AiPD: Autoinhibited Protein Database

Q76M96

Gene name	CCDC80 (DRO1, URB, HBE245)
Protein name	Coiled-coil domain-containing protein 80
Names	Down-regulated by oncogenes protein 1, Up-regulated in BRS-3 deficient mouse homolog
Species	Homo sapiens (Human)
KEGG Pathway	hsa:151887
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

271-394 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

271-394 (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 Q76M96

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q76M96-F1	Predicted				AlphaFoldDB

835 variants for Q76M96

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA2540871 CA353740663 rs758834358	6	G>R		No	ClinGen ExAC gnomAD
CA2540869 rs552577788	11	M>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2540870 rs199657380	11	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	13	L>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	14	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA353740462 rs1465508116	15	M>I		No	ClinGen gnomAD
rs1370844496 CA353740474	15	M>V		No	ClinGen TOPMed
CA353740413 rs1242826018	18	V>M		No	ClinGen gnomAD
rs753980077 CA2540867	20	G>E		No	ClinGen ExAC TOPMed gnomAD
CA80562004 rs939232650	20	G>R		No	ClinGen TOPMed
rs1279896418 CA353740336	21	S>*		No	ClinGen gnomAD
rs200504613 CA2540865 CA353740306	22	E>D		No	ClinGen 1000Genomes ExAC
rs563853212 CA80561973	23	P>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2540864 rs563853212	23	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs563853212 CA2540863	23	P>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1576799087 CA353740279	24	H>P		No	ClinGen Ensembl
rs1361346339 CA353740272	24	H>Q		No	ClinGen TOPMed
CA2540862 rs762980899	25	P>R		No	ClinGen ExAC gnomAD
TCGA novel	26	H>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2540861 rs775628355	28	T>A		No	ClinGen ExAC gnomAD
rs1281198822 CA353740210	29	I>T		No	ClinGen TOPMed gnomAD
CA80561948 rs989876435	29	I>V		No	ClinGen Ensembl
CA353740190 rs1316585285	31	G>S		No	ClinGen TOPMed
CA2540860 rs75074453	32	S>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs745635532 CA2540859	33	H>Y		No	ClinGen ExAC gnomAD
CA2540857 rs770558801	34	G>E		No	ClinGen ExAC gnomAD
rs1445116241 CA353740143	34	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs374284613 CA2540856	35	G>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA80561939 rs113748472	35	G>R		No	ClinGen Ensembl
rs1388319525 COSM243536 CA353740111	36	R>Q	Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA80561914 rs868832549	36	R>W		No	ClinGen TOPMed
CA2540854 rs777258185	37	K>T		No	ClinGen ExAC gnomAD
rs201399279 CA2540852	39	P>L		No	ClinGen 1000Genomes ExAC gnomAD
CA2540853 rs757958238	39	P>S		No	ClinGen ExAC gnomAD
CA2540851 rs779433211	41	V>I		No	ClinGen ExAC gnomAD
CA2540850 rs755474141	43	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1484389164 CA353740022	43	P>S		No	ClinGen gnomAD
rs199780053 CA2540848	44	D>G		No	ClinGen 1000Genomes ExAC gnomAD
rs1559883600 CA353740005	45	S>G		No	ClinGen Ensembl
rs1559883596 CA353739976	49	A>T		No	ClinGen Ensembl
rs375544364 CA353739969	50	R>L		No	ClinGen ESP ExAC gnomAD
CA2540845 rs375544364	50	R>P		No	ClinGen ESP ExAC gnomAD
rs375544364 CA2540846	50	R>Q		No	ClinGen ESP ExAC gnomAD
rs1377747641 CA353739948	54	H>Y		No	ClinGen gnomAD
CA80561860 rs778208304	55	T>P		No	ClinGen Ensembl
rs774603934 CA2540843	55	T>S		No	ClinGen ExAC gnomAD
rs541711022 CA2540842	57	R>K		No	ClinGen 1000Genomes ExAC gnomAD
CA353739907 rs1443612944	58	S>Y		No	ClinGen TOPMed
CA80561846 rs185059081	59	R>G		No	ClinGen 1000Genomes
CA80561845 rs144892521	59	R>H		No	ClinGen ESP
rs1559883570 CA353739880	60	G>A		No	ClinGen Ensembl
TCGA novel	60	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	60	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs149889809 CA2540841	61	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA2540840 rs776417755	62	E>V		No	ClinGen ExAC gnomAD
CA80561833 rs998954337	64	S>P		No	ClinGen Ensembl
rs760359684 CA2540838	65	T>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs770695470 CA2540839	65	T>S		No	ClinGen ExAC gnomAD
CA353739807 rs1364711534	66	L>R		No	ClinGen gnomAD
CA2540837 rs772897199	66	L>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	68	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs771535104 CA2540836	69	P>S		No	ClinGen ExAC gnomAD
rs1576798884 CA353739751	70	N>T		No	ClinGen Ensembl
rs1414874009 CA353739717	72	Q>L		No	ClinGen gnomAD
rs1452867136 CA353739701	73	P>L		No	ClinGen TOPMed
CA2540834 rs778419881	76	R>G		No	ClinGen ExAC gnomAD
rs769151702 CA2540833	78	R>K		No	ClinGen ExAC gnomAD
COSM727218 CA353739620 rs139180030	79	S>I	lung [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA353739622 rs139180030	79	S>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2540832 rs139180030	79	S>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1336183002 CA353739538	85	L>P		No	ClinGen TOPMed
CA80561762 rs894616326	86	A>P		No	ClinGen Ensembl
CA2540828 rs781605714	87	R>C		No	ClinGen ExAC gnomAD
CA2540827 rs757576216	87	R>L		No	ClinGen ExAC TOPMed gnomAD
rs1289732401 CA353739504	88	P>S		No	ClinGen TOPMed gnomAD
rs764084881 CA2540825	89	T>A		No	ClinGen ExAC gnomAD
CA353739490 rs1316676991	89	T>R		No	ClinGen TOPMed
TCGA novel	90	E>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs753774790 CA2540823	90	E>D		No	ClinGen ExAC TOPMed gnomAD
CA353739488 rs1291561501	90	E>K		No	ClinGen gnomAD
TCGA novel	90	E>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1158697603 CA353739467	93	A>S		No	ClinGen gnomAD
rs773018733 CA2540820	93	A>V		No	ClinGen ExAC TOPMed gnomAD
rs771667652 CA2540819	94	R>C		No	ClinGen ExAC gnomAD
CA2540818 rs773846822	94	R>H		No	ClinGen ExAC gnomAD
CA2540817 rs773846822	94	R>L		No	ClinGen ExAC gnomAD
rs773846822 CA353739462	94	R>P		No	ClinGen ExAC gnomAD
rs370066309 CA2540815	95	S>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA353739458 rs370066309	95	S>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2540814 rs370066309	95	S>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1576798756 CA353739435	98	N>K		No	ClinGen Ensembl
CA353739438 rs1489013864	98	N>S		No	ClinGen gnomAD
CA2540813 rs770164580	100	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1207689234 CA353739421	101	A>S		No	ClinGen gnomAD
rs1326686812 CA353739418	101	A>V		No	ClinGen gnomAD
rs934004257 CA80561642	102	V>M		No	ClinGen TOPMed gnomAD
CA2540811 rs781700651	104	P>A		No	ClinGen ExAC gnomAD
rs1299115253 CA353739400	105	E>K		No	ClinGen gnomAD
rs1299115253 CA353739399	105	E>Q		No	ClinGen gnomAD
CA2540810 rs117007322	107	R>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA353739377 rs1466753111	108	P>A		No	ClinGen TOPMed
CA353739372 rs1177570059	109	A>T		No	ClinGen TOPMed gnomAD
rs1368063182 CA353739357	110	A>P		No	ClinGen gnomAD
CA353739355 rs1368063182	110	A>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs923181674 CA80561639	111	R>G		No	ClinGen gnomAD
rs1467297601 CA353739327	112	G>S		No	ClinGen TOPMed
CA2540809 rs751896135	113	S>F		No	ClinGen ExAC TOPMed gnomAD
rs758454405 CA2540807	114	P>L		No	ClinGen ExAC gnomAD
CA353739284 rs1434302811	115	R>L		No	ClinGen gnomAD
CA353739292 rs1178909298	115	R>S		No	ClinGen gnomAD
rs760631423 CA2540804	117	M>I		No	ClinGen ExAC TOPMed gnomAD
rs750165764 CA2540803	118	I>M		No	ClinGen ExAC gnomAD
CA353739239 rs1249524540	118	I>N		No	ClinGen TOPMed gnomAD
rs767306537 CA2540802	119	R>T		No	ClinGen ExAC TOPMed gnomAD
rs1238885252 CA353739210	120	D>G		No	ClinGen TOPMed gnomAD
rs371697196 CA2540801	120	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA2540800 rs367554566	121	E>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA2540799 rs763639505	122	G>E		No	ClinGen ExAC gnomAD
rs762410522 CA2540798	125	A>P		No	ClinGen ExAC gnomAD
rs975962710 CA80561587	126	R>Q		No	ClinGen Ensembl
rs1367546023 CA353739121	127	S>*		No	ClinGen gnomAD
CA2540797 rs775097564	128	R>G		No	ClinGen ExAC TOPMed gnomAD
CA353739100 rs1395485665	129	M>L		No	ClinGen gnomAD
CA353739062 rs1400184415	131	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs770365462 CA2540796	134	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA353739015 rs1373068645	135	G>R		No	ClinGen TOPMed gnomAD
rs140487450 CA80561546	137	S>G		No	ClinGen ESP TOPMed gnomAD
rs189157672 CA2540793	137	S>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA353738993 rs140487450	137	S>R		No	ClinGen ESP TOPMed gnomAD
CA353738973 rs1171509906	138	S>F		No	ClinGen TOPMed
rs146607512 CA2540792	140	N>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA353738948 rs1354408687	140	N>S		No	ClinGen TOPMed
CA353738935 rs1576798569	141	I>T		No	ClinGen Ensembl
CA80561543 rs143911216	141	I>V		No	ClinGen ESP TOPMed
rs1238106346 CA353738924	142	L>F		No	ClinGen gnomAD
rs758674045 CA2540789	143	A>T		No	ClinGen ExAC gnomAD
rs138430097 CA2540788	143	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2540787 rs779066673	144	S>C		No	ClinGen ExAC gnomAD
rs1303698345 CA353738873	146	A>S		No	ClinGen TOPMed gnomAD
CA2540786 rs755983927	149	N>S		No	ClinGen ExAC gnomAD
rs1244294992 CA353738822	151	V>A		No	ClinGen gnomAD
rs1298546042 CA353738826	151	V>I		No	ClinGen gnomAD
rs1559883348 CA353738811	153	V>I		No	ClinGen Ensembl
rs1332641212 CA353738805	154	I>V		No	ClinGen Ensembl
CA353738791 rs1396692791	156	A>T		No	ClinGen gnomAD
CA80561510 rs368965272	156	A>V		No	ClinGen ESP TOPMed gnomAD
CA2540784 rs569959733	158	H>N		No	ClinGen 1000Genomes ExAC gnomAD
rs1371538204 CA353738763	160	S>L		No	ClinGen gnomAD
CA353738744 rs1366409920	163	Y>C		No	ClinGen TOPMed gnomAD
CA353738745 rs1366409920	163	Y>S		No	ClinGen TOPMed gnomAD
rs1423892182 CA353738734	164	Y>*		No	ClinGen gnomAD
rs149351271 CA2540781	165	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA353738731 rs149351271	165	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA2540780 rs762679378	165	R>H		No	ClinGen ExAC gnomAD
rs1221511113 CA353738715	167	M>I		No	ClinGen TOPMed
rs1484023419 CA353738689	171	L>Q		No	ClinGen gnomAD
rs774795718 CA2540779	172	K>E		No	ClinGen ExAC gnomAD
rs1209081864 CA353738673	173	D>E		No	ClinGen gnomAD
CA80561447 rs935039270	173	D>H		No	ClinGen TOPMed
CA80561431 rs191458711	174	D>N		No	ClinGen 1000Genomes gnomAD
rs530232893 CA2540777	175	V>A		No	ClinGen 1000Genomes ExAC gnomAD
rs530232893 CA2540778	175	V>E		No	ClinGen 1000Genomes ExAC gnomAD
rs777324358 CA2540776	176	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA353738633 rs1351714752	180	A>T		No	ClinGen gnomAD
CA353738628 rs1426875696	180	A>V		No	ClinGen TOPMed
rs1403964911 CA353738622	181	E>D		No	ClinGen gnomAD
rs747292036 CA2540774	181	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA80561373 rs150275337	184	I>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2540773 rs374211045	184	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	185	Q>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA80561366 rs911503525	189	L>P		No	ClinGen TOPMed gnomAD
CA2540771 rs748411097	192	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA353738543 rs755111430	193	A>P		No	ClinGen ExAC gnomAD
CA2540769 rs755111430	193	A>S		No	ClinGen ExAC gnomAD
rs755111430 CA2540770	193	A>T		No	ClinGen ExAC gnomAD
CA2540768 rs565610574	193	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
CA2540766 rs370290734	195	E>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA353738526 rs1449688239	196	E>K		No	ClinGen gnomAD
rs372675919 CA2540764	197	G>E		No	ClinGen ExAC gnomAD
rs1013085150 CA80561344	198	G>S		No	ClinGen Ensembl
CA2540763 rs376248786	198	G>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA353738499 rs1576798370	200	V>G		No	ClinGen Ensembl
rs563161866 CA2540761	200	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2540760 rs563161866	200	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1330351683 CA353738491	202	R>G		No	ClinGen gnomAD
TCGA novel	202	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA80561333 rs952894483	203	I>F		No	ClinGen TOPMed
rs759154848 CA2540759	204	T>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA353738470 COSM201582 rs1216753978	205	S>N	large_intestine Variant assessed as Somatic; impact. urinary_tract [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs753428476 CA2540758	205	S>R		No	ClinGen ExAC gnomAD
CA2540757 rs766939184	206	E>K		No	ClinGen ExAC TOPMed gnomAD
CA353738393 rs1576798341	210	L>R		No	ClinGen Ensembl
rs1484917443 CA353738378	211	E>D		No	ClinGen TOPMed
rs772559384 CA2540754	213	P>L		No	ClinGen ExAC TOPMed gnomAD
CA353738316 rs1219377147	215	D>A		No	ClinGen gnomAD
CA353738314 rs1219377147	215	D>G		No	ClinGen gnomAD
CA353738323 rs1156248098 COSM1670433	215	D>N	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
rs192643644 CA2540752	216	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA353738219 rs1477030129	221	K>E		No	ClinGen gnomAD
rs759830123 CA80561270	222	L>R		No	ClinGen Ensembl
rs138399608 CA2540750	223	M>T		No	ClinGen ESP ExAC TOPMed
CA353738142 rs1248214691	225	F>V		No	ClinGen gnomAD
CA2540746 rs777414688	229	E>G		No	ClinGen ExAC gnomAD
rs200427875 CA2540744	231	G>D		No	ClinGen 1000Genomes ExAC gnomAD
rs754696308 CA2540742	232	K>N		No	ClinGen ExAC gnomAD
rs1559883196 CA353737978	233	F>S		No	ClinGen Ensembl
rs1285987208 CA353737959	234	G>D		No	ClinGen TOPMed gnomAD
rs1559883187 CA353737944	236	V>L		No	ClinGen Ensembl
rs1318164021 CA353737928	239	K>*		No	ClinGen TOPMed gnomAD
CA2540740 rs145846643	241	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA353737892 rs1576798236	244	V>G		No	ClinGen Ensembl
rs534554925 CA80561196	244	V>M		No	ClinGen 1000Genomes
rs1576798226 CA353737887	245	E>G		No	ClinGen Ensembl
CA353737879 rs1559883175	246	E>A		No	ClinGen Ensembl
CA2540738 rs750998985	247	R>C		No	ClinGen ExAC TOPMed gnomAD
rs767753684 CA2540737	247	R>H		No	ClinGen ExAC gnomAD
CA2540736 rs369161124	249	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA2540734 CA2540735 rs768817862	250	Y>*		No	ClinGen ExAC TOPMed gnomAD
rs775543007 CA2540732	252	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA353737823 rs1208191526	255	E>A		No	ClinGen gnomAD
rs1444577950 CA353737819	256	A>T		No	ClinGen gnomAD
rs1315373771 CA353737814	256	A>V		No	ClinGen TOPMed
rs1204835996 CA353737812	257	M>V		No	ClinGen gnomAD
rs201745151 CA80561108	259	E>K		No	ClinGen gnomAD
rs771930162 CA2540728	260	V>F		No	ClinGen ExAC TOPMed gnomAD
CA353737789 rs771930162	260	V>I		No	ClinGen ExAC TOPMed gnomAD
CA2540727 rs747899007	261	I>T		No	ClinGen ExAC gnomAD
rs778862464 CA2540726	262	D>E		No	ClinGen ExAC gnomAD
CA2540725 rs538560673	263	Q>R		No	ClinGen 1000Genomes ExAC gnomAD
rs1360763257 CA353737761	264	G>V		No	ClinGen gnomAD
CA2540724 rs753614708	265	P>A		No	ClinGen ExAC gnomAD
rs779260599 CA80561078	265	P>L		No	ClinGen TOPMed
CA353737755 rs779260599	265	P>R		No	ClinGen TOPMed
rs1366758977 CA353737751	266	I>N		No	ClinGen Ensembl
CA353737753 rs1378115189	266	I>V		No	ClinGen gnomAD
CA353737745 rs1177012762 COSM1036393	267	R>C	endometrium [Cosmic]	No	ClinGen cosmic curated TOPMed
CA2540722 rs755702357	267	R>H		No	ClinGen ExAC TOPMed gnomAD
rs755702357 CA353737744	267	R>P		No	ClinGen ExAC TOPMed gnomAD
CA353737732 rs1576798113	269	I>T		No	ClinGen Ensembl
rs563401702 CA80561070	269	I>V		No	ClinGen Ensembl
CA2540720 rs768029382	270	E>Q		No	ClinGen ExAC gnomAD
rs757727973 CA2540719	271	K>N		No	ClinGen ExAC gnomAD
rs764507397 CA353737686	275	K>N		No	ClinGen ExAC gnomAD
rs1054276088 CA80561020	276	G>C		No	ClinGen gnomAD
CA353737672 rs1379066247	276	G>D		No	ClinGen TOPMed
rs763147654 CA2540716	279	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA2540715 rs140896602	281	C>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs374944667 CA2540713	281	C>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA353737548 rs776591924	283	A>G		No	ClinGen ExAC gnomAD
CA2540712 rs776591924	283	A>V		No	ClinGen ExAC gnomAD
rs1409104061 CA353737531	284	S>C		No	ClinGen gnomAD
CA2540710 rs201782699	285	G>D		No	ClinGen 1000Genomes ExAC gnomAD
CA353737524 rs1309607778	285	G>S		No	ClinGen gnomAD
TCGA novel	286	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs71319330 CA80560951	287	E>K		No	ClinGen Ensembl
rs748931613 CA2540707	289	Q>*		No	ClinGen ExAC gnomAD
rs779800732 CA353737434	290	V>L		No	ClinGen ExAC TOPMed gnomAD
CA2540706 rs779800732	290	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1471886952 CA353737412	291	V>A		No	ClinGen TOPMed gnomAD
rs780582420 CA353737402	292	A>E		No	ClinGen ExAC TOPMed gnomAD
rs745335289 CA353737408	292	A>P		No	ClinGen ExAC gnomAD
CA353737405 rs745335289	292	A>S		No	ClinGen ExAC gnomAD
CA2540704 rs745335289	292	A>T		No	ClinGen ExAC gnomAD
CA2540703 COSM239202 rs780582420	292	A>V	Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1559883032 CA353737382	293	E>G		No	ClinGen Ensembl
CA2540697 rs201947818	297	G>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs201947818 CA353737278	297	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1201113715 CA353737258	298	G>R		No	ClinGen TOPMed
rs893650147 CA80560916	299	G>R		No	ClinGen TOPMed
CA2540695 rs759686402	300	G>A		No	ClinGen ExAC gnomAD
rs759686402 CA2540696	300	G>E		No	ClinGen ExAC gnomAD
CA2540694 rs776703387	301	A>E		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	301	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs991130798 CA80560884	302	G>R		No	ClinGen Ensembl
TCGA novel	304	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA353737149 rs1391708071	304	P>Q		No	ClinGen gnomAD
rs1173666475 CA353737123	305	S>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA80560874 rs200357382	306	L>P		No	ClinGen 1000Genomes
CA353737116 rs1366614307	306	L>V		No	ClinGen TOPMed gnomAD
CA2540692 rs202239232	307	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs200031042 CA2540691	308	S>G		No	ClinGen 1000Genomes ExAC gnomAD
rs150960729 CA2540689	309	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA2540690 rs150960729	309	E>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2540688 rs775171659	311	K>R		No	ClinGen ExAC TOPMed gnomAD
CA2540687 rs769429768	312	K>R		No	ClinGen ExAC TOPMed gnomAD
CA2540684 rs780750409	315	P>R		No	ClinGen ExAC gnomAD
rs377035874 CA2540683	316	R>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs372515724 CA2540682	317	R>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs1207508577 CA353736862	319	Q>E		No	ClinGen gnomAD
rs1463177528 CA353736824	321	P>S		No	ClinGen gnomAD
CA80560714 rs985710918	322	P>L		No	ClinGen TOPMed gnomAD
CA80560709 rs931526072	323	T>A		No	ClinGen TOPMed gnomAD
CA2540680 rs758924577	323	T>I		No	ClinGen ExAC TOPMed gnomAD
rs1236233361 CA353736786	324	R>K		No	ClinGen gnomAD
rs973336974 CA80560697	325	E>D		No	ClinGen TOPMed gnomAD
CA80560676 rs753370087	327	R>P		No	ClinGen TOPMed
rs753370087 CA80560691	327	R>Q		No	ClinGen TOPMed
rs755221051 CA2540677	328	V>G		No	ClinGen ExAC gnomAD
CA2540678 rs200258226	328	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2540676 rs754068529	329	K>N		No	ClinGen ExAC TOPMed gnomAD
rs1576797840 CA353736677	330	V>G		No	ClinGen Ensembl
CA353736630 rs1576797829	333	K>N		No	ClinGen Ensembl
rs1376493388 CA353736625	334	L>P		No	ClinGen gnomAD
rs750565244 CA2540673	336	A>S		No	ClinGen ExAC TOPMed gnomAD
rs750565244 CA2540674	336	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1266136733 CA353736613	337	T>P		No	ClinGen gnomAD
rs200883342 CA2540672	338	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA353736605 rs1403333221	338	A>V		No	ClinGen TOPMed
rs762997282 CA2540671	339	P>S		No	ClinGen ExAC gnomAD
CA2540669 rs148827317	340	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA2540670 rs775290336	340	A>P		No	ClinGen ExAC gnomAD
rs115738438 CA2540667	341	L>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2540666 rs770601039	343	Q>K		No	ClinGen ExAC gnomAD
CA353736529 rs1212707158	344	P>S		No	ClinGen gnomAD
rs952531073 CA353736485	347	T>A		No	ClinGen TOPMed gnomAD
rs772496790 CA2540663	347	T>N		No	ClinGen ExAC gnomAD
rs952531073 CA80560616	347	T>P		No	ClinGen TOPMed gnomAD
rs772496790 CA2540664	347	T>S		No	ClinGen ExAC gnomAD
rs1328490086 CA353736473	348	P>A		No	ClinGen gnomAD
CA80560607 rs748667777	348	P>L		No	ClinGen ExAC TOPMed gnomAD
rs748667777 CA2540662	348	P>R		No	ClinGen ExAC TOPMed gnomAD
CA80560606 rs144491948	349	R>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA2540661 rs144491948	349	R>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs188756449 CA2540659	350	A>T		No	ClinGen 1000Genomes ExAC gnomAD
rs1559882904 CA353736435	350	A>V		No	ClinGen Ensembl
rs1370305508 CA353736424	351	T>I		No	ClinGen gnomAD
rs756430467 CA2540657	351	T>P		No	ClinGen ExAC gnomAD
CA2540655 rs767709781	352	T>P		No	ClinGen ExAC gnomAD
rs1293568313 CA353736390	353	L>I		No	ClinGen gnomAD
CA353736340 rs1422755182	354	P>L		No	ClinGen gnomAD
rs1576797709 CA353736361	354	P>S		No	ClinGen Ensembl
CA2540653 rs762945574	355	P>L		No	ClinGen ExAC gnomAD
rs1240233414 CA353736336	355	P>S		No	ClinGen TOPMed
rs765048944 CA2540651	356	A>P		No	ClinGen ExAC gnomAD
rs765048944 CA353736326	356	A>T		No	ClinGen ExAC gnomAD
rs776432238 CA2540649	360	T>R		No	ClinGen ExAC TOPMed gnomAD
rs1384366053 CA353736231	361	V>L		No	ClinGen TOPMed
rs770508969 CA2540648	362	T>S		No	ClinGen ExAC gnomAD
rs140656564 CA2540647	362	T>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA353736203 rs1385992361	363	R>L		No	ClinGen TOPMed
TCGA novel	363	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2540646 rs147189952	363	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs991098243 CA353736185	365	T>A		No	ClinGen Ensembl
rs771624976 CA2540645	365	T>M		No	ClinGen ExAC TOPMed gnomAD
rs991098243 CA80560546	365	T>P		No	ClinGen Ensembl
CA80560529 rs943728535	366	S>F		No	ClinGen TOPMed
CA353736153 rs1412000335	367	R>G		No	ClinGen gnomAD
CA2540643 rs145244203	367	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA353736133 rs749570113	368	A>E		No	ClinGen ExAC TOPMed gnomAD
rs749570113 CA2540641	368	A>V		No	ClinGen ExAC TOPMed gnomAD
rs200657012 CA2540639	371	V>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	377	T>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs200809953 CA80560496	377	T>P		No	ClinGen TOPMed
rs757319140 CA2540636	382	P>L		No	ClinGen ExAC gnomAD
rs139212823 COSM298065 CA2540635	384	T>M	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs930949859 CA80560481	386	R>K		No	ClinGen TOPMed
CA353735783 rs1287031771	387	P>R		No	ClinGen gnomAD
CA353735790 rs1328997920	387	P>S		No	ClinGen gnomAD
CA2540632 rs753558563	389	T>S		No	ClinGen ExAC gnomAD
CA353735721 rs1323364468	390	P>L		No	ClinGen gnomAD
CA2540631 rs766224764	390	P>S		No	ClinGen ExAC TOPMed gnomAD
CA353735707 rs1408368011	391	S>L		No	ClinGen TOPMed
CA2540630 rs760304200	392	P>H		No	ClinGen ExAC TOPMed gnomAD
rs1391907159 CA353735673	394	H>Y		No	ClinGen gnomAD
CA2540627 rs761192166	397	P>L		No	ClinGen ExAC gnomAD
CA2540628 rs139281040	397	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs150857055 CA2540626	398	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs768990687 CA2540625	398	T>I		No	ClinGen ExAC TOPMed gnomAD
rs141396783 CA2540623	399	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA2540624 rs141396783	399	T>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs141396783 CA353735568	399	T>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs115461364 CA2540620	402	V>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2540621 rs115461364	402	V>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs770340974 CA2540622	402	V>M		No	ClinGen ExAC gnomAD
rs757520785 CA2540619	406	R>G		No	ClinGen ExAC gnomAD
rs747003660 CA353735394	407	R>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs747003660 CA2540618	407	R>T		No	ClinGen ExAC gnomAD
CA353735377 rs1266372333	408	P>T		No	ClinGen gnomAD
rs777909600 CA2540617	410	V>G		No	ClinGen ExAC gnomAD
CA353735333 rs1576797446	410	V>L		No	ClinGen Ensembl
TCGA novel	412	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs116334737 CA2540616	413	N>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs534306920 CA2540614	413	N>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs116334737 CA2540615	413	N>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA353735213 rs750253669	416	P>A		No	ClinGen ExAC TOPMed gnomAD
CA2540612 rs750253669	416	P>S		No	ClinGen ExAC TOPMed gnomAD
CA353735183 rs1482245362	417	P>S		No	ClinGen TOPMed
rs1368252825 CA353735177	418	S>T		No	ClinGen gnomAD
rs371496097 CA2540609	419	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs372294401 CA2540610	419	R>W		No	ClinGen ExAC TOPMed gnomAD
rs763727517 CA2540608	420	K>E		No	ClinGen ExAC gnomAD
rs1179890549 CA353735083	420	K>N		No	ClinGen TOPMed
CA353735081 rs376493692	421	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs376493692 CA2540607	421	D>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2540606 rs749986115	423	H>Q		No	ClinGen ExAC gnomAD
rs1480781703 CA353735015	424	R>K		No	ClinGen TOPMed
CA353734995 rs1171708386	425	E>K		No	ClinGen TOPMed gnomAD
rs746184884 CA2540604	426	R>K		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	428	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs777067306 CA2540603	430	T>I		No	ClinGen ExAC gnomAD
CA80560278 rs767411894	432	R>K		No	ClinGen Ensembl
CA353734830 rs1199519763	433	P>S		No	ClinGen gnomAD
rs770991717 CA2540602	436	A>G		No	ClinGen ExAC TOPMed gnomAD
CA353734780 COSM239201 rs1559882733	436	A>T	prostate [Cosmic]	No	ClinGen cosmic curated Ensembl
CA2540601 rs747318222	438	S>R		No	ClinGen ExAC gnomAD
CA353734740 rs1448024050	438	S>T		No	ClinGen gnomAD
CA2540599 rs777697705	441	S>R		No	ClinGen ExAC gnomAD
CA353734573 rs1396199807	443	T>I		No	ClinGen TOPMed
CA353734551 rs201190794	444	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA80560241 rs966948299	445	A>T		No	ClinGen TOPMed
TCGA novel	446	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs749189595 CA2540597	449	T>I		No	ClinGen ExAC gnomAD
CA353734413 rs1347036565	450	I>T		No	ClinGen TOPMed
rs569499375 CA2540595	455	T>I		No	ClinGen 1000Genomes ExAC gnomAD
rs569499375 CA2540596	455	T>K		No	ClinGen 1000Genomes ExAC gnomAD
rs750164014 CA2540594	456	R>K		No	ClinGen ExAC gnomAD
rs1326906924 CA353734221	457	A>S		No	ClinGen gnomAD
rs199850583 CA2540592	457	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs529604031 CA2540591	458	A>T		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	459	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2540589 rs762594374	459	G>V		No	ClinGen ExAC gnomAD
CA353734170 rs1429339223	460	P>S		No	ClinGen gnomAD
CA2540588 rs752276251	462	R>C		No	ClinGen ExAC TOPMed gnomAD
rs138501198 CA2540587	462	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA80560180 rs937115514	463	F>L		No	ClinGen Ensembl
rs776851723 CA353733997	464	R>P		No	ClinGen ExAC TOPMed gnomAD
rs776851723 CA2540585	464	R>Q		No	ClinGen ExAC TOPMed gnomAD
COSM727221 rs774394821 CA2540586	464	R>W	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
TCGA novel	466	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA353733926 rs771380755 COSM1036391	467	R>H	Variant assessed as Somatic; 0.0 impact. endometrium haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA2540584 rs771380755	467	R>L		No	ClinGen ExAC TOPMed gnomAD
rs772313881 CA2540581	468	M>I		No	ClinGen ExAC TOPMed gnomAD
CA2540582 rs773521549	468	M>R		No	ClinGen ExAC TOPMed gnomAD
CA353733813 rs1451824995	469	D>E		No	ClinGen Ensembl
CA353733869 rs1313856432	469	D>N		No	ClinGen TOPMed gnomAD
CA2540580 rs145745813	470	R>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA353733777 rs376265934	470	R>S		No	ClinGen ESP ExAC gnomAD
rs1306489932 CA353733807	470	R>W		No	ClinGen gnomAD
CA2540578 rs769656953	471	R>G		No	ClinGen ExAC TOPMed gnomAD
COSM243535 CA2540577 rs745884821	471	R>Q	prostate [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs769656953 CA353733771	471	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1576797203 CA353733721	472	E>G		No	ClinGen Ensembl
CA2540575 rs137969304	473	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
RCV000974008 rs116307644 CA2540576	473	H>Y		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs150318536 CA2540574	474	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs373216819 CA2540573	476	R>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs373216819 CA80560086	476	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs758136333 CA353733541	476	R>P		No	ClinGen ExAC TOPMed gnomAD
rs758136333 CA2540572	476	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs752186550 CA2540571	478	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA80560039 rs928811113	479	N>D		No	ClinGen TOPMed
CA353733350 rs1476439848	480	V>A		No	ClinGen gnomAD
CA353733320 rs1576797153	481	V>G		No	ClinGen Ensembl
rs1559882639 CA353733340	481	V>M		No	ClinGen Ensembl
rs760102914 CA2540569	484	P>L		No	ClinGen ExAC gnomAD
rs760102914 CA2540570	484	P>R		No	ClinGen ExAC gnomAD
TCGA novel	486	K>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2540568 rs754415158	486	K>R		No	ClinGen ExAC TOPMed gnomAD
rs140232948 CA2540567	487	P>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1206141546 CA353733044	490	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA353732900 rs1307786603	491	K>*		No	ClinGen gnomAD
CA80560013 rs1045851177	492	P>A		No	ClinGen TOPMed gnomAD
rs1221997971 CA353732766	494	K>I		No	ClinGen TOPMed
TCGA novel	495	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA353732621 rs1227503810	498	Q>H		No	ClinGen gnomAD
rs773474180 CA2540565	498	Q>K		No	ClinGen ExAC gnomAD
CA2540564 rs772227726	498	Q>R		No	ClinGen ExAC gnomAD
rs151141158 CA2540563	503	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs1349528630 CA353732411	505	E>D		No	ClinGen gnomAD
rs1399980243 CA353732397	506	Y>H		No	ClinGen gnomAD
rs1323895592 CA353732389	506	Y>S		No	ClinGen gnomAD
CA2540559 rs527428637	509	K>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2540560 rs371056820	509	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1417892893 CA353732283	510	Y>D		No	ClinGen gnomAD
rs1576797058 CA353732261	511	D>A		No	ClinGen Ensembl
rs1467947237 CA353732226	513	S>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs777714728 CA2540556	514	R>P		No	ClinGen ExAC gnomAD
CA2540557 rs777714728	514	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs770807716 CA2540558	514	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1576797040 CA353732211	515	P>S		No	ClinGen Ensembl
rs758118294 CA2540555	517	A>S		No	ClinGen ExAC gnomAD
CA353732151 rs1386239500	519	Q>E		No	ClinGen TOPMed
CA2540554 rs200296261	520	L>P		No	ClinGen 1000Genomes ExAC gnomAD
rs1424479235 CA353732110	521	E>A		No	ClinGen TOPMed
rs754571897 CA2540552	523	E>K		No	ClinGen ExAC gnomAD
rs1273324597 CA353730389	524	L>P		No	ClinGen gnomAD
rs1214948179 CA353730373	525	Q>H		No	ClinGen gnomAD
CA2540551 rs753317240	526	V>E		No	ClinGen ExAC TOPMed gnomAD
rs1559882560 CA353730340	528	N>D		No	ClinGen Ensembl
CA2540549 rs756595001	529	V>I		No	ClinGen ExAC TOPMed gnomAD
rs58031351 CA80559955	531	L>P		No	ClinGen Ensembl
CA80559948 rs58622942	532	K>*		No	ClinGen Ensembl
rs1301547661 CA353730276	532	K>T		No	ClinGen gnomAD
CA2540548 rs144252779	533	K>E		No	ClinGen ESP ExAC gnomAD
rs1414623331	534	A>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	534	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2540547 rs767940513	535	K>N		No	ClinGen ExAC gnomAD
rs958169301 CA80559942	536	E>D		No	ClinGen Ensembl
CA353730168 rs1320048578	536	E>Q		No	ClinGen gnomAD
rs762009043 CA353730074	539	K>N		No	ClinGen ExAC gnomAD
CA2540544 rs142225247	540	H>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA353729931 rs1576796942	544	E>K		No	ClinGen Ensembl
rs775443915 CA2540542	546	P>T		No	ClinGen ExAC TOPMed
rs1256443846 CA353729774	549	E>K		No	ClinGen gnomAD
rs1253078189	553	K>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA353729538 rs1216511327	556	N>S		No	ClinGen TOPMed
rs773123702 CA2540539	557	E>D		No	ClinGen ExAC gnomAD
rs145200206 COSM727225 CA2540536	559	A>S	lung [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs145200206 CA2540537 COSM1036389	559	A>T	endometrium [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs754607927 CA2540535	560	D>G		No	ClinGen ExAC TOPMed gnomAD
rs995218613 CA80559898	565	S>G		No	ClinGen TOPMed
CA80559892 rs1055570649	565	S>N		No	ClinGen TOPMed
rs1055570649 CA80559886	565	S>T		No	ClinGen TOPMed
CA353729172 rs1346847918	566	E>*		No	ClinGen gnomAD
CA353729011 rs1326511749	569	M>T		No	ClinGen gnomAD
rs1236760052 CA353729019	569	M>V		No	ClinGen gnomAD
rs148461149 CA2540533	570	K>R		No	ClinGen ESP ExAC gnomAD
rs1380610660 CA353728944	571	K>E		No	ClinGen gnomAD
rs767850556 CA2540529	573	E>Q		No	ClinGen ExAC gnomAD
rs145579533 CA2540528	576	S>N		No	ClinGen ESP ExAC gnomAD
CA353728750 rs1159465158	578	Q>K		No	ClinGen TOPMed
rs1175996036 CA353728719	579	E>G		No	ClinGen gnomAD
CA353728651 rs1395312293	581	E>D		No	ClinGen gnomAD
rs1036673507 CA80559825	582	K>Q		No	ClinGen TOPMed
CA2540527 rs771072496	583	S>N		No	ClinGen ExAC TOPMed gnomAD
CA353728588 rs1426242203	584	K>E		No	ClinGen gnomAD
rs775631710 CA2540524	587	K>N		No	ClinGen ExAC TOPMed gnomAD
CA353728421 rs1406763385	587	K>Q		No	ClinGen TOPMed
CA353728395 rs1282222192	588	G>R		No	ClinGen TOPMed
CA2540522 rs765287493 COSM77431	589	G>S	ovary [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1375349253 CA353728293	591	T>I		No	ClinGen TOPMed
CA353728288 rs1306624378	592	E>K		No	ClinGen TOPMed
CA353728280 rs1327122717	592	E>V		No	ClinGen TOPMed
CA80559749 rs773306455	593	Q>H		No	ClinGen Ensembl
CA2540519 rs773322395	594	D>G		No	ClinGen ExAC gnomAD
CA353728107 rs1309310673	596	Y>S		No	ClinGen gnomAD
rs1045946528 CA80559710	598	K>T		No	ClinGen TOPMed
CA353727975 rs1302726853	599	P>R		No	ClinGen gnomAD
CA80559704 rs748442609	599	P>S		No	ClinGen TOPMed gnomAD
rs1208375244 CA353727958	600	T>A		No	ClinGen TOPMed
rs772166004 CA2540518	600	T>S		No	ClinGen ExAC
CA2540515 rs534275331	601	N>K		No	ClinGen 1000Genomes ExAC gnomAD
CA353727855 rs1315094929	603	H>Q		No	ClinGen gnomAD
CA353727838 rs1481196627	604	F>S		No	ClinGen TOPMed
rs748961855 CA2540514	605	T>M		No	ClinGen ExAC TOPMed gnomAD
CA353727757 rs1166935778	606	Q>R		No	ClinGen gnomAD
CA80559643 rs746347134	608	P>A		No	ClinGen ExAC TOPMed gnomAD
CA2540512 rs746347134	608	P>S		No	ClinGen ExAC TOPMed gnomAD
CA2540511 rs746347134	608	P>T		No	ClinGen ExAC TOPMed gnomAD
rs112461291 CA2540510	609	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA353727558 rs1189755269	611	S>A		No	ClinGen gnomAD
rs1485891116 CA353727546	611	S>L		No	ClinGen gnomAD
rs755511582 CA80559618	612	V>A		No	ClinGen TOPMed gnomAD
TCGA novel	612	V>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2540507 rs375258718	614	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2540505 rs752908256	617	G>A		No	ClinGen ExAC TOPMed gnomAD
CA353727399 rs1217964432	617	G>R		No	ClinGen TOPMed
CA2540504 rs765328897	618	S>P		No	ClinGen ExAC TOPMed gnomAD
CA15256556 rs1234493380	621	G>S		No	ClinGen gnomAD
CA2540502 COSM3408138 rs759648511	623	R>Q	Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA2540500 rs368208153	626	L>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs764741169 CA2540477	628	I>T		No	ClinGen ExAC gnomAD
CA2540476 rs759249756	629	T>A		No	ClinGen ExAC gnomAD
rs776103102 CA2540475	630	A>P		No	ClinGen ExAC gnomAD
CA353724693 rs1282810775	630	A>V		No	ClinGen gnomAD
rs139735741 CA2540473	631	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA2540472 rs773551838	633	A>T		No	ClinGen ExAC gnomAD
TCGA novel	635	N>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs772655458 CA353724607	636	N>D		No	ClinGen ExAC TOPMed gnomAD
CA2540471 rs772655458	636	N>Y		No	ClinGen ExAC TOPMed gnomAD
rs544305331 CA2540470	637	M>I		No	ClinGen 1000Genomes ExAC gnomAD
rs1197797965 CA353724530	638	Y>C		No	ClinGen TOPMed
rs1325733063 CA353724547	638	Y>H		No	ClinGen gnomAD
CA353724501 rs1402413052	639	V>M		No	ClinGen gnomAD
rs1172845552 CA353724439	641	Q>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA2540466 rs146397471	642	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs146397471 CA2540467	642	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs756303359 CA2540465	642	R>H		No	ClinGen ExAC TOPMed gnomAD
CA80554969 rs756303359	642	R>L		No	ClinGen ExAC TOPMed gnomAD
rs1475140233 CA353724347	645	Y>D		No	ClinGen gnomAD
CA80554958 rs938623292	647	E>D		No	ClinGen Ensembl
TCGA novel	647	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs763892913 CA2540463	648	S>R		No	ClinGen ExAC TOPMed gnomAD
rs1195917123 CA353724262	648	S>T		No	ClinGen gnomAD
rs1366173737 CA353724130	651	K>R		No	ClinGen TOPMed
CA2540461 rs752370893	652	M>I		No	ClinGen ExAC
rs758372625 CA2540462	652	M>V		No	ClinGen ExAC gnomAD
rs949740667 CA80554939	655	R>W		No	ClinGen TOPMed
TCGA novel	656	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA80554937 rs979954678	657	I>T		No	ClinGen Ensembl
rs1345216667 CA353723780	660	I>N		No	ClinGen gnomAD
rs1294893274 CA353723760	661	T>A		No	ClinGen TOPMed
rs1559880379 CA353723743	661	T>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA353723710 rs1219493774	662	I>V		No	ClinGen gnomAD
rs143364538 CA2540458	664	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1341067817 CA353723585	665	P>L		No	ClinGen gnomAD
rs73214205 CA2540457	666	V>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs772792250 CA353723425	669	S>C		No	ClinGen ExAC gnomAD
CA2540455 rs772792250	669	S>G		No	ClinGen ExAC gnomAD
rs926086561 CA80554904	670	T>N		No	ClinGen TOPMed gnomAD
CA353723360 rs926086561	670	T>S		No	ClinGen TOPMed gnomAD
CA353723318 rs1186937480	671	M>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1409651411 CA353723254	672	K>R		No	ClinGen gnomAD
rs367752855 CA2540454	673	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1186211033 CA353723157	674	D>E		No	ClinGen gnomAD
rs1417783399 CA353723171	674	D>G		No	ClinGen gnomAD
rs748758569 CA353723206	674	D>H		No	ClinGen ExAC TOPMed gnomAD
rs748758569 CA2540453	674	D>N		No	ClinGen ExAC TOPMed gnomAD
rs774566890 CA2540452	675	H>N		No	ClinGen ExAC gnomAD
rs769193385 CA2540451	675	H>P		No	ClinGen ExAC gnomAD
rs1165001871 CA353723078	676	F>S		No	ClinGen TOPMed
CA2540450 rs749490782	677	Q>H		No	ClinGen ExAC gnomAD
CA353722987 rs1436918843	678	L>P		No	ClinGen TOPMed gnomAD
rs1436918843 CA353722990	678	L>R		No	ClinGen TOPMed gnomAD
rs765958333 CA2540440	679	D>G		No	ClinGen ExAC gnomAD
rs760378216 CA2540439	681	E>K		No	ClinGen ExAC gnomAD
rs749895968 CA2540438	682	K>E		No	ClinGen ExAC TOPMed gnomAD
CA80569792 rs866480272 CA353738387	684	M>I		No	ClinGen gnomAD
CA353738391 rs1322711417	684	M>T		No	ClinGen TOPMed
CA2540436 rs762206182	685	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA2540437 rs762206182	685	R>G		No	ClinGen ExAC gnomAD
CA2540435 rs374475620	685	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA2540434 rs769318377	686	V>M		No	ClinGen ExAC gnomAD
rs776014830 CA2540432	688	D>A		No	ClinGen ExAC TOPMed gnomAD
rs776014830 CA353738357	688	D>G		No	ClinGen ExAC TOPMed gnomAD
CA2540433 rs763364589	688	D>N		No	ClinGen ExAC gnomAD
rs776014830 CA353738355	688	D>V		No	ClinGen ExAC TOPMed gnomAD
rs1324030253 CA353738340	689	D>E		No	ClinGen gnomAD
CA353738348 rs1370328831	689	D>N		No	ClinGen gnomAD
rs746171015 CA2540430	692	L>M		No	ClinGen ExAC TOPMed gnomAD
rs781107327 CA2540429	692	L>W		No	ClinGen ExAC TOPMed gnomAD
CA353738299 rs1390278041	693	V>A		No	ClinGen gnomAD
rs993536336 CA80569751	694	D>E		No	ClinGen Ensembl
CA353738293 rs1399343051	694	D>Y		No	ClinGen gnomAD
rs771080139 CA2540428	696	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs747085670 CA2540427	696	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	697	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA353738230 rs778769311	700	E>K		No	ClinGen ExAC gnomAD
CA2540426 rs778769311	700	E>Q		No	ClinGen ExAC gnomAD
CA2540425 rs754921290	701	L>R		No	ClinGen ExAC
CA2540424 rs538000519	702	R>S		No	ClinGen ExAC TOPMed gnomAD
CA353738183 rs1214751596	704	E>G		No	ClinGen TOPMed gnomAD
CA353738188 rs1271706465	704	E>Q		No	ClinGen TOPMed
rs755706877 CA2540422	706	G>A		No	ClinGen ExAC TOPMed gnomAD
CA353738166 rs1287975965	706	G>R		No	ClinGen gnomAD
CA2540421 rs750140619	710	N>D		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	710	N>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2540419 rs761347171	715	V>M		No	ClinGen ExAC gnomAD
TCGA novel	716	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2540418 rs371029935	717	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs371157395 CA2540417	718	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs1163936078 CA353738019	719	V>A		No	ClinGen TOPMed
CA353737983 rs1347314212	723	V>A		No	ClinGen gnomAD
rs763561315	724	K>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA2540393 rs141237662	727	Y>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1194055393 CA353737651	727	Y>H		No	ClinGen gnomAD
CA353737631 COSM1036386 rs1559876883	728	E>D	endometrium [Cosmic]	No	ClinGen cosmic curated Ensembl
CA2540392 rs370208137	728	E>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs1262300330 CA353737618	730	P>S		No	ClinGen TOPMed
rs138460960 CA2540391	732	T>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA353737592 rs138460960	732	T>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA353737582 rs1576784798	733	M>T		No	ClinGen Ensembl
rs773264379 CA2540390	734	K>Q		No	ClinGen ExAC TOPMed gnomAD
CA353737571 rs1250774497	734	K>R		No	ClinGen gnomAD
rs1225340765 CA353737549	736	V>A		No	ClinGen gnomAD
CA2540388 rs749193628	738	D>E		No	ClinGen ExAC TOPMed gnomAD
rs145724807 CA2540389	738	D>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs145724807 CA353737530	738	D>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs775457969 CA353737521	739	L>V		No	ClinGen ExAC TOPMed gnomAD
CA353737498 rs1315341478	741	D>G		No	ClinGen gnomAD
CA353737459 rs1297065077	745	S>P		No	ClinGen gnomAD
CA353737453 rs1360444931	745	S>Y		No	ClinGen TOPMed
rs552926895 CA2540384	746	R>G		No	ClinGen ExAC TOPMed gnomAD
rs756967937 CA353737449	746	R>P		No	ClinGen ExAC TOPMed gnomAD
rs756967937 CA2540383	746	R>Q	Variant assessed as Somatic; 4.624e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA2540381 rs777384217	747	I>N		No	ClinGen ExAC
rs746720157 CA2540382	747	I>V		No	ClinGen ExAC TOPMed gnomAD
CA2540380 rs375158760	749	D>Y		No	ClinGen ESP ExAC gnomAD
CA2540379 rs752274073	750	M>T		No	ClinGen ExAC gnomAD
CA2540378 rs371693250	754	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA80568249 rs986920738	758	I>L		No	ClinGen TOPMed
rs1459130679 CA353737273	758	I>T		No	ClinGen gnomAD
CA2540375 rs766710037	762	E>K		No	ClinGen ExAC gnomAD
CA353737147 rs1576784686	764	K>E		No	ClinGen Ensembl
CA353737126 rs1246020289	764	K>N		No	ClinGen gnomAD
rs1267533690 CA353737139	764	K>T		No	ClinGen gnomAD
TCGA novel	765	K>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1234050824 CA353737010	770	N>I		No	ClinGen TOPMed gnomAD
CA2540372 rs767760044	770	N>K		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	771	F>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	772	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs761832964 CA2540371	773	S>C		No	ClinGen ExAC gnomAD
rs1033479983 CA80568206	774	R>K		No	ClinGen TOPMed
rs1361119662 CA353734109	775	F>L		No	ClinGen gnomAD
rs200219122 CA2540329	776	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs750720921 CA2540330	776	R>W		No	ClinGen ExAC TOPMed gnomAD
CA2540327 rs751781820	777	W>G		No	ClinGen ExAC TOPMed gnomAD
rs1478474852 CA353734021	778	R>S		No	ClinGen gnomAD
CA80563949 rs867954025	785	S>F		No	ClinGen Ensembl
rs375085037 CA2540326	785	S>P		No	ClinGen ESP ExAC gnomAD
CA80563923 rs921853548	786	A>V		No	ClinGen Ensembl
CA353733739 rs1471580594	788	N>D		No	ClinGen gnomAD
CA80563910 rs763580261	788	N>K		No	ClinGen ExAC TOPMed gnomAD
rs1187874088 CA353733688 COSM3118441	789	D>N	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA2540322 rs760758784	793	A>P		No	ClinGen ExAC TOPMed gnomAD
rs1318531389 CA353733475	794	Y>N		No	ClinGen TOPMed gnomAD
CA2540320 rs772039423	798	L>F		No	ClinGen ExAC TOPMed gnomAD
CA353733356 rs772039423	798	L>I		No	ClinGen ExAC TOPMed gnomAD
CA353733256 rs1160116017	799	S>F		No	ClinGen TOPMed
rs773834085 CA2540318	800	A>D		No	ClinGen ExAC gnomAD
rs1284980318 CA353733182	801	L>F		No	ClinGen gnomAD
rs1284980318 CA353733183	801	L>V		No	ClinGen gnomAD
CA353733063 rs1408487634	803	G>D		No	ClinGen TOPMed
CA2540317 rs768378775	805	A>T		No	ClinGen ExAC gnomAD
CA2540316 RCV000974187 rs56683778	805	A>V		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1374818671 CA353732978	806	C>G		No	ClinGen gnomAD
rs770284120 CA2540314	807	N>S		No	ClinGen ExAC gnomAD
rs1306438190 CA353732049	809	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA80563829 rs759138615	809	G>R		No	ClinGen Ensembl
rs1189396763	810	L>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA353732034 rs1489458675 COSM1484441	811	R>C	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA2540295 rs769345375 COSM1200057	811	R>H	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA353732030 rs769345375	811	R>L		No	ClinGen ExAC TOPMed gnomAD
CA2540294 rs746347308	814	T>I		No	ClinGen ExAC TOPMed gnomAD
rs370690519 CA2540293	815	I>T		No	ClinGen ESP ExAC
rs1241196541 CA353731950	820	G>S		No	ClinGen gnomAD
rs1576778644 CA353731935	821	V>A		No	ClinGen Ensembl
CA2540290 rs749903251	821	V>I	Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	823	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs758533825 CA2540289	823	E>K		No	ClinGen ExAC TOPMed gnomAD
CA353731921 rs758533825	823	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs999774161 CA80561934	828	V>L		No	ClinGen Ensembl
TCGA novel	833	P>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2540286 rs755069373	834	I>V		No	ClinGen ExAC TOPMed gnomAD
CA2540285 rs753993267	836	G>R		No	ClinGen ExAC gnomAD
rs1425426677 CA353731675	841	E>K		No	ClinGen gnomAD
CA353731673 rs1425426677	841	E>Q		No	ClinGen gnomAD
CA2540263 rs780249318	842	R>*		No	ClinGen ExAC gnomAD
rs757129900 CA2540262	842	R>Q		No	ClinGen ExAC gnomAD
rs376490982 CA80560779	844	D>E		No	ClinGen ESP ExAC gnomAD
CA2540261 rs751567561	844	D>N		No	ClinGen ExAC TOPMed gnomAD
rs758154245 CA2540259	845	V>I		No	ClinGen ExAC TOPMed gnomAD
CA80560754 rs758154245	845	V>L		No	ClinGen ExAC TOPMed gnomAD
rs764799567 CA2540258	846	P>S		No	ClinGen ExAC TOPMed gnomAD
CA2540257 rs764799567	846	P>T		No	ClinGen ExAC TOPMed gnomAD
rs539390198 CA2540256	847	A>D		No	ClinGen 1000Genomes ExAC gnomAD
CA353731582 rs1320646315	847	A>T		No	ClinGen gnomAD
CA80560724 rs867788672	848	H>Y		No	ClinGen Ensembl
CA353731545 rs1244561035	849	L>S		No	ClinGen gnomAD
rs549344834 CA2540254	851	K>E		No	ClinGen ExAC gnomAD
rs549344834 CA2540255	851	K>Q		No	ClinGen ExAC gnomAD
CA2540253 rs570138154	852	D>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs773727906 CA2540252	853	I>F		No	ClinGen ExAC gnomAD
CA2540251 rs772728566	853	I>M		No	ClinGen ExAC gnomAD
rs773727906 CA353731498	853	I>V		No	ClinGen ExAC gnomAD
rs762210576 CA2540250	854	R>H		No	ClinGen ExAC gnomAD
rs762210576 CA353731479	854	R>P		No	ClinGen ExAC gnomAD
CA2540249 rs774861562	855	N>K		No	ClinGen ExAC gnomAD
TCGA novel	856	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2540248 rs768995462	856	Y>H		No	ClinGen ExAC gnomAD
rs1457198311 CA353731383	859	V>A		No	ClinGen gnomAD
rs1457198311 CA353731384	859	V>E		No	ClinGen gnomAD
CA353731368 rs1345285273	860	S>R		No	ClinGen gnomAD
rs372706878 COSM3767170 CA80560687	861	P>L	liver [Cosmic]	No	ClinGen cosmic curated ESP TOPMed gnomAD
rs985075515 CA80560696	861	P>S		No	ClinGen Ensembl
rs1462847027 CA353731312	864	F>Y		No	ClinGen TOPMed
CA80560661 rs1026860080	866	M>T		No	ClinGen Ensembl
CA353731237 rs1424676828	868	L>P		No	ClinGen gnomAD
CA353731211 rs1415563517 COSM220433	870	G>R	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA2540244 rs745969231	871	K>R		No	ClinGen ExAC gnomAD
CA80560647 rs201860479	872	D>A		No	ClinGen 1000Genomes
rs1239346844 CA353731156	873	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs758332299 CA2540242	876	K>I		No	ClinGen ExAC gnomAD
CA353731063 rs1354677795	878	W>*		No	ClinGen gnomAD
TCGA novel	881	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA353730997 rs1267662928	882	P>T		No	ClinGen gnomAD
CA353730937 rs1359712970	883	M>I		No	ClinGen gnomAD
rs369343049 CA2540241	883	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1158529782 CA353730868	886	M>I		No	ClinGen Ensembl
CA353730838 rs1400534681	888	I>M		No	ClinGen TOPMed
CA2540240 rs778734592	888	I>T		No	ClinGen ExAC gnomAD
rs765977366 CA2540237	891	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs765977366 CA353730766	891	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA2540236 rs760182181	893	I>V		No	ClinGen ExAC gnomAD
rs749914568 CA2540235 COSM3118432	895	S>L	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA353730651 rs1559873627	896	M>T		No	ClinGen Ensembl
CA2540232 rs774845090	899	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1156880542 CA353730275	900	R>K		No	ClinGen TOPMed gnomAD
CA2540230 rs764603912	901	Q>R		No	ClinGen ExAC gnomAD
CA353730191 rs1269828092	904	A>E		No	ClinGen gnomAD
rs775744143 CA353730195	904	A>S		No	ClinGen ExAC gnomAD
rs775744143 CA2540228	904	A>T		No	ClinGen ExAC gnomAD
TCGA novel	904	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA353730162 rs1281258224	906	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1196485365 CA353730155	906	Q>H		No	ClinGen gnomAD
CA2540227 rs769934632	910	G>E		No	ClinGen ExAC gnomAD
CA353730056 rs1373744483	911	M>I		No	ClinGen TOPMed
CA2540225 rs771980493	912	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA80560578 rs972268922	912	R>H		No	ClinGen TOPMed gnomAD
rs771980493 CA2540224	912	R>S		No	ClinGen ExAC gnomAD
CA2540222 rs151192858	914	P>S		No	ClinGen ESP ExAC
CA2540221 rs754726058	915	E>D		No	ClinGen ExAC gnomAD
CA353729970 rs1329278792	916	D>V		No	ClinGen gnomAD
CA2540219 rs779698640	917	E>K		No	ClinGen ExAC gnomAD
rs1019048233 CA80560560	920	G>S		No	ClinGen TOPMed gnomAD
CA80560542 rs749944346	922	G>D		No	ClinGen ExAC TOPMed gnomAD
CA2540217 rs749944346	922	G>V		No	ClinGen ExAC TOPMed gnomAD
rs757817759 CA2540215	923	Y>D		No	ClinGen ExAC TOPMed gnomAD
CA2540216 rs757817759	923	Y>N		No	ClinGen ExAC TOPMed gnomAD
rs1233928138 CA353729762	925	S>R		No	ClinGen TOPMed
CA353729707 rs1379901866	927	H>P		No	ClinGen gnomAD
rs1200840470 CA353729684	927	H>Q		No	ClinGen gnomAD
rs142190771 CA2540213	928	Q>K		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	929	G>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1180394677 CA353729611	930	Y>H		No	ClinGen TOPMed
CA353729559 rs1290935045	932	D>A		No	ClinGen gnomAD
TCGA novel	932	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2540211 rs775734583	933	G>D		No	ClinGen ExAC gnomAD
CA353729439 rs1224096401	938	Y>*		No	ClinGen gnomAD
CA2540209 rs114697626 RCV000890527	938	Y>H		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1333893610 CA353729420	939	R>C		No	ClinGen TOPMed gnomAD
rs758506508 CA2540208	939	R>H	Variant assessed as Somatic; 0.0002776 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs747121351 CA2540205	940	H>R		No	ClinGen ExAC gnomAD
rs771036367 CA2540206	940	H>Y		No	ClinGen ExAC gnomAD
rs768490063 CA2540203	941	H>P		No	ClinGen ExAC TOPMed gnomAD
CA2540202 rs749044930	943	S>T		No	ClinGen ExAC TOPMed gnomAD
CA353729246 rs779780816	944	Y>C		No	ClinGen ExAC gnomAD
rs779780816 CA2540201	944	Y>F		No	ClinGen ExAC gnomAD
CA353729224 rs1465621267	945	H>P		No	ClinGen gnomAD
CA80560459 rs940880766	946	H>R		No	ClinGen TOPMed
CA2540198 rs745557392	947	G>V		No	ClinGen ExAC gnomAD
rs1476161142 CA353729100	948	Y>*		No	ClinGen gnomAD
CA2540197 rs780820606	948	Y>H		No	ClinGen ExAC TOPMed gnomAD
CA353729122 rs780820606	948	Y>N		No	ClinGen ExAC TOPMed gnomAD
rs1343176947 CA353729075	949	P>L		No	ClinGen TOPMed

No associated diseases with Q76M96

2 regional properties for Q76M96

Type	Name	Position	InterPro Accession
conserved_site	Calreticulin/calnexin, conserved site	107 - 122	IPR018124-1
conserved_site	Calreticulin/calnexin, conserved site	139 - 147	IPR018124-2

Functions

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

3 GO annotations of cellular component

Name	Definition
basement membrane	A collagen-containing extracellular matrix consisting of a thin layer of dense material found in various animal tissues interposed between the cells and the adjacent connective tissue. It consists of the basal lamina plus an associated layer of reticulin fibers.
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.
interstitial matrix	A type of extracellular matrix found in interstitial connective tissue, characterized by the presence of fibronectins, proteoglycans, and types I, III, V, VI, VII and XII collagens.

2 GO annotations of molecular function

Name	Definition
fibronectin binding	Binding to a fibronectin, a group of related adhesive glycoproteins of high molecular weight found on the surface of animal cells, connective tissue matrices, and in extracellular fluids.
heparin binding	Binding to heparin, a member of a group of glycosaminoglycans found mainly as an intracellular component of mast cells and which consist predominantly of alternating alpha-(1->4)-linked D-galactose and N-acetyl-D-glucosamine-6-sulfate residues.

3 GO annotations of biological process

Name	Definition
extracellular matrix organization	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of an extracellular matrix.
positive regulation of cell-substrate adhesion	Any process that increases the frequency, rate or extent of cell-substrate adhesion. Cell-substrate adhesion is the attachment of a cell to the underlying substrate via adhesion molecules.
response to bacterium	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus from a bacterium.

No homologous proteins in AiPD

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

10	20	30	40	50	60
MTWRMGPRFT	MLLAMWLVCG	SEPHPHATIR	GSHGGRKVPL	VSPDSSRPAR	FLRHTGRSRG
70	80	90	100	110	120
IERSTLEEPN	LQPLQRRRSV	PVLRLARPTE	PPARSDINGA	AVRPEQRPAA	RGSPREMIRD
130	140	150	160	170	180
EGSSARSRML	RFPSGSSSPN	ILASFAGKNR	VWVISAPHAS	EGYYRLMMSL	LKDDVYCELA
190	200	210	220	230	240
ERHIQQIVLF	HQAGEEGGKV	RRITSEGQIL	EQPLDPSLIP	KLMSFLKLEK	GKFGMVLLKK
250	260	270	280	290	300
TLQVEERYPY	PVRLEAMYEV	IDQGPIRRIE	KIRQKGFVQK	CKASGVEGQV	VAEGNDGGGG
310	320	330	340	350	360
AGRPSLGSEK	KKEDPRRAQV	PPTRESRVKV	LRKLAATAPA	LPQPPSTPRA	TTLPPAPATT
370	380	390	400	410	420
VTRSTSRAVT	VAARPMTTTA	FPTTQRPWTP	SPSHRPPTTT	EVITARRPSV	SENLYPPSRK
430	440	450	460	470	480
DQHRERPQTT	RRPSKATSLE	SFTNAPPTTI	SEPSTRAAGP	GRFRDNRMDR	REHGHRDPNV
490	500	510	520	530	540
VPGPPKPAKE	KPPKKKAQDK	ILSNEYEEKY	DLSRPTASQL	EDELQVGNVP	LKKAKESKKH
550	560	570	580	590	600
EKLEKPEKEK	KKKMKNENAD	KLLKSEKQMK	KSEKKSKQEK	EKSKKKKGGK	TEQDGYQKPT
610	620	630	640	650	660
NKHFTQSPKK	SVADLLGSFE	GKRRLLLITA	PKAENNMYVQ	QRDEYLESFC	KMATRKISVI
670	680	690	700	710	720
TIFGPVNNST	MKIDHFQLDN	EKPMRVVDDE	DLVDQRLISE	LRKEYGMTYN	DFFMVLTDVD
730	740	750	760	770	780
LRVKQYYEVP	ITMKSVFDLI	DTFQSRIKDM	EKQKKEGIVC	KEDKKQSLEN	FLSRFRWRRR
790	800	810	820	830	840
LLVISAPNDE	DWAYSQQLSA	LSGQACNFGL	RHITILKLLG	VGEEVGGVLE	LFPINGSSVV
850	860	870	880	890	900
EREDVPAHLV	KDIRNYFQVS	PEYFSMLLVG	KDGNVKSWYP	SPMWSMVIVY	DLIDSMQLRR
910	920	930	940
QEMAIQQSLG	MRCPEDEYAG	YGYHSYHQGY	QDGYQDDYRH	HESYHHGYPY