AiPD: Autoinhibited Protein Database

O43897

Gene name	TLL1 (TLL)
Protein name	Tolloid-like protein 1
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:7092
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

55-181 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

55-181 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

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

Autoinhibited structure

Activated structure

2 structures for O43897

Entry ID	Method	Resolution	Chain	Position	Source
3EDI	X-ray	140 A	A	148-348	PDB
AF-O43897-F1	Predicted				AlphaFoldDB

829 variants for O43897

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV000004289 VAR_062519 rs137852951 CA116643	182	M>L	Atrial septal defect 6 Atrial septal defect 6 (asd6) ASD6 [ClinVar, Ensembl, UniProt]	Yes	ClinGen ClinVar UniProt ESP TOPMed dbSNP gnomAD
RCV002523955 CA16042494 rs137852951 RCV000413781	182	M>V	Atrial septal defect 6 (asd6) Inborn genetic diseases [Ensembl, ClinVar]	Yes	ClinGen ClinVar ESP TOPMed dbSNP gnomAD
RCV000004290 CA116644 RCV001532506 VAR_062520 rs137852952	238	V>A	Atrial septal defect 6 Atrial septal defect 6 (asd6) ASD6 [ClinVar, Ensembl, UniProt]	Yes	ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD
rs137852953 CA116645 RCV000004291 VAR_062521	629	I>V	Atrial septal defect 6 Atrial septal defect 6 (asd6) ASD6 [ClinVar, Ensembl, UniProt]	Yes	ClinGen ClinVar UniProt TOPMed dbSNP gnomAD
CA3130467 rs778475350	2	G>E		No	ClinGen ExAC gnomAD
rs1579426426 CA358787525	3	L>V		No	ClinGen Ensembl
CA358787535 rs1327366360	4	G>A		No	ClinGen TOPMed
rs1405904723 CA358787531	4	G>R		No	ClinGen TOPMed gnomAD
CA3130468 rs745516810	5	T>A		No	ClinGen ExAC gnomAD
rs374302420 CA3130469	5	T>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA358787541 rs1436619545	6	L>I		No	ClinGen gnomAD
TCGA novel	6	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	7	S>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs779541611 CA3130470	7	S>F		No	ClinGen ExAC gnomAD
rs777086531 CA3130473	8	P>L		No	ClinGen ExAC gnomAD
rs368543443 CA3130472	8	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA358787558 rs1459517082	9	R>K		No	ClinGen TOPMed
CA3130474 rs748505954	10	M>L		No	ClinGen ExAC gnomAD
rs1560998943 CA358787573	11	L>F		No	ClinGen Ensembl
rs1331379623 CA358787579	12	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs763233936 CA3130477	13	W>R		No	ClinGen ExAC gnomAD
TCGA novel	14	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs766643596 CA3130479	15	V>G		No	ClinGen ExAC gnomAD
rs764166518 CA3130482	16	A>G		No	ClinGen ExAC gnomAD
CA110012902 rs957578581	17	S>*		No	ClinGen Ensembl
rs1579426573 CA358787608	17	S>P		No	ClinGen Ensembl
rs1361564127 CA358787614	18	G>A		No	ClinGen TOPMed
rs753791065 CA3130483	18	G>R		No	ClinGen ExAC gnomAD
CA358787617 rs1458421475	19	I>V		No	ClinGen gnomAD
TCGA novel CA358787634 rs1316134897	21	F>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA3130484 rs72984287 CA358787645	23	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA358787654 rs1404648542	24	E>G		No	ClinGen gnomAD
CA358787650 rs1239742986	24	E>K		No	ClinGen TOPMed
CA358787655 rs1404648542	24	E>V		No	ClinGen gnomAD
rs1335741204 CA358787686	29	A>T		No	ClinGen gnomAD
CA3130489 rs746555814	32	D>H		No	ClinGen ExAC gnomAD
rs754457881 CA3130490	33	Y>C		No	ClinGen ExAC gnomAD
CA358787736 rs1304926037	36	T>P		No	ClinGen TOPMed gnomAD
CA3130492 rs748676817	37	F>L		No	ClinGen ExAC gnomAD
CA3130491 rs781602997	37	F>S		No	ClinGen ExAC gnomAD
rs1279448258 CA358787752	38	D>E		No	ClinGen TOPMed gnomAD
rs1202207880 CA358787747	38	D>H		No	ClinGen gnomAD
rs1181004872 CA358787764	40	N>S		No	ClinGen gnomAD
CA3130493 rs770125037	41	E>K		No	ClinGen ExAC gnomAD
rs1473441129 CA358787779	42	E>G		No	ClinGen gnomAD
rs1428121694 CA358787786	43	D>G		No	ClinGen TOPMed gnomAD
rs773632261 CA110012921	43	D>H		No	ClinGen ExAC TOPMed gnomAD
rs773632261 CA3130494	43	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs749564223 CA3130495	44	K>E		No	ClinGen ExAC
rs1579426759 CA358787792	44	K>R		No	ClinGen Ensembl
rs372929571 CA110012926	45	T>R		No	ClinGen ESP TOPMed gnomAD
rs771309383 CA3130498	47	T>P		No	ClinGen ExAC
rs946221093 CA110012929	47	T>S		No	ClinGen TOPMed
CA358787817 rs1406752459	48	I>T		No	ClinGen TOPMed
CA358787828 rs1173765175	50	Y>N		No	ClinGen gnomAD
TCGA novel	52	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs774683617 CA3130499	53	P>R		No	ClinGen ExAC gnomAD
CA358787857 rs1213655117	54	C>S		No	ClinGen TOPMed gnomAD
CA3130500 rs759739358	55	K>E		No	ClinGen ExAC gnomAD
rs372777602	56	A>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA358787872 rs767687320	56	A>P		No	ClinGen ExAC gnomAD
rs767687320 CA3130501	56	A>T		No	ClinGen ExAC gnomAD
CA358787876 rs1382160192	56	A>V		No	ClinGen TOPMed
rs1401275462 CA358787910	58	V>I		No	ClinGen TOPMed
TCGA novel	59	F>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs775027340 CA110042202	61	G>C		No	ClinGen ExAC TOPMed gnomAD
rs543722676 CA110042203	61	G>D		No	ClinGen gnomAD
rs775027340 CA3130528	61	G>S		No	ClinGen ExAC TOPMed gnomAD
CA110042204 rs910852907	62	D>N		No	ClinGen Ensembl
CA358787940 rs1379019397	62	D>V		No	ClinGen TOPMed
rs1249581340 CA358787951	64	A>S		No	ClinGen gnomAD
rs1249581340 CA358787952	64	A>T		No	ClinGen gnomAD
TCGA novel	66	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1464945278 CA358787976	67	D>G		No	ClinGen gnomAD
CA358787975 rs1464945278	67	D>V		No	ClinGen gnomAD
TCGA novel	69	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1182497000 CA358788007	71	N>S		No	ClinGen gnomAD
rs755547554 CA3130530	72	I>V		No	ClinGen ExAC TOPMed gnomAD
CA358788017 rs1426103324	73	F>L		No	ClinGen gnomAD
CA358788024 rs1188614553	74	Q>K		No	ClinGen gnomAD
CA3130531 rs778392264	74	Q>R		No	ClinGen ExAC gnomAD
rs760463098 CA3130532	75	I>L		No	ClinGen ExAC gnomAD
TCGA novel	75	I>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA110042206 rs757758562	76	D>E		No	ClinGen ExAC gnomAD
CA110042205 rs973789645	76	D>G		No	ClinGen gnomAD
rs779421547 CA3130534	77	R>K		No	ClinGen ExAC gnomAD
CA358788050 rs1263059410	78	T>A		No	ClinGen TOPMed
rs1415301298 CA358788059	79	I>T		No	ClinGen Ensembl
rs1195091634 CA358788056	79	I>V		No	ClinGen TOPMed
rs746174069 CA3130535	80	D>G		No	ClinGen ExAC gnomAD
CA3130536 COSM287272 rs148035251	82	T>M	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	83	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs138631345 CA3130538	83	Q>R		No	ClinGen 1000Genomes ExAC gnomAD
rs768600236 CA3130539	84	N>I		No	ClinGen ExAC TOPMed gnomAD
rs1269602336 CA358788093	84	N>K		No	ClinGen gnomAD
CA3130540 rs773196572	85	P>H		No	ClinGen ExAC gnomAD
TCGA novel	85	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1208764967 CA358788103	86	F>S		No	ClinGen gnomAD
rs762873481 CA3130541	89	L>F		No	ClinGen ExAC gnomAD
CA110042207 rs199971582	89	L>P		No	ClinGen 1000Genomes gnomAD
TCGA novel	90	G>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3130543 rs527380265	90	G>E		No	ClinGen 1000Genomes ExAC gnomAD
CA3130542 rs770788836	90	G>R		No	ClinGen ExAC gnomAD
rs767237908 CA3130545	91	H>R		No	ClinGen ExAC gnomAD
rs760290265 CA3130547	92	T>I		No	ClinGen ExAC TOPMed gnomAD
rs373850201 CA3130560	96	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs377042841 CA358788193 CA3130561	98	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs771749988 CA3130563	99	H>D		No	ClinGen ExAC TOPMed gnomAD
rs775279862 CA3130564	101	M>I		No	ClinGen ExAC gnomAD
rs929911038 CA110042576	101	M>T		No	ClinGen TOPMed
TCGA novel	101	M>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	103	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1282780770 CA358788229	104	K>E		No	ClinGen TOPMed
rs760244525 CA3130565	104	K>T		No	ClinGen ExAC
CA3130566 rs147223461	105	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs776299665 CA3130567	107	A>V		No	ClinGen ExAC gnomAD
COSM207721 rs765888239 CA3130569	109	Y>C	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA3130570 rs138967219	110	Q>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA110042577 rs535270477	111	L>H		No	ClinGen Ensembl
rs76013943 CA358788278	112	I>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3130571 rs76013943	112	I>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs766652780 CA3130572	113	D>Y		No	ClinGen ExAC gnomAD
CA110042578 rs953076597	117	R>G		No	ClinGen Ensembl
rs942317592 CA110042579	118	I>T		No	ClinGen TOPMed
CA358788352 rs1461827209	121	G>V		No	ClinGen gnomAD
TCGA novel	122	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	125	N>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs567766293 CA3130596	128	V>I		No	ClinGen 1000Genomes ExAC gnomAD
rs1386060177 CA358788406	129	K>T		No	ClinGen gnomAD
rs866987397 CA110042708	130	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs777831768 CA3130597	130	G>R		No	ClinGen ExAC TOPMed gnomAD
CA358788419 rs1327757257	131	K>R		No	ClinGen Ensembl
rs753897302 CA3130599	132	V>A		No	ClinGen ExAC gnomAD
CA358788423 rs1368243570	132	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA110042710 rs868789121	133	P>H		No	ClinGen gnomAD
rs868789121 CA358788432	133	P>L		No	ClinGen gnomAD
rs758290238 CA3130600	135	Q>P		No	ClinGen ExAC gnomAD
rs780001007 CA3130601	138	G>R		No	ClinGen ExAC gnomAD
CA110042712 rs372099438	139	Q>K		No	ClinGen Ensembl
CA358788500 rs1286653471	143	N>S		No	ClinGen gnomAD
CA3130602 COSM2153244 rs746817970	144	R>*	Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	145	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs991649640 CA110042713	146	P>A		No	ClinGen TOPMed
CA358788518 rs1209388063	146	P>L		No	ClinGen TOPMed gnomAD
CA358788525 rs768551626	147	R>S		No	ClinGen ExAC TOPMed gnomAD
rs537288580 COSM298162 CA110042714	149	A>T	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated Ensembl NCI-TCGA
TCGA novel	151	S>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs769504335 CA3130606	151	S>L		No	ClinGen ExAC gnomAD
CA3130607 rs115824698 COSM258587	153	T>M	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs1454929160 CA358788557	153	T>S		No	ClinGen TOPMed
CA358788577 rs1464881535	156	I>L		No	ClinGen TOPMed
rs1285008332 CA358788581	156	I>M		No	ClinGen TOPMed
rs1207038779 CA358788594	158	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1579595721 CA358788598	159	G>R		No	ClinGen Ensembl
rs771376008 CA3130609	160	G>A		No	ClinGen ExAC gnomAD
COSM241912 CA3130612 rs116343169	161	V>I	prostate [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs752989197 CA3130613	162	I>V		No	ClinGen ExAC TOPMed gnomAD
rs867430345 CA110042715	163	P>S		No	ClinGen Ensembl
rs764328185 CA3130615	165	V>A		No	ClinGen ExAC gnomAD
CA3130616 rs753893865	166	I>T		No	ClinGen ExAC gnomAD
CA3130618 rs375415609	167	G>A		No	ClinGen ESP ExAC gnomAD
CA3130617 rs757327489	167	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	168	G>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs751502895 CA3130619	168	G>R		No	ClinGen ExAC gnomAD
rs754888614 CA3130620	170	F>S		No	ClinGen ExAC gnomAD
rs1221064238 CA358788668	171	T>A		No	ClinGen gnomAD
CA3130637 rs761858668	172	G>A		No	ClinGen ExAC gnomAD
rs908557499 CA110042717	172	G>S		No	ClinGen TOPMed gnomAD
rs1392624667 CA358788707	175	R>T		No	ClinGen gnomAD
CA556067996 rs1163072013	176	A>LH*		No	ClinGen gnomAD
rs1462788720 CA358788711	176	A>S		No	ClinGen gnomAD
rs1388781620 CA358788721	177	M>T		No	ClinGen gnomAD
TCGA novel	181	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1326583162 CA358788765	183	R>K		No	ClinGen gnomAD
CA3130638 rs371458224	186	E>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA3130639 COSM3927417 rs750462724	189	T>I	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs767517460 CA3130641	194	I>T		No	ClinGen ExAC gnomAD
rs755944848 CA358788861	196	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA3130643 rs755944848	196	R>K		No	ClinGen ExAC TOPMed gnomAD
rs1174170332 CA358788867	197	S>N		No	ClinGen TOPMed
rs1434361541 CA358788892	200	E>G		No	ClinGen TOPMed
rs376598847 CA3130646	203	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA358788935 rs1261021495	206	T>N		No	ClinGen TOPMed
CA358788947 rs1187209513	208	R>W		No	ClinGen gnomAD
rs1411455737 CA358789020	216	V>A		No	ClinGen gnomAD
CA3130664 rs372040520	216	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1579609000 CA358789023	217	G>S		No	ClinGen Ensembl
CA110043704 rs1019855568	218	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs965632437 CA110043705	219	R>*		No	ClinGen Ensembl
TCGA novel	221	N>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1161383022 CA358789048	221	N>K		No	ClinGen gnomAD
CA3130665 rs753515510	221	N>S		No	ClinGen ExAC gnomAD
CA358789061 rs1345859517	223	P>L		No	ClinGen gnomAD
TCGA novel	224	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs745422151 CA3130668	226	I>M		No	ClinGen ExAC gnomAD
CA110043706 rs375135985	229	G>D		No	ClinGen ESP
CA3130670 rs780593601	229	G>S		No	ClinGen ExAC gnomAD
CA110043707 rs375135985	229	G>V		No	ClinGen ESP
TCGA novel	231	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1226194879 CA358789118	232	C>S		No	ClinGen gnomAD
rs975034938 CA110043708	235	F>S		No	ClinGen Ensembl
rs781630786 CA3130672	239	V>A		No	ClinGen ExAC gnomAD
COSM72990 CA358789165 rs1254734640	239	V>F	ovary [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA3130674 rs770090725	246	I>T		No	ClinGen ExAC gnomAD
TCGA novel	247	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA358789288 rs1432637447	256	D>G		No	ClinGen gnomAD
CA3130678 rs774503754	257	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs774503754 CA358789291	257	R>G		No	ClinGen ExAC TOPMed gnomAD
CA3130679 rs760672440	258	D>N		No	ClinGen ExAC TOPMed gnomAD
rs143865061 CA3130681	259	N>S		No	ClinGen ESP ExAC gnomAD
CA3130680 rs143865061	259	N>T		No	ClinGen ESP ExAC gnomAD
rs1173958942 CA358789309	260	H>Y		No	ClinGen TOPMed gnomAD
CA3130683 rs764917991	261	V>I		No	ClinGen ExAC TOPMed gnomAD
rs375349466 CA3130684	263	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA3130685 rs757968409	264	I>V		No	ClinGen ExAC TOPMed gnomAD
rs779546008 CA3130686	266	E>K		No	ClinGen ExAC gnomAD
CA358789368 rs1298582970	269	Q>K		No	ClinGen gnomAD
CA3130687 rs560690746	270	P>R		No	ClinGen ExAC TOPMed gnomAD
rs146873424 CA3130702	271	G>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1235666475 CA358789382	271	G>R		No	ClinGen gnomAD
rs17590218 CA358789414	273	E>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3130705 rs762609389	274	Y>N		No	ClinGen ExAC gnomAD
TCGA novel	276	F>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3130706 rs765968451	278	K>Q		No	ClinGen ExAC gnomAD
rs1274167826 CA358789450	279	M>L		No	ClinGen gnomAD
CA110044250 rs775028588	280	E>D		No	ClinGen Ensembl
CA110044251 rs369917918	284	V>I		No	ClinGen ESP TOPMed gnomAD
rs754418211 CA3130708	286	S>L		No	ClinGen ExAC gnomAD
rs751112414 CA3130707	286	S>P		No	ClinGen ExAC gnomAD
rs1474397099 CA358789537	291	Y>*		No	ClinGen gnomAD
CA358789533 rs1247293417	291	Y>S		No	ClinGen gnomAD
rs753133420 CA3130710	293	F>L		No	ClinGen ExAC TOPMed gnomAD
CA110044252 rs965798014	294	D>N		No	ClinGen TOPMed gnomAD
rs1335247211 CA358789563	295	S>N		No	ClinGen TOPMed
rs756616432 CA3130711	296	I>V		No	ClinGen ExAC gnomAD
TCGA novel	297	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs778292512 CA3130712	297	M>T		No	ClinGen ExAC gnomAD
rs1162324089 CA358789576	297	M>V		No	ClinGen TOPMed gnomAD
CA3130713 rs749618680	298	H>P		No	ClinGen ExAC gnomAD
CA358789585 rs749618680	298	H>R		No	ClinGen ExAC gnomAD
TCGA novel	298	H>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs947716192 CA110044253	300	A>S		No	ClinGen Ensembl
COSM1539482 CA358789655 rs1259362470	306	R>S	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
COSM108097 CA110044890 rs141146326	307	G>R	skin [Cosmic]	No	ClinGen cosmic curated Ensembl
CA3130740 rs375718088	308	M>L		No	ClinGen ExAC TOPMed gnomAD
CA3130739 rs375718088	308	M>V		No	ClinGen ExAC TOPMed gnomAD
rs1430856926 CA358789703	314	L>F		No	ClinGen TOPMed
TCGA novel	314	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs774680698 CA3130741 COSM39648	317	R>C	large_intestine central_nervous_system [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs774121797 CA3130742	317	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA358789725 rs1158673730	318	D>N		No	ClinGen gnomAD
CA358789740 rs1579624769	319	D>E		No	ClinGen Ensembl
CA358789736 rs1560811600	319	D>G		No	ClinGen Ensembl
CA358789746 rs1425412097	320	N>I		No	ClinGen TOPMed
CA3130743 rs759117781	322	I>T		No	ClinGen ExAC TOPMed gnomAD
rs1433414959 CA358789763	323	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA358789764 rs1175843502	323	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs774891568 CA3130745	325	A>E		No	ClinGen ExAC gnomAD
COSM3781126 rs761905682 CA358789799	329	R>*	pancreas [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA358789801 COSM1131187 rs1274354943	329	R>Q	Variant assessed as Somatic; impact. prostate [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs757762634 CA3130749	331	R>C		No	ClinGen ExAC TOPMed gnomAD
CA3130750 rs377432062	331	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
TCGA novel	332	L>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs750739998 COSM1309876 CA3130751	332	L>V	urinary_tract [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA3130752 rs550704422	334	K>E		No	ClinGen 1000Genomes ExAC gnomAD
CA110044893 rs550704422	334	K>Q		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	336	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3130753 rs116699847	337	I>V		No	ClinGen 1000Genomes ExAC gnomAD
rs114287070 CA3130755	338	A>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs114287070 CA3130756	338	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA358789868 rs1181828348	340	A>G		No	ClinGen TOPMed gnomAD
CA3130758 rs770837087	342	K>Q		No	ClinGen ExAC gnomAD
rs1196029423 CA358789880	342	K>R		No	ClinGen gnomAD
rs900602193 CA110044895	344	Y>C		No	ClinGen Ensembl
CA358789898 rs1396253783	345	R>K		No	ClinGen gnomAD
rs778589705 CA3130759	346	C>Y		No	ClinGen ExAC gnomAD
CA3130782 rs779918854	348	A>E		No	ClinGen ExAC gnomAD
CA110046102 rs964152618	350	G>E		No	ClinGen Ensembl
CA3130783 rs143156547	352	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1223220704 CA358789972	354	Q>E		No	ClinGen TOPMed
CA3130785 rs776301640	357	N>D		No	ClinGen ExAC TOPMed gnomAD
rs761347139 CA3130786	357	N>I		No	ClinGen ExAC TOPMed gnomAD
rs761347139 CA358789996	357	N>S		No	ClinGen ExAC TOPMed gnomAD
CA358790003 rs1203887128	358	G>D		No	ClinGen gnomAD
CA110046105 rs563293641	359	N>K		No	ClinGen ExAC TOPMed gnomAD
CA358790008 rs1208913171	359	N>T		No	ClinGen TOPMed
rs1447906587 CA358790014	360	L>F		No	ClinGen gnomAD
rs1447906587 CA358790012	360	L>I		No	ClinGen gnomAD
rs371786292 CA110046106	361	S>P		No	ClinGen ESP TOPMed
CA3130788 rs773748651	362	S>C		No	ClinGen ExAC gnomAD
TCGA novel	362	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3130790 rs766728139	365	F>L		No	ClinGen ExAC gnomAD
CA358790049 rs1411322301	366	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA358790054 rs1451790619	367	N>D		No	ClinGen gnomAD
rs114832064 CA3130792	367	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3130794 rs752811200	369	Y>*		No	ClinGen ExAC gnomAD
rs767680646 CA3130793	369	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA3130795 rs756191805	370	P>A		No	ClinGen ExAC TOPMed gnomAD
CA358790094 rs1306840449	373	T>I		No	ClinGen TOPMed gnomAD
rs983403110 CA110046108	374	H>Y		No	ClinGen Ensembl
rs1173766224 CA358790117	376	I>T		No	ClinGen TOPMed
CA3130797 rs201364004	377	W>R		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	380	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs758200613 CA3130798	382	T>I		No	ClinGen ExAC gnomAD
CA110046109 rs1035977085	385	E>Q		No	ClinGen gnomAD
rs957423669 CA110046110	385	E>V		No	ClinGen TOPMed
TCGA novel	390	N>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	391	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs115185843 CA3130822	393	T>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	393	T>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3130823 rs755659453	396	L>V		No	ClinGen ExAC gnomAD
rs1401261217 CA358682688	398	K>Q		No	ClinGen gnomAD
rs1354792035 CA358682721	399	S>R		No	ClinGen gnomAD
rs1460424214 CA358682724	400	S>G		No	ClinGen gnomAD
CA3130826 rs771463215 CA358682737	400	S>R		No	ClinGen ExAC gnomAD
TCGA novel	403	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1442280928 CA358682811	403	W>C		No	ClinGen gnomAD
rs1001361438 CA109772669	403	W>R		No	ClinGen TOPMed
CA358682819 rs1382624477	404	Y>N		No	ClinGen gnomAD
CA358682874 rs1164351836	406	Y>C		No	ClinGen TOPMed
CA358682864 rs1579658499	406	Y>H		No	ClinGen Ensembl
rs1360292272 CA358682901	407	I>T		No	ClinGen gnomAD
CA358682891 rs1320012158	407	I>V		No	ClinGen TOPMed gnomAD
CA109772671 rs759330121	408	E>D		No	ClinGen Ensembl
rs959976010 CA109772689	409	V>A		No	ClinGen TOPMed
rs992740903 CA109772711	412	G>A		No	ClinGen TOPMed gnomAD
TCGA novel	413	Y>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	414	W>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3130829 rs772419393	415	R>K		No	ClinGen ExAC gnomAD
rs1231465467 CA358683067	418	P>R		No	ClinGen gnomAD
CA358683060 rs1334466086	418	P>S		No	ClinGen gnomAD
rs1197224584 CA358683074	419	L>P		No	ClinGen TOPMed
rs1275126279 CA358683071	419	L>V		No	ClinGen gnomAD
rs775648272 CA3130830	420	L>F		No	ClinGen ExAC gnomAD
CA3130831 rs760963855	420	L>R		No	ClinGen ExAC gnomAD
rs1051705724 CA109774683	421	G>V		No	ClinGen Ensembl
CA358683405 rs1456163527	422	R>G		No	ClinGen TOPMed
rs753480448 CA3130859 COSM3428314	423	F>L	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA358683493 rs1441503773	424	C>Y		No	ClinGen gnomAD
CA358683516 rs1277860042	425	G>R		No	ClinGen gnomAD
rs1375707329 CA358683523	426	D>H		No	ClinGen gnomAD
rs1286713651 CA358683651	431	V>I		No	ClinGen gnomAD
CA109774715 rs943466077	433	T>N		No	ClinGen gnomAD
CA3130861 rs778405302	433	T>S		No	ClinGen ExAC TOPMed gnomAD
rs1442657878 CA358683742	434	S>F		No	ClinGen gnomAD
CA358683774 rs1230670258	436	D>E		No	ClinGen TOPMed gnomAD
rs1265560673 CA358683766	436	D>G		No	ClinGen TOPMed
CA358683815 rs1470909754	437	S>R		No	ClinGen gnomAD
CA358683829 rs1254712205	438	R>T		No	ClinGen TOPMed
CA109774737 rs990470598	439	M>T		No	ClinGen TOPMed
rs867704143 CA109774739	440	W>*		No	ClinGen Ensembl
rs758974047 CA3130864	440	W>*		No	ClinGen ExAC gnomAD
TCGA novel	441	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3130865 rs780394127	442	E>A		No	ClinGen ExAC gnomAD
COSM233585 CA358683969 rs1452918005	444	R>C	Variant assessed as Somatic; 0.0 impact. central_nervous_system skin [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA3130866 rs150329580	444	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA gnomAD
rs1409605158 CA358683979	445	S>G		No	ClinGen gnomAD
rs1327174263 CA358684072	448	N>T		No	ClinGen gnomAD
rs1046165531 CA109774761	449	W>*		No	ClinGen TOPMed
rs781545142 CA3130868	449	W>R		No	ClinGen ExAC gnomAD
rs748387930 CA3130869	452	K>R		No	ClinGen ExAC gnomAD
rs770087108 CA3130870 COSM402533	453	G>S	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA
TCGA novel	454	F>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3130872 rs763090614	458	Y>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	459	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1478276075	460	A>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs772090014 CA3130873	460	A>P		No	ClinGen ExAC TOPMed gnomAD
CA3130874 rs772090014	460	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA3130891 rs774419350	460	A>V		No	ClinGen ExAC
rs746930324 CA3130892	461	I>M		No	ClinGen ExAC gnomAD
TCGA novel	461	I>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1036689550 CA109775513	462	C>Y		No	ClinGen TOPMed
rs776440303 CA3130894	465	E>K		No	ClinGen ExAC TOPMed gnomAD
rs897708593 CA109775523	466	I>L		No	ClinGen TOPMed
CA3130896 rs777905713	467	R>C		No	ClinGen ExAC gnomAD
CA3130897 rs138017521	467	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA358684690 rs138017521	467	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs138017521 CA109775548	467	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA3130895 rs777905713	467	R>S		No	ClinGen ExAC gnomAD
TCGA novel	469	N>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs746995698 CA109775550	472	Q>*	Atrial septal defect 6 (asd6) [Ensembl]	No	ClinGen Ensembl
rs762591575 CA3130898	474	Q>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs765812428 CA3130899	474	Q>L		No	ClinGen ExAC gnomAD
rs142157559 CA3130900	476	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA3130902 rs756131972	477	N>S		No	ClinGen ExAC TOPMed gnomAD
CA3130901 rs755465447	477	N>Y		No	ClinGen ExAC gnomAD
CA3130903 rs753155516	479	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1292349321 CA358684768	479	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA358684777 rs1266501527	480	D>E		No	ClinGen TOPMed gnomAD
rs1354791371 CA358684771	480	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA3130905 rs778204279	482	Y>C		No	ClinGen ExAC gnomAD
CA3130906 rs749472210	483	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1373061747 COSM1428415 CA358684804	484	P>L	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
TCGA novel	484	P>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1300673423 CA358684807	485	M>L		No	ClinGen gnomAD
CA3130907 rs757440024	486	K>E		No	ClinGen ExAC gnomAD
COSM586474 rs778879841 CA3130908	487	E>Q	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1476203303 CA358684829	488	C>S		No	ClinGen gnomAD
rs745919424 CA3130909	488	C>Y		No	ClinGen ExAC gnomAD
rs768619554 CA3130910	489	V>M		No	ClinGen ExAC
CA3130911 rs776527699	491	K>R		No	ClinGen ExAC TOPMed gnomAD
rs747994761 CA3130912	492	I>T		No	ClinGen ExAC gnomAD
rs1362195860 CA358684869	494	V>L		No	ClinGen gnomAD
rs769573225 CA3130913	496	E>A		No	ClinGen ExAC gnomAD
CA3130915 rs746387398	498	Y>C		No	ClinGen ExAC gnomAD
rs772924956 CA3130914	498	Y>H		No	ClinGen ExAC gnomAD
rs1312820045 CA358684909	500	V>I		No	ClinGen TOPMed gnomAD
rs1312820045 CA358684910	500	V>L		No	ClinGen TOPMed gnomAD
rs1334731884 CA358684919	501	G>R		No	ClinGen gnomAD
CA3130916 rs770570929	503	T>N		No	ClinGen ExAC gnomAD
TCGA novel	508	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	508	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1259923203 CA358687061	515	C>Y		No	ClinGen gnomAD
rs1579681637 CA358687127	518	D>A		No	ClinGen Ensembl
CA3130947 rs780122164	519	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs780122164 CA3130948	519	Y>F		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	520	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs150728189 COSM108605 CA109784124	521	E>K	Variant assessed as Somatic; impact. skin [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated Ensembl NCI-TCGA
CA358687202 rs1321279661	522	V>I		No	ClinGen TOPMed
rs1261967851 CA358687246	524	D>G		No	ClinGen TOPMed
CA358687363 rs1416508631	528	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	529	N>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs373699573 CA3130952	529	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA3130953 rs770750840	530	S>R		No	ClinGen ExAC
CA3130955 rs745525443	531	P>H		No	ClinGen ExAC TOPMed gnomAD
rs367887489 CA3130954	531	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA3130956 rs771798057	532	L>V		No	ClinGen ExAC gnomAD
rs750375005 CA3130957	533	I>L		No	ClinGen ExAC TOPMed gnomAD
rs1361728803 CA358687493	534	G>V		No	ClinGen TOPMed
CA3130958 rs746485015	535	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
COSM3335607 rs200511852 CA3130959	535	R>H	oesophagus [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1286031560 CA358687536	537	C>Y		No	ClinGen gnomAD
rs777181814 CA3130960	538	G>D		No	ClinGen ExAC gnomAD
rs762150851 CA3130961	540	D>E		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	540	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1336231191 CA358687630	543	E>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs116465330 CA358687663	545	I>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA358687677 rs1351183608	545	I>R		No	ClinGen gnomAD
rs116465330 CA3130962	545	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1218550302 CA358687708	548	T>S		No	ClinGen gnomAD
CA3130964 rs763186518	550	N>S		No	ClinGen ExAC TOPMed gnomAD
CA3130966 rs751680607 CA109784196	554	M>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC gnomAD NCI-TCGA
rs1238690758 CA358687839	554	M>L		No	ClinGen TOPMed gnomAD
rs1238690758 CA358687838	554	M>V		No	ClinGen TOPMed gnomAD
CA358687908 rs1459933466	557	V>A		No	ClinGen TOPMed
CA3130967 rs537688226	557	V>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs537688226 CA358687906	557	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs537688226 CA3130968	557	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs753813525 CA3130969	558	S>T		No	ClinGen ExAC gnomAD
CA3130971 rs778788323	560	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA3130972 rs745615485	561	T>I		No	ClinGen ExAC TOPMed gnomAD
rs1441617922 CA358688036	563	N>I		No	ClinGen gnomAD
CA358688033 rs1441617922	563	N>S		No	ClinGen gnomAD
CA358688104 rs1374589303	566	G>R		No	ClinGen gnomAD
rs559192808 CA3130974	568	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3130975 rs559192808	568	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs769211055 CA3130976	568	A>V		No	ClinGen ExAC gnomAD
rs1403537996 CA358688130	569	A>P		No	ClinGen TOPMed gnomAD
TCGA novel	569	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1346957621 CA358688134	569	A>V		No	ClinGen gnomAD
TCGA novel	572	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	574	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs202156009 CA3131000	574	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
COSM110429 rs139529071 CA109785468	576	D>V	skin [Cosmic]	No	ClinGen cosmic curated Ensembl
rs1171247703 CA358689273	577	E>Q		No	ClinGen gnomAD
CA358689336 rs1389945257	578	C>F		No	ClinGen gnomAD
rs1389945257 CA358689316	578	C>Y		No	ClinGen gnomAD
rs770572046 CA3131001	579	A>P		No	ClinGen ExAC gnomAD
CA358689412 rs774053086	580	K>I		No	ClinGen ExAC TOPMed gnomAD
rs774053086 CA3131002	580	K>R		No	ClinGen ExAC TOPMed gnomAD
CA109785488 rs759356958	581	P>H		No	ClinGen ExAC gnomAD
CA3131003 rs759356958	581	P>L		No	ClinGen ExAC gnomAD
rs1166417782 CA358689425	582	D>N		No	ClinGen TOPMed
CA3131004 rs148087185	583	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
COSM3409153 rs141877254 CA3131005	583	R>H	central_nervous_system [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs141877254 CA3131006	583	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs750536542 CA3131008	589	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1354865253 CA358689607	590	C>R		No	ClinGen gnomAD
CA358689700 rs1212219569	593	T>P		No	ClinGen gnomAD
CA358689793 COSM733182 rs1265647974	598	Q>H	lung [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA358689818 rs1260069934	600	A>T		No	ClinGen TOPMed
rs1187333124 CA358689821	600	A>V		No	ClinGen gnomAD
rs1456327457 CA358689852	602	E>D		No	ClinGen gnomAD
rs753197281 CA3131014	604	G>R		No	ClinGen ExAC gnomAD
rs777194759 CA3131016	605	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs777194759 CA358689878	605	Y>F		No	ClinGen ExAC TOPMed gnomAD
CA358689872 rs1418911506	605	Y>H		No	ClinGen gnomAD
rs1312009185 CA358689903	607	L>P		No	ClinGen TOPMed
CA358689909 rs1311382815	608	G>D		No	ClinGen gnomAD
rs778509718 CA3131019	608	G>S		No	ClinGen ExAC gnomAD
CA358689925 rs1234142657	610	D>N		No	ClinGen TOPMed
rs866670413 CA109785566	612	R>K		No	ClinGen Ensembl
CA358689967 rs1408963411 COSM1052983	613	S>N	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA109785595 rs377648421	614	C>Y		No	ClinGen Ensembl
CA3131023 rs775163624	615	E>G		No	ClinGen ExAC gnomAD
rs576376011 CA3131048	617	A>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1386596212 COSM1052984 CA358690428	617	A>S	endometrium [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs1386596212 CA358690434	617	A>T		No	ClinGen TOPMed gnomAD
rs576376011 CA358690435	617	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA109787596 rs761382477	619	G>D		No	ClinGen Ensembl
CA3131049 rs771084629	619	G>S		No	ClinGen ExAC gnomAD
TCGA novel	621	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs774306143 CA3131050	622	L>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	623	T>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA109787620 rs976431243	624	K>E		No	ClinGen TOPMed
CA3131052 rs767626674	625	L>F		No	ClinGen ExAC gnomAD
TCGA novel	625	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs114032464 CA3131054	626	N>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA358690577 rs1423406007	627	G>D		No	ClinGen TOPMed
rs565356664 CA3131055 COSM1052985	627	G>S	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs532472535 CA3131056	628	T>N		No	ClinGen 1000Genomes ExAC
CA358690629 rs1264740915	630	T>N		No	ClinGen TOPMed gnomAD
CA3131057 rs757778223	631	T>N		No	ClinGen ExAC gnomAD
rs1286090961 CA358690681	635	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs1483636332 CA358690697	636	K>R		No	ClinGen TOPMed
CA358690742 rs1239230976	639	P>A		No	ClinGen TOPMed
rs1463646191 CA358690755	640	P>A		No	ClinGen gnomAD
rs749898361 CA3131059	640	P>H		No	ClinGen ExAC gnomAD
CA109787676 rs936019312	641	N>D		No	ClinGen TOPMed
rs1292152415 CA358690786	642	K>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
COSM1539479 CA358690801 rs1579689507	643	N>S	lung [Cosmic]	No	ClinGen cosmic curated Ensembl
CA358690821 rs1258539529	645	V>G		No	ClinGen TOPMed
rs746699823 CA3131062	645	V>M		No	ClinGen ExAC TOPMed gnomAD
CA109787684 rs376928237	647	Q>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA
CA358690847 rs1277845312	649	V>I		No	ClinGen gnomAD
CA358690853 rs1338467929	650	A>S		No	ClinGen gnomAD
rs781156138 CA3131064	650	A>V		No	ClinGen ExAC gnomAD
CA358690861 rs1259845407	651	P>Q		No	ClinGen gnomAD
CA358690866 rs1486817185	652	T>S		No	ClinGen TOPMed gnomAD
rs914764758 CA109787691	653	Q>P		No	ClinGen TOPMed gnomAD
rs1186525006 CA358690877	654	Y>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs748040477 CA3131065	656	I>T		No	ClinGen ExAC gnomAD
rs947562122 CA109787732	661	E>G		No	ClinGen TOPMed
rs1489371263 CA358690932	662	F>I		No	ClinGen gnomAD
TCGA novel	663	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1199661041 CA358690945	663	F>L		No	ClinGen gnomAD
rs773264792 CA3131067	664	E>G		No	ClinGen ExAC gnomAD
rs1262062203 CA358690949	664	E>K		No	ClinGen TOPMed gnomAD
CA358690959 rs1332888738 TCGA novel	665	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen TOPMed
rs776898261 CA3131093	674	D>N		No	ClinGen ExAC gnomAD
TCGA novel	675	Y>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs139737513 CA3131095	676	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA3131094 rs139737513	676	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs868114468 CA109791154	677	E>*		No	ClinGen gnomAD
CA358691975 rs1234703820	677	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA3131096 rs116625723	680	S>N		No	ClinGen 1000Genomes ExAC
rs763537316 CA3131097	682	L>F		No	ClinGen ExAC gnomAD
CA3131098 rs763537316	682	L>I		No	ClinGen ExAC gnomAD
CA358692039 rs1445955760	682	L>P		No	ClinGen gnomAD
CA358692080 rs1300963108	685	E>V		No	ClinGen gnomAD
rs527269110 CA109791166	686	S>A		No	ClinGen 1000Genomes
rs767262023 COSM1428417 CA3131101	688	L>P	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
VAR_036142	688	L>V	a breast cancer sample; somatic mutation [UniProt]	No	UniProt
rs1433564427 CA358692135	689	H>Q		No	ClinGen gnomAD
rs1241827441 CA358692130	689	H>R		No	ClinGen TOPMed gnomAD
TCGA novel	690	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1284559551 CA358692148	691	K>Q		No	ClinGen gnomAD
rs374208896 CA3131102	691	K>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1560847934 CA358692175	692	F>S		No	ClinGen Ensembl
CA109791182 rs200670221	694	G>D		No	ClinGen TOPMed gnomAD
CA3131107 rs150316679	695	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs150316679 CA3131106	695	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1466852821 CA358692236	697	V>L		No	ClinGen TOPMed
CA358692270 rs1441976412	699	E>D		No	ClinGen gnomAD
rs747080284 CA3131108	702	T>A		No	ClinGen ExAC gnomAD
rs1424754856 CA358692312	703	S>T		No	ClinGen gnomAD
rs867021804 CA109791204	703	S>Y		No	ClinGen Ensembl
rs768774981 CA3131109	706	N>S		No	ClinGen ExAC gnomAD
CA3131111 rs748435511	707	N>S		No	ClinGen ExAC gnomAD
rs1168950763 CA358692380	708	M>T		No	ClinGen TOPMed
rs549848935 CA3131113	709	R>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs549848935 CA3131112	709	R>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA3131114 rs763301088	710	I>T		No	ClinGen ExAC gnomAD
rs1026895131 CA109791224	713	K>E		No	ClinGen TOPMed
CA109791225 rs978461024	713	K>R		No	ClinGen TOPMed gnomAD
CA358692503 rs1217181817	716	N>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA358692513 rs1280108329	717	T>A		No	ClinGen gnomAD
rs1200876491 CA358692543	719	S>F		No	ClinGen TOPMed
TCGA novel	720	K>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	720	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3131118 rs759093418	721	K>N		No	ClinGen ExAC gnomAD
rs985143403 CA109791238	722	G>D		No	ClinGen TOPMed
rs539271132 CA109791241	724	K>N		No	ClinGen 1000Genomes
CA358692640 rs1560848117	726	H>R		No	ClinGen Ensembl
CA358692663 rs1459335572	728	F>L		No	ClinGen gnomAD
TCGA novel	728	F>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA358693814 COSM175527 rs1284168551	730	D>E	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1230400211 TCGA novel CA358693830	732	D>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen gnomAD NCI-TCGA
TCGA novel	732	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1463464627 CA358693869	736	K>E		No	ClinGen gnomAD
rs1214789233 CA358693889	737	D>Y		No	ClinGen gnomAD
rs757651963 CA3131150	739	G>A		No	ClinGen ExAC gnomAD
TCGA novel	740	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA358693984 rs1165249462	744	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA358694001 rs1385706994	745	C>R		No	ClinGen gnomAD
rs772706219 CA3131153	746	V>F		No	ClinGen ExAC TOPMed gnomAD
CA358694016 rs772706219	746	V>I		No	ClinGen ExAC TOPMed gnomAD
CA3131155 rs746510010 COSM1428418	748	T>M	Variant assessed as Somatic; 0.0 impact. large_intestine haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1560854363 CA358694061	749	M>I		No	ClinGen Ensembl
CA3131158 rs761476585	749	M>T		No	ClinGen ExAC gnomAD
rs772877785 CA109796850	749	M>V		No	ClinGen TOPMed gnomAD
CA109796851 rs949366297	750	G>W		No	ClinGen TOPMed
rs897492381 CA109796860	753	M>K		No	ClinGen TOPMed
CA3131159 rs769521268	753	M>V		No	ClinGen ExAC gnomAD
rs570409741 CA358694151	755	Q>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA358694162 rs1247349580	756	C>S		No	ClinGen TOPMed
rs376797148 COSM586469 CA3131161	757	R>C	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
COSM3783794 CA3131162 rs114965343	757	R>H	Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	757	R>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1262744473 CA358694184	758	N>H		No	ClinGen gnomAD
CA3131163 rs751499187	758	N>S		No	ClinGen ExAC gnomAD
rs1199958558 CA358694197	759	G>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs868552768 CA109796878	759	G>R		No	ClinGen Ensembl
TCGA novel	760	F>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1440629217 CA358694215	761	V>L		No	ClinGen TOPMed gnomAD
CA358694216 rs1440629217	761	V>M		No	ClinGen TOPMed gnomAD
CA358694239 rs1267242962	763	H>R		No	ClinGen gnomAD
CA358694279 rs1243506524	766	K>T		No	ClinGen gnomAD
CA358694299 rs1560854459	768	D>A		No	ClinGen Ensembl
rs1560854468 CA358694301	768	D>E		No	ClinGen Ensembl
CA109796899 rs906266131	771	E>D		No	ClinGen TOPMed
TCGA novel	772	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3131186 rs774660001	774	C>Y		No	ClinGen ExAC gnomAD
CA109798705 rs1048029697	778	I>M		No	ClinGen Ensembl
CA358694589 rs1299517334	779	H>P		No	ClinGen TOPMed gnomAD
CA358694590 rs1299517334	779	H>R		No	ClinGen TOPMed gnomAD
rs750718239 CA3131187	780	S>G		No	ClinGen ExAC gnomAD
rs1224230008 CA358694607	782	S>C		No	ClinGen TOPMed gnomAD
CA3131188 rs758796276	782	S>T		No	ClinGen ExAC gnomAD
CA358694617 rs1248686308	783	G>D		No	ClinGen TOPMed
CA358694614 rs1202423339	783	G>S		No	ClinGen gnomAD
CA3131190 rs369207097	787	S>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs755446895 CA3131191	787	S>N		No	ClinGen ExAC TOPMed gnomAD
CA358694640 rs369207097	787	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs755446895 CA358694641	787	S>T		No	ClinGen ExAC TOPMed gnomAD
rs781755818 CA3131192	788	P>A		No	ClinGen ExAC gnomAD
rs781755818 CA358694646	788	P>S		No	ClinGen ExAC gnomAD
rs769343072 CA3131194	789	N>S		No	ClinGen ExAC gnomAD
CA3131193 rs374012699	789	N>Y		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	790	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel rs775001619 CA109798762	790	W>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen Ensembl
rs1387982046 CA358694673	792	D>G		No	ClinGen gnomAD
CA358694672 rs1477122976	792	D>Y		No	ClinGen gnomAD
rs1173225249 CA358694696	795	P>T		No	ClinGen gnomAD
rs1404300474 CA358694721	798	K>N		No	ClinGen TOPMed gnomAD
rs530187422 CA3131196 COSM1052990	800	C>*	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs777372617 CA3131195	800	C>G		No	ClinGen ExAC gnomAD
COSM1695221 CA3131198 rs150952504	803	E>K	Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs771893166 CA3131200	806	A>T		No	ClinGen ExAC TOPMed gnomAD
rs761957201 CA3131202	807	T>I		No	ClinGen ExAC gnomAD
rs1307808216 CA358694792	809	G>S		No	ClinGen gnomAD
CA358694805 rs773518843	811	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs763099814 COSM285746 CA3131205	811	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs200520442 CA3131206	813	K>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA358694818 rs1222849209	813	K>R		No	ClinGen gnomAD
CA109798862 rs878871850	814	L>*		No	ClinGen Ensembl
TCGA novel	815	A>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs200047769 CA3131237	815	A>D		No	ClinGen ExAC TOPMed gnomAD
rs200047769 CA358695195	815	A>G		No	ClinGen ExAC TOPMed gnomAD
CA358695192 rs1245320308	815	A>T		No	ClinGen gnomAD
rs200047769 CA3131236	815	A>V		No	ClinGen ExAC TOPMed gnomAD
CA3131238 rs145928270	817	S>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA358695239 rs1294803106	821	I>T		No	ClinGen TOPMed
CA109808577 rs1053831469	824	H>R		No	ClinGen Ensembl
CA358695269 rs1427030655	825	Q>L		No	ClinGen TOPMed
rs373369554 CA3131241	828	A>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs1465467925 CA358695293	828	A>V		No	ClinGen gnomAD
CA3131242 rs753280483	829	Y>S		No	ClinGen ExAC TOPMed gnomAD
rs147825878 CA3131243	831	H>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1453135032 CA358695314	831	H>Q		No	ClinGen gnomAD
rs147825878 COSM1328613 CA3131244	831	H>R	ovary [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA358695337 rs1308007131	835	F>L		No	ClinGen gnomAD
CA358695339 rs1451278389	835	F>S		No	ClinGen TOPMed
CA3131245 rs377556165	838	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs1225173492 CA358695362	838	E>V		No	ClinGen gnomAD
CA109808647 rs1033079220	839	T>A		No	ClinGen TOPMed gnomAD
CA3131246 rs758079962	839	T>I		No	ClinGen ExAC TOPMed gnomAD
CA358695369 rs1202286528	840	E>K		No	ClinGen gnomAD
CA358695396 rs1285212694	843	P>L		No	ClinGen TOPMed
CA358695414 rs1461998105	846	G>A		No	ClinGen TOPMed gnomAD
TCGA novel	846	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs780008772 CA3131247	847	R>*		No	ClinGen ExAC TOPMed gnomAD
CA109808667 rs867864770	847	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA3131249 rs768711270	849	C>R		No	ClinGen ExAC gnomAD
rs1479515733 CA358695442	851	N>K		No	ClinGen gnomAD
rs781335769 CA3131250	851	N>Y		No	ClinGen ExAC TOPMed gnomAD
CA3131251 rs749303448	853	I>L		No	ClinGen ExAC gnomAD
CA358695471 rs774395898	855	D>A		No	ClinGen ExAC gnomAD
rs774395898 CA3131253	855	D>V		No	ClinGen ExAC gnomAD
CA3131255 rs772360757	862	N>S		No	ClinGen ExAC gnomAD
CA358695562 rs1397577416	863	K>E		No	ClinGen TOPMed
rs1443880559 CA358695583	864	M>I		No	ClinGen gnomAD
rs775833668 CA3131256	864	M>V		No	ClinGen ExAC gnomAD
rs761091204 CA3131257	865	F>Y		No	ClinGen ExAC gnomAD
rs764566213 CA3131258	866	V>A		No	ClinGen ExAC TOPMed gnomAD
CA3131259 rs749812318	867	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs760021584 CA109808730	867	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs761192419 CA3131260	869	V>A		No	ClinGen ExAC TOPMed gnomAD
CA358695693 rs1375654107	874	V>I		No	ClinGen gnomAD
rs1246372772 CA358695704	875	Q>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	876	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1477785575 CA358695734	877	K>E		No	ClinGen TOPMed
TCGA novel	878	G>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA358695750 rs764829482	878	G>D		No	ClinGen ExAC TOPMed gnomAD
rs764829482 CA3131261	878	G>V		No	ClinGen ExAC TOPMed gnomAD
CA3131263 rs758128395	880	Q>K		No	ClinGen ExAC gnomAD
CA3131264 rs779921094	881	A>G		No	ClinGen ExAC gnomAD
rs754868186 CA3131266	882	T>A		No	ClinGen ExAC gnomAD
CA358695808 rs1364575848	883	H>P		No	ClinGen gnomAD
rs370111962 CA3131268	883	H>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA109808825 rs1005207244	883	H>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs770866938 CA3131269	885	T>A		No	ClinGen ExAC gnomAD
CA358681845 rs1448647128	886	E>D		No	ClinGen gnomAD
CA3131288 rs756078441	886	E>G		No	ClinGen ExAC gnomAD
rs550988599 CA358681858	888	G>A		No	ClinGen 1000Genomes ExAC gnomAD
rs550988599 CA3131289	888	G>D		No	ClinGen 1000Genomes ExAC gnomAD
CA358681862 rs780213528	889	G>A		No	ClinGen ExAC gnomAD
rs780213528 CA3131292	889	G>E		No	ClinGen ExAC gnomAD
CA3131291 CA358681861 rs376169735	889	G>R	Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs1385488840 CA358681865	890	R>*		No	ClinGen TOPMed gnomAD
CA109780795 rs1003510527 COSM1052993	890	R>Q	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs1336682876 CA358681885	893	A>S		No	ClinGen gnomAD
rs747258278 CA3131293	893	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs753746634 CA109780815	898	R>G		No	ClinGen Ensembl
rs768955072 CA3131294	898	R>T		No	ClinGen ExAC gnomAD
CA3131295 rs143252086	899	D>E		No	ClinGen ESP ExAC
CA358681950 rs1335393263	899	D>G		No	ClinGen TOPMed gnomAD
rs1560871430 CA358681945	899	D>H		No	ClinGen Ensembl
rs770322001 CA3131297	901	Y>H		No	ClinGen ExAC gnomAD
CA109780847 rs1035714612	903	H>Q		No	ClinGen TOPMed
CA358681998 rs1379003091	903	H>Y		No	ClinGen TOPMed
rs754819234 CA109780859	904	A>V		No	ClinGen TOPMed gnomAD
rs1447186882 CA358682032	905	Q>H		No	ClinGen gnomAD
CA3131299 rs762519293	907	G>D		No	ClinGen ExAC gnomAD
rs1459768758 CA358682052	908	D>N		No	ClinGen gnomAD
CA358682094 rs1243602463	909	N>K		No	ClinGen gnomAD
rs766016252 CA3131300	909	N>S		No	ClinGen ExAC gnomAD
COSM1720699 rs766016252 CA3131301	909	N>T	NS [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA358682118 rs1418139177	911	Y>H		No	ClinGen gnomAD
rs759274688 CA109780887	912	P>A		No	ClinGen ExAC TOPMed gnomAD
CA3131303 rs767146523	912	P>L		No	ClinGen ExAC gnomAD
rs767146523 CA358682134	912	P>R		No	ClinGen ExAC gnomAD
rs759274688 CA3131302	912	P>T		No	ClinGen ExAC TOPMed gnomAD
CA3131304 rs752528838	913	G>E		No	ClinGen ExAC gnomAD
rs77457105 CA3131305	914	Q>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3131306 rs778787261	915	V>A		No	ClinGen ExAC TOPMed gnomAD
rs758426774 CA3131308	922	V>A		No	ClinGen ExAC TOPMed gnomAD
rs374471706 CA3131310	925	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs780124425 CA3131309	925	R>W		No	ClinGen ExAC TOPMed gnomAD
CA109780926 rs865776958	926	G>D		No	ClinGen Ensembl
rs755225205 CA3131311	927	S>P		No	ClinGen ExAC gnomAD
CA3131312 rs569659122	928	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA358682358 rs116616112	928	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3131313 rs116616112	928	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA358682363 rs1344528420	929	L>F		No	ClinGen Ensembl
CA358682399 rs1340969985	932	S>A		No	ClinGen TOPMed
rs770094214 CA3131314	934	Q>P		No	ClinGen ExAC gnomAD
CA3131315 rs773814777	935	T>A		No	ClinGen ExAC TOPMed gnomAD
CA358682461 rs1382741811	935	T>I		No	ClinGen gnomAD
rs749835123 CA3131316	936	F>L		No	ClinGen ExAC gnomAD
CA109780973 rs1027019655	937	E>G		No	ClinGen TOPMed gnomAD
TCGA novel	937	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3131319 rs759181265	940	E>V		No	ClinGen ExAC gnomAD
CA358682592 rs1322409357	942	A>V		No	ClinGen TOPMed gnomAD
CA3131321 rs566963299	944	C>R		No	ClinGen 1000Genomes ExAC gnomAD
CA358682636 rs1375400412	945	G>R		No	ClinGen TOPMed
TCGA novel	945	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs763821227 CA3131323	946	Y>H		No	ClinGen ExAC TOPMed gnomAD
CA3131324 rs753720943	948	Y>C		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	949	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs746747914 CA109781050	949	V>M		No	ClinGen Ensembl
CA3131326 rs765225636	950	E>K		No	ClinGen ExAC gnomAD
CA358682753 rs534469812	951	L>F		No	ClinGen 1000Genomes gnomAD
CA109781057 rs534469812	951	L>I		No	ClinGen 1000Genomes gnomAD
rs1057524197 RCV000432395 CA16604718	954	G>D		No	ClinGen ClinVar Ensembl dbSNP
CA358682838 rs1404642715	955	L>F		No	ClinGen gnomAD
CA3131329 rs2291822 VAR_051585	958	T>A		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA358682914 rs1225237646	958	T>I		No	ClinGen gnomAD
rs2291822 CA358682905	958	T>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs114788264 CA3131330	959	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs371256194 CA3131331	961	G>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs778294639 CA3131332	962	L>F		No	ClinGen ExAC TOPMed gnomAD
rs778294639 CA358682963	962	L>V		No	ClinGen ExAC TOPMed gnomAD
rs541756882 CA358682984	964	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs541756882 CA3131333 COSM3825501	964	R>G	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs771556792 CA3131334	964	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1490705887 CA358683003	965	F>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1266108956 CA358683001	965	F>Y		No	ClinGen gnomAD
CA3131335 rs779617909	968	S>T		No	ClinGen ExAC gnomAD
rs146348594 CA3131337	969	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs768284143 CA3131362	970	P>L		No	ClinGen ExAC
rs544811803 CA3131363	971	P>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA358683219 rs1365597525	972	E>G		No	ClinGen gnomAD
rs1560872626 CA358683267	975	Y>F		No	ClinGen Ensembl
CA3131365 rs769610048	976	S>L		No	ClinGen ExAC gnomAD
CA358683285 rs1228590158	977	I>T		No	ClinGen gnomAD
CA358683300 rs1305650777	979	D>N		No	ClinGen gnomAD
TCGA novel	983	I>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs767566838 CA3131368	984	H>R		No	ClinGen ExAC TOPMed gnomAD
rs752714445 CA3131369	985	F>L		No	ClinGen ExAC gnomAD
CA358683447 rs578172463	988	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs764385232 CA3131371	990	T>A		No	ClinGen ExAC TOPMed gnomAD
CA3131372 rs754152564	990	T>I		No	ClinGen ExAC gnomAD
rs892340923 CA109781937	991	I>L		No	ClinGen TOPMed gnomAD
rs1420978646 CA358683561	992	N>S		No	ClinGen gnomAD
rs1389296302 CA358683591	993	K>N		No	ClinGen gnomAD
rs372509275 CA3131376	993	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs780707719 CA3131378	995	G>*		No	ClinGen ExAC
rs1469288100 CA358683658	995	G>E		No	ClinGen gnomAD
CA3131381 rs765711306	996	F>Y		No	ClinGen ExAC TOPMed gnomAD
CA3131382 rs750876785	997	H>L		No	ClinGen ExAC
rs1408093373 CA358683724	998	I>K		No	ClinGen gnomAD
CA109781988 rs946531483	999	R>I		No	ClinGen TOPMed
rs758827297 CA3131383	1000	Y>*		No	ClinGen ExAC gnomAD
CA109782008 rs900663473	1001	K>R		No	ClinGen gnomAD
rs780668653 CA3131384	1002	S>N		No	ClinGen ExAC gnomAD
CA3131385 rs746482717	1003	I>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1004	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs374474520 CA358683949	1005	Y>*		No	ClinGen TOPMed
CA358683946 rs1222273347	1005	Y>C		No	ClinGen TOPMed gnomAD
rs545718475 CA3131387	1005	Y>H		No	ClinGen 1000Genomes ExAC gnomAD
RCV001280575 CA109782033 rs996415364	1006	P>L		No	ClinGen ClinVar TOPMed dbSNP gnomAD
CA3131388 rs747818508	1008	T>I		No	ClinGen ExAC TOPMed gnomAD
CA109782036 rs747818508	1008	T>N		No	ClinGen ExAC TOPMed gnomAD
CA358684017 rs747818508	1008	T>S		No	ClinGen ExAC TOPMed gnomAD
CA3131390 rs375708013	1011	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs749170042 CA3131391	1012	K>Q		No	ClinGen ExAC gnomAD
TCGA novel	1014	K>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3131393 rs370111189	1014	K>Q		No	ClinGen ESP ExAC gnomAD

1 associated diseases with O43897

[MIM: 613087]: Atrial septal defect 6 (ASD6)

A congenital heart malformation characterized by incomplete closure of the wall between the atria resulting in blood flow from the left to the right atria. {ECO:0000269|PubMed:18830233}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

A congenital heart malformation characterized by incomplete closure of the wall between the atria resulting in blood flow from the left to the right atria. {ECO:0000269|PubMed:18830233}. Note=The disease is caused by variants affecting the gene represented in this entry.

16 regional properties for O43897

Type	Name	Position	InterPro Accession
ptm	EGF-type aspartate/asparagine hydroxylation site	590 - 601	IPR000152-1
ptm	EGF-type aspartate/asparagine hydroxylation site	745 - 756	IPR000152-2
domain	EGF-like domain	577 - 615	IPR000742-1
domain	EGF-like domain	730 - 770	IPR000742-2
domain	CUB domain	349 - 461	IPR000859-1
domain	CUB domain	462 - 574	IPR000859-2
domain	CUB domain	618 - 730	IPR000859-3
domain	CUB domain	774 - 886	IPR000859-4
domain	CUB domain	887 - 1003	IPR000859-5
domain	Peptidase M12A	148 - 347	IPR001506
domain	EGF-like calcium-binding domain	574 - 615	IPR001881-1
domain	EGF-like calcium-binding domain	730 - 770	IPR001881-2
domain	Peptidase, metallopeptidase	153 - 295	IPR006026
conserved_site	EGF-like calcium-binding, conserved site	574 - 599	IPR018097-1
conserved_site	EGF-like calcium-binding, conserved site	730 - 754	IPR018097-2
domain	Tolloid/BMP1 peptidase domain	148 - 347	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.
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.
skeletal system development	The process whose specific outcome is the progression of the skeleton over time, from its formation to the mature structure. The skeleton is the bony framework of the body in vertebrates (endoskeleton) or the hard outer envelope of insects (exoskeleton or dermoskeleton).

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
Q9Y6L7	TLL2	Tolloid-like protein 2	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
P98063	Bmp1	Bone morphogenetic protein 1	Mus musculus (Mouse)	PR
Q9WVM6	Tll2	Tolloid-like protein 2	Mus musculus (Mouse)	PR
Q62381	Tll1	Tolloid-like protein 1	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
MGLGTLSPRM	LVWLVASGIV	FYGELWVCAG	LDYDYTFDGN	EEDKTETIDY	KDPCKAAVFW
70	80	90	100	110	120
GDIALDDEDL	NIFQIDRTID	LTQNPFGNLG	HTTGGLGDHA	MSKKRGALYQ	LIDRIRRIGF
130	140	150	160	170	180
GLEQNNTVKG	KVPLQFSGQN	EKNRVPRAAT	SRTERIWPGG	VIPYVIGGNF	TGSQRAMFKQ
190	200	210	220	230	240
AMRHWEKHTC	VTFIERSDEE	SYIVFTYRPC	GCCSYVGRRG	NGPQAISIGK	NCDKFGIVVH
250	260	270	280	290	300
ELGHVIGFWH	EHTRPDRDNH	VTIIRENIQP	GQEYNFLKME	PGEVNSLGER	YDFDSIMHYA
310	320	330	340	350	360
RNTFSRGMFL	DTILPSRDDN	GIRPAIGQRT	RLSKGDIAQA	RKLYRCPACG	ETLQESNGNL
370	380	390	400	410	420
SSPGFPNGYP	SYTHCIWRVS	VTPGEKIVLN	FTTMDLYKSS	LCWYDYIEVR	DGYWRKSPLL
430	440	450	460	470	480
GRFCGDKLPE	VLTSTDSRMW	IEFRSSSNWV	GKGFAAVYEA	ICGGEIRKNE	GQIQSPNYPD
490	500	510	520	530	540
DYRPMKECVW	KITVSESYHV	GLTFQSFEIE	RHDNCAYDYL	EVRDGTSENS	PLIGRFCGYD
550	560	570	580	590	600
KPEDIRSTSN	TLWMKFVSDG	TVNKAGFAAN	FFKEEDECAK	PDRGGCEQRC	LNTLGSYQCA
610	620	630	640	650	660
CEPGYELGPD	RRSCEAACGG	LLTKLNGTIT	TPGWPKEYPP	NKNCVWQVVA	PTQYRISVKF
670	680	690	700	710	720
EFFELEGNEV	CKYDYVEIWS	GLSSESKLHG	KFCGAEVPEV	ITSQFNNMRI	EFKSDNTVSK
730	740	750	760	770	780
KGFKAHFFSD	KDECSKDNGG	CQHECVNTMG	SYMCQCRNGF	VLHDNKHDCK	EAECEQKIHS
790	800	810	820	830	840
PSGLITSPNW	PDKYPSRKEC	TWEISATPGH	RIKLAFSEFE	IEQHQECAYD	HLEVFDGETE
850	860	870	880	890	900
KSPILGRLCG	NKIPDPLVAT	GNKMFVRFVS	DASVQRKGFQ	ATHSTECGGR	LKAESKPRDL
910	920	930	940	950	960
YSHAQFGDNN	YPGQVDCEWL	LVSERGSRLE	LSFQTFEVEE	EADCGYDYVE	LFDGLDSTAV
970	980	990	1000	1010
GLGRFCGSGP	PEEIYSIGDS	VLIHFHTDDT	INKKGFHIRY	KSIRYPDTTH	TKK