AiPD: Autoinhibited Protein Database

Q8N0W3

Gene name	FCSK
Protein name	L-fucose kinase
Names	Fucokinase
Species	Homo sapiens (Human)
KEGG Pathway	hsa:197258
EC number	2.7.1.52: Phosphotransferases with an alcohol group as acceptor
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

322-391 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

322-391 (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 Q8N0W3

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q8N0W3-F1	Predicted				AlphaFoldDB

1041 variants for Q8N0W3

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
VAR_081646 RCV000757948 CA8143045 rs769009456	223	S>P	Congenital disorder of glycosylation with defective fucosylation 2 CDGF2; unknown pathological significance [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
CA8143454 rs201433219 RCV001332944	652	A>V	Congenital disorder of glycosylation with defective fucosylation 2 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs755169246 RCV002234120 RCV000757949 CA8143480 VAR_081647	683	R>C	Congenital disorder of glycosylation with defective fucosylation 2 CDGF2; unknown pathological significance [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
CA396572736 rs1223202082 RCV001332945	729	Y>C	Congenital disorder of glycosylation with defective fucosylation 2 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs562205568 RCV001332946 CA8143525 COSM1128893	741	R>*	prostate Congenital disorder of glycosylation with defective fucosylation 2 [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD
rs199515460 RCV000757950 VAR_081648 CA8143836	994	K>Q	Congenital disorder of glycosylation with defective fucosylation 2 CDGF2; unknown pathological significance [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1040737872 CA283459340	2	E>K		No	ClinGen TOPMed gnomAD
CA8142690 rs201790833	3	Q>H		No	ClinGen 1000Genomes ExAC gnomAD
CA8142691 rs769711844	4	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1225096086 CA396558260	7	V>I		No	ClinGen gnomAD
rs1267249189 CA396558316	10	T>A		No	ClinGen gnomAD
TCGA novel	11	V>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8142693 rs748197913	12	I>L		No	ClinGen ExAC TOPMed gnomAD
CA396558343 rs1567695791	12	I>M		No	ClinGen Ensembl
CA283459372 rs748197913	12	I>V		No	ClinGen ExAC TOPMed gnomAD
CA8142695 rs772245753	13	I>F		No	ClinGen ExAC
rs772245753 CA8142694	13	I>L		No	ClinGen ExAC
CA8142696 rs760937384	13	I>T		No	ClinGen ExAC
rs765694378 CA8142700	15	T>I		No	ClinGen ExAC gnomAD
rs201727216 CA8142699	15	T>P		No	ClinGen ExAC gnomAD
CA8142701 rs753175029	17	Q>*		No	ClinGen ExAC TOPMed gnomAD
rs763503298 CA8142702	18	Y>*		No	ClinGen ExAC gnomAD
CA396558454 rs751100550	20	D>E		No	ClinGen ExAC gnomAD
CA283459428 rs1025680440	21	S>T		No	ClinGen Ensembl
CA8142705 rs756863195	22	V>I		No	ClinGen ExAC gnomAD
CA8142706 rs780717198	23	Q>E		No	ClinGen ExAC gnomAD
rs750181274 CA8142707	23	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs1328186441 CA396558480	24	V>F		No	ClinGen gnomAD
rs755890429 CA8142708	24	V>G		No	ClinGen ExAC gnomAD
CA8142709 rs780033403	25	F>V		No	ClinGen ExAC gnomAD
CA283459470 rs1005705961	27	R>K		No	ClinGen Ensembl
TCGA novel	29	L>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1419898570 CA396558532	30	E>Q		No	ClinGen gnomAD
rs140143924 CA8142730	31	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs747072933 CA8142732	32	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
COSM1649278 COSM558738 rs779016102 CA8142731	32	R>W	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA8142733 rs757254446	34	K>R		No	ClinGen ExAC gnomAD
CA283459823 rs888513535	35	R>Q		No	ClinGen TOPMed gnomAD
CA8142734 rs781385329	35	R>W		No	ClinGen ExAC TOPMed gnomAD
CA8142735 rs746067626	36	E>K		No	ClinGen ExAC gnomAD
CA8142736 rs770073301	37	Q>*		No	ClinGen ExAC
CA396558604 rs1401005849	37	Q>H		No	ClinGen gnomAD
rs775768249 CA8142737	39	P>L		No	ClinGen ExAC gnomAD
rs569139301 CA8142740	42	T>K		No	ClinGen 1000Genomes ExAC gnomAD
COSM1379298 CA8142739 rs569139301	42	T>M	large_intestine Variant assessed as Somatic; 9.278e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD
CA396558676 rs1301381264	43	L>P		No	ClinGen TOPMed
TCGA novel	46	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1597608720 CA396558726	47	V>G		No	ClinGen Ensembl
CA8142744 rs760399324	47	V>M		No	ClinGen ExAC TOPMed gnomAD
rs550622605 CA283459913	48	E>V		No	ClinGen Ensembl
rs766134440 CA8142745	49	D>G		No	ClinGen ExAC gnomAD
rs371950142 CA8142746	51	E>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs1249940928 CA396558789	52	K>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs754851794 CA8142747	52	K>N		No	ClinGen ExAC gnomAD
CA396558804 rs1181206449	53	R>C		No	ClinGen TOPMed gnomAD
rs369355398 CA8142750	53	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA8142749 rs369355398	53	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA8142751 rs369355398	53	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs866811411 CA283459932	55	G>D		No	ClinGen Ensembl
CA283459938 COSM1479052 rs201023038	56	S>R	breast [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC gnomAD
CA8142755 rs373425489 CA8142754	57	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA8142756 rs768975149	60	T>I		No	ClinGen ExAC gnomAD
rs1427882811 CA396558899	61	L>V		No	ClinGen TOPMed
rs200603725 CA8142759	63	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1218004111 CA396558957	66	V>L		No	ClinGen gnomAD
CA8142763 rs776392728	67	A>G		No	ClinGen ExAC gnomAD
CA8142764 rs759313314	68	A>S		No	ClinGen ExAC gnomAD
CA8142765 rs764931038	73	A>G		No	ClinGen ExAC gnomAD
rs558228101 CA8142767	74	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs533929498 CA8142766	74	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8142768 rs369275877	75	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA283459972 rs377727682	76	G>V		No	ClinGen ESP TOPMed gnomAD
CA283460957 rs1028242891	80	V>I		No	ClinGen gnomAD
CA8142811 rs374955788	81	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1280152476 CA396560591	82	S>Y		No	ClinGen gnomAD
CA396560598 rs1208947667	83	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs749585090 CA283460965	84	V>I		No	ClinGen Ensembl
CA396560612 rs1484231360	85	L>V		No	ClinGen gnomAD
rs569060403 CA8142814	87	S>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs757784768 CA8142816	88	A>G		No	ClinGen ExAC gnomAD
rs1461408463 CA396560629	88	A>S		No	ClinGen TOPMed
rs1174343988 CA396560642	89	W>C		No	ClinGen gnomAD
CA396560704 rs1171393597	94	H>P		No	ClinGen gnomAD
rs781771130 CA8142817	94	H>Y		No	ClinGen ExAC gnomAD
CA8142819 rs373616691	95	M>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs745326523 CA8142818	95	M>V		No	ClinGen ExAC gnomAD
rs771833222 CA8142843	96	G>S		No	ClinGen ExAC gnomAD
CA8142844 rs772939990	97	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs772939990 CA396561457	97	R>G		No	ClinGen ExAC TOPMed gnomAD
rs1288279655 CA396561461	97	R>Q		No	ClinGen TOPMed gnomAD
CA8142845 rs746962657	98	D>E		No	ClinGen ExAC gnomAD
CA396561505 rs1193929656	100	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	103	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA283461766 rs773180754	105	G>V		No	ClinGen TOPMed gnomAD
rs775584717 CA8142848	107	A>D		No	ClinGen ExAC TOPMed gnomAD
rs775584717 CA8142847	107	A>G		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	107	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs775584717 CA396561652	107	A>V		No	ClinGen ExAC TOPMed gnomAD
rs774687912 CA8142850	109	T>N		No	ClinGen ExAC gnomAD
CA396561677 rs1597613360	109	T>P		No	ClinGen Ensembl
rs1270551958 CA396561697	110	C>S		No	ClinGen TOPMed
rs1388434440 CA396561709	111	L>F		No	ClinGen gnomAD
rs140084649 CA8142852	112	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs376281623 CA8142854	113	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA8142855 rs766808145	116	P>L		No	ClinGen ExAC gnomAD
rs1432345682 CA396561804	116	P>S		No	ClinGen gnomAD
rs199882992 CA8142857	117	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs377358528 CA8142858	118	A>G		No	ClinGen ESP ExAC TOPMed
rs1199820250 CA396561845	118	A>S		No	ClinGen TOPMed
rs377358528 CA283461833	118	A>V		No	ClinGen ESP ExAC TOPMed
CA396561861 rs1282813229	119	P>A		No	ClinGen gnomAD
CA283461836 rs759536913	119	P>L		No	ClinGen Ensembl
rs758111686 CA8142860	120	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1273827513 CA396561931	122	A>D		No	ClinGen TOPMed
TCGA novel	125	C>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8142863 rs374611522	125	C>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA8142865 rs376941268	127	L>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs745836357 CA8142866	127	L>P		No	ClinGen ExAC gnomAD
TCGA novel	129	C>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA396562121 rs1414170836	131	L>M		No	ClinGen gnomAD
rs990963388 CA283461925	131	L>P		No	ClinGen TOPMed
CA396562154 rs772191361	132	D>E		No	ClinGen ExAC gnomAD
rs543223292 COSM1252869 CA8142869	132	D>H	oesophagus [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
TCGA novel	134	M>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1402424797 CA396562226	135	T>N		No	ClinGen gnomAD
rs1397394931 CA396562253	136	Y>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA8142871 rs773568960	137	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs947283993 COSM3771997 COSM3771998 CA283461954	137	R>W	pancreas [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA396562406 rs1369068308	138	L>P		No	ClinGen TOPMed gnomAD
CA396562408 rs1369068308	138	L>R		No	ClinGen TOPMed gnomAD
rs780164688 CA8142905	140	P>L		No	ClinGen ExAC TOPMed gnomAD
CA396562432 rs1385084700	142	S>F		No	ClinGen gnomAD
TCGA novel	142	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8142907 rs572099494	143	P>L		No	ClinGen ExAC TOPMed gnomAD
rs916588858 CA283462430	144	P>L		No	ClinGen TOPMed
CA8142909 rs747191892	144	P>S		No	ClinGen ExAC gnomAD
CA8142912 rs17881323	146	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs17881323 COSM1493754 VAR_021327 CA8142911	146	V>M	kidney [Cosmic]	No	ClinGen cosmic curated UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
TCGA novel	149	C>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8142914 rs775941861	150	S>G		No	ClinGen ExAC gnomAD
rs763561603 CA8142915	150	S>I		No	ClinGen ExAC gnomAD
CA8142917 rs773981829	152	D>N	Variant assessed as Somatic; 4.677e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA8142919 rs144507237	153	M>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA396562541 rs144507237	153	M>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA283462528 rs1047711227	154	L>R		No	ClinGen TOPMed gnomAD
CA396562609 rs1597614908	157	V>I		No	ClinGen Ensembl
rs750196894 CA8142920	158	P>S		No	ClinGen ExAC gnomAD
TCGA novel	161	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs376683810 CA396562842	162	G>A		No	ClinGen ESP ExAC gnomAD
rs376683810 CA8142963	162	G>D		No	ClinGen ESP ExAC gnomAD
rs1423831477 CA396562860	163	I>T		No	ClinGen TOPMed
rs1406342508 CA396562850	163	I>V		No	ClinGen TOPMed gnomAD
CA396562909 rs1436522908	165	W>*		No	ClinGen gnomAD
CA396562938 rs1276128839	166	D>G		No	ClinGen gnomAD
rs756276274 CA8142965	167	S>R		No	ClinGen ExAC TOPMed gnomAD
rs754115396 CA8142967	169	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs370681598 CA8142966	169	R>W	Variant assessed as Somatic; 9.777e-05 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA8142968 rs372937279	172	R>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA396563070 rs1245032225	173	V>A		No	ClinGen gnomAD
rs748651971 CA8142970	174	I>V		No	ClinGen ExAC TOPMed gnomAD
CA396563108 rs1451025311	175	A>D		No	ClinGen gnomAD
CA8142972 rs777359819	175	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA396563113 rs1451025311	175	A>V		No	ClinGen gnomAD
CA8142973 rs746540218	176	L>F		No	ClinGen ExAC gnomAD
TCGA novel	177	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs770665685 CA8142974	178	G>E		No	ClinGen ExAC gnomAD
CA396563154 rs1325487480	178	G>R		No	ClinGen gnomAD
CA8142975 rs546740302	180	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA396563266 rs1270007044	182	Y>C		No	ClinGen TOPMed gnomAD
rs1230497232 CA396563276	183	A>T		No	ClinGen gnomAD
CA396563296 rs1227716442	183	A>V		No	ClinGen TOPMed gnomAD
CA396563303 rs1288433377	184	Q>K		No	ClinGen gnomAD
CA8142979 rs762807369	184	Q>L		No	ClinGen ExAC TOPMed gnomAD
CA396563348 rs952069585	185	N>I		No	ClinGen TOPMed gnomAD
CA283462967 rs952069585	185	N>T		No	ClinGen TOPMed gnomAD
CA8142981 rs773231437	186	H>R		No	ClinGen ExAC gnomAD
CA8142980 rs532510018	186	H>Y		No	ClinGen 1000Genomes ExAC gnomAD
CA396563389 rs1372252645	187	G>D		No	ClinGen gnomAD
CA8142983 rs373589147	188	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	193	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs765399888 CA8143004	195	G>V		No	ClinGen ExAC gnomAD
CA396564315 rs1410942484	196	L>I		No	ClinGen gnomAD
rs758802498 CA8143007	198	L>V		No	ClinGen ExAC gnomAD
TCGA novel	199	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs777293179 CA396564342	200	I>F		No	ClinGen ExAC TOPMed gnomAD
rs756967589 CA396564344	200	I>S		No	ClinGen ExAC TOPMed gnomAD
rs756967589 CA8143010	200	I>T		No	ClinGen ExAC TOPMed gnomAD
rs777293179 CA8143009	200	I>V		No	ClinGen ExAC TOPMed gnomAD
CA8143011 rs200069143	201	Y>*		No	ClinGen ExAC gnomAD
rs745379846 CA8143013	205	T>A		No	ClinGen ExAC gnomAD
rs779717861 CA8143015	207	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1290599760 CA396564398	207	A>V		No	ClinGen gnomAD
CA8143016 rs748982064	209	I>V		No	ClinGen ExAC TOPMed gnomAD
rs530063842 COSM1207646 CA8143018	211	R>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA8143017 rs768420891	211	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1597617362 CA396564485	212	C>*		No	ClinGen Ensembl
rs965344899 CA396564574	216	D>E		No	ClinGen TOPMed gnomAD
CA8143020 rs771909367	216	D>H		No	ClinGen ExAC gnomAD
rs371682423 CA283465705	218	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA283465711 rs374822385	218	R>Q		No	ClinGen ESP gnomAD
CA8143021 rs371682423	218	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA396564632 rs1597617433	219	V>G		No	ClinGen Ensembl
CA8143023 rs770031280	219	V>M		No	ClinGen ExAC TOPMed gnomAD
CA283465727 rs915580422	220	P>Q		No	ClinGen TOPMed gnomAD
rs1428363292 CA396564921	224	G>E		No	ClinGen gnomAD
CA8143049 rs762120135	227	F>L		No	ClinGen ExAC gnomAD
CA283466462 rs1042690143	227	F>V		No	ClinGen Ensembl
rs752810500	228	F>missing	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA396564991 rs1473485582	228	F>L		No	ClinGen gnomAD
CA8143050 rs201690930	228	F>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs936648067 CA283466492	229	S>P		No	ClinGen gnomAD
CA8143051 rs375974483	230	V>M		No	ClinGen ESP ExAC gnomAD
CA283466521 rs922402763	232	T>N		No	ClinGen TOPMed
rs1336895337 CA396565063	233	A>T		No	ClinGen gnomAD
CA396565087 rs1193342255	234	E>K		No	ClinGen TOPMed
CA8143056 rs754568782	235	R>C		No	ClinGen ExAC TOPMed gnomAD
CA8143057 rs200717651 COSM973016	235	R>H	endometrium [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs752432786 CA8143058	236	L>F		No	ClinGen ExAC gnomAD
CA396565171 rs1446338379	238	A>P		No	ClinGen Ensembl
CA8143060 rs777681547	238	A>V		No	ClinGen ExAC gnomAD
rs1597619464 CA396565184	239	T>P		No	ClinGen Ensembl
rs780223326 CA8143063	240	H>R		No	ClinGen ExAC TOPMed gnomAD
rs1402578465 CA396565231	241	V>M		No	ClinGen gnomAD
CA8143064 rs749398861	242	S>N		No	ClinGen ExAC gnomAD
CA8143065 rs779973404	243	P>L		No	ClinGen ExAC TOPMed gnomAD
CA8143066 rs774408221	244	P>R		No	ClinGen ExAC gnomAD
CA8143068 rs748456022	247	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1014314551 CA283466652	248	C>Y		No	ClinGen TOPMed
rs1283876495 CA396565461	252	G>S		No	ClinGen gnomAD
CA283466659 rs970210928	254	D>G		No	ClinGen TOPMed
rs1225643670 CA396565550	255	S>C		No	ClinGen TOPMed gnomAD
rs200140905 CA8143073 CA8143074	256	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs377726598 CA8143076	258	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA8143075 rs574933156	258	R>W		No	ClinGen 1000Genomes ExAC gnomAD
rs370987850 CA8143077	259	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1328658723 CA396565719	262	L>P		No	ClinGen TOPMed
rs764647820 CA8143093	263	S>C		No	ClinGen ExAC TOPMed gnomAD
rs764647820 CA396565725	263	S>F		No	ClinGen ExAC TOPMed gnomAD
CA396565722 rs1597620124	263	S>P		No	ClinGen Ensembl
CA396565744 rs1183807010	266	F>C		No	ClinGen TOPMed gnomAD
rs763826695 CA8143097	272	M>I		No	ClinGen ExAC gnomAD
CA396565786 rs1189510977	272	M>L		No	ClinGen gnomAD
rs113497209 CA8143098	275	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs767472330 CA8143100	276	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA8143101 rs750376944	278	R>S		No	ClinGen ExAC TOPMed gnomAD
CA396565870 rs1476122686	278	R>T		No	ClinGen TOPMed
CA8143102 rs756191118	280	D>Y		No	ClinGen ExAC gnomAD
CA283466889 rs936604155	281	F>S		No	ClinGen Ensembl
rs778792213 CA8143103	282	L>P		No	ClinGen ExAC TOPMed gnomAD
rs1391710273 CA396565942	284	G>W		No	ClinGen gnomAD
rs569060289 CA283466892	285	R>K		No	ClinGen 1000Genomes gnomAD
CA396565961 rs1254708702	285	R>S		No	ClinGen TOPMed
rs199957411 CA8143105	287	P>A		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	288	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	288	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs747278989 CA8143108	290	G>A		No	ClinGen ExAC gnomAD
rs778089333 CA8143107	290	G>R		No	ClinGen ExAC TOPMed gnomAD
CA396566039 rs1235166047	291	Q>R		No	ClinGen gnomAD
CA396566052 rs1271330141	292	G>D		No	ClinGen gnomAD
CA396566059 rs1567701957	293	D>N		No	ClinGen Ensembl
CA8143110 rs781604512	293	D>V		No	ClinGen ExAC TOPMed gnomAD
rs746306484 CA8143111	294	A>V		No	ClinGen ExAC TOPMed gnomAD
CA283466944 rs774105475	295	D>A		No	ClinGen TOPMed
CA283466945 rs774105475	295	D>G		No	ClinGen TOPMed
rs371768148 CA8143113	296	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs200931948 CA8143114	297	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1015716972 CA396566145	299	Y>C		No	ClinGen TOPMed gnomAD
CA283466956 rs1015716972	299	Y>F		No	ClinGen TOPMed gnomAD
rs149553279 CA8143117	303	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs149553279 CA8143118	303	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8143119 rs371944586	304	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs375086164 CA8143121	304	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA8143120 rs371944586	304	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
COSM973017 rs1350324912 CA396566211	305	A>T	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs1246277234 CA396566219	305	A>V		No	ClinGen TOPMed
rs533546546 CA8143123	306	Q>*		No	ClinGen 1000Genomes ExAC gnomAD
rs1292054903 CA396566228	306	Q>R		No	ClinGen gnomAD
rs369289613 CA283466993	307	L>Q		No	ClinGen ESP TOPMed gnomAD
rs757475030 CA396566273	309	R>M		No	ClinGen ExAC gnomAD
rs757475030 CA8143126	309	R>T		No	ClinGen ExAC gnomAD
CA283466998 rs1005810422	310	E>A		No	ClinGen Ensembl
rs1005810422 CA396566287	310	E>G		No	ClinGen Ensembl
CA8143127 rs781473969	312	R>C		No	ClinGen ExAC TOPMed gnomAD
CA396566309 rs1485913913	312	R>H		No	ClinGen gnomAD
CA396566313 rs1485913913	312	R>L		No	ClinGen gnomAD
rs1235412571 CA396566320	313	D>G		No	ClinGen TOPMed
CA8143129 rs372969081	313	D>N		No	ClinGen ESP ExAC TOPMed
rs1567702199 CA396566341	314	Q>H		No	ClinGen Ensembl
rs377164688 CA8143130	317	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs768201316 CA8143132	318	M>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA8143131 rs749811306	318	M>R		No	ClinGen ExAC gnomAD
TCGA novel	318	M>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1365135744 CA396566401	318	M>V		No	ClinGen gnomAD
rs1376442395 CA396566431	319	A>T		No	ClinGen gnomAD
CA8143149 rs749801352	320	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA396567185 rs1197491650	320	Y>H		No	ClinGen gnomAD
CA8143151 rs377735594	321	V>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs1597622621 CA396567209	322	S>P		No	ClinGen Ensembl
CA396567227 rs1199912531	323	S>I		No	ClinGen TOPMed gnomAD
rs1429542245 CA396567229	323	S>R		No	ClinGen gnomAD
rs771810521 CA8143153 COSM344460	324	G>S	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs772970127 CA8143154	325	S>R		No	ClinGen ExAC gnomAD
CA396567269 rs1319863328	326	Y>C		No	ClinGen TOPMed gnomAD
CA8143155 rs746691145	327	S>R		No	ClinGen ExAC TOPMed gnomAD
CA283467621 rs909172317	327	S>T		No	ClinGen TOPMed
rs1597622700 CA396567317	330	T>P		No	ClinGen Ensembl
rs776294750 CA8143158	332	S>P		No	ClinGen ExAC gnomAD
CA8143159 rs574604737	333	A>S		No	ClinGen 1000Genomes ExAC gnomAD
rs574604737 CA8143160	333	A>T		No	ClinGen 1000Genomes ExAC gnomAD
CA8143161 rs774371800	335	E>G		No	ClinGen ExAC gnomAD
CA8143162 rs761847386	338	L>F		No	ClinGen ExAC gnomAD
rs1324636951 CA396567425	338	L>P		No	ClinGen gnomAD
rs933477758 CA283467671	341	T>I		No	ClinGen TOPMed
CA283467672 rs754001619	342	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs1336394107 CA396567491	343	P>L		No	ClinGen gnomAD
CA8143167 rs754172439	344	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1486360353 CA396567507	345	A>T		No	ClinGen gnomAD
rs779595508 CA8143170	348	A>D		No	ClinGen ExAC gnomAD
rs371159895 CA8143169	348	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA8143172 rs757962517	350	I>T		No	ClinGen ExAC TOPMed gnomAD
CA396567603 rs1287114256	350	I>V		No	ClinGen TOPMed
rs374104133 CA8143174	351	V>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA8143173 rs371114615	351	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA396567630 rs770503000	352	H>P		No	ClinGen ExAC TOPMed gnomAD
rs770503000 CA8143175	352	H>R		No	ClinGen ExAC TOPMed gnomAD
rs1357274118 CA396567628	352	H>Y		No	ClinGen TOPMed
CA8143179 rs559963930	353	S>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs559963930 CA396567648	353	S>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8143177 rs745677616	353	S>P		No	ClinGen ExAC gnomAD
CA8143178 rs559963930	353	S>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs962746854 CA283467728	354	Q>*		No	ClinGen Ensembl
rs762932878 CA8143180	354	Q>P		No	ClinGen ExAC TOPMed gnomAD
rs762932878 CA396567654	354	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs1306039095 CA396567733	357	E>*		No	ClinGen TOPMed gnomAD
rs200396056 CA8143211	357	E>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs756696445 CA8143212	358	Q>K		No	ClinGen ExAC gnomAD
CA396567750 rs1274338265	358	Q>L		No	ClinGen gnomAD
CA396567770 rs1309261203	359	Q>H		No	ClinGen gnomAD
CA8143214 rs750069837	362	A>V		No	ClinGen ExAC TOPMed gnomAD
CA396567807 rs1195778545	363	A>T		No	ClinGen gnomAD
rs1008738553 CA283468220	364	G>R		No	ClinGen gnomAD
CA396567846 rs1357592599 COSM1379302	366	S>F	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA8143217 rs766132079 CA283468226	367	V>L		No	ClinGen ExAC gnomAD
CA396567875 rs1167887478	369	S>N		No	ClinGen gnomAD
CA396567911 rs1461632469	372	L>V		No	ClinGen gnomAD
CA396567931 rs375278651	373	E>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA396567941 rs1329653055	374	G>V		No	ClinGen gnomAD
CA8143219 rs200044033	375	P>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1364726851 CA396567959	377	Q>R		No	ClinGen TOPMed gnomAD
rs1324343235 CA396567964	378	L>V		No	ClinGen TOPMed
CA8143221 rs770903882	379	G>S		No	ClinGen ExAC gnomAD
rs1386847399 CA396567974	380	P>A		No	ClinGen TOPMed
CA396567978 rs1364822947	380	P>L		No	ClinGen TOPMed
rs1161653275 CA396567990	382	S>N		No	ClinGen TOPMed
CA396567992 rs776919847	382	S>R		No	ClinGen ExAC TOPMed gnomAD
COSM558735 rs376461962 COSM1649274 CA8143223	383	V>I	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs1449592189 CA396568002	384	L>P		No	ClinGen gnomAD
CA396568022 rs1197948013	387	C>Y		No	ClinGen gnomAD
CA396568029 rs1476331443	388	H>Y		No	ClinGen gnomAD
CA396568038 rs1597624412	389	L>P		No	ClinGen Ensembl
rs775828834 CA8143243	391	G>S		No	ClinGen ExAC gnomAD
CA8143245 rs200941250	392	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA8143244 rs749579594	392	P>S		No	ClinGen ExAC TOPMed gnomAD
rs201944437 CA8143246	394	H>L		No	ClinGen 1000Genomes ExAC gnomAD
rs1158446720 CA396568149	395	I>M		No	ClinGen gnomAD
rs1396121180 CA396568159	396	G>D		No	ClinGen gnomAD
rs865898085 CA283468464	397	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA283468480 rs370125817	398	G>A		No	ClinGen ESP ExAC gnomAD
rs370125817 CA8143250	398	G>D		No	ClinGen ESP ExAC gnomAD
rs991278723 CA283468487	401	V>M		No	ClinGen TOPMed gnomAD
CA396568274 rs765927488	404	L>V		No	ClinGen ExAC TOPMed gnomAD
CA396568285 rs1308220730	405	D>N		No	ClinGen gnomAD
rs1308220730 CA396568290	405	D>Y		No	ClinGen gnomAD
rs753480033 CA8143252	406	T>I		No	ClinGen ExAC TOPMed gnomAD
CA283468504 rs1008269710	408	H>Q		No	ClinGen TOPMed gnomAD
CA283468506 rs1053596033	409	S>P		No	ClinGen TOPMed gnomAD
rs754729649 CA8143253	410	K>Q		No	ClinGen ExAC gnomAD
rs1343588934 CA396568387	411	A>G		No	ClinGen gnomAD
CA396568380 rs1254192104	411	A>T		No	ClinGen gnomAD
rs147558449 CA8143256	415	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs374640774 CA8143255	415	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA396568466 rs1254003563	417	L>M		No	ClinGen gnomAD
rs752659322 CA8143258	418	R>C		No	ClinGen ExAC TOPMed gnomAD
CA8143259 rs140338721	418	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs780346716 CA8143260	421	V>L		No	ClinGen ExAC gnomAD
CA283468555 rs929262277	423	Q>K		No	ClinGen TOPMed gnomAD
rs1371389926 CA396568727	427	T>A		No	ClinGen gnomAD
CA8143262 rs376353924	427	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs376353924 CA8143263	427	T>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1035978768 CA283468563	428	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA8143265 rs551642065	428	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1306166337 CA396568769	429	L>I		No	ClinGen TOPMed
CA396568778 rs1259399025	429	L>P		No	ClinGen gnomAD
CA8143266 rs368134831	430	H>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs991860777 CA283468615	431	G>S		No	ClinGen gnomAD
rs1197549366 CA396568847	432	S>F		No	ClinGen gnomAD
rs201478159 CA8143269	433	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs201478159 CA396568861	433	P>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1208465575 CA396568871	434	G>S		No	ClinGen gnomAD
CA8143271 rs368973788	436	A>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA8143272 rs368973788	436	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1429607585 CA396568967	438	T>A		No	ClinGen gnomAD
CA396568977 rs1196028945	438	T>N		No	ClinGen gnomAD
CA8143273 rs373219795	439	L>H		No	ClinGen ESP ExAC gnomAD
rs764037766 CA8143276	440	V>A		No	ClinGen ExAC TOPMed gnomAD
rs764037766 CA396569022	440	V>D		No	ClinGen ExAC TOPMed gnomAD
rs756236846 CA283468662	440	V>F		No	ClinGen ExAC TOPMed gnomAD
rs756236846 CA8143275	440	V>L		No	ClinGen ExAC TOPMed gnomAD
CA396569035 rs1459212118	441	G>C		No	ClinGen gnomAD
rs751536679 CA8143277	442	R>C		No	ClinGen ExAC gnomAD
rs377241951 CA8143279	442	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8143278 rs377241951	442	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA396569107 rs1597625214	444	D>H		No	ClinGen Ensembl
CA396569143 rs1337696598	445	S>G		No	ClinGen gnomAD
CA8143280 rs753975535	445	S>N		No	ClinGen ExAC gnomAD
CA396569156 rs1293488325	445	S>R		No	ClinGen gnomAD
rs1567705339 CA396569208	447	E>A		No	ClinGen Ensembl
rs755116151 CA8143281	447	E>D		No	ClinGen ExAC gnomAD
CA8143297 rs767523836	448	R>K		No	ClinGen ExAC TOPMed gnomAD
rs767523836 CA396569874	448	R>T		No	ClinGen ExAC TOPMed gnomAD
rs1034719495 CA8143299	449	Q>*		No	ClinGen TOPMed gnomAD
rs544216689 CA283469863	451	A>E		No	ClinGen ExAC gnomAD
CA396569892 rs1393851258	451	A>P		No	ClinGen TOPMed
CA396569891 rs1393851258	451	A>T		No	ClinGen TOPMed
rs544216689 CA8143302	451	A>V		No	ClinGen ExAC gnomAD
rs778922748 CA8143303	452	G>S		No	ClinGen ExAC TOPMed gnomAD
rs917312399 CA283469883	454	Y>H		No	ClinGen Ensembl
CA396569913 rs1209549223	455	L>I		No	ClinGen gnomAD
CA8143305 rs372933428	456	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8143307 rs375968247	457	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA8143309 rs781705874	459	W>R		No	ClinGen ExAC TOPMed gnomAD
CA8143310 rs746415341	460	S>C		No	ClinGen ExAC gnomAD
CA396569947 rs1186910563	460	S>N		No	ClinGen TOPMed
CA8143311 rs769341860	462	F>S		No	ClinGen ExAC TOPMed gnomAD
CA8143312 rs774866946	468	V>I		No	ClinGen ExAC TOPMed gnomAD
CA396570008 rs1400449965	469	R>*		No	ClinGen TOPMed gnomAD
rs200099381 CA8143313	469	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs771899970 CA8143337	470	A>G		No	ClinGen ExAC gnomAD
rs1190845201 CA396570034	471	W>*		No	ClinGen gnomAD
rs935032892 CA283470411	472	D>A		No	ClinGen TOPMed gnomAD
rs772891487 CA8143338	472	D>N		No	ClinGen ExAC TOPMed gnomAD
CA8143339 rs760605356	473	L>Q		No	ClinGen ExAC TOPMed gnomAD
rs1214199013 CA396570050	474	W>*		No	ClinGen TOPMed
rs1351770586 CA396570053	474	W>*		No	ClinGen TOPMed
rs1597628865 CA396570059	475	D>A		No	ClinGen Ensembl
rs764212829 CA8143343	477	E>K		No	ClinGen ExAC gnomAD
rs751772390 CA8143344	478	T>M		No	ClinGen ExAC TOPMed gnomAD
CA8143347 rs750773096	480	P>A		No	ClinGen ExAC gnomAD
CA8143348 rs756602561	480	P>L		No	ClinGen ExAC TOPMed gnomAD
CA8143351 rs754522710	481	A>G		No	ClinGen ExAC TOPMed gnomAD
CA8143350 rs754447175	481	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1214436759 CA396570110	483	Y>*		No	ClinGen gnomAD
CA396570106 rs1597628972	483	Y>S		No	ClinGen Ensembl
CA396570112 rs1165104833	484	C>R		No	ClinGen TOPMed
CA396570129 rs778633729	486	P>L		No	ClinGen ExAC gnomAD
CA8143352 rs778633729	486	P>R		No	ClinGen ExAC gnomAD
TCGA novel	487	S>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA396570136 rs747773026	487	S>R		No	ClinGen ExAC TOPMed gnomAD
CA8143354 rs771639927 COSM1379304	488	A>T	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs777577639 CA8143355	489	R>C		No	ClinGen ExAC gnomAD
rs1472651028 CA396570145	489	R>H		No	ClinGen gnomAD
rs770806029 CA8143357	494	L>P		No	ClinGen ExAC
rs1158640452 CA396570191	496	P>L		No	ClinGen gnomAD
CA8143360 rs768652412	497	S>L		No	ClinGen ExAC TOPMed gnomAD
rs759531686 CA8143359	497	S>P		No	ClinGen ExAC gnomAD
rs1267430816 CA396570201	498	R>K		No	ClinGen TOPMed
CA8143363 rs767661702	499	E>D		No	ClinGen ExAC gnomAD
rs1260089806 CA396570216	501	G>R		No	ClinGen gnomAD
rs760928009 CA8143365	502	P>L		No	ClinGen ExAC TOPMed gnomAD
CA8143366 rs766908433	507	W>G		No	ClinGen ExAC TOPMed gnomAD
CA396570267 rs1240407487	508	M>I		No	ClinGen gnomAD
CA8143367 rs754393801	509	L>P		No	ClinGen ExAC TOPMed gnomAD
rs754393801 CA396570273	509	L>R		No	ClinGen ExAC TOPMed gnomAD
CA396570271 rs1438224751	509	L>V		No	ClinGen gnomAD
rs1479024029 CA396570289	511	H>R		No	ClinGen gnomAD
rs1170875417 CA396570299	512	Q>E		No	ClinGen gnomAD
CA396570347 rs1466336943	514	D>G		No	ClinGen gnomAD
CA8143369 rs755550792	514	D>N		No	ClinGen ExAC TOPMed gnomAD
CA8143368 rs755550792	514	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs1370123561 CA396570355	515	G>R		No	ClinGen TOPMed
CA8143370 rs752172854	516	G>S		No	ClinGen ExAC TOPMed
CA8143373 rs777266722	517	E>K		No	ClinGen ExAC TOPMed gnomAD
rs577792033 CA8143374	518	A>V		No	ClinGen 1000Genomes ExAC gnomAD
CA8143376 rs546703026	520	R>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs745746863 CA8143377	520	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA8143379 rs17881069	521	A>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8143378 rs17881069 VAR_021328	521	A>T		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1168503640 CA396570453	521	A>V		No	ClinGen TOPMed
rs772244985 CA8143381	523	R>Q		No	ClinGen ExAC gnomAD
rs369957269 CA8143380	523	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8143382 rs550917987	524	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA396570488 rs1268560067	525	S>T		No	ClinGen TOPMed gnomAD
rs372869435 CA8143383	526	W>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA396570522 RCV001175523 rs1377077648	527	R>C		No	ClinGen ClinVar dbSNP gnomAD
rs569142534 CA8143384	527	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA396570518 rs1377077648	527	R>S		No	ClinGen gnomAD
CA396570566 rs1421799342	530	W>*		No	ClinGen gnomAD
CA283470721 rs375804257	532	Q>*		No	ClinGen ESP TOPMed gnomAD
rs1314467028 CA396570638	534	Q>R		No	ClinGen TOPMed
CA8143386 rs771865088	535	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1321510474 CA396570712	538	D>E		No	ClinGen gnomAD
CA396570704 rs1388439969	538	D>G		No	ClinGen gnomAD
CA396570699 rs1567707860	538	D>Y		No	ClinGen Ensembl
rs753291011 CA8143389	539	R>G		No	ClinGen ExAC TOPMed gnomAD
rs757830335 CA8143390	539	R>Q		No	ClinGen ExAC gnomAD
CA283470739 rs753291011	539	R>W		No	ClinGen ExAC TOPMed gnomAD
CA8143391 rs763725071	540	A>V		No	ClinGen ExAC TOPMed gnomAD
CA283470768 rs925684095	541	A>D		No	ClinGen Ensembl
rs1290848920 CA396570735	541	A>T		No	ClinGen TOPMed gnomAD
CA396570751 rs1226315873	542	T>A		No	ClinGen TOPMed gnomAD
rs369940276 CA8143392	542	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1052172691 CA396570762	543	L>M		No	ClinGen TOPMed gnomAD
CA283470798 rs917782468	543	L>P		No	ClinGen TOPMed gnomAD
CA283470796 rs1052172691	543	L>V		No	ClinGen TOPMed gnomAD
CA8143396 rs745693760	546	R>C		No	ClinGen ExAC TOPMed gnomAD
CA396570802 rs1195897844	546	R>H		No	ClinGen gnomAD
rs779832150 CA283470829	547	R>L		No	ClinGen ExAC TOPMed gnomAD
rs779832150 CA8143398	547	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA8143397 rs537379806	547	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1165835461 CA396570819	549	L>R		No	ClinGen gnomAD
rs1045656743 CA283470848	550	F>L		No	ClinGen gnomAD
rs868116498 CA283470849	552	R>C		No	ClinGen TOPMed gnomAD
CA396570835 rs868116498	552	R>G		No	ClinGen TOPMed gnomAD
CA8143399 rs749307081	552	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	553	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA396570850 rs772040460	554	A>D		No	ClinGen ExAC TOPMed gnomAD
CA8143400 rs772040460	554	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1337864398 CA396570859	556	H>N		No	ClinGen gnomAD
CA8143401 rs773347744	556	H>R		No	ClinGen ExAC TOPMed gnomAD
CA8143402 rs549295250	557	K>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA283470865 rs370085424	558	A>V		No	ClinGen TOPMed gnomAD
CA396570876 rs567507852	559	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1008064326 CA283470884	559	R>Q		No	ClinGen Ensembl
rs567507852 CA8143404	559	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1257458163 CA396570881	560	H>N		No	ClinGen TOPMed
CA396570886 rs759951573	560	H>Q		No	ClinGen ExAC gnomAD
rs1219506548 CA396570887	561	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs764197033 CA283470905	565	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA283470895 rs997436548	565	R>W		No	ClinGen TOPMed
rs1217820476 CA396570917	566	Q>*		No	ClinGen TOPMed
CA396570921 rs1182606416	566	Q>H		No	ClinGen gnomAD
rs577154807 CA283470926	568	L>F		No	ClinGen TOPMed gnomAD
CA283470929 rs534767610	568	L>R		No	ClinGen 1000Genomes
rs1384430529 CA396570950	571	R>C		No	ClinGen gnomAD
VAR_021329 CA8143406 rs17886171	571	R>H		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA8143407 rs17886171	571	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8143408 rs763516720	572	P>L		No	ClinGen ExAC TOPMed gnomAD
CA396570962 rs1303026164	574	I>L		No	ClinGen TOPMed gnomAD
CA396570980 rs1380850849	576	A>S		No	ClinGen gnomAD
CA8143410 rs201801842	579	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA396570997 rs201801842	579	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA283470952 rs538268173	579	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8143411 rs538268173	579	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8143412 rs377053920	580	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA283470968 rs377649302	583	P>S		No	ClinGen Ensembl
rs926475956 CA396571026	584	G>E		No	ClinGen TOPMed gnomAD
rs755892030 CA283470974	584	G>R		No	ClinGen ExAC TOPMed gnomAD
CA283470988 rs926475956	584	G>V		No	ClinGen TOPMed gnomAD
rs755892030 CA8143414	584	G>W		No	ClinGen ExAC TOPMed gnomAD
rs1237511751 CA396571049	588	A>V		No	ClinGen TOPMed gnomAD
rs1440097783 CA396571052	589	T>A		No	ClinGen gnomAD
rs1180383871 CA396571055	589	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1567708404 CA396571070	592	Q>*		No	ClinGen Ensembl
CA283471007 rs915685571	593	V>L		No	ClinGen TOPMed gnomAD
CA283471596 rs1014951065	595	A>S		No	ClinGen TOPMed gnomAD
rs1423930204 CA396571413	598	G>V		No	ClinGen gnomAD
CA396571433 rs1354374812	601	G>A		No	ClinGen gnomAD
rs771178511 CA8143421	601	G>R		No	ClinGen ExAC gnomAD
rs1210685679 CA396571438	602	V>M		No	ClinGen TOPMed
rs369804910 CA283471625	603	A>T		No	ClinGen Ensembl
rs776974813 CA8143422	603	A>V		No	ClinGen ExAC TOPMed gnomAD
CA283471666 rs906083281	604	A>V		No	ClinGen TOPMed
rs554866648 CA8143425	605	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1201458635 CA396571473	605	R>Q		No	ClinGen gnomAD
CA8143424 rs554866648	605	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1033270999 CA283471677	609	C>G		No	ClinGen TOPMed
CA396571513 rs1397643689	609	C>Y		No	ClinGen TOPMed
rs763316882 CA8143426	611	A>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	612	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8143429 rs370982504	613	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA283471705 rs1002569403	614	L>V		No	ClinGen TOPMed
rs767071265 CA8143430	615	G>D		No	ClinGen ExAC gnomAD
CA283471724 rs1026040391	616	C>Y		No	ClinGen Ensembl
rs1306709064 CA396571613	617	M>I		No	ClinGen gnomAD
CA283471726 rs950466690	617	M>K		No	ClinGen Ensembl
rs1222138175 CA396571617	618	A>T		No	ClinGen gnomAD
CA8143431 rs750073884	620	G>D		No	ClinGen ExAC
rs1015414946 CA283471728	620	G>S		No	ClinGen TOPMed
rs760324729 CA8143432	621	R>C		No	ClinGen ExAC TOPMed gnomAD
rs200371638 CA8143433	621	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs760324729 CA283471741	621	R>S		No	ClinGen ExAC TOPMed gnomAD
rs186275161 CA8143435	625	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs753693664 CA8143434	625	R>W		No	ClinGen ExAC TOPMed gnomAD
rs778880729 CA8143436	626	S>G		No	ClinGen ExAC
rs1165858318 CA396571688	626	S>N		No	ClinGen gnomAD
CA396571695 rs1167483737	627	G>E		No	ClinGen TOPMed gnomAD
CA8143438 rs757404478	627	G>R		No	ClinGen ExAC gnomAD
rs373907136 CA396571707	629	A>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs373907136 CA8143439	629	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs1404933028 CA396571704	629	A>T		No	ClinGen gnomAD
CA8143440 rs577363040	630	A>T		No	ClinGen 1000Genomes ExAC gnomAD
rs770074270 CA8143441	631	N>S		No	ClinGen ExAC gnomAD
rs780240758 CA8143442	632	P>A		No	ClinGen ExAC gnomAD
CA396571726 rs367795956	633	E>K		No	ClinGen ESP TOPMed gnomAD
CA283471802 rs367795956	633	E>Q		No	ClinGen ESP TOPMed gnomAD
CA396571738 rs1228704900	634	W>*		No	ClinGen gnomAD
TCGA novel	634	W>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs749631498 CA8143443	635	M>R		No	ClinGen ExAC gnomAD
rs774825353 CA8143445	636	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs768950026 CA8143444	636	R>W		No	ClinGen ExAC TOPMed gnomAD
CA396571758 rs1488993844	637	P>L		No	ClinGen gnomAD
rs1286101096 CA396571753	637	P>T		No	ClinGen gnomAD
CA396571781 rs1241194243	641	L>M		No	ClinGen gnomAD
rs1292650243 CA396571784	641	L>P		No	ClinGen TOPMed
CA8143447 rs771504232	643	C>G		No	ClinGen ExAC gnomAD
rs936106517 CA283471841	643	C>Y		No	ClinGen TOPMed gnomAD
CA396571807 rs1424581619	645	D>H		No	ClinGen gnomAD
CA8143448 rs772723684	648	A>P		No	ClinGen ExAC gnomAD
CA8143449 rs200436970	648	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8143452 COSM973018 rs200813651	650	V>M	endometrium [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs758419137 CA8143455	654	A>P		No	ClinGen ExAC TOPMed gnomAD
rs758419137 CA396571859	654	A>T		No	ClinGen ExAC TOPMed gnomAD
CA8143456 rs781368790	654	A>V		No	ClinGen ExAC TOPMed gnomAD
rs750558905 CA8143457	656	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA8143458 rs190206934	657	R>K		No	ClinGen 1000Genomes ExAC gnomAD
CA396571883 rs1194365274	657	R>S		No	ClinGen TOPMed
CA396571889 rs1216944299	658	D>E		No	ClinGen gnomAD
rs1211885446 CA396571884	658	D>N		No	ClinGen gnomAD
rs771676730 CA283471917	658	D>V		No	ClinGen Ensembl
TCGA novel	659	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs372943356 CA8143460	660	W>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA8143459 rs780298579	660	W>G		No	ClinGen ExAC gnomAD
rs948259856 CA283471950	663	R>K		No	ClinGen TOPMed
CA396571946 rs1398449593	665	A>D		No	ClinGen gnomAD
rs1398449593 CA396571948	665	A>V		No	ClinGen gnomAD
rs759111569 CA8143471	666	L>W		No	ClinGen ExAC TOPMed gnomAD
CA396571959 rs1328117820	667	L>R		No	ClinGen gnomAD
CA396571964 rs1597633184	668	V>G		No	ClinGen Ensembl
CA396571961 CA8143472 rs765063375	668	V>L		No	ClinGen ExAC TOPMed
CA8143473 rs376479038	669	R>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8143474 rs762940591	669	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1280854985 CA396571968	670	A>T		No	ClinGen gnomAD
CA8143475 rs764090742	670	A>V		No	ClinGen ExAC TOPMed gnomAD
rs35150055 CA8143476	672	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs756205868 CA8143477	672	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs532170114 CA396571994	674	Y>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8143478 rs532170114	674	Y>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1597633264 CA396571993	674	Y>H		No	ClinGen Ensembl
CA396572011 rs1180956205	676	G>A		No	ClinGen TOPMed
rs754026874 CA8143479	676	G>R		No	ClinGen ExAC TOPMed gnomAD
CA396572037 rs1268349279	679	Q>*		No	ClinGen gnomAD
CA396572077 rs1478268716	681	L>P		No	ClinGen gnomAD
CA8143481 rs377513686	683	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA8143482 rs377513686	683	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA8143483 rs371154254	684	Q>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA8143484 rs778233490	685	A>G		No	ClinGen ExAC TOPMed gnomAD
rs1344394547 CA396572140	686	V>A		No	ClinGen gnomAD
CA396572136 rs1300726337	686	V>M		No	ClinGen gnomAD
rs747531326 CA8143485	687	M>I		No	ClinGen ExAC gnomAD
CA396572171 rs1297292493	688	S>L		No	ClinGen gnomAD
rs958312451 CA396572179	689	A>D		No	ClinGen gnomAD
CA396572174 rs1329876832	689	A>T		No	ClinGen gnomAD
rs958312451 CA283472265	689	A>V		No	ClinGen gnomAD
CA8143487 rs375737602	690	Q>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs1567710105 CA396572207	691	H>P		No	ClinGen Ensembl
CA396572261 rs1362204809	694	S>F		No	ClinGen gnomAD
rs1220988666 CA396572297	696	E>D		No	ClinGen gnomAD
rs1291051324 CA396572304	697	Q>*		No	ClinGen gnomAD
CA8143490 rs775319717	697	Q>P		No	ClinGen ExAC gnomAD
rs1259949656 CA396572330	699	E>K		No	ClinGen gnomAD
CA396572348 rs1428181215	700	L>M		No	ClinGen gnomAD
rs1374448810 CA396572356	700	L>R		No	ClinGen TOPMed
CA8143492 rs17883716 VAR_021330	701	P>L		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs761660246 CA8143495	703	P>A		No	ClinGen ExAC gnomAD
CA8143496 rs766424565	704	G>E		No	ClinGen ExAC TOPMed gnomAD
rs1468526185 CA396572415	705	Q>*		No	ClinGen TOPMed
CA396572417 rs1468526185	705	Q>K		No	ClinGen TOPMed
CA396572422 rs1188353148	705	Q>R		No	ClinGen TOPMed
rs1382299354 CA396572443	706	W>*		No	ClinGen gnomAD
CA396572436 rs1567710268	706	W>*		No	ClinGen Ensembl
CA396572454 rs1313878130	707	V>A		No	ClinGen gnomAD
rs755154455 CA8143498	707	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1244349246 CA396572486	710	E>K		No	ClinGen gnomAD
CA8143499 rs765330653	712	P>L		No	ClinGen ExAC TOPMed gnomAD
rs752968614 CA8143500	713	A>G		No	ClinGen ExAC TOPMed gnomAD
CA396572539 rs1208917929	713	A>S		No	ClinGen TOPMed
CA8143501 rs758752837	714	R>C		No	ClinGen ExAC TOPMed gnomAD
rs551672930 CA8143502	714	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs374934502 CA8143504	717	F>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA283472402 rs1006326414	718	S>F		No	ClinGen TOPMed gnomAD
rs759592967 CA8143515	719	G>E		No	ClinGen ExAC TOPMed gnomAD
CA283472462 rs765362360	720	G>A		No	ClinGen ExAC TOPMed gnomAD
CA8143516 rs765362360	720	G>D		No	ClinGen ExAC TOPMed gnomAD
rs752915775 CA8143517	721	W>*		No	ClinGen ExAC gnomAD
rs1430938973 CA396572682	721	W>*		No	ClinGen gnomAD
rs1176140317 CA396572690	722	S>N		No	ClinGen gnomAD
rs371830988 CA8143518	724	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA396572710 rs1296972152	725	P>S		No	ClinGen gnomAD
rs1234370264 CA396572718	726	P>L		No	ClinGen TOPMed
rs1387455904 CA396572722	727	L>V		No	ClinGen gnomAD
rs1321659136 CA396572726	728	A>T		No	ClinGen gnomAD
rs1597634294 CA396572733	729	Y>H		No	ClinGen Ensembl
rs1262202973 CA396572740	730	E>K		No	ClinGen gnomAD
CA396572751 rs1307872831	731	L>R		No	ClinGen gnomAD
rs757677757 CA8143521	732	G>S		No	ClinGen ExAC gnomAD
CA396572763 rs1199485591	733	G>E		No	ClinGen gnomAD
CA8143523 rs372313872	733	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA396572764 rs1479247310	734	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs544431310 CA396572770	735	V>L		No	ClinGen 1000Genomes ExAC gnomAD
CA8143524 rs544431310	735	V>M		No	ClinGen 1000Genomes ExAC gnomAD
rs1412019501 CA396572783	737	G>D		No	ClinGen gnomAD
CA396572780 rs1420594894	737	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA283472587 rs773216109	739	A>V		No	ClinGen TOPMed gnomAD
CA8143526 rs375377209	741	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1404504232 CA396572807 CA396572806	742	V>L		No	ClinGen TOPMed gnomAD
CA396572811 rs1279109615	743	D>N		No	ClinGen gnomAD
rs969881282 CA283472627	744	G>S		No	ClinGen TOPMed gnomAD
TCGA novel	745	R>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8143528 rs778729434	745	R>C		No	ClinGen ExAC TOPMed gnomAD
rs200256917 CA8143529	745	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs200256917 CA396572827	745	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1489644026 CA396572829	746	R>Q		No	ClinGen TOPMed gnomAD
rs773011854 CA8143531	746	R>W		No	ClinGen ExAC TOPMed gnomAD
CA8143532 rs760676227	747	P>R		No	ClinGen ExAC TOPMed gnomAD
rs1567710721 CA396572837	748	I>V		No	ClinGen Ensembl
CA396572847 rs1419334362	749	G>E		No	ClinGen gnomAD
CA396572844 rs1185118153	749	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA8143535 rs763117299	750	A>T		No	ClinGen ExAC gnomAD
rs1166032074 CA396572857	751	R>K		No	ClinGen gnomAD
CA8143536 rs764189604	751	R>S		No	ClinGen ExAC TOPMed gnomAD
rs1319116375 CA396572864	752	A>G		No	ClinGen gnomAD
CA8143537 rs751854740	752	A>T		No	ClinGen ExAC gnomAD
CA8143539 rs766513725	753	R>C		No	ClinGen ExAC TOPMed gnomAD
rs1268190695 CA396572870	753	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA396572869 rs1268190695	753	R>L		No	ClinGen TOPMed gnomAD
CA8143540 rs750892267	754	R>C		No	ClinGen ExAC TOPMed gnomAD
rs750892267 CA396572871	754	R>G		No	ClinGen ExAC TOPMed gnomAD
rs900208616 COSM1679236 COSM1679235 CA283472721	754	R>H	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed
CA283472715 rs750892267	754	R>S		No	ClinGen ExAC TOPMed gnomAD
CA396572875 rs1303494104	755	I>V		No	ClinGen TOPMed
rs371988447 CA8143541	756	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8143542 rs371988447	756	P>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1246544934 CA396572882	756	P>S		No	ClinGen gnomAD
CA8143544 rs754558003	758	P>A		No	ClinGen ExAC gnomAD
rs778409956 CA8143545	759	E>K		No	ClinGen ExAC TOPMed gnomAD
rs747895504 CA8143546	763	A>V		No	ClinGen ExAC TOPMed gnomAD
CA283472745 rs890284214	764	V>M		No	ClinGen gnomAD
rs1251241580 CA396572943	766	P>L		No	ClinGen TOPMed
CA283472761 rs933786785	766	P>T		No	ClinGen TOPMed gnomAD
CA8143549 COSM3691130 COSM194840 rs572464313	767	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD
CA8143548 rs376138712	767	R>W		No	ClinGen ESP ExAC gnomAD
rs776587078 CA8143551	768	Q>*		No	ClinGen ExAC gnomAD
CA8143552 rs369163057	768	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs1597634927 CA396572957	769	D>G		No	ClinGen Ensembl
rs34993175 CA283472795	769	D>Y		No	ClinGen Ensembl
rs540532684 CA8143553	770	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs774430621 CA8143554	771	M>V		No	ClinGen ExAC gnomAD
RCV000970018 rs149607813 CA8143555	772	T>A		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs767714892 CA8143556	773	V>E		No	ClinGen ExAC
rs773733415 CA8143557	774	K>E		No	ClinGen ExAC gnomAD
rs1283157337 CA396572997	775	I>T		No	ClinGen gnomAD
CA396572994 rs1221669281	775	I>V		No	ClinGen gnomAD
rs761223598 CA8143558	776	V>M		No	ClinGen ExAC gnomAD
CA8143559 rs766961706	778	R>P		No	ClinGen ExAC TOPMed gnomAD
CA8143560 rs766961706	778	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs201319740 CA283472896	778	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA396573027 rs1372597431	780	L>R		No	ClinGen TOPMed
rs1234611844 CA396573024	780	L>V		No	ClinGen TOPMed gnomAD
rs1430207985 CA396573033	781	A>V		No	ClinGen gnomAD
CA8143562 CA396573040 rs764870652	782	D>E		No	ClinGen ExAC gnomAD
rs199671104 CA8143563	783	L>P		No	ClinGen ExAC TOPMed gnomAD
CA8143566 rs368736266	784	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA8143565 rs368736266	784	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs758086643 CA8143564	784	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1434373473 CA396573051	785	D>G		No	ClinGen TOPMed
CA396573047 rs1336975015	785	D>N		No	ClinGen gnomAD
CA396573063 rs757089566	787	C>R		No	ClinGen ExAC gnomAD
CA8143567 rs757089566	787	C>S		No	ClinGen ExAC gnomAD
CA8143569 rs745882827	788	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA8143568 rs781092085	788	Q>R		No	ClinGen ExAC gnomAD
rs1225041547 CA396573081	789	P>L		No	ClinGen gnomAD
CA396573084 rs1161446980	790	H>Y		No	ClinGen TOPMed
rs1020317390 CA283472944	792	P>A		No	ClinGen TOPMed gnomAD
rs1202443806 CA396573099	792	P>R		No	ClinGen gnomAD
rs768551060 CA8143570 CA8143571	793	G>R		No	ClinGen ExAC TOPMed gnomAD
rs780967695 CA8143587	794	A>S		No	ClinGen ExAC TOPMed gnomAD
CA396573125 rs780967695	794	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA8143589 rs756099434	796	L>P		No	ClinGen ExAC gnomAD
rs1298180576 CA396573186	798	A>G		No	ClinGen TOPMed gnomAD
CA8143590 rs377203828	798	A>T		No	ClinGen ESP ExAC gnomAD
rs1298180576 CA396573187	798	A>V		No	ClinGen TOPMed gnomAD
CA396573201 rs1228250201	799	A>V		No	ClinGen gnomAD
CA396573206 rs1316390988	800	F>L		No	ClinGen gnomAD
CA8143592 rs772327700	801	I>T		No	ClinGen ExAC gnomAD
rs1461162346 CA396573261	803	A>V		No	ClinGen TOPMed
CA396573270 rs1265000846	804	G>E		No	ClinGen gnomAD
CA396573278 rs1486315306	805	I>V		No	ClinGen gnomAD
rs1454295138 CA396573305	806	V>A		No	ClinGen TOPMed
CA8143594 COSM1749740 COSM1749739 rs747304625	806	V>M	urinary_tract Variant assessed as Somatic; 5.05e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA8143595 rs771358427	807	H>P		No	ClinGen ExAC gnomAD
CA396573314 rs771358427	807	H>R		No	ClinGen ExAC gnomAD
TCGA novel	808	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8143596 rs200793397	810	S>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA396573383 rs1161117073	812	L>F		No	ClinGen gnomAD
rs962168640 CA283473365	813	Q>H		No	ClinGen TOPMed gnomAD
rs370118908 CA8143597	816	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA396573459 rs1250952648	817	Q>*		No	ClinGen TOPMed
CA8143598 rs770299466	818	L>M		No	ClinGen ExAC gnomAD
CA8143599 rs374637768	820	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs762507843 CA8143600	820	R>H		No	ClinGen ExAC gnomAD
rs762507843 CA396573506	820	R>L		No	ClinGen ExAC gnomAD
rs751144364 CA8143602	823	G>A		No	ClinGen ExAC gnomAD
rs1451186630 CA396573540	823	G>R		No	ClinGen TOPMed gnomAD
rs1241387284 CA396573567	825	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA396573655 rs1328794238	830	T>I		No	ClinGen TOPMed gnomAD
CA396573651 rs1328794238	830	T>N		No	ClinGen TOPMed gnomAD
CA396573666 rs1207852586	831	W>L		No	ClinGen gnomAD
rs1597636575 CA396573658	831	W>R		No	ClinGen Ensembl
rs750263023 CA8143605	835	P>T		No	ClinGen ExAC gnomAD
CA8143606 rs755902729	836	H>P		No	ClinGen ExAC gnomAD
CA8143608 rs780019583	836	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA8143609 rs758549850	837	G>S		No	ClinGen ExAC TOPMed gnomAD
CA8143610 rs778007248	838	S>C		No	ClinGen ExAC gnomAD
CA396573774 rs1409285525	839	G>S		No	ClinGen gnomAD
rs781376107 CA8143613	841	G>S		No	ClinGen ExAC gnomAD
rs547891392 CA8143637	843	S>N		No	ClinGen 1000Genomes ExAC gnomAD
rs1208307967 CA396573844	844	S>N		No	ClinGen TOPMed
rs771494760 CA8143639	846	L>P		No	ClinGen ExAC gnomAD
rs1448769237 CA396573889	847	A>G		No	ClinGen TOPMed
CA396573881 rs1190962092	847	A>T		No	ClinGen gnomAD
rs1420747774 CA396573909	849	T>A		No	ClinGen gnomAD
CA8143640 rs772853697	849	T>S		No	ClinGen ExAC gnomAD
CA8143641 rs760309838	850	A>T		No	ClinGen ExAC TOPMed gnomAD
CA396573996 rs1295493279	855	Q>R		No	ClinGen TOPMed
rs766181080 CA8143642	856	R>*		No	ClinGen ExAC TOPMed gnomAD
CA8143643 rs776613442	856	R>P		No	ClinGen ExAC gnomAD
rs776613442 CA396574007	856	R>Q		No	ClinGen ExAC gnomAD
RCV001175524 CA283473652 rs17884050	858	A>S		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs17884050 CA8143645 VAR_021331	858	A>T		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1436114191 CA396574042	859	G>R		No	ClinGen TOPMed gnomAD
rs757342983 CA8143647	860	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA8143646 rs752699428	860	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1597637376 CA396574071	861	V>G		No	ClinGen Ensembl
rs17878599 VAR_021332 CA8143648 RCV000965332	861	V>M		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA396574081 rs1246038089	862	V>A		No	ClinGen TOPMed gnomAD
rs1246038089 CA396574084	862	V>G		No	ClinGen TOPMed gnomAD
CA8143649 rs750647637	862	V>L		No	ClinGen ExAC TOPMed gnomAD
CA396574109 rs370391879	864	T>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA8143652 rs370391879	864	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA8143656 rs748657188	866	A>S		No	ClinGen ExAC TOPMed gnomAD
rs748657188 CA8143655	866	A>T		No	ClinGen ExAC TOPMed gnomAD
rs772654359 CA8143657	866	A>V		No	ClinGen ExAC TOPMed gnomAD
CA8143658 rs746649114	867	L>P		No	ClinGen ExAC gnomAD
CA8143660 rs770527523	869	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA396574190 rs1411726809	870	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs570409959 CA283473762	870	A>V		No	ClinGen 1000Genomes gnomAD
CA396574211 rs1345529177	871	V>A		No	ClinGen gnomAD
rs1318345244 CA396574222	872	L>P		No	ClinGen gnomAD
CA8143663 rs775567216	873	H>Y		No	ClinGen ExAC gnomAD
rs762858394 CA8143664 COSM1749741 COSM1749742	875	E>Q	urinary_tract [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs767614228 CA8143665	878	L>F		No	ClinGen ExAC TOPMed gnomAD
CA283473773 rs767614228	878	L>V		No	ClinGen ExAC TOPMed gnomAD
CA396574306 rs1284558096	879	T>S		No	ClinGen gnomAD
CA8143666 rs750510416	880	T>I		No	ClinGen ExAC gnomAD
CA8143667 rs750510416	880	T>S		No	ClinGen ExAC gnomAD
CA8143695 rs778089170	882	G>D		No	ClinGen ExAC TOPMed gnomAD
CA396574641 rs1334523968	883	G>D		No	ClinGen TOPMed
CA396574647 rs1468419266	884	W>*		No	ClinGen TOPMed
rs1387341851 CA396574655	885	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs563951519 CA8143697	886	D>Y		No	ClinGen 1000Genomes ExAC gnomAD
rs769612865 CA8143700	889	G>S		No	ClinGen ExAC gnomAD
rs372403072 CA8143701	890	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA8143702 rs748988530	892	M>V		No	ClinGen ExAC gnomAD
rs979713201 CA283477132	895	I>V		No	ClinGen TOPMed
rs774089367 CA8143704	897	V>L		No	ClinGen ExAC gnomAD
CA8143706 rs770983236	898	G>E		No	ClinGen ExAC gnomAD
CA8143707 COSM3377947 COSM3377946 rs116501877	899	R>C	pancreas [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs759721515 CA8143708	899	R>H		No	ClinGen ExAC TOPMed gnomAD
rs765401214 CA396574746	900	S>P		No	ClinGen ExAC gnomAD
rs765401214 CA8143709	900	S>T		No	ClinGen ExAC gnomAD
CA8143711 rs201287158	901	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8143710 rs17881635 VAR_021333	901	R>W		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA8143712 rs764590076	902	A>P		No	ClinGen ExAC TOPMed gnomAD
CA8143713 rs752000788	903	Q>P		No	ClinGen ExAC gnomAD
rs755709267 CA8143719	907	K>N		No	ClinGen ExAC TOPMed gnomAD
rs779516540 CA8143720	908	V>A		No	ClinGen ExAC
CA8143721 rs748975276	909	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1597642916 CA396574806	910	V>G		No	ClinGen Ensembl
rs200944357 CA8143723	914	T>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8143722 rs200944357	914	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	917	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1312850521 CA396574857	918	G>D		No	ClinGen TOPMed
rs748011697 CA8143724	918	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1390418903 CA396574874	921	Q>*		No	ClinGen gnomAD
rs199971372 CA8143725	922	K>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8143726 rs773162023	924	N>D		No	ClinGen ExAC gnomAD
rs369090482 CA8143727	924	N>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs369090482 CA8143728	924	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	925	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1400393938 CA396574912	926	H>Q		No	ClinGen TOPMed
rs775505230 CA8143729	926	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA396574934 rs1265050219	930	V>A		No	ClinGen gnomAD
CA8143730 rs763297173	930	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA396574937 rs1382838212	931	Y>H		No	ClinGen TOPMed
rs532339080 CA283477367	932	T>A		No	ClinGen gnomAD
CA396574963 rs1463440908	933	G>V		No	ClinGen gnomAD
rs774821864 CA8143733	934	K>M		No	ClinGen ExAC gnomAD
CA8143734 rs762300882	935	T>I		No	ClinGen ExAC gnomAD
CA396574983 rs1597643099	935	T>P		No	ClinGen Ensembl
CA8143735 rs200925079	936	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA8143736 rs199722781	936	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs199722781 CA283477404	936	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1476568804 CA396575011	937	L>R		No	ClinGen TOPMed
rs17886060 VAR_021334 CA8143738	939	R>Q		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
VAR_021335 rs17883248 CA8143737	939	R>W		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA396575057 rs1457130070	941	L>V		No	ClinGen gnomAD
CA283477551 rs1049651995	945	V>M		No	ClinGen gnomAD
rs1249132352 CA396575192	948	S>N		No	ClinGen gnomAD
rs1482555569 CA396575219	951	A>G		No	ClinGen gnomAD
CA396575221 rs1192132355	952	R>*		No	ClinGen TOPMed gnomAD
rs777607374 CA8143764	952	R>P		No	ClinGen ExAC TOPMed gnomAD
CA8143763 rs777607374	952	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1325425457 CA396575224	953	L>F		No	ClinGen TOPMed
rs545722467 CA8143765	954	P>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8143766 rs781025611	955	A>S		No	ClinGen ExAC gnomAD
rs1405837714 CA396575240	956	V>L		No	ClinGen TOPMed
CA396575249 rs768633106	957	V>A		No	ClinGen ExAC TOPMed gnomAD
CA8143768 rs768633106	957	V>G		No	ClinGen ExAC TOPMed gnomAD
CA8143769 rs557189476	958	Q>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs557189476 CA396575251	958	Q>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs748449383 CA8143770	958	Q>H		No	ClinGen ExAC gnomAD
TCGA novel	959	N>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1444974923 CA396575274	961	H>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA396575279 rs1293830589	962	S>G		No	ClinGen gnomAD
rs74613280 CA8143771	962	S>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA396575296 rs528370718	965	R>G		No	ClinGen ExAC TOPMed gnomAD
CA8143773 rs761231496	965	R>P		No	ClinGen ExAC TOPMed gnomAD
rs761231496 CA8143774	965	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs528370718 CA8143772	965	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA8143775 rs777023613	966	Q>R		No	ClinGen ExAC gnomAD
TCGA novel	966	Q>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs759026993 CA8143776	967	T>A		No	ClinGen ExAC gnomAD
rs75025318 CA283477635	968	E>K		No	ClinGen 1000Genomes TOPMed gnomAD
rs75025318 CA283477636	968	E>Q		No	ClinGen 1000Genomes TOPMed gnomAD
CA8143778 rs752339016	969	E>A		No	ClinGen ExAC gnomAD
CA8143777 rs764653879	969	E>K		No	ClinGen ExAC gnomAD
TCGA novel	971	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1248774675 CA396575340	972	E>A		No	ClinGen TOPMed gnomAD
rs1248774675 CA396575339	972	E>G		No	ClinGen TOPMed gnomAD
CA396575348 rs762646193	973	G>A		No	ClinGen ExAC gnomAD
CA396575344 rs1178486738	973	G>S		No	ClinGen TOPMed
CA8143779 rs762646193	973	G>V		No	ClinGen ExAC gnomAD
CA8143780 COSM973019 rs762425961	975	R>C	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs528834068 CA8143781	975	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1396906114 CA396575371	977	G>*		No	ClinGen TOPMed gnomAD
rs1270542475 CA396575403	980	P>R		No	ClinGen gnomAD
CA396575415 rs1308172389	983	G>S		No	ClinGen gnomAD
rs1372014990 CA396575420	983	G>V		No	ClinGen gnomAD
COSM1238947 CA8143828 rs371789974	985	C>Y	oesophagus [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA8143829 rs764333932	987	T>I		No	ClinGen ExAC gnomAD
rs540730922 CA8143831	988	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
rs1387232001 CA396575457	989	Y>*		No	ClinGen TOPMed
CA396575452 rs1255041654	989	Y>H		No	ClinGen TOPMed gnomAD
rs1159277280 CA396575468	991	E>K		No	ClinGen TOPMed
rs181800639 CA8143834	992	Q>*		No	ClinGen 1000Genomes ESP TOPMed gnomAD
TCGA novel	993	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs199515460 CA8143837	994	K>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8143838 rs186359879	996	M>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs768143099 CA8143839	998	P>A		No	ClinGen ExAC gnomAD
rs768143099 CA396575518	998	P>S		No	ClinGen ExAC gnomAD
CA8143840 rs778338144	1000	C>Y		No	ClinGen ExAC gnomAD
rs1476489417 CA396575535	1001	E>K		No	ClinGen TOPMed gnomAD
rs371645894 CA8143842	1005	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs371645894 CA283478446	1005	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs377157126 CA8143844	1006	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs372940483 CA8143845	1006	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA8143843 rs377157126	1006	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs770851514 CA8143846	1007	R>C		No	ClinGen ExAC TOPMed gnomAD
CA8143847 rs201350190	1007	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs201350190 CA8143848	1007	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	1008	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs952696206 CA283478449	1008	M>L		No	ClinGen TOPMed
CA283478454 rs984432808	1008	M>R		No	ClinGen TOPMed
CA8143849 rs764209553	1009	M>I		No	ClinGen ExAC TOPMed gnomAD
rs1391048819 CA396575632	1009	M>T		No	ClinGen gnomAD
CA8143851 rs761976898	1012	L>P		No	ClinGen ExAC gnomAD
CA396575689 rs1567716186	1013	A>T		No	ClinGen Ensembl
CA8143855 rs750666249	1013	A>V		No	ClinGen ExAC gnomAD
CA396575711 rs756466817	1014	P>L		No	ClinGen ExAC TOPMed gnomAD
CA8143856 rs756466817	1014	P>R		No	ClinGen ExAC TOPMed gnomAD
rs191210378 CA8143859	1015	H>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs191210378 CA8143857	1015	H>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs754711319	1015	H>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA8143858 rs191210378	1015	H>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	1016	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8143861 rs375450811	1016	V>M		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1022	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1271042407 CA396575842	1023	G>A		No	ClinGen gnomAD
rs200822475 CA8143862	1026	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA gnomAD
CA8143863 rs777223721	1028	G>V		No	ClinGen ExAC TOPMed gnomAD
CA8143866 rs746722160	1031	Y>C		No	ClinGen ExAC gnomAD
rs528230423 CA8143868	1032	L>V		No	ClinGen 1000Genomes ExAC gnomAD
rs759511820 CA8143869	1034	T>S		No	ClinGen ExAC TOPMed gnomAD
rs769571864 CA8143870	1035	K>T		No	ClinGen ExAC gnomAD
TCGA novel	1036	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1467048243 CA396576010	1036	E>K		No	ClinGen gnomAD
CA8143872 rs370955883	1037	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA8143873 rs767706204	1038	Q>*		No	ClinGen ExAC gnomAD
CA8143874 rs546675701	1040	K>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs760937597 CA8143875	1041	E>Q		No	ClinGen ExAC gnomAD
CA8143876 rs766699549	1045	A>V		No	ClinGen ExAC TOPMed gnomAD
rs374126654 CA8143878	1046	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA8143882 rs777395767	1051	E>D		No	ClinGen ExAC gnomAD
CA8143881 rs757838629	1051	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs573387682 CA8143903	1052	G>D		No	ClinGen 1000Genomes ExAC gnomAD
CA396576250 rs1265179111	1052	G>R		No	ClinGen TOPMed
CA396576263 rs1173153403	1053	L>F		No	ClinGen gnomAD
rs1416364371 CA396576271	1053	L>R		No	ClinGen gnomAD
rs372307722 CA283478757	1056	Y>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA8143906 rs779949834	1058	I>S		No	ClinGen ExAC gnomAD
CA8143908 rs768599884	1059	H>L		No	ClinGen ExAC gnomAD
CA8143909 rs768599884	1059	H>R		No	ClinGen ExAC gnomAD
rs749149292 CA8143907	1059	H>Y		No	ClinGen ExAC gnomAD
CA8143910 rs747031435	1060	L>M		No	ClinGen ExAC gnomAD
CA8143911 rs771003295	1061	V>A		No	ClinGen ExAC TOPMed gnomAD
CA8143912 rs771003295	1061	V>D		No	ClinGen ExAC TOPMed gnomAD
rs759856940 CA8143913	1064	D>E		No	ClinGen ExAC
rs1342360812 CA396576474	1067	G>D		No	ClinGen gnomAD
rs1383630149 CA396576550	1073	L>P		No	ClinGen gnomAD
CA8143917 rs371908996 CA396576553	1074	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA8143920 rs559026788	1076	E>D		No	ClinGen 1000Genomes ExAC gnomAD
CA8143919 rs201547486	1076	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs750022807 CA8143921	1078	S>L		No	ClinGen ExAC gnomAD
rs755830985 CA8143922	1079	T>I		No	ClinGen ExAC gnomAD
CA8143924 rs372649965	1081	C>W		No	ClinGen ESP ExAC gnomAD
CA8143927 rs748150107	1083	F>L		No	ClinGen ExAC TOPMed gnomAD
CA8143926 rs180673806	1083	F>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA283478947 rs964651122	1084	P>A		No	ClinGen gnomAD
CA8143929 rs753730529	1084	P>L		No	ClinGen ExAC TOPMed gnomAD
rs964651122 CA396576645	1084	P>S		No	ClinGen gnomAD
rs770015143 CA8143931	1085	P>G		No	ClinGen ExAC gnomAD

1 associated diseases with Q8N0W3

[MIM: 618324]: Congenital disorder of glycosylation with defective fucosylation 2 (CDGF2)

A form of congenital disorder of glycosylation, a genetically heterogeneous group of multisystem disorders caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. CDGF2 is an autosomal recessive disorder, apparent from birth, characterized by hypotonia, poor feeding, severely impaired intellectual and psychomotor development, seizures with epileptic encephalopathy, visual impairment and other ocular features, respiratory difficulty with frequent infections, as well as contractures. Brain imaging shows cerebellar and brainstem atrophy, hypoplasia or agenesis of the corpus callosum, and white matter abnormalities including periventricular leukomalacia. {ECO:0000269|PubMed:30503518}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

A form of congenital disorder of glycosylation, a genetically heterogeneous group of multisystem disorders caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. CDGF2 is an autosomal recessive disorder, apparent from birth, characterized by hypotonia, poor feeding, severely impaired intellectual and psychomotor development, seizures with epileptic encephalopathy, visual impairment and other ocular features, respiratory difficulty with frequent infections, as well as contractures. Brain imaging shows cerebellar and brainstem atrophy, hypoplasia or agenesis of the corpus callosum, and white matter abnormalities including periventricular leukomalacia. {ECO:0000269|PubMed:30503518}. Note=The disease is caused by variants affecting the gene represented in this entry.

3 regional properties for Q8N0W3

Type	Name	Position	InterPro Accession
domain	Factor of DNA methylation 1-5/IDN2, domain XH	501 - 632	IPR005379
domain	XS domain	115 - 224	IPR005380
domain	Zinc finger-XS domain	42 - 84	IPR005381

Functions

		Description
EC Number	2.7.1.52	Phosphotransferases with an alcohol group as acceptor
Subcellular Localization
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

1 GO annotations of cellular component

Name	Definition
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.

2 GO annotations of molecular function

Name	Definition
ATP binding	Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
fucokinase activity	Catalysis of the reaction: L-fucose + ATP = beta-L-fucose 1-phosphate + ADP + 2 H(+).

3 GO annotations of biological process

Name	Definition
carbohydrate phosphorylation	The process of introducing a phosphate group into a carbohydrate, any organic compound based on the general formula Cx(H2O)y.
GDP-L-fucose salvage	The formation of GDP-L-fucose from L-fucose, without de novo synthesis. L-fucose is phosphorylated by fucokinase and then converted by fucose-1-phosphate guanylyltransferase (EC:2.7.7.30).
response to dopamine	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a dopamine stimulus.

1 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q9LNJ9	FKGP	Bifunctional fucokinase/fucose pyrophosphorylase	Arabidopsis thaliana (Mouse-ear cress)	PR

10	20	30	40	50	60
MEQPKGVDWT	VIILTCQYKD	SVQVFQRELE	VRQKREQIPA	GTLLLAVEDP	EKRVGSGGAT
70	80	90	100	110	120
LNALLVAAEH	LSARAGFTVV	TSDVLHSAWI	LILHMGRDFP	FDDCGRAFTC	LPVENPEAPV
130	140	150	160	170	180
EALVCNLDCL	LDIMTYRLGP	GSPPGVWVCS	TDMLLSVPAN	PGISWDSFRG	ARVIALPGSP
190	200	210	220	230	240
AYAQNHGVYL	TDPQGLVLDI	YYQGTEAEIQ	RCVRPDGRVP	LVSGVVFFSV	ETAERLLATH
250	260	270	280	290	300
VSPPLDACTY	LGLDSGARPV	QLSLFFDILH	CMAENVTRED	FLVGRPPELG	QGDADVAGYL
310	320	330	340	350	360
QSARAQLWRE	LRDQPLTMAY	VSSGSYSYMT	SSASEFLLSL	TLPGAPGAQI	VHSQVEEQQL
370	380	390	400	410	420
LAAGSSVVSC	LLEGPVQLGP	GSVLQHCHLQ	GPIHIGAGCL	VTGLDTAHSK	ALHGRELRDL
430	440	450	460	470	480
VLQGHHTRLH	GSPGHAFTLV	GRLDSWERQG	AGTYLNVPWS	EFFKRTGVRA	WDLWDPETLP
490	500	510	520	530	540
AEYCLPSARL	FPVLHPSREL	GPQDLLWMLD	HQEDGGEALR	AWRASWRLSW	EQLQPCLDRA
550	560	570	580	590	600
ATLASRRDLF	FRQALHKARH	VLEARQDLSL	RPLIWAAVRE	GCPGPLLATL	DQVAAGAGDP
610	620	630	640	650	660
GVAARALACV	ADVLGCMAEG	RGGLRSGPAA	NPEWMRPFSY	LECGDLAAGV	EALAQERDKW
670	680	690	700	710	720
LSRPALLVRA	ARHYEGAGQI	LIRQAVMSAQ	HFVSTEQVEL	PGPGQWVVAE	CPARVDFSGG
730	740	750	760	770	780
WSDTPPLAYE	LGGAVLGLAV	RVDGRRPIGA	RARRIPEPEL	WLAVGPRQDE	MTVKIVCRCL
790	800	810	820	830	840
ADLRDYCQPH	APGALLKAAF	ICAGIVHVHS	ELQLSEQLLR	TFGGGFELHT	WSELPHGSGL
850	860	870	880	890	900
GTSSILAGTA	LAALQRAAGR	VVGTEALIHA	VLHLEQVLTT	GGGWQDQVGG	LMPGIKVGRS
910	920	930	940	950	960
RAQLPLKVEV	EEVTVPEGFV	QKLNDHLLLV	YTGKTRLARN	LLQDVLRSWY	ARLPAVVQNA
970	980	990	1000	1010	1020
HSLVRQTEEC	AEGFRQGSLP	LLGQCLTSYW	EQKKLMAPGC	EPLTVRRMMD	VLAPHVHGQS
1030	1040	1050	1060	1070	1080
LAGAGGGGFL	YLLTKEPQQK	EALEAVLAKT	EGLGNYSIHL	VEVDTQGLSL	KLLGTEASTC

CPFP