AiPD: Autoinhibited Protein Database

Q8N163

Gene name	CCAR2 (DBC1, KIAA1967)
Protein name	Cell cycle and apoptosis regulator protein 2
Names	Cell division cycle and apoptosis regulator protein 2, DBIRD complex subunit KIAA1967, Deleted in breast cancer gene 1 protein, DBC-1, DBC.1, NET35, p30 DBC
Species	Homo sapiens (Human)
KEGG Pathway	hsa:57805
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

449-525 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

449-525 (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 Q8N163

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q8N163-F1	Predicted				AlphaFoldDB

806 variants for Q8N163

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA173869496 rs199498908	3	Q>R		No	ClinGen Ensembl
CA173869497 rs371733204	6	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA TOPMed gnomAD
rs201769711 CA4670124	10	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA4670125 rs201769711	10	N>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA370558463 rs745901830	11	P>A		No	ClinGen ExAC gnomAD
CA370558467 rs1305006974	11	P>L		No	ClinGen gnomAD
CA4670126 rs745901830	11	P>S		No	ClinGen ExAC gnomAD
TCGA novel	13	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs756323589 CA173869531	16	R>G		No	ClinGen Ensembl
rs775799558 CA4670128	17	N>D		No	ClinGen ExAC gnomAD
rs1350560312 CA370558554	17	N>S		No	ClinGen TOPMed
TCGA novel	17	N>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1286687407 CA370558581 CA370558584	18	F>L		No	ClinGen TOPMed gnomAD
CA4670154 rs759247096	20	G>A		No	ClinGen ExAC TOPMed gnomAD
rs766935794 CA4670155	21	T>A		No	ClinGen ExAC gnomAD
CA370558715 rs1281021213	22	A>T		No	ClinGen TOPMed
CA370558730 rs1563902825	23	S>A		No	ClinGen Ensembl
rs199957280 CA4670158	24	T>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA370558749 rs1308369948	24	T>I		No	ClinGen TOPMed
rs199957280 CA173869895	24	T>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA370558742 rs199957280	24	T>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1237942954 CA370558765	26	L>I		No	ClinGen TOPMed
CA173869962 rs148886727	40	T>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4670164 rs148886727	40	T>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	43	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1206001926 CA370558980	46	A>V		No	ClinGen gnomAD
rs779973235 CA4670166	49	L>F		No	ClinGen ExAC gnomAD
rs747064538 CA4670167	50	Q>P		No	ClinGen ExAC gnomAD
rs373077001 CA4670200	51	G>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4670201 rs773056649	52	G>R		No	ClinGen ExAC TOPMed gnomAD
rs376518135 CA173870591	54	K>I		No	ClinGen ESP TOPMed
rs766102406 CA4670203	56	R>Q		No	ClinGen ExAC gnomAD
TCGA novel	57	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1363104047 CA370559212	64	S>G		No	ClinGen gnomAD
CA370559234 rs1426030194	66	H>Y		No	ClinGen gnomAD
rs914805062 CA173870665	68	Y>C		No	ClinGen TOPMed
TCGA novel	76	V>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA370559355 rs1586945794	76	V>G		No	ClinGen Ensembl
TCGA novel	79	Q>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1586946094 CA370559477	83	V>G		No	ClinGen Ensembl
rs201971309 CA173870988	85	G>A		No	ClinGen 1000Genomes
TCGA novel	85	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1186988937 CA370559507	86	R>C		No	ClinGen gnomAD
CA4670228 rs754362113	86	R>H		No	ClinGen ExAC TOPMed gnomAD
CA370559509 rs754362113	86	R>P		No	ClinGen ExAC TOPMed gnomAD
rs201436030 CA173871015	99	A>T		No	ClinGen TOPMed gnomAD
rs373950913 CA370559671 CA173871046	101	N>K		No	ClinGen gnomAD
CA173871044 rs1025111509	101	N>S		No	ClinGen TOPMed gnomAD
rs970463971 CA173871048	105	A>V		No	ClinGen gnomAD
CA4670233 rs374798536	107	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA173871057 rs200416867	111	V>I		No	ClinGen Ensembl
CA370559776 rs200416867	111	V>L		No	ClinGen Ensembl
rs1270887420 CA370559855	116	L>F		No	ClinGen gnomAD
rs749221278 COSM304508 CA4670237	118	N>S	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1362483093 CA370559969	120	P>T		No	ClinGen gnomAD
CA4670259 rs771845655	124	S>F		No	ClinGen ExAC
TCGA novel	130	L>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs201601887 CA4670263	132	V>A		No	ClinGen ExAC TOPMed gnomAD
CA370560085 rs1366391795	132	V>I		No	ClinGen gnomAD
CA4670264 rs761731670	134	A>V		No	ClinGen ExAC gnomAD
CA370560120 rs1241014928	135	L>R		No	ClinGen gnomAD
CA370560216 rs1157588770	140	G>R		No	ClinGen TOPMed
rs1408860900 CA370560284	144	A>T		No	ClinGen TOPMed
rs1293381888 CA370560344	147	Q>R		No	ClinGen gnomAD
CA370560398 rs1479252145	150	F>S		No	ClinGen Ensembl
rs763622075 CA4670267	151	Q>H		No	ClinGen ExAC gnomAD
rs1162888893 CA370560405	151	Q>K		No	ClinGen TOPMed
CA173871377 rs547168885	153	H>P		No	ClinGen 1000Genomes ExAC gnomAD
CA4670268 rs547168885	153	H>R		No	ClinGen 1000Genomes ExAC gnomAD
CA173871382 rs200053550	154	R>Q		No	ClinGen Ensembl
rs752022902 CA4670269	154	R>W		No	ClinGen ExAC gnomAD
rs200881628 CA4670271	155	I>M		No	ClinGen ExAC gnomAD
CA370561032 rs1443365514	156	P>L		No	ClinGen gnomAD
CA370561050 rs1165521072	157	P>L		No	ClinGen gnomAD
CA4670274 rs202167215	159	F>L		No	ClinGen ExAC TOPMed gnomAD
CA173871421 rs1024829422	163	P>S		No	ClinGen gnomAD
rs1198973218 CA370561283	164	L>V		No	ClinGen gnomAD
rs1042426564 CA173872477	167	F>L		No	ClinGen TOPMed
rs765933621 CA4670316	169	T>S		No	ClinGen ExAC gnomAD
CA173872513 rs766896225	170	S>T		No	ClinGen Ensembl
rs1359637568 CA370561404	171	H>Q		No	ClinGen TOPMed gnomAD
rs1286594610 CA370561451	174	H>Q		No	ClinGen gnomAD
CA4670318 rs754983948	175	L>V		No	ClinGen ExAC gnomAD
TCGA novel	180	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs147413626 CA173872562	183	A>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA4670320 rs147413626	183	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA370561595 rs1212984848	184	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA4670322 rs376168583	184	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA4670325 rs779087139	186	P>L		No	ClinGen ExAC gnomAD
CA4670324 rs368650603	186	P>S		No	ClinGen ExAC
CA370561663 rs1196208022	189	R>Q		No	ClinGen TOPMed gnomAD
CA4670327 rs772579671	189	R>W		No	ClinGen ExAC TOPMed gnomAD
rs775891667 CA4670328	192	Q>R		No	ClinGen ExAC
rs747305382 CA4670329	193	G>S		No	ClinGen ExAC gnomAD
CA370561745 rs1333139379	194	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1035320960 CA173878200	197	D>G		No	ClinGen Ensembl
rs200084191 CA4670378	198	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs761610588 CA4670377	198	Y>H		No	ClinGen ExAC gnomAD
CA370562699 rs1401561169	200	S>P		No	ClinGen gnomAD
TCGA novel	201	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs773478671 CA4670379	203	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs766461055 CA4670382	206	R>G		No	ClinGen ExAC TOPMed gnomAD
rs1012069076 CA173878256	206	R>Q		No	ClinGen Ensembl
rs766461055 CA4670381	206	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1301495659 CA370562794	207	A>T		No	ClinGen TOPMed gnomAD
CA4670384 rs375489821	208	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs1328446712 CA370562805	208	G>S		No	ClinGen TOPMed gnomAD
rs994804152 CA173878294	211	P>L		No	ClinGen TOPMed gnomAD
rs994804152 CA370562851	211	P>R		No	ClinGen TOPMed gnomAD
CA4670385 rs369832533	211	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs138079032 CA4670387	214	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA4670388 rs138079032	214	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA370562985 rs1202908819	220	D>A		No	ClinGen gnomAD
rs1202908819 CA370562986	220	D>G		No	ClinGen gnomAD
CA4670390 rs192174585	220	D>H		No	ClinGen 1000Genomes ExAC TOPMed
CA370562984 rs192174585	220	D>N		No	ClinGen 1000Genomes ExAC TOPMed
rs1187618382 CA370563018	222	P>L		No	ClinGen gnomAD
rs1187618382 CA370563016	222	P>R		No	ClinGen gnomAD
rs202010928 CA173878329	223	P>A		No	ClinGen Ensembl
CA4670393 rs776694523	223	P>L		No	ClinGen ExAC gnomAD
CA370563035 rs769599381	225	R>G		No	ClinGen ExAC TOPMed gnomAD
rs200429085 CA4670396 COSM461457	225	R>Q	cervix Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA4670395 rs769599381	225	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA4670397 rs762829153	227	H>Y		No	ClinGen ExAC gnomAD
CA370563087 rs1404939923	228	L>R		No	ClinGen gnomAD
CA370563074 rs1174850076	228	L>V		No	ClinGen gnomAD
CA370563098 rs1317710585	229	T>I		No	ClinGen gnomAD
CA370563093 rs1415593803	229	T>P		No	ClinGen gnomAD
CA4670398 rs766191312	231	Y>*		No	ClinGen ExAC
CA173878342 rs886542057	231	Y>H		No	ClinGen TOPMed
CA173878353 rs1008664503	232	T>A		No	ClinGen TOPMed
CA173878354 rs201340803	233	V>A		No	ClinGen Ensembl
CA370563130 rs1563915477	233	V>M		No	ClinGen Ensembl
rs116637032 CA370563850	237	I>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4670426 rs556307922	237	I>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs201034717 CA4670425	237	I>V		No	ClinGen ExAC TOPMed gnomAD
CA4670428 rs754726967	240	F>L		No	ClinGen ExAC gnomAD
CA4670429 rs781014824	243	L>F		No	ClinGen ExAC gnomAD
rs752126428 CA173881024	244	Q>R		No	ClinGen Ensembl
rs1252438139 CA370563967	245	R>H		No	ClinGen TOPMed
CA4670431 rs755655299	246	R>C		No	ClinGen ExAC TOPMed gnomAD
rs1327983212 CA370563983	246	R>H		No	ClinGen gnomAD
CA370564022 rs1374544717	248	R>C		No	ClinGen TOPMed gnomAD
CA370564023 rs777515709	248	R>H		No	ClinGen ExAC TOPMed gnomAD
CA4670432 rs777515709	248	R>L		No	ClinGen ExAC TOPMed gnomAD
rs749308771 CA4670433	250	L>I		No	ClinGen ExAC TOPMed gnomAD
rs778724078 CA370564058	251	L>M		No	ClinGen ExAC TOPMed gnomAD
CA4670436 rs757965399	251	L>P		No	ClinGen ExAC gnomAD
rs778724078 CA4670435	251	L>V		No	ClinGen ExAC TOPMed gnomAD
CA370564071 rs1356660070	252	V>D		No	ClinGen gnomAD
TCGA novel	254	S>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1334111217 CA370564094	254	S>T		No	ClinGen gnomAD
CA173881077 rs368910038	255	D>H		No	ClinGen ESP TOPMed gnomAD
rs368910038 CA370564110	255	D>Y		No	ClinGen ESP TOPMed gnomAD
rs772238002 CA4670437	257	L>M		No	ClinGen ExAC gnomAD
rs200987523 CA173881112	258	S>C		No	ClinGen TOPMed
CA370564155 rs200987523	258	S>Y		No	ClinGen TOPMed
rs200096133 CA173881135	259	V>L		No	ClinGen ExAC TOPMed gnomAD
CA4670439 rs200096133	259	V>M		No	ClinGen ExAC TOPMed gnomAD
CA4670440 rs768836652	261	L>V		No	ClinGen ExAC gnomAD
rs1461718854 CA370564214	262	S>N		No	ClinGen TOPMed gnomAD
rs1461718854 CA370564208	262	S>T		No	ClinGen TOPMed gnomAD
CA173881173 rs201209039	263	W>C		No	ClinGen Ensembl
CA370564236 rs1167094663	264	L>V		No	ClinGen gnomAD
CA4670444 rs202200459	267	F>L		No	ClinGen 1000Genomes ESP ExAC gnomAD
CA4670446 rs374484328	268	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs147153683 CA370564294	268	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA4670445 rs147153683	268	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA4670448 rs200966293	269	L>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200966293 CA173881230	269	L>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4670447 rs767011807	269	L>V		No	ClinGen ExAC gnomAD
CA173881234 rs915979172	270	S>R		No	ClinGen TOPMed
rs976481992 CA173881240	271	Q>H		No	ClinGen TOPMed
rs1197389379 CA370564326	271	Q>K		No	ClinGen TOPMed
rs1585160203 CA370564377	274	S>P		No	ClinGen Ensembl
rs367702105 CA4670449	274	S>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA4670451 rs201163107	275	L>F		No	ClinGen ESP ExAC gnomAD
CA4670454 rs745593259	280	R>Q		No	ClinGen ExAC gnomAD
COSM266777 CA4670453 rs778848959	280	R>W	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA173881323 rs200413228	282	Q>E		No	ClinGen Ensembl
rs1421144682 CA370564575	285	S>C		No	ClinGen gnomAD
rs747321978 CA4670457	286	E>K		No	ClinGen ExAC gnomAD
CA4670458 rs79692734	287	K>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA173881326 rs953505955	288	E>K		No	ClinGen TOPMed gnomAD
rs748261240 CA370564643	289	A>E		No	ClinGen ExAC TOPMed gnomAD
rs748261240 CA4670460	289	A>G		No	ClinGen ExAC TOPMed gnomAD
CA173881343 rs199824564	289	A>T		No	ClinGen Ensembl
rs577189114 CA173881371	290	A>S		No	ClinGen Ensembl
CA4670461 rs770385501	291	P>A		No	ClinGen ExAC gnomAD
CA370564681 rs200740265	292	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA4670462 rs200740265	292	D>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA4670466 rs766826982	293	A>G		No	ClinGen ExAC gnomAD
CA4670465 rs763354084	293	A>T		No	ClinGen ExAC TOPMed gnomAD
CA4670467 rs775003960	295	A>V		No	ClinGen ExAC gnomAD
rs1310946189 CA370564756	296	E>K		No	ClinGen gnomAD
CA4670469 rs143895597	298	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs753300118 CA4670470	299	T>I		No	ClinGen ExAC gnomAD
CA173881424 rs139429182	303	D>E		No	ClinGen ESP TOPMed gnomAD
CA370564931 rs1563917412	304	P>S		No	ClinGen Ensembl
CA173881448 rs1042702890	305	A>D		No	ClinGen Ensembl
rs1011317024 CA173881441	305	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
TCGA novel	308	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	309	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA370565111 rs1348451185	310	V>L		No	ClinGen gnomAD
rs146613613 CA4670499	313	L>I		No	ClinGen ESP ExAC gnomAD
rs201922969 CA370565188	315	S>F		No	ClinGen gnomAD
CA173881672 rs201922969	315	S>Y		No	ClinGen gnomAD
rs140105800 CA173881676	316	P>L		No	ClinGen ESP gnomAD
TCGA novel	317	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1247129273 CA370565246	318	L>W		No	ClinGen gnomAD
CA4670503 rs749739701	320	E>V		No	ClinGen ExAC gnomAD
CA4670504 CA370565319 rs201418983	321	L>F		No	ClinGen ExAC TOPMed gnomAD
CA370565331 rs1563917773	322	Y>H		No	ClinGen Ensembl
CA4670505 rs933262863	323	R>C		No	ClinGen gnomAD
rs1402896131 CA370565362	323	R>H		No	ClinGen Ensembl
rs201028979 CA4670507	324	C>W		No	ClinGen ExAC TOPMed gnomAD
rs1181222642 CA370565403	325	C>F		No	ClinGen gnomAD
CA370565418 rs1180815168	326	M>L		No	ClinGen TOPMed gnomAD
rs1180815168 CA370565420	326	M>V		No	ClinGen TOPMed gnomAD
rs746181327 CA4670508	327	L>F		No	ClinGen ExAC TOPMed gnomAD
rs746181327 CA4670509	327	L>V		No	ClinGen ExAC TOPMed gnomAD
rs1406793335 CA370565459	328	F>L		No	ClinGen gnomAD
rs776259412 CA4670510	328	F>S		No	ClinGen ExAC gnomAD
CA4670511 rs761491596	330	D>Y		No	ClinGen ExAC gnomAD
rs200495568 CA173881786	331	D>E		No	ClinGen 1000Genomes ExAC TOPMed
CA4670514 rs762400398	335	P>R		No	ClinGen ExAC gnomAD
CA173881810 rs866988858	335	P>S		No	ClinGen TOPMed
CA370566270 rs866988858	335	P>T		No	ClinGen TOPMed
CA4670515 rs766273077	336	R>G		No	ClinGen ExAC gnomAD
rs373057366 CA4670516	336	R>K		No	ClinGen ESP ExAC TOPMed
CA4670518 rs199827847	338	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA4670520 rs756456819	339	P>R		No	ClinGen ExAC gnomAD
TCGA novel	339	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4670521 rs377586982	340	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1317085028 CA370566406	344	K>N		No	ClinGen gnomAD
rs779456957 CA4670524	345	Q>H		No	ClinGen ExAC gnomAD
CA4670523 rs369130212	345	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs746405118 CA4670525	346	I>F		No	ClinGen ExAC gnomAD
rs1186208098 CA370566442	346	I>M		No	ClinGen gnomAD
rs1314468512 CA370566600	348	F>L		No	ClinGen gnomAD
CA4670623 rs763226736	351	G>V		No	ClinGen ExAC gnomAD
rs1227462906 CA370566672	353	K>E		No	ClinGen TOPMed
CA4670626 rs759663422	354	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs767868544 CA4670629	355	E>K		No	ClinGen ExAC gnomAD
CA4670630 rs184739367	356	E>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs760921904 CA4670631	356	E>D		No	ClinGen ExAC gnomAD
CA370566735 rs184739367	356	E>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA173882522 rs765823801	357	A>V		No	ClinGen Ensembl
rs148954111 CA4670632	358	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1421213371 CA370566772	360	V>A		No	ClinGen gnomAD
rs750090786 CA4670633	363	E>A		No	ClinGen ExAC gnomAD
rs750726126 CA173882523	365	S>F		No	ClinGen Ensembl
CA370566834 rs1163656760	366	P>A		No	ClinGen TOPMed
rs779859682 CA4670635	368	L>V		No	ClinGen ExAC gnomAD
rs527350374 CA4670639	372	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs527350374 CA4670638	372	D>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4670640 rs202188636	373	P>A		No	ClinGen ExAC gnomAD
rs200408310 CA173882548	373	P>H		No	ClinGen Ensembl
CA370566909 rs1342792903	374	Q>H		No	ClinGen TOPMed gnomAD
rs777601262 CA4670641	377	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1585161392 CA370566963	379	V>G		No	ClinGen Ensembl
CA4670643 rs771072971	381	V>M		No	ClinGen ExAC gnomAD
rs774584079 CA4670644	382	R>C		No	ClinGen ExAC gnomAD
CA173882568 rs948374385 COSM1569111	382	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs368135137 CA4670646	384	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA4670647 rs368135137 COSM1098131	384	A>T	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA370567009 rs1293737587	385	I>M		No	ClinGen TOPMed
CA370567013 rs1246609240	386	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs371594247 CA4670648	387	C>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs375367253 CA173882603	388	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs375367253 CA4670649	388	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA370567038 rs1177595179	389	Q>K		No	ClinGen gnomAD
rs201320219 CA4670651	389	Q>R		No	ClinGen ExAC gnomAD
rs766081775 CA4670652	393	G>A		No	ClinGen ExAC gnomAD
rs1362075665 CA370567077	393	G>R		No	ClinGen TOPMed
rs199504395 CA173882628	394	I>T		No	ClinGen Ensembl
CA173882635 rs200584294	398	G>S		No	ClinGen TOPMed gnomAD
CA4670653 rs201473135	400	T>A		No	ClinGen ExAC TOPMed gnomAD
CA173882641 rs199704953 COSM1098132	400	T>I	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes NCI-TCGA gnomAD
rs201473135 CA4670654	400	T>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	401	K>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs147002132 CA4670656	401	K>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1166163992 CA370567226	402	W>*		No	ClinGen gnomAD
rs1400188966 CA370567244	404	R>C		No	ClinGen gnomAD
rs1199886350 CA370567246	404	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA173883382 rs941008544	406	A>T		No	ClinGen Ensembl
CA4670689 rs150957244	406	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs200374999 CA4670691	407	E>K		No	ClinGen ExAC TOPMed gnomAD
CA370567288 rs748733349 CA4670692	408	F>L		No	ClinGen ExAC TOPMed gnomAD
rs1439924147 CA370567290	409	Q>K		No	ClinGen TOPMed
rs770269202 CA4670693	409	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs200942511 CA4670694	410	Y>H		No	ClinGen 1000Genomes ExAC gnomAD
CA4670696 rs145928227	412	Q>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs775024666 CA4670697	413	P>A		No	ClinGen ExAC gnomAD
CA4670699 rs138544051	413	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs138544051 CA173883441	413	P>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA4670700 rs138544051	413	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs775024666 CA4670698	413	P>S		No	ClinGen ExAC gnomAD
rs1218201929 CA370567333	414	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs765095345 CA370567346	415	P>H		No	ClinGen ExAC TOPMed gnomAD
CA4670703 rs765095345	415	P>L		No	ClinGen ExAC TOPMed gnomAD
CA173883487 rs942826910	415	P>S		No	ClinGen gnomAD
rs942826910 CA370567342	415	P>T		No	ClinGen gnomAD
CA4670704 rs750195603	416	P>R		No	ClinGen ExAC TOPMed gnomAD
rs756536005	417	R>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs756536005	417	R>P	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA173883498 rs748279690	417	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA370567359 rs1477093225	417	R>W		No	ClinGen TOPMed gnomAD
rs149267963 CA4670706	418	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM1098133 rs200285926 CA4670705	418	R>W	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA370567373 rs1413950816	419	L>F		No	ClinGen gnomAD
rs773723993 CA173883524	419	L>P		No	ClinGen gnomAD
CA173883526 rs945661076	420	Q>H		No	ClinGen TOPMed
CA4670708 rs751873480	421	T>I		No	ClinGen ExAC
rs1460015130 CA370567777	422	V>A		No	ClinGen TOPMed
CA4670709 rs755104363	423	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA370567803 rs1415699098	424	V>G		No	ClinGen gnomAD
CA370567813 rs1585162177	425	Y>F		No	ClinGen Ensembl
CA370567826 rs1313195163	426	L>V		No	ClinGen gnomAD
rs144451284 CA4670711 COSM1212319	427	P>L	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs781481003 CA4670710	427	P>S		No	ClinGen ExAC gnomAD
rs201893255 CA4670714	428	D>N		No	ClinGen ExAC gnomAD
rs201893255 CA173883592	428	D>Y		No	ClinGen ExAC gnomAD
rs1375282367 CA370567891	431	T>A		No	ClinGen TOPMed
CA370567900 rs1563920406	432	I>V		No	ClinGen Ensembl
CA173883593 rs763386289	433	M>T		No	ClinGen gnomAD
rs1563920422 CA370567937	434	P>R		No	ClinGen Ensembl
rs775175182 CA4670716	435	T>A		No	ClinGen ExAC TOPMed gnomAD
CA370567950 rs1262856540	435	T>S		No	ClinGen gnomAD
rs1487531854 CA370567960	436	L>S		No	ClinGen gnomAD
rs760383790 CA4670717	437	E>D		No	ClinGen ExAC gnomAD
rs200718047 CA173883622	443	C>Y		No	ClinGen TOPMed
CA173883627 rs906494916	445	Q>H		No	ClinGen TOPMed gnomAD
CA370568101 rs1396973800	446	K>E		No	ClinGen gnomAD
CA370568110 rs1435509112	446	K>I		No	ClinGen gnomAD
CA4670721 rs201897291	447	A>P		No	ClinGen ExAC gnomAD
CA4670722 rs200105495	447	A>V		No	ClinGen ExAC TOPMed gnomAD
CA4670723 rs143064291	449	E>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA370568169 rs1585162303	451	A>G		No	ClinGen Ensembl
CA173883657 rs201715821	451	A>P		No	ClinGen Ensembl
CA4670725 rs751819026	452	P>L		No	ClinGen ExAC gnomAD
rs766153722 CA4670724	452	P>S		No	ClinGen ExAC TOPMed gnomAD
rs755192267 CA4670726	453	P>A		No	ClinGen ExAC TOPMed gnomAD
rs752783076 CA370568206	454	T>A		No	ClinGen ExAC gnomAD
CA370568213 rs1284830972	454	T>I		No	ClinGen gnomAD
rs752783076 CA4670728	454	T>P		No	ClinGen ExAC gnomAD
rs778318379 CA4670730	456	E>G		No	ClinGen ExAC gnomAD
CA370568258 rs1163160490	457	A>V		No	ClinGen TOPMed
CA370568273 rs1451471532	458	Q>H		No	ClinGen gnomAD
CA370568260 rs1285481602	458	Q>K		No	ClinGen gnomAD
CA173883706 rs979809220	459	G>R		No	ClinGen Ensembl
CA370568353 rs1585162495	460	E>K		No	ClinGen Ensembl
CA4670759 rs372863532	461	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1336010966 CA370568399	463	P>R		No	ClinGen gnomAD
CA370568391 rs1295568035	463	P>S		No	ClinGen gnomAD
rs989647103 CA173883960	464	T>I		No	ClinGen TOPMed
CA370568452 rs1563920935	467	A>E		No	ClinGen Ensembl
CA370568455 rs1563920935	467	A>V		No	ClinGen Ensembl
rs1221385644 CA370568471	468	P>L		No	ClinGen TOPMed
CA4670765 RCV000963645 rs147092133	469	D>Y		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA370568495 rs1246673213	470	A>T		No	ClinGen TOPMed
CA173884000 rs905661663	471	L>V		No	ClinGen Ensembl
rs1306388624 CA370568523	472	E>K		No	ClinGen TOPMed
TCGA novel	473	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1292892250 CA370568538	473	Q>E		No	ClinGen TOPMed
rs1215953367 CA370568562	474	A>G		No	ClinGen TOPMed
rs1563921037 CA370568579	475	A>G		No	ClinGen Ensembl
rs1302166398 CA370568592	476	D>E		No	ClinGen TOPMed
rs1475463660 CA370568598	477	T>A		No	ClinGen TOPMed gnomAD
CA4670769 rs757382775	477	T>I		No	ClinGen ExAC gnomAD
rs1475463660 CA370568597	477	T>P		No	ClinGen TOPMed gnomAD
CA4670770 rs529600420	478	S>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs529600420 CA173884030	478	S>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA370568630 rs1463045442	479	R>T		No	ClinGen gnomAD
CA173884041 rs201915098	480	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA4670773 rs201915098	480	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA4670774 rs201915098	480	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
COSM1098134 rs200784385 CA4670772	480	R>W	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs748696165 CA370568669	482	A>S		No	ClinGen ExAC gnomAD
rs748696165 CA4670777	482	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA370568694 rs1424665443	484	T>A		No	ClinGen TOPMed
rs774399424 CA4670780	486	E>D		No	ClinGen ExAC gnomAD
CA4670778 rs770614489	486	E>K		No	ClinGen ExAC gnomAD
rs1470853175 CA370568728	487	A>T		No	ClinGen TOPMed gnomAD
rs200218662 CA4670782	488	T>A		No	ClinGen 1000Genomes ESP ExAC gnomAD
rs760519512 CA4670783	488	T>I		No	ClinGen ExAC gnomAD
CA4670781 rs200218662	488	T>S		No	ClinGen 1000Genomes ESP ExAC gnomAD
CA4670786 rs761770970	489	T>A		No	ClinGen ExAC TOPMed gnomAD
rs1005631499 CA173884100	489	T>K		No	ClinGen TOPMed
rs201812529 CA173884111	492	E>D		No	ClinGen TOPMed gnomAD
CA370568804 rs765368730	492	E>K		No	ClinGen ExAC TOPMed gnomAD
rs765368730 CA4670787	492	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs377024071 CA370568822	493	T>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs377024071 CA4670788	493	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs766877334 CA4670790	494	D>G		No	ClinGen ExAC TOPMed gnomAD
CA173884139 rs201254711	495	T>A		No	ClinGen TOPMed gnomAD
rs1563921285 CA370568856	495	T>I		No	ClinGen Ensembl
rs755390773 CA4670792	498	P>L		No	ClinGen ExAC gnomAD
CA370568892 rs1432424529	498	P>S		No	ClinGen gnomAD
rs896944717 CA173884156	500	A>G		No	ClinGen TOPMed gnomAD
rs1391318367 CA370568926	501	P>L		No	ClinGen TOPMed
CA173884165 rs201751211	502	P>S		No	ClinGen Ensembl
CA370568949 rs1287548545	503	P>A		No	ClinGen gnomAD
CA370568953 rs1364694653	503	P>L		No	ClinGen TOPMed gnomAD
rs1287548545 CA370568951	503	P>S		No	ClinGen gnomAD
CA370568947 rs1287548545	503	P>T		No	ClinGen gnomAD
rs150000557 CA370568962	504	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA4670795 rs778840164	504	P>H		No	ClinGen ExAC TOPMed gnomAD
rs778840164 CA370568967	504	P>L		No	ClinGen ExAC TOPMed gnomAD
rs778840164 CA4670796	504	P>R		No	ClinGen ExAC TOPMed gnomAD
rs150000557 CA173884184	504	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs150000557 CA4670794	504	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1248272283 CA370568978	505	L>P		No	ClinGen TOPMed
rs748274275	505	L>P	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs1280225975	505	L>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs201931636 CA173884194	507	P>R		No	ClinGen Ensembl
rs780066409 CA4670800	508	A>T		No	ClinGen ExAC TOPMed gnomAD
CA370569019 rs746760715	509	V>I		No	ClinGen ExAC gnomAD
CA4670801 rs746760715	509	V>L		No	ClinGen ExAC gnomAD
CA370569041 rs143313961	510	I>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4670802 rs768540507	510	I>V		No	ClinGen ExAC gnomAD
rs549430841 CA370569046	511	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4670804 rs549430841	511	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4670805 rs770017667	512	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs201363003 CA4670807 COSM1098135	512	R>H	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA4670806 rs201363003	512	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs201363003 CA370569061	512	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA370569055 rs770017667	512	R>S		No	ClinGen ExAC TOPMed gnomAD
CA4670808 rs766746669	513	P>L		No	ClinGen ExAC TOPMed gnomAD
CA173884248 rs766746669	513	P>R		No	ClinGen ExAC TOPMed gnomAD
CA370569102 rs1451997822	515	C>W		No	ClinGen gnomAD
rs759788141 CA4670810	516	V>A		No	ClinGen ExAC gnomAD
CA4670809 rs200635898	516	V>I		No	ClinGen 1000Genomes ExAC gnomAD
CA4670811 rs142316074	518	L>M		No	ClinGen ESP ExAC gnomAD
rs1454717557 CA370569159	519	S>F		No	ClinGen gnomAD
rs766511745 CA173884293	520	L>F		No	ClinGen Ensembl
CA370569185 rs1382107641	521	H>R		No	ClinGen TOPMed
CA370569180 rs1392528669	521	H>Y		No	ClinGen TOPMed
rs917888813 CA173884308	522	G>V		No	ClinGen TOPMed
rs1439494669 CA370569223	524	V>M		No	ClinGen TOPMed gnomAD
rs749909152 CA4670815	527	R>G		No	ClinGen ExAC TOPMed gnomAD
rs1585162991 CA370569269	527	R>Q		No	ClinGen Ensembl
rs749909152 CA173884316	527	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1452740086 CA370569346	532	R>S		No	ClinGen TOPMed
CA4670843 CA173884570 rs781025516	538	M>I		No	ClinGen ExAC TOPMed gnomAD
rs540628326 CA173884574	539	V>L		No	ClinGen 1000Genomes
CA173884583 rs200880504	541	A>T		No	ClinGen Ensembl
CA4670847 rs749577380	542	E>A		No	ClinGen ExAC TOPMed gnomAD
COSM1699808 rs777938806 CA4670846	542	E>K	skin [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs770901844 CA4670848	543	L>V		No	ClinGen ExAC
rs1307655510 CA370569622	548	L>F		No	ClinGen gnomAD
CA4670850 rs745935547	552	F>C		No	ClinGen ExAC TOPMed gnomAD
CA4670852 rs776160124	554	Y>C		No	ClinGen ExAC gnomAD
CA4670853 rs371679730	555	R>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA370569742 rs1188287040	557	Y>C		No	ClinGen gnomAD
CA4670854 rs764622331	557	Y>H		No	ClinGen ExAC gnomAD
CA370569754 rs1420333951	558	K>R		No	ClinGen gnomAD
rs765952911 CA4670858	561	L>M		No	ClinGen ExAC gnomAD
rs765952911 CA4670857	561	L>V		No	ClinGen ExAC gnomAD
CA173884728 rs1006775910	562	S>N		No	ClinGen TOPMed
CA4670860 CA4670861 rs200118469	566	K>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4670862 rs755898345	567	V>F		No	ClinGen ExAC TOPMed
CA370569853 rs755898345	567	V>I		No	ClinGen ExAC TOPMed
CA4670864 CA370569868 rs201261640	568	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs201261640 CA4670863	568	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA173884763 rs866120263	569	S>F		No	ClinGen gnomAD
CA4670866 rs202009411	570	P>L		No	ClinGen ExAC TOPMed gnomAD
CA4670867 rs202009411	570	P>Q		No	ClinGen ExAC TOPMed gnomAD
rs1563922323 CA370569943	574	E>Q		No	ClinGen Ensembl
CA173884783 rs200426159	575	K>E		No	ClinGen ExAC
rs200426159 CA4670870	575	K>Q		No	ClinGen ExAC
rs143150726 CA4670873	577	E>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA370569990 rs747580810	577	E>K		No	ClinGen ExAC gnomAD
CA4670872 rs747580810	577	E>Q		No	ClinGen ExAC gnomAD
CA370569999 rs143150726	577	E>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs201308570 CA173884841	578	A>E		No	ClinGen ExAC TOPMed gnomAD
rs148238305 CA370570008	578	A>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs148238305 CA4670874	578	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs201308570 CA4670875	578	A>V		No	ClinGen ExAC TOPMed gnomAD
CA4670877 rs773925937	579	A>V		No	ClinGen ExAC TOPMed gnomAD
rs767079535 CA4670882	581	E>K		No	ClinGen ExAC gnomAD
rs1045115544 CA173884875	582	E>D		No	ClinGen TOPMed
CA370570051 rs1476618997	582	E>K		No	ClinGen gnomAD
rs1454923266 CA370570069	583	A>T		No	ClinGen gnomAD
rs1172880495 CA370570080	584	T>A		No	ClinGen gnomAD
rs201588612 CA173884886	585	K>R		No	ClinGen 1000Genomes TOPMed
CA370570130 rs1320165705	587	E>K		No	ClinGen gnomAD
rs764019916 CA4670885	588	E>K		No	ClinGen ExAC gnomAD
COSM336293 rs1038295423 CA173884943	591	K>E	lung [Cosmic]	No	ClinGen cosmic curated Ensembl
rs199673622 CA4670889	593	E>V		No	ClinGen ExAC TOPMed gnomAD
CA370570258 rs898292687	594	V>A	Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA173884959 rs898292687	594	V>E		No	ClinGen gnomAD
rs1427638341 CA370570261	595	V>I		No	ClinGen TOPMed
rs750680905 CA4670890	596	K>E		No	ClinGen ExAC gnomAD
rs200836735 CA173884974	596	K>N		No	ClinGen Ensembl
rs758495491 CA4670891	596	K>R		No	ClinGen ExAC gnomAD
rs780228847 CA4670892	597	E>D		No	ClinGen ExAC gnomAD
CA4670893 rs747090292	598	P>H		No	ClinGen ExAC gnomAD
rs1469032567 CA370570341	599	K>N		No	ClinGen TOPMed gnomAD
rs1439609359 CA370570383	602	A>V		No	ClinGen TOPMed
rs59511580 CA4670895	603	Q>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA370570402 rs1203264156	604	N>H		No	ClinGen TOPMed
CA173885008 rs200588234	605	E>K		No	ClinGen Ensembl
CA370570439 rs1167201647	606	G>A		No	ClinGen gnomAD
rs201457211 CA173885010	606	G>S		No	ClinGen Ensembl
CA4670897 rs142397736	607	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA370570450 rs142397736	607	P>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs142397736 CA4670898	607	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA370570466 rs202065330	608	A>G		No	ClinGen ESP ExAC gnomAD
CA4670900 rs202065330	608	A>V		No	ClinGen ESP ExAC gnomAD
rs200095861 CA4670901	609	T>A		No	ClinGen ExAC gnomAD
rs1226280383 CA370570476	609	T>I		No	ClinGen Ensembl
rs760205992 CA4670902	611	S>L		No	ClinGen ExAC gnomAD
CA370570521 rs1327730002	612	E>G		No	ClinGen gnomAD
rs1386952077 CA370570514	612	E>Q		No	ClinGen gnomAD
CA4670903 rs763967146	613	A>T		No	ClinGen ExAC gnomAD
CA4670904 rs753766277	613	A>V		No	ClinGen ExAC gnomAD
rs201937205 CA4670907	614	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs201937205 CA4670908	614	P>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4670906 rs765003121	614	P>S		No	ClinGen ExAC gnomAD
rs139030883 CA4670945	616	K>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4670946 rs774700039	616	K>N		No	ClinGen ExAC gnomAD
rs900480519 CA173886799	616	K>R		No	ClinGen Ensembl
rs1175329858 CA370570989	617	E>G		No	ClinGen TOPMed
rs996149715 CA173886800	618	D>Y		No	ClinGen TOPMed
rs202245712 CA173886802	619	G>A		No	ClinGen TOPMed gnomAD
TCGA novel	620	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1563925164 CA370571012	620	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs1193716441 CA370571026	621	L>F		No	ClinGen TOPMed
CA370571030 rs1401030741	622	P>S		No	ClinGen TOPMed gnomAD
rs759771982 CA4670947	623	K>Q		No	ClinGen ExAC gnomAD
rs200080724 CA173886829	623	K>R		No	ClinGen TOPMed
CA173886830 rs1028638252	624	P>L		No	ClinGen TOPMed gnomAD
CA370571051 rs1452189041	625	L>P		No	ClinGen gnomAD
TCGA novel	626	S>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA370571054 rs1255900922	626	S>P		No	ClinGen TOPMed
CA4670950 rs530753672	628	G>V		No	ClinGen 1000Genomes ExAC gnomAD
CA370571066 rs1208715092	628	G>W		No	ClinGen TOPMed
TCGA novel	629	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs764486010 CA4670952	629	G>E		No	ClinGen ExAC TOPMed gnomAD
rs764486010 CA4670951	629	G>V		No	ClinGen ExAC TOPMed gnomAD
rs201154111 CA173886896	630	E>G		No	ClinGen TOPMed
rs757612519 CA4670953	632	E>A		No	ClinGen ExAC gnomAD
CA370571104 rs1585165476	633	E>Q		No	ClinGen Ensembl
rs750792397 CA4670955	634	K>E		No	ClinGen ExAC gnomAD
rs200378794 CA173886926	635	P>L		No	ClinGen TOPMed gnomAD
rs200378794 CA370571130	635	P>R		No	ClinGen TOPMed gnomAD
rs754546918 CA4670956	635	P>T		No	ClinGen ExAC TOPMed gnomAD
rs747592725 CA4670958	636	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA173886965 rs201842111	636	R>W		No	ClinGen ExAC TOPMed
rs1208732137 CA370571154	638	E>D		No	ClinGen gnomAD
rs777851813 CA4670960	638	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs201376215 CA173887002	640	S>P		No	ClinGen TOPMed
rs199827642 CA4670961	641	E>D		No	ClinGen ExAC TOPMed gnomAD
rs561188685 CA370571193	642	D>E		No	ClinGen 1000Genomes TOPMed
CA370571210 rs1160901456	644	C>S		No	ClinGen TOPMed
CA173887037 rs995130173	646	M>I		No	ClinGen TOPMed
CA4670962 rs202018056	646	M>V		No	ClinGen 1000Genomes ExAC gnomAD
rs1255983681 CA370571241	647	A>G		No	ClinGen TOPMed
rs1020824348 CA173887039	647	A>T		No	ClinGen gnomAD
TCGA novel	649	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA370571260 rs1180486396	649	D>V		No	ClinGen TOPMed
CA173888352 rs372091834	654	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA4670964 rs372091834	654	L>I		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	655	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4670965 rs147744400	655	L>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1164234008 CA370571549	656	R>S		No	ClinGen gnomAD
CA370571544 rs1262696002	656	R>T		No	ClinGen TOPMed
CA370571550 rs1392406053	657	D>N		No	ClinGen gnomAD
CA4670969 rs760638912	660	E>D		No	ClinGen ExAC gnomAD
rs201118681 CA173888629	665	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs775568880 CA4670992	666	A>V		No	ClinGen ExAC gnomAD
CA370571725 rs1210684182	669	E>Q		No	ClinGen gnomAD
CA4670993 rs761013874	671	S>L	Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA4670995 rs776652812	674	R>G		No	ClinGen ExAC TOPMed gnomAD
CA4670996 rs79906777	674	R>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA173888658 rs776652812	674	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs773753107 CA4670998	676	V>I		No	ClinGen ExAC gnomAD
rs1373481071 CA370571820	679	N>D		No	ClinGen gnomAD
CA370571834 rs1375305549	680	Q>P		No	ClinGen TOPMed
rs1365683758 CA370571846	681	S>A		No	ClinGen TOPMed gnomAD
TCGA novel	682	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA370571880 rs1360702499	683	M>I		No	ClinGen TOPMed gnomAD
CA173888694 rs994696998	686	S>C		No	ClinGen TOPMed
rs755722502 CA4671002	688	L>F		No	ClinGen ExAC gnomAD
CA173888711 rs200771838	691	M>V		No	ClinGen Ensembl
CA4671037 rs573098286	692	P>H		No	ClinGen 1000Genomes ExAC gnomAD
CA173889387 rs200733148	692	P>S		No	ClinGen Ensembl
TCGA novel	694	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs953679540 CA173889440	696	D>G		No	ClinGen TOPMed
rs201945562 CA4671040	697	P>A		No	ClinGen ExAC TOPMed gnomAD
CA370572142 rs1230798809	697	P>L		No	ClinGen TOPMed gnomAD
rs774765028 CA4671041	698	S>C		No	ClinGen ExAC gnomAD
CA370572153 COSM224340 rs774765028	698	S>F	skin [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA370572170 rs1334215279	700	V>L		No	ClinGen TOPMed gnomAD
CA370572167 rs1334215279	700	V>M		No	ClinGen TOPMed gnomAD
rs1262677289 CA370572181	701	L>F		No	ClinGen TOPMed
CA173889464 rs375549885	701	L>H		No	ClinGen ESP gnomAD
rs1292280047 CA370572190	702	P>A		No	ClinGen gnomAD
rs772630617 CA4671043	707	L>F		No	ClinGen ExAC gnomAD
rs1412679569 CA370572299	710	V>M		No	ClinGen TOPMed gnomAD
CA370572323 rs1460453631	711	F>V		No	ClinGen gnomAD
CA370572394 rs1161018288	716	W>C		No	ClinGen gnomAD
rs990221580 CA173889489	719	Y>C		No	ClinGen Ensembl
rs764831045 CA4671046	721	H>D		No	ClinGen ExAC gnomAD
rs201891023 CA370572451	722	R>P		No	ClinGen ExAC TOPMed gnomAD
rs201891023 CA4671047	722	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs200732281 CA173889519	722	R>W		No	ClinGen gnomAD
rs1286091011 CA370572457	723	R>*		No	ClinGen gnomAD
CA370572462 rs1312873732	723	R>Q		No	ClinGen TOPMed
CA173889577 rs576095750	724	D>E		No	ClinGen TOPMed
CA4671050 rs751521846	726	E>Q		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	726	E>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4671051 rs754758657	727	R>K		No	ClinGen ExAC gnomAD
rs752496629 CA4671053	728	I>V		No	ClinGen ExAC TOPMed gnomAD
rs777877604 CA4671055	730	L>H		No	ClinGen ExAC gnomAD
CA4671056 rs749361155	731	T>A		No	ClinGen ExAC gnomAD
CA370572567 rs1166915924	732	L>F		No	ClinGen gnomAD
rs1166915924 CA370572565	732	L>V		No	ClinGen gnomAD
rs779469310 CA4671058	733	G>E		No	ClinGen ExAC gnomAD
rs1431948863 CA370572587	734	I>V		No	ClinGen gnomAD
rs772718225 CA4671060	735	R>Q		No	ClinGen ExAC gnomAD
rs201102472 CA4671059	735	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1314907302 CA370572624	737	S>C		No	ClinGen TOPMed gnomAD
CA370572670 rs1226816987	739	E>D		No	ClinGen gnomAD
rs566681029 CA173889956	741	A>V		No	ClinGen gnomAD
rs1325414591 CA370572931	742	K>N		No	ClinGen gnomAD
CA4671091 rs767416995	743	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA370572951 rs1302424577	746	S>G		No	ClinGen TOPMed gnomAD
CA370572963 rs1236980977	747	R>S		No	ClinGen TOPMed
CA4671093 rs760510952	748	V>A		No	ClinGen ExAC gnomAD
CA370572969 rs760510952	748	V>G		No	ClinGen ExAC gnomAD
CA370572976 rs1227756586	750	T>P		No	ClinGen gnomAD
rs1227756586 CA370572978	750	T>S		No	ClinGen gnomAD
CA4671096 rs200620512	751	Q>P		No	ClinGen ExAC TOPMed gnomAD
rs200620512 CA370572985	751	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA173889983 rs1014365873	752	N>H		No	ClinGen TOPMed
rs750509852 CA4671098	753	I>V		No	ClinGen ExAC gnomAD
rs1268556230 CA370573016	755	Q>R		No	ClinGen gnomAD
CA370573027 rs1585167231	756	Y>S		No	ClinGen Ensembl
rs758593640 CA370573035	757	R>G		No	ClinGen ExAC TOPMed gnomAD
CA4671100 rs201437065	757	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs758593640 CA4671099	757	R>W		No	ClinGen ExAC TOPMed gnomAD
CA370573060 rs1414865695	759	L>R		No	ClinGen gnomAD
CA4671101 rs200647365 CA173890025	760	Q>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA370573099 rs1459690274	763	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs201097172 CA4671103	763	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs200094561 CA173890051	765	E>D		No	ClinGen gnomAD
rs1286321919 CA370573136	766	G>V		No	ClinGen gnomAD
CA4671104 rs748579016	770	G>V		No	ClinGen ExAC TOPMed gnomAD
rs1311463420 CA370573193	772	P>L		No	ClinGen gnomAD
rs1319530949 CA370573198	773	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs148552616 CA370573212	774	E>A		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	774	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs148552616 CA4671107	774	E>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA173890059 rs200435223	775	V>A		No	ClinGen Ensembl
CA370573220 rs1265694764	775	V>M		No	ClinGen gnomAD
CA4671109 rs745346766	776	L>F		No	ClinGen ExAC gnomAD
rs202127408 CA370573252	778	G>*		No	ClinGen ExAC gnomAD
rs202127408 COSM2786351 CA4671111	778	G>R	kidney [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1035792763 CA173890293	779	N>S		No	ClinGen Ensembl
rs200100273 CA370573327	782	L>V		No	ClinGen Ensembl
rs1316427296 CA370573337	783	L>P		No	ClinGen TOPMed
CA370573345 rs767876821	784	P>H		No	ClinGen ExAC TOPMed gnomAD
CA4671144 rs767876821	784	P>L		No	ClinGen ExAC TOPMed gnomAD
RCV000911486 rs150629840 CA4671146	785	P>A		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA370573351 rs758003360	785	P>H		No	ClinGen ExAC gnomAD
CA4671149 rs758003360	785	P>L		No	ClinGen ExAC gnomAD
rs150629840 CA4671147	785	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs150629840 CA4671148	785	P>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs201706138 CA173890339	786	P>S		No	ClinGen Ensembl
CA4671150 rs779776571	790	T>M		No	ClinGen ExAC gnomAD
rs779776571 CA4671151	790	T>R		No	ClinGen ExAC gnomAD
CA4671155 rs202182590	793	G>S		No	ClinGen ExAC gnomAD
CA4671156 rs200099711	793	G>V		No	ClinGen ExAC TOPMed gnomAD
rs201038608 CA370573441	794	A>G		No	ClinGen TOPMed gnomAD
rs201038608 CA173890417	794	A>V		No	ClinGen TOPMed gnomAD
CA4671158 rs142292468	795	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs200518573 CA173890432	795	A>V		No	ClinGen Ensembl
CA173890436 rs201610583	796	P>R		No	ClinGen Ensembl
rs1455214021 CA370573461	796	P>T		No	ClinGen gnomAD
CA370573497 rs1249097564	799	H>P		No	ClinGen TOPMed
rs1326666848 CA370573511	800	K>T		No	ClinGen gnomAD
rs888062430 CA173890471	802	L>F		No	ClinGen TOPMed gnomAD
TCGA novel	803	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4671162 rs752730475	804	S>T		No	ClinGen ExAC gnomAD
CA370573589 rs1292593993	806	N>D		No	ClinGen TOPMed
CA4671164 rs771314758	806	N>S		No	ClinGen ExAC TOPMed gnomAD
CA4671166 rs757666102	807	G>D		No	ClinGen ExAC gnomAD
CA370573624 rs1210685473	808	S>R		No	ClinGen gnomAD
CA370573664 rs1347790570	812	V>M		No	ClinGen gnomAD
CA370573671 CA370573670 rs1244809890	813	G>R		No	ClinGen gnomAD
CA173890494 rs149738749	814	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs201059451 CA4671173	818	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs976139749 CA173890567	819	A>T		No	ClinGen TOPMed gnomAD
CA4671176 rs200846755	819	A>V		No	ClinGen ExAC TOPMed gnomAD
CA370573710 rs1351943619	820	E>K		No	ClinGen gnomAD
rs953174623 CA173890585	822	Q>*		No	ClinGen TOPMed
CA370573739 rs1405957506	823	D>E		No	ClinGen gnomAD
CA4671178 rs374430199	824	S>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA4671179 rs775597097	824	S>N		No	ClinGen ExAC gnomAD
CA370573747 rs1289126944	825	G>S		No	ClinGen gnomAD
rs145568118 CA4671181	826	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs932975549 CA173890609	829	L>Q		No	ClinGen Ensembl
rs1437746979 CA370573776	830	E>Q		No	ClinGen TOPMed
rs1050087402 CA173890637	831	N>K		No	ClinGen Ensembl
CA4671186 rs754623184	833	I>V		No	ClinGen ExAC gnomAD
rs1563929226 CA370573808	834	H>R		No	ClinGen Ensembl
rs753940513 CA173890649	835	T>A		No	ClinGen Ensembl
rs1230665270 CA370573823	837	E>Q		No	ClinGen TOPMed
rs376772421 CA173890650	838	L>M		No	ClinGen ESP ExAC
rs778736822 CA4671212	843	S>R		No	ClinGen ExAC gnomAD
rs757176193 CA4671211	843	S>R		No	ClinGen ExAC TOPMed gnomAD
CA370573885 rs1344304408	844	H>R		No	ClinGen TOPMed gnomAD
CA370573896 rs1256765175	845	N>K		No	ClinGen TOPMed
CA4671213 rs750209942	846	R>C		No	ClinGen ExAC gnomAD
CA370573898 rs750209942	846	R>G		No	ClinGen ExAC gnomAD
CA173890893 rs200321857	846	R>H		No	ClinGen gnomAD
rs909149752 CA173890895	849	A>V		No	ClinGen gnomAD
rs1563929578 CA370573922	850	T>A		No	ClinGen Ensembl
CA370573924 rs17855966	850	T>I		No	ClinGen gnomAD
CA173890896 rs17855966	850	T>S		No	ClinGen gnomAD
CA173890897 rs866771599	851	E>*		No	ClinGen Ensembl
rs1451654190 CA370573934	852	V>I		No	ClinGen gnomAD
rs1451654190 CA370573933	852	V>L		No	ClinGen gnomAD
rs199665643 CA370573942	853	T>I		No	ClinGen 1000Genomes gnomAD
rs199665643 CA173890901	853	T>S		No	ClinGen 1000Genomes gnomAD
rs201290050 CA4671215	854	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1465029131 CA370573950	855	K>E		No	ClinGen gnomAD
rs143546190 CA4671216	856	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs768872966 CA4671217	858	A>V		No	ClinGen ExAC TOPMed gnomAD
CA173890928 rs997543235	859	A>V		No	ClinGen TOPMed gnomAD
rs1380919002 CA370573991	861	M>T		No	ClinGen TOPMed
rs1029070726 CA173890933	862	Q>R		No	ClinGen TOPMed gnomAD
rs1231028401 CA370574014	863	E>D		No	ClinGen gnomAD
COSM1098142 rs1207569395 CA370574030	865	R>Q	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs1486677501 CA370574033	866	V>I		No	ClinGen gnomAD
CA4671222 rs201688062	867	R>G		No	ClinGen ExAC TOPMed gnomAD
rs137969523 CA4671224	867	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA4671223 rs201688062	867	R>W		No	ClinGen ExAC TOPMed gnomAD
rs7845453 CA4671225	869	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4671226 rs200648214	869	A>V		No	ClinGen ExAC TOPMed gnomAD
rs139503366 CA4671228	871	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1563929900 CA370574084	872	E>K		No	ClinGen Ensembl
CA370574106 rs1289198310	873	E>G		No	ClinGen gnomAD
TCGA novel	873	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4671230 rs765189898	874	T>A		No	ClinGen ExAC gnomAD
rs201303857 CA4671232	874	T>N		No	ClinGen ExAC TOPMed gnomAD
CA4671231 rs201303857	874	T>S		No	ClinGen ExAC TOPMed gnomAD
CA370574117 rs201248136	875	A>S		No	ClinGen ESP gnomAD
rs201248136 CA173891081	875	A>T		No	ClinGen ESP gnomAD
rs202099882 CA4671235	876	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs201420827 CA4671234	876	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA370574137 rs1318320486	877	T>M		No	ClinGen TOPMed gnomAD
CA4671238 rs769836001	878	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA4671241 rs771565165	880	R>*		No	ClinGen ExAC TOPMed gnomAD
rs200419699 CA4671242	880	R>L		No	ClinGen ExAC TOPMed gnomAD
CA173891127 rs200419699	880	R>P		No	ClinGen ExAC TOPMed gnomAD
CA370574165 rs200419699	880	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs768400751 CA4671244	881	Q>H		No	ClinGen ExAC gnomAD
rs759998626 CA4671243	881	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs1410307736 CA370574184	882	K>R		No	ClinGen gnomAD
TCGA novel	883	S>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	884	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs776186494 CA4671245	885	L>F		No	ClinGen ExAC TOPMed gnomAD
CA4671246 rs761381642	887	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA370574246 rs1304797376	887	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1447936556 CA370574300	891	E>Q		No	ClinGen TOPMed
rs764594580 CA370574315	892	L>F		No	ClinGen ExAC gnomAD
rs1585168609 CA370574317	892	L>R		No	ClinGen Ensembl
rs764594580 CA4671247	892	L>V		No	ClinGen ExAC gnomAD
CA4671248 rs201005174	893	R>C		No	ClinGen ExAC TOPMed gnomAD
rs202244957 CA4671249	893	R>H		No	ClinGen ExAC gnomAD
TCGA novel	893	R>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs200337445 CA370574343	894	R>G		No	ClinGen TOPMed gnomAD
rs1319622989 CA370574344	894	R>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
COSM1456117 CA4671250 rs556131395	895	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA4671251 rs201311016	895	R>H		No	ClinGen ExAC TOPMed gnomAD
rs952798427 CA173891203	897	T>I		No	ClinGen TOPMed gnomAD
rs952798427 CA370574378	897	T>N		No	ClinGen TOPMed gnomAD
rs754811698 CA4671252	897	T>P		No	ClinGen ExAC gnomAD
CA173891212 rs199539940	898	P>S		No	ClinGen gnomAD
TCGA novel	900	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs868166615 CA173891249	900	Q>K		No	ClinGen Ensembl
CA173891260 rs199713096	904	Q>E		No	ClinGen TOPMed gnomAD
CA370574476 rs1321978839	904	Q>H		No	ClinGen TOPMed
rs200827249 CA4671255	905	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1005573739 CA173891270	905	R>W		No	ClinGen TOPMed gnomAD
TCGA novel	906	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1192354236 CA370575175	910	A>T		No	ClinGen TOPMed
CA173891981 rs200110384	910	A>V		No	ClinGen TOPMed gnomAD
rs753944023 CA4671282	911	D>N		No	ClinGen ExAC gnomAD
rs1367978242 CA370575193	911	D>V		No	ClinGen gnomAD
rs1159883084 CA580555544	912	S>*		No	ClinGen gnomAD
CA4671283 rs568228240	914	V>M		No	ClinGen 1000Genomes ExAC gnomAD
rs779556731 CA4671285	915	E>K		No	ClinGen ExAC
CA4671286 rs202120717	916	K>E		No	ClinGen ESP TOPMed gnomAD
rs530935066 CA173892040	917	E>K		No	ClinGen Ensembl
rs1444475991 CA370575271	918	E>*		No	ClinGen gnomAD
CA370575274 rs1280291978	918	E>V		No	ClinGen gnomAD
rs144622807 CA4671288	919	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs945430148 CA173892067	920	A>V		No	ClinGen TOPMed
rs1361462392 CA370575301	921	P>L		No	ClinGen TOPMed gnomAD
rs1289381497 CA370575295	921	P>S		No	ClinGen gnomAD
CA370575307 rs1223073899	922	S>G		No	ClinGen TOPMed gnomAD
rs1251008266 CA370575329	923	N>K		No	ClinGen gnomAD

No associated diseases with Q8N163

No regional properties for Q8N163

Type	Name	Position	InterPro Accession
No domain, repeats, and functional sites for Q8N163

Functions

		Description
EC Number
Subcellular Localization	Nucleus Cytoplasm Cytoplasm, cytoskeleton, spindle	Recruited to chromatin, post-UV irradiation Sequestered to the cytoplasm in the presence of MCC Translocated to the cytoplasm during UV-induced apoptosis
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

7 GO annotations of cellular component

Name	Definition
chromatin	The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome.
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
DBIRD complex	A protein complex that associates with mRNP particles and RNA polymerase II and is proposed to integrate transcript elongation with the regulation of alternative splicing. In humans it is composed of the proteins KIAA1967/DBC1 and ZNF326/ZIRD.
mitochondrial matrix	The gel-like material, with considerable fine structure, that lies in the matrix space, or lumen, of a mitochondrion. It contains the enzymes of the tricarboxylic acid cycle and, in some organisms, the enzymes concerned with fatty acid oxidation.
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.
nucleus	A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.
spindle	The array of microtubules and associated molecules that forms between opposite poles of a eukaryotic cell during mitosis or meiosis and serves to move the duplicated chromosomes apart.

5 GO annotations of molecular function

Name	Definition
enzyme binding	Binding to an enzyme, a protein with catalytic activity.
enzyme inhibitor activity	Binds to and stops, prevents or reduces the activity of an enzyme.
nuclear receptor coactivator activity	A transcription coactivator activity that activates or increases the transcription of specific gene sets via binding to a DNA-bound nuclear receptor, either on its own or as part of a complex. Coactivators often act by altering chromatin structure and modifications. For example, one class of transcription coregulators modifies chromatin structure through covalent modification of histones. A second class remodels the conformation of chromatin in an ATP-dependent fashion. A third class modulates interactions of DNA-bound DNA-binding transcription factors with other transcription coregulators. A fourth class of coactivator activity is the bridging of a DNA-binding transcription factor to the general (basal) transcription machinery. The Mediator complex, which bridges sequence-specific DNA binding transcription factors and RNA polymerase, is also a transcription coactivator.
RNA binding	Binding to an RNA molecule or a portion thereof.
RNA polymerase II complex binding	Binding to an RNA polymerase II core enzyme, a multisubunit eukaryotic nuclear RNA polymerase typically composed of twelve subunits.

21 GO annotations of biological process

Name	Definition
cell cycle	The progression of biochemical and morphological phases and events that occur in a cell during successive cell replication or nuclear replication events. Canonically, the cell cycle comprises the replication and segregation of genetic material followed by the division of the cell, but in endocycles or syncytial cells nuclear replication or nuclear division may not be followed by cell division.
cellular response to DNA damage stimulus	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating damage to its DNA from environmental insults or errors during metabolism.
mitochondrial fragmentation involved in apoptotic process	The change in the morphology of the mitochondria in an apoptotic cell from a highly branched network to a fragmented vesicular form.
mRNA processing	Any process involved in the conversion of a primary mRNA transcript into one or more mature mRNA(s) prior to translation into polypeptide.
negative regulation of catalytic activity	Any process that stops or reduces the activity of an enzyme.
negative regulation of cell growth	Any process that stops, prevents, or reduces the frequency, rate, extent or direction of cell growth.
negative regulation of DNA-templated transcription	Any process that stops, prevents, or reduces the frequency, rate or extent of cellular DNA-templated transcription.
negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage	Any process that stops, prevents or reduces the frequency, rate or extent of intrinsic apoptotic signaling pathway in response to DNA damage.
negative regulation of proteasomal ubiquitin-dependent protein catabolic process	Any process that stops, prevents, or reduces the frequency, rate or extent of the breakdown of a protein or peptide by hydrolysis of its peptide bonds, initiated by the covalent attachment of ubiquitin, and mediated by the proteasome.
positive regulation of apoptotic process	Any process that activates or increases the frequency, rate or extent of cell death by apoptotic process.
positive regulation of canonical Wnt signaling pathway	Any process that increases the rate, frequency, or extent of the Wnt signaling pathway through beta-catenin, the series of molecular signals initiated by binding of a Wnt protein to a frizzled family receptor on the surface of the target cell, followed by propagation of the signal via beta-catenin, and ending with a change in transcription of target genes.
positive regulation of DNA damage checkpoint	Any process that activates or increases the frequency, rate or extent of a DNA damage checkpoint.
regulation of circadian rhythm	Any process that modulates the frequency, rate or extent of a circadian rhythm. A circadian rhythm is a biological process in an organism that recurs with a regularity of approximately 24 hours.
regulation of DNA-templated transcription	Any process that modulates the frequency, rate or extent of cellular DNA-templated transcription.
regulation of DNA-templated transcription elongation	Any process that modulates the frequency, rate or extent of transcription elongation, the extension of an RNA molecule after transcription initiation and promoter clearance by the addition of ribonucleotides catalyzed by a DNA-dependent RNA polymerase.
regulation of protein deacetylation	Any process that modulates the rate, frequency, or extent of protein deacetylation, the removal of an acetyl group from a protein amino acid. An acetyl group is CH3CO-, derived from acetic
regulation of protein stability	Any process that affects the structure and integrity of a protein, altering the likelihood of its degradation or aggregation.
response to UV	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 an ultraviolet radiation (UV light) stimulus. Ultraviolet radiation is electromagnetic radiation with a wavelength in the range of 10 to 380 nanometers.
rhythmic process	Any process pertinent to the generation and maintenance of rhythms in the physiology of an organism.
RNA splicing	The process of removing sections of the primary RNA transcript to remove sequences not present in the mature form of the RNA and joining the remaining sections to form the mature form of the RNA.
Wnt signaling pathway	The series of molecular signals initiated by binding of a Wnt protein to a frizzled family receptor on the surface of the target cell and ending with a change in cell state.

No homologous proteins in AiPD

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

10	20	30	40	50	60
MSQFKRQRIN	PLPGGRNFSG	TASTSLLGPP	PGLLTPPVAT	ELSQNARHLQ	GGEKQRVFTG
70	80	90	100	110	120
IVTSLHDYFG	VVDEEVFFQL	SVVKGRLPQL	GEKVLVKAAY	NPGQAVPWNA	VKVQTLSNQP
130	140	150	160	170	180
LLKSPAPPLL	HVAALGQKQG	ILGAQPQLIF	QPHRIPPLFP	QKPLSLFQTS	HTLHLSHLNR
190	200	210	220	230	240
FPARGPHGRL	DQGRSDDYDS	KKRKQRAGGE	PWGAKKPRHD	LPPYRVHLTP	YTVDSPICDF
250	260	270	280	290	300
LELQRRYRSL	LVPSDFLSVH	LSWLSAFPLS	QPFSLHHPSR	IQVSSEKEAA	PDAGAEPITA
310	320	330	340	350	360
DSDPAYSSKV	LLLSSPGLEE	LYRCCMLFVD	DMAEPRETPE	HPLKQIKFLL	GRKEEEAVLV
370	380	390	400	410	420
GGEWSPSLDG	LDPQADPQVL	VRTAIRCAQA	QTGIDLSGCT	KWWRFAEFQY	LQPGPPRRLQ
430	440	450	460	470	480
TVVVYLPDVW	TIMPTLEEWE	ALCQQKAAEA	APPTQEAQGE	TEPTEQAPDA	LEQAADTSRR
490	500	510	520	530	540
NAETPEATTQ	QETDTDLPEA	PPPPLEPAVI	ARPGCVNLSL	HGIVEDRRPK	ERISFEVMVL
550	560	570	580	590	600
AELFLEMLQR	DFGYRVYKML	LSLPEKVVSP	PEPEKEEAAK	EEATKEEEAI	KEEVVKEPKD
610	620	630	640	650	660
EAQNEGPATE	SEAPLKEDGL	LPKPLSSGGE	EEEKPRGEAS	EDLCEMALDP	ELLLLRDDGE
670	680	690	700	710	720
EEFAGAKLED	SEVRSVASNQ	SEMEFSSLQD	MPKELDPSAV	LPLDCLLAFV	FFDANWCGYL
730	740	750	760	770	780
HRRDLERILL	TLGIRLSAEQ	AKQLVSRVVT	QNICQYRSLQ	YSRQEGLDGG	LPEEVLFGNL
790	800	810	820	830	840
DLLPPPGKST	KPGAAPTEHK	ALVSHNGSLI	NVGSLLQRAE	QQDSGRLYLE	NKIHTLELKL
850	860	870	880	890	900
EESHNRFSAT	EVTNKTLAAE	MQELRVRLAE	AEETARTAER	QKSQLQRLLQ	ELRRRLTPLQ
910	920
LEIQRVVEKA	DSWVEKEEPA	PSN