AiPD: Autoinhibited Protein Database

Q9Y6L7

Gene name	TLL2 (KIAA0932)
Protein name	Tolloid-like protein 2
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:7093
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-180 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-180 (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 Q9Y6L7

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q9Y6L7-F1	Predicted				AlphaFoldDB

962 variants for Q9Y6L7

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA377751648 rs1292893658 RCV000859977	38	E>Q	Spinal muscular atrophy [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
rs1589410819 RCV000859978 CA377736686	537	H>Y	Spinal muscular atrophy [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs779824777 CA5625518	2	P>L		No	ClinGen ExAC TOPMed gnomAD
CA377752249 rs1402793715	3	R>P		No	ClinGen gnomAD
rs1402793715 CA377752258	3	R>Q		No	ClinGen gnomAD
rs1381391376 CA377752236	4	A>V		No	ClinGen gnomAD
CA5625517 rs758175394	6	A>T		No	ClinGen ExAC gnomAD
CA5625516 rs750231753	7	L>P		No	ClinGen ExAC gnomAD
CA5625515 rs778640927	8	G>A		No	ClinGen ExAC gnomAD
rs778640927 CA377752163	8	G>E		No	ClinGen ExAC gnomAD
CA5625514 rs753668549	9	A>S		No	ClinGen ExAC TOPMed gnomAD
rs753668549 CA5625513	9	A>T		No	ClinGen ExAC TOPMed gnomAD
CA377752110 rs1190790687	10	L>V		No	ClinGen TOPMed gnomAD
rs557547022 CA212572756	11	V>M		No	ClinGen 1000Genomes TOPMed gnomAD
rs764122030 CA5625512	13	L>P		No	ClinGen ExAC gnomAD
rs760713023 CA5625511	14	L>P		No	ClinGen ExAC gnomAD
CA212572743 rs951310425	16	L>M		No	ClinGen Ensembl
rs767711021 CA377751975	17	L>P		No	ClinGen ExAC gnomAD
CA5625509 rs767711021	17	L>R		No	ClinGen ExAC gnomAD
CA377751941 rs1467013594	18	P>L		No	ClinGen TOPMed
TCGA novel	18	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	21	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA377751824 rs1401391557	23	A>S		No	ClinGen gnomAD
CA5625504 rs774633643	25	G>E		No	ClinGen ExAC TOPMed gnomAD
rs771138860 CA5625503	26	L>V		No	ClinGen ExAC gnomAD
rs773555915 CA377751733	28	E>*		No	ClinGen ExAC TOPMed gnomAD
rs770467300 CA5625500	28	E>G		No	ClinGen ExAC gnomAD
rs773555915 CA5625501	28	E>K		No	ClinGen ExAC TOPMed gnomAD
CA377751723 rs1427986533	29	R>G		No	ClinGen TOPMed gnomAD
rs201090456 CA5625497	30	P>L		No	ClinGen ExAC TOPMed gnomAD
CA5625498 rs560218238	30	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA377751713 rs560218238	30	P>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200174076 CA5625496	31	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5625495 rs778649697	32	A>T		No	ClinGen ExAC gnomAD
CA377751689 rs1351661778	33	T>S		No	ClinGen TOPMed
CA5625494 rs756962123	33	T>S		No	ClinGen ExAC gnomAD
rs1257675460 CA377751681	34	A>S		No	ClinGen gnomAD
rs753706117 CA5625493	35	D>N		No	ClinGen ExAC gnomAD
CA5625492 rs777548188	36	Y>H		No	ClinGen ExAC gnomAD
rs150827499 CA5625491	39	L>P		No	ClinGen ESP ExAC
rs1264250433 CA377751622	40	D>E		No	ClinGen TOPMed
CA377751617 rs1219910067	41	G>S		No	ClinGen gnomAD
CA377751602 rs1269935500	42	E>D		No	ClinGen TOPMed
rs141996541 CA377751591	43	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA377751595 rs1589441226	43	E>V		No	ClinGen Ensembl
CA377751585 rs963714309	44	G>D		No	ClinGen TOPMed gnomAD
rs963714309 CA212572704	44	G>V		No	ClinGen TOPMed gnomAD
CA5625489 rs574522103	45	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs556190192 CA5625487	48	Q>*		No	ClinGen 1000Genomes ExAC gnomAD
CA377751542 rs1371828636	48	Q>H		No	ClinGen gnomAD
rs766659374 CA5625486	51	H>R		No	ClinGen ExAC gnomAD
rs1478167473 CA377751508	52	Y>C		No	ClinGen gnomAD
TCGA novel	53	H>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs773677271 CA377751488	54	D>H		No	ClinGen ExAC gnomAD
rs773677271 CA377751490	54	D>N		No	ClinGen ExAC gnomAD
CA5625484 rs773677271	54	D>Y		No	ClinGen ExAC gnomAD
CA377751478 rs1402741763	55	P>A		No	ClinGen TOPMed
rs745414954	58	A>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA5625481 rs777283565	58	A>T		No	ClinGen ExAC gnomAD
CA5625480 rs771650809	58	A>V		No	ClinGen ExAC gnomAD
rs1311388005 CA377746649	59	A>G		No	ClinGen TOPMed
TCGA novel	62	W>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA377746621 rs1564915925	62	W>R		No	ClinGen Ensembl
rs765631600 CA5625465	63	G>E		No	ClinGen ExAC gnomAD
CA5625464 rs200668317	66	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA377746548 rs1370892169	69	E>*		No	ClinGen gnomAD
rs1333065453 CA377746547	69	E>A		No	ClinGen gnomAD
rs1465820013 CA377746525	70	D>E		No	ClinGen gnomAD
rs758945857 CA5625461	70	D>G		No	ClinGen ExAC TOPMed gnomAD
rs1407121765 CA377746520	71	D>Y		No	ClinGen gnomAD
CA377746496 rs1391760669	72	L>W		No	ClinGen gnomAD
rs1289177379 CA377746486	73	K>E		No	ClinGen TOPMed
TCGA novel	74	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1452802480 CA377746420	76	H>L		No	ClinGen gnomAD
rs770482849 CA5625459	77	I>T		No	ClinGen ExAC TOPMed gnomAD
CA5625460 rs773967394	77	I>V		No	ClinGen ExAC gnomAD
CA5625458 rs61740995	78	D>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs61738802 CA5625457	79	K>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	81	R>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5625455 rs747972273	81	R>G		No	ClinGen ExAC TOPMed gnomAD
rs781079927 CA5625454	83	W>*		No	ClinGen ExAC gnomAD
CA212559408 rs540438083	84	T>S		No	ClinGen Ensembl
CA377746252 rs1204117755	85	K>N		No	ClinGen gnomAD
rs754994522 CA377746226	87	T>I		No	ClinGen ExAC gnomAD
rs754994522 CA5625453	87	T>K		No	ClinGen ExAC gnomAD
CA377746211 rs1192317181	88	V>G		No	ClinGen gnomAD
rs149895584 CA5625452 COSM144680	88	V>M	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA377746135 rs1241297016	93	H>P		No	ClinGen gnomAD
CA5625451 rs138748320	94	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	94	S>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5625450 rs143171859	95	T>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA377746105 rs1438729166	95	T>P		No	ClinGen gnomAD
TCGA novel	101	Q>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	102	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs768475816 CA5625436	104	E>D		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	106	S>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs746900431 CA5625434	107	P>A		No	ClinGen ExAC gnomAD
CA377742657 rs1402797325	107	P>Q		No	ClinGen gnomAD
CA5625433 rs779870865	111	A>V		No	ClinGen ExAC gnomAD
CA5625432 rs772142949	112	M>R		No	ClinGen ExAC gnomAD
CA5625430 rs779253312	115	G>S		No	ClinGen ExAC gnomAD
CA5625429 rs757609233	115	G>V		No	ClinGen ExAC TOPMed gnomAD
rs745930019 CA5625411	123	G>V		No	ClinGen ExAC gnomAD
rs567442723 COSM1350119 CA5625409	124	R>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs149541065 CA5625410 COSM372621	124	R>W	lung [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA212561636 rs966079158	125	E>K		No	ClinGen gnomAD
rs1311361001 CA377742520	126	N>Y		No	ClinGen TOPMed gnomAD
rs1018013360 CA212561633	127	T>I		No	ClinGen Ensembl
CA377742494 rs1423605547	130	L>P		No	ClinGen TOPMed
rs777877609 CA5625407	131	H>P		No	ClinGen ExAC gnomAD
rs749460307 CA5625408	131	H>Y		No	ClinGen ExAC gnomAD
CA212561625 rs1007681952	132	S>G		No	ClinGen gnomAD
CA377742484 rs1174882684	132	S>N		No	ClinGen TOPMed
CA5625405 rs753039445	133	P>S		No	ClinGen ExAC gnomAD
CA377742470 rs1239288748	134	G>E		No	ClinGen gnomAD
rs887840119 CA212561601	136	L>W		No	ClinGen Ensembl
CA5625401 rs764664323	138	A>D	Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs753483261 CA5625399	139	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs374660807 CA212561580	139	A>V		No	ClinGen ESP TOPMed
rs1160031040 CA377742420	142	T>I		No	ClinGen TOPMed
rs199935164 CA5625398	143	F>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs760488537 CA5625397	144	S>C		No	ClinGen ExAC TOPMed gnomAD
rs760488537 CA377742409	144	S>F		No	ClinGen ExAC TOPMed gnomAD
rs1355813845 CA377742406	145	P>A		No	ClinGen gnomAD
rs751916642 CA212561573	145	P>L		No	ClinGen gnomAD
CA5625395 rs767556303	146	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA5625396 rs535050805	146	R>W		No	ClinGen ExAC TOPMed gnomAD
CA377742397 rs1174730860	147	V>D		No	ClinGen Ensembl
CA212561557 rs993340921	147	V>F		No	ClinGen Ensembl
CA5625394 rs759478862	148	R>*		No	ClinGen ExAC TOPMed gnomAD
CA377742394 rs759478862	148	R>G		No	ClinGen ExAC TOPMed gnomAD
CA5625393 rs774440560	148	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA212561554 rs897636563	149	R>T		No	ClinGen Ensembl
CA377742382 rs1414403922	150	A>D		No	ClinGen gnomAD
CA212561553 rs1032846316	152	T>A		No	ClinGen TOPMed
rs1045678069 CA212561552	154	R>K		No	ClinGen gnomAD
rs979038975 CA212561547	157	R>G		No	ClinGen TOPMed
CA377742318 rs1296780161	157	R>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1564906338 CA377742312	157	R>S		No	ClinGen Ensembl
rs749406912 CA5625390	158	I>T		No	ClinGen ExAC TOPMed gnomAD
rs771082883 CA5625391	158	I>V		No	ClinGen ExAC gnomAD
rs1256229099 CA377742289	159	W>*		No	ClinGen Ensembl
TCGA novel	159	W>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5625389 rs138224186	160	P>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5625388 rs769963012	162	G>R		No	ClinGen ExAC gnomAD
rs1238135430 CA377742254	162	G>V		No	ClinGen TOPMed
CA377742239 rs1438155688	164	I>L		No	ClinGen TOPMed
CA5625386 rs781478611	165	P>S		No	ClinGen ExAC gnomAD
CA377742226 rs781478611	165	P>T		No	ClinGen ExAC gnomAD
CA377742215 rs1404377191	166	Y>H		No	ClinGen TOPMed
rs150308860 COSM1971750 CA5625383	167	V>I	ovary [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs565450761 CA5625382	168	I>T		No	ClinGen 1000Genomes ExAC gnomAD
CA5625381 rs753329704	169	G>R		No	ClinGen ExAC gnomAD
rs763788678 CA377742145	171	N>K		No	ClinGen ExAC TOPMed gnomAD
CA377742134 rs1330539301	172	F>S		No	ClinGen TOPMed
rs1374590516 CA377742129	173	T>A		No	ClinGen TOPMed
rs755661390 CA377741766	174	G>A		No	ClinGen ExAC gnomAD
rs755661390 CA5625362	174	G>E		No	ClinGen ExAC gnomAD
rs755788634 CA377742120	174	G>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	174	G>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5625379 rs755788634	174	G>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	175	S>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5625361 rs752239989	175	S>R		No	ClinGen ExAC gnomAD
CA212559785 rs781020945	177	R>K		No	ClinGen ExAC TOPMed gnomAD
rs781020945 CA5625360	177	R>M		No	ClinGen ExAC TOPMed gnomAD
CA377741719 rs1186617185	178	A>T		No	ClinGen gnomAD
CA5625359 rs754784460	179	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1258200250 CA377741667	181	K>N		No	ClinGen gnomAD
rs751446278 CA5625358	182	Q>*		No	ClinGen ExAC TOPMed gnomAD
rs1457258216 CA377741657	182	Q>R		No	ClinGen gnomAD
TCGA novel	183	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs762870244 CA377741635	184	M>L		No	ClinGen ExAC TOPMed gnomAD
rs762870244 CA5625356	184	M>V		No	ClinGen ExAC TOPMed gnomAD
rs750448222 CA212559765 CA5625353	186	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs765175182 CA5625354	186	H>R		No	ClinGen ExAC gnomAD
CA5625355 rs750381507	186	H>Y		No	ClinGen ExAC gnomAD
rs868095223 CA212559761	188	E>K		No	ClinGen TOPMed gnomAD
rs1446775472 CA377741526	191	T>A		No	ClinGen gnomAD
rs540118460 CA5625352	191	T>N		No	ClinGen 1000Genomes ExAC gnomAD
rs768906042 CA5625351	192	C>R		No	ClinGen ExAC gnomAD
rs1564905454 CA377741517	192	C>Y		No	ClinGen Ensembl
CA5625350 rs761005486	194	T>S		No	ClinGen ExAC gnomAD
CA5625347 rs772489901	196	I>T		No	ClinGen ExAC TOPMed gnomAD
rs1370040050 CA377741483	197	E>G		No	ClinGen gnomAD
rs566307721 CA377741469	199	T>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs566307721 CA5625346	199	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs566307721 CA377741468	199	T>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1236250228 CA377741462	200	D>V		No	ClinGen gnomAD
CA5625344 rs368123754	201	E>K		No	ClinGen ExAC TOPMed gnomAD
CA5625343 rs747731981	203	S>T		No	ClinGen ExAC gnomAD
TCGA novel	206	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5625342 rs780965919	208	S>I		No	ClinGen ExAC gnomAD
rs1266457025 CA377741393	210	R>G		No	ClinGen gnomAD
rs754731403 CA5625341	211	T>I		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	213	G>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA377740850 rs1192400896	216	S>F		No	ClinGen gnomAD
rs757278581 CA5625318	217	Y>C		No	ClinGen ExAC gnomAD
rs1194316787 CA377740838	218	V>A		No	ClinGen gnomAD
rs1265867222 CA377740842	218	V>I		No	ClinGen gnomAD
rs1008035161 CA212557496	219	G>E		No	ClinGen Ensembl
CA5625317 rs368595189	220	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs375633602 CA5625316	220	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA212557492 COSM1675464 rs776387653	221	R>*	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs371145521 COSM1638711 CA5625315	221	R>Q	stomach [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs545429177 CA5625314	222	G>V		No	ClinGen 1000Genomes ExAC gnomAD
CA377740808 rs1342590405	224	G>V		No	ClinGen gnomAD
rs1279907413 CA377740802	225	P>L		No	ClinGen gnomAD
rs767816631 CA377740774	230	I>F		No	ClinGen ExAC TOPMed gnomAD
rs1210526392 CA377740771	230	I>T		No	ClinGen TOPMed
CA5625313 rs767816631	230	I>V		No	ClinGen ExAC TOPMed gnomAD
CA212557486 rs376112718	232	K>E		No	ClinGen ESP TOPMed
rs774834055 CA5625311	234	C>Y		No	ClinGen ExAC TOPMed gnomAD
rs766787938 CA5625310	237	F>S		No	ClinGen ExAC gnomAD
rs553324585 CA212557479	238	G>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs578045138 CA5625309	238	G>R		No	ClinGen 1000Genomes ExAC gnomAD
rs553324585 CA5625308	238	G>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs746552612 CA5625306	240	V>M		No	ClinGen ExAC gnomAD
CA5625305 rs147806147	242	H>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA377740694 rs1434033473	242	H>Y		No	ClinGen TOPMed
CA377740687 rs1190138854	243	E>G		No	ClinGen gnomAD
CA5625302 rs201081776	243	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5625303 rs201081776	243	E>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs757056626 CA5625301	244	L>P		No	ClinGen ExAC TOPMed gnomAD
rs777719377 CA5625299	247	V>M		No	ClinGen ExAC gnomAD
TCGA novel	248	V>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA377740660 rs1320315663	248	V>I		No	ClinGen gnomAD
CA377740647 rs1589418813	250	F>V		No	ClinGen Ensembl
rs752819495 CA5625297	254	H>Y		No	ClinGen ExAC gnomAD
CA5625296 rs200756241 COSM199108	256	R>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA212557447 rs948769671	256	R>W		No	ClinGen TOPMed
CA212557439 rs1003743673	257	P>T		No	ClinGen TOPMed
CA5625295 rs755290993	258	D>A		No	ClinGen ExAC gnomAD
CA377740582 rs1350463013	259	R>S		No	ClinGen TOPMed
rs1443886749 CA377740570	261	Q>*		No	ClinGen TOPMed gnomAD
rs1589418798 CA377740559	262	H>Y		No	ClinGen Ensembl
CA5625291 rs763438426	264	T>A		No	ClinGen ExAC gnomAD
CA212557426 rs556987938	265	I>T		No	ClinGen Ensembl
CA377740425 rs1165347822	271	Q>H		No	ClinGen TOPMed gnomAD
CA377740280 rs1589418362	274	Q>H		No	ClinGen Ensembl
CA377740291 rs1224472257	274	Q>K		No	ClinGen gnomAD
CA5625267 rs767002859	274	Q>R		No	ClinGen ExAC gnomAD
rs758997182 CA5625266	277	N>S		No	ClinGen ExAC gnomAD
rs987028272 CA212556692	281	M>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
TCGA novel	282	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs774023542 CA5625265	282	E>K		No	ClinGen ExAC gnomAD
CA5625264 rs142507054	285	E>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1218091057 CA377740132	285	E>K		No	ClinGen gnomAD
CA377740117 rs1284746653	286	V>M		No	ClinGen TOPMed gnomAD
CA5625263 rs762719710	287	S>N		No	ClinGen ExAC gnomAD
rs773055615 CA5625262	288	S>C		No	ClinGen ExAC TOPMed gnomAD
CA377740084 rs773055615 COSM921910	288	S>F	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA5625261 rs376213494	290	G>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA5625260 rs748063696	291	E>Q		No	ClinGen ExAC gnomAD
CA5625259 rs373823527	292	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA5625256 rs187430873	293	Y>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs768745093 CA5625258	293	Y>H		No	ClinGen ExAC gnomAD
rs1477613750 CA377740010	294	D>E		No	ClinGen gnomAD
CA5625255 rs151093714	294	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs750814467 CA5625254	297	S>R		No	ClinGen ExAC gnomAD
TCGA novel	298	I>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	298	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs779355243 CA5625253	299	M>R		No	ClinGen ExAC gnomAD
CA5625252 rs535442493	300	H>P		No	ClinGen 1000Genomes ExAC gnomAD
rs1402810225 CA377739896	302	A>P		No	ClinGen TOPMed gnomAD
CA377739898 rs1402810225	302	A>T		No	ClinGen TOPMed gnomAD
CA5625248 rs535012851 COSM199106	303	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA5625249 rs142066134	303	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1564903758 CA377739872	304	N>S		No	ClinGen Ensembl
CA5625246 rs776641334	305	T>I		No	ClinGen ExAC TOPMed gnomAD
CA212556632 rs776641334	305	T>S		No	ClinGen ExAC TOPMed gnomAD
rs1371377892 CA377739826	307	S>L		No	ClinGen TOPMed gnomAD
rs1243028588 CA377739361	309	G>A		No	ClinGen gnomAD
CA212549200 rs903155132	309	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs764090013 CA5625219	310	V>D		No	ClinGen ExAC TOPMed gnomAD
CA377739350 rs1316278096	311	F>S		No	ClinGen gnomAD
CA5625218 rs760464995	312	L>I		No	ClinGen ExAC gnomAD
rs760464995 CA377739346	312	L>V		No	ClinGen ExAC gnomAD
CA212549188 rs918632509	314	T>I		No	ClinGen Ensembl
CA5625216 rs772237342	315	I>T		No	ClinGen ExAC gnomAD
CA5625217 rs376913935	315	I>V		No	ClinGen ESP ExAC gnomAD
rs1392236330 CA377739320	316	L>F		No	ClinGen TOPMed gnomAD
CA5625215 rs548020737	317	P>R		No	ClinGen 1000Genomes ExAC gnomAD
rs774691905 CA5625214	318	R>C		No	ClinGen ExAC gnomAD
rs148586913 CA5625213	318	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA377739294 rs1589416241	320	D>V		No	ClinGen Ensembl
CA5625211 rs777929262	322	N>D		No	ClinGen ExAC gnomAD
rs1361620935 CA377739280	322	N>S		No	ClinGen gnomAD
rs756512393 CA377739272	323	G>D		No	ClinGen ExAC gnomAD
rs756512393 CA5625210	323	G>V		No	ClinGen ExAC gnomAD
COSM1727970 rs61743696 CA5625208	324	V>I	Variant assessed as Somatic; 0.0 impact. liver central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs970964625 CA212549148	325	R>G		No	ClinGen Ensembl
CA5625207 rs757876320	325	R>S		No	ClinGen ExAC TOPMed gnomAD
CA5625206 rs764933841	327	T>I		No	ClinGen ExAC gnomAD
CA5625205 rs764933841	327	T>N		No	ClinGen ExAC gnomAD
CA212549137 rs1024916154	330	Q>*		No	ClinGen TOPMed gnomAD
rs143633465 CA5625203	331	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA5625202 rs367593486	331	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA377739230 rs367593486	331	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs143633465 CA5625204	331	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs140071170 CA5625199 CA377739228	332	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs140071170 COSM1350115 CA5625200	332	V>M	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA5625196 rs41291632	333	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs774638884 CA5625197 COSM199103	333	R>W	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA212549113 rs1000496360	334	L>F		No	ClinGen Ensembl
rs550602947 CA5625194	335	S>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs770016370 CA5625193	336	Q>*		No	ClinGen ExAC gnomAD
rs748554924 CA5625192	336	Q>R		No	ClinGen ExAC gnomAD
rs868816880 CA212549101	337	G>E		No	ClinGen Ensembl
CA5625191 rs781651278	339	I>V		No	ClinGen ExAC gnomAD
CA212549099 rs1042524459	340	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs1010426233 CA212549093	341	Q>H		No	ClinGen Ensembl
CA212549097 rs941013407	341	Q>P		No	ClinGen TOPMed
rs779876581 CA5625190	342	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1406175192 CA377739171	342	A>V		No	ClinGen TOPMed
rs199660053 CA5625189	343	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs982440987 CA212549092	343	R>W		No	ClinGen TOPMed
rs1394450191 CA377739161	344	K>R		No	ClinGen TOPMed gnomAD
rs778220022 CA5625188	346	Y>F		No	ClinGen ExAC gnomAD
rs199704612	350	A>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA377739094 rs563536531	350	A>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs563536531 CA5625138	350	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	351	C>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs754020603 CA5625135	352	G>R		No	ClinGen ExAC gnomAD
CA212548063 rs746941596	354	T>I		No	ClinGen Ensembl
TCGA novel	355	L>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs374275574 CA5625133	356	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA5625134 rs142878687	356	Q>R		No	ClinGen ESP ExAC gnomAD
rs966708323 CA212548051	358	T>I		No	ClinGen TOPMed
rs1404724087 CA377739041	359	T>A		No	ClinGen gnomAD
COSM921909 rs201561475 CA5625131	359	T>M	endometrium [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs753509952	360	G>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA5625127 rs775020792	363	S>F		No	ClinGen ExAC
CA377738995 rs1460826972	366	G>A		No	ClinGen TOPMed
rs61741051 RCV000970864 CA5625126	366	G>R		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1408994269 CA377738980	368	P>L		No	ClinGen gnomAD
CA377738982 rs1408994269	368	P>Q		No	ClinGen gnomAD
CA5625125 rs747698987	370	G>E		No	ClinGen ExAC gnomAD
CA5625123 rs201334249	371	Y>S		No	ClinGen ExAC TOPMed gnomAD
rs1490501325 CA377738956	372	P>Q		No	ClinGen gnomAD
rs1354922812 CA377738948	373	S>F		No	ClinGen gnomAD
rs1384824453 CA377738934	375	S>F		No	ClinGen TOPMed
TCGA novel	375	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs758145340 CA5625120	376	H>L		No	ClinGen ExAC TOPMed gnomAD
rs1291450941 CA377738926	377	C>S		No	ClinGen TOPMed gnomAD
CA5625117 rs374588772	378	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA5625118 rs374588772	378	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA212547974 rs753974802	380	R>G		No	ClinGen ExAC gnomAD
rs777965120 CA5625115	381	I>V		No	ClinGen ExAC gnomAD
rs752871708 COSM1702852 CA5625113	382	S>L	skin [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1241382962 CA377738884	383	V>A		No	ClinGen TOPMed
rs1463015548 CA377738871	385	P>L		No	ClinGen TOPMed
CA377738867 rs1564901341	386	G>E		No	ClinGen Ensembl
rs1184721182 CA377738860	387	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1419483598 CA377738849	388	K>N		No	ClinGen TOPMed
rs750980999	389	I>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs763487933 CA5625090	389	I>S		No	ClinGen ExAC TOPMed gnomAD
CA377738635 rs1182460141	390	V>A		No	ClinGen gnomAD
CA5625088 rs146926136	390	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs771674271 CA5625085	394	T>A		No	ClinGen ExAC gnomAD
rs550779151 CA5625083	397	D>G		No	ClinGen 1000Genomes ExAC gnomAD
CA377738576 rs1415042937	399	F>L		No	ClinGen gnomAD
rs770723273 CA5625082	401	S>I		No	ClinGen ExAC gnomAD
CA5625081 rs749171000	402	R>*		No	ClinGen ExAC TOPMed gnomAD
rs1314891427 CA377738553	402	R>Q		No	ClinGen gnomAD
rs777601752 CA5625080	403	L>P		No	ClinGen ExAC gnomAD
rs377766369 CA212545152	404	C>Y		No	ClinGen ESP TOPMed gnomAD
CA377738534 rs1391080574	405	W>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA5625079 rs769884629	406	Y>C		No	ClinGen ExAC gnomAD
rs748224081 CA5625078	407	D>A		No	ClinGen ExAC gnomAD
CA377738507 rs753376490	409	V>L		No	ClinGen ExAC TOPMed gnomAD
CA5625076 rs753376490	409	V>M		No	ClinGen ExAC TOPMed gnomAD
CA212545103 rs554679324	411	V>I		No	ClinGen Ensembl
CA5625072 rs750924738 COSM428219	412	R>Q	breast [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs758857327 CA5625073	412	R>W		No	ClinGen ExAC gnomAD
CA5625070 rs755630754	414	G>A		No	ClinGen ExAC TOPMed gnomAD
CA377738477 rs1409588987	414	G>C		No	ClinGen TOPMed
CA5625071 rs755630754	414	G>V		No	ClinGen ExAC TOPMed gnomAD
CA377738468 rs1247916726	415	Y>*		No	ClinGen gnomAD
rs1179329824 CA377738467	416	W>R		No	ClinGen gnomAD
rs1220976969 CA377738440	419	A>D		No	ClinGen gnomAD
CA212545073 rs976663824	420	P>L		No	ClinGen TOPMed
rs1292631717 CA377738435	420	P>S		No	ClinGen gnomAD
rs1292631717 CA377738436	420	P>T		No	ClinGen gnomAD
rs766117944 CA212545063	421	L>F		No	ClinGen ExAC gnomAD
rs766117944 CA377738432	421	L>I		No	ClinGen ExAC gnomAD
rs766117944 CA5625064	421	L>V		No	ClinGen ExAC gnomAD
rs762776854 CA5625062	423	G>S		No	ClinGen ExAC gnomAD
rs771345921 CA5625033	424	R>G		No	ClinGen ExAC gnomAD
TCGA novel	424	R>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs749715191 CA377737609	426	C>S		No	ClinGen ExAC TOPMed gnomAD
rs749715191 CA5625032	426	C>Y		No	ClinGen ExAC TOPMed gnomAD
rs1564898415 CA377737588	428	D>G		No	ClinGen Ensembl
rs769905843 CA5625030	428	D>N		No	ClinGen ExAC TOPMed gnomAD
rs769905843 CA377737590	428	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA377737571 rs1589411575	430	I>T		No	ClinGen Ensembl
CA5625029 rs142713663	431	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs887799408 CA212540650	433	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs779675054 CA5625028	434	L>V		No	ClinGen ExAC gnomAD
CA377737546 rs1324584580	435	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs372266220 CA212540631	436	S>A		No	ClinGen ESP
rs113406248 CA377737530	437	T>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs113406248 CA5625026	437	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA377737512 rs755902799	440	R>G		No	ClinGen ExAC TOPMed gnomAD
rs764180616 CA5625022	440	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs755902799 COSM3397333 CA5625023	440	R>W	Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA5625021 rs138680811	441	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs138680811 CA377737509	441	L>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs772288729 CA5625020	442	W>*		No	ClinGen ExAC TOPMed gnomAD
rs772288729 CA5625019	442	W>L		No	ClinGen ExAC TOPMed gnomAD
rs759626862 CA5625018	444	E>A		No	ClinGen ExAC gnomAD
rs1050382080 CA212540586	446	R>C		No	ClinGen TOPMed gnomAD
RCV000953304 CA5625017 rs116160476	446	R>H		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs771165492 CA5625016	447	S>N		No	ClinGen ExAC TOPMed gnomAD
rs1444011763 CA377737454	449	S>I		No	ClinGen gnomAD
CA5625015 rs749709825	449	S>R		No	ClinGen ExAC gnomAD
rs1205876498 COSM540354 CA377737446	450	N>S	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA5625013 rs778239724	452	L>S		No	ClinGen ExAC TOPMed gnomAD
CA5625012 rs770351254	454	K>E		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	454	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA377737419 rs1337383331	454	K>T		No	ClinGen TOPMed gnomAD
TCGA novel	455	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs748657072 CA5625010	455	G>S		No	ClinGen ExAC gnomAD
CA377737412 rs1474677697	455	G>V		No	ClinGen gnomAD
CA377737410 rs1391459834	456	F>L		No	ClinGen TOPMed
rs201650404 CA377737386	459	A>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs201650404 CA5625009	459	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs778668139 CA5625006	460	Y>C		No	ClinGen ExAC gnomAD
CA5625004 rs200342827	461	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA212540535 rs756982173	462	A>S		No	ClinGen gnomAD
CA377737370 rs756982173 COSM139852	462	A>T	skin [Cosmic]	No	ClinGen cosmic curated gnomAD
CA5624978 rs181743351	463	T>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1020388483 CA377737343	464	C>*		No	ClinGen TOPMed gnomAD
rs763102758 CA5624975	465	G>A		No	ClinGen ExAC TOPMed gnomAD
rs763102758 CA377737340	465	G>E		No	ClinGen ExAC TOPMed gnomAD
rs372472391 CA5624976 CA5624977 COSM466141	465	G>R	kidney [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs1261395235	466	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA377737330 rs1221760958	467	D>Y		No	ClinGen gnomAD
rs757077777 CA5624974	468	M>L		No	ClinGen ExAC TOPMed gnomAD
rs1289405085 CA377737322	468	M>R		No	ClinGen gnomAD
TCGA novel	469	N>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1344178086 CA377737311	469	N>K		No	ClinGen gnomAD
rs142073814 CA5624973	469	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs575638618 CA5624972	470	K>T		No	ClinGen 1000Genomes ExAC gnomAD
CA377737298 rs1437792323	471	D>G		No	ClinGen gnomAD
CA377737294 rs1344737567	472	A>T		No	ClinGen gnomAD
rs904029226 CA212539491	472	A>V		No	ClinGen TOPMed gnomAD
CA377737289 rs200022958	473	G>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1042524540 CA212539482	473	G>D		No	ClinGen TOPMed gnomAD
CA5624970 rs200022958	473	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5624968 rs555568436	475	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5624967 rs542374653	477	S>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA377737246 rs1427934323	479	N>K		No	ClinGen gnomAD
rs918137719 CA212539477	479	N>S		No	ClinGen TOPMed
CA377737239 rs1386439577	480	Y>*		No	ClinGen TOPMed
CA5624966 rs748907132	480	Y>N		No	ClinGen ExAC TOPMed gnomAD
rs573450462 CA5624965	481	P>L		No	ClinGen 1000Genomes ExAC gnomAD
CA5624964 rs573450462	481	P>R		No	ClinGen 1000Genomes ExAC gnomAD
CA377737212 rs1289274085	484	Y>F		No	ClinGen TOPMed
CA5624962 rs780986878	485	R>T		No	ClinGen ExAC gnomAD
CA377737203 rs1362895192	486	P>T		No	ClinGen TOPMed
CA5624961 rs754878651	490	C>Y		No	ClinGen ExAC gnomAD
CA5624960 rs751462574	491	V>I		No	ClinGen ExAC gnomAD
TCGA novel	492	W>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1321928482 CA377737150	493	R>M		No	ClinGen gnomAD
CA5624959 rs766432477	495	T>A		No	ClinGen ExAC gnomAD
CA5624958 rs41291628	495	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5624955 rs762152581	496	V>F		No	ClinGen ExAC gnomAD
rs777124642 CA5624954	497	S>L		No	ClinGen ExAC gnomAD
CA5624953 rs764375672	498	E>K		No	ClinGen ExAC gnomAD
CA5624952 rs761189673	499	G>V		No	ClinGen ExAC gnomAD
rs368837755 COSM3397332 CA5624949	502	V>M	Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs762596599 CA377737089	503	G>E		No	ClinGen ExAC TOPMed gnomAD
rs762596599 CA5624948	503	G>V		No	ClinGen ExAC TOPMed gnomAD
rs772982481 CA5624947	504	L>F		No	ClinGen ExAC gnomAD
rs896785389 CA212539372	505	T>P		No	ClinGen Ensembl
CA377737068 rs1248092706	507	Q>*		No	ClinGen gnomAD
rs1182651877 CA377737059	508	A>D		No	ClinGen gnomAD
CA377737055 rs1459676920	509	F>L		No	ClinGen gnomAD
CA377737042 rs1193031560	510	E>D		No	ClinGen Ensembl
rs200405308 CA5624932	511	I>T		No	ClinGen 1000Genomes ExAC
rs768194424 CA5624931	514	H>R		No	ClinGen ExAC TOPMed gnomAD
CA377736942 rs1589410875	514	H>Y		No	ClinGen Ensembl
CA5624929 rs542313339	515	D>H		No	ClinGen 1000Genomes ExAC gnomAD
CA5624928 rs542313339	515	D>N		No	ClinGen 1000Genomes ExAC gnomAD
CA212538988 rs983254557	519	Y>H		No	ClinGen TOPMed
CA5624926 rs776177959	520	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs768467039 CA377736865	521	Y>*		No	ClinGen ExAC gnomAD
CA377736860 rs746828315	522	L>V		No	ClinGen ExAC TOPMed gnomAD
CA377736837 rs1343013652	524	V>I		No	ClinGen TOPMed
rs779955250 CA377736829	525	R>G		No	ClinGen ExAC gnomAD
CA377736826 rs772066119	525	R>P		No	ClinGen ExAC TOPMed gnomAD
COSM273351 rs772066119 CA5624922	525	R>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs779955250 CA5624923	525	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA377736815 rs1263678733	526	D>G		No	ClinGen TOPMed
rs1313627278 CA377736784	528	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs372077123 CA5624919	529	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA377736774 rs372077123	529	T>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1268463478 CA377736765	530	E>A		No	ClinGen TOPMed
rs756485850 CA5624915	533	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA377736714 rs1479490510	534	L>M		No	ClinGen TOPMed
CA5624914 rs753067722	535	I>F		No	ClinGen ExAC gnomAD
rs369236340 CA5624913	535	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs764799868 CA5624910	536	G>R		No	ClinGen ExAC gnomAD
rs764799868 CA5624911	536	G>S		No	ClinGen ExAC gnomAD
rs374653766 CA5624909	536	G>V		No	ClinGen ESP ExAC
CA377736636 rs1470115517	539	C>*		No	ClinGen TOPMed
CA377736642 rs1430570644	539	C>Y		No	ClinGen TOPMed
rs776324736 CA5624908	540	G>D		No	ClinGen ExAC gnomAD
rs143567200 CA5624907	541	Y>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5624906 rs143567200	541	Y>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	542	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA377736599 rs1410271263	543	K>R		No	ClinGen gnomAD
CA5624904 rs140011074	544	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1220358104 CA377736581	546	D>N		No	ClinGen gnomAD
CA5624903 rs745761081	547	V>A		No	ClinGen ExAC gnomAD
rs771016974 CA5624901	549	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA5624898 rs756220771	551	S>T		No	ClinGen ExAC gnomAD
CA212538785 rs546079212	554	L>P		No	ClinGen 1000Genomes ExAC gnomAD
CA5624897 rs546079212	554	L>Q		No	ClinGen 1000Genomes ExAC gnomAD
rs781647141 CA5624896	556	M>I		No	ClinGen ExAC gnomAD
CA377736453 rs1293576843	559	V>L		No	ClinGen gnomAD
rs577410035 CA5624893	561	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs577410035 CA5624894	561	D>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA377736410 rs1161845299	562	G>D		No	ClinGen gnomAD
CA377736386 rs557356354	564	I>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs557356354 CA5624891	564	I>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5624892 rs756779166	564	I>V		No	ClinGen ExAC gnomAD
rs763666106 CA5624890	566	K>N		No	ClinGen ExAC gnomAD
rs1281219435 CA377736359	566	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs760191094 CA377736346	567	A>E		No	ClinGen ExAC TOPMed gnomAD
rs760191094 CA5624889	567	A>V		No	ClinGen ExAC TOPMed gnomAD
CA377736309 rs1291311902	570	A>T		No	ClinGen TOPMed
CA5624887 rs144251888	571	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA5624886 rs148545758	572	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1224786994 CA377736283	572	N>Y		No	ClinGen TOPMed
rs1437345755 CA377736239	575	K>E		No	ClinGen TOPMed
rs1329674277 CA377736225	576	E>K		No	ClinGen gnomAD
rs751098786 CA212532963	577	V>L		No	ClinGen TOPMed gnomAD
rs751098786 CA212532969	577	V>M		No	ClinGen TOPMed gnomAD
CA377734806 rs1386192157	578	D>G		No	ClinGen TOPMed
CA377734771 rs1316093724	579	E>D		No	ClinGen TOPMed gnomAD
CA5624864 rs766207609	579	E>K		No	ClinGen ExAC gnomAD
rs1347243076 CA377734766	580	C>S		No	ClinGen TOPMed
CA377734694 rs1392152295	583	P>L		No	ClinGen gnomAD
rs773230911 CA5624862	586	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA5624859 rs776981096	587	G>E		No	ClinGen ExAC TOPMed gnomAD
COSM1666741 CA5624860 rs200588066	587	G>R	eye Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs769066896 CA5624858	588	C>G		No	ClinGen ExAC gnomAD
rs780226663 CA5624856	589	E>D		No	ClinGen ExAC
CA5624857 rs747241416	589	E>K		No	ClinGen ExAC gnomAD
CA5624855 rs772512404	591	R>C		No	ClinGen ExAC TOPMed gnomAD
rs746323294 CA5624854	591	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA5624853 rs144302824	595	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs752267693 CA5624851	596	L>Q		No	ClinGen ExAC gnomAD
CA212532865 rs941397210	597	G>D		No	ClinGen Ensembl
CA212532857 rs909853045	598	S>C		No	ClinGen Ensembl
CA5624849 rs754564529	598	S>N		No	ClinGen ExAC TOPMed gnomAD
rs1408574609 CA377734396	599	Y>C		No	ClinGen gnomAD
rs751245198 CA5624848	602	A>D		No	ClinGen ExAC gnomAD
rs1454680030 CA377734338	602	A>T		No	ClinGen gnomAD
rs377749295 CA5624847	603	C>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA377734296 rs1363528179	604	D>A		No	ClinGen Ensembl
rs1183329556 CA377734274	605	P>S		No	ClinGen TOPMed
rs750304509 CA5624845	606	G>D		No	ClinGen ExAC TOPMed gnomAD
CA5624843 COSM144466 rs761979856	608	E>K	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA5624841 rs61743685	610	A>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5624842 rs776786669	610	A>S		No	ClinGen ExAC gnomAD
CA5624839 rs142908871	611	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs749806198 CA5624834	612	D>E		No	ClinGen ExAC TOPMed gnomAD
CA5624836 rs779279277	612	D>G		No	ClinGen ExAC gnomAD
CA5624837 rs543672648	612	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs754512544 CA5624832	613	K>M		No	ClinGen ExAC gnomAD
rs780630007 CA5624833	613	K>Q		No	ClinGen ExAC gnomAD
rs751139422 CA5624831	615	M>T		No	ClinGen ExAC
rs1429231557 CA377734076	616	C>S		No	ClinGen Ensembl
CA212532688 rs1041693249	617	E>D		No	ClinGen TOPMed
CA5624829 rs779804858	617	E>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA212532068 rs138610477	618	V>E		No	ClinGen ESP gnomAD
CA377733844 rs1589408179	621	G>S		No	ClinGen Ensembl
CA5624804 rs756139034	622	G>D		No	ClinGen ExAC TOPMed gnomAD
CA5624806 rs147141398	622	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA5624805 rs147141398	622	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs759752620 CA5624801	627	L>M		No	ClinGen ExAC gnomAD
rs1186337088 CA377733703	628	N>S		No	ClinGen gnomAD
rs61738801 CA5624800	629	G>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5624799 rs766697097	630	T>A		No	ClinGen ExAC gnomAD
CA5624798 rs202007035	630	T>I		No	ClinGen 1000Genomes ExAC gnomAD
CA377733644 rs1310960676	632	T>A		No	ClinGen gnomAD
CA377733599 rs1220302762	634	P>R		No	ClinGen gnomAD
rs773694115 CA5624797	635	G>W		No	ClinGen ExAC gnomAD
rs770351661 CA5624796	636	W>*		No	ClinGen ExAC gnomAD
TCGA novel	636	W>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1295454245 CA377733580	636	W>R		No	ClinGen gnomAD
rs1366137116 CA377733547	637	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1366137116 CA377733552	637	P>Q		No	ClinGen TOPMed gnomAD
rs1459977414 CA377733512	639	E>*		No	ClinGen TOPMed gnomAD
rs775007644 CA5624794	641	P>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	647	V>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA377733371 rs1262578392	647	V>I		No	ClinGen TOPMed
TCGA novel	649	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5624792 CA212531951 rs148018590	649	Q>H		No	ClinGen ESP ExAC gnomAD
rs1589408132 CA377733305	650	V>G		No	ClinGen Ensembl
CA377733301 rs1257434899	651	V>M		No	ClinGen TOPMed
rs745494589 CA5624791	652	A>G		No	ClinGen ExAC gnomAD
TCGA novel	653	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM1179412 CA5624788 rs141062888	654	A>T	prostate [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA212531924 rs1046689831	655	Q>*		No	ClinGen TOPMed
rs1198311380 CA377733214	655	Q>H		No	ClinGen TOPMed
rs374900761 CA5624786	657	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs374900761 CA5624785	657	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs143755578 CA5624787	657	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5624784 rs148989097	658	I>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA377733090 rs1398925557	662	F>L		No	ClinGen TOPMed
TCGA novel	662	F>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1015981986 CA212531870	663	E>A		No	ClinGen TOPMed gnomAD
CA5624781 rs766644367	666	E>Q		No	ClinGen ExAC gnomAD
rs1282814777 CA377732942	669	G>D		No	ClinGen TOPMed
TCGA novel	669	G>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA212531817 rs868706990	671	D>N		No	ClinGen Ensembl
TCGA novel	672	V>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA377732257 rs1286440939	676	D>E		No	ClinGen TOPMed gnomAD
rs781038211 CA5624765	676	D>N		No	ClinGen ExAC
CA5624762 rs372280169	678	V>I		No	ClinGen ESP ExAC gnomAD
rs1456082148 CA377732237	679	E>D		No	ClinGen gnomAD
CA377732227 COSM1267908 rs1209887859	681	R>C	oesophagus [Cosmic]	No	ClinGen cosmic curated TOPMed
CA5624760 rs750667574	681	R>H		No	ClinGen ExAC TOPMed gnomAD
rs750667574 CA5624759	681	R>L		No	ClinGen ExAC TOPMed gnomAD
COSM270347 rs765598534 CA5624758	682	S>I	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs765598534 CA377732222	682	S>N		No	ClinGen ExAC TOPMed gnomAD
CA377732217 rs61746114	683	G>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA377732214 rs1185041616	683	G>D		No	ClinGen gnomAD
CA5624756 RCV000965813 rs61746114	683	G>S		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA5624755 rs759116246	685	S>F		No	ClinGen ExAC TOPMed gnomAD
rs759116246 CA5624754	685	S>Y		No	ClinGen ExAC TOPMed gnomAD
CA5624750 rs141438733	687	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed
CA5624748 rs769607312	688	A>S		No	ClinGen ExAC gnomAD
CA377732190 rs769607312	688	A>T		No	ClinGen ExAC gnomAD
CA377732181 rs1589407706	689	K>T		No	ClinGen Ensembl
CA377732177 rs1398743366	690	L>V		No	ClinGen gnomAD
rs146545391 CA5624746	691	H>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA5624743 rs780061230	692	G>D		No	ClinGen ExAC TOPMed gnomAD
rs777268778 CA5624744	692	G>R		No	ClinGen ExAC gnomAD
rs777268778 CA5624745	692	G>S		No	ClinGen ExAC gnomAD
CA5624742 rs780061230	692	G>V		No	ClinGen ExAC TOPMed gnomAD
rs758506307 CA5624741	693	R>S		No	ClinGen ExAC TOPMed gnomAD
rs746060649 CA5624740	696	G>C		No	ClinGen ExAC TOPMed gnomAD
CA212530596 rs746060649	696	G>R		No	ClinGen ExAC TOPMed gnomAD
rs746060649 CA377732142	696	G>S		No	ClinGen ExAC TOPMed gnomAD
CA5624738 rs757630744	699	T>M		No	ClinGen ExAC gnomAD
CA212530576 rs938150788	700	P>L		No	ClinGen TOPMed gnomAD
rs1386963175 CA377732117	700	P>S		No	ClinGen gnomAD
CA377732113 rs1377505376	701	E>Q		No	ClinGen gnomAD
CA377732102 rs1589407673	702	V>G		No	ClinGen Ensembl
CA5624735 rs756738806	702	V>L		No	ClinGen ExAC gnomAD
CA5624734 rs753228735	703	I>S		No	ClinGen ExAC TOPMed gnomAD
rs1188211548 CA377732084	705	S>L		No	ClinGen gnomAD
rs1245982898 CA377732081	706	Q>*		No	ClinGen gnomAD
rs1210296431 CA377732072	707	S>N		No	ClinGen TOPMed gnomAD
rs950181083 CA212530548	708	N>K		No	ClinGen TOPMed
rs144227913 CA5624731	710	M>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1230962115 CA377732042	711	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA5624730 rs761523021	711	R>H		No	ClinGen ExAC TOPMed gnomAD
rs761523021 CA5624729	711	R>L		No	ClinGen ExAC TOPMed gnomAD
rs761523021 CA377732041	711	R>P		No	ClinGen ExAC TOPMed gnomAD
CA5624728 rs746988385 CA5624726	712	V>L		No	ClinGen ExAC TOPMed gnomAD
rs746988385 CA5624727	712	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	712	V>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA377732034 rs1589407636	713	E>G		No	ClinGen Ensembl
CA5624725 rs369277431	713	E>K		No	ClinGen ESP ExAC gnomAD
CA377732025 rs1322985012	714	F>C		No	ClinGen TOPMed gnomAD
CA377732021 rs1383064608	715	K>E		No	ClinGen gnomAD
CA5624724 rs772160239	716	S>F		No	ClinGen ExAC gnomAD
CA377731997 rs1395802251	718	N>S		No	ClinGen TOPMed gnomAD
CA377731989 rs1447896880	719	T>S		No	ClinGen gnomAD
rs1194159154 CA377731987	720	V>I		No	ClinGen gnomAD
CA377731979 rs1564895393	721	S>A		No	ClinGen Ensembl
CA212530510 rs376232644	722	K>N		No	ClinGen ESP
CA377731971 rs1447426027	722	K>R		No	ClinGen gnomAD
rs372575861 CA5624720	723	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA5624717 rs142361931	724	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA5624718 rs142361931	724	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1280449306 CA377731960	724	G>V		No	ClinGen gnomAD
rs1226953919 CA377731942	727	A>T		No	ClinGen gnomAD
CA5624715 rs757989117	728	H>R		No	ClinGen ExAC TOPMed gnomAD
CA5624716 rs768082023	728	H>Y		No	ClinGen ExAC gnomAD
rs148446230 CA5624714	729	F>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1329581821 CA377742348	732	D>G		No	ClinGen gnomAD
rs761421183 CA5624711	732	D>N		No	ClinGen ExAC gnomAD
CA5624695 rs147407004	734	D>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs763676747 CA5624692	735	E>G		No	ClinGen ExAC gnomAD
rs753454072 CA5624693	735	E>K		No	ClinGen ExAC TOPMed gnomAD
rs763676747 CA377742306	735	E>V		No	ClinGen ExAC gnomAD
CA5624691 rs370720425	737	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA377742263 rs1181411951	738	K>T		No	ClinGen gnomAD
CA212567849 rs866758876	739	D>N		No	ClinGen Ensembl
CA5624690 rs752551885	740	N>Y		No	ClinGen ExAC TOPMed gnomAD
CA212567834 rs898286900	741	G>D		No	ClinGen TOPMed
rs1181829789 CA377742224	741	G>S		No	ClinGen TOPMed gnomAD
rs1357410351 CA377742207	742	G>E		No	ClinGen TOPMed
CA377742214 rs1287375104 CA377742212	742	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs770942511 CA5624686	743	C>G		No	ClinGen ExAC gnomAD
CA5624685 rs763035266	743	C>W		No	ClinGen ExAC gnomAD
rs1036698517 CA212567814	743	C>Y		No	ClinGen TOPMed gnomAD
rs773575751 CA5624684	744	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA
rs367547579 CA5624683	744	Q>H		No	ClinGen ESP ExAC gnomAD
CA212567803 rs748369625	745	H>D		No	ClinGen ExAC TOPMed
CA5624682 rs748369625	745	H>N		No	ClinGen ExAC TOPMed
CA377742152 rs1437595399	746	E>D		No	ClinGen TOPMed
CA377742146 rs1452013387	747	C>G		No	ClinGen Ensembl
CA5624679 COSM3670636 rs747500669	748	V>I	Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA5624680 rs747500669	748	V>L		No	ClinGen ExAC TOPMed gnomAD
rs780560172 CA5624678	749	N>H		No	ClinGen ExAC gnomAD
rs1325846849 CA377742116	749	N>S		No	ClinGen gnomAD
CA377742109 rs1589405834	750	T>P		No	ClinGen Ensembl
RCV000959119 CA5624675 rs112143542	751	F>L		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA5624677 rs756729287	751	F>V		No	ClinGen ExAC gnomAD
rs755818178 CA5624674	752	G>A		No	ClinGen ExAC TOPMed gnomAD
rs994542538 CA212567761	752	G>R		No	ClinGen TOPMed
rs752320626 CA5624673	754	Y>D		No	ClinGen ExAC gnomAD
CA5624670 rs751468416	757	R>S		No	ClinGen ExAC TOPMed gnomAD
rs766275239 CA5624669	758	C>R		No	ClinGen ExAC gnomAD
CA377742038 rs1395773197	760	N>S		No	ClinGen TOPMed
CA5624666 rs764937967	761	G>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	762	Y>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs762167577 CA5624663	763	W>C		No	ClinGen ExAC gnomAD
CA5624665 rs765386571	763	W>R		No	ClinGen ExAC gnomAD
rs1219144389 CA377742006	765	H>Y		No	ClinGen gnomAD
CA5624661 rs149466962	766	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs775863282 CA5624659 CA377741984	768	G>R		No	ClinGen ExAC TOPMed gnomAD
CA377741978 rs1589405778	769	H>Y		No	ClinGen Ensembl
rs1294711924 CA377741967	770	D>A		No	ClinGen Ensembl
TCGA novel	770	D>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA377741924 rs758228429	774	A>D		No	ClinGen ExAC TOPMed gnomAD
CA5624628 rs758228429	774	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1272532459 CA377741920	775	G>D		No	ClinGen TOPMed gnomAD
rs1272532459 CA377741918	775	G>V		No	ClinGen TOPMed gnomAD
CA377741915 rs1451093893	776	C>G		No	ClinGen gnomAD
CA5624627 rs750407645	776	C>Y		No	ClinGen ExAC gnomAD
rs137971250 CA5624626	778	H>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1230319168 CA377741893	779	K>R		No	ClinGen TOPMed
CA5624625 rs757414649	780	I>F		No	ClinGen ExAC gnomAD
CA5624624 rs754014846	781	S>N		No	ClinGen ExAC gnomAD
rs1050480980 CA212565986	783	V>E		No	ClinGen TOPMed
rs764064578 CA377741854 CA5624623	785	G>R		No	ClinGen ExAC TOPMed gnomAD
CA377741849 rs1589405060	786	T>P		No	ClinGen Ensembl
CA377741847 rs1295119953	786	T>S		No	ClinGen gnomAD
rs1415303968 CA377741840	787	L>R		No	ClinGen TOPMed gnomAD
rs868397545 CA377741836	788	A>G		No	ClinGen TOPMed gnomAD
rs150738442 CA5624622	788	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs868397545 CA212565966	788	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA377741817 rs1163623851	791	N>S		No	ClinGen gnomAD
CA5624620 rs547078940	792	W>*		No	ClinGen 1000Genomes ExAC gnomAD
rs1189319606 CA377741807	792	W>*		No	ClinGen gnomAD
rs1189319606 CA377741808 CA377741806	792	W>C		No	ClinGen gnomAD
TCGA novel	793	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1589405039 CA377741780	796	Y>S		No	ClinGen Ensembl
CA5624619 rs759840070	797	P>S		No	ClinGen ExAC TOPMed gnomAD
rs776255041 CA5624616	799	R>L		No	ClinGen ExAC TOPMed gnomAD
rs776255041 CA5624615	799	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA5624617 rs372644801	799	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs917135664 CA212565916	800	R>G		No	ClinGen Ensembl
rs768021885 CA5624614	800	R>S		No	ClinGen ExAC gnomAD
rs369833135 CA5624613	801	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA5624612 rs779524857	804	W>*		No	ClinGen ExAC gnomAD
rs1168867301 CA377741659	806	I>V		No	ClinGen TOPMed
COSM921902 rs183751282 CA5624611	808	S>L	endometrium [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA377741601 rs1349731289	811	G>D		No	ClinGen TOPMed gnomAD
CA377741567 rs1450838299	814	V>M		No	ClinGen TOPMed
TCGA novel	815	K>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA377741536 rs1449117503	816	L>F		No	ClinGen gnomAD
CA377741351 rs1478799200	817	T>I		No	ClinGen TOPMed
CA212563978 rs1051165787	819	N>K		No	ClinGen gnomAD
rs1172869409 CA377741333	820	E>*		No	ClinGen TOPMed
rs781237981 CA5624582	821	F>L		No	ClinGen ExAC gnomAD
CA5624581 rs755246155	821	F>Y		No	ClinGen ExAC gnomAD
CA377741307 rs201257996	823	I>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs758641828 CA5624578	824	E>D		No	ClinGen ExAC gnomAD
rs1322007098 CA377741303	824	E>G		No	ClinGen TOPMed
CA5624579 rs766762802	824	E>K		No	ClinGen ExAC TOPMed gnomAD
CA5624576 CA5624577 rs375552549	826	H>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1263997167 CA377741263	829	C>W		No	ClinGen Ensembl
rs762374927 CA5624575	831	Y>H		No	ClinGen ExAC gnomAD
CA377741240 rs1303769035	833	H>N		No	ClinGen gnomAD
CA5624573 rs767110727	834	L>M		No	ClinGen ExAC TOPMed gnomAD
CA5624572 rs759299230	836	M>T		No	ClinGen ExAC TOPMed gnomAD
CA212563893 rs201905179	837	Y>*		No	ClinGen ExAC TOPMed gnomAD
rs1298136855 CA377741209	837	Y>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs770777831 CA5624570	838	D>N		No	ClinGen ExAC TOPMed gnomAD
rs141213956 CA5624567 CA5624568	839	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs748097625 CA5624566	840	P>L		No	ClinGen ExAC gnomAD
CA5624563 rs747254343	842	S>N		No	ClinGen ExAC TOPMed gnomAD
CA377741172 rs1194988713	843	L>P		No	ClinGen TOPMed gnomAD
CA377741170 rs1429055592	844	A>T		No	ClinGen gnomAD
rs961521139 CA212563864	844	A>V		No	ClinGen TOPMed gnomAD
TCGA novel	845	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5624560 rs145111805	845	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA377741159 rs765619643	846	I>F		No	ClinGen ExAC gnomAD
CA377741157 rs1160709614	846	I>T		No	ClinGen TOPMed
CA5624559 rs765619643	846	I>V		No	ClinGen ExAC gnomAD
rs1336991152 CA377741151	847	L>P		No	ClinGen gnomAD
rs1412140309 CA377741140	849	R>C		No	ClinGen TOPMed
rs141416623 CA5624557	849	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs1307444973 CA377741116	852	G>D		No	ClinGen TOPMed gnomAD
COSM921901 CA5624554 rs368119277	852	G>S	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs1589404003 CA377741108	853	S>R		No	ClinGen Ensembl
CA5624553 rs759063155	854	K>E		No	ClinGen ExAC gnomAD
CA377741107 rs759063155	854	K>Q		No	ClinGen ExAC gnomAD
CA377741103 rs1408289723	854	K>R		No	ClinGen TOPMed
CA377741094 rs774156058	855	K>N		No	ClinGen ExAC gnomAD
rs766016596 CA377741088	856	P>L		No	ClinGen ExAC TOPMed gnomAD
rs766016596 CA5624551	856	P>R		No	ClinGen ExAC TOPMed gnomAD
rs1168710723 CA377741090	856	P>S		No	ClinGen gnomAD
rs1244165995 CA377741081	857	D>E		No	ClinGen TOPMed
CA5624550 rs762658680	858	P>A		No	ClinGen ExAC gnomAD
CA5624549 rs186004686	859	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1359107346 CA377741055	862	S>A		No	ClinGen TOPMed
rs776504923 CA5624546	863	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1481860694 CA377741041	864	S>I		No	ClinGen TOPMed
CA5624545 rs768736391	870	F>L		No	ClinGen ExAC gnomAD
TCGA novel	871	Y>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5624544 rs747025457	872	S>A		No	ClinGen ExAC gnomAD
CA5624543 rs758606928	872	S>L	Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA5624542 rs758606928	872	S>W		No	ClinGen ExAC gnomAD
rs779182843 CA5624540	873	D>H		No	ClinGen ExAC gnomAD
rs998883410 CA212563755	874	A>P		No	ClinGen TOPMed gnomAD
rs903175390 CA212563754	875	S>T		No	ClinGen gnomAD
CA5624539 rs374833353	876	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA377740956 rs1287812731	877	Q>R		No	ClinGen TOPMed gnomAD
CA5624536 rs756687892	880	G>D		No	ClinGen ExAC gnomAD
CA5624537 rs778363965	880	G>S		No	ClinGen ExAC gnomAD
rs1386397616 CA377740923	882	Q>*		No	ClinGen gnomAD
rs148920973 CA5624535	882	Q>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs200330517 CA212563691	885	H>R		No	ClinGen TOPMed gnomAD
rs899879953 CA212563689	887	T>I		No	ClinGen Ensembl
CA377740885 rs1462962724	888	E>K		No	ClinGen gnomAD
CA5624519 rs749595057	890	G>R		No	ClinGen ExAC gnomAD
CA5624517 rs202034413	891	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA212561871 rs202034413	891	G>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs905586932 CA212561870	892	R>K		No	ClinGen Ensembl
CA5624516 rs61743691	896	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs751174504 CA5624514	897	V>G		No	ClinGen ExAC gnomAD
CA5624515 rs547077261	897	V>M		No	ClinGen 1000Genomes ExAC gnomAD
CA5624513 rs779465534	898	Q>*		No	ClinGen ExAC gnomAD
rs757877776 CA5624512	899	T>A		No	ClinGen ExAC gnomAD
CA212561850 rs1057234997	902	L>I		No	ClinGen TOPMed
rs376101551 CA5624509	903	Y>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1345815496 CA377740369	904	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA377740367 rs1305956428	905	H>D		No	ClinGen gnomAD
rs761452298 CA5624507	905	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs1305956428 CA377740366	905	H>Y		No	ClinGen gnomAD
CA5624506 rs753690086	906	A>P		No	ClinGen ExAC gnomAD
CA377740360 rs753690086	906	A>S		No	ClinGen ExAC gnomAD
rs763852596 CA5624505	907	Q>R		No	ClinGen ExAC
CA377740345 rs775454006	908	F>C		No	ClinGen ExAC TOPMed gnomAD
CA5624502 rs775454006	908	F>S		No	ClinGen ExAC TOPMed gnomAD
CA377740346 rs775454006	908	F>Y		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	909	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1364474509 CA377740325	911	N>S		No	ClinGen TOPMed
rs772062862 CA5624501	912	N>S		No	ClinGen ExAC gnomAD
rs1295260440 CA377740306	913	Y>*		No	ClinGen TOPMed
CA5624497 rs749501321	914	P>L		No	ClinGen ExAC TOPMed gnomAD
rs749501321 CA5624496	914	P>Q		No	ClinGen ExAC TOPMed gnomAD
rs140991491 CA5624498	914	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs778327003 CA5624495	915	S>N		No	ClinGen ExAC TOPMed
rs770246868 CA5624494	916	E>*		No	ClinGen ExAC TOPMed gnomAD
rs1476679645 CA377740262	917	A>D		No	ClinGen gnomAD
CA377740267 rs1185088674	917	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA5624493 rs368842312	918	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs368842312 CA377740245	918	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA5624492 rs781682743	923	I>T		No	ClinGen ExAC TOPMed gnomAD
CA5624490 rs745452003	924	V>M		No	ClinGen ExAC TOPMed gnomAD
CA377740151 rs1307077844	925	A>V		No	ClinGen gnomAD
rs1272028184 CA377740133	927	D>N		No	ClinGen TOPMed gnomAD
CA377740109 rs1233122758	928	G>D		No	ClinGen gnomAD
rs973244513 CA212561749	929	Y>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA377740093 rs1278821512 COSM428217	930	G>S	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs147823646 CA212561726	931	V>E		No	ClinGen ESP TOPMed gnomAD
CA5624487 rs76724974	931	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs76724974 CA5624486	931	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1014668991 CA212561721	933	L>V		No	ClinGen Ensembl
CA5624484 rs752585679	936	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA377740011 rs1589402736	937	T>N		No	ClinGen Ensembl
CA377740017 rs1589402740	937	T>P		No	ClinGen Ensembl
rs767419853 CA5624483	939	E>D		No	ClinGen ExAC
CA377739972 rs1412056642	940	V>A		No	ClinGen TOPMed gnomAD
rs1164869485 CA377739929	943	E>G		No	ClinGen gnomAD
TCGA novel	943	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs774541790 CA5624481	945	D>N		No	ClinGen ExAC TOPMed gnomAD
rs774541790 CA5624480	945	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA5624479 rs763303050	946	C>*		No	ClinGen ExAC gnomAD
CA377739887 rs1188663629	946	C>Y		No	ClinGen gnomAD
rs1004762502 CA212561689	947	G>S		No	ClinGen Ensembl
rs770297618 CA5624476	948	Y>*		No	ClinGen ExAC gnomAD
rs1461359916 CA377739821	951	M>T		No	ClinGen TOPMed
CA377739825 COSM1350111 rs1309081176	951	M>V	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
TCGA novel	952	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs748478726 CA5624475	952	E>V		No	ClinGen ExAC gnomAD
CA5624474 rs776857825	953	A>T		No	ClinGen ExAC gnomAD
TCGA novel	953	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs769265877 CA5624473	954	Y>*		No	ClinGen ExAC gnomAD
rs1589402707 CA377739791	954	Y>F		No	ClinGen Ensembl
rs186470524 CA377739784	955	D>E		No	ClinGen 1000Genomes TOPMed gnomAD
CA5624472 rs747449625	955	D>H		No	ClinGen ExAC TOPMed gnomAD
rs1035780660 CA212561660	956	G>S		No	ClinGen TOPMed gnomAD
rs1296130327 CA377739771	957	Y>*		No	ClinGen gnomAD
rs778433703 CA5624471	958	D>Y		No	ClinGen ExAC gnomAD
CA5624470 rs376929999	959	S>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs748961402 CA5624469	960	S>L		No	ClinGen ExAC
rs1001191931 CA212561649	961	A>E		No	ClinGen Ensembl
CA212561644 rs905640033	963	R>T		No	ClinGen Ensembl
rs755863897 CA5624467	965	G>C		No	ClinGen ExAC TOPMed gnomAD
CA377739726 rs755863897	965	G>S		No	ClinGen ExAC TOPMed gnomAD
CA5624466 rs147226382	966	R>C		No	ClinGen ESP ExAC gnomAD
CA377739719 rs1589402674	966	R>H		No	ClinGen Ensembl
rs1179202085 CA377739695	969	G>V		No	ClinGen gnomAD
CA377739693 rs1204506459	970	S>T		No	ClinGen TOPMed
CA5624465 rs142716364	970	S>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA377739672 rs1217394130	972	P>T		No	ClinGen gnomAD
rs1353781503 CA377739655	974	E>G		No	ClinGen gnomAD
TCGA novel	975	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs184714916 CA5624442	975	E>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5624443 rs750591436	975	E>K		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	975	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA377739639 rs1373690217	976	I>M		No	ClinGen TOPMed gnomAD
rs1308357930 CA377739644	976	I>V		No	ClinGen TOPMed
CA5624440 rs753965633	977	Y>*		No	ClinGen ExAC TOPMed gnomAD
CA5624441 rs776577930	977	Y>C		No	ClinGen ExAC gnomAD
CA5624439 rs764540784	978	S>F		No	ClinGen ExAC gnomAD
rs760889468 CA5624438	979	A>T		No	ClinGen ExAC TOPMed gnomAD
CA377739600 rs1335885270	983	L>P		No	ClinGen TOPMed
CA377739594 rs1374907827	984	M>K		No	ClinGen gnomAD
CA377739593 rs1374907827	984	M>T		No	ClinGen gnomAD
rs577537249 CA5624436	986	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA377739579 rs1379163983	986	R>P		No	ClinGen TOPMed gnomAD
CA377739580 rs1379163983	986	R>Q		No	ClinGen TOPMed gnomAD
CA212560703 rs989510590	987	F>L		No	ClinGen TOPMed gnomAD
CA5624434 rs191958370	988	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA5624433 rs372646234	988	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs372646234 CA377739567	988	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	988	R>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA377739560 rs1488355049	990	D>H		No	ClinGen gnomAD
rs1022937324 CA212560684	992	T>I		No	ClinGen Ensembl
rs1208310036 CA377739521	995	K>T		No	ClinGen gnomAD
CA377739508 rs1256959973	997	G>S		No	ClinGen gnomAD
CA377739503 rs1227244257	997	G>V		No	ClinGen gnomAD
TCGA novel	998	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1401115413 CA377739487	999	H>Q		No	ClinGen TOPMed gnomAD
rs1298441265 CA377739490	999	H>R		No	ClinGen gnomAD
CA5624429 rs144448129	1000	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA377739482 rs1311078296	1000	A>V		No	ClinGen gnomAD
rs768503540 CA5624428	1001	R>*		No	ClinGen ExAC TOPMed gnomAD
CA377739478 rs1463594596	1001	R>Q		No	ClinGen TOPMed
rs550588421 CA212560664	1002	Y>*		No	ClinGen 1000Genomes TOPMed
rs746869237 CA5624427	1003	T>P		No	ClinGen ExAC gnomAD
rs772343412 CA212560658	1005	T>A		No	ClinGen Ensembl
CA5624426 rs779984115	1005	T>I		No	ClinGen ExAC gnomAD
TCGA novel	1007	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs748279497 CA5624425	1008	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA377739429 rs1371097693	1009	D>N		No	ClinGen gnomAD
rs1184977787 CA377739418	1010	A>D		No	ClinGen Ensembl
CA5624423 rs779080646	1013	M>T		No	ClinGen ExAC gnomAD
CA212560626 rs893201362	1013	M>V		No	ClinGen Ensembl

No associated diseases with Q9Y6L7

16 regional properties for Q9Y6L7

Type	Name	Position	InterPro Accession
ptm	EGF-type aspartate/asparagine hydroxylation site	592 - 603	IPR000152-1
ptm	EGF-type aspartate/asparagine hydroxylation site	747 - 758	IPR000152-2
domain	EGF-like domain	576 - 617	IPR000742-1
domain	EGF-like domain	732 - 772	IPR000742-2
domain	CUB domain	351 - 463	IPR000859-1
domain	CUB domain	464 - 576	IPR000859-2
domain	CUB domain	620 - 732	IPR000859-3
domain	CUB domain	776 - 888	IPR000859-4
domain	CUB domain	889 - 1005	IPR000859-5
domain	Peptidase M12A	149 - 349	IPR001506
domain	EGF-like calcium-binding domain	576 - 617	IPR001881-1
domain	EGF-like calcium-binding domain	732 - 772	IPR001881-2
domain	Peptidase, metallopeptidase	155 - 297	IPR006026
conserved_site	EGF-like calcium-binding, conserved site	576 - 601	IPR018097-1
conserved_site	EGF-like calcium-binding, conserved site	732 - 756	IPR018097-2
domain	Tolloid/BMP1 peptidase domain	150 - 349	IPR034036

Functions

		Description
EC Number
Subcellular Localization	Secreted
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

2 GO annotations of cellular component

Name	Definition
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.

4 GO annotations of molecular function

Name	Definition
calcium ion binding	Binding to a calcium ion (Ca2+).
metalloendopeptidase activity	Catalysis of the hydrolysis of internal, alpha-peptide bonds in a polypeptide chain by a mechanism in which water acts as a nucleophile, one or two metal ions hold the water molecule in place, and charged amino acid side chains are ligands for the metal ions.
serine-type endopeptidase activity	Catalysis of the hydrolysis of internal, alpha-peptide bonds in a polypeptide chain by a catalytic mechanism that involves a catalytic triad consisting of a serine nucleophile that is activated by a proton relay involving an acidic residue (e.g. aspartate or glutamate) and a basic residue (usually histidine).
zinc ion binding	Binding to a zinc ion (Zn).

5 GO annotations of biological process

Name	Definition
cell differentiation	The process in which relatively unspecialized cells, e.g. embryonic or regenerative cells, acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. Differentiation includes the processes involved in commitment of a cell to a specific fate and its subsequent development to the mature state.
collagen fibril organization	Any process that determines the size and arrangement of collagen fibrils within an extracellular matrix.
dorsal/ventral pattern formation	The regionalization process in which the areas along the dorsal/ventral axis are established that will lead to differences in cell differentiation. The dorsal/ventral axis is defined by a line that runs orthogonal to both the anterior/posterior and left/right axes. The dorsal end is defined by the upper or back side of an organism. The ventral end is defined by the lower or front side of an organism.
negative regulation of skeletal muscle tissue growth	Any process that stops, prevents, or reduces the frequency, rate or extent of skeletal muscle growth.
protein processing	Any protein maturation process achieved by the cleavage of a peptide bond or bonds within a protein. Protein maturation is the process leading to the attainment of the full functional capacity of a protein.

19 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q9DER7	TLL1	Tolloid-like protein 1	Gallus gallus (Chicken)	PR
P25723	tld	Dorsal-ventral patterning protein tolloid	Drosophila melanogaster (Fruit fly)	PR
P98066	TNFAIP6	Tumor necrosis factor-inducible gene 6 protein	Homo sapiens (Human)	PR
P13497	BMP1	Bone morphogenetic protein 1	Homo sapiens (Human)	PR
O43897	TLL1	Tolloid-like protein 1	Homo sapiens (Human)	PR
Q6HA09	Astl	Astacin-like metalloendopeptidase	Mus musculus (Mouse)	PR
O08859	Tnfaip6	Tumor necrosis factor-inducible gene 6 protein	Mus musculus (Mouse)	PR
Q62381	Tll1	Tolloid-like protein 1	Mus musculus (Mouse)	PR
P98063	Bmp1	Bone morphogenetic protein 1	Mus musculus (Mouse)	PR
Q9WVM6	Tll2	Tolloid-like protein 2	Mus musculus (Mouse)	PR
Q9U3S9	nas-6	Zinc metalloproteinase nas-6	Caenorhabditis elegans	PR
P55112	nas-4	Zinc metalloproteinase nas-4	Caenorhabditis elegans	PR
P55113	nas-7	Zinc metalloproteinase nas-7	Caenorhabditis elegans	PR
Q18439	nas-8	Zinc metalloproteinase nas-8	Caenorhabditis elegans	PR
Q20942	nas-38	Zinc metalloproteinase nas-38	Caenorhabditis elegans	PR
Q21252	nas-3	Zinc metalloproteinase nas-3	Caenorhabditis elegans	PR
P55115	nas-15	Zinc metalloproteinase nas-15	Caenorhabditis elegans	PR
Q20176	nas-39	Zinc metalloproteinase nas-39	Caenorhabditis elegans	PR
O57460	tll1	Dorsal-ventral patterning tolloid-like protein 1	Danio rerio (Zebrafish) (Brachydanio rerio)	PR

10	20	30	40	50	60
MPRATALGAL	VSLLLLLPLP	RGAGGLGERP	DATADYSELD	GEEGTEQQLE	HYHDPCKAAV
70	80	90	100	110	120
FWGDIALDED	DLKLFHIDKA	RDWTKQTVGA	TGHSTGGLEE	QASESSPDTT	AMDTGTKEAG
130	140	150	160	170	180
KDGRENTTLL	HSPGTLHAAA	KTFSPRVRRA	TTSRTERIWP	GGVIPYVIGG	NFTGSQRAIF
190	200	210	220	230	240
KQAMRHWEKH	TCVTFIERTD	EESFIVFSYR	TCGCCSYVGR	RGGGPQAISI	GKNCDKFGIV
250	260	270	280	290	300
AHELGHVVGF	WHEHTRPDRD	QHVTIIRENI	QPGQEYNFLK	MEAGEVSSLG	ETYDFDSIMH
310	320	330	340	350	360
YARNTFSRGV	FLDTILPRQD	DNGVRPTIGQ	RVRLSQGDIA	QARKLYKCPA	CGETLQDTTG
370	380	390	400	410	420
NFSAPGFPNG	YPSYSHCVWR	ISVTPGEKIV	LNFTSMDLFK	SRLCWYDYVE	VRDGYWRKAP
430	440	450	460	470	480
LLGRFCGDKI	PEPLVSTDSR	LWVEFRSSSN	ILGKGFFAAY	EATCGGDMNK	DAGQIQSPNY
490	500	510	520	530	540
PDDYRPSKEC	VWRITVSEGF	HVGLTFQAFE	IERHDSCAYD	YLEVRDGPTE	ESALIGHFCG
550	560	570	580	590	600
YEKPEDVKSS	SNRLWMKFVS	DGSINKAGFA	ANFFKEVDEC	SWPDHGGCEH	RCVNTLGSYK
610	620	630	640	650	660
CACDPGYELA	ADKKMCEVAC	GGFITKLNGT	ITSPGWPKEY	PTNKNCVWQV	VAPAQYRISL
670	680	690	700	710	720
QFEVFELEGN	DVCKYDFVEV	RSGLSPDAKL	HGRFCGSETP	EVITSQSNNM	RVEFKSDNTV
730	740	750	760	770	780
SKRGFRAHFF	SDKDECAKDN	GGCQHECVNT	FGSYLCRCRN	GYWLHENGHD	CKEAGCAHKI
790	800	810	820	830	840
SSVEGTLASP	NWPDKYPSRR	ECTWNISSTA	GHRVKLTFNE	FEIEQHQECA	YDHLEMYDGP
850	860	870	880	890	900
DSLAPILGRF	CGSKKPDPTV	ASGSSMFLRF	YSDASVQRKG	FQAVHSTECG	GRLKAEVQTK
910	920	930	940	950	960
ELYSHAQFGD	NNYPSEARCD	WVIVAEDGYG	VELTFRTFEV	EEEADCGYDY	MEAYDGYDSS
970	980	990	1000	1010
APRLGRFCGS	GPLEEIYSAG	DSLMIRFRTD	DTINKKGFHA	RYTSTKFQDA	LHMKK