AiPD: Autoinhibited Protein Database

P29317

Gene name	EPHA2 (ECK)
Protein name	Ephrin type-A receptor 2
Names	EC 2.7.10.1 , Epithelial cell kinase , Tyrosine-protein kinase receptor ECK
Species	Homo sapiens (Human)
KEGG Pathway	hsa:1969
EC number	2.7.10.1: Protein-tyrosine kinases
Protein Class

Descriptions

Ephrin type-B receptor 2 is a membrane-associated protein that mediates axon guidance, cell migration and morphogenesis. The Eph receptor tyrosine kinase family is regulated by autophosphorylation within the juxtamembrane region and the kinase activation segment. The structure, supported by mutagenesis data, reveals that the juxtamembrane segment adopts a helical conformation that distorts the small lobe of the kinase domain, and blocks the activation segment from attaining an activated conformation. Phosphorylation of the conserved juxtamembrane tyrosines would relieve this autoinhibition by disturbing the association of the juxtamembrane segment with the kinase domain, while liberating phosphotyrosine sites for binding SH2 domains of target proteins.

Autoinhibitory domains (AIDs)

587-613 (Juxtamembrane domain) SS

Target domain	613-875 (Protein kinase domain)
Relief mechanism	PTM
Assay

AID

587-613 (Juxtamembrane domain)

Target domain

613-875 (Protein kinase domain)

Relief mechanism

PTM (Phosphorylation of juxtamembrane domain)

Assay

532-563 (Juxtamembrane domain) SS

Target domain	613-875 (Protein kinase domain)
Relief mechanism	PTM
Assay

AID

532-563 (Juxtamembrane domain)

Target domain

613-875 (Protein kinase domain)

Relief mechanism

PTM (Phosphorylation of juxtamembrane domain)

Assay

Accessory elements

756-782 (Activation loop from InterPro)

Target domain	613-875 (Protein kinase domain)
Relief mechanism
Assay

756-782 (Activation loop from InterPro)

Target domain	613-875 (Protein kinase domain)
Relief mechanism
Assay

References

Yeon JH et al. (2016) "Systems-wide Identification of cis-Regulatory Elements in Proteins", Cell systems, 2, 89-100

Hubbard SR (2004) "Juxtamembrane autoinhibition in receptor tyrosine kinases", Nature reviews. Molecular cell biology, 5, 464-71

Wybenga-Groot LE et al. (2001) "Structural basis for autoinhibition of the Ephb2 receptor tyrosine kinase by the unphosphorylated juxtamembrane region", Cell, 106, 745-57

Craddock BP et al. (2007) "Autoinhibition of the insulin-like growth factor I receptor by the juxtamembrane region", FEBS letters, 581, 3235-40

Huang X et al. (2009) "Structural insights into the inhibited states of the Mer receptor tyrosine kinase", Journal of structural biology, 165, 88-96

Uchikawa E et al. (2019) "Activation mechanism of the insulin receptor revealed by cryo-EM structure of the fully liganded receptor-ligand complex", eLife, 8,

Nielsen J et al. (2022) "Structural Investigations of Full-Length Insulin Receptor Dynamics and Signalling", Journal of molecular biology, 434, 167458

Chen YS et al. (2021) "Insertion of a synthetic switch into insulin provides metabolite-dependent regulation of hormone-receptor activation", Proceedings of the National Academy of Sciences of the United States of America, 118,

Autoinhibited structure

Activated structure

99 structures for P29317

Entry ID	Method	Resolution	Chain	Position	Source
1MQB	X-ray	230 A	A/B	596-900	PDB
2E8N	NMR	-	A	902-976	PDB
2K9Y	NMR	-	A/B	523-563	PDB
2KSO	NMR	-	A	908-972	PDB
2X10	X-ray	300 A	A	27-534	PDB
2X11	X-ray	483 A	A	27-534	PDB
3C8X	X-ray	195 A	A	23-202	PDB
3CZU	X-ray	265 A	A	23-202	PDB
3FL7	X-ray	250 A	A	23-531	PDB
3HEI	X-ray	200 A	A/C/E/G/I/K/M/O	28-201	PDB
3HPN	X-ray	252 A	A/B/C/D/E/F	28-201	PDB
3KKA	X-ray	240 A	C/D/E	903-971	PDB
3MBW	X-ray	281 A	A	23-326	PDB
3MX0	X-ray	351 A	A/C	27-435	PDB
3SKJ	X-ray	250 A	E/F	23-202	PDB
4P2K	X-ray	150 A	A	590-876	PDB
4PDO	X-ray	210 A	A/B	590-876	PDB
4TRL	X-ray	245 A	A	590-876	PDB
5EK7	X-ray	190 A	A/B	583-876	PDB
5I9U	X-ray	189 A	A	596-900	PDB
5I9V	X-ray	146 A	A	596-900	PDB
5I9W	X-ray	136 A	A	596-900	PDB
5I9X	X-ray	143 A	A	596-900	PDB
5I9Y	X-ray	123 A	A	596-900	PDB
5I9Z	X-ray	170 A	A	596-900	PDB
5IA0	X-ray	195 A	A/B/C	596-900	PDB
5IA1	X-ray	204 A	A	596-900	PDB
5IA2	X-ray	162 A	A	596-900	PDB
5IA3	X-ray	179 A	A	596-900	PDB
5IA4	X-ray	180 A	A	596-900	PDB
5IA5	X-ray	178 A	A	596-900	PDB
5NJZ	X-ray	177 A	A	596-900	PDB
5NK0	X-ray	160 A	A	596-900	PDB
5NK1	X-ray	155 A	A	596-900	PDB
5NK2	X-ray	165 A	A	596-900	PDB
5NK3	X-ray	159 A	A	596-900	PDB
5NK4	X-ray	145 A	A	596-900	PDB
5NK5	X-ray	133 A	A	596-900	PDB
5NK6	X-ray	127 A	A	596-900	PDB
5NK7	X-ray	189 A	A	596-900	PDB
5NK8	X-ray	176 A	A	596-900	PDB
5NK9	X-ray	159 A	A	596-900	PDB
5NKA	X-ray	138 A	A	596-900	PDB
5NKB	X-ray	150 A	A	596-900	PDB
5NKC	X-ray	145 A	A	596-900	PDB
5NKD	X-ray	141 A	A	596-900	PDB
5NKE	X-ray	139 A	A	596-900	PDB
5NKF	X-ray	110 A	A	596-900	PDB
5NKG	X-ray	110 A	A	596-900	PDB
5NKH	X-ray	129 A	A	596-900	PDB
5NKI	X-ray	168 A	A	596-900	PDB
5NZ9	NMR	-	A	945-969	PDB
6B9L	X-ray	320 A	A/B/C/D	27-200	PDB
6F7M	NMR	-	A	945-969	PDB
6F7N	NMR	-	A	951-963	PDB
6FNF	X-ray	156 A	A	596-900	PDB
6FNG	X-ray	104 A	A	596-900	PDB
6FNH	X-ray	138 A	A/B/C	596-900	PDB
6HES	X-ray	113 A	A	596-900	PDB
6HET	X-ray	121 A	A	596-900	PDB
6HEU	X-ray	172 A	A	596-900	PDB
6HEV	X-ray	128 A	A	596-900	PDB
6HEW	X-ray	127 A	A	596-900	PDB
6HEX	X-ray	141 A	A	596-900	PDB
6HEY	X-ray	137 A	A	596-900	PDB
6NJZ	X-ray	190 A	A/B	28-200	PDB
6NK0	X-ray	153 A	A/B	28-200	PDB
6NK1	X-ray	155 A	A/B	28-200	PDB
6NK2	X-ray	220 A	A/B	28-200	PDB
6NKP	X-ray	203 A	A/B	28-200	PDB
6Q7B	X-ray	101 A	A	596-900	PDB
6Q7C	X-ray	105 A	A	596-900	PDB
6Q7D	X-ray	098 A	A	596-900	PDB
6Q7E	X-ray	106 A	A	596-900	PDB
6Q7F	X-ray	120 A	A	596-900	PDB
6Q7G	X-ray	105 A	A	596-900	PDB
6RW2	X-ray	226 A	A	27-201	PDB
7B7N	X-ray	269 A	E	23-202	PDB
7CZE	X-ray	300 A	I/J/K/L	26-200	PDB
7CZF	X-ray	320 A	A/D	28-206	PDB
7KJA	X-ray	175 A	A/B	590-976	PDB
7KJB	X-ray	280 A	A	590-976	PDB
7KJC	X-ray	230 A	A/B	590-976	PDB
8BIN	X-ray	150 A	A	596-900	PDB
8BIO	X-ray	160 A	A	596-900	PDB
8BK0	X-ray	170 A	A	596-900	PDB
8BOC	X-ray	190 A	A	596-900	PDB
8BOD	X-ray	150 A	A	596-900	PDB
8BOF	X-ray	182 A	A	596-900	PDB
8BOG	X-ray	147 A	A	596-900	PDB
8BOH	X-ray	142 A	A	596-900	PDB
8BOI	X-ray	163 A	A	596-900	PDB
8BOK	X-ray	202 A	A	596-900	PDB
8BOM	X-ray	112 A	A	596-900	PDB
8QQY	X-ray	180 A	A	596-900	PDB
8TRS	X-ray	190 A	D	199-326	PDB
8TRT	X-ray	300 A	D/E	199-326	PDB
8XPV	X-ray	155 A	A	596-900	PDB
AF-P29317-F1	Predicted				AlphaFoldDB

853 variants for P29317

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1557520529 CA338645088 RCV000785112	26	G>V	Cataract 6 multiple types [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1253625963 RCV001098305 CA338643944	39	G>R	Cataract 6 multiple types [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
rs147977279 RCV000544272 CA625598	41	L>V	Cataract 6 multiple types [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000320641 CA10608211 rs886045506	42	G>S	Cataract 6 multiple types [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA18343279 rs994302854 RCV000791152	69	V>M	Cataract 6 multiple types [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
CA18343226 RCV000778193 rs143590250	88	R>*	Cataract 6 multiple types [ClinVar]	Yes	ClinGen ClinVar ESP dbSNP
rs754447639 CA625523 RCV000519074 RCV001858036	148	D>N	Cataract 6 multiple types [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001575976 RCV000864302 COSM1192238 rs150790360 CA625507	165	V>M	Cataract 6 multiple types breast [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA625495 RCV000269151 rs147352564 RCV002522067	175	R>C	Cataract 6 multiple types Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA625494 rs759687964 RCV001096568	175	R>H	Cataract 6 multiple types Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs368758045 RCV000272752 CA625480	195	R>C	Cataract 6 multiple types [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs200541087 RCV001096567 CA625475	200	K>N	Cataract 6 multiple types [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
CA625462 RCV000871695 rs114498261	232	D>G	Cataract 6 multiple types [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1569602837 CA338640006 RCV000824104	253	W>*	Cataract 6 multiple types [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs35484156 RCV000405272 CA625400 RCV000871683 COSM1666256	277	S>L	eye Cataract 6 multiple types [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA625388 RCV001066684 rs754323552	297	T>M	Cataract 6 multiple types [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000873178 rs139176878 CA625374	315	R>Q	Cataract 6 multiple types [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001101977 CA625373 rs372094298	321	A>V	Cataract 6 multiple types [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA625337 rs761928478 RCV000705461	347	R>H	Cataract 6 multiple types [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001099980 CA625335 RCV002249687 rs200490325	349	T>M	Cataract 6 multiple types [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV000340843 rs11543934 CA625332	350	P>T	Cataract 6 multiple types [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA338633991 rs1248366791 RCV001223039	356	G>D	Cataract 6 multiple types [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000644435 rs201941686 CA625324	358	E>K	Cataract 6 multiple types [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000538935 CA625309 rs758978165	373	S>F	Cataract 6 multiple types [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV001711816 CA16602603 RCV000426150 CA625293 VAR_042121 RCV000443145 RCV000531723 rs34192549 RCV000244271	391	G>R	Cataract 6 multiple types Squamous cell lung carcinoma [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD UniProt
rs1181387702 RCV000644434 CA338632756	404	P>A	Cataract 6 multiple types [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
rs568736295 RCV000270678 CA625269	418	V>I	Cataract 6 multiple types Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs138475231 RCV001227746 CA625259	428	R>H	Cataract 6 multiple types [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs993473436 CA18331154 RCV001098207	455	S>F	Cataract 6 multiple types Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar Ensembl NCI-TCGA dbSNP
CA18331095 RCV001098206 rs988452109	474	R>H	Cataract 6 multiple types [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
RCV000871108 RCV002064663 rs115171763 CA625159	496	D>N	Cataract 6 multiple types [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA625151 COSM239718 VAR_042122 rs55747232 RCV002225577 RCV000644437	511	T>M	Cataract 6 multiple types prostate [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV001096461 rs1380993138	528	S>C	Cataract 6 multiple types [ClinVar]	Yes	ClinVar dbSNP
CA625115 rs548968171 RCV001096460	529	P>L	Cataract 6 multiple types [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA625107 RCV001575119 RCV000545114 rs61731097	541	V>M	Cataract 6 multiple types [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001101895 rs750878968 CA625083	566	R>H	Cataract 6 multiple types [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs376402047 CA625081 RCV000348258	571	P>L	Cataract 6 multiple types [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000309694 RCV001770232 rs201325716 CA625079	574	V>I	Cataract 6 multiple types [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs753345828 CA625041 RCV001101893	605	T>I	Cataract 6 multiple types [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs373953344 CA10608023 RCV000403532	615	R>W	Cataract 6 multiple types [ClinVar]	Yes	ClinGen ClinVar ESP TOPMed dbSNP gnomAD
CA625004 RCV000828286 VAR_055990 RCV001087997 rs34021505	631	M>T	Cataract 6 multiple types [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs864309699 RCV000203400 CA278845	660	F>V	Developmental cataract [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV000279994 rs144342633 CA624984	662	G>S	Cataract 6 multiple types [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA624977 rs765261745 RCV000815249	677	R>C	Cataract 6 multiple types [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs145962326 CA624976 RCV001099892	677	R>H	Cataract 6 multiple types [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs116506614 RCV002247334 CA122982 RCV000442224 RCV000014172 VAR_062532 RCV000368763	721	R>Q	Cataract 6 multiple types Cortical senile cataract Cataract 6, age-related cortical CTRCT6; retained in the cytoplasm and constitutively active it alters EPHA2 signaling [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001340743 rs2024583180	725	A>G	Cataract 6 multiple types [ClinVar]	Yes	ClinVar dbSNP
rs145592908 RCV000522512 CA624886 RCV001078988	747	V>I	Cataract 6 multiple types [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA624775 rs35903225 RCV000535393 RCV000254530 VAR_042125 RCV001636780	876	R>H	Cataract 6 multiple types [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001096363 CA624754 rs139168333	891	V>M	Cataract 6 multiple types [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs903033191 RCV000802686 CA18325625 COSM74527	912	W>C	ovary Cataract 6 multiple types [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar TOPMed dbSNP
CA122981 RCV000014169 rs137853200 VAR_058907	940	T>I	Cataract 6 multiple types CTRCT6; reduced protein stability and reduced ability to stimulate cell migration in absence of its ephrin ligand [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
CA122980 rs137853199 RCV000014168 VAR_058908	948	G>W	Cataract 6 multiple types CTRCT6; reduced protein stability and reduced ability to stimulate cell migration in absence of its ephrin ligand [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
rs139787163 CA624672 RCV000405208	959	A>T	Cataract 6 multiple types [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000547983 RCV001590912 CA624668 RCV000504072 rs138818894	968	Q>H	Cataract 6 multiple types [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001053980 rs2024441691	972	V>missing	Cataract 6 multiple types [ClinVar]	Yes	ClinVar dbSNP
CA625621 rs775940389	2	E>Q		No	ClinGen ExAC gnomAD
rs765831473 CA625620	3	L>F		No	ClinGen ExAC TOPMed gnomAD
rs1569629785 CA338645500	6	A>D		No	ClinGen Ensembl
rs989492388 CA18350771	7	R>L		No	ClinGen TOPMed
CA338645475 rs1352624838	8	A>T		No	ClinGen gnomAD
rs948849287 CA18350767	9	C>R		No	ClinGen Ensembl
CA338645350 rs1409524840	13	L>M		No	ClinGen gnomAD
CA625618 rs772822763	15	G>C		No	ClinGen ExAC TOPMed gnomAD
rs1404150651 CA338645281	16	C>S		No	ClinGen gnomAD
rs1028392500 CA18350766	17	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1028392500 CA338645250	17	A>T		No	ClinGen TOPMed gnomAD
CA338645219 rs1253449807	18	L>P		No	ClinGen gnomAD
CA338645206 rs1208200708	19	A>G		No	ClinGen gnomAD
CA338645179 rs1179569761	20	A>S		No	ClinGen TOPMed gnomAD
rs1179569761 CA338645189	20	A>T		No	ClinGen TOPMed gnomAD
CA338645169 rs1320749225	21	A>T		No	ClinGen TOPMed
CA338645166 rs1269360439	21	A>V		No	ClinGen TOPMed gnomAD
rs771745114 CA625617	25	Q>*		No	ClinGen ExAC gnomAD
CA338645086 rs1361524505	27	K>E		No	ClinGen TOPMed
CA625605 rs758708996	29	V>G		No	ClinGen ExAC gnomAD
CA338644053 rs1424232177	32	L>V		No	ClinGen gnomAD
rs763497734 CA338643996	35	A>P		No	ClinGen ExAC gnomAD
CA625602 rs763497734	35	A>S		No	ClinGen ExAC gnomAD
CA625601 rs777236486	36	A>T		No	ClinGen ExAC gnomAD
CA625600 rs767014539	36	A>V		No	ClinGen ExAC gnomAD
rs1041090816 CA18344612	37	A>T		No	ClinGen Ensembl
CA338643956 rs1257908263	38	G>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA338643912 rs1557516913	40	E>V		No	ClinGen Ensembl
CA625597 rs773916211	41	L>P		No	ClinGen ExAC gnomAD
TCGA novel	43	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1231216050 CA338643858	44	L>P		No	ClinGen gnomAD
rs1569611595 CA338643861	44	L>V		No	ClinGen Ensembl
CA338643855 rs1569611563	45	T>P		No	ClinGen Ensembl
CA625594 rs775244495	47	P>L		No	ClinGen ExAC TOPMed gnomAD
rs745697535 CA625592 COSM88054	49	G>D	central_nervous_system [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs781061644 CA625591	50	K>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA18343315 rs917249947	52	W>*		No	ClinGen gnomAD
rs1491004267 CA338643211	52	W>R		No	ClinGen gnomAD
CA625569 rs779660280	53	D>N		No	ClinGen ExAC TOPMed gnomAD
CA338643184 rs1320592664	54	L>V		No	ClinGen gnomAD
rs1288542834 COSM1251273 CA338643153	56	Q>*	oesophagus [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1557515842 CA338643131	57	N>S		No	ClinGen Ensembl
CA625568 rs142886066	59	M>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA18343307 rs891220899	59	M>T		No	ClinGen TOPMed gnomAD
COSM1205442 CA338643038 rs1387273351	63	P>L	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
rs373938231 CA625565	66	M>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA338642985 rs1384432469	67	Y>C		No	ClinGen gnomAD
rs756546009 CA338642936	71	N>K		No	ClinGen ExAC TOPMed gnomAD
rs370014325 CA18343276	72	V>M		No	ClinGen ESP TOPMed gnomAD
CA625561 rs767929898	73	M>I		No	ClinGen ExAC gnomAD
CA625562 rs750986678	73	M>V		No	ClinGen ExAC TOPMed gnomAD
CA338642885 rs1265800351	76	D>N		No	ClinGen gnomAD
rs1209800199 CA338642816	81	L>V		No	ClinGen TOPMed gnomAD
CA625559 rs190330372	82	R>C		No	ClinGen 1000Genomes ExAC gnomAD
rs764807859 CA625558	82	R>H		No	ClinGen ExAC gnomAD
CA18343251 rs190330372	82	R>S		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	84	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA18343232 rs1038498668	84	N>T		No	ClinGen TOPMed
rs776382947 CA625556	85	W>*		No	ClinGen ExAC gnomAD
CA625555 rs770812294	86	V>A		No	ClinGen ExAC TOPMed gnomAD
rs1299045926 CA338642731	88	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1389432196 CA338642700	92	E>G		No	ClinGen gnomAD
rs200152244 CA625554	93	R>C		No	ClinGen ExAC TOPMed gnomAD
CA625553 rs773163502	93	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs773163502 CA338642693	93	R>L		No	ClinGen ExAC TOPMed gnomAD
rs773163502 CA338642694	93	R>P		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	94	I>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA18343197 rs1058370	94	I>N		No	ClinGen Ensembl
CA338642691 rs1388112980	94	I>V		No	ClinGen gnomAD
rs1058371 CA18343189	96	I>F		No	ClinGen gnomAD
CA338642677 rs1058371	96	I>V		No	ClinGen gnomAD
CA338642662 rs1365808858	98	L>F		No	ClinGen TOPMed
CA338642657 rs1467862858	99	K>E		No	ClinGen gnomAD
VAR_055989 rs1058372 CA338642652 CA18343178	99	K>N		No	ClinGen UniProt ExAC TOPMed dbSNP gnomAD
rs371414588 CA625551	101	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs371414588 CA338642640	101	T>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs745478922 CA18343167	102	V>A		No	ClinGen TOPMed gnomAD
rs768995359 CA625549 COSM1743260	103	R>C	biliary_tract [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs768995359 CA338642632	103	R>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA625548 rs749562190	103	R>H		No	ClinGen ExAC TOPMed gnomAD
CA625547 rs780259019	106	N>S		No	ClinGen ExAC TOPMed gnomAD
rs149867517 CA18343149	108	F>L		No	ClinGen 1000Genomes
CA338642586 rs1200699823	109	P>L		No	ClinGen gnomAD
CA338642591 rs1162979573	109	P>T		No	ClinGen TOPMed
CA338642571 rs781673577	112	A>D		No	ClinGen ExAC gnomAD
CA338642572 rs538382189	112	A>S		No	ClinGen ExAC TOPMed gnomAD
COSM898865 CA625545 rs538382189	112	A>T	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA625544 rs781673577	112	A>V		No	ClinGen ExAC gnomAD
rs757771976 CA625543	113	S>T		No	ClinGen ExAC gnomAD
CA625542 rs368902486	116	K>R		No	ClinGen ESP ExAC gnomAD
rs754607309 CA338642484	122	Y>*		No	ClinGen ExAC gnomAD
rs764772122 CA625541	122	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA338642453 rs1289019071	125	E>D		No	ClinGen TOPMed
rs975015748 CA18343101	125	E>G		No	ClinGen Ensembl
CA625538 rs765981383	125	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA625537 rs760453914	126	S>L		No	ClinGen ExAC TOPMed gnomAD
rs767477209 CA625535	127	D>H		No	ClinGen ExAC gnomAD
CA18343091 rs963694536	128	L>P		No	ClinGen Ensembl
CA18343084 rs1032703470	130	Y>F		No	ClinGen Ensembl
rs925816706 CA18343079	131	G>D		No	ClinGen TOPMed
CA625533 rs774540853	131	G>S		No	ClinGen ExAC gnomAD
CA338642331 COSM1251272 rs1325664643	137	R>C	oesophagus [Cosmic]	No	ClinGen cosmic curated TOPMed
rs775739772 CA625530	137	R>H		No	ClinGen ExAC TOPMed gnomAD
rs781464115 CA625528	141	K>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA338642277 rs1342620343	142	I>T		No	ClinGen gnomAD
CA625526 rs757753525	143	D>A		No	ClinGen ExAC gnomAD
rs1569605042 CA338642261	144	T>P		No	ClinGen Ensembl
TCGA novel	145	I>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA338642235 rs1226114277	146	A>V		No	ClinGen gnomAD
rs1569604910 CA338642187	151	T>P		No	ClinGen Ensembl
rs766000471 CA625521	152	V>I		No	ClinGen ExAC TOPMed gnomAD
CA625520 rs755782188	153	S>N		No	ClinGen ExAC gnomAD
rs1306694536 CA338642157	154	S>C		No	ClinGen gnomAD
CA338642152 rs1429716017	154	S>N		No	ClinGen gnomAD
CA338642144 rs767460372	155	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA625518 rs767460372	155	D>Y		No	ClinGen ExAC gnomAD
rs774381220 CA625516	156	F>L		No	ClinGen ExAC TOPMed gnomAD
CA625515 rs764156192	157	E>K		No	ClinGen ExAC gnomAD
CA625514 rs763058213	159	R>C		No	ClinGen ExAC TOPMed gnomAD
CA625513 rs113882203	159	R>H		No	ClinGen ExAC TOPMed gnomAD
rs777036630 CA625510	161	V>L		No	ClinGen ExAC gnomAD
rs777036630 CA625511	161	V>M		No	ClinGen ExAC gnomAD
rs201078677 CA625506	168	R>C		No	ClinGen 1000Genomes ExAC gnomAD
CA18342961 rs756877965	168	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs748819792 CA625505	169	S>F		No	ClinGen ExAC gnomAD
CA338641969 rs1343332503	169	S>P		No	ClinGen TOPMed
rs750091839 CA625503	170	V>L		No	ClinGen ExAC gnomAD
rs750091839 CA625502	170	V>M		No	ClinGen ExAC gnomAD
CA625501 rs751025996	172	P>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	172	P>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs368346211 CA625499	173	L>F		No	ClinGen ESP ExAC gnomAD
rs1569604409 CA338641903	174	T>P		No	ClinGen Ensembl
CA338641885 rs759687964	175	R>L		No	ClinGen ExAC TOPMed gnomAD
rs776797736 CA625491	178	F>L		No	ClinGen ExAC gnomAD
TCGA novel	179	Y>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA338641826 rs1174748458	181	A>T		No	ClinGen TOPMed
rs1468571750 CA338641820	181	A>V		No	ClinGen TOPMed
CA338641818 rs1165695497	182	F>L		No	ClinGen gnomAD
rs760974630 CA625489	186	G>S		No	ClinGen ExAC gnomAD
CA625488 rs773626522	189	V>A		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	189	V>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs772564338 CA625487	190	A>V		No	ClinGen ExAC gnomAD
CA338641662 rs780924846	194	V>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs780924846 CA625482	194	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA625479 rs777774171	195	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA338641635 rs777774171	195	R>L		No	ClinGen ExAC TOPMed gnomAD
CA18342839 rs895667709	196	V>A		No	ClinGen Ensembl
rs375469676 CA625478	196	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA18342835 rs935762807	197	Y>C		No	ClinGen TOPMed gnomAD
CA338641575 rs1341071886	199	K>N		No	ClinGen TOPMed
rs752532312 CA625477	199	K>R		No	ClinGen ExAC TOPMed gnomAD
CA625476 rs765255059	200	K>T		No	ClinGen ExAC gnomAD
TCGA novel	201	C>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA338641552 rs1425635877	201	C>Y		No	ClinGen gnomAD
CA338641526 rs1477038802	203	E>K		No	ClinGen gnomAD
CA338641527 rs1477038802	203	E>Q		No	ClinGen gnomAD
CA338641505 rs1466315681	205	L>P		No	ClinGen gnomAD
rs1215365718 CA338641488	207	G>S		No	ClinGen gnomAD
rs760956040 CA625472	208	L>R		No	ClinGen ExAC gnomAD
CA338641451 rs1569603654	210	H>P		No	ClinGen Ensembl
rs199596930 CA18342784	210	H>Y		No	ClinGen TOPMed
CA338641391 rs1299005737	214	T>A		No	ClinGen gnomAD
rs1457491348 CA338641387	214	T>N		No	ClinGen TOPMed
CA338641392 rs1299005737	214	T>P		No	ClinGen gnomAD
CA338641382 rs1409696077	215	I>V		No	ClinGen TOPMed
rs143736427 CA625467	216	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA338641341 rs1359522806	217	G>D		No	ClinGen gnomAD
rs200422898 CA625465	217	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA625464 rs780904546	220	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1394333794 CA338641294	221	P>L		No	ClinGen gnomAD
TCGA novel	223	L>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA18342725 rs375273120	226	V>A		No	ClinGen ESP TOPMed gnomAD
TCGA novel	228	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA338641243 rs1223374611	228	G>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs200823845 CA625461	233	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs758092063 CA625460	234	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed
CA625458 rs370497466	235	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs753911203 CA338641147 CA625457	236	V>L		No	ClinGen ExAC TOPMed gnomAD
rs753911203 CA625456	236	V>M		No	ClinGen ExAC TOPMed gnomAD
rs558371652 CA18342655	238	P>A		No	ClinGen TOPMed gnomAD
rs750596455 CA338641116	238	P>L		No	ClinGen ExAC TOPMed gnomAD
CA625453 rs750596455	238	P>R		No	ClinGen ExAC TOPMed gnomAD
rs1384528367 CA338641107	239	G>A		No	ClinGen TOPMed
rs762021717 CA18342620	240	G>A		No	ClinGen TOPMed gnomAD
CA338641099 rs762021717	240	G>D		No	ClinGen TOPMed gnomAD
TCGA novel	240	G>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1412658647	241	E>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs1308543248 CA338640392	241	E>A		No	ClinGen TOPMed gnomAD
rs1374652292 CA338640401	241	E>K		No	ClinGen gnomAD
rs568771755 CA625448	242	E>G		No	ClinGen ExAC TOPMed gnomAD
rs764494279 CA625449 COSM458455	242	E>K	cervix Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA625447 rs568771755	242	E>V		No	ClinGen ExAC TOPMed gnomAD
rs1424485459 CA338640291	243	P>L		No	ClinGen gnomAD
rs925529282 CA18342609	244	R>C		No	ClinGen gnomAD
rs770610646 CA625446	244	R>H		No	ClinGen ExAC TOPMed gnomAD
rs373271815 CA625445	245	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA625443 rs771772851	247	C>Y		No	ClinGen ExAC gnomAD
CA625441 rs371097258	250	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA18342591 rs779038614	251	G>S		No	ClinGen gnomAD
rs1557514991 CA338640018	252	E>D		No	ClinGen Ensembl
rs749273208 CA625439	252	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs779989999 CA625438	254	L>Q		No	ClinGen ExAC
rs756145776 CA625436	255	V>G		No	ClinGen ExAC gnomAD
CA625433 rs767575728	256	P>A		No	ClinGen ExAC TOPMed gnomAD
CA625431 rs751863741	256	P>H		No	ClinGen ExAC
CA625432 rs751863741	256	P>L		No	ClinGen ExAC
CA625434 rs767575728	256	P>S		No	ClinGen ExAC TOPMed gnomAD
rs776088231 CA625428	257	I>L		No	ClinGen ExAC gnomAD
rs1394171952 CA338639905	257	I>N		No	ClinGen TOPMed gnomAD
rs1394171952 CA338639902	257	I>T		No	ClinGen TOPMed gnomAD
rs760209144 CA625426	258	G>V		No	ClinGen ExAC
CA625427 rs765847888	258	G>W		No	ClinGen ExAC
CA625425 rs772839423	259	Q>E		No	ClinGen ExAC
CA625424 rs771621467	259	Q>P		No	ClinGen ExAC
CA18342528 rs771621467	259	Q>R		No	ClinGen ExAC
CA338639770 rs1458436725	260	C>F		No	ClinGen gnomAD
CA625421 rs773997358	265	G>S		No	ClinGen ExAC gnomAD
CA18342492 rs372873218	269	V>L		No	ClinGen ESP TOPMed gnomAD
CA18342481 rs967458662	270	E>K		No	ClinGen Ensembl
CA338639560 rs1184715820	271	D>N		No	ClinGen gnomAD
CA338639518 rs1250387039	272	A>V		No	ClinGen gnomAD
rs779899828 CA625418	273	C>F		No	ClinGen ExAC gnomAD
TCGA novel	274	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1488511107 CA338639493	274	Q>R		No	ClinGen gnomAD
CA625417 rs185808210	275	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA625401 rs768300469	277	S>P		No	ClinGen ExAC gnomAD
CA18334724 rs912662109	278	P>R		No	ClinGen Ensembl
CA625397 rs745854304	279	G>*		No	ClinGen ExAC gnomAD
rs745854304 CA338636486	279	G>R		No	ClinGen ExAC gnomAD
CA625396 rs781107512	279	G>V		No	ClinGen ExAC gnomAD
rs770990201 CA625395	281	F>L		No	ClinGen ExAC gnomAD
CA625394 rs747087417	282	K>E		No	ClinGen ExAC TOPMed gnomAD
rs1453213313 CA338636340	285	A>T		No	ClinGen gnomAD
CA338636307 rs1194835828	286	S>F		No	ClinGen gnomAD
CA625391 rs201837559	287	E>K		No	ClinGen ExAC TOPMed gnomAD
CA18334671 rs932808821	288	S>N		No	ClinGen Ensembl
CA338636162 rs1311572562	290	C>W		No	ClinGen TOPMed
rs779462819 CA625390	292	E>A		No	ClinGen ExAC gnomAD
rs755520432 CA625389	293	C>S		No	ClinGen ExAC gnomAD
rs1233540337 CA338636046	294	P>S		No	ClinGen gnomAD
CA338636014 rs1342926103	296	H>Y		No	ClinGen gnomAD
CA338635960 rs761320754	298	L>V		No	ClinGen ExAC TOPMed gnomAD
CA338635875 rs1380907401	300	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA338635829 rs1179970351	301	P>L		No	ClinGen TOPMed
CA338635760 rs1290803425	303	G>D		No	ClinGen TOPMed gnomAD
rs1290803425 CA338635755	303	G>V		No	ClinGen TOPMed gnomAD
rs751043524 CA625385	304	A>T		No	ClinGen ExAC gnomAD
CA625379 rs759269511	308	E>D		No	ClinGen ExAC gnomAD
CA625380 rs769622494 COSM3385376	308	E>K	pancreas [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA625378 rs201934420	309	C>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	309	C>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA625377 rs770789618	310	E>D		No	ClinGen ExAC
CA625376 rs747103339	312	G>A		No	ClinGen ExAC gnomAD
CA338635543 rs747103339	312	G>D		No	ClinGen ExAC gnomAD
TCGA novel	313	F>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA625375 rs773494301	315	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1025161177 CA18334510	316	A>V		No	ClinGen TOPMed gnomAD
CA338635448 rs1313657748	317	P>L		No	ClinGen TOPMed
TCGA novel	319	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1387958675 CA338635371	320	P>L		No	ClinGen gnomAD
CA338635365 rs1569577192	321	A>P		No	ClinGen Ensembl
rs1338865281 CA338635326	322	S>L		No	ClinGen gnomAD
TCGA novel	322	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA625371 rs755331712	325	C>Y		No	ClinGen ExAC
CA625370 rs749619914	326	T>A		No	ClinGen ExAC TOPMed gnomAD
CA625369 rs780551831	327	R>*		No	ClinGen ExAC gnomAD
rs1391739346 CA338634568	328	P>L		No	ClinGen gnomAD
rs890846452 CA18332959	328	P>S		No	ClinGen TOPMed gnomAD
rs890846452 CA338634571	328	P>T		No	ClinGen TOPMed gnomAD
CA338634564 rs1457533515	329	P>T		No	ClinGen gnomAD
rs1557508854 CA338634544	330	S>C		No	ClinGen Ensembl
rs781025871	330	S>P	Variant assessed as Somatic; 0.0001072 impact. [NCI-TCGA]	No	NCI-TCGA
CA625348 rs746422722	331	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs757859957 CA625346 RCV000376767	333	H>R		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA338634492 rs1569576725	334	Y>S		No	ClinGen Ensembl
CA625345 rs146085387	336	T>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA18332892 rs1035095394	337	A>D		No	ClinGen Ensembl
rs1295491063 CA338634453	337	A>T		No	ClinGen TOPMed gnomAD
CA338634410 rs1346253894	338	V>G		No	ClinGen gnomAD
rs754656950 CA625343 COSM3802683	338	V>M	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1306271294 CA338634402	339	G>C		No	ClinGen gnomAD
rs1478331121 CA338634396	339	G>D		No	ClinGen TOPMed
CA338634392 rs1478331121	339	G>V		No	ClinGen TOPMed
rs1442412216 CA338634381	340	M>I		No	ClinGen gnomAD
rs1403558567 CA338634387	340	M>V		No	ClinGen gnomAD
TCGA novel	343	K>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA625342 rs201230989	344	V>M		No	ClinGen ExAC TOPMed gnomAD
CA338634301 rs1446919506	345	E>D		No	ClinGen TOPMed
CA625341 rs575151468	345	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs760570674 CA625340	346	L>P		No	ClinGen ExAC gnomAD
CA625338 rs767568653	347	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs921335989 CA18332862	348	W>C		No	ClinGen Ensembl
rs774630356 CA625336	349	T>A		No	ClinGen ExAC gnomAD
rs11543934 CA338634238	350	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA338634210 rs1240588907	352	Q>*		No	ClinGen gnomAD
rs1443381273 CA338634077	354	S>N		No	ClinGen gnomAD
rs1345084205 CA338634049	355	G>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA625329 rs370923409	355	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA18332785 rs924901221	357	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA625326 rs754639981	357	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs924901221 CA18332789	357	R>S		No	ClinGen TOPMed
rs368150751 CA625323	359	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA338633880 rs750258585	360	I>F		No	ClinGen ExAC gnomAD
CA625322 rs750258585	360	I>V		No	ClinGen ExAC gnomAD
TCGA novel	364	V>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs150248625 CA625320	364	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1032463577 CA18332765	365	T>I		No	ClinGen TOPMed gnomAD
CA625319 rs751625812	366	C>G		No	ClinGen ExAC gnomAD
rs763114831 CA625317	367	E>K		No	ClinGen ExAC TOPMed gnomAD
CA18332761 rs959141703	368	Q>E		No	ClinGen Ensembl
CA625316 rs775531795	368	Q>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	369	C>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs780504557 CA18332743	370	W>C		No	ClinGen Ensembl
rs759834093 CA625314	370	W>R		No	ClinGen ExAC gnomAD
rs777035324 CA625313	371	P>H		No	ClinGen ExAC gnomAD
rs778369677 CA625311	372	E>K		No	ClinGen ExAC TOPMed gnomAD
CA625310 rs778369677	372	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs1355847759 CA338633522	375	E>Q		No	ClinGen gnomAD
rs779516824 CA18332722	376	C>*		No	ClinGen ExAC TOPMed gnomAD
CA338633484 rs1412712186	376	C>F		No	ClinGen gnomAD
CA625308 rs748836138	376	C>R		No	ClinGen ExAC gnomAD
CA338633464 rs1412712186	376	C>Y		No	ClinGen gnomAD
rs373447361 CA625306	377	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA625305 rs201266141	378	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA338633396 rs1169977476	379	C>R		No	ClinGen gnomAD
rs757237384 CA625303	380	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA338633278 rs1338558737	382	S>I		No	ClinGen TOPMed
TCGA novel	382	S>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA338633276 CA338633275 rs1186185948	382	S>R		No	ClinGen gnomAD
CA625302 rs751403034	383	V>A		No	ClinGen ExAC TOPMed gnomAD
rs751403034 CA338633250	383	V>G		No	ClinGen ExAC TOPMed gnomAD
rs112196300 CA625300	384	R>C		No	ClinGen ExAC TOPMed gnomAD
rs112196300 CA18332711	384	R>G		No	ClinGen ExAC TOPMed gnomAD
rs745610834 CA625299	384	R>H		No	ClinGen ExAC TOPMed gnomAD
rs112196300 CA625301	384	R>S		No	ClinGen ExAC TOPMed gnomAD
rs1394781268 CA338633198	386	S>A		No	ClinGen gnomAD
CA625298 rs141027815	386	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA625296 rs776961537	387	E>A		No	ClinGen ExAC gnomAD
rs1309020202 CA338633147	388	P>A		No	ClinGen TOPMed gnomAD
rs1274664082 CA338633070	389	P>L		No	ClinGen gnomAD
CA625295 rs142009739	389	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA338633023 rs1307586091	391	G>V		No	ClinGen gnomAD
rs754184131 CA18332676	393	T>N		No	ClinGen Ensembl
CA625290 rs775134362	394	R>C		No	ClinGen ExAC TOPMed gnomAD
rs769539005 CA625289	394	R>H		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	395	T>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA625287 rs781013206	395	T>I		No	ClinGen ExAC gnomAD
rs373273453 CA625286	398	T>S		No	ClinGen ESP ExAC gnomAD
CA625283 rs758416217	401	D>N		No	ClinGen ExAC TOPMed gnomAD
CA625284 rs758416217	401	D>Y		No	ClinGen ExAC TOPMed gnomAD
COSM424448 CA625282 rs752712276	403	E>K	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA338632753 rs1181387702	404	P>S		No	ClinGen TOPMed
rs765354147 CA625281	405	H>Y		No	ClinGen ExAC gnomAD
rs570874803 CA18332627	406	M>I		No	ClinGen gnomAD
CA625278 rs766593100	406	M>T		No	ClinGen ExAC gnomAD
CA625279 rs754022603	406	M>V		No	ClinGen ExAC TOPMed gnomAD
rs760891373 CA625277	407	N>T		No	ClinGen ExAC gnomAD
rs773685338 CA625276	409	T>A		No	ClinGen ExAC gnomAD
CA625274 rs762421550	412	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA625272 rs150826389	415	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA338632438 rs1452087067	415	R>H		No	ClinGen TOPMed gnomAD
CA338632440 rs1452087067	415	R>L		No	ClinGen TOPMed gnomAD
TCGA novel	418	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA625268 rs746764558	422	V>L		No	ClinGen ExAC gnomAD
TCGA novel	423	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs777687976 CA625267	423	T>P		No	ClinGen ExAC gnomAD
rs758249318 CA625266	424	S>N		No	ClinGen ExAC TOPMed gnomAD
rs758249318 CA338632201	424	S>T		No	ClinGen ExAC TOPMed gnomAD
rs369605778 CA625264	425	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs369605778 CA625265	425	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA625263 rs754988701	425	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA338632164 COSM530217 rs754988701	425	R>L	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA338632125 rs1557508229	427	F>L		No	ClinGen Ensembl
rs148381862 CA625262	428	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs138475231 CA625260	428	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs138475231 CA625261	428	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA625256 rs752071914	430	A>V		No	ClinGen ExAC gnomAD
CA625255 rs764701970	433	S>G		No	ClinGen ExAC TOPMed gnomAD
rs1405892230 CA338631912	436	Q>R		No	ClinGen TOPMed
rs376978557 CA625254	437	T>S		No	ClinGen ESP ExAC
CA18331224 rs946986272	439	P>S		No	ClinGen Ensembl
CA625235 rs753365264	440	P>L		No	ClinGen ExAC TOPMed gnomAD
rs760138007 CA625232	441	K>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	441	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA625233 rs760138007	441	K>T		No	ClinGen ExAC TOPMed gnomAD
CA625231 rs772857919	442	V>L		No	ClinGen ExAC gnomAD
rs144075562 CA18331190	445	E>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs144075562 CA625229	445	E>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA625227 rs768552046	447	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA625226 rs144716232	447	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA625225 rs779876865 COSM244275	448	S>N	prostate [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA18331175 rs747244931	450	T>P		No	ClinGen gnomAD
CA625223 rs745939420	451	S>L		No	ClinGen ExAC TOPMed gnomAD
rs757607113 CA338630194	452	L>F		No	ClinGen ExAC gnomAD
CA625221 rs757607113	452	L>I		No	ClinGen ExAC gnomAD
CA625219 rs778319091	454	V>I		No	ClinGen ExAC gnomAD
CA625217 rs753218518	457	S>G		No	ClinGen ExAC TOPMed gnomAD
rs1234546853 CA338630110	457	S>N		No	ClinGen gnomAD
rs765669395 CA625216	458	I>T		No	ClinGen ExAC gnomAD
CA625214 rs749959551	460	P>L		No	ClinGen ExAC TOPMed gnomAD
CA338630038 rs749959551	460	P>Q		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	461	P>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA338630006 rs761494023	461	P>L		No	ClinGen ExAC TOPMed gnomAD
CA625212 rs761494023	461	P>Q		No	ClinGen ExAC TOPMed gnomAD
CA338629960 rs1232457745	463	Q>H		No	ClinGen TOPMed
rs1289700800 CA338629892	465	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs755419836 CA625210	465	R>Q		No	ClinGen ExAC gnomAD
rs775431065 CA625208	467	W>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	468	K>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1237262230 CA338629817	468	K>E		No	ClinGen gnomAD
rs745943908 CA625206	470	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs952867403 CA18331106	472	T>A		No	ClinGen TOPMed
CA18331102 rs914139663	474	R>C		No	ClinGen TOPMed gnomAD
rs914139663 CA338629647	474	R>G		No	ClinGen TOPMed gnomAD
CA338629584 rs1370561947	475	K>R		No	ClinGen TOPMed
rs1295018439 CA338629383	478	D>N		No	ClinGen gnomAD
rs756687171 CA625174	481	S>G		No	ClinGen ExAC gnomAD
CA625173 rs554019648	481	S>T		No	ClinGen 1000Genomes ExAC gnomAD
rs1256452898 CA338629240	483	N>K		No	ClinGen TOPMed
CA338629245 rs1444464746	483	N>S		No	ClinGen gnomAD
CA625171 rs370741075 COSM181791	485	R>C	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs765078166 CA18330772	485	R>H		No	ClinGen ExAC TOPMed gnomAD
rs765078166 CA625170	485	R>L		No	ClinGen ExAC TOPMed gnomAD
CA625169 rs143490496	486	R>C		No	ClinGen ESP ExAC gnomAD
CA338629180 rs1229539733	486	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA338629170 rs199586891	487	T>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
rs199586891 CA625168	487	T>P		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	488	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA625165 rs760824597	488	E>G		No	ClinGen ExAC gnomAD
CA625166 rs145459140	488	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA625164 rs140392218	489	G>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA625162 rs141123184	492	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1230360816 CA338629061	493	T>A		No	ClinGen gnomAD
CA338629056 rs1468746593	493	T>N		No	ClinGen TOPMed gnomAD
CA338629017 rs1569570677	495	D>G		No	ClinGen Ensembl
rs115171763 CA338629005	496	D>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA625158 rs780478764	499	P>S		No	ClinGen ExAC TOPMed gnomAD
rs770339373 CA625157	500	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1442464363 CA338628907	502	T>A		No	ClinGen TOPMed
rs777305013 CA625155	503	Y>C		No	ClinGen ExAC gnomAD
rs1045391499 CA18330701	504	L>V		No	ClinGen TOPMed
rs1449188642 CA338628743	508	Q>E		No	ClinGen TOPMed
CA338628700 rs778657565	509	A>P		No	ClinGen ExAC TOPMed gnomAD
CA625152 rs778657565	509	A>T		No	ClinGen ExAC TOPMed gnomAD
CA18330684 rs1022316708	511	T>A		No	ClinGen TOPMed
rs766415777 CA625149	512	Q>*		No	ClinGen ExAC gnomAD
rs766415777 CA338628635	512	Q>E		No	ClinGen ExAC gnomAD
rs760734563 CA625148	512	Q>R		No	ClinGen ExAC gnomAD
CA338628599 rs1399641731	514	G>C		No	ClinGen TOPMed gnomAD
CA338628597 rs1557505688	514	G>D		No	ClinGen Ensembl
CA338628608 rs1399641731	514	G>S		No	ClinGen TOPMed gnomAD
rs1557505683 CA338628582	515	Q>*		No	ClinGen Ensembl
CA625146 rs767658655	518	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1269022430 CA338628530	518	G>V		No	ClinGen gnomAD
CA338628476 rs1570403843	521	V>G		No	ClinGen Ensembl
CA625145 rs761986810	522	H>R		No	ClinGen ExAC TOPMed gnomAD
CA625143 rs369180720	523	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs775894984 CA625141	526	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA18330627 rs971877125	527	L>P		No	ClinGen Ensembl
CA338628129 rs1380993138	528	S>F		No	ClinGen TOPMed
TCGA novel	531	G>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1172469540 CA338628064	531	G>R		No	ClinGen gnomAD
rs1406880492 CA338628057	531	G>V		No	ClinGen TOPMed
rs1476737393 CA338628034	533	G>D		No	ClinGen gnomAD
CA18330307 rs989510381	534	N>K		No	ClinGen Ensembl
rs1273714164 CA338628009	534	N>S		No	ClinGen gnomAD
rs755908156 CA625113	536	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
TCGA novel	537	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA625110 rs757282530	538	I>T		No	ClinGen ExAC gnomAD
CA338627917 rs1199955671	539	G>D		No	ClinGen gnomAD
COSM366772 rs751558238 CA625109	540	G>S	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
TCGA novel	542	A>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA18330265 rs1014565185	543	V>F		No	ClinGen TOPMed
rs759883049 CA625104	544	G>D		No	ClinGen ExAC gnomAD
CA338627825 rs143249377	544	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA625105 rs143249377	544	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1570403048 CA338627800	545	V>G		No	ClinGen Ensembl
CA625103 rs777122540	545	V>M		No	ClinGen ExAC gnomAD
CA338627784 rs1570403032	546	V>G		No	ClinGen Ensembl
rs766765425 CA625102	547	L>Q		No	ClinGen ExAC gnomAD
CA625101 rs200836253	550	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	556	F>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA625099 rs768245462	557	F>L		No	ClinGen ExAC gnomAD
CA625098 rs762560226	559	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs775227521 COSM898862 CA625097	560	R>C	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs769625456 CA625096	560	R>H		No	ClinGen ExAC TOPMed gnomAD
rs150335679 RCV000872751 CA625095	561	R>K		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs760979853 CA625084	562	R>K		No	ClinGen ExAC gnomAD
CA338626730 rs1450265381	563	K>N		No	ClinGen TOPMed gnomAD
rs1570402202 CA338626722	564	N>T		No	ClinGen Ensembl
CA338626700 rs1289768215	565	Q>*		No	ClinGen gnomAD
rs564478428 CA18329843	566	R>C		No	ClinGen 1000Genomes TOPMed gnomAD
CA338626679 rs1310734136	567	A>S		No	ClinGen gnomAD
rs1237325567 CA338626661	568	R>C		No	ClinGen gnomAD
rs56198600 CA625082 VAR_042123 COSM898861	568	R>H	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs1032160732 CA18329818	570	S>F		No	ClinGen Ensembl
CA338626589 rs1177788065	572	E>K		No	ClinGen TOPMed
rs1329173971 CA338626570	573	D>N		No	ClinGen TOPMed gnomAD
CA18329809 rs1013588652	576	F>V		No	ClinGen TOPMed
TCGA novel	577	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs759279095 CA625078	578	K>E		No	ClinGen ExAC gnomAD
CA18329802 rs895175327	578	K>R		No	ClinGen Ensembl
CA18329796 rs531046276	580	E>Q		No	ClinGen 1000Genomes gnomAD
CA625056 rs760503170	581	Q>K		No	ClinGen ExAC gnomAD
TCGA novel	582	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs551019659 CA625053	584	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1424847607 CA338626149	585	L>P		No	ClinGen gnomAD
rs768718355 CA625051	587	T>I		No	ClinGen ExAC gnomAD
rs774304481 CA625052	587	T>S		No	ClinGen ExAC TOPMed gnomAD
CA338626041 rs1198931978	589	V>E		No	ClinGen gnomAD
CA338626060 rs780312721	589	V>L		No	ClinGen ExAC TOPMed gnomAD
CA625049 rs780312721	589	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs781721378 CA625046	594	Y>F		No	ClinGen ExAC gnomAD
CA18329550 rs932922592	595	E>G		No	ClinGen Ensembl
rs752071998 CA625044	596	D>G		No	ClinGen ExAC gnomAD
CA625045 rs757715394	596	D>Y		No	ClinGen ExAC gnomAD
TCGA novel	598	N>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1226654903 CA338625840	598	N>S		No	ClinGen gnomAD
rs1392228464 CA338625771	599	Q>H		No	ClinGen TOPMed
CA18329547 rs921503716	599	Q>R		No	ClinGen TOPMed gnomAD
CA338625732 rs1557504433	600	A>G		No	ClinGen Ensembl
CA18329544 rs1039125105	601	V>L		No	ClinGen TOPMed gnomAD
CA338625713 rs1039125105	601	V>M		No	ClinGen TOPMed gnomAD
CA625043 rs764702010	604	F>L		No	ClinGen ExAC TOPMed gnomAD
CA625042 rs374827051	605	T>A		No	ClinGen ExAC TOPMed gnomAD
CA625039 COSM1185337 rs760295557	607	E>A	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA338625592 rs1352075967	607	E>Q		No	ClinGen gnomAD
CA625038 rs772872973	608	I>V		No	ClinGen ExAC gnomAD
rs761604244 CA625036	609	H>R		No	ClinGen ExAC TOPMed gnomAD
CA625037 rs767261224	609	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA625034 rs768536686	611	S>F		No	ClinGen ExAC gnomAD
rs371964322 CA625032	615	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs371964322 CA625031	615	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	616	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA625030 rs770033530	616	Q>K		No	ClinGen ExAC gnomAD
rs1219365435 CA338625401	617	K>N		No	ClinGen TOPMed gnomAD
CA18329507 rs371863731	617	K>T		No	ClinGen Ensembl
CA625028 rs781593323	620	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA338625093 rs1466178100	625	G>R	Variant assessed as Somatic; 4.649e-05 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	626	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA625005 rs772510492	626	E>K		No	ClinGen ExAC TOPMed gnomAD
CA338625043 rs1190438609	627	V>L		No	ClinGen gnomAD
CA338624962 rs1480001528	629	K>E		No	ClinGen TOPMed gnomAD
CA338624965 rs1480001528	629	K>Q		No	ClinGen TOPMed gnomAD
CA338624900 rs1195809981	631	M>I		No	ClinGen TOPMed gnomAD
CA338624879 rs1557504229	632	L>P		No	ClinGen Ensembl
TCGA novel	633	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA625001 rs749997693	634	T>A		No	ClinGen ExAC gnomAD
rs371377772 CA625000	634	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs749997693 CA625002	634	T>S		No	ClinGen ExAC gnomAD
rs376937559 RCV000498430 CA624999	636	S>L		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs762833283 CA624996	638	K>N		No	ClinGen ExAC TOPMed gnomAD
rs1295935970 CA338624769	638	K>Q		No	ClinGen TOPMed
rs763745213 CA624997	638	K>R		No	ClinGen ExAC gnomAD
rs975323516 CA18329363	640	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA624995 rs752506022	641	V>A		No	ClinGen ExAC gnomAD
rs374518443 CA624994	642	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1316934720 CA338624697	642	P>S		No	ClinGen gnomAD
rs987558481 CA18329318	643	V>L		No	ClinGen TOPMed
rs776917686 CA624992 COSM269107	647	T>M	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA338624540 rs748560372	651	G>R		No	ClinGen ExAC TOPMed gnomAD
RCV000375846 CA624987 rs748560372	651	G>S		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA338624519 rs1372437187	652	Y>H		No	ClinGen gnomAD
CA338624390 rs532367974 COSM126673	657	R>*	upper_aerodigestive_tract [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs1219222518 CA338624382	657	R>Q		No	ClinGen TOPMed
CA338624368 rs1570401035	658	V>G		No	ClinGen Ensembl
rs1254296518 CA338624357	659	D>A		No	ClinGen gnomAD
CA338624354 rs1254296518	659	D>G		No	ClinGen gnomAD
TCGA novel	660	F>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs864309699 CA338624336	660	F>I		No	ClinGen TOPMed gnomAD
CA338624213 rs1244855495	665	G>S		No	ClinGen TOPMed gnomAD
rs1557504048 CA338624181	666	I>T		No	ClinGen Ensembl
TCGA novel	667	M>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA18329240 rs996998440	667	M>V		No	ClinGen Ensembl
CA338624128 rs1479127438	668	G>A		No	ClinGen TOPMed
rs786205441 RCV000171149 CA235737	669	Q>H		No	ClinGen ClinVar Ensembl dbSNP
TCGA novel	670	F>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA338624053 rs1341791002	671	S>G		No	ClinGen gnomAD
CA624978 rs752594090	674	N>K		No	ClinGen ExAC TOPMed gnomAD
CA338623925 rs145962326 COSM395791	677	R>L	lung [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs1183123616 CA338623909	679	E>K		No	ClinGen gnomAD
rs140398645 CA18329196	681	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA TOPMed gnomAD
rs773251029 CA624972	682	I>N		No	ClinGen ExAC gnomAD
CA624971 rs767841341	683	S>T		No	ClinGen ExAC TOPMed gnomAD
CA624970 rs762081659	684	K>R		No	ClinGen ExAC gnomAD
rs577508347 CA624949	685	Y>*		No	ClinGen 1000Genomes ExAC gnomAD
CA18328891 rs1009670403	687	P>S		No	ClinGen TOPMed
COSM4142962 CA624947 rs775915325	688	M>I	thyroid [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs763307879 CA338623440	688	M>L		No	ClinGen ExAC gnomAD
rs763307879 CA624948	688	M>V		No	ClinGen ExAC gnomAD
CA338623409 rs1438382263	689	M>V		No	ClinGen gnomAD
CA338623369 rs1467052182	690	I>V		No	ClinGen TOPMed
CA624945 rs776884554	692	T>A		No	ClinGen ExAC gnomAD
TCGA novel	693	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs772818925 CA624944	694	Y>H		No	ClinGen ExAC TOPMed gnomAD
rs1362609703 CA338623257	695	M>V		No	ClinGen gnomAD
CA18328879 rs148264105	697	N>S		No	ClinGen ESP TOPMed
CA338623093 rs1557503329	701	D>G		No	ClinGen Ensembl
CA624940 rs144576767	702	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA624939 rs768514997	705	R>G		No	ClinGen ExAC TOPMed gnomAD
rs749155445 CA338623023	705	R>P		No	ClinGen ExAC TOPMed gnomAD
rs749155445 CA624938	705	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA338623026 rs768514997	705	R>W		No	ClinGen ExAC TOPMed gnomAD
CA338622914 rs1170410561	706	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1184918114 CA338622828	710	E>K		No	ClinGen gnomAD
CA624907 rs761405706	712	S>G		No	ClinGen ExAC gnomAD
CA624906 rs768403185	712	S>R		No	ClinGen ExAC gnomAD
rs368263231 CA624904	713	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs775040710 CA624903	719	M>V		No	ClinGen ExAC gnomAD
CA338622622 rs376787040	721	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs376787040 COSM1645519 CA624902	721	R>W	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs747058254 CA624899	724	A>T		No	ClinGen ExAC gnomAD
CA624898 rs777878852	726	G>V		No	ClinGen ExAC gnomAD
rs758494317 CA624897	727	M>V		No	ClinGen ExAC gnomAD
rs779016958 CA624895	732	N>S		No	ClinGen ExAC gnomAD
rs755358053 CA624894	733	M>T		No	ClinGen ExAC TOPMed gnomAD
rs1352129060 CA338622478	734	N>S		No	ClinGen gnomAD
CA338622466 rs1381413413	736	V>M		No	ClinGen TOPMed
CA338622452 rs1557503115	738	R>C		No	ClinGen Ensembl
CA624892 rs200893130	738	R>H		No	ClinGen 1000Genomes ExAC gnomAD
rs1014457420 CA18328686	741	A>S		No	ClinGen Ensembl
rs970850963 CA18328683	743	R>C		No	ClinGen TOPMed gnomAD
rs970850963 CA338622423 COSM212302	743	R>G	breast [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA338622421 rs1248077614	743	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1341397204 CA338622418	744	N>H		No	ClinGen TOPMed
rs763660968 CA624889	745	I>V		No	ClinGen ExAC gnomAD
rs762562028 CA624888	746	L>I		No	ClinGen ExAC gnomAD
CA338622381 rs1287005112	749	S>N		No	ClinGen gnomAD
CA338622379 rs1242660371	749	S>R		No	ClinGen gnomAD
rs776327777 CA624884	751	L>P		No	ClinGen ExAC gnomAD
CA624883 rs770831664	752	V>I		No	ClinGen ExAC gnomAD
CA624882 rs746899152	756	S>Y		No	ClinGen ExAC gnomAD
CA338622304 rs1364491474	761	S>Y		No	ClinGen gnomAD
COSM3782397 rs868421931 CA18328642	762	R>H	Variant assessed as Somatic; impact. prostate [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA624879 rs201340421 COSM676522	763	V>M	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed
TCGA novel	765	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1454959039 CA338621681	766	D>Y		No	ClinGen gnomAD
rs779192494 CA624877	767	D>N		No	ClinGen ExAC gnomAD
rs1490203238 CA338621568	769	E>G		No	ClinGen gnomAD
rs367724183 CA624873	769	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	775	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM20569 rs922655349 VAR_042124 CA18328478	777	G>S	stomach a gastric adenocarcinoma sample; somatic mutation [Cosmic, UniProt]	No	ClinGen cosmic curated UniProt TOPMed dbSNP gnomAD
CA338621299 rs1384551420	778	K>R		No	ClinGen gnomAD
CA338621238 rs1440863246	780	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA338621226 rs1252672765	781	I>V		No	ClinGen TOPMed
rs778236000 CA624848	782	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA18328472 rs374550563	782	R>H		No	ClinGen ESP gnomAD
CA338621051 rs1446624219	785	A>D		No	ClinGen gnomAD
CA624846 rs766078852	785	A>S		No	ClinGen ExAC gnomAD
CA624845 rs766078852	785	A>T		No	ClinGen ExAC gnomAD
COSM1335886 CA338621009 rs760459530	786	P>L	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA624844 rs760459530	786	P>R		No	ClinGen ExAC TOPMed gnomAD
rs749294736 CA18328453	790	S>A		No	ClinGen TOPMed gnomAD
rs1194661809 CA338620835	790	S>F	Variant assessed as Somatic; 4.621e-05 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs779823742 CA18328451	791	Y>C		No	ClinGen Ensembl
CA624839 rs768555340	792	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA624841 rs55869078	792	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA624838 rs763110783	794	F>L		No	ClinGen ExAC gnomAD
rs775837138 CA624837	795	T>A		No	ClinGen ExAC gnomAD
CA624836 rs770203896	799	D>N		No	ClinGen ExAC gnomAD
rs868194619 CA338620468	800	V>L		No	ClinGen gnomAD
rs868194619 CA18328406	800	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1303064934 CA338620277	803	F>L		No	ClinGen TOPMed
rs918056240 CA18328402	807	M>T		No	ClinGen TOPMed
rs771347671 CA624833	810	V>M		No	ClinGen ExAC
rs747432932 CA624832	812	T>S		No	ClinGen ExAC gnomAD
rs371130440 CA624830	813	Y>C		No	ClinGen ESP ExAC gnomAD
CA624831 rs146970860	813	Y>N		No	ClinGen ESP ExAC gnomAD
rs755814159 CA624827	815	E>D		No	ClinGen ExAC gnomAD
rs376424805 CA624828	815	E>K		No	ClinGen ESP ExAC gnomAD
rs1465354927 CA338619821	816	R>Q		No	ClinGen gnomAD
CA624826 rs750100556	816	R>W		No	ClinGen ExAC TOPMed gnomAD
CA624825 rs534750274	819	W>G		No	ClinGen 1000Genomes ExAC gnomAD
CA624823 rs200914360	823	N>S		No	ClinGen 1000Genomes ESP ExAC gnomAD
rs2291806 CA624821	825	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA338619090 rs1400476018	826	V>G		No	ClinGen gnomAD
rs1407382109 CA338619059 COSM1747904	827	M>I	urinary_tract [Cosmic]	No	ClinGen cosmic curated gnomAD
rs139382402 CA624795	829	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA18327811 rs889950819	830	I>M		No	ClinGen TOPMed
CA624794 rs774841523	831	N>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	833	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA624791 rs780700517	835	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs934195091 CA18327801	835	R>W		No	ClinGen TOPMed
CA338618766 rs1272950583	837	P>R		No	ClinGen TOPMed
rs746762443 CA624789	838	T>I		No	ClinGen ExAC gnomAD
rs1570396865 CA338618757	838	T>P		No	ClinGen Ensembl
rs1434356630 COSM676523 CA338618672	840	M>I	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA338618666 rs1263467564	841	D>A		No	ClinGen gnomAD
rs1446072827 CA338618670	841	D>N		No	ClinGen TOPMed gnomAD
rs758302025 CA624787	843	P>S		No	ClinGen ExAC gnomAD
rs1301152468 CA338618608	844	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	844	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs765280326 CA624785	845	A>T		No	ClinGen ExAC gnomAD
rs1329771468 CA338618497	851	M>R		No	ClinGen TOPMed
TCGA novel	851	M>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA338618452 rs1437259118	853	C>R		No	ClinGen gnomAD
CA338618316 rs1268630108	857	E>K		No	ClinGen gnomAD
CA338618289 rs1372100828	858	R>C		No	ClinGen TOPMed
rs760902307 CA624781	858	R>H		No	ClinGen ExAC TOPMed gnomAD
rs760902307 CA338618269	858	R>L		No	ClinGen ExAC TOPMed gnomAD
rs1057117169 CA18327752	860	R>C		No	ClinGen TOPMed gnomAD
rs139225059 CA624780	860	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM1687066 rs979820212 CA18327747	861	R>C	Variant assessed as Somatic; 0.0 impact. pancreas skin [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs1171805040 CA338618233	861	R>H		No	ClinGen gnomAD
CA624779 rs767853703	862	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs762176782 CA624778	863	K>E		No	ClinGen ExAC TOPMed gnomAD
rs1474849620 CA338618131	865	A>T		No	ClinGen gnomAD
rs1044969836 CA18327732	867	I>V		No	ClinGen gnomAD
rs1459851083 CA338618046	868	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA338617958 rs1250003326	872	D>N		No	ClinGen TOPMed
rs1242438036 CA338617854	876	R>C		No	ClinGen gnomAD
rs1557501802 CA338617808	878	P>L		No	ClinGen Ensembl
CA624772 rs746635122	880	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA18327720 rs992762127	881	L>F		No	ClinGen TOPMed
CA338617721 rs1218038059	882	K>R		No	ClinGen TOPMed
CA338617708 rs1192287525	883	T>A		No	ClinGen gnomAD
rs1451923596 CA338617690	883	T>S		No	ClinGen TOPMed gnomAD
CA338617659 rs1248680106	884	L>V		No	ClinGen gnomAD
CA338617603 rs1444591722	886	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1192592301 CA338617646	886	D>N		No	ClinGen gnomAD
rs1444591722 CA338617601	886	D>V		No	ClinGen TOPMed
CA18327714 rs370675280	887	F>V		No	ClinGen TOPMed
CA624770 rs138168734	888	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1365728907	890	R>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs778989600 CA624768	890	R>C		No	ClinGen ExAC TOPMed gnomAD
rs142789236 CA624767	890	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs772907047 CA338616383	894	R>G		No	ClinGen ExAC TOPMed gnomAD
CA338616377 rs771918606	894	R>P		No	ClinGen ExAC TOPMed gnomAD
CA624752 rs771918606	894	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA624753 rs772907047	894	R>W		No	ClinGen ExAC TOPMed gnomAD
rs377715035 CA18325771	895	L>F		No	ClinGen Ensembl
CA624750 rs376803353	898	T>M		No	ClinGen ExAC TOPMed gnomAD
CA624747 rs779866830	900	G>S		No	ClinGen ExAC TOPMed gnomAD
CA338616210 rs1490236886	901	S>L		No	ClinGen gnomAD
rs781357250 CA624744	902	E>G		No	ClinGen ExAC gnomAD
rs764404987 CA624743 CA624742	903	G>R		No	ClinGen ExAC gnomAD
rs764404987 CA624741	903	G>W		No	ClinGen ExAC gnomAD
CA624737 rs969822299	904	V>G		No	ClinGen Ensembl
rs952117198 CA18325645	905	P>H		No	ClinGen Ensembl
CA624736 rs753191229	907	R>C		No	ClinGen ExAC TOPMed gnomAD
rs765722529 CA624735	907	R>H		No	ClinGen ExAC gnomAD
rs765722529 CA338616034	907	R>P		No	ClinGen ExAC gnomAD
COSM3719854 CA624734 rs140958128	908	T>M	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs761515968 CA624731	909	V>A		No	ClinGen ExAC gnomAD
CA18325626 rs376030072	911	E>K		No	ClinGen ESP TOPMed gnomAD
rs768511027 CA624729	914	E>G		No	ClinGen ExAC gnomAD
CA624727 rs775490586	915	S>A		No	ClinGen ExAC gnomAD
rs769655574 CA624726	915	S>C		No	ClinGen ExAC gnomAD
rs1570395592 CA338615867	917	K>T		No	ClinGen Ensembl
rs1432724405 CA338615860	918	M>L		No	ClinGen gnomAD
CA18325591 rs1019519398	919	Q>H		No	ClinGen Ensembl
CA338615799 rs1188574885	921	Y>H		No	ClinGen gnomAD
CA624724 rs562985602	922	T>M		No	ClinGen 1000Genomes ExAC gnomAD
CA624722 rs371967970	923	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1186094042 CA338615662	924	H>P		No	ClinGen TOPMed
CA624720 rs758778545	926	M>L		No	ClinGen ExAC gnomAD
rs374228156 CA18325565	926	M>T		No	ClinGen Ensembl
rs1330075960 CA338615569	927	A>E		No	ClinGen gnomAD
rs1221125842 CA338615578	927	A>T		No	ClinGen gnomAD
rs866819724 CA338615539	928	A>G		No	ClinGen gnomAD
CA18325556 rs866819724	928	A>V		No	ClinGen gnomAD
rs765744442 CA624718	929	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA624715 rs374544665	933	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs754426892 CA624716	933	I>V		No	ClinGen ExAC gnomAD
rs774131290 CA624713	934	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1465603404 CA338615402	935	K>R		No	ClinGen gnomAD
TCGA novel	936	V>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA624712 rs763716873	936	V>M		No	ClinGen ExAC gnomAD
rs1172639272 CA338615243	940	T>A		No	ClinGen gnomAD
rs143828420	942	D>=	Variant assessed as Somatic; 4.684e-05 impact. [NCI-TCGA]	No	NCI-TCGA
rs1184554556 CA338615147 COSM1687065	942	D>N	Variant assessed as Somatic; 4.765e-05 impact. skin [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
TCGA novel	943	D>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA338613778 rs1369958686	943	D>Y		No	ClinGen gnomAD
rs772216604 CA624686	945	K>E		No	ClinGen ExAC TOPMed gnomAD
CA624684 rs149692543	946	R>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA338613727 rs1163007953	947	I>T		No	ClinGen gnomAD
CA624683 rs779208687	948	G>V		No	ClinGen ExAC gnomAD
CA338613700 rs1570390360	949	V>G		No	ClinGen Ensembl
CA624681 rs749734969	949	V>L		No	ClinGen ExAC TOPMed gnomAD
CA624682 rs749734969	949	V>M		No	ClinGen ExAC TOPMed gnomAD
rs780673630 CA624680	950	R>P		No	ClinGen ExAC TOPMed gnomAD
rs780673630 CA338613691	950	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs913445751 CA18322778	950	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA624678 rs577470360	953	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA18322757 rs927599315	953	G>V		No	ClinGen TOPMed
rs757935059 CA624676	956	K>N		No	ClinGen ExAC gnomAD
CA624675 COSM70623 rs752235979	957	R>C	ovary Variant assessed as Somatic; 4.639e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA624674 rs765001639	957	R>H		No	ClinGen ExAC TOPMed gnomAD
RCV001171754 rs2024442390	964	G>missing		No	ClinVar dbSNP
CA624670 rs760557758	965	L>F		No	ClinGen ExAC gnomAD
rs1570390162 CA338613358	969	V>G		No	ClinGen Ensembl
CA338613324 rs1457129769	971	T>A		No	ClinGen gnomAD
CA338613293 rs1430651520	973	G>R		No	ClinGen gnomAD
rs200109380 CA624666	975	P>S		No	ClinGen 1000Genomes ExAC gnomAD
rs901210476 CA18322648	976	I>F		No	ClinGen Ensembl
rs369025865 CA624664	976	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA624663 rs780512376	977	I>C		No	ClinGen ExAC gnomAD

2 associated diseases with P29317

[MIM: 116600]: Cataract 6, multiple types (CTRCT6)

An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. CTRCT6 includes posterior polar and age-related cortical cataracts, among others. Posterior polar cataract is a subcapsular opacity, usually disk-shaped, located at the back of the lens. Age-related cortical cataract is a developmental punctate opacity restricted to the cortex. The cataract is white or cerulean, increases in number with age, but rarely affects vision. . Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. CTRCT6 includes posterior polar and age-related cortical cataracts, among others. Posterior polar cataract is a subcapsular opacity, usually disk-shaped, located at the back of the lens. Age-related cortical cataract is a developmental punctate opacity restricted to the cortex. The cataract is white or cerulean, increases in number with age, but rarely affects vision. . Note=The disease is caused by variants affecting the gene represented in this entry.

6 regional properties for P29317

Type	Name	Position	InterPro Accession
domain	C2 domain	30 - 146	IPR000008
domain	HECT domain	594 - 949	IPR000569
domain	WW domain	363 - 396	IPR001202-1
domain	WW domain	395 - 428	IPR001202-2
domain	WW domain	477 - 510	IPR001202-3
domain	WW domain	521 - 554	IPR001202-4

Functions

		Description
EC Number	2.7.10.1	Protein-tyrosine kinases
Subcellular Localization	Cell membrane ; Single-pass type I membrane protein Cell projection, ruffle membrane ; Single-pass type I membrane protein Cell projection, lamellipodium membrane ; Single-pass type I membrane protein Cell junction, focal adhesion	Present at regions of cell-cell contacts but also at the leading edge of migrating cells (PubMed:19573808, PubMed:20861311) Relocates from the plasma membrane to the cytoplasmic and perinuclear regions in cancer cells (PubMed:18794797)
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

10 GO annotations of cellular component

Name	Definition
cell surface	The external part of the cell wall and/or plasma membrane.
dendrite	A neuron projection that has a short, tapering, morphology. Dendrites receive and integrate signals from other neurons or from sensory stimuli, and conduct nerve impulses towards the axon or the cell body. In most neurons, the impulse is conveyed from dendrites to axon via the cell body, but in some types of unipolar neuron, the impulse does not travel via the cell body.
focal adhesion	A cell-substrate junction that anchors the cell to the extracellular matrix and that forms a point of termination of actin filaments. In insects focal adhesion has also been referred to as hemi-adherens junction (HAJ).
lamellipodium	A thin sheetlike process extended by the leading edge of a migrating cell or extending cell process; contains a dense meshwork of actin filaments.
lamellipodium membrane	The portion of the plasma membrane surrounding a lamellipodium.
leading edge membrane	The portion of the plasma membrane surrounding the leading edge of a motile cell.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
receptor complex	Any protein complex that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function.
ruffle membrane	The portion of the plasma membrane surrounding a ruffle.
tight junction	A cell-cell junction that seals cells together in an epithelium in a way that prevents even small molecules from leaking from one side of the sheet to the other.

7 GO annotations of molecular function

Name	Definition
ATP binding	Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
cadherin binding	Binding to cadherin, a type I membrane protein involved in cell adhesion.
growth factor binding	Binding to a growth factor, proteins or polypeptides that stimulate a cell or organism to grow or proliferate.
molecular function activator activity	A molecular function regulator that activates or increases the activity of its target via non-covalent binding that does not result in covalent modification to the target.
transmembrane receptor protein tyrosine kinase activity	Combining with a signal and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity by catalysis of the reaction
transmembrane-ephrin receptor activity	Combining with a transmembrane ephrin to initiate a change in cell activity.
virus receptor activity	Combining with a virus component and mediating entry of the virus into the cell.

43 GO annotations of biological process

Name	Definition
activation of GTPase activity	Any process that initiates the activity of an inactive GTPase through the replacement of GDP by GTP.
axial mesoderm formation	The process that gives rise to the axial mesoderm. This process pertains to the initial formation of the structure from unspecified parts.
axon guidance	The chemotaxis process that directs the migration of an axon growth cone to a specific target site in response to a combination of attractive and repulsive cues.
blood vessel endothelial cell proliferation involved in sprouting angiogenesis	The multiplication or reproduction of blood vessel endothelial cells, resulting in the expansion of a cell population contributing to sprouting angiogenesis.
bone remodeling	The continuous turnover of bone matrix and mineral that involves first, an increase in resorption (osteoclastic activity) and later, reactive bone formation (osteoblastic activity). The process of bone remodeling takes place in the adult skeleton at discrete foci. The process ensures the mechanical integrity of the skeleton throughout life and plays an important role in calcium homeostasis. An imbalance in the regulation of bone resorption and bone formation results in many of the metabolic bone diseases, such as osteoporosis.
branching involved in mammary gland duct morphogenesis	The process in which the branching structure of the mammary gland duct is generated and organized. The mammary gland is a large compound sebaceous gland that in female mammals is modified to secrete milk.
cAMP metabolic process	The chemical reactions and pathways involving the nucleotide cAMP (cyclic AMP, adenosine 3',5'-cyclophosphate).
cell adhesion	The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules.
cell chemotaxis	The directed movement of a motile cell guided by a specific chemical concentration gradient. Movement may be towards a higher concentration (positive chemotaxis) or towards a lower concentration (negative chemotaxis).
cell migration	The controlled self-propelled movement of a cell from one site to a destination guided by molecular cues.
cell motility	Any process involved in the controlled self-propelled movement of a cell that results in translocation of the cell from one place to another.
defense response to Gram-positive bacterium	Reactions triggered in response to the presence of a Gram-positive bacterium that act to protect the cell or organism.
ephrin receptor signaling pathway	The series of molecular signals initiated by ephrin binding to its receptor, and ending with the regulation of a downstream cellular process, e.g. transcription.
inflammatory response	The immediate defensive reaction (by vertebrate tissue) to infection or injury caused by chemical or physical agents. The process is characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages.
intrinsic apoptotic signaling pathway in response to DNA damage	The series of molecular signals in which an intracellular signal is conveyed to trigger the apoptotic death of a cell. The pathway is induced by the detection of DNA damage, and ends when the execution phase of apoptosis is triggered.
keratinocyte differentiation	The process in which a relatively unspecialized cell acquires specialized features of a keratinocyte.
lens fiber cell morphogenesis	The process in which the structures of a lens fiber cell are generated and organized. This process occurs while the initially relatively unspecialized cell is acquiring the specialized features of a lens fiber cell. A lens fiber cell is any of the elongated, tightly packed cells that make up the bulk of the mature lens in a camera-type eye.
mammary gland epithelial cell proliferation	The multiplication or reproduction of mammary gland epithelial cells, resulting in the expansion of a cell population. Mammary gland epithelial cells make up the covering of surfaces of the mammary gland. The mammary gland is a large compound sebaceous gland that in female mammals is modified to secrete milk.
negative regulation of angiogenesis	Any process that stops, prevents, or reduces the frequency, rate or extent of angiogenesis.
negative regulation of chemokine production	Any process that stops, prevents, or reduces the frequency, rate, or extent of chemokine production.
negative regulation of lymphangiogenesis	Any process that stops, prevents or reduces the frequency, rate or extent of lymphangiogenesis.
negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	Any process that stops, prevents, or reduces the frequency, rate or extent of protein kinase B signaling, a series of reactions mediated by the intracellular serine/threonine kinase protein kinase B.
neural tube development	The process whose specific outcome is the progression of the neural tube over time, from its formation to the mature structure. The mature structure of the neural tube exists when the tube has been segmented into the forebrain, midbrain, hindbrain and spinal cord regions. In addition neural crest has budded away from the epithelium.
notochord cell development	The process whose specific outcome is the progression of a notochord cell over time, from its formation to its mature structure. Cell development does not include the steps involved in committing a cell to a specific fate.
notochord formation	The formation of the notochord from the chordamesoderm. The notochord is composed of large cells packed within a firm connective tissue sheath and is found in all chordates at the ventral surface of the neural tube. In vertebrates, the notochord contributes to the vertebral column.
osteoblast differentiation	The process whereby a relatively unspecialized cell acquires the specialized features of an osteoblast, a mesodermal or neural crest cell that gives rise to bone.
osteoclast differentiation	The process in which a relatively unspecialized monocyte acquires the specialized features of an osteoclast. An osteoclast is a specialized phagocytic cell associated with the absorption and removal of the mineralized matrix of bone tissue.
pericyte cell differentiation	The process in which a relatively unspecialized cell acquires the specialized features of a pericyte cell.
phosphatidylinositol 3-kinase/protein kinase B signal transduction	A series of reactions, mediated by the intracellular serine/threonine kinase protein kinase B (also called AKT), which occurs as a result of a single trigger reaction or compound.
phosphorylation	The process of introducing a phosphate group into a molecule, usually with the formation of a phosphoric ester, a phosphoric anhydride or a phosphoric amide.
positive regulation of bicellular tight junction assembly	Any process that activates or increases the frequency, rate or extent of tight junction assembly.
positive regulation of cell migration	Any process that activates or increases the frequency, rate or extent of cell migration.
positive regulation of protein localization to plasma membrane	Any process that activates or increases the frequency, rate or extent of protein localization to plasma membrane.
post-anal tail morphogenesis	The process in which a post-anal tail is generated and organized. A post-anal tail is a muscular region of the body that extends posterior to the anus. The post-anal tail may aid locomotion and balance.
protein localization to plasma membrane	A process in which a protein is transported to, or maintained in, a specific location in the plasma membrane.
regulation of angiogenesis	Any process that modulates the frequency, rate or extent of angiogenesis.
regulation of blood vessel endothelial cell migration	Any process that modulates the frequency, rate or extent of the migration of the endothelial cells of blood vessels.
regulation of cell adhesion mediated by integrin	Any process that modulates the frequency, rate, or extent of cell adhesion mediated by integrin.
regulation of ERK1 and ERK2 cascade	Any process that modulates the frequency, rate or extent of signal transduction mediated by the ERK1 and ERK2 cascade.
regulation of lamellipodium assembly	Any process that modulates the rate, frequency or extent of the formation of a lamellipodium, a thin sheetlike extension of the surface of a migrating cell.
response to growth factor	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 growth factor stimulus.
skeletal system development	The process whose specific outcome is the progression of the skeleton over time, from its formation to the mature structure. The skeleton is the bony framework of the body in vertebrates (endoskeleton) or the hard outer envelope of insects (exoskeleton or dermoskeleton).
vasculogenesis	The differentiation of endothelial cells from progenitor cells during blood vessel development, and the de novo formation of blood vessels and tubes.

88 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P28693	EPHB2	Ephrin type-B receptor 2	Gallus gallus (Chicken)	PR
Q07496	EPHA4	Ephrin type-A receptor 4	Gallus gallus (Chicken)	SS
Q07494	EPHB1	Ephrin type-B receptor 1	Gallus gallus (Chicken)	SS
Q07497	EPHB5	Ephrin type-B receptor 5	Gallus gallus (Chicken)	PR
P29318	EPHA3	Ephrin type-A receptor 3	Gallus gallus (Chicken)	SS
O42422	EPHA7	Ephrin type-A receptor 7	Gallus gallus (Chicken)	SS
P54755	EPHA5	Ephrin type-A receptor 5	Gallus gallus (Chicken)	SS
Q07498	EPHB3	Ephrin type-B receptor 3	Gallus gallus (Chicken)	SS
P0C0K6	EPHB6	Ephrin type-B receptor 6	Pan troglodytes (Chimpanzee)	SS
P29322	EPHA8	Ephrin type-A receptor 8	Homo sapiens (Human)	SS
P54764	EPHA4	Ephrin type-A receptor 4	Homo sapiens (Human)	SS
P54753	EPHB3	Ephrin type-B receptor 3	Homo sapiens (Human)	SS
P29320	EPHA3	Ephrin type-A receptor 3	Homo sapiens (Human)	PR
Q15375	EPHA7	Ephrin type-A receptor 7	Homo sapiens (Human)	SS
Q5JZY3	EPHA10	Ephrin type-A receptor 10	Homo sapiens (Human)	SS
P29323	EPHB2	Ephrin type-B receptor 2	Homo sapiens (Human)	EV
Q9UF33	EPHA6	Ephrin type-A receptor 6	Homo sapiens (Human)	SS
P54762	EPHB1	Ephrin type-B receptor 1	Homo sapiens (Human)	SS
P54756	EPHA5	Ephrin type-A receptor 5	Homo sapiens (Human)	SS
O15197	EPHB6	Ephrin type-B receptor 6	Homo sapiens (Human)	SS
P07949	RET	Proto-oncogene tyrosine-protein kinase receptor Ret	Homo sapiens (Human)	EV
O15146	MUSK	Muscle, skeletal receptor tyrosine-protein kinase	Homo sapiens (Human)	EV
Q01974	ROR2	Tyrosine-protein kinase transmembrane receptor ROR2	Homo sapiens (Human)	EV
Q01973	ROR1	Inactive tyrosine-protein kinase transmembrane receptor ROR1	Homo sapiens (Human)	PR
Q16832	DDR2	Discoidin domain-containing receptor 2	Homo sapiens (Human)	SS
Q08345	DDR1	Epithelial discoidin domain-containing receptor 1	Homo sapiens (Human)	EV
Q16620	NTRK2	BDNF/NT-3 growth factors receptor	Homo sapiens (Human)	EV
P04629	NTRK1	High affinity nerve growth factor receptor	Homo sapiens (Human)	EV
Q16288	NTRK3	NT-3 growth factor receptor	Homo sapiens (Human)	SS
P35916	FLT4	Vascular endothelial growth factor receptor 3	Homo sapiens (Human)	SS
P17948	FLT1	Vascular endothelial growth factor receptor 1	Homo sapiens (Human)	SS
P35968	KDR	Vascular endothelial growth factor receptor 2	Homo sapiens (Human)	EV
P21709	EPHA1	Ephrin type-A receptor 1	Homo sapiens (Human)	SS
P54760	EPHB4	Ephrin type-B receptor 4	Homo sapiens (Human)	SS
P29376	LTK	Leukocyte tyrosine kinase receptor	Homo sapiens (Human)	SS
Q9UM73	ALK	ALK tyrosine kinase receptor	Homo sapiens (Human)	EV
P08922	ROS1	Proto-oncogene tyrosine-protein kinase ROS	Homo sapiens (Human)	SS
P14616	INSRR	Insulin receptor-related protein	Homo sapiens (Human)	SS
P08069	IGF1R	Insulin-like growth factor 1 receptor	Homo sapiens (Human)	EV
P06213	INSR	Insulin receptor	Homo sapiens (Human)	EV
P11362	FGFR1	Fibroblast growth factor receptor 1	Homo sapiens (Human)	EV
P21802	FGFR2	Fibroblast growth factor receptor 2	Homo sapiens (Human)	EV
P22455	FGFR4	Fibroblast growth factor receptor 4	Homo sapiens (Human)	SS
P22607	FGFR3	Fibroblast growth factor receptor 3	Homo sapiens (Human)	EV
Q12866	MERTK	Tyrosine-protein kinase Mer	Homo sapiens (Human)	EV
Q04912	MST1R	Macrophage-stimulating protein receptor	Homo sapiens (Human)	EV
P30530	AXL	Tyrosine-protein kinase receptor UFO	Homo sapiens (Human)	PR
Q06418	TYRO3	Tyrosine-protein kinase receptor TYRO3	Homo sapiens (Human)	SS
P08581	MET	Hepatocyte growth factor receptor	Homo sapiens (Human)	EV
P04626	ERBB2	Receptor tyrosine-protein kinase erbB-2	Homo sapiens (Human)	SS
Q15303	ERBB4	Receptor tyrosine-protein kinase erbB-4	Homo sapiens (Human)	SS
P21860	ERBB3	Receptor tyrosine-protein kinase erbB-3	Homo sapiens (Human)	SS
P00533	EGFR	Epidermal growth factor receptor	Homo sapiens (Human)	EV
P34925	RYK	Tyrosine-protein kinase RYK	Homo sapiens (Human)	PR
Q02763	TEK	Angiopoietin-1 receptor	Homo sapiens (Human)	SS
P35590	TIE1	Tyrosine-protein kinase receptor Tie-1	Homo sapiens (Human)	PR
P10721	KIT	Mast/stem cell growth factor receptor Kit	Homo sapiens (Human)	EV
P09619	PDGFRB	Platelet-derived growth factor receptor beta	Homo sapiens (Human)	EV
P07333	CSF1R	Macrophage colony-stimulating factor 1 receptor	Homo sapiens (Human)	SS
P16234	PDGFRA	Platelet-derived growth factor receptor alpha	Homo sapiens (Human)	EV
P36888	FLT3	Receptor-type tyrosine-protein kinase FLT3	Homo sapiens (Human)	EV
P54754	Ephb3	Ephrin type-B receptor 3	Mus musculus (Mouse)	SS
Q03137	Epha4	Ephrin type-A receptor 4	Mus musculus (Mouse)	SS
Q61772	Epha7	Ephrin type-A receptor 7	Mus musculus (Mouse)	SS
O09127	Epha8	Ephrin type-A receptor 8	Mus musculus (Mouse)	SS
Q8CBF3	Ephb1	Ephrin type-B receptor 1	Mus musculus (Mouse)	SS
Q8BYG9	Epha10	Ephrin type-A receptor 10	Mus musculus (Mouse)	SS
Q60629	Epha5	Ephrin type-A receptor 5	Mus musculus (Mouse)	SS
P29319	Epha3	Ephrin type-A receptor 3	Mus musculus (Mouse)	SS
Q62413	Epha6	Ephrin type-A receptor 6	Mus musculus (Mouse)	SS
Q60750	Epha1	Ephrin type-A receptor 1	Mus musculus (Mouse)	SS
P54763	Ephb2	Ephrin type-B receptor 2	Mus musculus (Mouse)	SS
P54761	Ephb4	Ephrin type-B receptor 4	Mus musculus (Mouse)	PR
O08644	Ephb6	Ephrin type-B receptor 6	Mus musculus (Mouse)	PR
Q03145	Epha2	Ephrin type-A receptor 2	Mus musculus (Mouse)	PR
P54757	Epha5	Ephrin type-A receptor 5	Rattus norvegicus (Rat)	SS
P54759	Epha7	Ephrin type-A receptor 7	Rattus norvegicus (Rat)	SS
P09759	Ephb1	Ephrin type-B receptor 1	Rattus norvegicus (Rat)	SS
P0C0K7	Ephb6	Ephrin type-B receptor 6	Rattus norvegicus (Rat)	SS
O08680	Epha3	Ephrin type-A receptor 3	Rattus norvegicus (Rat)	SS
O61460	vab-1	Ephrin receptor 1	Caenorhabditis elegans	SS
Q8RWZ5	SD25	G-type lectin S-receptor-like serine/threonine-protein kinase SD2-5	Arabidopsis thaliana (Mouse-ear cress)	PR
Q94AG2	SERK1	Somatic embryogenesis receptor kinase 1	Arabidopsis thaliana (Mouse-ear cress)	PR
Q3E991	PRK6	Pollen receptor-like kinase 6	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9FXF2	RKF1	Probable LRR receptor-like serine/threonine-protein kinase RFK1	Arabidopsis thaliana (Mouse-ear cress)	PR
O13147	ephb3	Ephrin type-B receptor 3	Danio rerio (Zebrafish) (Brachydanio rerio)	SS
O73878	ephb4b	Ephrin type-B receptor 4b	Danio rerio (Zebrafish) (Brachydanio rerio)	SS
O13146	epha3	Ephrin type-A receptor 3	Danio rerio (Zebrafish) (Brachydanio rerio)	SS

10	20	30	40	50	60
MELQAARACF	ALLWGCALAA	AAAAQGKEVV	LLDFAAAGGE	LGWLTHPYGK	GWDLMQNIMN
70	80	90	100	110	120
DMPIYMYSVC	NVMSGDQDNW	LRTNWVYRGE	AERIFIELKF	TVRDCNSFPG	GASSCKETFN
130	140	150	160	170	180
LYYAESDLDY	GTNFQKRLFT	KIDTIAPDEI	TVSSDFEARH	VKLNVEERSV	GPLTRKGFYL
190	200	210	220	230	240
AFQDIGACVA	LLSVRVYYKK	CPELLQGLAH	FPETIAGSDA	PSLATVAGTC	VDHAVVPPGG
250	260	270	280	290	300
EEPRMHCAVD	GEWLVPIGQC	LCQAGYEKVE	DACQACSPGF	FKFEASESPC	LECPEHTLPS
310	320	330	340	350	360
PEGATSCECE	EGFFRAPQDP	ASMPCTRPPS	APHYLTAVGM	GAKVELRWTP	PQDSGGREDI
370	380	390	400	410	420
VYSVTCEQCW	PESGECGPCE	ASVRYSEPPH	GLTRTSVTVS	DLEPHMNYTF	TVEARNGVSG
430	440	450	460	470	480
LVTSRSFRTA	SVSINQTEPP	KVRLEGRSTT	SLSVSWSIPP	PQQSRVWKYE	VTYRKKGDSN
490	500	510	520	530	540
SYNVRRTEGF	SVTLDDLAPD	TTYLVQVQAL	TQEGQGAGSK	VHEFQTLSPE	GSGNLAVIGG
550	560	570	580	590	600
VAVGVVLLLV	LAGVGFFIHR	RRKNQRARQS	PEDVYFSKSE	QLKPLKTYVD	PHTYEDPNQA
610	620	630	640	650	660
VLKFTTEIHP	SCVTRQKVIG	AGEFGEVYKG	MLKTSSGKKE	VPVAIKTLKA	GYTEKQRVDF
670	680	690	700	710	720
LGEAGIMGQF	SHHNIIRLEG	VISKYKPMMI	ITEYMENGAL	DKFLREKDGE	FSVLQLVGML
730	740	750	760	770	780
RGIAAGMKYL	ANMNYVHRDL	AARNILVNSN	LVCKVSDFGL	SRVLEDDPEA	TYTTSGGKIP
790	800	810	820	830	840
IRWTAPEAIS	YRKFTSASDV	WSFGIVMWEV	MTYGERPYWE	LSNHEVMKAI	NDGFRLPTPM
850	860	870	880	890	900
DCPSAIYQLM	MQCWQQERAR	RPKFADIVSI	LDKLIRAPDS	LKTLADFDPR	VSIRLPSTSG
910	920	930	940	950	960
SEGVPFRTVS	EWLESIKMQQ	YTEHFMAAGY	TAIEKVVQMT	NDDIKRIGVR	LPGHQKRIAY
970
SLLGLKDQVN	TVGIPI

Descriptions

Annotation based on sequence homology with P29323

Autoinhibitory domains (AIDs)

Accessory elements

756-782 (Activation loop from InterPro)

756-782 (Activation loop from InterPro)

References

Autoinhibited structure

Activated structure

99 structures for P29317

853 variants for P29317

2 associated diseases with P29317

[MIM: 116600]: Cataract 6, multiple types (CTRCT6)

Without disease ID

6 regional properties for P29317

Functions

10 GO annotations of cellular component

7 GO annotations of molecular function

43 GO annotations of biological process

88 homologous proteins in AiPD