AiPD: Autoinhibited Protein Database

Q8IYF1

Gene name	ELOA2
Protein name	Elongin-A2
Names	EloA2, RNA polymerase II transcription factor SIII subunit A2, Transcription elongation factor B polypeptide 3B
Species	Homo sapiens (Human)
KEGG Pathway	hsa:51224
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

269-350 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

269-350 (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 Q8IYF1

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q8IYF1-F1	Predicted				AlphaFoldDB

1011 variants for Q8IYF1

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs193920804 RCV000149238 CA174625 COSM1179321	123	S>P	Malignant tumor of prostate prostate [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
rs751782164 CA8954812	2	A>S		No	ClinGen ExAC TOPMed gnomAD
rs1436684834 CA402403874	2	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	3	A>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8954809 rs775699100	3	A>T		No	ClinGen ExAC gnomAD
CA402403823 rs1599593338	5	S>A		No	ClinGen Ensembl
rs577852592 CA8954808	5	S>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA402403803 rs61738602	6	T>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs61738602 CA8954806	6	T>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs61738602 CA8954805	6	T>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs572647337 CA299829867	7	T>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA8954804 rs572647337	7	T>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1486372301 CA402403748	9	H>Q		No	ClinGen gnomAD
COSM1522931 CA8954801 rs748779768	9	H>R	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs565166831 CA8954799	12	E>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA402403709 rs1231880148	12	E>K		No	ClinGen gnomAD
rs1215564684 CA402403649	14	L>P	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs774788358 CA8954797	15	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs545181502 CA8954798	15	Q>L		No	ClinGen 1000Genomes ExAC gnomAD
rs1599592935 CA402402908	16	V>G		No	ClinGen Ensembl
CA299829827 rs925004150	17	R>C		No	ClinGen TOPMed
CA402402896 rs1416783971	17	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1461690709 CA402402884	19	A>T		No	ClinGen TOPMed
CA402402848 rs1183599676	22	T>A		No	ClinGen TOPMed
CA402402841 rs1302397322	22	T>K		No	ClinGen gnomAD
rs1302397322 CA402402838	22	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1357402295 CA402402834	23	E>Q		No	ClinGen gnomAD
CA8954795 rs556213905	24	P>L		No	ClinGen 1000Genomes ExAC gnomAD
rs764399506 CA8954794	26	K>N		No	ClinGen ExAC gnomAD
rs1422576297 CA402402771	27	L>P		No	ClinGen TOPMed gnomAD
rs1422576297 CA402402769	27	L>Q		No	ClinGen TOPMed gnomAD
rs1170628063 CA402402750	28	E>D		No	ClinGen TOPMed
CA8954793 rs763317457	28	E>K		No	ClinGen ExAC gnomAD
CA8954792 rs752689604	29	K>N		No	ClinGen ExAC gnomAD
rs765320611 CA8954791	30	Y>*		No	ClinGen ExAC gnomAD
CA8954789 rs536252584	31	L>F		No	ClinGen 1000Genomes ExAC gnomAD
rs759561503 CA8954790	31	L>S		No	ClinGen ExAC gnomAD
CA402402695 rs1569057209	32	Q>R		No	ClinGen Ensembl
rs1599592442 CA402402645	35	S>Y		No	ClinGen Ensembl
CA402402569 rs1276776670	39	M>R		No	ClinGen TOPMed gnomAD
CA402402572 rs1276776670	39	M>T		No	ClinGen TOPMed gnomAD
rs372395366 CA8954786	39	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1043435194 CA299829773	40	T>K		No	ClinGen TOPMed gnomAD
CA402402537 rs1043435194	40	T>M		No	ClinGen TOPMed gnomAD
rs749006120 CA8954784	41	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
TCGA novel	43	I>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA402402482 rs779600546	43	I>S		No	ClinGen ExAC TOPMed gnomAD
rs779600546 CA8954783	43	I>T		No	ClinGen ExAC TOPMed gnomAD
CA8954782 rs769298786	45	A>E		No	ClinGen ExAC TOPMed gnomAD
rs1394399460 CA402402466	45	A>T		No	ClinGen gnomAD
CA299829743 rs769298786	45	A>V		No	ClinGen ExAC TOPMed gnomAD
CA8954781 rs745382161	46	E>D		No	ClinGen ExAC gnomAD
CA8954780 rs781736406	47	T>I		No	ClinGen ExAC gnomAD
CA402402432 rs1462796782	48	G>A		No	ClinGen gnomAD
CA402402439 rs1168343015	48	G>R		No	ClinGen gnomAD
rs553873604 CA8954779	50	R>G		No	ClinGen 1000Genomes ExAC gnomAD
CA402402408 rs1421565038	50	R>S		No	ClinGen TOPMed gnomAD
CA8954778 rs141717482	52	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA299829700 rs980413889	53	V>A		No	ClinGen Ensembl
CA402402376 rs980413889	53	V>G		No	ClinGen Ensembl
rs970450328 CA299829689	54	K>N		No	ClinGen Ensembl
rs150598803 CA8954774	55	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs150598803 CA299829684	55	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1485399629 CA402402357	55	R>H		No	ClinGen TOPMed
rs150598803 CA402402361	55	R>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8954770 rs761784223	57	R>Q		No	ClinGen ExAC gnomAD
CA8954771 rs767426854 COSM1734546	57	R>W	Variant assessed as Somatic; 0.0 impact. pancreas [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA402402317 rs1599591652	59	H>R		No	ClinGen Ensembl
rs368498223 CA299829640	60	Q>E		No	ClinGen Ensembl
CA402402303 rs1420646006	60	Q>P		No	ClinGen gnomAD
rs1307876952 CA402402295	61	H>Y		No	ClinGen TOPMed gnomAD
CA402402280 rs1599591494	62	V>G		No	ClinGen Ensembl
CA402402284 rs1446111248 CA402402282	62	V>L		No	ClinGen gnomAD
CA8954767 rs762677890	63	G>D		No	ClinGen ExAC TOPMed gnomAD
rs145959043 CA8954765	64	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs1162289135 CA402402235	66	A>D		No	ClinGen gnomAD
CA402402240 rs1453741568	66	A>P		No	ClinGen TOPMed
rs1162289135 CA402402232	66	A>V		No	ClinGen gnomAD
rs1342853996 CA402402209	68	D>E		No	ClinGen TOPMed
CA8954764 rs568977281	68	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8954762 rs776332110	70	A>V		No	ClinGen ExAC gnomAD
rs778447573 CA8954759	71	A>T		No	ClinGen ExAC gnomAD
CA402402180 rs1195999242	71	A>V		No	ClinGen gnomAD
rs199722480 CA402402176	72	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA8954757 rs748469482	72	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs199722480 CA8954758	72	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA402402167 rs1599591044	73	W>G		No	ClinGen Ensembl
CA8954754 rs753929897	75	K>T		No	ClinGen ExAC gnomAD
CA402402143 rs1239565290	76	L>V		No	ClinGen gnomAD
rs935006979 CA299829561	78	L>F		No	ClinGen TOPMed
rs751445063 CA8954751	79	V>L		No	ClinGen ExAC TOPMed gnomAD
rs528023078 CA8954750	80	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA402402122 rs1489801822	80	D>N		No	ClinGen TOPMed
CA402402116 rs1322717725	81	R>*		No	ClinGen gnomAD
CA8954748 rs137863560	81	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA8954747 rs764927828	82	N>Y		No	ClinGen ExAC gnomAD
rs199546236 CA8954746	84	R>G	Variant assessed as Somatic; 0.0002787 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs61747013 CA8954745	84	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs200315582 CA8954742	86	G>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs748535609 CA8954740	89	D>V		No	ClinGen ExAC gnomAD
CA8954739 rs779191394	90	P>R		No	ClinGen ExAC gnomAD
CA402402057 rs1302739937	91	E>G		No	ClinGen TOPMed
CA8954738 rs755194572	91	E>K		No	ClinGen ExAC gnomAD
CA8954737 rs749468727	92	E>D		No	ClinGen ExAC gnomAD
CA402402038 rs375777863	93	S>R		No	ClinGen gnomAD
rs1201096712 CA402402040	93	S>T		No	ClinGen gnomAD
CA402402030 rs1438937279	95	S>P		No	ClinGen TOPMed
COSM3796428 rs1569056446 CA402402027	95	S>Y	Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated Ensembl NCI-TCGA
CA8954736 rs149255867	96	R>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs149255867 CA8954735	96	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs750506707 CA8954734	96	R>P		No	ClinGen ExAC gnomAD
CA402402025 rs750506707	96	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
COSM1630594 rs963166141 CA299829453	98	R>C	liver Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs1555847077 CA402402013	98	R>P		No	ClinGen Ensembl
rs1278461823 CA402401998	100	G>E		No	ClinGen TOPMed gnomAD
rs777759654 CA8954733	100	G>R		No	ClinGen ExAC gnomAD
CA8954731 rs752508104	101	E>D		No	ClinGen ExAC gnomAD
CA8954730 rs201576344	102	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	104	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8954729 rs138936821	105	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA299829417 rs386802916	105	D>ER		No	ClinGen Ensembl
CA8954728 rs146911955	106	Q>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs146911955 COSM1177618 CA8954727	106	Q>P	endometrium [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA8954726 rs146911955	106	Q>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs772917421 COSM1720655 CA8954725	107	E>K	Variant assessed as Somatic; 0.0 impact. NS [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA8954723 rs772612764	108	K>N		No	ClinGen ExAC gnomAD
TCGA novel	109	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8954722 rs774950590	110	W>*		No	ClinGen ExAC gnomAD
CA8954721 rs774950590	110	W>S		No	ClinGen ExAC gnomAD
rs1569056282 CA402401929	111	G>D		No	ClinGen Ensembl
rs1476997768 CA402401930	111	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA402401911 rs1188384105	114	E>Q		No	ClinGen gnomAD
CA8954720 rs141791277	115	N>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM988657 rs974032541 CA299829393	116	A>V	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs1163317533 CA402401891	117	T>A		No	ClinGen TOPMed
CA8954718 rs780181773	117	T>M		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	117	T>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1407281728 CA402401887	118	A>T		No	ClinGen TOPMed
CA402401882 rs1258539668	118	A>V		No	ClinGen gnomAD
rs538047255 CA299829362	119	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes NCI-TCGA
rs147724130 CA8954716	119	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA402401870 rs569112915	121	S>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs569112915 CA8954714	121	S>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs752530250 CA8954713	122	P>Q		No	ClinGen ExAC TOPMed gnomAD
CA402401862 rs1447648036	122	P>S		No	ClinGen TOPMed
rs555598131 CA8954712	123	S>C		No	ClinGen 1000Genomes ExAC gnomAD
CA402401841 rs1332783359	125	S>I		No	ClinGen TOPMed gnomAD
rs1332783359 CA402401842	125	S>T		No	ClinGen TOPMed gnomAD
rs753756721 CA8954710	128	H>L		No	ClinGen ExAC gnomAD
rs1245197198 CA402401824	128	H>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1008347692 CA299829324	129	R>K		No	ClinGen Ensembl
CA299829318 rs955368469	130	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs760456244 CA8954708	131	T>P		No	ClinGen ExAC gnomAD
CA8954707 rs372742241	132	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs997095387 CA402401796	133	R>C		No	ClinGen gnomAD
CA299829296 rs997095387	133	R>G		No	ClinGen gnomAD
CA299829288 rs903733003	133	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA8954705 rs761404408	134	R>S		No	ClinGen ExAC gnomAD
rs1212380138 CA402401784	135	T>I		No	ClinGen TOPMed
rs1184070223 CA402401785	135	T>S		No	ClinGen gnomAD
TCGA novel	136	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA402401770 rs1459084887	137	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA402401765 rs1197824744	138	G>A		No	ClinGen TOPMed gnomAD
CA8954703 rs201027367	139	Q>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8954702 rs763303521	141	R>K		No	ClinGen ExAC gnomAD
CA8954701 rs775888689	142	P>H		No	ClinGen ExAC TOPMed gnomAD
CA402401723 rs746052147	145	R>G		No	ClinGen ExAC gnomAD
CA8954696 rs781501796	145	R>S		No	ClinGen ExAC gnomAD
CA8954697 rs746052147	145	R>W		No	ClinGen ExAC gnomAD
rs201983349 CA8954695	147	H>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA299829211 rs867688198	148	S>R		No	ClinGen Ensembl
rs1351919788 CA402401698	149	R>C		No	ClinGen gnomAD
rs747117761 CA8954694	149	R>H		No	ClinGen ExAC gnomAD
CA8954692 rs755028394	150	E>K		No	ClinGen ExAC gnomAD
CA402401682 rs1160423916	151	P>L		No	ClinGen gnomAD
CA8954690 rs1419097957	151	P>S		No	ClinGen TOPMed
rs1172864445 CA402401668	154	E>K		No	ClinGen TOPMed
CA402401660 rs1380878683	155	R>G		No	ClinGen gnomAD
rs780037542 CA8954688	155	R>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA8954687 rs372745167	157	C>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	158	P>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs140500983 CA8954685	159	R>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs764570754 CA8954682	160	I>M		No	ClinGen ExAC TOPMed gnomAD
CA8954683 rs151287064	160	I>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs151287064 CA299829136	160	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA8954684 rs756651664	160	I>V		No	ClinGen ExAC gnomAD
rs1269178201 CA402401624	161	A>P		No	ClinGen TOPMed
CA8954681 rs763499224	161	A>V		No	ClinGen ExAC gnomAD
TCGA novel	162	P>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1309186029 CA402401609	163	A>G		No	ClinGen gnomAD
rs1220133880 CA402401611	163	A>S		No	ClinGen TOPMed
CA8954680 rs200986735	165	S>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA299829123 rs200986735	165	S>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA8954678 rs370054629 COSM375658	166	G>D	lung [Cosmic]	No	ClinGen cosmic curated ESP ExAC gnomAD
rs939991772 CA299829114	166	G>S		No	ClinGen TOPMed gnomAD
CA299829100 rs987227054	167	R>C		No	ClinGen TOPMed gnomAD
CA8954675 rs142263566	167	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA402401590 rs142263566	167	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs142263566 CA8954674	167	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA299829057 rs386802915	167	R>PH		No	ClinGen Ensembl
rs987227054 CA299829102	167	R>S		No	ClinGen TOPMed gnomAD
rs780160438 CA8954671	168	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs768686603 CA8954673	168	Y>H		No	ClinGen ExAC TOPMed gnomAD
rs780160438 CA8954672	168	Y>S		No	ClinGen ExAC TOPMed gnomAD
rs745676339 CA8954669	169	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs148724194 CA8954670 COSM1388895	169	R>W	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA gnomAD
CA8954667 rs756991887	170	A>D		No	ClinGen ExAC TOPMed gnomAD
CA8954668 rs780702858	170	A>P		No	ClinGen ExAC gnomAD
CA299829047 rs780702858	170	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA8954665 rs201818139	171	S>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8954666 rs751008288	171	S>P		No	ClinGen ExAC TOPMed gnomAD
rs1284769293 CA402401573	172	P>A		No	ClinGen gnomAD
CA8954664 rs757927448	172	P>L		No	ClinGen ExAC gnomAD
rs202180726 CA8954663	173	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs202180726 CA299829029	173	T>R		No	ClinGen ExAC gnomAD
rs753405387 CA402401564	174	R>C		No	ClinGen TOPMed gnomAD
rs753405387 CA402401565	174	R>G		No	ClinGen TOPMed gnomAD
CA402401563 COSM1236369 rs765737351	174	R>H	autonomic_ganglia [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA8954662 rs765737351	174	R>L		No	ClinGen ExAC TOPMed gnomAD
CA299829026 rs753405387	174	R>S		No	ClinGen TOPMed gnomAD
CA402401552 rs1203958226	176	A>G		No	ClinGen TOPMed
CA402401554 rs144690057	176	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs144690057 CA8954660	176	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs766491600 CA8954659	177	P>R		No	ClinGen ExAC TOPMed gnomAD
rs1487569838 CA402401544	178	L>F		No	ClinGen TOPMed gnomAD
CA402401541 rs1218989921	178	L>R		No	ClinGen TOPMed
rs773602485 CA8954657	179	R>G		No	ClinGen ExAC TOPMed gnomAD
rs2571028 CA8954656	179	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs2571028 VAR_050965 CA8954655	179	R>P		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs773602485 CA8954658	179	R>W		No	ClinGen ExAC TOPMed gnomAD
rs199966114 CA8954654	180	M>K		No	ClinGen 1000Genomes ExAC gnomAD
CA402401526 rs1176639186	181	P>R		No	ClinGen TOPMed gnomAD
CA8954652 rs139896727	182	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA8954651 rs139896727	182	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA299828946 rs375806666	183	G>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA8954650 rs770458411	184	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs149522210 CA8954645	187	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs149522210 CA8954646 COSM1318397	187	A>T	Variant assessed as Somatic; 0.0 impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs760973046 CA8954642	188	A>E		No	ClinGen ExAC TOPMed gnomAD
CA8954643 rs760973046	188	A>G		No	ClinGen ExAC TOPMed gnomAD
CA402401490 rs1302754537	188	A>T		No	ClinGen TOPMed
rs760973046 CA8954641	188	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1260469981 CA402401482	189	P>L		No	ClinGen gnomAD
rs761977562 CA402401480 COSM1388894	190	G>R	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs761977562 CA8954638 COSM709456	190	G>W	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs774630345 CA8954637	191	K>E		No	ClinGen ExAC TOPMed gnomAD
CA8954635 rs759558936	193	P>L		No	ClinGen ExAC gnomAD
rs777399852 CA8954631	194	G>*		No	ClinGen ExAC gnomAD
rs771771946 CA8954630	194	G>E		No	ClinGen ExAC gnomAD
rs777399852 CA8954632 COSM988656	194	G>R	Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA8954628 rs578040595	198	T>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs373214046 CA8954626	198	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs373214046 CA8954627	198	T>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1370301857 CA402401423	199	H>Q		No	ClinGen TOPMed gnomAD
TCGA novel	199	H>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8954625 rs780435105	200	A>G		No	ClinGen ExAC gnomAD
rs750882006 CA8954623	203	G>D		No	ClinGen ExAC gnomAD
CA402401402 rs1180767750	203	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA402401398 rs750882006	203	G>V		No	ClinGen ExAC gnomAD
rs767836630 CA8954622	204	G>E		No	ClinGen ExAC TOPMed gnomAD
CA402401397 rs1395887650	204	G>R		No	ClinGen gnomAD
TCGA novel	205	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA402401383 rs1256412479	206	L>P		No	ClinGen gnomAD
CA402401372 rs1393611971	208	C>F		No	ClinGen TOPMed
rs751657328 CA8954620	208	C>G		No	ClinGen ExAC TOPMed gnomAD
rs764193394 CA8954619	209	P>A		No	ClinGen ExAC gnomAD
rs762964252 CA8954618	209	P>Q		No	ClinGen ExAC gnomAD
rs201942488 CA8954617	210	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs1390350879 CA402401366	210	G>S		No	ClinGen TOPMed
CA402401350 rs1333244680	212	Q>P		No	ClinGen gnomAD
CA402401345 rs1447281784	213	G>S		No	ClinGen TOPMed gnomAD
TCGA novel	214	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1296102765 CA402401336	214	Q>R		No	ClinGen gnomAD
rs1313370826 CA402401329	215	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs760451420 CA8954615	215	P>T		No	ClinGen ExAC TOPMed gnomAD
rs771684288 CA8954613	217	G>E		No	ClinGen ExAC TOPMed gnomAD
CA402401318 rs921354654 CA299828713	217	G>R		No	ClinGen gnomAD
CA8954612 rs747761241	218	K>E		No	ClinGen ExAC TOPMed gnomAD
rs112920514 CA8954611	218	K>R		No	ClinGen ExAC TOPMed gnomAD
CA402401305 rs1238906866	219	A>G		No	ClinGen TOPMed
CA8954610 rs768158322	219	A>S		No	ClinGen ExAC TOPMed gnomAD
rs780602972 CA402401303	220	V>I		No	ClinGen ExAC gnomAD
rs780602972 CA8954608	220	V>L		No	ClinGen ExAC gnomAD
CA299828687 rs771933812	221	V>A		No	ClinGen gnomAD
CA402401294 rs771933812	221	V>G		No	ClinGen gnomAD
CA402401283 rs1355886532	223	H>Y		No	ClinGen gnomAD
CA8954605 CA8954606 rs781718127	227	H>Q		No	ClinGen ExAC gnomAD
CA402401253 rs1480280566	227	H>Y		No	ClinGen gnomAD
CA402401237 rs967841942	229	S>*		No	ClinGen TOPMed gnomAD
rs967841942 CA299828659	229	S>L		No	ClinGen TOPMed gnomAD
CA402401241 rs1326676151	229	S>T		No	ClinGen gnomAD
rs757727652 CA8954604	230	S>P		No	ClinGen ExAC gnomAD
CA8954603 rs751782163	230	S>Y		No	ClinGen ExAC gnomAD
CA402401231 rs368077113	231	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA299828658 rs1022108038	231	R>L		No	ClinGen TOPMed
rs368077113 CA8954602	231	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA402401219 rs987952691	233	E>*		No	ClinGen gnomAD
rs1279141563 CA402401214	233	E>D		No	ClinGen gnomAD
COSM1480351 rs987952691 CA299828657	233	E>Q	Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
COSM709458 rs766319991 CA8954599	234	K>N	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs752779664 CA8954600	234	K>R		No	ClinGen ExAC gnomAD
rs760649410 COSM3388453 CA8954598	235	R>C	pancreas [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA299828652 rs558174228	235	R>L		No	ClinGen 1000Genomes TOPMed
CA8954594 rs146895478	236	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
COSM1267528 CA402401194 CA8954590 rs201688260	237	L>F	oesophagus [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs761612577 CA8954593	237	L>M		No	ClinGen ExAC TOPMed
rs373872961 CA8954591	237	L>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs748815736 CA8954589	238	C>*		No	ClinGen ExAC gnomAD
rs1218319916 CA402401186	239	A>T		No	ClinGen TOPMed
rs555572815 CA8954588	240	Q>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs746335836 CA8954586	242	D>A		No	ClinGen ExAC gnomAD
rs535261778 CA8954587	242	D>N		No	ClinGen 1000Genomes ExAC gnomAD
CA402401160 rs1349933718	243	W>R		No	ClinGen gnomAD
CA402401149 rs1599584467	244	H>L		No	ClinGen Ensembl
CA8954585 rs781770187	245	S>C		No	ClinGen ExAC gnomAD
rs1320110402 CA402401135	246	P>L		No	ClinGen TOPMed
rs757637684 CA8954584	246	P>T		No	ClinGen ExAC gnomAD
rs747400404 CA8954583	248	L>F		No	ClinGen ExAC gnomAD
rs1569054638 CA402401124	248	L>W		No	ClinGen Ensembl
CA8954582 rs370832383	249	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA402401111 rs1402787971	250	R>S		No	ClinGen gnomAD
CA8954581 rs758599073	251	E>G		No	ClinGen ExAC
CA402401109 rs1341972663	251	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA8954580 rs369947014	253	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs2010834 VAR_050966 CA8954578	254	C>F		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA8954579 rs765195317	254	C>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA402401086 rs2010834	254	C>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA402401083 CA8954576 rs376861883	255	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA402401069 rs1197712218	257	C>Y		No	ClinGen gnomAD
rs1478958896 CA402401059	258	L>F		No	ClinGen gnomAD
CA8954572 rs751364399	262	T>I		No	ClinGen ExAC TOPMed gnomAD
CA8954571 rs763778283	263	P>A		No	ClinGen ExAC gnomAD
CA8954570 rs762549731	264	R>G		No	ClinGen ExAC gnomAD
CA402401022 rs1359072930	264	R>T		No	ClinGen TOPMed
CA402401012 rs1345620204	265	M>I		No	ClinGen gnomAD
rs1304952501 CA402401007	266	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA299828492 rs995020698	267	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA299828487 rs898936241	268	W>R		No	ClinGen gnomAD
rs775238403 CA8954568	269	A>P		No	ClinGen ExAC gnomAD
TCGA novel	269	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs769379578 CA8954567	270	S>R		No	ClinGen ExAC TOPMed gnomAD
CA8954565 rs777273636	271	A>V		No	ClinGen ExAC TOPMed gnomAD
CA8954563 rs747379397	274	R>W		No	ClinGen ExAC gnomAD
CA8954561 rs772520702	275	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA299828437 rs768498912	275	Q>P		No	ClinGen TOPMed gnomAD
CA402400930 rs1599583372	278	D>G		No	ClinGen Ensembl
rs1170180990 CA402400934	278	D>N		No	ClinGen gnomAD
rs1474469855 CA402400926	279	F>I		No	ClinGen gnomAD
CA402400923 rs1239353698	279	F>S		No	ClinGen gnomAD
rs1569054255 CA402400917	280	K>E		No	ClinGen Ensembl
rs1312674406 CA402400912	280	K>N		No	ClinGen TOPMed
rs1569054255 CA402400918	280	K>Q		No	ClinGen Ensembl
CA8954560 rs748271311	281	T>I		No	ClinGen ExAC TOPMed gnomAD
rs779124880 CA8954559	282	D>E		No	ClinGen ExAC TOPMed gnomAD
rs754988549 CA8954558	283	K>R		No	ClinGen ExAC TOPMed gnomAD
CA8954557 rs753981239	284	E>D		No	ClinGen ExAC gnomAD
CA402400880 rs1213560157	285	G>A		No	ClinGen gnomAD
CA402400881 rs1213560157	285	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA402400884 rs1258316427 CA402400883	285	G>R		No	ClinGen TOPMed gnomAD
CA8954556 rs145748811	286	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs145748811 CA8954555	286	G>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1244859640	287	Q>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA402400865 rs1382754393	288	A>P		No	ClinGen gnomAD
rs1479279083 CA402400857	289	G>D		No	ClinGen TOPMed
CA8954553 rs531913965	290	S>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs751335224 CA8954554	290	S>R		No	ClinGen ExAC TOPMed gnomAD
CA8954552 rs373135969	290	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA402400849 rs569171844	291	G>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8954550 rs569171844	291	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1416199652 CA402400838	292	Q>H		No	ClinGen gnomAD
rs759103903 CA8954549	293	R>C		No	ClinGen ExAC TOPMed gnomAD
CA402400836 rs759103903	293	R>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA402400832 rs1472483563	293	R>H	Variant assessed as Somatic; 0.0001386 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA402400835 rs759103903	293	R>S		No	ClinGen ExAC TOPMed gnomAD
CA402400831 rs1384555187	294	V>I		No	ClinGen gnomAD
CA299828399 rs150224148	295	P>L		No	ClinGen ESP TOPMed
CA402400821 rs150224148	295	P>R		No	ClinGen ESP TOPMed
rs1181612495 CA402400823	295	P>S		No	ClinGen gnomAD
CA402400817 rs1260999334	296	A>D		No	ClinGen TOPMed gnomAD
CA402400819 rs1569054024	296	A>T		No	ClinGen Ensembl
CA8954548 rs776330300	297	L>S		No	ClinGen ExAC gnomAD
rs933998119 CA299828398	299	E>*		No	ClinGen TOPMed gnomAD
rs1203545817 CA402400795	299	E>D		No	ClinGen gnomAD
CA8954547 rs761049083	300	A>D		No	ClinGen ExAC TOPMed gnomAD
rs761049083 CA8954546	300	A>G		No	ClinGen ExAC TOPMed gnomAD
CA402400792 rs1274332933	300	A>T		No	ClinGen TOPMed
rs190820484 CA8954545	301	P>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8954544 rs140916062	302	D>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA402400770 rs1599582481	303	S>R		No	ClinGen Ensembl
CA8954541 rs779106552 CA8954542	304	H>Q		No	ClinGen ExAC gnomAD
rs768920048 CA8954540	305	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA299828350 rs915334957	307	R>G		No	ClinGen Ensembl
CA8954539 rs369739936	307	R>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs755809195 CA8954538	308	P>S		No	ClinGen ExAC TOPMed gnomAD
CA8954537 rs751401262	309	Q>P		No	ClinGen ExAC gnomAD
CA8954536 rs751401262	309	Q>R		No	ClinGen ExAC gnomAD
CA402400726 rs1324386231	310	H>Q		No	ClinGen gnomAD
CA8954535 rs199707362	310	H>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1424110530 CA402400725	311	S>G		No	ClinGen gnomAD
rs1363716505 CA402400720	311	S>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA8954534 rs758061573	312	H>Y		No	ClinGen ExAC gnomAD
CA402400706 rs956577760	313	S>L		No	ClinGen TOPMed gnomAD
CA299828322 rs956577760	313	S>W		No	ClinGen TOPMed gnomAD
CA402400699 rs764961596 CA8954532	314	N>K		No	ClinGen ExAC gnomAD
rs1176450229 CA402400701	314	N>S		No	ClinGen gnomAD
CA8954531 rs146549538	315	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	315	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA402400686 rs1490082768	316	K>M		No	ClinGen gnomAD
rs143433389 CA8954529	316	K>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA402400682 rs1218136988	317	R>K		No	ClinGen gnomAD
CA402400675 rs1355095391	318	P>S		No	ClinGen gnomAD
CA402400662 rs1284129446	320	L>V		No	ClinGen TOPMed gnomAD
COSM563839 CA8954527 rs773529308	321	D>E	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs139970016 CA8954526	322	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1350477341 CA402400644	323	R>Q		No	ClinGen TOPMed
rs762067131 CA402400645 COSM1388889	323	R>W	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1343862628 CA402400634	324	D>E		No	ClinGen gnomAD
CA402400629 rs1420354365	325	P>L		No	ClinGen gnomAD
rs774743457 CA8954524	325	P>T		No	ClinGen ExAC gnomAD
rs749469146 CA8954522	328	G>A		No	ClinGen ExAC gnomAD
rs749469146 CA8954523	328	G>E		No	ClinGen ExAC gnomAD
rs1329448558 CA402400610	329	T>S		No	ClinGen TOPMed
rs745964001 CA8954519	331	G>A		No	ClinGen ExAC gnomAD
CA8954520 rs769704350	331	G>S		No	ClinGen ExAC TOPMed gnomAD
CA8954518 rs777566839	333	S>L		No	ClinGen ExAC TOPMed
CA402400581 rs1367630813	334	P>A		No	ClinGen TOPMed gnomAD
CA299828219 rs754843811	335	E>*		No	ClinGen ExAC TOPMed gnomAD
CA8954515 rs754843811	335	E>K		No	ClinGen ExAC TOPMed gnomAD
CA8954514 rs754843811	335	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA402400565 rs753485892	336	E>D		No	ClinGen ExAC TOPMed gnomAD
CA8954512 rs766062290	337	K>N		No	ClinGen ExAC gnomAD
rs755578475 CA8954511	338	E>G		No	ClinGen ExAC TOPMed gnomAD
CA402400556 rs1214187884	338	E>K		No	ClinGen TOPMed gnomAD
CA402400555 rs1214187884	338	E>Q		No	ClinGen TOPMed gnomAD
CA8954510 rs750011587	339	Q>K		No	ClinGen ExAC gnomAD
rs372255211 CA8954509	342	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs762344517 CA8954508	343	D>H		No	ClinGen ExAC TOPMed gnomAD
CA402400515 rs539553515	344	R>G		No	ClinGen ExAC TOPMed gnomAD
CA8954506 rs764390730	345	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA299828164 rs1014687164	346	T>A		No	ClinGen Ensembl
rs1428618338 CA402400501	346	T>I		No	ClinGen TOPMed gnomAD
CA8954505 rs369924578	347	Q>E		No	ClinGen ESP ExAC gnomAD
CA299828139 rs1047894639	348	E>*		No	ClinGen TOPMed
rs1569053453 CA402400487	348	E>D		No	ClinGen Ensembl
CA402400492 rs1047894639	348	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA8954502 rs2571029	349	G>A		No	ClinGen ExAC TOPMed gnomAD
rs2571029 CA299828128	349	G>E		No	ClinGen ExAC TOPMed gnomAD
rs2571029 CA402400482	349	G>V		No	ClinGen ExAC TOPMed gnomAD
CA402400474 rs745913119	350	K>N		No	ClinGen ExAC gnomAD
CA8954499 rs146529375	351	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1172294682 CA402400471	351	P>S		No	ClinGen gnomAD
CA8954498 rs371636293	352	P>L		No	ClinGen ESP ExAC gnomAD
CA402400468 rs1260510100	352	P>S		No	ClinGen gnomAD
CA402400460 rs1238530028	353	T>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA8954496 rs779009856	355	H>P		No	ClinGen ExAC TOPMed gnomAD
CA402400449 rs1380852858	355	H>Y		No	ClinGen TOPMed
rs374300131 CA8954495	356	L>S		No	ClinGen ESP ExAC
CA8954494 rs749165906	357	D>E		No	ClinGen ExAC TOPMed gnomAD
CA8954493 rs142609283	358	R>K		No	ClinGen ESP ExAC gnomAD
CA8954490 rs780709545	359	T>K		No	ClinGen ExAC TOPMed gnomAD
CA8954492 rs780709545	359	T>M		No	ClinGen ExAC TOPMed gnomAD
CA8954491 rs780709545	359	T>R		No	ClinGen ExAC TOPMed gnomAD
CA402399312 rs1307133853	360	S>A		No	ClinGen gnomAD
rs1230069843 CA402399289	361	V>A		No	ClinGen gnomAD
rs1337256009 CA402399274	362	S>N		No	ClinGen gnomAD
CA8954487 rs144481184	364	L>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA402399241 rs1569053292	364	L>V		No	ClinGen Ensembl
CA8954486 rs763298258	365	S>Y		No	ClinGen ExAC gnomAD
TCGA novel	366	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA402399198 rs1333110874	367	V>M		No	ClinGen gnomAD
CA402399182 rs1462226643	368	E>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs111815744 CA299828040	370	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs111815744 CA8954483	370	V>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA8954484 rs765346731	370	V>I		No	ClinGen ExAC TOPMed gnomAD
CA402399123 rs776742887	371	D>A		No	ClinGen ExAC TOPMed gnomAD
CA402399127 rs1243059704	371	D>N		No	ClinGen TOPMed gnomAD
CA8954482 rs776742887	371	D>V		No	ClinGen ExAC TOPMed gnomAD
CA8954481 rs149697053	372	M>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs760844696 CA8954480	373	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
TCGA novel	374	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs774428462 CA8954479	375	E>D		No	ClinGen ExAC TOPMed gnomAD
rs1434650735 CA402399030	376	F>L		No	ClinGen gnomAD
CA8954478 rs374544462	377	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs370499347 CA8954477	378	Q>L		No	ClinGen ESP ExAC gnomAD
rs780717375 CA8954475	379	P>L		No	ClinGen ExAC TOPMed gnomAD
rs780717375 CA8954476	379	P>R		No	ClinGen ExAC TOPMed gnomAD
CA8954473 rs780719198	380	T>S		No	ClinGen ExAC gnomAD
CA8954471 rs201080530	382	S>P		No	ClinGen ExAC TOPMed gnomAD
CA402398918 rs1391731269	383	C>R		No	ClinGen gnomAD
rs778239640 CA8954470	383	C>S		No	ClinGen ExAC gnomAD
rs778239640 CA402398912	383	C>Y		No	ClinGen ExAC gnomAD
CA8954469 rs752050470	385	K>E		No	ClinGen ExAC gnomAD
rs138896768 CA8954468	386	Y>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs759833473 CA8954466	387	L>I		No	ClinGen ExAC TOPMed gnomAD
rs759833473 CA299827992	387	L>V		No	ClinGen ExAC TOPMed gnomAD
rs766776711 CA402398793	389	Y>*		No	ClinGen ExAC gnomAD
CA8954465 rs754027182	389	Y>H		No	ClinGen ExAC gnomAD
rs542013113 CA299827983	390	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA8954463 rs542013113	390	D>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs773471442 CA8954462	391	Q>K		No	ClinGen ExAC gnomAD
CA8954460 rs762910980	393	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA299827970 rs147141877	393	R>W		No	ClinGen ESP TOPMed gnomAD
CA299827959 rs958956552	395	Q>K		No	ClinGen TOPMed
CA402398622 rs1599579316	399	T>A		No	ClinGen Ensembl
CA299827941 CA8954458 rs769576796	400	G>R		No	ClinGen ExAC gnomAD
CA402398562 rs1569052954	401	K>N		No	ClinGen Ensembl
CA8954457 rs745657241	402	S>T		No	ClinGen ExAC gnomAD
CA402398553 rs1569052938	402	S>Y		No	ClinGen Ensembl
rs746500532 CA8954454	403	A>D		No	ClinGen ExAC gnomAD
rs892586 VAR_050967 CA8954455	403	A>S		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs892586 CA8954456	403	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA402398504 rs757925387	405	T>I		No	ClinGen ExAC TOPMed gnomAD
CA8954452 rs757925387	405	T>N		No	ClinGen ExAC TOPMed gnomAD
CA299827888 rs753035971	406	A>E		No	ClinGen TOPMed gnomAD
rs376811045 CA8954450	407	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA8954451 rs376811045	407	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs755364092 CA8954449	408	G>A		No	ClinGen ExAC TOPMed gnomAD
CA402398476 rs1297149897	408	G>R		No	ClinGen TOPMed
TCGA novel	408	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs754209641 CA8954448	409	D>H		No	ClinGen ExAC gnomAD
CA8954446 rs756440578	412	R>G		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	413	K>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs750709978 CA402398391	414	A>E		No	ClinGen ExAC TOPMed gnomAD
CA8954445 rs750709978	414	A>V		No	ClinGen ExAC TOPMed gnomAD
CA402398373 rs767658717	415	N>K		No	ClinGen ExAC TOPMed gnomAD
rs765481551 CA299827846 COSM258150	416	E>K	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs765481551 CA299827840	416	E>Q		No	ClinGen gnomAD
CA8954443 rs761815595	417	S>T		No	ClinGen ExAC gnomAD
rs1481783091 CA402398341	418	K>R		No	ClinGen TOPMed gnomAD
CA299827828 rs1026098531	419	G>A		No	ClinGen TOPMed
CA402398325 rs1026098531	419	G>D		No	ClinGen TOPMed
CA8954441 rs765156558	421	R>C		No	ClinGen ExAC TOPMed gnomAD
CA8954439 rs776459173	421	R>H		No	ClinGen ExAC TOPMed gnomAD
CA8954440 rs776459173	421	R>L		No	ClinGen ExAC TOPMed gnomAD
rs1227887952 CA402398299	422	E>A		No	ClinGen gnomAD
rs770539652 CA8954438	422	E>D		No	ClinGen ExAC TOPMed gnomAD
CA8954437 rs746615025	423	S>F		No	ClinGen ExAC gnomAD
CA402398290 rs1402573668	423	S>P		No	ClinGen TOPMed gnomAD
rs200276051 CA299827810	424	W>R		No	ClinGen 1000Genomes TOPMed
rs771502117 CA8954435	425	D>E		No	ClinGen ExAC TOPMed gnomAD
rs772864324 CA8954436	425	D>G		No	ClinGen ExAC gnomAD
CA402398266 rs1437805724	425	D>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA8954433 rs779458997 COSM988653	426	S>L	skin endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs747676826 CA8954434	426	S>T		No	ClinGen ExAC TOPMed gnomAD
rs779458997 CA299827793	426	S>W		No	ClinGen ExAC TOPMed gnomAD
CA402398239 rs1428889308	427	A>G		No	ClinGen gnomAD
rs943179442 CA299827769	427	A>P		No	ClinGen TOPMed gnomAD
rs943179442 CA402398241	427	A>S		No	ClinGen TOPMed gnomAD
TCGA novel	428	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8954432 rs755483790	428	K>T		No	ClinGen ExAC gnomAD
rs1373785925 CA402398214	429	K>R		No	ClinGen gnomAD
rs1235111156 CA402398199	430	L>F		No	ClinGen gnomAD
CA402398207 rs749629441	430	L>M		No	ClinGen ExAC gnomAD
rs780530535 CA8954429	430	L>S		No	ClinGen ExAC TOPMed gnomAD
rs1205355120 CA402398186	431	P>L		No	ClinGen TOPMed gnomAD
CA402398192 rs1259539009	431	P>S		No	ClinGen gnomAD
COSM1711308 CA8954428 rs756573425	432	P>L	skin [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs767859365 CA8954427	433	V>I		No	ClinGen ExAC TOPMed gnomAD
rs767859365 CA8954426	433	V>L		No	ClinGen ExAC TOPMed gnomAD
rs1393073796 CA402398146	435	E>G		No	ClinGen TOPMed gnomAD
rs1341016095 CA402398121	437	Q>P		No	ClinGen gnomAD
CA402398083 rs1263933641	440	R>M		No	ClinGen TOPMed
CA402398084 rs1263933641	440	R>T		No	ClinGen TOPMed
rs751650683 CA8954424	442	Q>E		No	ClinGen ExAC gnomAD
CA8954423 rs372224796	442	Q>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA402398062 rs372224796	442	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA299827700 rs998377733	443	A>V		No	ClinGen TOPMed gnomAD
CA402398038 rs1238485705	444	A>D		No	ClinGen TOPMed
CA299827699 rs936035384	444	A>S		No	ClinGen TOPMed
CA402398035 rs1238485705	444	A>V		No	ClinGen TOPMed
rs766103603 CA8954420	445	G>R		No	ClinGen ExAC TOPMed gnomAD
CA402398031 rs766103603	445	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA8954419 VAR_061646 rs3744863	446	A>T		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA8954418 rs772844315	447	D>A		No	ClinGen ExAC gnomAD
rs200906990 CA299827668	447	D>E		No	ClinGen Ensembl
CA402397992 rs1427624682	448	S>C		No	ClinGen gnomAD
CA402397998 rs1599577218	448	S>P		No	ClinGen Ensembl
rs1371279407 CA402397985	449	A>P		No	ClinGen gnomAD
rs747669092 CA299827659 CA8954416	450	G>R		No	ClinGen ExAC TOPMed gnomAD
rs749767940 CA8954413	451	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs749767940 CA402397962	451	P>R		No	ClinGen ExAC gnomAD
rs1052452197 CA299827648	451	P>T		No	ClinGen TOPMed gnomAD
CA402397957 rs780724513	452	K>*		No	ClinGen ExAC gnomAD
CA8954412 rs780724513	452	K>Q		No	ClinGen ExAC gnomAD
TCGA novel	453	T>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA402397927 rs1336817564	454	V>E		No	ClinGen gnomAD
CA8954410 rs746303515	455	P>S		No	ClinGen ExAC TOPMed gnomAD
rs17855589 CA299827615	456	S>N		No	ClinGen TOPMed
rs781554385 CA8954409	457	H>Q		No	ClinGen ExAC gnomAD
CA402397877 rs1382684454	458	V>A		No	ClinGen TOPMed gnomAD
rs1275064094 CA402397883	458	V>L		No	ClinGen TOPMed
rs536619955 CA8954408	460	S>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs536619955 CA8954407	460	S>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA402397844 rs1336613685	461	E>V		No	ClinGen gnomAD
rs1481604245 CA402397833	462	L>I		No	ClinGen TOPMed
rs758518276 CA402397811	464	D>N		No	ClinGen ExAC
rs758518276 CA8954405	464	D>Y		No	ClinGen ExAC
CA8954404 rs753706804	465	L>P		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	466	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs992083719 CA402397756	468	A>G		No	ClinGen TOPMed gnomAD
rs992083719 CA299827537	468	A>V		No	ClinGen TOPMed gnomAD
CA8954402 rs369292254	469	W>*		No	ClinGen ESP ExAC gnomAD
rs369292254 COSM129635 CA299827516	469	W>C	upper_aerodigestive_tract [Cosmic]	No	ClinGen cosmic curated ESP ExAC gnomAD
rs1425275192 CA402397707	472	A>T		No	ClinGen gnomAD
CA8954401 rs750264205	472	A>V		No	ClinGen ExAC gnomAD
CA402397662 rs1181555403	475	D>Y		No	ClinGen gnomAD
rs376146729 CA8954398	476	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs376146729 CA299827470	476	P>Q		No	ClinGen ExAC TOPMed gnomAD
CA8954399 rs376146729	476	P>R		No	ClinGen ExAC TOPMed gnomAD
rs1471012794 CA402397647	476	P>S		No	ClinGen TOPMed gnomAD
rs865864122 CA299827458	478	S>A		No	ClinGen Ensembl
rs762560180 CA8954396	478	S>L		No	ClinGen ExAC
rs770483622 CA402397612	479	D>A		No	ClinGen ExAC TOPMed gnomAD
rs770483622 CA8954394	479	D>G		No	ClinGen ExAC TOPMed gnomAD
CA402397616 rs1344317531	479	D>Y		No	ClinGen TOPMed gnomAD
rs1359411144 CA402397595	480	S>F		No	ClinGen TOPMed gnomAD
rs1336246848 CA402397581	481	D>E		No	ClinGen TOPMed gnomAD
rs1290172372 CA402397587	481	D>G		No	ClinGen gnomAD
CA402397576 rs1287722230	482	S>A		No	ClinGen TOPMed gnomAD
rs746213521 CA8954393	483	M>I		No	ClinGen ExAC gnomAD
rs1374423287 CA402397544	485	S>P		No	ClinGen TOPMed gnomAD
CA402397487 rs1440361995	488	K>N		No	ClinGen gnomAD
rs1279329299 CA402397493	488	K>T		No	ClinGen gnomAD
rs781451690 CA8954392	489	P>S		No	ClinGen ExAC gnomAD
CA8954391 rs771358188	491	A>T		No	ClinGen ExAC gnomAD
rs1162531677 CA402397437	492	L>F		No	ClinGen gnomAD
rs1468328136 CA402397412	494	S>A		No	ClinGen gnomAD
CA299827407 rs1017205498	495	P>L		No	ClinGen TOPMed
rs752829992 CA8954385	495	P>S		No	ClinGen ExAC gnomAD
CA402397395 rs1490030423	496	K>E		No	ClinGen gnomAD
rs1267381731 CA402397387	496	K>T		No	ClinGen gnomAD
rs1318030907 CA402397381	497	F>L		No	ClinGen gnomAD
rs1159774092 CA402397376	497	F>L		No	ClinGen gnomAD
CA299827396 rs983134385	497	F>S		No	ClinGen Ensembl
CA402397375 rs549369877	498	R>G		No	ClinGen 1000Genomes ExAC gnomAD
COSM33159 rs138369139 CA8954383 VAR_035914	498	R>Q	large_intestine a colorectal cancer sample; somatic mutation [Cosmic, UniProt]	No	ClinGen cosmic curated UniProt ESP ExAC TOPMed dbSNP gnomAD
CA8954384 COSM1388887 rs549369877	498	R>W	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC gnomAD
CA8954381 rs767164660	499	E>Q		No	ClinGen ExAC gnomAD
CA402397365 rs1177902184	500	E>*		No	ClinGen Ensembl
CA8954379 rs751110537	501	A>V		No	ClinGen ExAC gnomAD
CA8954374 rs181268056	505	G>E		No	ClinGen 1000Genomes ExAC gnomAD
CA8954376 rs72921305	505	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8954375 rs181268056	505	G>V		No	ClinGen 1000Genomes ExAC gnomAD
rs533499836 CA8954372	506	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs533499836 CA8954373	506	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA299827334 rs1018467408	506	R>L		No	ClinGen gnomAD
CA8954371 rs747473000	507	R>T		No	ClinGen ExAC gnomAD
CA8954368 rs748191169	510	A>D		No	ClinGen ExAC gnomAD
CA8954369 rs371186533	510	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs778920389 CA8954367	511	K>N		No	ClinGen ExAC TOPMed gnomAD
CA8954364 rs781198420	513	P>L		No	ClinGen ExAC gnomAD
CA8954365 rs745739051	513	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs745739051 CA8954366	513	P>T		No	ClinGen ExAC TOPMed gnomAD
CA402397281 rs1263997462	514	V>E		No	ClinGen gnomAD
COSM3821510 CA8954363 rs757001020	514	V>M	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA402397275 rs1599574906	515	Y>S		No	ClinGen Ensembl
rs763632969 CA8954362	516	S>*		No	ClinGen ExAC TOPMed gnomAD
rs763632969 CA8954361	516	S>L		No	ClinGen ExAC TOPMed gnomAD
CA402397261 rs1236198608	517	G>V		No	ClinGen TOPMed
rs764791912 CA8954358	518	S>C		No	ClinGen ExAC gnomAD
rs1215210571 CA402397255	519	R>G		No	ClinGen gnomAD
CA8954357 rs202182645	520	P>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs766966063 CA8954355	520	P>L		No	ClinGen ExAC TOPMed gnomAD
COSM709462 rs202182645 CA8954356	520	P>T	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA8954353 rs375978951	521	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA402397230 rs1469010609	523	Q>*		No	ClinGen gnomAD
CA8954351 rs772454293	523	Q>H		No	ClinGen ExAC gnomAD
rs1487235443 CA402397225	524	L>I		No	ClinGen TOPMed
rs146511424 CA8954350	525	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs749455269 CA8954348	526	V>A		No	ClinGen ExAC TOPMed gnomAD
rs749455269 CA8954347	526	V>G		No	ClinGen ExAC TOPMed gnomAD
CA299827133 rs202004416 COSM988650	527	P>L	endometrium Variant assessed as Somatic; 4.62e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs202004416 CA402397206	527	P>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs202004416 CA8954344	527	P>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8954345 rs149963135	527	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs758290047 CA8954342	528	T>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs777673849 CA8954343	528	T>P		No	ClinGen ExAC gnomAD
CA8954339 rs373923800	530	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM1228707 rs151198704 CA8954338	530	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA299827082 rs373923800	530	R>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs766761382 CA8954337	532	Q>H		No	ClinGen ExAC gnomAD
TCGA novel	532	Q>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs72921303 CA8954336	533	C>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1315514728 CA402397176	533	C>G		No	ClinGen gnomAD
CA8954335 rs773610963	533	C>W		No	ClinGen ExAC gnomAD
CA8954334 rs767809072	534	A>G		No	ClinGen ExAC TOPMed gnomAD
rs767809072 CA402397168	534	A>V		No	ClinGen ExAC TOPMed gnomAD
CA402397161 CA8954333 rs762173120	535	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA402397157 rs1285935151	536	V>E		No	ClinGen TOPMed
rs1158991586 CA402397159	536	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA402397147 rs774555626	538	R>*		No	ClinGen ExAC gnomAD
rs768926431 CA8954331	540	N>K		No	ClinGen ExAC gnomAD
CA8954330 rs762923418	541	P>L		No	ClinGen ExAC TOPMed gnomAD
CA402397124 rs1427162391	541	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA299826980 rs559315153	542	D>N		No	ClinGen 1000Genomes TOPMed
CA299826972 rs559315153	542	D>Y		No	ClinGen 1000Genomes TOPMed
CA8954328 rs746916831	543	A>P		No	ClinGen ExAC gnomAD
CA402397115 rs746916831	543	A>S		No	ClinGen ExAC gnomAD
COSM1324573 CA8954327 rs746916831	543	A>T	ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1196066458 CA402397109	544	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1456144755 CA402397107	544	L>P		No	ClinGen gnomAD
rs771988164 CA8954326	545	S>C		No	ClinGen ExAC TOPMed gnomAD
rs771988164 CA8954325	545	S>G		No	ClinGen ExAC TOPMed gnomAD
rs748014091 COSM988648 CA8954324	545	S>N	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs771988164 CA402397105	545	S>R		No	ClinGen ExAC TOPMed gnomAD
CA299826938 rs965703219	546	D>A		No	ClinGen TOPMed gnomAD
CA8954322 rs754698908	546	D>E		No	ClinGen ExAC gnomAD
rs201039150 CA8954323 COSM212913	546	D>N	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD
CA8954321 rs753460463	547	V>E		No	ClinGen ExAC gnomAD
CA402397093 rs753460463	547	V>G		No	ClinGen ExAC gnomAD
rs531443878 CA402397095	547	V>L		No	ClinGen TOPMed gnomAD
rs531443878 CA299826919	547	V>M		No	ClinGen TOPMed gnomAD
rs755588711 CA8954319	548	G>E		No	ClinGen ExAC TOPMed gnomAD
CA8954316 CA402397082 rs762156495	549	E>D		No	ClinGen ExAC gnomAD
rs768083536 CA8954317	549	E>G		No	ClinGen ExAC TOPMed gnomAD
rs750859788 CA8954318	549	E>K		No	ClinGen ExAC TOPMed gnomAD
rs201466088 CA299826903	550	V>A		No	ClinGen Ensembl
rs779384164 CA299826904	550	V>L		No	ClinGen Ensembl
CA299826896 rs933040612	551	P>A		No	ClinGen TOPMed
rs377434176 CA402397075	551	P>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs377434176 CA8954315	551	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA8954314 rs377434176	551	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1007258886 CA299826882	552	Y>*		No	ClinGen TOPMed
CA299826867 rs775599397	553	W>*		No	ClinGen ExAC gnomAD
CA8954312 rs775599397	553	W>S		No	ClinGen ExAC gnomAD
CA8954310 rs759539444	555	L>F		No	ClinGen ExAC gnomAD
CA8954311 rs759539444	555	L>I		No	ClinGen ExAC gnomAD
rs923006254 CA299826855	555	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA299826847 rs762891475	556	E>A		No	ClinGen Ensembl
rs773269055 CA8954309	556	E>Q		No	ClinGen ExAC gnomAD
CA402397018 rs1569050729	557	P>A		No	ClinGen Ensembl
rs772184623 CA402397015	557	P>L		No	ClinGen ExAC TOPMed gnomAD
rs772184623 CA8954308	557	P>R		No	ClinGen ExAC TOPMed gnomAD
CA8954306 rs778809541	558	V>I		No	ClinGen ExAC TOPMed gnomAD
rs147177649 CA8954305	560	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs1235932778 CA402396978	561	G>E		No	ClinGen gnomAD
rs748909669 CA8954304	561	G>R		No	ClinGen ExAC TOPMed gnomAD
rs748909669 CA402396979	561	G>W		No	ClinGen ExAC TOPMed gnomAD
CA402396962 rs779574021	562	W>*		No	ClinGen ExAC TOPMed gnomAD
rs779574021 CA8954303	562	W>C		No	ClinGen ExAC TOPMed gnomAD
rs1235031765 CA402396953	563	R>T		No	ClinGen TOPMed
rs1487457929 CA402396941	564	P>L		No	ClinGen gnomAD
rs749997713 CA8954301	564	P>S		No	ClinGen ExAC gnomAD
CA8954302 rs749997713	564	P>T		No	ClinGen ExAC gnomAD
rs536656582 CA299826799	565	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
rs536656582 CA8954300	565	D>Y		No	ClinGen 1000Genomes ExAC gnomAD
CA402396921 rs1286022310	566	Q>H		No	ClinGen gnomAD
rs1041595079 CA299826776	566	Q>R		No	ClinGen TOPMed
rs1418585061 CA402396919	567	L>M		No	ClinGen TOPMed
rs61742383 CA299826770	567	L>P		No	ClinGen Ensembl
CA8954296 rs554546241	568	Y>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8954298 rs139477376	568	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs139477376 CA8954297	568	Y>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs1385638592 CA402396897	569	R>G		No	ClinGen gnomAD
CA8954295 rs202109165	569	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs202109165 CA402396894	569	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs765435433 CA8954294	570	R>I		No	ClinGen ExAC TOPMed gnomAD
rs1453431191 CA402396878	571	K>E		No	ClinGen gnomAD
CA402396848 rs1293564294	573	D>G		No	ClinGen TOPMed
CA8954289 rs567137623	574	N>S		No	ClinGen 1000Genomes ExAC gnomAD
CA402396824 rs1428755283	575	H>Y		No	ClinGen gnomAD
CA299826720 rs999934305	577	L>P		No	ClinGen TOPMed
rs999934305 CA402396800	577	L>R		No	ClinGen TOPMed
rs144819955 CA8954287	578	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA402396785 rs768427800	579	R>K		No	ClinGen ExAC gnomAD
rs768427800 CA8954286	579	R>T		No	ClinGen ExAC gnomAD
rs1243106860 CA402396758	581	T>I		No	ClinGen Ensembl
CA8954284 rs775198012	582	D>E		No	ClinGen ExAC gnomAD
rs1205528349 CA402396755 COSM1303753	582	D>H	Variant assessed as Somatic; impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA402396756 rs1205528349	582	D>N		No	ClinGen TOPMed gnomAD
CA8954283 rs769385321 COSM1711307	583	E>K	Variant assessed as Somatic; impact. skin [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA
CA402396729 rs1265857754	584	L>*		No	ClinGen gnomAD
CA402396732 rs1441056731	584	L>I		No	ClinGen TOPMed
CA299826664 rs1025468965	585	R>P		No	ClinGen Ensembl
CA8954282 rs745354631	585	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs765443287 CA299826660	586	R>G		No	ClinGen Ensembl
rs756783087 CA8954280	587	N>I		No	ClinGen ExAC gnomAD
CA8954279 rs747459171	588	H>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	588	H>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	589	C>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8954276 rs758786567	590	F>L		No	ClinGen ExAC gnomAD
CA402396681 rs1382014304	590	F>L		No	ClinGen TOPMed gnomAD
TCGA novel	590	F>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8954275 rs370471640	591	Q>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA8954274 rs765467041	591	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA402396677 rs1339089309	591	Q>P		No	ClinGen gnomAD
rs1405585808 CA402396670	592	D>A		No	ClinGen gnomAD
rs1413722727 CA402396672	592	D>H		No	ClinGen TOPMed
rs1413722727 CA402396673	592	D>N		No	ClinGen TOPMed
CA402396659 rs1476405219	593	F>L		No	ClinGen gnomAD
rs1442514078 CA402396661	593	F>S		No	ClinGen TOPMed gnomAD
rs766504864 CA8954271	594	K>N		No	ClinGen ExAC
rs199943598 CA8954272	594	K>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA402396654 rs1193733206	594	K>R		No	ClinGen gnomAD
rs149432716 CA8954270	595	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA402396630 rs1397824558	597	K>N		No	ClinGen TOPMed
rs1185164965 CA402396624	598	P>R		No	ClinGen gnomAD
CA8954269 rs61743415	598	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1461513599 CA402396622 COSM563846	599	Q>E	lung Variant assessed as Somatic; 4.621e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs1461513599 CA402396623	599	Q>K		No	ClinGen gnomAD
CA8954268 rs373144772	603	T>I		No	ClinGen ESP ExAC TOPMed
rs762789680 CA8954267	604	W>*		No	ClinGen ExAC gnomAD
rs775193976 CA8954266	604	W>*		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	604	W>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8954265 rs150666101	605	R>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs745475816 CA8954264	606	E>K		No	ClinGen ExAC gnomAD
rs1453783374 CA402396562	607	Q>H		No	ClinGen gnomAD
CA8954263 rs181838893	607	Q>K		No	ClinGen 1000Genomes ExAC gnomAD
rs770363655 CA402396564	607	Q>P		No	ClinGen ExAC TOPMed gnomAD
rs770363655 CA8954262	607	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs267605191 CA299826559	608	Y>*		No	ClinGen TOPMed gnomAD
rs778320356 CA8954261	608	Y>H		No	ClinGen ExAC TOPMed gnomAD
CA8954260 rs778320356	608	Y>N		No	ClinGen ExAC TOPMed gnomAD
CA402396559 rs1599571008	608	Y>S		No	ClinGen Ensembl
CA8954259 rs758866836	609	L>P		No	ClinGen ExAC TOPMed gnomAD
rs1244890837 CA402396550	610	R>Q		No	ClinGen TOPMed
rs748720042 CA8954258	610	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA402396545 rs1429070997	611	L>F		No	ClinGen gnomAD
CA8954256 rs755404558	611	L>P	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA299826525 rs142997341 COSM84436	612	P>L	pancreas [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs142997341 CA8954254	612	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA8954255 rs754042522	612	P>S		No	ClinGen ExAC gnomAD
CA402396533 rs750520652 CA402396532	613	D>E		No	ClinGen ExAC TOPMed gnomAD
rs764063647 CA8954251	614	A>S		No	ClinGen ExAC gnomAD
rs1250673720 CA402396527	614	A>V		No	ClinGen TOPMed gnomAD
CA8954249 rs138302559	616	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA8954242 rs764954793	619	L>R		No	ClinGen ExAC gnomAD
CA402396485 rs1321054119	621	V>G		No	ClinGen TOPMed
rs145723313 CA8954241	621	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8954240 rs776263689	622	M>L		No	ClinGen ExAC gnomAD
CA402396471 rs1599570435	623	T>I		No	ClinGen Ensembl
CA402396465 rs1274894385	624	T>M		No	ClinGen TOPMed gnomAD
rs1444714651 CA402396459	625	N>S		No	ClinGen gnomAD
CA299826418 rs778297197 COSM220233	627	R>*	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs376519080 CA8954237	628	S>C		No	ClinGen ESP TOPMed gnomAD
rs1368641731 CA402396443	628	S>P		No	ClinGen gnomAD
rs376519080 CA299826393	628	S>Y		No	ClinGen ESP TOPMed gnomAD
CA8954236 rs760200331	629	A>P		No	ClinGen ExAC gnomAD
CA8954235 rs772554622	630	R>C		No	ClinGen ExAC gnomAD
rs1351735955 CA402396432	630	R>H		No	ClinGen TOPMed
CA402396436 rs772554622	630	R>S		No	ClinGen ExAC gnomAD
rs779475417 CA8954232	634	P>A		No	ClinGen ExAC TOPMed gnomAD
rs769134187 CA8954231	634	P>H		No	ClinGen ExAC TOPMed gnomAD
rs769134187 CA402396407	634	P>L		No	ClinGen ExAC TOPMed gnomAD
CA299826381 rs779475417	634	P>T		No	ClinGen ExAC TOPMed gnomAD
CA402396403 rs756446845	635	N>S		No	ClinGen ExAC TOPMed gnomAD
CA8954228 rs756446845	635	N>T		No	ClinGen ExAC TOPMed gnomAD
CA402396404 rs1194204012	635	N>Y		No	ClinGen TOPMed
rs78014467 CA8954227	636	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA299826370 rs866728056	637	R>K		No	ClinGen Ensembl
CA8954226 rs781087086	638	E>G		No	ClinGen ExAC gnomAD
rs148303118 CA8954225	639	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA402396363 rs978399019	640	K>N		No	ClinGen TOPMed
CA299826328 rs1055792077	641	M>I		No	ClinGen TOPMed gnomAD
rs759314866 CA8954222	641	M>K		No	ClinGen ExAC TOPMed gnomAD
CA8954223 rs765227696	641	M>L		No	ClinGen ExAC TOPMed gnomAD
CA8954221 rs753671969	642	I>T		No	ClinGen ExAC gnomAD
rs148904401 CA299826326	642	I>V		No	ClinGen ESP
CA402396334 rs1437168564	643	C>Y		No	ClinGen gnomAD
CA8954220 rs766191736	644	F>S		No	ClinGen ExAC gnomAD
CA8954219 rs760197146	645	K>N		No	ClinGen ExAC gnomAD
rs771412944 CA8954217	648	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1157872837 CA402396277	649	K>*		No	ClinGen gnomAD
CA402396274 rs1367710898	649	K>R		No	ClinGen gnomAD
rs761449212 CA8954216	651	P>L		No	ClinGen ExAC gnomAD
CA299826294 rs888552028	653	D>G		No	ClinGen TOPMed
CA8954215 rs774982360	653	D>N		No	ClinGen ExAC TOPMed gnomAD
rs1024953634 CA299826293	654	T>A		No	ClinGen gnomAD
CA8954214 rs769332695	655	S>L		No	ClinGen ExAC gnomAD
rs1267884016 CA629924747	657	R>*		No	ClinGen gnomAD
rs1207123631 CA402396189	657	R>K		No	ClinGen gnomAD
rs1241519695 CA402396183	657	R>S		No	ClinGen TOPMed
TCGA novel	659	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs749643060 CA8954213	662	A>P		No	ClinGen ExAC gnomAD
rs1218680153 CA402396126	662	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA402396124 rs1366849961	663	G>R		No	ClinGen gnomAD
rs780528666 CA8954212	665	A>S		No	ClinGen ExAC gnomAD
rs1432645150 CA402396091	666	D>H		No	ClinGen gnomAD
CA402396081 rs528389219	667	P>A		No	ClinGen 1000Genomes TOPMed
rs528389219 CA299826262	667	P>T		No	ClinGen 1000Genomes TOPMed
CA402396068 rs1455365305	668	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA402396039 rs1413345984	670	G>E		No	ClinGen gnomAD
rs1176179658 CA402396042	670	G>R		No	ClinGen gnomAD
CA8954208 rs757280925 COSM988646	671	E>D	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA8954209 rs781481695	671	E>K		No	ClinGen ExAC gnomAD
rs373374028 CA299826236	674	P>R		No	ClinGen ESP TOPMed gnomAD
rs1456415014 CA402395986	675	A>P		No	ClinGen TOPMed
rs754869038 CA8954205	676	S>F		No	ClinGen ExAC TOPMed gnomAD
CA402395979 rs886302225	676	S>P		No	ClinGen TOPMed gnomAD
CA299826234 rs886302225	676	S>T		No	ClinGen TOPMed gnomAD
CA402395961 rs1263937796	677	K>N		No	ClinGen gnomAD
rs1048470803 CA299826230	678	P>T		No	ClinGen TOPMed gnomAD
rs753794295 CA402395948	679	A>S		No	ClinGen ExAC TOPMed
rs753794295 CA8954204	679	A>T		No	ClinGen ExAC TOPMed
CA8954202 rs766105351	679	A>V		No	ClinGen ExAC gnomAD
rs750036911 CA8954200	681	S>R		No	ClinGen ExAC gnomAD
CA8954201 rs78910409	681	S>T		No	ClinGen ExAC gnomAD
CA402395915 rs1296656495	682	S>N		No	ClinGen gnomAD
CA8954199 rs145674705	682	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA8954198 rs761204477	683	H>Q		No	ClinGen ExAC gnomAD
rs1384556516 CA402395902	683	H>R		No	ClinGen gnomAD
rs1599568432 CA402395895	684	T>A		No	ClinGen Ensembl
rs774047592 CA8954197	684	T>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1475261618 CA402395880	685	P>L		No	ClinGen TOPMed
TCGA novel	686	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA402395858 rs1464581319	687	S>I		No	ClinGen TOPMed
rs769987500 CA8954193	688	Q>E		No	ClinGen ExAC gnomAD
CA8954192 rs746310172	688	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA8954191 rs776706205	689	S>R		No	ClinGen ExAC gnomAD
CA8954190 rs545594774	690	S>N		No	ClinGen 1000Genomes ExAC gnomAD
rs747262232 CA8954189	691	S>G		No	ClinGen ExAC gnomAD
rs1167013192 CA402395794	693	G>C		No	ClinGen gnomAD
rs749156599 CA299826146	694	G>C		No	ClinGen ExAC TOPMed gnomAD
rs1569048961 CA402395781	694	G>D		No	ClinGen Ensembl
rs749156599 CA402395787	694	G>R		No	ClinGen ExAC TOPMed gnomAD
CA8954186 rs749156599	694	G>S		No	ClinGen ExAC TOPMed gnomAD
rs377084937 CA8954185	695	R>G		No	ClinGen ESP ExAC gnomAD
CA8954184 rs142205825	695	R>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA8954183 rs750279246	696	D>H		No	ClinGen ExAC TOPMed gnomAD
CA299826130 rs750279246	696	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs563131912 CA8954179	700	S>R		No	ClinGen 1000Genomes TOPMed gnomAD
CA8954178 rs756897655	701	I>L		No	ClinGen ExAC gnomAD
rs1569048864 CA402395257	701	I>S		No	ClinGen Ensembl
CA8954176 rs751282738	702	L>I		No	ClinGen ExAC TOPMed gnomAD
rs866270879 CA299824619	703	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs577341359 CA402395248	703	R>H		No	ClinGen ExAC TOPMed gnomAD
rs577341359 CA8954175	703	R>L		No	ClinGen ExAC TOPMed gnomAD
rs577341359 CA299824609	703	R>P		No	ClinGen ExAC TOPMed gnomAD
rs866270879 CA402395250	703	R>S		No	ClinGen gnomAD
rs1369469159 CA402395242	704	W>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA8954173 rs574452331	704	W>G		No	ClinGen 1000Genomes ExAC gnomAD
rs765831931 CA402395233	706	P>A		No	ClinGen ExAC TOPMed gnomAD
rs1410394564 CA402395230	706	P>H		No	ClinGen gnomAD
rs765831931 CA8954172	706	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1249702802 CA402395212	709	R>G		No	ClinGen TOPMed gnomAD
rs759800111 CA402395210	709	R>L		No	ClinGen ExAC TOPMed gnomAD
rs759800111 CA402395209	709	R>P		No	ClinGen ExAC TOPMed gnomAD
rs759800111 CA8954171	709	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA402395211 rs1249702802	709	R>W		No	ClinGen TOPMed gnomAD
COSM988645 rs777095973 CA8954170	711	N>K	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs773426243 CA8954167 COSM291435	712	P>L	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA8954169 rs369081623	712	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8954168 rs369081623	712	P>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1463876685 CA402395187	713	C>*		No	ClinGen TOPMed
rs925711592 CA299824524	713	C>Y		No	ClinGen TOPMed gnomAD
CA402395174 rs779829991	715	S>R		No	ClinGen ExAC gnomAD
CA8954165 rs748280838	715	S>T		No	ClinGen ExAC TOPMed gnomAD
rs769806807 CA8954163	717	S>R		No	ClinGen ExAC gnomAD
CA8954160 rs201659207 CA8954161	718	N>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8954159 rs757135048 CA402395146	719	E>D		No	ClinGen ExAC TOPMed gnomAD
CA8954158 rs777635453 CA8954157	720	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs752305217 CA8954155	721	A>G		No	ClinGen ExAC TOPMed gnomAD
CA8954156 rs573481393	721	A>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs760037172 CA8954153	722	A>S		No	ClinGen ExAC TOPMed gnomAD
COSM295774 rs754313615 CA8954152	722	A>V	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed
CA299824473 rs761094990	723	P>H		No	ClinGen ExAC gnomAD
rs761094990 CA402395129	723	P>L		No	ClinGen ExAC gnomAD
CA8954148 rs761094990	723	P>R		No	ClinGen ExAC gnomAD
rs755167224 CA8954149	723	P>T		No	ClinGen TOPMed
CA8954146 rs757395128	724	A>E		No	ClinGen ExAC gnomAD
TCGA novel	724	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8954147 rs757395128	724	A>V		No	ClinGen ExAC gnomAD
rs761847344 CA8954145	725	A>D		No	ClinGen ExAC gnomAD
CA299824456 rs369001979	725	A>S		No	ClinGen ESP TOPMed
CA8954144 rs774447890	727	T>I		No	ClinGen ExAC TOPMed gnomAD
COSM4140090 CA402395105 rs1172146243	728	R>Q	ovary [Cosmic]	No	ClinGen cosmic curated TOPMed
CA8954143 rs768643242	728	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1285961325 CA402395101	729	K>*		No	ClinGen TOPMed gnomAD
rs1285961325 CA402395102	729	K>E		No	ClinGen TOPMed gnomAD
rs202170793 CA299824448	729	K>R		No	ClinGen TOPMed gnomAD
rs375305878 CA8954140	730	Q>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8954139 rs145144237	731	A>T		No	ClinGen ESP ExAC gnomAD
CA8954138 rs777545546	731	A>V		No	ClinGen ExAC TOPMed gnomAD
CA402395084 rs1321613485	732	A>P		No	ClinGen TOPMed gnomAD
rs1321613485 CA402395083	732	A>S		No	ClinGen TOPMed gnomAD
rs139409659 CA8954135	734	K>R		No	ClinGen ESP ExAC gnomAD
rs139409659 CA8954134	734	K>T		No	ClinGen ESP ExAC gnomAD
TCGA novel	735	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8954133 rs151143404	735	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs984896956 CA299824406	736	A>V		No	ClinGen gnomAD
CA402395050 rs1302344614	737	P>L		No	ClinGen TOPMed
rs1378139555 CA402395055	737	P>S		No	ClinGen gnomAD
rs1431357242 CA402395045	738	L>Q		No	ClinGen gnomAD
CA8954131 rs761001203	739	M>I		No	ClinGen ExAC gnomAD
rs766930067 CA8954132	739	M>T		No	ClinGen ExAC TOPMed gnomAD
rs750823099 CA8954130	740	A>D		No	ClinGen ExAC TOPMed gnomAD
rs750823099 CA402395033	740	A>G		No	ClinGen ExAC TOPMed gnomAD
CA402395037 rs1283471253	740	A>T		No	ClinGen TOPMed
rs1265801441 CA402395029	741	K>T		No	ClinGen gnomAD
CA402395020 rs1215848268	742	A>E		No	ClinGen TOPMed
TCGA novel	742	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA402395014 rs1201692788	743	I>S		No	ClinGen gnomAD
rs767897500 CA402395011	744	R>*		No	ClinGen ExAC TOPMed gnomAD
CA8954129 rs767897500	744	R>G		No	ClinGen ExAC TOPMed gnomAD
CA8954127 rs774453041	744	R>P		No	ClinGen ExAC gnomAD
CA8954128 rs774453041	744	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1569048260 CA402395004	745	D>E		No	ClinGen Ensembl
CA402395008 rs768718364	745	D>H		No	ClinGen ExAC TOPMed gnomAD
CA402395005 rs1252715606	745	D>V		No	ClinGen TOPMed
CA8954126 rs768718364	745	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs142085771 CA8954124	746	Y>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1298838094 CA402395000	746	Y>D		No	ClinGen gnomAD
CA8954123 rs776618669	747	K>M		No	ClinGen ExAC gnomAD
rs776618669 CA299824372	747	K>R		No	ClinGen ExAC gnomAD
CA8954122 rs771041874	748	R>G		No	ClinGen ExAC TOPMed gnomAD
TCGA novel CA8954121 rs568504684	750	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen 1000Genomes ExAC gnomAD
rs548311298 CA8954120	751	S>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8954118 rs369675732	752	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA8954117 rs778495814	752	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA8954115 rs371842955	753	R>*		No	ClinGen ExAC TOPMed gnomAD
rs1017975763 CA299824339	753	R>L		No	ClinGen gnomAD

No associated diseases with Q8IYF1

6 regional properties for Q8IYF1

Type	Name	Position	InterPro Accession
repeat	WD40 repeat	83 - 127	IPR001680-1
repeat	WD40 repeat	133 - 178	IPR001680-2
repeat	WD40 repeat	181 - 275	IPR001680-3
repeat	WD40 repeat	297 - 334	IPR001680-4
repeat	WD40 repeat	401 - 440	IPR001680-5
conserved_site	WD40 repeat, conserved site	208 - 222	IPR019775

Functions

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

2 GO annotations of cellular component

Name	Definition
elongin complex	A transcription elongation factor complex that suppresses RNA polymerase II pausing, and may act by promoting proper alignment of the 3'-end of nascent transcripts with the polymerase catalytic site. Consists of a transcriptionally active Elongin A subunit (about 100 kDa) and two smaller Elongin B (about 18 kDa) and Elongin C (about 15 kDa) subunits.
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.

No GO annotations of molecular function

Name	Definition
No GO annotations for molecular function

3 GO annotations of biological process

Name	Definition
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.
transcription by RNA polymerase II	The synthesis of RNA from a DNA template by RNA polymerase II (RNAP II), originating at an RNA polymerase II promoter. Includes transcription of messenger RNA (mRNA) and certain small nuclear RNAs (snRNAs).
transcription elongation by RNA polymerase II promoter	The extension of an RNA molecule after transcription initiation and promoter clearance at an RNA polymerase II promoter by the addition of ribonucleotides catalyzed by RNA polymerase II.

2 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q14241	ELOA	Elongin-A	Homo sapiens (Human)	PR
Q8CB77	Eloa	Elongin-A	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MAAGSTTLHA	VEKLQVRLAT	KTEPKKLEKY	LQKLSALPMT	ADILAETGIR	KTVKRLRKHQ
70	80	90	100	110	120
HVGDFARDLA	ARWKKLVLVD	RNTRPGPQDP	EESASRQRFG	EALQDQEKAW	GFPENATAPR
130	140	150	160	170	180
SPSHSPEHRR	TARRTPPGQQ	RPHPRSHSRE	PRAERKCPRI	APADSGRYRA	SPTRTAPLRM
190	200	210	220	230	240
PEGPEPAAPG	KQPGRGHTHA	AQGGPLLCPG	CQGQPQGKAV	VSHSKGHKSS	RQEKRPLCAQ
250	260	270	280	290	300
GDWHSPTLIR	EKSCGACLRE	ETPRMPSWAS	ARDRQPSDFK	TDKEGGQAGS	GQRVPALEEA
310	320	330	340	350	360
PDSHQKRPQH	SHSNKKRPSL	DGRDPGNGTH	GLSPEEKEQL	SNDRETQEGK	PPTAHLDRTS
370	380	390	400	410	420
VSSLSEVEEV	DMAEEFEQPT	LSCEKYLTYD	QLRKQKKKTG	KSATTALGDK	QRKANESKGT
430	440	450	460	470	480
RESWDSAKKL	PPVQESQSER	LQAAGADSAG	PKTVPSHVFS	ELWDLSEAWM	QANYDPLSDS
490	500	510	520	530	540
DSMTSQAKPE	ALSSPKFREE	AAFPGRRVNA	KMPVYSGSRP	ACQLQVPTLR	QQCAQVLRNN
550	560	570	580	590	600
PDALSDVGEV	PYWVLEPVLE	GWRPDQLYRR	KKDNHALVRE	TDELRRNHCF	QDFKEEKPQE
610	620	630	640	650	660
NKTWREQYLR	LPDAPEQRLR	VMTTNIRSAR	GNNPNGREAK	MICFKSVAKT	PYDTSRRQEK
670	680	690	700	710	720
SAGDADPENG	EIKPASKPAG	SSHTPSSQSS	SGGGRDSSSS	ILRWLPEKRA	NPCLSSSNEH
730	740	750
AAPAAKTRKQ	AAKKVAPLMA	KAIRDYKRRF	SRR