AiPD: Autoinhibited Protein Database

Q96RT6

Gene name	CTAGE1 (CTAGE2)
Protein name	cTAGE family member 2
Names	Protein cTAGE-2, Cancer/testis antigen 21.2, CT21.2
Species	Homo sapiens (Human)
KEGG Pathway	hsa:64693
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

563-669 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

563-669 (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 Q96RT6

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q96RT6-F1	Predicted				AlphaFoldDB

777 variants for Q96RT6

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1287948190 CA401770479	2	R>K		No	ClinGen gnomAD
rs921288850 CA297015481	3	P>A		No	TOPMed ClinGen
rs1454857592 CA401770471	3	P>H		No	TOPMed ClinGen
CA401770468 COSM1387987 COSM1387986 rs1333081479	4	D>N	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	gnomAD ClinGen cosmic curated NCI-TCGA
CA8909630 rs201319761	5	S>P		No	ESP ExAC TOPMed gnomAD ClinGen
CA401770461 rs201319761	5	S>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs369370325 CA8909629	7	P>L		No	ESP ExAC TOPMed gnomAD ClinGen
rs1405187477 CA401770446	7	P>S		No	ClinGen TOPMed
CA8909628 rs777902513	8	Y>C		No	ExAC gnomAD ClinGen
CA401770418 rs1347748113	11	P>Q		No	TOPMed ClinGen
rs1226980676 CA401770412	12	W>S		No	TOPMed ClinGen
rs772138960 CA8909627	13	E>G		No	ClinGen ExAC gnomAD
TCGA novel	13	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA401770384 rs571458052	16	I>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs912356663 CA297015400	16	I>M		No	ClinGen TOPMed
CA8909626 rs571458052	16	I>T		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs779323685 CA8909625	17	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA8909624 rs755487694	17	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen NCI-TCGA
TCGA novel	18	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	18	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1488236025 CA401770372	19	A>T		No	ClinGen TOPMed
CA8909622 rs373450822	21	A>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA401770360 rs373450822	21	A>T		No	ESP ExAC TOPMed gnomAD ClinGen
rs1465749822 CA401770356	21	A>V		No	gnomAD ClinGen
CA8909621 rs756476268	22	G>V		No	ExAC gnomAD ClinGen
CA401770345 rs1206929023	23	F>Y		No	gnomAD ClinGen
rs1347370738 CA401770338	24	F>S		No	ClinGen gnomAD
CA8909620 rs750068905	26	V>F		No	ClinGen ExAC gnomAD
COSM986995 rs200261135 CA297015347 COSM986996	28	F>L	endometrium [Cosmic]	No	1000Genomes gnomAD ClinGen cosmic curated
CA297015342 rs201220736	28	F>S		No	1000Genomes ClinGen
CA401770297 rs1181229424	30	W>C		No	ClinGen TOPMed
rs767099679 CA8909619	30	W>R		No	ClinGen ExAC TOPMed
CA401770288 rs1299565132	32	S>R		No	gnomAD ClinGen
CA8909618 rs761349056	32	S>R		No	ClinGen ExAC gnomAD
CA401770270 rs1364408227	34	R>K		No	TOPMed gnomAD ClinGen
rs368879841 CA297015335	35	S>L		No	ESP ClinGen
CA8909617 rs751121636	35	S>T		No	ExAC gnomAD ClinGen
rs551245351 CA297015326	36	V>D		No	ClinGen 1000Genomes
rs762974650 CA8909615	37	T>M		No	ClinGen ExAC TOPMed gnomAD
CA8909616 rs762974650	37	T>R		No	ExAC TOPMed gnomAD ClinGen
CA401770252 rs1252713371	38	S>C		No	gnomAD ClinGen
rs1194177055 CA401770243	39	R>L		No	ClinGen TOPMed gnomAD
TCGA novel	39	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs374840189 CA8909613	39	R>W		No	ESP ExAC gnomAD ClinGen
CA297015293 rs995686138	41	Y>C		No	TOPMed ClinGen
rs759269246 CA8909612	41	Y>H		No	ExAC gnomAD ClinGen
CA401770236 rs759269246	41	Y>N		No	ClinGen ExAC gnomAD
rs1170910996 CA401770205	45	E>D		No	ClinGen TOPMed gnomAD
CA297015268 rs757348631	45	E>Q		No	Ensembl ClinGen
rs1444267322 CA401770186	48	F>L		No	ClinGen gnomAD
TCGA novel	49	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8909608 rs778949279	52	L>V		No	ClinGen ExAC TOPMed gnomAD
CA8909607 rs368675297	54	G>E		No	ESP ExAC TOPMed gnomAD ClinGen
CA401770144 rs749765092	55	L>V		No	ExAC TOPMed gnomAD ClinGen
rs1341341161 CA401770126	57	E>D		No	gnomAD ClinGen
CA401770133 rs1228890010	57	E>K		No	gnomAD ClinGen
rs756453443 CA8909604	58	E>D		No	ClinGen ExAC TOPMed gnomAD
rs1358792254 CA401770125	58	E>K		No	TOPMed ClinGen
CA8909603 rs750787091	60	C>G		No	ExAC gnomAD ClinGen
CA297015208 rs1034466238	60	C>Y		No	TOPMed ClinGen
CA297015198 rs376319377	62	L>I		No	ESP TOPMed gnomAD ClinGen
rs780833872 CA8909602	63	L>F		No	ExAC gnomAD ClinGen
CA401770092 rs780833872	63	L>I		No	ClinGen ExAC gnomAD
rs756876468 CA8909600	66	F>L		No	ExAC gnomAD ClinGen
CA297015151 rs906788779	67	S>R		No	TOPMed ClinGen
CA401770053 rs1481534146	68	L>P		No	TOPMed ClinGen
rs1338923111 CA401770051	69	V>I		No	gnomAD ClinGen
rs1568128563 CA401770043	70	Q>*		No	Ensembl ClinGen
CA401770040 rs1598491447	70	Q>H		No	ClinGen Ensembl
CA8909599 rs751319523	70	Q>P		No	ExAC gnomAD ClinGen
rs1430847047 CA401770037	71	K>E		No	ClinGen gnomAD
TCGA novel	71	K>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1390100412 CA401770027	72	E>G		No	gnomAD ClinGen
rs763697632 CA8909598	73	Y>C		No	ClinGen ExAC gnomAD
rs752629888 CA8909596	75	G>D		No	ClinGen ExAC gnomAD
rs1186966305 CA401770007	75	G>S		No	gnomAD ClinGen
CA297015131 rs752663928	76	Y>C		No	ClinGen Ensembl
rs1009752323 CA297015117	78	V>I		No	ClinGen TOPMed
CA8909595 rs765115661	80	S>L		No	ExAC gnomAD ClinGen
rs759305878 CA8909594	81	S>P		No	ClinGen ExAC gnomAD
rs1482644005 CA401769959	82	L>F		No	ClinGen gnomAD
rs1236854062 CA401769961	82	L>S		No	ClinGen TOPMed gnomAD
CA8909593 rs765099199	83	K>E		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	83	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8909592 rs765099199	83	K>Q		No	ClinGen ExAC TOPMed gnomAD
CA401769950 rs1229903109	84	N>D		No	gnomAD ClinGen
rs199824409 CA401769945 CA8909591	84	N>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs774596328 CA8909590	87	F>S		No	ClinGen ExAC gnomAD
TCGA novel	88	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8909589 rs768701296	88	E>G		No	ExAC gnomAD ClinGen
CA297015050 rs749393418	89	K>N		No	ClinGen ExAC
CA8909586 rs770209006	91	A>S		No	ClinGen ExAC gnomAD
rs770209006 CA401769901	91	A>T		No	ClinGen ExAC gnomAD
rs549778338 CA8909585	94	A>V		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs1370279037 CA401769867	96	S>C		No	ClinGen TOPMed gnomAD
CA8909584 rs530065234	96	S>R		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs560943805 CA8909583	98	E>D		No	1000Genomes ExAC gnomAD ClinGen
rs1301573638 CA401769848	99	A>T		No	ClinGen TOPMed
rs1392105203 CA401769841	100	T>A		No	ClinGen gnomAD
CA8909581 rs777586059	100	T>N		No	ClinGen ExAC TOPMed gnomAD
rs1392105203 CA401769840	100	T>S		No	ClinGen gnomAD
CA8909582 rs777586059	100	T>S		No	ExAC TOPMed gnomAD ClinGen
COSM986994 CA8909580 rs541555782 COSM229316	102	E>K	Variant assessed as Somatic; 0.0 impact. endometrium skin [NCI-TCGA, Cosmic]	No	1000Genomes ExAC gnomAD ClinGen cosmic curated NCI-TCGA
rs752288748 CA8909579	103	K>R		No	ExAC gnomAD ClinGen
CA401769810 rs1472394697	105	N>D		No	ClinGen gnomAD
rs1598491378 CA401769795	107	F>L		No	Ensembl ClinGen
rs1453409011 CA401769790	107	F>L		No	ClinGen TOPMed
rs1317273985 CA401769785	108	N>I		No	ClinGen TOPMed
rs374980447 CA8909578	111	L>F		No	ESP ExAC gnomAD ClinGen
rs374980447 CA8909577	111	L>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ESP ExAC gnomAD ClinGen NCI-TCGA
rs753854448 CA8909576	112	V>E		No	ClinGen ExAC TOPMed gnomAD
CA297014990 rs892656855	113	H>R		No	TOPMed gnomAD ClinGen
TCGA novel	114	E>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs370060769 CA8909575	115	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1461720702 CA401769734	116	L>F		No	TOPMed ClinGen
rs377019906 CA8909574	116	L>P		No	ESP ExAC TOPMed gnomAD ClinGen
TCGA novel	117	C>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1568128392 CA401769728	117	C>Y		No	ClinGen Ensembl
CA401769718 rs1245659399	119	E>K		No	TOPMed ClinGen
rs572409609 CA8909573	121	E>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA8909572 rs764302951	123	K>Q		No	ClinGen ExAC gnomAD
CA401769675 rs1350941246	124	E>D		No	ClinGen gnomAD
rs762977905 CA8909571	125	E>K		No	ClinGen ExAC gnomAD
CA401769658 rs1186720924	127	S>T		No	TOPMed ClinGen
TCGA novel	127	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs775452227 CA8909570	128	K>E		No	ClinGen ExAC gnomAD
rs1369468574 CA401769638	129	H>Q		No	gnomAD ClinGen
CA8909569 rs769962250	130	S>P		No	ClinGen ExAC TOPMed gnomAD
rs746325500 CA8909567	131	E>V		No	ClinGen ExAC
rs777257609 CA8909566	132	Q>*		No	ClinGen ExAC gnomAD
CA8909565 rs771368746	132	Q>R		No	ExAC gnomAD ClinGen
rs747386412 CA8909564	133	N>D		No	ClinGen ExAC TOPMed gnomAD
rs372035129 CA8909561	137	A>E		No	ESP ExAC TOPMed gnomAD ClinGen
CA8909562 rs758148831	137	A>S		No	ClinGen ExAC gnomAD
rs372035129 CA297014914	137	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ESP ExAC TOPMed gnomAD ClinGen NCI-TCGA
rs368621519 CA297014889	138	D>G		No	ESP ClinGen
rs1393006674 CA401769585	138	D>H		No	ClinGen gnomAD
CA297014883 rs1040111743	139	I>T		No	ClinGen TOPMed gnomAD
rs200063482 CA8909556	145	S>*		No	ClinGen ExAC TOPMed gnomAD
CA8909557 rs200063482	145	S>L		No	ClinGen ExAC TOPMed gnomAD
CA8909554 rs764249523	146	L>V		No	ClinGen ExAC TOPMed gnomAD
rs1303146237 CA401769516	148	D>G		No	gnomAD ClinGen
rs1368813668 CA401769520	148	D>N		No	gnomAD ClinGen
rs763137438 CA8909553	149	E>A		No	ExAC gnomAD ClinGen
CA8909552 rs192593442	149	E>D		No	ClinGen 1000Genomes ExAC
rs763137438 CA401769509	149	E>G		No	ClinGen ExAC gnomAD
rs1439256989 CA401769511	149	E>K		No	gnomAD ClinGen
CA401769501 rs1321275621	150	S>L		No	TOPMed gnomAD ClinGen
CA8909551 rs370800391	153	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA8909550 rs759679661	154	K>R		No	ClinGen ExAC gnomAD
rs776939884 CA8909549	155	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen NCI-TCGA
CA297014814 rs372815739	157	V>I		No	ClinGen TOPMed
CA401769460 rs372815739	157	V>L		No	TOPMed ClinGen
CA8909548 rs771599949	158	A>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs761074489 CA8909547	160	A>T		No	ClinGen ExAC gnomAD
CA401769433 rs1248616367	161	K>N		No	gnomAD ClinGen
CA8909546 rs545245742	161	K>R		No	ClinGen 1000Genomes ExAC
CA401769407 rs1187348207	165	K>Q		No	gnomAD ClinGen
CA8909545 rs772606152	166	R>S		No	ExAC TOPMed gnomAD ClinGen
CA297014790 rs369669896	167	F>L		No	ClinGen ESP TOPMed
CA401769378 rs1238829135	169	A>T		No	ClinGen gnomAD
CA8909544 rs576826595	169	A>V		No	1000Genomes ExAC gnomAD ClinGen
CA8909542 CA401769368 rs767993073	170	N>K		No	ExAC gnomAD ClinGen
COSM1202551 COSM1202550 rs372127240 CA8909541	173	R>W	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ESP ExAC TOPMed gnomAD ClinGen cosmic curated NCI-TCGA
CA8909540 rs779924699	174	L>V		No	ExAC gnomAD ClinGen
rs1381709269 CA401769340	175	E>Q		No	gnomAD ClinGen
rs756065950 CA8909539	176	I>L		No	ClinGen ExAC TOPMed gnomAD
rs750407061 CA8909538	176	I>T		No	ExAC TOPMed gnomAD ClinGen
rs187253390 CA8909536	177	E>K		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs187253390 CA8909537	177	E>Q		No	1000Genomes ExAC TOPMed gnomAD ClinGen
TCGA novel	178	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA401769307 rs1347128550	180	D>Y		No	ClinGen TOPMed
CA8909534 rs573723721	181	A>V		No	1000Genomes ExAC TOPMed gnomAD ClinGen
CA297014707 rs563242342	182	W>C		No	Ensembl ClinGen
CA297014710 rs919791239	182	W>R		No	ClinGen TOPMed
CA401769285 rs1390703318	183	K>*		No	ClinGen TOPMed gnomAD
CA401769286 rs1390703318	183	K>E		No	TOPMed gnomAD ClinGen
TCGA novel	185	N>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1167944744 CA401769247	188	L>F		No	ClinGen gnomAD
TCGA novel	191	S>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1426672771 CA401769224	191	S>N		No	ClinGen gnomAD
rs1482695877 CA401769193	195	L>F		No	ClinGen gnomAD
CA8909531 rs766617257	195	L>R		No	ExAC gnomAD ClinGen
TCGA novel	196	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs761235536 CA8909530	199	A>V		No	ExAC gnomAD ClinGen
rs762252148 COSM563071 COSM563070 CA8909527	202	W>R	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ExAC gnomAD ClinGen cosmic curated NCI-TCGA
rs1033983086 CA297014655	207	S>G		No	TOPMed ClinGen
rs1221269192 CA401769108	207	S>N		No	TOPMed ClinGen
rs1306303017 CA401769105	207	S>R		No	ClinGen gnomAD
TCGA novel	208	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	209	L>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1314887065 CA401769086	210	I>N		No	gnomAD ClinGen
rs1314887065 CA401769085	210	I>T		No	gnomAD ClinGen
rs773807468 CA8909526	213	K>R		No	ClinGen ExAC gnomAD
rs768384979 CA8909525	214	R>G		No	ClinGen ExAC
rs553477787 CA8909524	215	T>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA401769044 rs1411409365	216	F>S		No	ClinGen gnomAD
CA8909523 rs779515078	218	D>V		No	ExAC TOPMed gnomAD ClinGen
CA8909522 rs769330983	219	S>P		No	ClinGen ExAC gnomAD
rs370758105 CA8909521	220	K>E		No	ESP ExAC TOPMed gnomAD ClinGen
rs370758105 CA401769020	220	K>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA401769008 rs1474633137	221	V>G		No	ClinGen TOPMed gnomAD
rs771603655 CA8909520	222	H>P		No	ExAC gnomAD ClinGen
rs771603655 CA401769003	222	H>R		No	ClinGen ExAC gnomAD
rs1403718834 CA401768995	223	A>V		No	ClinGen TOPMed
TCGA novel	227	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1183824870 CA401768967	228	N>H		No	gnomAD ClinGen
CA401768963 rs1472717925	228	N>S		No	TOPMed gnomAD ClinGen
CA8909518 rs746855683	229	D>A		No	ExAC gnomAD ClinGen
CA401768956 rs746855683	229	D>V		No	ClinGen ExAC gnomAD
CA8909519 rs756939737	229	D>Y		No	ExAC gnomAD ClinGen
rs1479933700 CA401768952	230	K>E		No	ClinGen gnomAD
rs200584981 CA8909517	230	K>R		No	1000Genomes ExAC TOPMed gnomAD ClinGen
CA401768944 rs1222389966	231	E>K		No	ClinGen gnomAD
rs1291523382 CA401768937	232	N>D		No	ClinGen TOPMed gnomAD
rs1568127864 CA401768935	232	N>T		No	ClinGen Ensembl
rs1230389514 CA401768928	233	H>Y		No	gnomAD ClinGen
CA8909516 rs373271841	234	I>M		No	ClinGen ExAC gnomAD
CA8909515 rs377384297	235	K>M		No	ESP ExAC gnomAD ClinGen
TCGA novel	235	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs761245420 CA8909514	236	T>S		No	ClinGen ExAC gnomAD
CA401768902 rs1294102721	237	L>P		No	ClinGen TOPMed gnomAD
rs1369602730 CA401768903	237	L>V		No	gnomAD ClinGen
rs750902359 CA297014558	240	R>C		No	ClinGen ExAC TOPMed gnomAD
CA8909511 rs762042711	240	R>H		No	ClinGen ExAC gnomAD
CA8909510 rs762042711	240	R>L		No	ExAC gnomAD ClinGen
CA8909512 rs750902359	240	R>S		No	ClinGen ExAC TOPMed gnomAD
rs764412838 CA8909508	243	K>N		No	ExAC TOPMed gnomAD ClinGen
rs1598491143 CA401768859	244	M>I		No	ClinGen Ensembl
rs571209098 CA8909507	244	M>V		No	ClinGen 1000Genomes ExAC gnomAD
rs1181502329 CA401768846	246	D>H		No	TOPMed gnomAD ClinGen
rs1181502329 CA401768847	246	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1598491136 CA401768831	248	V>D		No	Ensembl ClinGen
rs1194742398 CA401768826	249	A>S		No	ClinGen gnomAD
rs374665588 CA8909505	250	M>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs369356584 COSM473675 CA8909506 COSM473676	250	M>V	kidney [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA8909504 rs551576226	251	L>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs372541674 CA8909503	251	L>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA401768812 rs372541674	251	L>R		No	ESP ExAC TOPMed gnomAD ClinGen
rs1183127657 CA401768802	253	E>K		No	ClinGen TOPMed
CA8909502 rs770926965	254	D>G		No	ExAC TOPMed gnomAD ClinGen
rs1260402128 CA401768795	254	D>N		No	gnomAD ClinGen
rs746971304 CA8909501	256	T>M		No	ClinGen ExAC gnomAD
CA8909499 rs758196293	257	D>H		No	ClinGen ExAC gnomAD
CA8909497 rs369727044	259	D>G		No	ESP ExAC TOPMed ClinGen
CA8909498 rs749509447	259	D>Y		No	ExAC gnomAD ClinGen
rs750562790 CA8909495	262	E>G		No	ExAC TOPMed gnomAD ClinGen
CA8909493 RCV000961544 rs182517113	264	E>G		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA8909494 rs767860555	264	E>Q		No	ClinGen ExAC gnomAD
rs1467269440 CA401768717	265	M>T		No	gnomAD ClinGen
CA401768699 rs1379663573	267	S>N		No	ClinGen gnomAD
COSM473674 rs764512165 COSM473673 CA8909491	269	S>L	kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA8909489 rs568690109	270	E>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8909490 rs763362856	270	E>K		No	ExAC gnomAD ClinGen
rs878941003 CA297014399	271	D>N		No	Ensembl ClinGen
rs1598491087 CA401768664	273	A>T		No	Ensembl ClinGen
CA401768651 rs1472253935	274	Y>*		No	ClinGen gnomAD
TCGA novel	275	L>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1418629022 CA401768625	278	P>S		No	ClinGen gnomAD
rs759002167 CA8909486	279	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC gnomAD ClinGen NCI-TCGA
rs1190176570 CA401768611	280	K>I		No	gnomAD ClinGen
CA401768603 rs1256322245	281	G>V		No	ClinGen TOPMed gnomAD
rs201580348 CA8909485	282	A>D		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA401768598 rs201580348	282	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	283	L>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs770390907 CA8909484	285	K>E		No	ExAC gnomAD ClinGen
TCGA novel	285	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1325297651 CA401768571	286	L>R		No	ClinGen gnomAD
CA8909482 rs773083330	288	H>R		No	ClinGen ExAC gnomAD
CA401768561 rs1460375878	288	H>Y		No	ClinGen TOPMed
rs376589036 CA297014371	289	A>G		No	ESP ClinGen
CA401768542 rs1397379291	291	K>T		No	ClinGen gnomAD
CA8909480 rs747962802	292	L>V		No	ExAC gnomAD ClinGen
CA8909479 rs780383237	294	A>V		No	ExAC TOPMed gnomAD ClinGen
CA401768495 rs1393804649	298	T>P		No	ClinGen gnomAD
CA401768493 rs1170967346	298	T>S		No	ClinGen gnomAD
TCGA novel	300	E>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs770162854 CA8909478	301	G>R		No	ExAC gnomAD ClinGen
rs746139402 CA8909477	303	R>I		No	ClinGen ExAC gnomAD
RCV000931777 rs190685228 CA8909476	305	Q>E		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA8909475 rs757345410	305	Q>P		No	ClinGen ExAC gnomAD
rs1598491019 CA401768441	306	I>V		No	Ensembl ClinGen
rs774858284 CA8909474	311	S>Y		No	ClinGen ExAC TOPMed gnomAD
CA8909473 rs778152264	312	E>K		No	ClinGen ExAC TOPMed gnomAD
CA8909472 rs758691590	313	V>A		No	ExAC gnomAD ClinGen
rs1196241165 CA401768381	314	D>E		No	TOPMed gnomAD ClinGen
COSM986985 CA8909471 COSM986984 rs753087084	315	K>E	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ExAC gnomAD ClinGen cosmic curated NCI-TCGA
rs1246413777 CA401768371	316	T>I		No	gnomAD ClinGen
CA8909470 rs765643156	316	T>P		No	ExAC gnomAD ClinGen
TCGA novel	317	K>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs368489121 CA8909469	318	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA401768351 rs1469219386	319	E>*		No	TOPMed ClinGen
rs1384329317 CA401768348	319	E>V		No	TOPMed ClinGen
CA401768344 rs753503451	320	L>F		No	ExAC gnomAD ClinGen
CA401768342 rs1380078663	320	L>P		No	TOPMed ClinGen
CA8909468 rs753503451	320	L>V		No	ClinGen ExAC gnomAD
COSM986983 CA8909467 COSM986982 rs765901474	322	E>K	endometrium [Cosmic]	No	ExAC gnomAD ClinGen cosmic curated
rs1228526642 CA401768325	323	H>Y		No	ClinGen TOPMed
rs1166196416 CA401768316	324	I>T		No	ClinGen gnomAD
CA8909464 rs12961009	324	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA401768297 rs1418826465	327	L>I		No	ClinGen gnomAD
CA401768285 rs1187426822	328	Q>H		No	gnomAD ClinGen
rs761650705 CA8909462	330	E>K		No	ClinGen ExAC TOPMed
rs761650705 CA297014284	330	E>Q		No	ExAC TOPMed ClinGen
CA8909461 rs774264889	331	Q>E		No	ClinGen ExAC gnomAD
rs774264889 CA401768271	331	Q>K		No	ClinGen ExAC gnomAD
TCGA novel	333	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1182290282 CA401768249	334	L>S		No	ClinGen gnomAD
CA401768234 rs1462691596	336	S>L		No	ClinGen TOPMed
CA8909459 rs746081338	337	E>A		No	ExAC gnomAD ClinGen
rs376583827 CA8909458	339	T>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs770981919 CA8909457	340	H>N		No	ClinGen ExAC gnomAD
CA8909455 rs778297945	342	E>K		No	ClinGen ExAC gnomAD
CA8909454 rs373683537	342	E>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA8909452 rs368467764	343	S>G		No	ClinGen ExAC TOPMed gnomAD
CA8909450 rs545500925 CA8909449	343	S>R		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs368467764 CA8909453	343	S>R		No	ClinGen ExAC TOPMed gnomAD
rs1443432867 CA401768185	344	E>K		No	ClinGen gnomAD
rs1335679810 CA401768154	348	L>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	gnomAD ClinGen NCI-TCGA
CA8909448 rs370267319	351	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs370267319 CA401768132	351	K>Q		No	ESP ExAC TOPMed gnomAD ClinGen
CA401768123 rs1395231428	352	L>F		No	ClinGen TOPMed gnomAD
CA297014192 rs376427320	353	K>E		No	ESP TOPMed gnomAD ClinGen
CA401768109 rs1414530809	354	V>E		No	ClinGen gnomAD
TCGA novel	354	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA401768099 rs1383546701	355	M>I		No	ClinGen TOPMed
rs1469499133 CA401768106	355	M>L		No	ClinGen gnomAD
CA8909446 rs767184512	358	L>F		No	ClinGen ExAC gnomAD
rs761809935 CA8909445	359	Y>C		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	360	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1468884811 CA401768047	362	N>K		No	TOPMed gnomAD ClinGen
rs373439523 CA8909443	367	Y>H		No	ESP ExAC TOPMed gnomAD ClinGen
CA8909442 rs762667398	368	R>K		No	ExAC gnomAD ClinGen
rs545910335 CA297014150	368	R>W		No	ClinGen Ensembl
rs773249744 CA8909438	370	L>*		No	ClinGen ExAC gnomAD
CA8909440 rs747309699	370	L>V		No	ClinGen ExAC TOPMed gnomAD
rs772209448 CA8909437	371	I>V		No	ClinGen ExAC TOPMed gnomAD
CA8909436 rs748644520	373	E>G		No	ClinGen ExAC
CA8909434 rs755270843	374	E>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen NCI-TCGA
CA8909431 rs186065608	376	C>Y		No	1000Genomes ExAC TOPMed gnomAD ClinGen
CA8909429 rs377367059	377	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs377367059 CA8909428	377	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA8909430 rs755698762	377	R>W		No	ClinGen ExAC TOPMed gnomAD
rs756882087 CA8909427	379	E>G		No	ExAC TOPMed gnomAD ClinGen
CA8909426 rs751481433	380	K>R		No	ClinGen ExAC gnomAD
rs764127527 CA8909425	381	E>K		No	ExAC gnomAD ClinGen
CA8909424 rs201703390	382	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs1363868902 CA401767918	382	E>K		No	TOPMed ClinGen
rs775128923 CA8909423	383	K>E		No	ClinGen ExAC gnomAD
CA401767902 rs1214543122	384	L>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA297014007 rs866762804	385	S>A		No	Ensembl ClinGen
rs200441475 CA8909422	386	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA401767886 rs1237026179	387	V>I		No	ClinGen gnomAD
CA8909420 rs773483618	388	D>E		No	ExAC TOPMed gnomAD ClinGen
CA401767869 rs1303404950	389	E>G		No	gnomAD ClinGen
rs1598490810 CA401767873	389	E>K		No	ClinGen Ensembl
CA401767864 rs1304130914	390	M>V		No	TOPMed ClinGen
CA401767829 rs1430217559	394	A>D		No	ClinGen gnomAD
rs748233631 CA8909417	394	A>S		No	ExAC gnomAD ClinGen
rs774800585 CA8909416	395	T>P		No	ExAC gnomAD ClinGen
TCGA novel	398	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA297013961 rs868679272	398	L>Q		No	ClinGen Ensembl
CA8909415 rs371606599	402	R>*		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs780250842 CA8909413	402	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen NCI-TCGA
rs1598490782 CA401767777	403	K>Q		No	ClinGen Ensembl
rs574345908 CA8909412	404	R>*		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs574345908 CA297013942	404	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8909411 rs368997111	404	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
CA401767765 rs1222879085	405	A>D		No	ClinGen TOPMed
CA401767763 rs1222879085	405	A>V		No	TOPMed ClinGen
CA401767750 rs1413238038	407	D>G		No	gnomAD ClinGen
TCGA novel	408	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs553733476 CA8909408	408	L>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8909409 rs553733476	408	L>V		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs1238888956 CA401767741	409	K>E		No	gnomAD ClinGen
TCGA novel	411	F>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs201379754 CA8909405	411	F>L		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs867311422 CA297013889	412	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs150608036 CA8909403	414	T>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs764931061 CA8909404	414	T>S		No	ExAC gnomAD ClinGen
TCGA novel	415	I>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8909402 rs750578486	415	I>T		No	ClinGen ExAC gnomAD
CA401767675 rs557602643	418	Y>C		No	1000Genomes ExAC TOPMed gnomAD ClinGen
TCGA novel	418	Y>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8909401 rs557602643	418	Y>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs761832970 CA8909400	420	K>R		No	ExAC gnomAD ClinGen
CA8909398 rs537544486	421	K>N		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs763365832 CA8909397	424	L>F		No	ClinGen ExAC
rs1295406698 CA401767626	425	H>R		No	ClinGen gnomAD
CA401767612 rs1415639600	427	K>E		No	ClinGen gnomAD
rs756054046	429	A>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA401767588 rs1310873455	430	H>R		No	ClinGen gnomAD
CA8909395 rs776121933	431	D>N		No	ExAC TOPMed gnomAD ClinGen
rs769993945 CA8909394	433	W>*		No	ClinGen ExAC gnomAD
CA8909393 rs201265784	434	S>L		No	ClinGen ESP ExAC gnomAD
rs1169100464 CA401767560	434	S>P		No	gnomAD ClinGen
CA401767553 rs1188152282	435	A>E		No	gnomAD ClinGen
CA401767556 rs1415494859	435	A>T		No	ClinGen gnomAD
CA401767550 rs1257207710	436	A>T		No	ClinGen TOPMed gnomAD
CA401767545 rs1186312797	436	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	gnomAD ClinGen NCI-TCGA
CA8909390 rs746702032	437	W>*		No	ClinGen ExAC gnomAD
rs770727097 CA8909391	437	W>L		No	ExAC TOPMed gnomAD ClinGen
CA401767544 rs1440530718	437	W>R		No	TOPMed ClinGen
CA401767528 rs1203893764	439	A>D		No	ClinGen gnomAD
CA8909389 rs777146265	440	E>K		No	ExAC gnomAD ClinGen
rs752522359 CA8909387	443	L>V		No	ClinGen ExAC TOPMed gnomAD
rs1355090554 CA401767496	444	N>D		No	ClinGen gnomAD
CA401767494 rs1291192265	444	N>S		No	gnomAD ClinGen
CA401767486 rs1392963872	445	D>G		No	gnomAD ClinGen
rs1373966102 CA401767473	447	R>K		No	ClinGen gnomAD
CA401767474 rs1598490698	447	R>W		No	ClinGen Ensembl
TCGA novel	449	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8909386 rs778915331	450	N>S		No	ExAC gnomAD ClinGen
CA401767445 rs1355412447	451	A>T		No	Ensembl ClinGen
CA401767435 rs1395951574	452	H>R		No	ClinGen gnomAD
CA8909385 rs754689752	453	N>K		No	ClinGen ExAC
rs1165053189 CA401767427	453	N>S		No	gnomAD ClinGen
CA401767417 rs1460572463	455	Q>*		No	gnomAD ClinGen
CA401767415 rs1460572463	455	Q>K		No	ClinGen gnomAD
rs1415264716 CA401767402	456	K>N		No	ClinGen gnomAD
CA8909383 rs200291990	460	I>T		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs1203582634 CA401767370	461	E>G		No	ClinGen TOPMed
CA8909382 rs761990529	462	F>L		No	ExAC gnomAD ClinGen
CA401767348 rs1254910980	464	I>T		No	ClinGen gnomAD
rs751844137 CA8909381	464	I>V		No	ExAC gnomAD ClinGen
TCGA novel	465	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	465	K>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1251773959 CA401767340	465	K>R		No	TOPMed ClinGen
CA8909380 rs367973407	466	L>F		No	ClinGen ESP ExAC gnomAD
CA401767329 rs1334408660	467	L>S		No	ClinGen TOPMed gnomAD
CA8909379 rs555102124	468	E>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	469	K>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1317233094 CA401767305	470	D>E		No	gnomAD ClinGen
CA401767306 rs775789770	470	D>G		No	ClinGen ExAC gnomAD
rs775789770 CA8909378	470	D>V		No	ClinGen ExAC gnomAD
CA297013732 rs267605127	471	P>S		No	ClinGen 1000Genomes TOPMed
rs759928938 CA8909376	472	Y>H		No	ClinGen ExAC gnomAD
TCGA novel	473	G>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8909373 rs141848460	475	D>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs771491722 CA8909374	475	D>H		No	ExAC gnomAD ClinGen
CA401767269 rs1568126802	476	V>A		No	ClinGen Ensembl
CA8909371 rs777499653	477	P>L		No	ClinGen ExAC gnomAD
CA401767265 rs1439608913	477	P>S		No	TOPMed gnomAD ClinGen
CA401767267 rs1439608913	477	P>T		No	ClinGen TOPMed gnomAD
CA8909369 rs199704250	479	T>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs778667385 CA8909368	480	A>T		No	ClinGen ExAC gnomAD
rs374741810 CA8909367	480	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA8909365 rs779818376	481	F>L		No	ExAC gnomAD ClinGen
CA401767242 rs1194337195	481	F>Y		No	ClinGen gnomAD
CA8909364 rs755959490	484	Q>E		No	ExAC gnomAD ClinGen
TCGA novel CA8909362 rs367804987	484	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ESP ExAC TOPMed gnomAD NCI-TCGA
rs371705557 CA8909363	484	Q>R		No	ClinGen ESP ExAC
CA401767215 rs1486334271	485	H>R		No	TOPMed gnomAD ClinGen
rs758366025 CA8909361	486	S>P		No	ExAC gnomAD ClinGen
rs1233489901 CA401767198	488	Y>C		No	ClinGen gnomAD
COSM986972 COSM986973 CA8909359 rs765279218	488	Y>H	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ExAC TOPMed gnomAD ClinGen cosmic curated NCI-TCGA
rs1201660116 CA401767189	489	G>V		No	ClinGen TOPMed
rs777338662 CA8909357	490	P>S		No	ExAC gnomAD ClinGen
CA401767183 rs1319749014	491	S>T		No	TOPMed gnomAD ClinGen
CA401767176 rs1382386723	492	P>A		No	ClinGen TOPMed gnomAD
CA401767175 rs1382386723	492	P>S		No	ClinGen TOPMed gnomAD
rs1211659372 CA401767165	493	L>F		No	ClinGen TOPMed
CA8909355 rs761129387	494	G>D		No	ClinGen ExAC TOPMed gnomAD
rs766796791 CA8909356	494	G>R		No	ClinGen ExAC TOPMed gnomAD
CA401767154 rs1186803792	495	W>*		No	ClinGen TOPMed
rs771779166 CA8909353	496	P>A		No	ExAC TOPMed gnomAD ClinGen
rs747806640 CA8909352	496	P>L		No	ExAC ClinGen
CA8909354 rs771779166	496	P>S		No	ClinGen ExAC TOPMed gnomAD
CA401767148 rs1454226375	497	S>T		No	ClinGen gnomAD
rs371644316 CA8909349	500	T>M		No	ESP ExAC TOPMed gnomAD ClinGen
CA401767112 rs755838798	502	A>G		No	ExAC TOPMed gnomAD ClinGen
CA8909347 rs755838798	502	A>V		No	ExAC TOPMed gnomAD ClinGen
CA401767106 rs1486496680	503	S>F		No	ClinGen gnomAD
CA8909345 rs777804110	505	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA8909346 rs745702991	505	Y>H		No	ClinGen ExAC gnomAD
rs1158406578 CA401767090	506	P>L		No	ClinGen Ensembl
rs752900161 CA8909343	507	P>L		No	ExAC gnomAD ClinGen
rs375212305 CA8909344	507	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs571592254 CA297013588	508	T>A		No	ClinGen 1000Genomes
CA8909342 rs113967006	509	L>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8909341 rs755124794	511	E>D		No	ClinGen ExAC
rs754334605 CA8909340	512	G>D		No	ClinGen ExAC TOPMed gnomAD
CA401767050 rs1313904535	513	P>H		No	ClinGen gnomAD
CA401767041 rs1400756528	515	R>G		No	gnomAD ClinGen
CA401767039 rs1308824372	515	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA401767035 rs1282520613	515	R>S		No	ClinGen TOPMed
CA297013582 rs1018429760	520	L>F		No	TOPMed ClinGen
CA401766999 rs1281511095	521	P>L		No	ClinGen TOPMed
rs1008231171 CA297013577	522	R>Q		No	ClinGen TOPMed gnomAD
rs767028750 COSM239470 CA8909339	522	R>W	Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs200787711 CA8909338	523	G>E		No	1000Genomes ExAC TOPMed gnomAD ClinGen
CA8909337 rs376038901	524	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1476325451 CA401766982	525	G>E		No	ClinGen gnomAD
rs761524744 CA401766969	527	G>D		No	ClinGen ExAC gnomAD
rs761524744 CA8909335	527	G>V		No	ClinGen ExAC gnomAD
CA401766963 rs1197752542	528	S>F		No	ClinGen TOPMed
CA401766960 rs1440593923	529	R>G		No	TOPMed gnomAD ClinGen
CA8909334 rs372933464	530	G>D		No	ESP ExAC gnomAD ClinGen
rs1275118403 CA401766954	530	G>S		No	TOPMed gnomAD ClinGen
CA401766934 rs1255616775	533	N>T		No	ClinGen gnomAD
CA8909332 rs757301215	535	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1414597384 CA401766917	536	D>H		No	ClinGen TOPMed gnomAD
CA401766916 rs1414597384	536	D>Y		No	TOPMed gnomAD ClinGen
rs769742260 CA8909330	537	H>Y		No	ClinGen ExAC gnomAD
TCGA novel	538	Q>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA297013551 rs994590077	539	I>F		No	ClinGen TOPMed
rs751591813 CA297013546	540	T>A		No	ClinGen gnomAD
rs745837406 CA8909329	540	T>I		No	ExAC gnomAD ClinGen
CA401766879 rs1345978563	541	K>N		No	ClinGen TOPMed
rs781005940 CA401766882	541	K>R		No	ExAC TOPMed gnomAD ClinGen
CA8909328 rs781005940	541	K>T		No	ExAC TOPMed gnomAD ClinGen
rs536085387 CA297013527	542	E>G		No	gnomAD ClinGen
rs1163937616 CA401766877	542	E>Q		No	gnomAD ClinGen
CA401766865 rs1277742570	543	R>S		No	ClinGen TOPMed
CA401766868 rs1234413300	543	R>T		No	ClinGen TOPMed gnomAD
rs1349303366 CA401766864	544	G>R		No	TOPMed ClinGen
CA401766851 rs186213684	545	E>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1437198246 CA401766844	547	S>G		No	gnomAD ClinGen
CA8909325 rs779285922	550	R>G		No	ExAC gnomAD ClinGen
rs180907713 CA8909324	550	R>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs180907713 CA401766818	550	R>M		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs1220642325 CA401766816	550	R>S		No	ClinGen TOPMed
rs180907713 CA401766819	550	R>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs753995167 CA8909323	552	T>A		No	ExAC gnomAD ClinGen
CA297013420 rs267605126	554	P>S		No	ClinGen Ensembl
CA8909320 rs756614827	555	H>Y		No	ExAC TOPMed gnomAD ClinGen
rs767908977 CA8909319	556	R>S		No	ExAC gnomAD ClinGen
rs1335731740 CA401766775	557	A>S		No	ClinGen TOPMed gnomAD
rs1335731740 CA401766777	557	A>T		No	ClinGen TOPMed gnomAD
TCGA novel	558	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs762095814 CA8909317	558	P>S		No	ExAC TOPMed gnomAD ClinGen
rs1469659127 CA401766761	559	S>F		No	TOPMed ClinGen
rs1159335093 CA401766760	560	D>N		No	ClinGen TOPMed
rs1568126316 CA401766750	561	A>D		No	Ensembl ClinGen
CA8909315 rs763766696	561	A>P		No	ExAC gnomAD ClinGen
rs1325408311 CA401766747	562	G>R		No	TOPMed gnomAD ClinGen
CA401766745 rs1325408311	562	G>W		No	ClinGen TOPMed gnomAD
CA401766741 rs762397560	563	P>A		No	ExAC TOPMed gnomAD ClinGen
rs1406924592 CA401766737	563	P>L		No	TOPMed ClinGen
rs762397560 CA8909314	563	P>T		No	ClinGen ExAC TOPMed gnomAD
rs1438572795 CA401766729	565	A>S		No	ClinGen gnomAD
rs201563176 CA297013387	566	P>S		No	1000Genomes ClinGen
rs560589174 CA8909312	567	P>L		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs776449348 CA8909310	568	W>*		No	ClinGen ExAC gnomAD
CA401766710 rs770695791	568	W>*		No	ExAC TOPMed gnomAD ClinGen
rs770695791 CA8909309	568	W>C		No	ClinGen ExAC TOPMed gnomAD
CA8909308 rs746815692	570	Q>*		No	ExAC gnomAD ClinGen
CA401766699 rs746815692	570	Q>E		No	ClinGen ExAC gnomAD
rs1298764469 CA401766686	571	D>E		No	ClinGen gnomAD
rs1286750390 CA628978538	572	Y>*		No	ClinGen gnomAD
CA297013335 rs949758132	572	Y>C		No	TOPMed gnomAD ClinGen
CA401766683 rs1218873796	572	Y>H		No	gnomAD ClinGen
rs1218873796 CA401766684	572	Y>N		No	ClinGen gnomAD
TCGA novel	573	R>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8909305 rs373783585	573	R>S		No	ClinGen ESP ExAC gnomAD
CA8909306 rs768978852	573	R>T		No	ClinGen ExAC TOPMed gnomAD
CA401766645 rs1352904991	577	P>S		No	ClinGen TOPMed gnomAD
TCGA novel	580	G>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA401766624 rs1371740399	580	G>V		No	ClinGen TOPMed gnomAD
rs1240100765 CA401766605	583	Y>C		No	TOPMed ClinGen
CA8909302 rs181052498	584	P>T		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs757601978 CA401766582	587	A>P		No	ClinGen ExAC TOPMed gnomAD
rs757601978 CA8909300	587	A>S		No	ClinGen ExAC TOPMed gnomAD
rs757601978 CA8909301	587	A>T		No	ClinGen ExAC TOPMed gnomAD
rs764486842 CA401766577	588	L>F		No	ClinGen ExAC TOPMed gnomAD
CA8909298 rs764486842	588	L>V		No	ClinGen ExAC TOPMed gnomAD
CA8909296 rs752410629	589	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC gnomAD ClinGen NCI-TCGA
rs1454680319 CA401766571	589	P>S		No	gnomAD ClinGen
CA8909295 rs372467918	591	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA8909294 rs189091395	592	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8909292 rs200043127	592	R>K		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA8909291 rs760716228	592	R>S		No	ClinGen ExAC
CA8909293 rs189091395	592	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1216934922 CA401766552	593	Q>E		No	gnomAD ClinGen
rs1488136752 CA401766540	594	D>G		No	gnomAD ClinGen
CA8909290 rs372181117	595	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs772061607 CA8909289	595	R>I		No	ExAC gnomAD ClinGen
rs749511114 CA8909288	596	F>L		No	ExAC ClinGen
CA401766509 rs1568126118	599	N>D		No	ClinGen Ensembl
rs1315266681 CA401766505	599	N>I		No	ClinGen TOPMed
rs553263175 CA297013226	600	C>F		No	Ensembl ClinGen
rs780434676 CA8909286	600	C>R		No	ExAC TOPMed gnomAD ClinGen
CA8909285 rs769843721	601	A>V		No	ExAC TOPMed gnomAD ClinGen
CA8909284 rs745965014	602	R>G		No	ExAC gnomAD ClinGen
rs1025673791 CA297013219	602	R>T		No	TOPMed ClinGen
rs757679130 CA8909282	603	L>F		No	ClinGen ExAC gnomAD
rs747551167 CA8909281	603	L>R		No	ClinGen ExAC gnomAD
CA8909280 rs778103066	604	S>P		No	ExAC TOPMed gnomAD ClinGen
rs758818191 CA8909279	605	G>E		No	ExAC TOPMed gnomAD ClinGen
rs201593910 CA297013175	606	P>S		No	gnomAD ClinGen
rs752282084 CA8909278	607	A>T		No	ClinGen ExAC gnomAD
CA401766452 rs566641623	609	L>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8909275 rs566641623	609	L>P		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs754466310 CA8909276	609	L>V		No	ClinGen ExAC gnomAD
rs1476655305 CA401766443	611	S>G		No	gnomAD ClinGen
rs765953508 CA401766437 CA401766436	611	S>R		No	ClinGen ExAC gnomAD
CA8909271 rs553017486	614	M>I		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs773342667 CA401766417	614	M>K		No	ExAC gnomAD ClinGen
rs773342667 CA8909272	614	M>R		No	ClinGen ExAC gnomAD
rs375980034 CA8909273	614	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA8909270 rs761703667	615	P>T		No	ClinGen ExAC TOPMed gnomAD
rs766244235 CA8909269	616	S>F		No	ClinGen ExAC TOPMed gnomAD
rs539720541 CA8909268	618	D>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8909267 rs571595714	619	K>E		No	ClinGen 1000Genomes ExAC gnomAD
CA8909266 rs776538499	619	K>N		No	ClinGen ExAC TOPMed gnomAD
rs771104899 CA8909265	620	M>R		No	ExAC gnomAD ClinGen
CA297013059 rs1001824798	622	G>E		No	ClinGen TOPMed
rs747498099 CA8909264	622	G>R		No	ClinGen ExAC TOPMed gnomAD
rs372430144 CA8909263	623	S>L		No	ClinGen ESP ExAC gnomAD
CA8909262 rs758726068	624	M>V		No	ClinGen ExAC gnomAD
CA8909260 rs779388300	625	P>H		No	ClinGen ExAC gnomAD
CA401766347 rs779388300	625	P>L		No	ClinGen ExAC gnomAD
CA8909261 rs748538383	625	P>S		No	ClinGen ExAC TOPMed gnomAD
rs754556731 CA8909259	626	S>L		No	ExAC ClinGen
rs551761492 CA8909256	632	R>G		No	1000Genomes ExAC gnomAD ClinGen
TCGA novel	632	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA401766289 rs1380165615	633	N>K		No	TOPMed ClinGen
rs531847754 CA8909255	634	D>G		No	1000Genomes ExAC TOPMed gnomAD ClinGen
CA401766278 rs1481919007	635	T>A		No	gnomAD ClinGen
CA8909253 rs201596969	636	K>E		No	1000Genomes ExAC TOPMed gnomAD ClinGen
CA297012989 rs1053275601	636	K>R		No	TOPMed ClinGen
rs1598490224 CA401766261	637	D>E		No	ClinGen Ensembl
CA401766265 rs1198133139	637	D>G		No	ClinGen gnomAD
rs773995168 CA8909252	638	N>D		No	ClinGen ExAC TOPMed gnomAD
rs1275342430 CA401766240	641	N>D		No	gnomAD ClinGen
CA8909250 rs200484572	641	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs763985842 CA8909251	641	N>S		No	ClinGen ExAC gnomAD
CA401766230 rs1256648104	642	L>F		No	ClinGen TOPMed
CA8909249 CA401766222 rs776967162	643	K>N		No	ClinGen ExAC TOPMed gnomAD
rs1374035960 CA401766216	644	V>G		No	gnomAD ClinGen
CA401766220 rs1225348348	644	V>L		No	ClinGen TOPMed gnomAD
rs1225348348 CA401766219	644	V>M		No	TOPMed gnomAD ClinGen
rs1444024437 CA401766214	645	P>A		No	TOPMed gnomAD ClinGen
rs747125431 CA8909247	645	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1444024437 CA401766213	645	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1444024437 CA401766215	645	P>T		No	TOPMed gnomAD ClinGen
rs773663399 CA8909246	646	D>V		No	ClinGen ExAC gnomAD
CA401766198 rs1368206712	647	S>L		No	gnomAD ClinGen
rs1311368240 CA401766191	649	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1480064296 CA401766180	650	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	TOPMed ClinGen NCI-TCGA
CA401766183 rs1266619573	650	P>S		No	TOPMed ClinGen
COSM1202548 COSM1202549 CA297012906 rs538241348	651	A>T	large_intestine [Cosmic]	No	TOPMed gnomAD ClinGen cosmic curated
rs779142037 CA8909243	652	E>D		No	ClinGen ExAC TOPMed gnomAD
CA401766170 rs1451058868	652	E>G		No	TOPMed ClinGen
CA8909242 rs549615249	653	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA401766156 rs1254966385	654	E>G		No	gnomAD ClinGen
CA401766149 rs1400920070	655	A>V		No	TOPMed ClinGen
CA8909240 rs200847378	656	T>A		No	ClinGen ExAC gnomAD
CA401766145 rs200847378	656	T>S		No	ClinGen ExAC gnomAD
rs755643902 CA8909239	657	G>A		No	ClinGen ExAC gnomAD
TCGA novel	657	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8909237 rs780898304	658	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA401766124 rs1308521275	660	F>L		No	TOPMed gnomAD ClinGen
CA8909236 rs374860900	660	F>S		No	ESP ExAC TOPMed gnomAD ClinGen
CA8909235 rs199889517	661	V>I		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs987044949 CA297012842	662	P>R		No	ClinGen TOPMed
CA401766099 rs1236998948	664	P>H		No	TOPMed ClinGen
CA8909234 rs763780043	665	L>F		No	ExAC gnomAD ClinGen
rs762816904 CA8909233	666	A>T		No	ExAC TOPMed gnomAD ClinGen
CA8909232 rs766613437	667	P>A		No	ClinGen ExAC TOPMed gnomAD
CA8909230 rs184265318	667	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs766613437 CA8909231	667	P>S		No	ExAC TOPMed gnomAD ClinGen
rs202027269 CA401766082	668	I>F		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs202027269 CA8909229	668	I>V		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs772207242 CA8909228	669	R>G		No	ExAC gnomAD ClinGen
CA8909227 rs762214213	669	R>S		No	ClinGen ExAC TOPMed gnomAD
CA8909226 rs774936364	670	G>C		No	ClinGen ExAC gnomAD
CA8909222 rs563742083	671	L>S		No	1000Genomes ExAC TOPMed gnomAD ClinGen
CA297012782 rs1017310581	672	L>W		No	TOPMed ClinGen
COSM243898 CA401766044 rs1486039581	674	P>L	Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic]	No	gnomAD ClinGen cosmic curated NCI-TCGA
CA8909220 rs200294132	675	V>G		No	ExAC TOPMed gnomAD ClinGen
CA401766039 rs1214295514	675	V>L		No	gnomAD ClinGen
CA401766035 rs1233996450	676	D>H		No	TOPMed gnomAD ClinGen
rs112544817 CA8909217	677	T>A		No	ExAC TOPMed gnomAD ClinGen
CA8909216 rs200236064	677	T>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8909214 rs765060162	678	R>K		No	ClinGen ExAC TOPMed gnomAD
CA8909212 rs750702452	679	G>D		No	ExAC TOPMed gnomAD ClinGen
rs760886828 CA8909213	679	G>S		No	ExAC TOPMed gnomAD ClinGen
CA8909211 rs370961898	680	P>L		No	ESP ExAC TOPMed gnomAD ClinGen
rs1465657898 CA401766002	681	F>L		No	ClinGen gnomAD
rs1456064181 CA401766008	681	F>L		No	gnomAD ClinGen
CA401766001 rs9946136	682	I>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs61747183 RCV000957969 CA8909207	682	I>M		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen ClinVar dbSNP
CA8909209 rs9946136 VAR_046956	682	I>V		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen UniProt dbSNP
rs763417371 CA8909206	684	R>K		No	ClinGen ExAC gnomAD
CA8909204 rs763423717	685	G>A		No	ClinGen ExAC TOPMed gnomAD
COSM3796310 COSM3796309 rs775961866 CA8909205	685	G>R	Variant assessed as Somatic; 0.0001848 impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs776435484 CA8909202	686	P>L		No	ClinGen ExAC TOPMed gnomAD
rs116535043 RCV000971660 CA8909203	686	P>T		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen ClinVar dbSNP
rs1199817199 CA401765969	688	F>I		No	ClinGen TOPMed gnomAD
rs777199287 CA8909200	688	F>L		No	ExAC TOPMed gnomAD ClinGen
CA401765965 rs1184933341	688	F>S		No	gnomAD ClinGen
rs748150288 CA8909197	689	P>H		No	ExAC TOPMed gnomAD ClinGen
rs748150288 CA401765960	689	P>L		No	ClinGen ExAC TOPMed gnomAD
CA401765961 rs758325773	689	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA8909198 rs758325773	689	P>T		No	ClinGen ExAC gnomAD
rs766584848	690	P>H	Variant assessed as Somatic; 9.24e-05 impact. [NCI-TCGA]	No	NCI-TCGA
CA8909194 rs193288240	690	P>L		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA8909193 rs193288240	690	P>Q		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA401765956 rs193288240	690	P>R		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA8909195 rs754785321	690	P>S		No	ExAC gnomAD ClinGen
CA401765950 rs1335382788	691	P>L		No	ClinGen gnomAD
rs1228614699 CA401765953	691	P>S		No	ClinGen TOPMed
CA297012646 rs569260453	692	P>L		No	ClinGen 1000Genomes
rs1395967078 CA401765943	693	P>A		No	gnomAD ClinGen
CA8909191 rs757233842	693	P>L		No	ExAC gnomAD ClinGen
rs1169771779 CA401765936	694	G>A		No	TOPMed gnomAD ClinGen
CA401765934 rs1169771779	694	G>E		No	TOPMed gnomAD ClinGen
CA401765929 rs764116396	695	T>I		No	ClinGen ExAC gnomAD
CA8909189 rs764116396	695	T>N		No	ClinGen ExAC gnomAD
rs1258682748 CA401765926	696	V>G		No	ClinGen TOPMed
rs114380529 RCV000971163 CA8909188	696	V>M		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen ClinVar dbSNP
CA8909186 rs765639339	697	F>L		No	ExAC ClinGen
rs776197193 CA8909187	697	F>V		No	ExAC gnomAD ClinGen
rs781405913 CA297012611	698	G>E		No	ClinGen Ensembl
rs759982266 CA8909185	699	A>T		No	ClinGen ExAC gnomAD
CA8909184 rs776380466	699	A>V		No	ExAC TOPMed gnomAD ClinGen
CA8909181 rs548796905	701	P>R		No	1000Genomes ExAC TOPMed gnomAD ClinGen
CA8909180 rs530344089	702	D>G		No	ClinGen ExAC TOPMed gnomAD
rs1598489991 CA401765888	703	Y>D		No	ClinGen Ensembl
CA8909178 rs778830340	704	F>L		No	ClinGen ExAC gnomAD
TCGA novel	705	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8909177 rs569432026	705	S>P		No	ExAC TOPMed gnomAD ClinGen
rs779760341 CA8909175	706	P>T		No	ClinGen ExAC TOPMed gnomAD
CA401765863 rs1339264501	707	R>K		No	ClinGen gnomAD
CA401765858 rs992707715	708	D>N		No	TOPMed gnomAD ClinGen
CA297012543 rs992707715	708	D>Y		No	ClinGen TOPMed gnomAD
rs1304850332 CA401765848	709	V>A		No	ClinGen TOPMed
CA8909173 rs757466641	709	V>F		No	ExAC gnomAD ClinGen
TCGA novel	709	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1359571591 CA401765836	711	G>D		No	TOPMed ClinGen
rs1278715469 CA401765829	712	P>L		No	ClinGen TOPMed
rs758421486 CA8909170	713	P>S		No	ExAC gnomAD ClinGen
CA401765821 rs1471752985	714	R>C	Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA]	No	gnomAD ClinGen NCI-TCGA
rs373446707 CA8909167	714	R>H		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA8909168 rs373446707	714	R>L		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA401765823 rs1471752985	714	R>S		No	ClinGen gnomAD
rs1178700849 CA401765817	715	A>S		No	gnomAD ClinGen
CA8909166 rs369655419	716	P>A		No	ESP ExAC TOPMed gnomAD ClinGen
CA401765809 rs1215138705	716	P>L		No	gnomAD ClinGen
rs1211773071 CA401765798	718	A>T		No	TOPMed ClinGen
rs1290994050 CA401765790	719	M>T		No	ClinGen TOPMed gnomAD
CA401765793 rs1240025081	719	M>V		No	ClinGen TOPMed
rs1193403220 CA401765767	722	V>A		No	TOPMed ClinGen
rs760363760 CA8909163	722	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA8909162 rs772756882	723	Y>*		No	ExAC gnomAD ClinGen
CA8909160 rs761346791	725	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA8909158 rs768556331	726	R>T		No	ClinGen ExAC gnomAD
TCGA novel	729	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1017290645 CA297012459	731	Y>*		No	ClinGen TOPMed
CA401765710 rs1598489922	731	Y>C		No	ClinGen Ensembl
rs749260943 CA8909157	732	R>C		No	ClinGen ExAC TOPMed gnomAD
rs779890809 CA8909156	732	R>H		No	ClinGen ExAC TOPMed gnomAD
rs372016465 CA8909155	733	P>A		No	ESP ExAC TOPMed gnomAD ClinGen
rs372016465 CA8909153	733	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs372016465 CA8909154	733	P>T		No	ESP ExAC TOPMed gnomAD ClinGen
CA401765699 rs1298570567	734	P>A		No	ClinGen TOPMed
rs1342216573 CA401765695	734	P>L		No	ClinGen TOPMed
CA8909152 rs369191131	735	R>G		No	ESP ExAC TOPMed gnomAD ClinGen
rs1245825013 CA401765684	736	P>R		No	gnomAD ClinGen
rs1478148105 CA401765686	736	P>S		No	ClinGen gnomAD
rs1196317712 CA401765681	737	A>P		No	gnomAD ClinGen
rs1433353424 CA401765670	738	F>L		No	ClinGen TOPMed gnomAD
CA8909149 rs755538577	739	F>I		No	ExAC TOPMed gnomAD ClinGen
rs766708550 CA8909147	739	F>L		No	ClinGen ExAC TOPMed
CA8909148 rs754360939	739	F>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1489496622 CA401765661	740	P>S		No	ClinGen TOPMed
rs1489496622 CA401765663	740	P>T		No	TOPMed ClinGen
rs1283931790 CA401765654	741	P>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	gnomAD ClinGen NCI-TCGA
rs771653179	741	P>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA8909139 rs550845102	742	A>D		No	1000Genomes ExAC TOPMed ClinGen
rs550845102 CA8909140	742	A>G		No	ClinGen 1000Genomes ExAC TOPMed
rs1221082236 CA401765650	742	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	gnomAD ClinGen NCI-TCGA
CA8909141 rs550845102	742	A>V		No	ClinGen 1000Genomes ExAC TOPMed
rs773818348 CA8909137	743	P>L		No	ClinGen ExAC gnomAD
CA8909138 rs761505835	743	P>S		No	ExAC TOPMed gnomAD ClinGen
CA401765627 rs1434586573	746	F>S		No	TOPMed gnomAD ClinGen

No associated diseases with Q96RT6

No regional properties for Q96RT6

Type	Name	Position	InterPro Accession
No domain, repeats, and functional sites for Q96RT6

Functions

		Description
EC Number
Subcellular Localization	Membrane ; Single-pass membrane protein
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

3 GO annotations of cellular component

Name	Definition
endoplasmic reticulum exit site	An endoplasmic reticulum part at which COPII-coated vesicles are produced.
endoplasmic reticulum membrane	The lipid bilayer surrounding the endoplasmic reticulum.
integral component of membrane	The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.

No GO annotations of molecular function

Name	Definition
No GO annotations for molecular function

3 GO annotations of biological process

Name	Definition
endoplasmic reticulum to Golgi vesicle-mediated transport	The directed movement of substances from the endoplasmic reticulum (ER) to the Golgi, mediated by COP II vesicles. Small COP II coated vesicles form from the ER and then fuse directly with the cis-Golgi. Larger structures are transported along microtubules to the cis-Golgi.
protein secretion	The controlled release of proteins from a cell.
vesicle cargo loading	The formation of a macromolecular complex between the coat proteins and proteins and/or lipoproteins that are going to be transported by a vesicle.

1 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q96PC5	MIA2	Melanoma inhibitory activity protein 2	Homo sapiens (Human)	PR

10	20	30	40	50	60
MRPDSHPYGF	PWELVIRAAV	AGFFAVLFLW	RSFRSVTSRL	YVRREKKFAV	ALSGLIEEKC
70	80	90	100	110	120
KLLEKFSLVQ	KEYEGYEVES	SLKNASFEKE	ATEAQSLEAT	CEKLNRFNSE	LVHEILCLEK
130	140	150	160	170	180
ELKEEKSKHS	EQNELMADIS	KRIQSLEDES	KSLKSQVAEA	KMTFKRFQAN	EERLEIEIQD
190	200	210	220	230	240
AWKENSELQE	SQKQLLQEAE	VWKEQVSELI	KQKRTFEDSK	VHAEQVLNDK	ENHIKTLTER
250	260	270	280	290	300
LLKMKDGVAM	LEEDVTDDDN	LELEMNSESE	DGAYLDNPPK	GALKKLIHAA	KLNASLKTLE
310	320	330	340	350	360
GERNQIYIQL	SEVDKTKEEL	TEHIKNLQTE	QASLQSENTH	FESENQKLQQ	KLKVMTELYQ
370	380	390	400	410	420
ENEMKLYRKL	IVEEKCRLEK	EEKLSKVDEM	ISHATEELET	YRKRAKDLKE	FEKTIHFYQK
430	440	450	460	470	480
KIILHEKKAH	DNWSAAWTAE	RNLNDLRKEN	AHNRQKLTEI	EFKIKLLEKD	PYGLDVPNTA
490	500	510	520	530	540
FGRQHSPYGP	SPLGWPSSET	RASLYPPTLL	EGPLRLSPLL	PRGGGRGSRG	PGNPPDHQIT
550	560	570	580	590	600
KERGESSCDR	LTDPHRAPSD	AGPLAPPWEQ	DYRMMFPPPG	QSYPDSALPP	QRQDRFYSNC
610	620	630	640	650	660
ARLSGPAELR	SFNMPSLDKM	DGSMPSEMES	SRNDTKDNLG	NLKVPDSSLP	AENEATGPGF
670	680	690	700	710	720
VPPPLAPIRG	LLFPVDTRGP	FIRRGPPFPP	PPPGTVFGAS	PDYFSPRDVP	GPPRAPFAMR
730	740
NVYLPRGFLP	YRPPRPAFFP	PAPTF