273	P>L		No	ClinGen ExAC TOPMed gnomAD
CA367359703 rs761972892	273	P>R		No	ClinGen ExAC TOPMed gnomAD
rs2537188 CA157878410	273	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs2537188 VAR_043118 CA4237636	273	P>T		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1301559060 CA367359710	274	P>H		No	ClinGen gnomAD
TCGA novel	277	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4237642 rs766981749	278	A>D		No	ClinGen ExAC gnomAD
rs750822533 CA4237641	278	A>S		No	ClinGen ExAC TOPMed gnomAD
rs750822533 CA4237640	278	A>T		No	ClinGen ExAC TOPMed gnomAD
rs752164012 CA4237643	279	P>L		No	ClinGen ExAC TOPMed gnomAD
rs752164012 CA157878430	279	P>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA4237645 rs777183157	280	A>V		No	ClinGen ExAC gnomAD
CA367359779 rs1264855392	281	P>A		No	ClinGen TOPMed gnomAD
CA367359785 rs1461723554	281	P>L		No	ClinGen gnomAD
rs1264855392 CA367359780	281	P>S		No	ClinGen TOPMed gnomAD
rs561259360 CA4237646	282	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs756870217 CA4237647	283	P>L		No	ClinGen ExAC TOPMed gnomAD
COSM485357 rs1343015840 CA367359819	285	E>K	kidney [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs1013697124 CA157878457	287	I>T		No	ClinGen TOPMed gnomAD
CA367359834 rs1424063335	287	I>V		No	ClinGen TOPMed gnomAD
rs1353551049 CA367359840	288	E>K		No	ClinGen TOPMed
CA367359861 rs1422940212	289	P>S		No	ClinGen gnomAD
CA4237665 rs763604919	291	V>M		No	ClinGen ExAC gnomAD
TCGA novel	292	K>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA367359903 rs1346172781	293	P>A		No	ClinGen TOPMed gnomAD
rs753288702 CA4237666	296	P>S		No	ClinGen ExAC gnomAD
rs560609753 CA4237668	297	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs560609753 CA157878522	297	P>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4237670 rs376019197 RCV000889438	299	P>S		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1562685340 CA367359967	300	P>A		No	ClinGen Ensembl
rs376262022 CA4237672	302	Y>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA367360000 rs1476668852	303	G>D		No	ClinGen gnomAD
rs1586046614 CA367360008	304	D>V		No	ClinGen Ensembl
CA367360014 rs1413495914	305	G>D		No	ClinGen gnomAD
CA4237676 rs369540170	307	V>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs138067786 CA4237675	307	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1347105896 CA367360037	309	P>S		No	ClinGen TOPMed gnomAD
rs773539310 CA4237678	312	D>N		No	ClinGen ExAC gnomAD
CA4237679 rs763301549	313	D>N		No	ClinGen ExAC gnomAD
CA367360301 rs1415306314	314	M>T		No	ClinGen TOPMed
rs945595554 CA367360312	315	D>H		No	ClinGen TOPMed gnomAD
rs945595554 CA157879965	315	D>N		No	ClinGen TOPMed gnomAD
rs376785882 CA157879973	317	Y>C		No	ClinGen ESP
CA157879968 rs1041394546	317	Y>H		No	ClinGen Ensembl
rs779765227 CA4237692	318	F>S		No	ClinGen ExAC TOPMed gnomAD
rs779765227 CA367360345	318	F>Y		No	ClinGen ExAC TOPMed gnomAD
CA367360364 rs1325119784	320	P>L		No	ClinGen gnomAD
CA367360373 COSM1644372 rs1225864009	321	P>L	salivary_gland [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
COSM1182119 CA4237693 rs141003956	322	P>L	large_intestine Variant assessed as Somatic; 5.366e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA367360379 rs141003956	322	P>Q		No	ClinGen ESP ExAC TOPMed gnomAD
COSM1698613 CA367360378 rs1187616022	322	P>S	skin [Cosmic]	No	ClinGen cosmic curated TOPMed
CA367360392 rs1194442374	323	P>L		No	ClinGen gnomAD
rs1465672114 CA367360400	324	Q>R		No	ClinGen gnomAD
rs1275309441 CA367360411	325	K>R		No	ClinGen TOPMed gnomAD
rs780972356 CA4237695	326	P>S		No	ClinGen ExAC gnomAD
rs769957543 CA4237697 COSM3412076	327	D>N	Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA367360449 rs1481489762	328	A>V		No	ClinGen gnomAD
rs1200006081 CA367360451	329	E>K		No	ClinGen gnomAD
rs778024565 CA367360466	330	R>C		No	ClinGen ExAC gnomAD
rs374505155 CA4237700	330	R>H		No	ClinGen ESP ExAC gnomAD
CA4237699 rs374505155	330	R>L		No	ClinGen ESP ExAC gnomAD
rs778024565 CA4237698	330	R>S		No	ClinGen ExAC gnomAD
CA4237701 rs532526583	332	T>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA367360487 rs532526583	332	T>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA367360493 rs1198892357	333	D>Y		No	ClinGen gnomAD
rs149248982 CA367360506	334	E>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA367360512 rs1449023544	334	E>D		No	ClinGen TOPMed
rs149248982 CA4237704	334	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4237705 rs377324824	335	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA4237706 rs764676291	336	K>E		No	ClinGen ExAC gnomAD
CA367360555 rs1326373011	338	E>*		No	ClinGen gnomAD
CA157880029 rs973043917	338	E>G		No	ClinGen TOPMed
rs769155342 CA4237726	342	P>H		No	ClinGen ExAC TOPMed gnomAD
rs747456923 CA4237725	342	P>T		No	ClinGen ExAC gnomAD
TCGA novel	345	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs199942462 CA157880112	347	S>R		No	ClinGen 1000Genomes
rs762428536 CA4237728	348	S>I		No	ClinGen ExAC TOPMed gnomAD
CA157880118 rs1027680186	348	S>R		No	ClinGen Ensembl
CA4237730 rs765955366	350	K>E		No	ClinGen ExAC
rs768025442 CA157880132	353	T>N		No	ClinGen Ensembl
CA4237732 rs759258426	354	D>N		No	ClinGen ExAC TOPMed gnomAD
CA367360816 rs1487431018	357	A>T		No	ClinGen TOPMed
rs1181541071 CA367360837	358	V>G		No	ClinGen gnomAD
CA367360832 rs1264072368	358	V>M		No	ClinGen gnomAD
rs767162666 CA4237733	361	G>A		No	ClinGen ExAC gnomAD
rs1221972934 CA367360903	363	D>G		No	ClinGen TOPMed
rs756044816 CA4237735	364	H>D		No	ClinGen ExAC gnomAD
rs1283697013 CA367360937	365	K>R		No	ClinGen TOPMed
rs767199049 CA4237751	366	E>D		No	ClinGen ExAC gnomAD
CA157880150 rs1041672524	366	E>K		No	ClinGen TOPMed
rs775336371 CA4237752	367	P>R		No	ClinGen ExAC TOPMed gnomAD
CA367361008 rs760520066	368	R>*		No	ClinGen ExAC TOPMed gnomAD
CA4237753 rs760520066	368	R>G		No	ClinGen ExAC TOPMed gnomAD
COSM461594 CA4237754 rs75175945	368	R>Q	cervix Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA4237756 rs200190216	370	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA367361041 rs1264956350	370	G>V		No	ClinGen gnomAD
rs765171093 CA4237757	371	E>K		No	ClinGen ExAC gnomAD
TCGA novel	375	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA157880227 rs1013989568	375	E>K		No	ClinGen TOPMed
CA157880233 rs992292143	376	E>K		No	ClinGen TOPMed gnomAD
CA367361119 rs992292143	376	E>Q		No	ClinGen TOPMed gnomAD
rs1267526011 CA367361126	376	E>V		No	ClinGen TOPMed gnomAD
rs758474655 CA4237760	377	W>*		No	ClinGen ExAC gnomAD
rs780233667 CA4237761	378	T>M		No	ClinGen ExAC TOPMed gnomAD
CA367361147 rs1197841030	378	T>S		No	ClinGen gnomAD
CA4237764 rs781561734	380	T>M		No	ClinGen ExAC TOPMed gnomAD
rs202186949 CA4237766	381	E>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs759682693 CA4237797	384	K>R		No	ClinGen ExAC gnomAD
CA367361308 rs1175682016	386	P>H		No	ClinGen TOPMed gnomAD
rs991415824 CA157880548	387	P>L		No	ClinGen TOPMed
rs780326187	388	I>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	388	I>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs752916403 CA4237800	390	M>L		No	ClinGen ExAC TOPMed gnomAD
CA367361371 rs1334330940	390	M>T		No	ClinGen gnomAD
CA4237801 rs756465684	391	E>V		No	ClinGen ExAC gnomAD
CA4237802 rs144457398	392	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1280751381 CA367361420 COSM601270	393	H>Q	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
CA4237803 rs754319273	394	R>C		No	ClinGen ExAC gnomAD
CA4237804 rs111888664	394	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs1279851798 CA367361493	397	D>A		No	ClinGen gnomAD
rs746511882 CA4237806	397	D>N		No	ClinGen ExAC TOPMed gnomAD
CA4237807 rs754592352	398	N>D		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	399	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1396903800 CA367361554	401	R>*		No	ClinGen TOPMed gnomAD
rs780875133 CA4237808 COSM1244564	401	R>Q	oesophagus [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA367361572 rs1234651797	402	A>V		No	ClinGen gnomAD
rs1198550027 CA367361589	403	S>F		No	ClinGen gnomAD
rs1317623668 CA367361604	405	M>L		No	ClinGen gnomAD
CA367361613 rs1374200264	405	M>T		No	ClinGen TOPMed
TCGA novel	406	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4237809 rs747786369	407	R>C		No	ClinGen ExAC TOPMed gnomAD
CA4237810 rs769581108	407	R>H	Variant assessed as Somatic; 0.0006941 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1351980898 CA367361651	408	H>Y		No	ClinGen TOPMed
COSM1089884 rs749154733 CA4237812	409	G>S	Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA157880613 rs376270715	411	G>A		No	ClinGen Ensembl
rs774327041 CA4237814	411	G>W		No	ClinGen ExAC TOPMed gnomAD
CA367361735 rs1283138865	412	A>E		No	ClinGen gnomAD
TCGA novel	412	A>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1403801120 CA367361714	412	A>T		No	ClinGen gnomAD
CA4237815 rs759586614	413	Q>R		No	ClinGen ExAC TOPMed gnomAD
COSM1622882 rs137891711 CA4237816	414	R>C	Variant assessed as Somatic; 0.0 impact. liver [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA4237817 rs775745840	414	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA367361793 rs1339193725	415	G>S		No	ClinGen gnomAD
rs764745972 CA367361797	416	R>G		No	ClinGen ExAC TOPMed
CA4237819 rs368135596	416	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA4237818 rs764745972 COSM601269	416	R>W	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed
rs1483386411 CA367361843	419	M>V		No	ClinGen gnomAD
CA367361860 rs1317579397	420	Q>E		No	ClinGen TOPMed
rs1443597794 CA367361911	421	T>S		No	ClinGen gnomAD
rs765737584 CA4237839	422	G>S		No	ClinGen ExAC gnomAD
CA367361943 rs1457999090	424	T>A		No	ClinGen TOPMed gnomAD
CA4237840 rs750910635	424	T>I		No	ClinGen ExAC TOPMed gnomAD
rs1301699666 CA367361986	426	D>N		No	ClinGen TOPMed
rs373830686 CA4237842	427	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4237843 rs373830686	427	D>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1477494152 CA367362022	428	Y>*		No	ClinGen TOPMed
TCGA novel	428	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA367362005 rs1300007929	428	Y>D		No	ClinGen gnomAD
CA4237844 rs755705997	429	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs755705997 CA4237845	429	Y>S		No	ClinGen ExAC TOPMed gnomAD
rs143568325 CA4237846	430	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs143568325 CA157880773	430	D>V		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	431	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4237847 rs757009902	432	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA367362105 rs1323506309	433	W>*		No	ClinGen gnomAD
CA367362121 rs1180381396	434	C>R		No	ClinGen TOPMed
CA367362132 rs1260276340	434	C>Y		No	ClinGen gnomAD
rs1348448765 CA367362162	435	A>T		No	ClinGen gnomAD
rs376165441 CA4237851	436	E>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA4237852 rs747048648	436	E>A		No	ClinGen ExAC gnomAD
rs376165441 CA4237850	436	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs768830769 CA4237853	437	D>V		No	ClinGen ExAC TOPMed gnomAD
CA367362283 rs770224339	438	D>E		No	ClinGen ExAC TOPMed gnomAD
CA4237855 rs762147547	438	D>N		No	ClinGen ExAC TOPMed gnomAD
CA367362315 rs1180453014	440	R>G		No	ClinGen gnomAD
TCGA novel	440	R>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1583552698 CA367362329	441	T>P		No	ClinGen Ensembl
rs370857030 CA4237857	442	Q>E		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	442	Q>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
RCV000956478 CA4237858 rs61737461	444	I>L		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1450087116 CA367362430	445	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1583552718 CA367362458	446	V>G		No	ClinGen Ensembl
rs760068790 CA4237861	446	V>M		No	ClinGen ExAC TOPMed gnomAD
CA367362555 rs1583552733	450	R>G		No	ClinGen Ensembl
rs1306342939 CA367362558	450	R>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs375790313 CA367362573	450	R>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA367362581 rs1230100289	451	T>A		No	ClinGen gnomAD
CA367362598 rs1434230559	452	T>A		No	ClinGen gnomAD
rs753443704 CA4237864	452	T>I		No	ClinGen ExAC TOPMed gnomAD
rs753443704 CA367362604	452	T>N		No	ClinGen ExAC TOPMed gnomAD
CA4237865 rs753443704	452	T>S		No	ClinGen ExAC TOPMed gnomAD
rs144784842 RCV001310964 CA4237866	453	R>Q		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs1322486574 CA367362608	453	R>W		No	ClinGen TOPMed gnomAD
rs1181961999 CA367362652	455	T>A		No	ClinGen TOPMed
rs1194917037 CA367362666	456	G>S		No	ClinGen gnomAD
CA367362681 rs758274269	457	V>F		No	ClinGen ExAC TOPMed gnomAD
CA4237868 rs758274269	457	V>I		No	ClinGen ExAC TOPMed gnomAD
rs758274269 CA367362679	457	V>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel rs1583552802 CA367362701	459	T>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA Ensembl
CA367362713 rs1253323735	460	Q>E		No	ClinGen TOPMed
TCGA novel	460	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs199564337 CA4237869	461	G>D		No	ClinGen 1000Genomes ExAC gnomAD
rs764638169 CA157880791	462	R>K		No	ClinGen gnomAD
rs764638169 CA367362737	462	R>T		No	ClinGen gnomAD
CA367362742 rs1413356733	463	D>N		No	ClinGen gnomAD
rs1480428438 CA367362760	464	S>C		No	ClinGen gnomAD
rs1480428438 CA367362758	464	S>Y		No	ClinGen gnomAD
CA367362766 rs1196926365	465	S>C		No	ClinGen TOPMed
rs1174721162 CA367362769	465	S>N		No	ClinGen gnomAD
CA367362795 rs1346543844	467	H>R		No	ClinGen TOPMed gnomAD
CA367363850 rs1380674144	469	D>G		No	ClinGen TOPMed
rs150909656 CA4237890	469	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA367363914 rs1367996693	472	T>I		No	ClinGen gnomAD
CA157880951 rs1013035017	472	T>S		No	ClinGen TOPMed
CA367363926 rs139397017	473	T>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4237891 rs139397017	473	T>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA367363965 rs1400236748	475	F>S		No	ClinGen TOPMed
rs1168723069 CA367363975	476	V>L		No	ClinGen TOPMed
CA367364037 rs1343821996	480	N>S		No	ClinGen gnomAD
CA157880962 rs1054155793	484	T>S		No	ClinGen TOPMed gnomAD
rs771147260 CA4237894	487	M>I		No	ClinGen ExAC gnomAD
CA4237893 rs749553007	487	M>R		No	ClinGen ExAC TOPMed gnomAD
CA157880965 rs749553007	487	M>T		No	ClinGen ExAC TOPMed gnomAD
CA367364181 rs1168121786	488	Y>F		No	ClinGen TOPMed
CA157880994 rs1006949301	491	G>S		No	ClinGen Ensembl
CA157880997 rs199596276	492	Y>*		No	ClinGen 1000Genomes
TCGA novel	494	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4237897 rs772566263	495	M>K		No	ClinGen ExAC gnomAD
CA4237898 rs772566263	495	M>T		No	ClinGen ExAC gnomAD
CA367364315 rs1488982708	495	M>V		No	ClinGen gnomAD
CA4237913 rs746234188	496	T>A		No	ClinGen ExAC TOPMed gnomAD
rs772476113 CA4237914	496	T>I		No	ClinGen ExAC gnomAD
CA4237916 rs780509686	498	H>L		No	ClinGen ExAC gnomAD
CA367365098 rs376721512 CA157881039	498	H>Q		No	ClinGen ESP gnomAD
rs780509686 CA4237915	498	H>R		No	ClinGen ExAC gnomAD
rs772782353 CA4237918	501	V>M		No	ClinGen ExAC TOPMed gnomAD
rs150055229 CA4237919	503	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	504	D>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs370022508 CA4237920	505	T>A		No	ClinGen ESP ExAC gnomAD
rs773923688 CA4237921	506	P>S		No	ClinGen ExAC TOPMed gnomAD
COSM1244566 rs372825522 CA4237922	507	V>M	oesophagus [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs374647057 CA4237923	509	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA4237924 rs752628184	510	E>*		No	ClinGen ExAC gnomAD
CA367365332 rs1238069675	510	E>G		No	ClinGen gnomAD
CA367365326 rs752628184	510	E>Q		No	ClinGen ExAC gnomAD
TCGA novel	512	P>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1349953242 CA367365346	512	P>S		No	ClinGen gnomAD
CA4237925 rs200076938	514	P>L		No	ClinGen ExAC TOPMed gnomAD
CA4237929 rs779176105	515	V>A		No	ClinGen ExAC gnomAD
CA4237928 rs753952775	515	V>L		No	ClinGen ExAC gnomAD
CA4237927 rs753952775	515	V>M		No	ClinGen ExAC gnomAD
rs750684335 CA4237930	518	R>H		No	ClinGen ExAC TOPMed gnomAD
rs750684335 CA367365400	518	R>P		No	ClinGen ExAC TOPMed gnomAD
CA157881071 rs923029607	520	I>V		No	ClinGen TOPMed gnomAD
CA4237932 rs780419524	521	R>C		No	ClinGen ExAC gnomAD
CA4237933 rs747457242	521	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs540181925 CA157881083	522	I>T		No	ClinGen 1000Genomes
CA367365487 rs1583553397	523	Y>S		No	ClinGen Ensembl
rs1343332203 CA367365615	530	S>N		No	ClinGen gnomAD
rs1221090645 CA367365622	530	S>R		No	ClinGen gnomAD
rs1316397772 CA367365608	530	S>R		No	ClinGen TOPMed
rs141206792 CA157881090	534	R>C		No	ClinGen ESP gnomAD
rs748807608 CA4237936 COSM1673155	534	R>H	ovary Variant assessed as Somatic; 4.665e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1583553425 CA367365700	537	V>G		No	ClinGen Ensembl
rs1254120839 CA367365702	538	L>M		No	ClinGen gnomAD
rs1583553434 CA367365726	540	C>G		No	ClinGen Ensembl
CA367365731 rs1483338543	540	C>S		No	ClinGen TOPMed gnomAD
rs923882594 CA157881097	544	P>S		No	ClinGen TOPMed gnomAD
rs143744776 CA4237954	545	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs143744776 CA4237953	545	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA157881158 rs868702419	546	Y>C		No	ClinGen Ensembl
CA4237955 rs778574670	547	S>G		No	ClinGen ExAC gnomAD
CA367366245 rs376114999	550	A>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs376114999 CA4237957	550	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA4237958 rs775344638	553	E>D		No	ClinGen ExAC TOPMed gnomAD
rs746781450 CA4237959	554	V>L		No	ClinGen ExAC gnomAD
CA367366321 rs1365969703	555	V>A		No	ClinGen gnomAD
TCGA novel	556	A>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs768379506 CA4237960	556	A>S		No	ClinGen ExAC TOPMed gnomAD
CA4237962 rs143113716	558	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs1026802162 CA157881175	559	D>G		No	ClinGen TOPMed
rs1369447631 CA367366387	561	D>N		No	ClinGen gnomAD
CA157881177 rs1006189122	563	R>Q		No	ClinGen TOPMed gnomAD
CA4237963 rs199515795	563	R>W		No	ClinGen ExAC TOPMed gnomAD
CA367366419 rs1463383581	565	H>Q		No	ClinGen TOPMed gnomAD
TCGA novel	565	H>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs148240925 CA4237964	566	S>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs1248286259 CA367366422	566	S>N		No	ClinGen gnomAD
rs547345786 CA4237965	566	S>R		No	ClinGen 1000Genomes ExAC gnomAD
rs1188559457 CA367366430	567	Y>C		No	ClinGen TOPMed
rs1188559457 CA367366429	567	Y>S		No	ClinGen TOPMed
rs140411744 CA4237967	570	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs200867650 CA4237968	571	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA157881193 rs200212819	572	Q>H		No	ClinGen 1000Genomes
rs894801248 CA157881187	572	Q>R		No	ClinGen Ensembl
rs368488702 CA157881391	576	V>M		No	ClinGen ESP TOPMed gnomAD
rs200666867 CA157881394	577	V>M		No	ClinGen TOPMed gnomAD
CA367366513 rs1406931916	578	N>D		No	ClinGen TOPMed
rs747872047 CA4237998	579	E>G		No	ClinGen ExAC gnomAD
CA4237997 rs765778651	579	E>K		No	ClinGen ExAC TOPMed gnomAD
rs765778651 CA367366520	579	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs769614335 CA4237999	580	E>G		No	ClinGen ExAC gnomAD
TCGA novel	582	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1230529407 CA367366542	582	P>S		No	ClinGen gnomAD
rs749244731 CA4238001	583	T>I		No	ClinGen ExAC gnomAD
CA367366554 rs1483260947	584	I>N		No	ClinGen gnomAD
CA4238003 rs774295668	586	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA367366566 rs1184993953	586	R>H		No	ClinGen gnomAD
rs1433003246 CA367366574	587	T>I		No	ClinGen gnomAD
CA157881419 rs958099728	591	G>S		No	ClinGen Ensembl
rs1379568394 CA367366608	592	K>N		No	ClinGen gnomAD
RCV002222785 rs1168034376 CA367366624	595	R>*		No	ClinGen ClinVar dbSNP gnomAD
rs775833835 CA367366625	595	R>P		No	ClinGen ExAC gnomAD
rs775833835 CA4238006	595	R>Q		No	ClinGen ExAC gnomAD
TCGA novel	596	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4238007 rs760919744	597	L>F		No	ClinGen ExAC TOPMed gnomAD
CA4238008 rs137956957	599	I>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA367366663 rs754348994	601	A>D		No	ClinGen ExAC gnomAD
CA4238009 rs754348994	601	A>V		No	ClinGen ExAC gnomAD
TCGA novel	603	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1271790813 CA367366714	608	P>H		No	ClinGen gnomAD
CA367366721 rs1343690549	609	G>A		No	ClinGen gnomAD
rs762423489 CA4238010	610	E>A		No	ClinGen ExAC gnomAD
TCGA novel	612	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA367366747 rs1488469212	613	L>V		No	ClinGen gnomAD
CA4238037 rs753613874	614	G>E		No	ClinGen ExAC gnomAD
rs757089547 CA4238038	615	E>K		No	ClinGen ExAC gnomAD
rs778687893 CA4238039	616	P>S		No	ClinGen ExAC gnomAD
CA157881589 rs906171089	617	E>K		No	ClinGen gnomAD
rs745852024 CA4238040	618	F>C		No	ClinGen ExAC TOPMed gnomAD
CA4238041 rs758365757	619	R>C		No	ClinGen ExAC gnomAD
rs143372513 CA4238042	619	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs747161832 CA4238043	620	Y>F		No	ClinGen ExAC gnomAD
rs1313007460 CA367366861	622	A>T		No	ClinGen TOPMed gnomAD
TCGA novel	622	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1331670865 CA367366892	624	I>M		No	ClinGen gnomAD
CA367366886 rs1286832097	624	I>V		No	ClinGen TOPMed gnomAD
CA157881615 rs999314482	627	N>K		No	ClinGen gnomAD
rs1052609218 CA157881621	628	E>D		No	ClinGen Ensembl
CA4238046 rs777052714	629	V>G		No	ClinGen ExAC gnomAD
CA367366968 rs748490572	632	R>*		No	ClinGen ExAC gnomAD
CA4238047 rs748490572	632	R>G		No	ClinGen ExAC gnomAD
CA367366974 rs770223691	632	R>L		No	ClinGen ExAC TOPMed gnomAD
rs770223691 CA4238048	632	R>P		No	ClinGen ExAC TOPMed gnomAD
CA4238049 rs770223691	632	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs766868314 CA4238051	633	E>D		No	ClinGen ExAC gnomAD
rs1018087306 CA157881639	633	E>Q		No	ClinGen Ensembl
TCGA novel	634	L>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4238053 rs760232876	635	L>F		No	ClinGen ExAC gnomAD
rs763711359 CA367367033	636	L>V		No	ClinGen ExAC gnomAD
rs1171586124 CA367367067	638	L>F		No	ClinGen gnomAD
rs963970151 CA157881674	640	Q>H		No	ClinGen TOPMed gnomAD
rs1409686828 CA367367185	643	C>W		No	ClinGen gnomAD
CA367367187 rs1306721597	644	R>G		No	ClinGen gnomAD
CA157881675 rs375474488	644	R>L		No	ClinGen ESP TOPMed gnomAD
CA367367194 rs375474488	644	R>P		No	ClinGen ESP TOPMed gnomAD
CA367367191 rs375474488	644	R>Q		No	ClinGen ESP TOPMed gnomAD
rs1443361650 CA367367203	645	E>Q		No	ClinGen gnomAD
CA4238058 rs750273743	646	Y>F		No	ClinGen ExAC gnomAD
rs765106238 CA4238057	646	Y>H		No	ClinGen ExAC gnomAD
rs11770649 CA157881687 VAR_043119	648	D>E		No	ClinGen UniProt Ensembl dbSNP
CA4238060 rs779923819	648	D>H		No	ClinGen ExAC gnomAD
rs747074102 CA4238061	648	D>V		No	ClinGen ExAC TOPMed gnomAD
rs1185483087 CA367367309	650	N>Y		No	ClinGen Ensembl
rs755159469 CA4238062	651	P>L		No	ClinGen ExAC TOPMed gnomAD
CA367367360 rs1276713769 COSM1450887	652	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA4238063 rs781523805	652	R>H		No	ClinGen ExAC gnomAD
COSM1450888 CA367367401 rs1244508507	654	R>C	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA4238064 rs748402393	654	R>H		No	ClinGen ExAC TOPMed gnomAD
CA367367411 rs748402393	654	R>L		No	ClinGen ExAC TOPMed gnomAD
rs1423611366 CA367367418	655	S>G		No	ClinGen TOPMed
CA4238065 rs769995767	656	L>V		No	ClinGen ExAC gnomAD
CA4238066 rs374944511	659	D>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs749678502 CA367367544	661	R>C		No	ClinGen ExAC gnomAD
CA4238067 rs749678502	661	R>G		No	ClinGen ExAC gnomAD
COSM453093 CA4238068 rs771452124	661	R>H	Variant assessed as Somatic; 0.0 impact. haematopoietic_and_lymphoid_tissue breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs774886394 CA367367571	662	I>F		No	ClinGen ExAC TOPMed gnomAD
CA4238069 rs774886394	662	I>L		No	ClinGen ExAC TOPMed gnomAD
CA4238070 rs760144578	662	I>N		No	ClinGen ExAC gnomAD
CA157881739 rs199581509	663	H>N		No	ClinGen 1000Genomes
rs1411085243 CA367367679	666	P>L		No	ClinGen gnomAD
rs768189740 CA4238071	667	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA367367716 rs1443296330	669	N>K		No	ClinGen TOPMed gnomAD
CA4238074 rs181697573	673	Y>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs184719396 CA4238076	674	E>K		No	ClinGen 1000Genomes ExAC gnomAD
rs755057368 CA4238079	676	A>V		No	ClinGen ExAC gnomAD
CA367367824 rs1287393755	677	A>V		No	ClinGen gnomAD
CA367367830 rs1562688185	678	Q>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs781434157 CA4238080	679	M>I		No	ClinGen ExAC TOPMed gnomAD
CA4238106 rs746310560	681	S>P		No	ClinGen ExAC gnomAD
CA367368011 rs1583554610	683	F>V		No	ClinGen Ensembl
rs201455144 CA4238109	686	W>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4238108 rs780595666	686	W>R		No	ClinGen ExAC gnomAD
rs934991572 CA157881923	687	A>E		No	ClinGen gnomAD
rs934991572 CA367368100	687	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs772870237 CA4238111	689	G>E		No	ClinGen ExAC gnomAD
rs1562688274 CA367368136	690	L>V		No	ClinGen Ensembl
rs1343912630 CA367368168	691	W>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA367368207 rs1412366043	694	E>Q		No	ClinGen TOPMed
TCGA novel	698	I>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1259084830 CA367368328	701	D>H		No	ClinGen TOPMed gnomAD
rs1259084830 CA367368325	701	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA4238115 rs573450140	702	F>S		No	ClinGen 1000Genomes ExAC gnomAD
rs1471831267 CA367368380	704	D>Y		No	ClinGen gnomAD
COSM1450889 rs1479557677 CA367368411	705	L>V	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
TCGA novel	706	N>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs200174513 CA4238118	706	N>I		No	ClinGen 1000Genomes ExAC gnomAD
CA4238117 rs759458369	706	N>Y		No	ClinGen ExAC gnomAD
CA367368499 rs1170885172	709	L>F		No	ClinGen gnomAD
rs1415250210 CA367368530	710	W>*		No	ClinGen gnomAD
rs775327422 CA4238119	710	W>G		No	ClinGen ExAC TOPMed gnomAD
CA367368512 rs775327422	710	W>R		No	ClinGen ExAC TOPMed gnomAD
rs760765739 CA4238120	711	G>R		No	ClinGen ExAC TOPMed gnomAD
CA4238121 rs764105701	712	A>D		No	ClinGen ExAC gnomAD
rs1307490420 CA367368564	713	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1330142614 CA367368580	714	E>K		No	ClinGen gnomAD
rs1281770468 COSM1673156 CA367368690	717	W>*	prostate [Cosmic]	No	ClinGen cosmic curated gnomAD
CA4238123 rs374341905	717	W>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA367368694 rs1347974341	718	V>I		No	ClinGen gnomAD
CA367368710 rs1212169949	719	P>T		No	ClinGen gnomAD
rs1226886035 CA367368758	720	Y>C		No	ClinGen TOPMed gnomAD
TCGA novel	720	Y>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4238127 rs758812174	721	R>Q		No	ClinGen ExAC gnomAD
rs750773968 CA4238126	721	R>W		No	ClinGen ExAC gnomAD
CA4238129 rs747502818	723	P>S		No	ClinGen ExAC gnomAD
rs377753845 CA157882007	724	N>S		No	ClinGen ESP TOPMed gnomAD
TCGA novel	724	N>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs755589939 CA4238131	725	N>K		No	ClinGen ExAC gnomAD
rs562206142 CA4238132	728	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4238133 rs145884426	732	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA367369094 rs1037829524	732	R>H		No	ClinGen TOPMed gnomAD
CA157882059 rs1037829524	732	R>P		No	ClinGen TOPMed gnomAD
rs774192457 CA4238134	733	Y>H		No	ClinGen ExAC gnomAD
rs745623681 CA4238135	735	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1384643789 CA367369170	736	P>S		No	ClinGen gnomAD
CA367369203 rs1583554813	737	D>V		No	ClinGen Ensembl
rs1360578790 CA367369222	738	A>G		No	ClinGen TOPMed
CA4238136 rs772020842	739	T>M		No	ClinGen ExAC TOPMed gnomAD
rs1231811518 CA367369366	740	V>I		No	ClinGen gnomAD
CA367369371 rs1231811518	740	V>L		No	ClinGen gnomAD
rs1161562447 CA367369401	741	S>C		No	ClinGen TOPMed
CA157882221 rs754107731	742	T>K		No	ClinGen gnomAD
rs754107731 CA367369425	742	T>M		No	ClinGen gnomAD
CA367369490 rs1583555079	744	V>G		No	ClinGen Ensembl
rs138705367 CA4238160	745	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs138705367 CA4238159	745	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	745	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs746892337 CA4238161	746	A>T		No	ClinGen ExAC gnomAD
CA367369516 rs1303854981	746	A>V		No	ClinGen gnomAD
CA4238162 rs768469274	747	I>T		No	ClinGen ExAC TOPMed gnomAD
rs761851337 CA4238164	748	I>T		No	ClinGen ExAC
rs769893776 CA4238165	749	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1166812567 CA367369568	749	A>V		No	ClinGen gnomAD
CA367369615 CA367369619 rs1418325938	751	M>I		No	ClinGen TOPMed gnomAD
rs780700423	753	K>missing	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA157882235 rs1035125334	753	K>R		No	ClinGen TOPMed gnomAD
rs1583555126 CA367369671	754	N>T		No	ClinGen Ensembl
CA4238167 rs773376868	755	P>A		No	ClinGen ExAC TOPMed gnomAD
rs773376868 COSM3366936 CA367369680	755	P>T	kidney [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs763164396 CA4238168	758	L>P		No	ClinGen ExAC gnomAD
rs766689917 CA4238169	759	G>R		No	ClinGen ExAC gnomAD
CA367369802 rs1290345389	761	N>S		No	ClinGen TOPMed
CA157882251 rs1050913208	762	L>V		No	ClinGen TOPMed gnomAD
rs201912634 CA4238173	766	E>Q		No	ClinGen ESP ExAC gnomAD
rs778576728 CA4238175	769	V>A		No	ClinGen ExAC TOPMed gnomAD
CA367370672 rs1583555201	770	S>F		No	ClinGen Ensembl
rs1583555211 CA367370678	771	Y>S		No	ClinGen Ensembl
rs1257918873 CA367370684	772	P>H		No	ClinGen gnomAD
rs1257918873 CA367370685	772	P>R		No	ClinGen gnomAD
CA367370683 rs1348320432	772	P>S		No	ClinGen TOPMed
CA367370693 rs1175319275	773	Y>C		No	ClinGen gnomAD
rs1401000458 CA367370715	774	D>N		No	ClinGen gnomAD
rs922023775 CA157883234	775	M>K		No	ClinGen TOPMed gnomAD
rs922023775 CA367370737	775	M>T		No	ClinGen TOPMed gnomAD
CA4238177 rs144799697 COSM485358	776	A>V	lung kidney [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA367370760 rs779817458	777	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs779817458 CA4238178	777	R>G		No	ClinGen ExAC TOPMed gnomAD
rs1315390858 CA367370761	777	R>H		No	ClinGen gnomAD
rs1315390858 CA367370765	777	R>L		No	ClinGen gnomAD
CA4238179 rs746762676	778	T>K		No	ClinGen ExAC TOPMed gnomAD
rs746762676 CA367370776	778	T>M		No	ClinGen ExAC TOPMed gnomAD
CA367370781 rs781069447	779	P>H		No	ClinGen ExAC gnomAD
CA4238181 rs781069447	779	P>R		No	ClinGen ExAC gnomAD
CA4238183 rs769797324	780	T>A		No	ClinGen ExAC gnomAD
CA367370784 rs769797324	780	T>P		No	ClinGen ExAC gnomAD
CA4238184 rs773274347	781	Q>E		No	ClinGen ExAC gnomAD
CA367370816 rs1160400679	782	E>A		No	ClinGen TOPMed
rs1212874577 CA367370837	783	Q>*		No	ClinGen gnomAD
CA4238187 rs774670286	786	A>S		No	ClinGen ExAC gnomAD
CA4238188 rs759775732	787	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA4238189 rs200626782	788	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA367370909 rs765434647	789	M>L		No	ClinGen gnomAD
CA157883294 rs765434647	789	M>V		No	ClinGen gnomAD
COSM1549779 rs1392674917 CA367370938	791	A>T	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs1455207033 CA367370963	792	A>V		No	ClinGen gnomAD
CA367370965 rs1204407049	793	R>G		No	ClinGen gnomAD
CA367370969 rs374013273	793	R>L		No	ClinGen ExAC TOPMed gnomAD
CA4238191 rs374013273	793	R>P		No	ClinGen ExAC TOPMed gnomAD
CA4238190 rs374013273	793	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA4238195 rs779545560	794	G>R		No	ClinGen ExAC gnomAD
rs751259605 CA4238196	795	E>K		No	ClinGen ExAC gnomAD
CA367370990 rs751259605	795	E>Q		No	ClinGen ExAC gnomAD
rs1236553720 CA367371016	796	D>E		No	ClinGen gnomAD
CA367371006 rs1302981345	796	D>N		No	ClinGen gnomAD
CA4238197 rs754683649	796	D>V		No	ClinGen ExAC gnomAD
rs1003733040 CA157883318	797	E>D		No	ClinGen TOPMed gnomAD
CA4238198 rs150691639	797	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs150691639 CA4238199	797	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA4238200 rs756029178	798	D>N		No	ClinGen ExAC gnomAD
rs777733774 CA4238201	799	E>Q		No	ClinGen ExAC gnomAD
rs1433468410 CA367371059	800	V>F		No	ClinGen TOPMed
rs1031812172 CA157883330	802	E>G		No	ClinGen Ensembl
TCGA novel	804	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4238204 rs774385977	804	Q>L		No	ClinGen ExAC TOPMed
rs1220305343 CA367371136	805	E>*		No	ClinGen gnomAD
rs746113798 CA4238206	806	T>I		No	ClinGen ExAC
CA367371167 rs1469567137	807	P>L		No	ClinGen gnomAD
CA4238207 rs772495808	807	P>T		No	ClinGen ExAC TOPMed gnomAD
CA367371178 rs1193707756	808	D>G		No	ClinGen gnomAD
CA367371215 rs1475336464	810	A>V		No	ClinGen gnomAD
rs1166696626 CA367371236	812	F>V		No	ClinGen gnomAD
rs1410858926 CA367371251	813	R>W		No	ClinGen TOPMed gnomAD
rs140025413 CA4238210	815	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs764677143 CA4238211	816	A>T		No	ClinGen ExAC gnomAD
CA367371284 rs1443459761	817	I>F		No	ClinGen gnomAD
CA367371283 rs1443459761	817	I>V		No	ClinGen gnomAD
CA367371292 rs1325932143	818	S>F		No	ClinGen TOPMed gnomAD
CA4238212 rs777318344	819	F>V		No	ClinGen ExAC TOPMed gnomAD
rs762334656 CA4238213	822	A>S		No	ClinGen ExAC gnomAD
rs1583555477 CA367371322	823	H>P		No	ClinGen Ensembl
CA4238215 rs751118693	824	L>V		No	ClinGen ExAC gnomAD
CA4238217 rs767212365	826	L>F		No	ClinGen ExAC gnomAD
CA4238218 rs752463790	828	E>K		No	ClinGen ExAC gnomAD
rs867141008 CA157883365	829	P>L		No	ClinGen Ensembl
rs867141008 CA367371390	829	P>R		No	ClinGen Ensembl
CA4238219 rs143544464	829	P>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs975036301 CA157883367	831	R>H		No	ClinGen gnomAD
rs921023366 CA157883372	832	G>*		No	ClinGen Ensembl
rs757225724 CA4238222	836	A>G		No	ClinGen ExAC gnomAD
rs1463152191 CA367371486	837	Q>R		No	ClinGen gnomAD
rs1380578814 CA367371499	838	D>V		No	ClinGen TOPMed gnomAD
rs746004242 CA4238225	839	Y>C		No	ClinGen ExAC gnomAD
CA367371538 rs1414152215	841	G>D		No	ClinGen gnomAD
TCGA novel	842	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs775904599 CA4238228	842	G>S		No	ClinGen ExAC gnomAD
CA367371554 rs1583555608	843	M>L		No	ClinGen Ensembl
rs1233471678 CA367371573	844	G>C		No	ClinGen gnomAD
rs200145109 CA4238230	846	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs769179089 CA4238231	847	N>S		No	ClinGen ExAC gnomAD
CA367371623 rs1488871917	848	G>E		No	ClinGen gnomAD
CA367371649 rs1246310314	850	K>M		No	ClinGen TOPMed gnomAD
rs776958205 CA4238232	852	N>K		No	ClinGen ExAC gnomAD
rs201478823 CA4238233	854	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs201478823 CA367371699	854	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1316506357 CA367371696	854	R>W		No	ClinGen gnomAD
CA4238235 rs540773266	855	T>I		No	ClinGen 1000Genomes ExAC gnomAD
CA367371719 rs1451981425 CA367371717	856	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1387152004 CA367371822	858	I>M		No	ClinGen gnomAD
CA4238255 rs773629322	859	N>S		No	ClinGen ExAC TOPMed gnomAD
rs139591184 CA4238256	861	F>L		No	ClinGen ESP ExAC gnomAD
CA4238257 rs771592255	862	S>G		No	ClinGen ExAC gnomAD
rs200012664 CA4238259	864	L>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA367371919 rs1583555889	867	N>K		No	ClinGen Ensembl
CA157883496 rs1044342296	867	N>S		No	ClinGen gnomAD
rs145586647 CA367371934	868	C>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4238261 rs753655236	869	L>R		No	ClinGen ExAC gnomAD
CA367371948 rs1479880253	870	E>Q		No	ClinGen TOPMed gnomAD
CA4238262 rs761564065	873	F>V		No	ClinGen ExAC gnomAD
rs765190086 CA4238263	874	Y>H		No	ClinGen ExAC gnomAD
CA4238264 rs750359499	876	G>D		No	ClinGen ExAC gnomAD
CA4238266 rs780297697	879	K>Q		No	ClinGen ExAC gnomAD
CA4238267 rs751767894	880	F>S		No	ClinGen ExAC gnomAD
CA4238268 rs755249362	882	H>R		No	ClinGen ExAC gnomAD
CA4238269 rs781315182	884	S>N		No	ClinGen ExAC gnomAD
CA4238270 rs748511270	886	L>V		No	ClinGen ExAC TOPMed gnomAD
rs749808468 CA4238273	887	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA4238274 rs771502434	888	R>H		No	ClinGen ExAC
rs763140394	893	N>missing	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs1295470855 CA367372313	893	N>K		No	ClinGen TOPMed gnomAD
CA4238275 rs774974678	895	E>G		No	ClinGen ExAC TOPMed gnomAD
rs774974678 CA4238276	895	E>V		No	ClinGen ExAC TOPMed gnomAD
rs1334371879 CA367372360	897	L>P		No	ClinGen gnomAD
CA157883560 rs1032280603	898	L>F		No	ClinGen gnomAD
rs1186050389 CA367372412	901	M>K		No	ClinGen gnomAD
CA4238301 rs769570422	905	H>Y		No	ClinGen ExAC gnomAD
rs1470468110 CA367372531	907	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	910	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs774458916 CA4238305	911	V>L		No	ClinGen ExAC TOPMed gnomAD
rs986551502 CA157883667	913	T>M		No	ClinGen Ensembl
rs759608097 CA4238307	914	D>A		No	ClinGen ExAC TOPMed gnomAD
CA367372620 rs1266582295	914	D>E		No	ClinGen TOPMed
rs1385927635 CA367372622	915	E>K		No	ClinGen TOPMed gnomAD
CA4238309 rs752896781	917	G>D		No	ClinGen ExAC TOPMed gnomAD
CA367372669 rs1409475470	918	I>F		No	ClinGen gnomAD
rs1439754976 CA367372673	918	I>N		No	ClinGen gnomAD
CA4238311 rs764355896	919	P>L		No	ClinGen ExAC gnomAD
rs764355896 CA4238312	919	P>R		No	ClinGen ExAC gnomAD
rs200487092 CA4238313	920	I>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA367372700 rs1360110930	921	A>T		No	ClinGen gnomAD
CA4238316 rs746396415	922	N>K		No	ClinGen ExAC TOPMed gnomAD
CA367372740 rs1379457020	923	A>G		No	ClinGen gnomAD
CA4238319 rs747764767	925	I>M		No	ClinGen ExAC gnomAD
CA4238320 rs769319889	927	V>M		No	ClinGen ExAC gnomAD
CA157883702 rs939865690	933	G>S		No	ClinGen TOPMed
CA4238323 rs770869959	934	V>L		No	ClinGen ExAC gnomAD
CA4238342 rs778846203	937	A>G		No	ClinGen ExAC gnomAD
rs75837861 CA157883818	946	L>F		No	ClinGen Ensembl
CA157883834 rs898195560	950	E>G		No	ClinGen TOPMed
rs775535737 CA4238345	950	E>K		No	ClinGen ExAC TOPMed gnomAD
rs996412633 COSM1549778 CA157883840	952	R>S	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated Ensembl NCI-TCGA
CA4238347 rs768748317	953	V>L		No	ClinGen ExAC TOPMed gnomAD
rs768748317 CA4238348	953	V>M		No	ClinGen ExAC TOPMed gnomAD
CA367373200 rs757167277	954	T>I		No	ClinGen ExAC TOPMed gnomAD
CA4238349 rs757167277	954	T>R		No	ClinGen ExAC TOPMed gnomAD
CA4238350 rs765514256	955	A>G		No	ClinGen ExAC gnomAD
CA367373203 rs1265736696	955	A>T		No	ClinGen gnomAD
CA367373215 rs1554328197	956	H>D		No	ClinGen Ensembl
rs1163849606 CA367373236	957	A>E		No	ClinGen gnomAD
rs1473933290 CA367373230 COSM290420	957	A>T	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA367373271 rs1299984058	960	Y>H		No	ClinGen gnomAD
rs763426918 CA4238353	960	Y>S		No	ClinGen ExAC gnomAD
rs755625381 CA4238356	961	T>I		No	ClinGen ExAC TOPMed gnomAD
CA4238355 rs752126244	961	T>P		No	ClinGen ExAC gnomAD
CA4238358 rs143605377	962	P>L		No	ClinGen ESP ExAC gnomAD
CA367373322 rs1218228449	963	S>R		No	ClinGen gnomAD
TCGA novel	965	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA157883896 rs955057830	965	K>T		No	ClinGen TOPMed gnomAD
CA367373376 rs1488943820	968	N>H		No	ClinGen gnomAD
rs1254521339 CA367373407	970	D>G		No	ClinGen gnomAD
CA4238360 rs778674166	970	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA157883902 rs372595583	971	Y>*		No	ClinGen ESP TOPMed
CA157883901 rs908286931	971	Y>C		No	ClinGen gnomAD
CA367373422 rs908286931	971	Y>F		No	ClinGen gnomAD
rs908286931 CA367373421	971	Y>S		No	ClinGen gnomAD
rs1326880044 CA367373435	972	D>G		No	ClinGen TOPMed
rs771934431 CA4238362 COSM1330617	974	G>R	ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1380836883 CA367373470	975	A>D		No	ClinGen gnomAD
CA367373472 rs1380836883	975	A>G		No	ClinGen gnomAD
rs961385876 CA157883905	975	A>T		No	ClinGen gnomAD
CA4238363 rs779809409	976	T>A		No	ClinGen ExAC TOPMed gnomAD
rs1388995396 CA367373483	976	T>I		No	ClinGen TOPMed
rs1310778895 CA367373485	977	Q>K		No	ClinGen gnomAD
CA4238364 rs746980690	977	Q>R		No	ClinGen ExAC gnomAD
CA367373535 rs776691425	980	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs367704352 CA4238365	980	F>S		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	981	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA367373569 rs1241681062	982	L>P		No	ClinGen gnomAD
rs1309432131 CA367373575	983	A>P		No	ClinGen gnomAD
rs1354983673 COSM188917 CA367373610	984	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA367373637 rs1302009894	986	N>S		No	ClinGen gnomAD
rs773525923 CA4238369	987	W>*		No	ClinGen ExAC gnomAD
rs948663263 CA157883911	991	R>W		No	ClinGen Ensembl
CA4238370 rs763175528	992	E>K		No	ClinGen ExAC TOPMed gnomAD
CA4238371 rs766777874	993	I>N		No	ClinGen ExAC TOPMed gnomAD
CA367373786 rs1583557080	994	M>I		No	ClinGen Ensembl
rs760112886 CA4238373	994	M>T		No	ClinGen ExAC
CA4238374 rs551347012	996	M>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1180572882 CA367373830	997	N>D		No	ClinGen gnomAD
CA4238376 rs200154504	998	G>E		No	ClinGen 1000Genomes ExAC gnomAD
CA157883929 CA4238375 rs753375693	998	G>R		No	ClinGen ExAC gnomAD
CA367373867 rs1196089498	999	N>Y		No	ClinGen TOPMed
rs764755485 CA4238377	1000	R>W		No	ClinGen ExAC TOPMed gnomAD
VAR_043120 rs4724285 CA157883966	1001	P>L		No	ClinGen UniProt Ensembl dbSNP
rs750113954 CA4238378	1002	I>V		No	ClinGen ExAC gnomAD
rs758073514 CA4238379	1003	P>S		No	ClinGen ExAC gnomAD
rs779903278 CA4238380	1004	H>D		No	ClinGen ExAC gnomAD
CA367373961 rs1448553540	1005	I>R		No	ClinGen gnomAD
CA367373991 rs1369645983	1007	P>A		No	ClinGen gnomAD
rs1440748803 CA367374011	1008	S>*		No	ClinGen gnomAD
rs746874490 CA4238381	1009	R>C		No	ClinGen ExAC TOPMed gnomAD
rs1314503886 CA367374042	1010	P>L		No	ClinGen gnomAD
CA4238383 rs781160515	1011	M>R		No	ClinGen ExAC gnomAD
CA4238385 rs748198860	1012	T>I		No	ClinGen ExAC TOPMed gnomAD
CA367374090 rs748198860	1012	T>N		No	ClinGen ExAC TOPMed gnomAD
rs769951739 CA4238386	1013	P>S		No	ClinGen ExAC gnomAD
rs767004468	1014	Q>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs200791707 CA4238390	1015	Q>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs200791707 CA367374137	1015	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	1016	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs749528497 CA4238391	1016	R>Q		No	ClinGen ExAC gnomAD
TCGA novel	1017	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4238392 rs542674696 COSM1187293	1017	R>H	lung [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs542674696 CA367374168	1017	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4238394 rs760027125	1020	Q>E		No	ClinGen ExAC gnomAD
rs755132794	1020	Q>missing	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs980706372 CA367374241	1021	R>L		No	ClinGen TOPMed gnomAD
rs980706372 CA157884039	1021	R>Q		No	ClinGen TOPMed gnomAD
CA367374256 rs1170503082	1022	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA367374257 rs1436033914	1022	R>H		No	ClinGen TOPMed
CA367374304 rs1170971388	1024	Q>R		No	ClinGen TOPMed gnomAD
CA367374334 rs1583557255	1025	H>R		No	ClinGen Ensembl
CA367374353 COSM3381940 rs1447611514	1026	R>C	pancreas [Cosmic]	No	ClinGen cosmic curated TOPMed
TCGA novel	1026	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs761358592 CA4238398	1026	R>P		No	ClinGen ExAC gnomAD
rs560842059 CA4238400	1028	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	1028	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4238403 rs758066208	1030	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs749979699 CA4238401	1030	R>W		No	ClinGen ExAC gnomAD
rs766008102 CA4238406	1031	A>G		No	ClinGen ExAC TOPMed gnomAD
CA4238404 RCV000881101 rs146344486	1031	A>T		No	ClinGen ClinVar 1000Genomes ESP TOPMed dbSNP gnomAD
rs766008102 CA4238407	1031	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1219444515 CA367374495	1032	Q>*		No	ClinGen gnomAD
CA367374518 rs1213375123	1032	Q>H		No	ClinGen TOPMed
CA367374546 rs1488726420	1033	M>I		No	ClinGen gnomAD
CA4238408 rs754811948	1034	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1204521134 CA367374559	1034	R>W		No	ClinGen gnomAD
CA157884083 rs534996461	1036	R>G		No	ClinGen ExAC TOPMed gnomAD
rs200356275 CA367374616	1036	R>L		No	ClinGen ExAC TOPMed gnomAD
rs200356275 COSM3698412 CA4238410	1036	R>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA4238409 rs534996461	1036	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs756077372 CA4238412	1037	R>C		No	ClinGen ExAC TOPMed gnomAD
CA367374621 rs756077372	1037	R>G		No	ClinGen ExAC TOPMed gnomAD
COSM1755287 rs1166216491 CA367374628	1037	R>H	Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA4238411 rs756077372	1037	R>S		No	ClinGen ExAC TOPMed gnomAD
rs749382269 CA367374670	1039	N>K		No	ClinGen ExAC gnomAD
rs1349965867 CA367374663	1039	N>T		No	ClinGen gnomAD
rs771161753 CA4238414	1040	A>T	Variant assessed as Somatic; 4.793e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA367374721 rs1359228245	1041	T>I		No	ClinGen gnomAD
rs376181075 CA4238416	1042	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs376181075 CA4238415	1042	T>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1279295571 CA367374750	1043	T>P		No	ClinGen gnomAD
CA4238417 rs772587354	1045	G>D		No	ClinGen ExAC
CA4238419 rs761249089	1047	H>D		No	ClinGen ExAC gnomAD
TCGA novel	1048	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4238420 rs549720969	1048	T>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs549720969 CA4238421	1048	T>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1256560995 CA367374936	1050	P>L		No	ClinGen gnomAD
CA4238424 rs751248636	1050	P>S		No	ClinGen ExAC gnomAD
CA4238425 rs532446849	1052	T>K		No	ClinGen 1000Genomes ExAC gnomAD
rs532446849 CA4238426	1052	T>M		No	ClinGen 1000Genomes ExAC gnomAD
rs1417968111 CA367375006	1057	P>L		No	ClinGen gnomAD
COSM1496594 rs1156373127 CA367375016	1059	T>A	kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA4238429 rs756062459	1060	T>I		No	ClinGen ExAC gnomAD
rs777617825 CA4238430	1064	T>I		No	ClinGen ExAC
rs201065802 CA367375108	1066	E>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4238431 rs201065802	1066	E>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs779228337 CA4238433	1068	W>*		No	ClinGen ExAC gnomAD
rs1168482228 CA367375177	1069	G>V		No	ClinGen TOPMed
rs746102175 CA4238434	1070	L>F		No	ClinGen ExAC TOPMed gnomAD
CA367375208 rs1310195199	1071	I>K		No	ClinGen gnomAD
CA157884212 rs1007903383	1071	I>L		No	ClinGen TOPMed gnomAD
rs772499492 CA4238435	1072	P>L		No	ClinGen ExAC TOPMed gnomAD
CA367375222 rs1480138471	1073	P>A		No	ClinGen gnomAD
rs1239468905 CA367375285	1076	A>D		No	ClinGen gnomAD
rs1176168955 CA367375282	1076	A>S		No	ClinGen gnomAD
rs1176168955 CA367375267	1076	A>T		No	ClinGen gnomAD
rs1239468905 CA367375288	1076	A>V		No	ClinGen gnomAD
rs1159805054 CA367375294	1077	G>S		No	ClinGen gnomAD
CA367375330 rs1244109530	1078	W>C		No	ClinGen gnomAD
rs1375753200 CA367375318	1078	W>L		No	ClinGen gnomAD
CA367375348 CA4238440 rs762489269	1079	E>D		No	ClinGen ExAC TOPMed gnomAD
CA4238439 rs138297087	1079	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA367375367 rs1248802979	1080	E>D		No	ClinGen gnomAD
CA367375374 rs1271422647	1081	S>A		No	ClinGen TOPMed gnomAD
COSM329120 CA4238442 rs773922921	1081	S>L	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1271422647 CA367375376	1081	S>T		No	ClinGen TOPMed gnomAD
CA367375397 rs1437777017	1082	E>A		No	ClinGen gnomAD
CA367375416 rs1329323014	1083	T>N		No	ClinGen gnomAD
CA4238443 rs759180130	1083	T>P		No	ClinGen ExAC gnomAD
rs752463964 CA4238445	1084	E>D		No	ClinGen ExAC TOPMed gnomAD
rs767212497 CA4238444	1084	E>K		No	ClinGen ExAC gnomAD
rs149601977 CA157884276	1085	T>I		No	ClinGen ESP TOPMed gnomAD
rs557803078 CA157884293	1090	V>E		No	ClinGen gnomAD
CA367375487 rs557803078	1090	V>G		No	ClinGen gnomAD
CA157884287 rs549409167	1090	V>M		No	ClinGen 1000Genomes gnomAD
rs566458131 CA157884297	1091	T>P		No	ClinGen Ensembl
rs928573843 CA157884301	1091	T>R		No	ClinGen Ensembl
CA367375505 rs760426300	1092	E>G		No	ClinGen ExAC TOPMed gnomAD
CA367375498 rs1259370784	1092	E>K		No	ClinGen gnomAD
CA4238447 rs760426300	1092	E>V		No	ClinGen ExAC TOPMed gnomAD
CA157884309 rs1002177683	1094	G>E		No	ClinGen TOPMed
rs764051275 CA4238448	1095	T>A		No	ClinGen ExAC gnomAD
rs757303196 CA4238452	1096	E>K		No	ClinGen ExAC TOPMed
rs779140448 CA4238453	1097	V>L		No	ClinGen ExAC gnomAD
rs1411300194 CA367375573	1098	E>V		No	ClinGen TOPMed
rs1475440456 CA367375580	1099	P>T		No	ClinGen TOPMed
rs758681931 CA4238456	1100	E>A		No	ClinGen ExAC TOPMed gnomAD
rs758681931 CA4238455	1100	E>G		No	ClinGen ExAC TOPMed gnomAD
CA4238454 rs750597902	1100	E>K		No	ClinGen ExAC gnomAD
CA157884370 rs567662804 COSM3366937	1102	G>E	kidney [Cosmic]	No	ClinGen cosmic curated 1000Genomes TOPMed
CA367375627 rs1583557706	1103	T>A		No	ClinGen Ensembl
rs1221409096 COSM3230838 CA367375636	1104	K>E	kidney [Cosmic]	No	ClinGen cosmic curated TOPMed
CA367375643 rs1402780428	1104	K>M		No	ClinGen TOPMed gnomAD
rs1221409096 CA367375639	1104	K>Q		No	ClinGen TOPMed
rs538374901 CA157884380	1105	V>L		No	ClinGen 1000Genomes ExAC TOPMed
CA4238461 rs538374901	1105	V>M		No	ClinGen 1000Genomes ExAC TOPMed
CA367375677 rs1438525745	1107	P>L		No	ClinGen gnomAD
rs748620567 CA367375671	1107	P>S		No	ClinGen ExAC gnomAD
CA4238462 rs748620567	1107	P>T		No	ClinGen ExAC gnomAD
CA4238464 rs770349345	1108	E>G		No	ClinGen ExAC gnomAD
rs745428632 CA4238466	1110	E>D		No	ClinGen ExAC gnomAD
rs868197659 CA157884392	1110	E>G		No	ClinGen TOPMed
CA4238465 rs773833150	1110	E>K		No	ClinGen ExAC gnomAD
CA157884402 rs577844233	1112	Q>K		No	ClinGen 1000Genomes TOPMed
CA367375731 rs1279670369	1112	Q>R		No	ClinGen gnomAD
CA157884413 rs554059437	1113	L>V		No	ClinGen 1000Genomes TOPMed gnomAD
CA367375749 rs1287152567	1114	E>K		No	ClinGen gnomAD
CA4238468 rs775034917	1115	P>R		No	ClinGen ExAC gnomAD
rs938568095 CA157884420	1116	E>D		No	ClinGen TOPMed gnomAD
CA4238469 rs760468129	1117	F>L		No	ClinGen ExAC TOPMed gnomAD
CA367375864 rs1477687406	1120	Q>H		No	ClinGen TOPMed gnomAD
CA367375874 rs763809494	1121	L>V		No	ClinGen ExAC TOPMed gnomAD
rs776565766 CA4238471	1122	E>K		No	ClinGen ExAC gnomAD
CA367375912 rs1162667370	1123	P>T		No	ClinGen gnomAD
rs561000204 CA4238476	1124	E>D		No	ClinGen 1000Genomes ExAC TOPMed
CA4238474 rs988846112	1124	E>K		No	ClinGen TOPMed
CA157884428 rs988846112	1124	E>Q		No	ClinGen TOPMed
CA4238481 rs758593932	1128	E>*		No	ClinGen ExAC TOPMed gnomAD
CA367376039 rs758593932	1128	E>K		No	ClinGen ExAC TOPMed gnomAD
CA4238485 rs199622819	1130	E>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA157884495 rs961202251	1132	E>K		No	ClinGen TOPMed
CA367376121 rs961202251	1132	E>Q		No	ClinGen TOPMed
VAR_043121 rs13928 CA4238491	1133	K>E		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs752781581	1133	K>missing	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA4238494 rs748599377	1135	E>G		No	ClinGen ExAC gnomAD
CA367376230 rs1345990890	1135	E>K		No	ClinGen TOPMed
CA4238495 rs756589094	1136	E>K		No	ClinGen ExAC TOPMed gnomAD
CA4238496 rs778289008	1137	I>T		No	ClinGen ExAC gnomAD
CA367376394 rs1187132116	1138	A>D		No	ClinGen gnomAD
CA573788977 rs1163980583	1146	T>*		No	ClinGen gnomAD
CA367376581 rs1379604707	1147	T>I		No	ClinGen gnomAD
CA367376587 rs1268520363	1148	V>A		No	ClinGen TOPMed gnomAD
VAR_043122 rs13898 CA4238497	1148	V>I		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1299740500 CA367376589	1149	E>K		No	ClinGen gnomAD
rs1360967444 CA367376604	1150	T>I		No	ClinGen gnomAD
CA367376624 rs1331765934	1152	T>R		No	ClinGen gnomAD
TCGA novel	1153	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4238501 rs547683214	1154	N>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs113791881 CA367376677	1155	F>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4238502 rs746644365	1155	F>S		No	ClinGen ExAC gnomAD
rs1288534485 CA367376689	1156	G>E		No	ClinGen gnomAD
rs890728739 CA157884587	1156	G>R		No	ClinGen TOPMed

1 associated diseases with Q8IUX7

[MIM: 618000]: Ehlers-Danlos syndrome, classic-like, 2 (EDSCLL2)

A variant form of Ehlers-Danlos syndrome, a connective tissue disorder. EDSCLL2 patients show severe joint and skin laxity, osteoporosis affecting the hips and spine, osteoarthritis, soft redundant skin that can be acrogeria-like, delayed wound healing with abnormal atrophic scarring, and shoulder, hip, knee, and ankle dislocations. Additional variable features include gastrointestinal and genitourinary manifestations (bowel rupture, gut dysmotility, cryptorchidism, and hernias), vascular complications (mitral valve prolapse and aortic root dilation), and skeletal anomalies. EDSCLL2 inheritance is autosomal recessive. {ECO:0000269|PubMed:27023906, ECO:0000269|PubMed:29606302}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

A variant form of Ehlers-Danlos syndrome, a connective tissue disorder. EDSCLL2 patients show severe joint and skin laxity, osteoporosis affecting the hips and spine, osteoarthritis, soft redundant skin that can be acrogeria-like, delayed wound healing with abnormal atrophic scarring, and shoulder, hip, knee, and ankle dislocations. Additional variable features include gastrointestinal and genitourinary manifestations (bowel rupture, gut dysmotility, cryptorchidism, and hernias), vascular complications (mitral valve prolapse and aortic root dilation), and skeletal anomalies. EDSCLL2 inheritance is autosomal recessive. {ECO:0000269|PubMed:27023906, ECO:0000269|PubMed:29606302}. Note=The disease is caused by variants affecting the gene represented in this entry.

3 regional properties for Q8IUX7

Type	Name	Position	InterPro Accession
domain	RPN13, DEUBAD domain	268 - 381	IPR032368
domain	DEUBAD domain	277 - 391	IPR044867
domain	Rpn13/ADRM1, Pru domain	18 - 131	IPR044868

Functions

		Description
EC Number
Subcellular Localization	[Isoform 1]: Secreted ;
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

6 GO annotations of cellular component

Name	Definition
collagen-containing extracellular matrix	An extracellular matrix consisting mainly of proteins (especially collagen) and glycosaminoglycans (mostly as proteoglycans) that provides not only essential physical scaffolding for the cellular constituents but can also initiate crucial biochemical and biomechanical cues required for tissue morphogenesis, differentiation and homeostasis. The components are secreted by cells in the vicinity and form a sheet underlying or overlying cells such as endothelial and epithelial cells.
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
extracellular exosome	A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm.
extracellular region	The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite.
extracellular space	That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid.
nucleus	A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.

6 GO annotations of molecular function

Name	Definition
calmodulin binding	Binding to calmodulin, a calcium-binding protein with many roles, both in the calcium-bound and calcium-free states.
carboxypeptidase activity	Catalysis of the hydrolysis of a single C-terminal amino acid residue from a polypeptide chain.
collagen binding	Binding to collagen, 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%).
DNA-binding transcription repressor activity, RNA polymerase II-specific	A DNA-binding transcription factor activity that represses or decreases the transcription of specific gene sets transcribed by RNA polymerase II.
RNA polymerase II transcription regulatory region sequence-specific DNA binding	Binding to a specific sequence of DNA that is part of a regulatory region that controls the transcription of a gene or cistron by RNA polymerase II.
zinc ion binding	Binding to a zinc ion (Zn).

3 GO annotations of biological process

Name	Definition
negative regulation of transcription by RNA polymerase II	Any process that stops, prevents, or reduces the frequency, rate or extent of transcription mediated by RNA polymerase II.
proteolysis	The hydrolysis of proteins into smaller polypeptides and/or amino acids by cleavage of their peptide bonds.
regulation of collagen fibril organization	Any process that modulates the frequency, rate or extent of collagen fibril organization.

16 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P04836	CPE	Carboxypeptidase E	Bos taurus (Bovine)	PR
Q2KJ83	CPN1	Carboxypeptidase N catalytic chain	Bos taurus (Bovine)	PR
Q8QGP3	CPZ	Carboxypeptidase Z	Gallus gallus (Chicken)	PR
P14384	CPM	Carboxypeptidase M	Homo sapiens (Human)	PR
Q66K79	CPZ	Carboxypeptidase Z	Homo sapiens (Human)	PR
Q8N436	CPXM2	Inactive carboxypeptidase-like protein X2	Homo sapiens (Human)	PR
Q96SM3	CPXM1	Probable carboxypeptidase X1	Homo sapiens (Human)	PR
O75976	CPD	Carboxypeptidase D	Homo sapiens (Human)	PR
Q80V42	Cpm	Carboxypeptidase M	Mus musculus (Mouse)	PR
O89001	Cpd	Carboxypeptidase D	Mus musculus (Mouse)	PR
Q9JJN5	Cpn1	Carboxypeptidase N catalytic chain	Mus musculus (Mouse)	PR
Q9Z100	Cpxm1	Probable carboxypeptidase X1	Mus musculus (Mouse)	PR
Q9D2L5	Cpxm2	Inactive carboxypeptidase-like protein X2	Mus musculus (Mouse)	PR
Q640N1	Aebp1	Adipocyte enhancer-binding protein 1	Mus musculus (Mouse)	PR
Q9EQV8	Cpn1	Carboxypeptidase N catalytic chain	Rattus norvegicus (Rat)	PR
A2RUV9	Aebp1	Adipocyte enhancer-binding protein 1	Rattus norvegicus (Rat)	PR

10	20	30	40	50	60
MAAVRGAPLL	SCLLALLALC	PGGRPQTVLT	DDEIEEFLEG	FLSELEPEPR	EDDVEAPPPP
70	80	90	100	110	120
EPTPRVRKAQ	AGGKPGKRPG	TAAEVPPEKT	KDKGKKGKKD	KGPKVPKESL	EGSPRPPKKG
130	140	150	160	170	180
KEKPPKATKK	PKEKPPKATK	KPKEKPPKAT	KKPKEKPPKA	TKKPPSGKRP	PILAPSETLE
190	200	210	220	230	240
WPLPPPPSPG	PEELPQEGGA	PLSNNWQNPG	EETHVEAREH	QPEPEEETEQ	PTLDYNDQIE
250	260	270	280	290	300
REDYEDFEYI	RRQKQPRPPP	SRRRRPERVW	PEPPEEKAPA	PAPEERIEPP	VKPLLPPLPP
310	320	330	340	350	360
DYGDGYVIPN	YDDMDYYFGP	PPPQKPDAER	QTDEEKEELK	KPKKEDSSPK	EETDKWAVEK
370	380	390	400	410	420
GKDHKEPRKG	EELEEEWTPT	EKVKCPPIGM	ESHRIEDNQI	RASSMLRHGL	GAQRGRLNMQ
430	440	450	460	470	480
TGATEDDYYD	GAWCAEDDAR	TQWIEVDTRR	TTRFTGVITQ	GRDSSIHDDF	VTTFFVGFSN
490	500	510	520	530	540
DSQTWVMYTN	GYEEMTFHGN	VDKDTPVLSE	LPEPVVARFI	RIYPLTWNGS	LCMRLEVLGC
550	560	570	580	590	600
SVAPVYSYYA	QNEVVATDDL	DFRHHSYKDM	RQLMKVVNEE	CPTITRTYSL	GKSSRGLKIY
610	620	630	640	650	660
AMEISDNPGE	HELGEPEFRY	TAGIHGNEVL	GRELLLLLMQ	YLCREYRDGN	PRVRSLVQDT
670	680	690	700	710	720
RIHLVPSLNP	DGYEVAAQMG	SEFGNWALGL	WTEEGFDIFE	DFPDLNSVLW	GAEERKWVPY
730	740	750	760	770	780
RVPNNNLPIP	ERYLSPDATV	STEVRAIIAW	MEKNPFVLGA	NLNGGERLVS	YPYDMARTPT
790	800	810	820	830	840
QEQLLAAAMA	AARGEDEDEV	SEAQETPDHA	IFRWLAISFA	SAHLTLTEPY	RGGCQAQDYT
850	860	870	880	890	900
GGMGIVNGAK	WNPRTGTIND	FSYLHTNCLE	LSFYLGCDKF	PHESELPREW	ENNKEALLTF
910	920	930	940	950	960
MEQVHRGIKG	VVTDEQGIPI	ANATISVSGI	NHGVKTASGG	DYWRILNPGE	YRVTAHAEGY
970	980	990	1000	1010	1020
TPSAKTCNVD	YDIGATQCNF	ILARSNWKRI	REIMAMNGNR	PIPHIDPSRP	MTPQQRRLQQ
1030	1040	1050	1060	1070	1080
RRLQHRLRLR	AQMRLRRLNA	TTTLGPHTVP	PTLPPAPATT	LSTTIEPWGL	IPPTTAGWEE
1090	1100	1110	1120	1130	1140
SETETYTEVV	TEFGTEVEPE	FGTKVEPEFE	TQLEPEFETQ	LEPEFEEEEE	EEKEEEIATG
1150
QAFPFTTVET	YTVNFGDF