AiPD: Autoinhibited Protein Database

P53355

Gene name	DAPK1 (DAPK)
Protein name	Death-associated protein kinase 1
Names	DAP kinase 1
Species	Homo sapiens (Human)
KEGG Pathway	hsa:1612
EC number	2.7.11.1: Protein-serine/threonine kinases
Protein Class	SERINE/THREONINE-PROTEIN KINASE 17 (PTHR24342)

Descriptions

DAPK1, Death-associated protein kinase 1, is a Ca2+/calmodulin (CaM)-regulated Ser/Thr kinase that functions as a positive mediator of programmed cell death. It associates with actin microfilament and has a unique multidomain structure. The structure/function analysis of the protein revealed two modules that regulate the pro-apoptotic effect of DAPK1. One comprises the CaM-regulatory segment, which possesses an autoinhibitory effect on the catalytic activity, relieved by binding to Ca2+-activated CaM. The deletion of this segment from DAPK1 generated a constitutively active kinase, which displayed CaM-independent substrate phosphorylation, and enhanced the apoptotic activity in vivo. Second is the autophosphorylation site (Ser308) which resides within the CaM regulatory segment. The autophosphorylation of Ser308 strengthens a locking device, generated by the interaction of the CaM-autoinhibitory domain with the catalytic cleft. Conversely, absence of the phosphate group weakens the lock and therefore partially relieves the autoinhibition, resulting in Ca2+/CaM-independent activity.

Autoinhibitory domains (AIDs)

Target domain	13-275 (Protein kinase domain)
Relief mechanism	Partner binding, PTM
Assay	Deletion assay, Mutagenesis experiment, Structural analysis

AID

288-320 (CaM-regulatory segment)

Target domain

13-275 (Protein kinase domain)

Relief mechanism

Partner binding (Ca2+-activated CaM binding), PTM (Dephosphorylation of Ser308)

Assay

Deletion assay, Mutagenesis experiment, Structural analysis

Accessory elements

160-182 (Activation loop from InterPro)

Target domain	13-275 (Protein kinase domain)
Relief mechanism
Assay

References

Shohat G et al. (2002) "The DAP-kinase family of proteins: study of a novel group of calcium-regulated death-promoting kinases", Biochimica et biophysica acta, 1600, 45-50

Cohen O et al. (1997) "DAP-kinase is a Ca2+/calmodulin-dependent, cytoskeletal-associated protein kinase, with cell death-inducing functions that depend on its catalytic activity", The EMBO journal, 16, 998-1008

Shohat G et al. (2001) "The pro-apoptotic function of death-associated protein kinase is controlled by a unique inhibitory autophosphorylation-based mechanism", The Journal of biological chemistry, 276, 47460-7

Temmerman K et al. (2014) "A PEF/Y substrate recognition and signature motif plays a critical role in DAPK-related kinase activity", Chemistry & biology, 21, 264-73

Autoinhibited structure

Activated structure

70 structures for P53355

Entry ID	Method	Resolution	Chain	Position	Source
1IG1	X-ray	180 A	A	2-285	PDB
1JKK	X-ray	240 A	A	2-285	PDB
1JKL	X-ray	162 A	A	2-285	PDB
1JKS	X-ray	150 A	A	2-285	PDB
1JKT	X-ray	350 A	A/B	2-285	PDB
1P4F	X-ray	190 A	A	2-285	PDB
1WVW	X-ray	240 A	A	1-278	PDB
1WVX	X-ray	260 A	A	1-278	PDB
1WVY	X-ray	280 A	A	1-278	PDB
1YR5	X-ray	170 A	B	302-320	PDB
2W4J	X-ray	130 A	A	1-277	PDB
2W4K	X-ray	190 A	A	1-302	PDB
2X0G	X-ray	220 A	A	1-334	PDB
2XUU	X-ray	180 A	A	1-334	PDB
2XZS	X-ray	200 A	A/B	2-312	PDB
2Y0A	X-ray	260 A	A	2-304	PDB
2Y4P	X-ray	265 A	A/B/C/D	1-285	PDB
2Y4V	X-ray	180 A	B	302-320	PDB
2YAK	X-ray	220 A	A	1-285	PDB
3DFC	X-ray	190 A	B	1-285	PDB
3DGK	X-ray	170 A	A	1-285	PDB
3EH9	X-ray	170 A	A	2-285	PDB
3EHA	X-ray	160 A	A	2-285	PDB
3F5G	X-ray	185 A	A	2-285	PDB
3F5U	X-ray	200 A	A	1-285	PDB
3GU4	X-ray	135 A	A	1-285	PDB
3GU5	X-ray	165 A	A	1-285	PDB
3GU6	X-ray	149 A	A	1-285	PDB
3GU7	X-ray	190 A	A	1-285	PDB
3GU8	X-ray	160 A	A	1-285	PDB
3GUB	X-ray	171 A	A	1-285	PDB
3ZXT	X-ray	265 A	A/B/C/D	1-285	PDB
4B4L	X-ray	175 A	A	1-334	PDB
4PF4	X-ray	113 A	A	1-277	PDB
4TL0	X-ray	270 A	A	1-334	PDB
4TXC	X-ray	195 A	A	1-285	PDB
4UV0	X-ray	249 A	A	1-321	PDB
4YO4	X-ray	160 A	A	2-285	PDB
4YPD	X-ray	140 A	A	2-285	PDB
5AUT	X-ray	170 A	A	1-285	PDB
5AUU	X-ray	170 A	A	1-285	PDB
5AUV	X-ray	150 A	A	1-285	PDB
5AUW	X-ray	150 A	A	1-285	PDB
5AUX	X-ray	150 A	A	1-285	PDB
5AUY	X-ray	200 A	A	1-285	PDB
5AUZ	X-ray	160 A	A	1-285	PDB
5AV0	X-ray	185 A	A	1-285	PDB
5AV1	X-ray	150 A	A	1-285	PDB
5AV2	X-ray	150 A	A	1-285	PDB
5AV3	X-ray	190 A	A	1-285	PDB
5AV4	X-ray	140 A	A	1-285	PDB
6AAR	X-ray	195 A	A	1-285	PDB
6FHA	X-ray	230 A	A	2-334	PDB
6FHB	X-ray	175 A	A	2-334	PDB
6GY5	X-ray	109 A	U	1334-1344	PDB
6IN4	X-ray	180 A	A	1-285	PDB
6QMO	X-ray	187 A	A	2-310	PDB
6QN4	X-ray	250 A	A	2-310	PDB
7CCU	X-ray	165 A	A	1-285	PDB
7CCV	X-ray	175 A	A	1-285	PDB
7CCW	X-ray	140 A	A	1-285	PDB
8IE5	X-ray	180 A	A	1-285	PDB
8IE6	X-ray	170 A	A	1-285	PDB
8IE7	X-ray	185 A	A	1-285	PDB
8IE8	X-ray	175 A	A	1-285	PDB
8ODZ	EM	360 A	C	301-319	PDB
8OE0	EM	460 A	C	300-319	PDB
8OE4	EM	360 A	D	301-319	PDB
8PB1	EM	350 A	C	300-319	PDB
AF-P53355-F1	Predicted				AlphaFoldDB

1089 variants for P53355

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1264912718 CA374017141	2	T>N		No	ClinGen gnomAD
rs779739080 CA5109626	3	V>M		No	ClinGen ExAC gnomAD
TCGA novel	4	F>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
COSM3849023 COSM3849025 COSM3849024	5	R>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
CA374017163 rs1564111072	5	R>S		No	ClinGen Ensembl
rs746450262 CA5109627	7	E>D		No	ClinGen ExAC TOPMed gnomAD
CA5109629 rs569339922	8	N>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5109630 rs748611690	9	V>M		No	ClinGen ExAC
rs770022301 CA5109631	10	D>N		No	ClinGen ExAC TOPMed gnomAD
CA374017203 rs1362202422	11	D>V		No	ClinGen gnomAD
CA5109633 rs763402906	13	Y>C		No	ClinGen ExAC
rs1005334852 CA196177437	14	D>V		No	ClinGen TOPMed
CA5109634 rs771403284	15	T>A		No	ClinGen ExAC gnomAD
CA374017232 rs1468596640	15	T>I		No	ClinGen gnomAD
rs759598995 CA5109637	16	G>C		No	ClinGen ExAC gnomAD
rs759598995 CA5109636 COSM1110783	16	G>R	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD
CA374017246 rs1326444710	18	E>Q		No	ClinGen gnomAD
rs554925684 CA5109639	20	G>V		No	ClinGen 1000Genomes ExAC gnomAD
rs775973031 CA5109663	25	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs754582198 CA5109665	26	V>F		No	ClinGen ExAC gnomAD
rs767155711 CA5109666	28	K>Q		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	28	K>R	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs755737290 CA5109668 COSM5483357 COSM5483356 COSM5483358	31	R>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
rs777469310 COSM198007 CA5109669 COSM198006	31	R>H	Variant assessed as Somatic; MODERATE impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	ClinGen NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA373958939 rs777469310	31	R>L		No	ClinGen ExAC TOPMed gnomAD
COSM1110785 COSM1110787	32	E>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
CA195571374 rs991380905	34	S>N		No	ClinGen Ensembl
rs1328698228 COSM310475 CA373959010	34	S>R	lung [Cosmic]	No	ClinGen cosmic curated TOPMed
rs757592042 CA5109671	35	T>N		No	ClinGen ExAC gnomAD
rs772531291 CA5109674	36	G>D		No	ClinGen ExAC TOPMed gnomAD
rs746400274 CA5109673	36	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1220890671 CA373959075	38	Q>R		No	ClinGen gnomAD
CA5109676 rs371793443	40	A>V		No	ClinGen ESP ExAC gnomAD
CA373959135 rs1280186415	41	A>P		No	ClinGen TOPMed gnomAD
CA373959134 rs1280186415	41	A>T		No	ClinGen TOPMed gnomAD
CA195571399 rs368830486	42	K>I		No	ClinGen ESP TOPMed
rs372627035 CA5109678	47	R>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs762881204 CA373959348	48	R>S		No	ClinGen ExAC TOPMed gnomAD
rs1275072610 CA373959362	49	T>I		No	ClinGen TOPMed
rs1435981779 CA373959355	49	T>S		No	ClinGen TOPMed
CA373959382 rs1422754947	50	K>R		No	ClinGen gnomAD
TCGA novel	51	S>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
CA373959425 rs1159130810	52	S>T		No	ClinGen gnomAD
CA5109682 rs759575186	53	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA5109681 rs774238093 COSM198009 COSM198008	53	R>W	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs767507074 CA5109683	54	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs903023243 CA195571433	54	R>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA373959464 rs1236051942	55	G>V		No	ClinGen TOPMed
rs556491703 CA5109685	56	V>L		No	ClinGen 1000Genomes ExAC gnomAD
rs556491703 CA5109684	56	V>M		No	ClinGen 1000Genomes ExAC gnomAD
rs1193019269 CA373959491	57	S>R		No	ClinGen gnomAD
COSM304408 CA5109688 rs753510016 COSM304407	58	R>C	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
COSM1463444 COSM3943102 rs375169492 COSM1463443 CA5109690	58	R>H	Variant assessed as Somatic; MODERATE impact. oesophagus large_intestine [NCI-TCGA, Cosmic]	No	ClinGen NCI-TCGA Cosmic cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA5109689 rs375169492	58	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA5109687 rs753510016	58	R>S		No	ClinGen ExAC TOPMed gnomAD
CA373959507 rs1330227143	59	E>K		No	ClinGen TOPMed
rs780593135 CA5109693	61	I>M		No	ClinGen ExAC TOPMed gnomAD
rs768749178 CA5109694	62	E>K		No	ClinGen ExAC gnomAD
rs781317130 CA5109695	63	R>Q		No	ClinGen ExAC gnomAD
CA195571484 rs561834929	66	S>N		No	ClinGen 1000Genomes
CA5109696 rs541641255	66	S>R		No	ClinGen 1000Genomes ExAC gnomAD
CA373959763 rs1472225659	69	K>R		No	ClinGen gnomAD
TCGA novel	70	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1373713115 CA373959904	74	P>H		No	ClinGen TOPMed
CA5109698 rs774303491	75	N>D		No	ClinGen ExAC gnomAD
rs759393262 CA5109699	75	N>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA373960013 rs1435594564	78	T>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs36207429 CA5109701 CA373960069	80	H>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1470851394 CA373960074	81	E>K		No	ClinGen gnomAD
CA373960104 rs1334393527	82	V>A		No	ClinGen gnomAD
CA373960109 rs1234517364	83	Y>N		No	ClinGen TOPMed
rs760156331 COSM4837227 COSM4837228 COSM4837229 CA5109702	87	T>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
rs541023394 CA5109704 COSM213009 COSM213008	89	V>I	breast [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs200255856 CA5109737	96	V>F		No	ClinGen ESP ExAC TOPMed gnomAD
COSM175873 CA5109736 COSM175872 rs200255856	96	V>I	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA5109738 rs768693745	97	A>V		No	ClinGen ExAC gnomAD
CA5109739 rs776542388	99	G>D		No	ClinGen ExAC gnomAD
TCGA novel	99	G>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
CA373950938 rs1362592392	100	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA373950941 rs1362592392	100	E>Q		No	ClinGen gnomAD
rs1362291753 CA373951095	108	K>Q		No	ClinGen gnomAD
CA5109741 rs769267771	109	E>K		No	ClinGen ExAC gnomAD
TCGA novel	111	L>N	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
CA5109742 rs199670912	114	E>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
COSM3780177 COSM3780176 COSM3780175	114	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
CA373951223 rs1207507873	115	E>K		No	ClinGen gnomAD
TCGA novel	119	F>T	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
CA373951376 rs1310190425	122	Q>E		No	ClinGen Ensembl
COSM1110793 COSM1110791	124	L>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs759816672 CA5109746	125	N>S		No	ClinGen ExAC gnomAD
CA373951427 rs1377160081	126	G>C		No	ClinGen gnomAD
rs1448627578 CA373951430	126	G>V		No	ClinGen gnomAD
CA5109747 rs768180350	128	Y>H		No	ClinGen ExAC gnomAD
rs55800264 CA373951463	131	H>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs753233208 CA5109748	131	H>R		No	ClinGen ExAC gnomAD
rs367617639 CA5109750	132	S>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA5109751 rs753795810	133	L>F		No	ClinGen ExAC gnomAD
CA373951490 rs1320849258 COSM3220991 COSM4375619 COSM3220990	136	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD
TCGA novel	139	D>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
COSM3908663 COSM3908662 COSM3908664	142	P>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
CA195563699 rs895069164	143	E>G		No	ClinGen Ensembl
rs1264705050 CA373951686	146	M>T		No	ClinGen gnomAD
rs201432702 CA5109771	146	M>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
COSM3996674 COSM3996673 COSM3996672	148	L>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
CA5109773 rs765533397	151	N>H		No	ClinGen ExAC gnomAD
CA373951782 rs1378249585	151	N>I		No	ClinGen TOPMed
CA373951785 rs1255711123	151	N>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1309985545 CA373951808	152	V>D		No	ClinGen TOPMed
rs750584063 CA5109774	152	V>I		No	ClinGen ExAC gnomAD
rs1184372008 CA373951817	153	P>S		No	ClinGen gnomAD
CA5109775 rs758563684	154	K>R		No	ClinGen ExAC TOPMed gnomAD
CA373951838 COSM198011 rs758563684 COSM198010	154	K>T	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA373951864 rs1283228644	156	R>G		No	ClinGen Ensembl
CA5109776 rs780995964	156	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA373951892 rs756877012	157	I>M		No	ClinGen gnomAD
CA5109777 rs752422926	157	I>V		No	ClinGen ExAC gnomAD
rs756057644 CA5109778	160	I>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	161	D>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	168	I>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
CA5109782 rs778438856	168	I>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs369801129 CA5109784	169	D>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs776012850 CA5109786	170	F>L		No	ClinGen ExAC gnomAD
CA373952202 rs1232222764	173	E>K		No	ClinGen gnomAD
CA5109787 rs769350788	178	F>L		No	ClinGen ExAC gnomAD
COSM3927158 COSM3927159 COSM3927160	180	T>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
CA373952359 rs1564037534	181	P>A		No	ClinGen Ensembl
COSM1110797 COSM1110799	183	F>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM1569894 CA5109789 rs761997264 COSM5065928 COSM1569893	185	A>T	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD
CA373952591 rs1459204941	188	I>V		No	ClinGen TOPMed
rs758185811 CA5109803	189	V>I		No	ClinGen ExAC TOPMed gnomAD
CA373952686 rs1186339326	193	P>L		No	ClinGen gnomAD
CA5109806 rs769115839	197	E>A		No	ClinGen ExAC gnomAD
rs777002331 CA5109807	200	M>T		No	ClinGen ExAC gnomAD
rs1564037818 CA373952888	202	S>N		No	ClinGen Ensembl
CA5109821 rs750025166	203	I>M		No	ClinGen ExAC gnomAD
CA5109822 rs757946595	205	V>I		No	ClinGen ExAC gnomAD
rs1303249702 CA373953045	208	Y>C		No	ClinGen gnomAD
rs746679409 CA5109824	209	I>T		No	ClinGen ExAC gnomAD
rs1404348430 CA373953070	209	I>V		No	ClinGen TOPMed
rs756469590 CA5109846	212	S>N		No	ClinGen ExAC gnomAD
CA5109847 rs756469590	212	S>T		No	ClinGen ExAC gnomAD
COSM6115962 COSM6115961 COSM6115963	214	A>P	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs749825789 CA5109849	214	A>S		No	ClinGen ExAC TOPMed gnomAD
COSM5179321 CA5109848 COSM1463445 rs749825789 COSM1463446	214	A>T	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA373953363 rs1269480026	215	S>C		No	ClinGen gnomAD
rs1261119852 CA373953372	216	P>S		No	ClinGen TOPMed
CA373953462 rs1189197810	221	T>A		No	ClinGen gnomAD
CA195564581 rs376671813	221	T>I		No	ClinGen ESP
rs1564038344 CA373953548	225	T>M		No	ClinGen Ensembl
rs745950347 CA5109851	226	L>S		No	ClinGen ExAC gnomAD
CA5109852 rs201433003	227	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA5109856 rs769648565	231	A>S		No	ClinGen ExAC TOPMed gnomAD
CA5109855 rs769648565	231	A>T		No	ClinGen ExAC TOPMed gnomAD
CA5109857 rs371685332	233	N>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs548113187 CA195564644 COSM280294 COSM280295	235	E>K	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD
rs555869163 CA5109859	237	E>G		No	ClinGen 1000Genomes ExAC gnomAD
CA373953823 rs1367343959	237	E>K		No	ClinGen gnomAD
rs1339507253 CA373953862	238	D>G		No	ClinGen TOPMed gnomAD
CA195564649 rs760190138	239	E>G		No	ClinGen TOPMed gnomAD
TCGA novel	241	F>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
CA373953982 rs1453200341	242	S>I		No	ClinGen gnomAD
TCGA novel	244	T>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1219271770 CA373954076	246	A>D		No	ClinGen TOPMed gnomAD
rs929782055 CA195564660	246	A>T		No	ClinGen Ensembl
rs755682253 CA5109863	250	D>N		No	ClinGen ExAC gnomAD
COSM1110803 COSM1110805	250	D>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1392212787 CA373954194	252	I>V		No	ClinGen TOPMed gnomAD
TCGA novel	253	R>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1167975857 CA373954307	258	K>E		No	ClinGen gnomAD
rs975288984 CA195564696	260	P>S		No	ClinGen TOPMed
CA373954373 rs1409753947	261	K>E		No	ClinGen TOPMed
rs1407640976 CA373954377	261	K>T		No	ClinGen TOPMed gnomAD
COSM6183778 COSM6183779 COSM6183777	262	K>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs374914503 CA5109886	264	M>R		No	ClinGen ESP ExAC gnomAD
rs1166504162 CA373955043	265	T>K		No	ClinGen TOPMed gnomAD
rs1587800140 CA373955053	266	I>V		No	ClinGen Ensembl
CA5109888 rs555981502	268	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1445117779 CA373955108	268	D>G		No	ClinGen gnomAD
rs1164643950 CA373955204	273	P>L		No	ClinGen gnomAD
rs1460637690 CA373955194	273	P>T		No	ClinGen gnomAD
TCGA novel	274	W>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
CA5109889 rs755308417	275	I>M		No	ClinGen ExAC gnomAD
TCGA novel	276	K>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1474673482 CA373955412	277	P>L		No	ClinGen gnomAD
CA5109912 rs748404270	278	K>N		No	ClinGen ExAC gnomAD
CA5109913 rs756338275	279	D>Y		No	ClinGen ExAC gnomAD
rs1159355413 CA373955479	280	T>A		No	ClinGen gnomAD
rs1199953454 CA373955495	280	T>I		No	ClinGen gnomAD
CA5109914 rs778782592	282	Q>K		No	ClinGen ExAC gnomAD
rs1476875319 CA373955536	282	Q>R		No	ClinGen gnomAD
CA5109916 rs772116415	284	L>F		No	ClinGen ExAC gnomAD
CA373955647 rs1306142342	288	A>T		No	ClinGen TOPMed gnomAD
CA195566110 rs983613479	296	F>L		No	ClinGen Ensembl
CA5109917 rs775262422	297	K>Q		No	ClinGen ExAC gnomAD
rs200137928 CA5109918	298	K>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs868463663 CA195566115	300	A>S		No	ClinGen Ensembl
rs1329135466 CA373955968	302	R>G		No	ClinGen TOPMed gnomAD
CA373955976 rs1231416406	302	R>Q		No	ClinGen TOPMed gnomAD
rs1329135466 CA373955974	302	R>W		No	ClinGen TOPMed gnomAD
CA373955989 rs1469252598	303	K>E		No	ClinGen TOPMed
CA373956007 rs1402750802	303	K>N		No	ClinGen gnomAD
TCGA novel	304	K>N	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
COSM4615058 COSM4615059 COSM4615060	305	W>M	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs865941961 CA195567222	307	Q>K		No	ClinGen gnomAD
rs540024568 CA5109950	307	Q>L		No	ClinGen ExAC gnomAD
rs540024568 CA195567232	307	Q>P		No	ClinGen ExAC gnomAD
COSM1202993 rs376057398 COSM1202992 CA5109953	309	V>I	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA195567245 rs930286884 COSM1110809 COSM1110811 COSM3927161	310	R>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen NCI-TCGA Cosmic Ensembl NCI-TCGA
CA373956513 rs1166864144	310	R>H		No	ClinGen TOPMed gnomAD
CA373956515 rs1166864144	310	R>L		No	ClinGen TOPMed gnomAD
rs1460739081 CA373956528	312	I>T		No	ClinGen gnomAD
CA373956535 rs1159538148	313	S>L		No	ClinGen TOPMed gnomAD
rs888463088 CA195567253	314	L>R		No	ClinGen TOPMed
COSM1110814 COSM1110812	317	R>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs780689618 CA5109955	320	R>K		No	ClinGen ExAC gnomAD
CA373956623 rs1396638536	327	N>D		No	ClinGen gnomAD
COSM487639 COSM487640 rs370466694 CA195567263	328	M>V	kidney Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	ClinGen NCI-TCGA Cosmic cosmic curated ESP NCI-TCGA
rs1315466421 CA373956641	329	S>N		No	ClinGen TOPMed gnomAD
rs1233066191 CA373956666	333	S>G		No	ClinGen gnomAD
TCGA novel	333	S>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs771222459 CA5109960	334	D>N		No	ClinGen ExAC gnomAD
CA195568994 rs935075366	339	E>G		No	ClinGen TOPMed
CA5109978 rs777288138	340	E>K		No	ClinGen ExAC
CA5109979 rs748923429	343	F>V		No	ClinGen ExAC TOPMed gnomAD
CA373956764 rs1281616520	345	M>T		No	ClinGen Ensembl
TCGA novel	347	A>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	347	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
COSM3670065 CA373956784 rs1279405794 COSM3670064 COSM3670066	348	I>V	liver [Cosmic]	No	ClinGen cosmic curated gnomAD
rs774914743 CA5109981	350	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs923910308 CA195569029	352	I>V		No	ClinGen TOPMed
CA373956820 rs1329665184	353	N>S		No	ClinGen TOPMed gnomAD
rs1356470158 CA373956837	355	D>V		No	ClinGen gnomAD
rs761198088 CA5109985	362	H>N		No	ClinGen ExAC
CA5109988 rs761950585	369	N>K		No	ClinGen ExAC gnomAD
rs765428113 CA5109989	370	Y>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1489329425 CA373956970	371	D>N		No	ClinGen gnomAD
rs751420292 CA5109990	372	V>I		No	ClinGen ExAC gnomAD
rs1393464199 CA373957014	374	Q>K		No	ClinGen TOPMed gnomAD
rs1453881324 CA373957023	374	Q>L		No	ClinGen TOPMed gnomAD
CA373957080 rs1169223726	377	K>E		No	ClinGen gnomAD
rs989375552	378	H>=	Variant assessed as Somatic; LOW impact. [NCI-TCGA]	No	NCI-TCGA
rs1272393623 CA373957243	378	H>D		No	ClinGen gnomAD
rs1209652455 CA373957290	380	T>A		No	ClinGen gnomAD
rs1433087362 CA373957399	385	I>T		No	ClinGen TOPMed
rs1168552400 CA373957414	386	A>T		No	ClinGen gnomAD
TCGA novel	389	C>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs570212877 CA5110019	389	C>Y		No	ClinGen 1000Genomes ExAC gnomAD
rs1258107676 CA373957471	390	G>E		No	ClinGen Ensembl
CA5110021 rs535945580	393	Q>H		No	ClinGen 1000Genomes ExAC gnomAD
rs1564043383 CA373957526	394	I>V		No	ClinGen Ensembl
CA373957550 rs1587806510	396	Q>*		No	ClinGen Ensembl
CA5110022 rs769113422	396	Q>R		No	ClinGen ExAC gnomAD
rs1318684021 CA373957600	398	L>F		No	ClinGen TOPMed
COSM1472287 COSM1472288	398	L>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
CA373957618 rs1417644394	399	I>V		No	ClinGen gnomAD
COSM256732 CA195569644 rs772431146 COSM256731	403	S>L	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD
rs772431146 CA195569643	403	S>W		No	ClinGen gnomAD
TCGA novel	404	R>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs369627206 CA5110025	404	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA5110027 rs185766001	406	D>N		No	ClinGen 1000Genomes ExAC gnomAD
CA5110028 rs373587396	408	Q>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5110029 rs775214761	409	D>N		No	ClinGen ExAC gnomAD
rs777844307	411	G>=	Variant assessed as Somatic; LOW impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	412	G>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1248914662 CA373958360	413	S>F		No	ClinGen gnomAD
rs771098049 CA5110047	414	N>K		No	ClinGen ExAC gnomAD
rs1437592159 CA373958372	414	N>S		No	ClinGen TOPMed gnomAD
VAR_033235 CA5110050 rs12343465	416	V>I		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1564044116 CA373958410	417	Y>C		No	ClinGen Ensembl
rs776219366 CA5110051	418	W>R		No	ClinGen ExAC gnomAD
CA5110052 rs761852807	420	A>S		No	ClinGen ExAC TOPMed gnomAD
rs975133662 CA195570334	421	R>Q		No	ClinGen gnomAD
CA373958460 rs1395566690	421	R>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs765249476 CA373958468	422	H>N		No	ClinGen ExAC TOPMed gnomAD
rs765249476 CA5110053	422	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA373958515 rs1302863111	425	V>I		No	ClinGen TOPMed gnomAD
rs765999827 CA5110056	426	D>N		No	ClinGen ExAC TOPMed gnomAD
rs765999827 CA373958530	426	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs751249285 CA5110057	429	K>N		No	ClinGen ExAC gnomAD
COSM258771 COSM258772	430	F>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM3780178 COSM3780179 COSM3780180	431	L>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1210743143 CA373958603	432	S>G		No	ClinGen gnomAD
rs987054146 CA195570365	434	N>S		No	ClinGen TOPMed gnomAD
rs373942313 CA5110059	436	C>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs1192614662 CA373958738	437	P>S		No	ClinGen gnomAD
CA195570408 rs924888427	439	D>G		No	ClinGen gnomAD
rs924888427 CA373958811	439	D>V		No	ClinGen gnomAD
CA373958803 rs1203719553	439	D>Y		No	ClinGen TOPMed
rs75637952 CA195570426	440	V>L		No	ClinGen ExAC gnomAD
CA5110061 rs75637952	440	V>M		No	ClinGen ExAC gnomAD
CA373958870 rs1564044311	442	D>A		No	ClinGen Ensembl
CA373958878 rs778221520	442	D>E		No	ClinGen ExAC TOPMed gnomAD
COSM3908669 COSM3908670 COSM3908668	449	L>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM3356075 COSM1110815 CA5110077 COSM1110817 rs759240509	451	V>M	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD
CA5110078 COSM319794 rs750225949 COSM319793	454	R>C	lung large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs753099755 CA5110079	454	R>H		No	ClinGen ExAC TOPMed
rs1212966413 CA373960264	455	Y>C		No	ClinGen gnomAD
CA195576885 rs764392516	457	H>L		No	ClinGen ExAC TOPMed gnomAD
CA5110081 rs764392516	457	H>R		No	ClinGen ExAC TOPMed gnomAD
CA5110082 rs754371924	459	D>N		No	ClinGen ExAC TOPMed gnomAD
rs200758451 CA5110084	460	V>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
VAR_040420	461	A>S		No	UniProt
CA5110085 rs745918989	461	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1293429306 CA373960460	462	Q>H		No	ClinGen TOPMed gnomAD
rs1290569071 CA373960455	462	Q>R		No	ClinGen Ensembl
CA5110088 rs748008180	467	F>V		No	ClinGen ExAC gnomAD
CA5110090 rs773105002	468	G>S		No	ClinGen ExAC gnomAD
CA195576895 rs1034254502	469	S>P		No	ClinGen TOPMed
rs1375973369 CA373960591	470	N>H		No	ClinGen gnomAD
CA195576897 rs866467495	471	P>H		No	ClinGen Ensembl
CA373960675 rs1348019120	476	K>E		No	ClinGen gnomAD
rs991608098 CA195577257	478	E>G		No	ClinGen TOPMed
TCGA novel	479	E>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1187652943 CA373960843	480	T>I		No	ClinGen TOPMed gnomAD
rs1187652943 CA373960841	480	T>S		No	ClinGen TOPMed gnomAD
TCGA novel	482	L>C	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
CA5110112 rs778693801	483	H>R		No	ClinGen ExAC gnomAD
rs1564046682 CA373960869	483	H>Y		No	ClinGen Ensembl
rs757060674 CA5110116	489	G>S		No	ClinGen ExAC gnomAD
CA373960975 rs1369639771	490	Y>C		No	ClinGen TOPMed gnomAD
CA5110118 rs777116572	492	S>F		No	ClinGen ExAC gnomAD
rs1358695423 CA373961025	494	A>S		No	ClinGen TOPMed
COSM266341 COSM266340	494	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
CA5110119 rs762048854	495	K>N		No	ClinGen ExAC TOPMed gnomAD
CA195577270 rs373725255	498	C>F		No	ClinGen ESP
CA195577275 rs375226122	501	G>D		No	ClinGen ESP
CA5110121 rs200488258	501	G>S		No	ClinGen ExAC TOPMed gnomAD
rs372895478 CA5110123	504	V>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA5110125 rs375621531	506	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs550666950 CA5110124	506	I>V		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	507	K>missing	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
COSM3908673 COSM3908671 COSM3908672	507	K>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1554697233 CA373961194	507	K>R		No	ClinGen Ensembl
rs1587810284 CA373961204	508	N>T		No	ClinGen Ensembl
rs202015930 CA195577292	509	R>*		No	ClinGen gnomAD
CA5110126 rs370217634	509	R>Q		No	ClinGen ESP ExAC TOPMed
rs753708136 CA5110127	510	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA5110128 rs567340006	511	G>E		No	ClinGen 1000Genomes ExAC gnomAD
rs1289639039 CA373961241	512	E>K		No	ClinGen TOPMed
COSM3908674 COSM3908675 rs778729228 COSM3908676 CA5110129	513	T>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
rs1587810351 CA373961287	515	L>P		No	ClinGen Ensembl
CA373961304 rs1587810370	517	T>P		No	ClinGen Ensembl
VAR_040421	519	S>A		No	UniProt
rs56284867 CA5110135	520	A>P		No	ClinGen ExAC gnomAD
CA195577314 rs56284867	520	A>S		No	ClinGen ExAC gnomAD
CA373961355 rs1564046923	521	R>W		No	ClinGen Ensembl
rs746514916 CA5110136	522	G>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA5110137 rs768333156	523	Y>C		No	ClinGen ExAC gnomAD
rs776122467 COSM239516 CA5110138 COSM239517 COSM5143979	525	D>N	Variant assessed as Somatic; MODERATE impact. large_intestine endometrium prostate [NCI-TCGA, Cosmic]	No	ClinGen NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs774548939 CA195577324	527	V>M		No	ClinGen gnomAD
CA373961480 rs1224537079	530	L>V		No	ClinGen TOPMed gnomAD
CA5110140 rs770090427	531	A>D		No	ClinGen ExAC gnomAD
rs370724837 CA5110142	532	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs370724837 CA195577334	532	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs375380007 CA373961522	533	H>P		No	ClinGen ESP TOPMed gnomAD
CA5110144 rs778616058	533	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs375380007 CA195577337	533	H>R		No	ClinGen ESP TOPMed gnomAD
rs759658717 CA5110145	534	G>E		No	ClinGen ExAC gnomAD
CA373961539 rs1416806448	535	A>T		No	ClinGen TOPMed
rs1187711860 CA373961549	535	A>V		No	ClinGen TOPMed
rs3818584 CA373961560	536	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5110147 rs552049139	536	D>N		No	ClinGen ExAC TOPMed gnomAD
CA195577349 rs767849326	538	N>I		No	ClinGen Ensembl
rs1004498303 CA373961612	540	C>*		No	ClinGen TOPMed gnomAD
VAR_040422 CA5110149 rs56327474	540	C>Y		No	ClinGen UniProt ExAC dbSNP gnomAD
CA5110151 rs758394250	541	D>E		No	ClinGen ExAC gnomAD
rs750216138 CA5110150	541	D>N		No	ClinGen ExAC TOPMed gnomAD
CA373962466 rs371746705 CA5110181	543	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs746389068 CA5110179	543	D>N		No	ClinGen ExAC TOPMed gnomAD
COSM5157524 rs200262418 COSM5157523 COSM5157525 CA5110182	544	G>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen NCI-TCGA Cosmic 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs138098988 CA5110183	545	H>L		No	ClinGen 1000Genomes ExAC gnomAD
CA373962517 rs1587812002	547	A>V		No	ClinGen Ensembl
rs1268832780 CA373962538	549	H>Y		No	ClinGen gnomAD
CA5110185 rs761986454	551	A>T		No	ClinGen ExAC gnomAD
CA373962577 rs1432280234	552	V>L		No	ClinGen gnomAD
CA373962586 rs1466754725	553	R>T		No	ClinGen gnomAD
CA373962595 rs1208666809	554	R>Q		No	ClinGen gnomAD
CA373962658 rs1294462231	556	Q>H		No	ClinGen TOPMed
CA373962652 rs1340533125	556	Q>R		No	ClinGen TOPMed
rs1202800284 CA373962670	557	M>I		No	ClinGen TOPMed
rs1430305344 CA373962667	557	M>T		No	ClinGen gnomAD
rs751299863 CA5110187	557	M>V		No	ClinGen ExAC TOPMed gnomAD
CA373962753 rs1461394108	563	L>F		No	ClinGen TOPMed
rs377212180 CA5110188	564	L>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA5110189 rs560950064	565	S>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1165961804 CA373962806	567	G>R		No	ClinGen gnomAD
CA373962821 rs1456573001	568	C>Y		No	ClinGen gnomAD
CA5110190 rs202159650	569	F>S		No	ClinGen 1000Genomes ExAC gnomAD
CA373962854 rs1587812113	570	V>A		No	ClinGen Ensembl
COSM456198 rs777370070 COSM456199 CA5110192 COSM5228258	570	V>I	Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic]	No	ClinGen NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
COSM1110825 CA5110194 COSM1110823 rs199940257	571	D>N	endometrium [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
TCGA novel	572	Y>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1234215554 CA373962885	572	Y>F		No	ClinGen gnomAD
CA373962897 rs1332297388	573	Q>E		No	ClinGen gnomAD
rs1260844246 CA373962918	574	D>G		No	ClinGen gnomAD
CA5110197 rs772493067	575	R>K		No	ClinGen ExAC gnomAD
CA5110199 rs747421018	576	H>R		No	ClinGen ExAC TOPMed gnomAD
rs369647209 CA373962957	577	G>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs369647209 CA5110201	577	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA195577901 rs1000561754	578	N>S		No	ClinGen Ensembl
rs1587812208 CA373962992	579	T>I		No	ClinGen Ensembl
CA5110202 rs762039277	581	L>F		No	ClinGen ExAC gnomAD
COSM3908678 COSM3908679 COSM3908677	582	H>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
CA373963026 rs1224820102	582	H>R		No	ClinGen TOPMed
CA373963048 rs1304759952	584	A>T		No	ClinGen gnomAD
CA373963062 rs1364481971	585	C>S		No	ClinGen gnomAD
CA5110205 rs759344653	589	N>D		No	ClinGen ExAC TOPMed gnomAD
rs777329996 CA195577916	589	N>S		No	ClinGen TOPMed gnomAD
rs36214022 CA373963127	591	P>H		No	ClinGen TOPMed gnomAD
rs36214022 VAR_060693 COSM3413797 COSM3413798 COSM3413796 CA195577920	591	P>L	central_nervous_system [Cosmic]	No	ClinGen cosmic curated UniProt TOPMed dbSNP gnomAD
CA5110208 rs373276227	592	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs767404003 CA5110206	592	I>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	593	V>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	596	L>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	596	L>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
CA5110210 rs753385657	597	C>W		No	ClinGen ExAC gnomAD
rs757037199 CA373963233	599	A>E		No	ClinGen ExAC gnomAD
CA5110211 rs757037199	599	A>V		No	ClinGen ExAC gnomAD
rs1236167892 CA373963271	602	N>D		No	ClinGen TOPMed gnomAD
CA195577937 rs752641702	602	N>S		No	ClinGen gnomAD
rs758810974 CA5110214	608	K>*		No	ClinGen ExAC gnomAD
rs1463781631 CA373963940	609	Y>C		No	ClinGen gnomAD
CA5110232 rs766782309	610	G>A		No	ClinGen ExAC gnomAD
CA195580178 rs766782309	610	G>E		No	ClinGen ExAC gnomAD
CA373963949 COSM5359357 COSM5359358 COSM5359359 rs1393420030	611	R>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	ClinGen NCI-TCGA Cosmic NCI-TCGA TOPMed
CA5110233 rs751859796	611	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA5110234 rs755550317	612	T>M		No	ClinGen ExAC TOPMed gnomAD
rs1195043396 CA373963966	614	L>P		No	ClinGen TOPMed
rs1336995003 CA373963977	616	L>F		No	ClinGen Ensembl
CA5110238 rs143161576	617	A>V		No	ClinGen 1000Genomes ExAC gnomAD
CA195580201 rs866653673	618	A>V		No	ClinGen Ensembl
CA5110240 rs749530924	619	N>D		No	ClinGen ExAC gnomAD
rs749530924 CA5110241	619	N>H		No	ClinGen ExAC gnomAD
rs1468966218 CA373963994	619	N>S		No	ClinGen gnomAD
CA373964002 rs1215571089	620	N>S		No	ClinGen TOPMed gnomAD
rs766553100 CA5110243	621	G>R		No	ClinGen ExAC TOPMed gnomAD
CA5110245 VAR_060694 rs36215047	622	I>M		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA5110244 rs768760058	622	I>N		No	ClinGen ExAC TOPMed gnomAD
rs1477025601 CA373964019	623	L>P		No	ClinGen gnomAD
CA373964027 rs761799828	624	D>E		No	ClinGen ExAC TOPMed gnomAD
CA5110248 rs117269616	625	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5110247 rs117269616	625	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA373964035 rs1321093402	626	V>F		No	ClinGen gnomAD
CA5110251 rs202110666	627	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs202110666 CA5110252	627	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs568514209 CA5110250	627	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA373964066 rs1217718194	631	L>P		No	ClinGen gnomAD
rs756548194 CA5110255	634	A>T		No	ClinGen ExAC gnomAD
CA5110257 rs547945641	636	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5110256 rs547945641	636	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA373964117 rs1265893701	639	L>P		No	ClinGen gnomAD
TCGA novel	640	T>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs746034671 CA5110260	641	T>M		No	ClinGen ExAC gnomAD
CA373965037 rs1412477610	642	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA5110284 rs749200842	643	G>R		No	ClinGen ExAC gnomAD
rs1443204141 CA373965082	644	K>E		No	ClinGen gnomAD
rs199838944 CA5110285 COSM4442580 COSM4442579 COSM4442581	645	T>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
rs771706666 CA5110289	652	S>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs761790500 CA5110287	652	S>T		No	ClinGen ExAC TOPMed gnomAD
rs771706666 CA5110288	652	S>W		No	ClinGen ExAC TOPMed gnomAD
CA5110291 rs764469444	653	E>Q		No	ClinGen ExAC gnomAD
rs754329945 CA5110292	655	H>Q		No	ClinGen ExAC TOPMed gnomAD
COSM1315005 COSM1315006	656	E>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM1249680 CA5110294 rs765242689 COSM1249679	656	E>K	oesophagus [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1438501068 CA373965344	657	H>P		No	ClinGen TOPMed gnomAD
CA5110297 rs55994363	658	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs55994363 CA5110296 RCV000891511	658	V>L		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA195587277 rs932882790	659	A>T		No	ClinGen TOPMed
rs1476994920 CA373965401	661	L>F		No	ClinGen gnomAD
rs1396907618 CA373965450	664	R>K		No	ClinGen gnomAD
rs1322565871 CA373965474	666	R>G		No	ClinGen TOPMed
CA5110298 rs369031259 COSM198016 COSM198017	666	R>Q	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA373965490 rs1333553656	667	K>R		No	ClinGen gnomAD
CA5110316 rs763107366	668	D>E		No	ClinGen ExAC gnomAD
rs940484093 CA195597295	669	T>A		No	ClinGen Ensembl
rs766522855 CA5110317	669	T>M		No	ClinGen ExAC TOPMed gnomAD
rs755162039 CA5110319	670	H>Y		No	ClinGen ExAC gnomAD
CA373967086 rs1564067662	671	R>*		No	ClinGen Ensembl
rs377550728 CA5110320	671	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA5110321 rs753656837	673	L>V		No	ClinGen ExAC gnomAD
CA5110323 rs546470070	674	F>L		No	ClinGen 1000Genomes ExAC gnomAD
CA5110322 rs529901305	674	F>S		No	ClinGen 1000Genomes ExAC gnomAD
rs994479071 CA195597376	675	I>V		No	ClinGen TOPMed
CA373967146 rs1262258862	676	Q>*		No	ClinGen gnomAD
rs1041348670 CA195597387	677	Q>*		No	ClinGen TOPMed
CA373967170 COSM403099 COSM403098 rs1489153930	677	Q>H	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
CA373967177 rs1405697118	678	L>F		No	ClinGen TOPMed
COSM3375302 COSM3375301 CA373967187 COSM3375303 rs1276428726	679	R>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	ClinGen NCI-TCGA Cosmic NCI-TCGA TOPMed
rs745756807 CA373967190	679	R>P		No	ClinGen ExAC TOPMed gnomAD
CA5110324 rs745756807	679	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	680	P>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs757935466 CA5110325	681	T>A		No	ClinGen ExAC gnomAD
rs779468165 CA195597404	684	L>M		No	ClinGen ExAC TOPMed gnomAD
rs779468165 CA5110326	684	L>V		No	ClinGen ExAC TOPMed gnomAD
CA373967278 rs1486837390	686	P>L		No	ClinGen TOPMed gnomAD
CA195597432 rs375984602	687	R>I		No	ClinGen TOPMed
CA373967286 rs375984602	687	R>T		No	ClinGen TOPMed
CA5110328 rs185538592	689	K>R		No	ClinGen 1000Genomes ExAC gnomAD
CA373967369 rs1402394544	694	G>D		No	ClinGen gnomAD
CA373967366 rs1361804437	694	G>S		No	ClinGen gnomAD
CA5110330 rs748517245	695	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA373967379 rs1296783552	695	H>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA195597489 rs566313515	696	S>L		No	ClinGen TOPMed gnomAD
rs566313515 CA195597484	696	S>W		No	ClinGen TOPMed gnomAD
COSM1315008 COSM1315007	697	G>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1243357006 CA373967428	699	G>R		No	ClinGen TOPMed gnomAD
COSM5128258 COSM1463451 COSM1463452	701	T>P	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
CA5110333 rs763518301	701	T>P	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs766571993 CA5110334	702	T>I		No	ClinGen ExAC gnomAD
rs766571993 CA5110335	702	T>S		No	ClinGen ExAC gnomAD
rs759736720 CA5110336	703	L>F		No	ClinGen ExAC TOPMed gnomAD
CA373967470 rs1485847643	703	L>P		No	ClinGen gnomAD
rs111297093 CA195597541	704	V>A		No	ClinGen Ensembl
CA373967475 rs1337224018	704	V>L		No	ClinGen TOPMed
rs1564067868 CA373967492	705	E>Q		No	ClinGen Ensembl
rs957085886 CA195554429	707	L>F		No	ClinGen gnomAD
rs890070442 CA195554443	710	G>R		No	ClinGen TOPMed
rs767777494 CA5110337	711	L>M		No	ClinGen ExAC gnomAD
rs1007044453 CA195554454	711	L>P		No	ClinGen TOPMed
rs1041251543 CA195554463	714	S>R		No	ClinGen TOPMed
TCGA novel	717	R>Q	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs757064991 CA5110339	719	R>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA373947052 rs1157334009	719	R>H		No	ClinGen gnomAD
COSM3699755 COSM3699756 COSM3699757	720	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs750364348 CA5110341	720	R>W		No	ClinGen ExAC
COSM198020	721	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
CA5110342 rs758270843	724	S>F		No	ClinGen ExAC gnomAD
rs1395084173 CA373947121	725	S>F		No	ClinGen gnomAD
rs779594791 CA5110343	725	S>T		No	ClinGen ExAC gnomAD
rs746522363 CA5110344	726	T>A		No	ClinGen ExAC TOPMed gnomAD
CA373947134 rs1378444958	726	T>I		No	ClinGen gnomAD
TCGA novel	728	S>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs61730112 CA5110345	729	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA5110347 rs747710400	730	R>W		No	ClinGen ExAC gnomAD
rs770318110 CA5110348	733	P>L		No	ClinGen ExAC TOPMed gnomAD
CA373947217 rs1212046746	733	P>S		No	ClinGen gnomAD
rs1200073165 CA373947268	738	S>A		No	ClinGen gnomAD
CA5110350 rs188391159	738	S>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1200073165 CA373947270	738	S>P		No	ClinGen gnomAD
COSM4877902 COSM4877903 COSM4877901	739	K>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
CA5110351 rs749827174	739	K>T		No	ClinGen ExAC
CA373947299 rs1321591953	740	P>L		No	ClinGen TOPMed
rs1441580019 CA373947293	740	P>S		No	ClinGen gnomAD
rs1564068012 CA373947305	741	T>P		No	ClinGen Ensembl
TCGA novel	742	V>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	742	V>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
CA5110388 rs779080130	745	S>N		No	ClinGen ExAC gnomAD
rs1483252494 CA373947808	746	I>V		No	ClinGen Ensembl
rs746399838 CA5110389	747	N>S		No	ClinGen ExAC TOPMed gnomAD
rs758813732 CA5110390	750	Y>H		No	ClinGen ExAC gnomAD
CA373947847 rs1420279718	752	G>S		No	ClinGen gnomAD
CA373947861 rs1240084880	754	E>K		No	ClinGen TOPMed
CA373947877 COSM198024 COSM198025 rs1358422658	756	V>M	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
TCGA novel	759	R>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
CA5110393 rs768913877	760	S>I		No	ClinGen ExAC gnomAD
CA373947913 rs1360034178	761	R>C		No	ClinGen TOPMed gnomAD
CA373947912 rs1360034178	761	R>G		No	ClinGen TOPMed gnomAD
rs776863449 CA373947914	761	R>H		No	ClinGen ExAC TOPMed gnomAD
rs776863449 CA5110394	761	R>L		No	ClinGen ExAC TOPMed gnomAD
COSM3849028 COSM3849027 rs748331719 CA5110395 COSM3849026	763	M>T	Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic]	No	ClinGen NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1241548697 CA373947952	764	M>K		No	ClinGen gnomAD
CA195558525 rs779320904	766	E>K		No	ClinGen Ensembl
CA373948005 rs1351984548	767	P>L		No	ClinGen gnomAD
CA5110397 rs773960447	768	G>A		No	ClinGen ExAC TOPMed gnomAD
CA373948010 rs1290160130	768	G>C		No	ClinGen TOPMed
rs773960447 CA373948015	768	G>D		No	ClinGen ExAC TOPMed gnomAD
rs759579716 CA5110398	770	T>N		No	ClinGen ExAC gnomAD
COSM3659310 COSM3659312 COSM3659311 CA5110399 rs374989008	772	G>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen NCI-TCGA Cosmic ESP ExAC NCI-TCGA TOPMed gnomAD
COSM3930170 COSM3930169 CA195558557 rs1021325129 COSM3930171	773	M>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen NCI-TCGA Cosmic Ensembl NCI-TCGA
rs775182670 CA5110400	773	M>L		No	ClinGen ExAC gnomAD
rs905513995 CA195558563	776	V>M		No	ClinGen Ensembl
CA5110401 rs577173068	777	F>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA373948146 rs1378344475	778	V>E		No	ClinGen gnomAD
COSM3908685 COSM3908684 COSM3908683	778	V>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1587845008 CA373948158	779	A>V		No	ClinGen Ensembl
CA5110402 rs763654839	780	P>L		No	ClinGen ExAC gnomAD
rs1436515943 CA373948168	780	P>S		No	ClinGen TOPMed
CA373948177 rs756798640	781	T>A		No	ClinGen ExAC TOPMed gnomAD
rs1416404655 CA373948181	781	T>N		No	ClinGen gnomAD
rs756798640 CA5110404	781	T>P		No	ClinGen ExAC TOPMed gnomAD
rs1587845044 CA373948195	782	H>P		No	ClinGen Ensembl
rs1350473919 CA373948190	782	H>Y		No	ClinGen TOPMed
rs199578559 CA5110405	784	P>L		No	ClinGen ExAC TOPMed gnomAD
rs369065084 CA5110407	787	S>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs371503196 CA5110410	789	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA195558608 rs983585908	789	D>H		No	ClinGen TOPMed
CA373948291 rs983585908	789	D>N		No	ClinGen TOPMed
rs371503196 CA195558621	789	D>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA5110411 rs781182772	790	D>E		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	790	D>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs748415475 CA373948331	791	Q>H		No	ClinGen ExAC gnomAD
CA373948366 rs1457831299	794	K>M		No	ClinGen gnomAD
TCGA novel	794	K>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1200045981 CA373948381	795	A>D		No	ClinGen gnomAD
rs1380204486 CA373948377	795	A>T		No	ClinGen gnomAD
rs745622515 CA5110415	796	I>V		No	ClinGen ExAC gnomAD
CA5110416 rs376699283	797	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs1199429464 CA373948402	797	D>G		No	ClinGen TOPMed gnomAD
rs1437216667 CA373948394	797	D>N		No	ClinGen TOPMed gnomAD
CA373948433 rs1476881996	799	Q>R		No	ClinGen gnomAD
CA5110418 rs754559511	801	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1564070957 CA373948486	802	Y>C		No	ClinGen Ensembl
CA5110441 rs761206401	808	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1489124327 CA373950381	810	S>G		No	ClinGen gnomAD
rs772773066 CA373950393	811	V>L		No	ClinGen ExAC TOPMed gnomAD
rs772773066 CA5110443	811	V>M		No	ClinGen ExAC TOPMed gnomAD
COSM3659313 COSM3659315 COSM3659314	818	P>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs766744302 CA373950498 COSM487642 COSM487641	819	V>L	kidney Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC TOPMed gnomAD NCI-TCGA Cosmic
CA5110445 rs766744302	819	V>M		No	ClinGen ExAC TOPMed gnomAD
rs751907646 CA5110446	823	C>S		No	ClinGen ExAC TOPMed gnomAD
rs751907646 CA373950561	823	C>Y		No	ClinGen ExAC TOPMed gnomAD
CA373950575 rs1361580620	824	Y>C		No	ClinGen gnomAD
CA5110447 rs760106068	826	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA195566049 rs77594522	828	A>S		No	ClinGen Ensembl
rs1587852411 CA373950640	828	A>V		No	ClinGen Ensembl
COSM3849031 COSM3849030 COSM3849029	831	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1392351081 CA373950698	833	T>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA5110449 rs560541760	833	T>M		No	ClinGen ExAC TOPMed gnomAD
CA373950723 rs1245186453	835	I>V		No	ClinGen gnomAD
CA5110451 rs777839295	838	V>I		No	ClinGen ExAC gnomAD
CA5110452 rs754017268	841	S>N		No	ClinGen ExAC gnomAD
TCGA novel	842	L>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
CA195566069 rs770574302	843	E>K		No	ClinGen Ensembl
rs757535666 CA5110453	843	E>V		No	ClinGen ExAC gnomAD
CA5110454 rs780057725	846	Y>C		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	847	E>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1201226545 CA373950934	848	I>M		No	ClinGen gnomAD
CA5110455 rs746769266	850	L>Q		No	ClinGen ExAC TOPMed gnomAD
rs1587852479 CA373950998	852	Q>E		No	ClinGen Ensembl
rs768762225 CA5110456	852	Q>H		No	ClinGen ExAC gnomAD
rs1459984677 CA373951005	852	Q>R		No	ClinGen gnomAD
CA373951028 rs1381539491	853	V>L		No	ClinGen gnomAD
TCGA novel	854	I>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs781013241 CA5110457	855	F>L		No	ClinGen ExAC gnomAD
CA373951110 rs1466248158	856	W>*		No	ClinGen gnomAD
rs369653085 CA5110458	857	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs373622506 CA5110459	858	S>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs373622506 CA373951140	858	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1331420369 CA373951238	862	S>Y		No	ClinGen gnomAD
rs370372612 CA195566099	865	P>S		No	ClinGen ESP TOPMed gnomAD
CA5110464 rs759875120	866	V>A		No	ClinGen ExAC TOPMed gnomAD
CA5110463 rs201282589	866	V>F		No	ClinGen 1000Genomes ExAC gnomAD
rs1257923040 CA373951324	867	E>G		No	ClinGen TOPMed gnomAD
TCGA novel	868	E>D	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	868	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
CA5110466 rs753178301	870	I>M		No	ClinGen ExAC TOPMed gnomAD
rs767823620 CA5110465	870	I>V		No	ClinGen ExAC TOPMed gnomAD
CA5110481 rs201550394	871	A>V		No	ClinGen ESP ExAC gnomAD
rs770623157 CA373951622	872	F>L		No	ClinGen ExAC gnomAD
CA373951629 rs368259645	873	G>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1301119771 CA373951632	873	G>D		No	ClinGen gnomAD
CA5110484 rs368259645	873	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs372000773 CA5110486	878	N>K		No	ClinGen ESP ExAC gnomAD
CA373951764 rs1247413118	879	P>L		No	ClinGen TOPMed
rs761149292 CA5110488	879	P>T		No	ClinGen ExAC TOPMed gnomAD
rs764626783 CA5110489	882	V>I		No	ClinGen ExAC gnomAD
rs1225339522 CA373951907	887	T>I		No	ClinGen gnomAD
CA5110493 rs750677374	889	A>T		No	ClinGen ExAC gnomAD
CA195567139 rs374659806	891	I>V		No	ClinGen ESP TOPMed
CA5110495 rs142092748	893	N>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs756046652 CA5110497	895	P>L		No	ClinGen ExAC gnomAD
rs1363537526 CA373952074	895	P>T		No	ClinGen TOPMed
CA373952098 rs777747286	896	R>*		No	ClinGen ExAC TOPMed gnomAD
CA5110499 rs749179181	896	R>L		No	ClinGen ExAC gnomAD
CA5110500 rs749179181	896	R>Q		No	ClinGen ExAC gnomAD
rs368182132 CA5110501	897	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA195567195 rs867424109	897	P>T		No	ClinGen Ensembl
CA373952130 rs1420027508	898	A>T		No	ClinGen gnomAD
rs1429774673 CA373952170	900	G>D		No	ClinGen TOPMed
CA373952190 rs1587853681	901	E>G		No	ClinGen Ensembl
CA373952204 rs1587853688	902	F>V		No	ClinGen Ensembl
rs768853519 CA5110506	905	D>N		No	ClinGen ExAC gnomAD
CA5110507 rs777308298	907	D>G		No	ClinGen ExAC gnomAD
rs770006397 CA5110509	908	T>I		No	ClinGen ExAC gnomAD
COSM4904416 COSM4904418 COSM4904417 rs953872172 CA195567218	909	S>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD
CA373952371 rs953872172	909	S>W		No	ClinGen TOPMed gnomAD
CA373952452 rs1223685942	913	E>D		No	ClinGen TOPMed
rs1286741369 CA373952464	914	I>F		No	ClinGen gnomAD
rs1286741369 CA373952463	914	I>V		No	ClinGen gnomAD
rs572732204 CA195567236	916	N>K		No	ClinGen gnomAD
CA373952946 rs1448202343	919	G>V		No	ClinGen gnomAD
rs1334362956 CA373952995	921	D>V		No	ClinGen gnomAD
rs1453505923 CA373953044	923	H>R		No	ClinGen TOPMed
rs1442014538 CA373953062	924	I>V		No	ClinGen gnomAD
CA373953115 rs1275810030	926	N>H		No	ClinGen gnomAD
rs374262081 CA5110534	926	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	930	V>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs978186549 CA195568167	932	D>Y		No	ClinGen TOPMed
COSM3908693 COSM3908692 COSM3908694	933	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
CA373953331 rs1270728441	934	G>V		No	ClinGen gnomAD
rs750275734 CA5110537	934	G>W		No	ClinGen ExAC gnomAD
rs1185487950 CA373953339	935	A>S		No	ClinGen TOPMed
TCGA novel	935	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
CA5110538 rs546986109	937	G>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs751236795 CA195568210 CA5110540	941	M>I		No	ClinGen ExAC gnomAD
VAR_040423	941	M>T		No	UniProt
TCGA novel	942	K>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs754573059 CA5110541	943	V>I		No	ClinGen ExAC TOPMed gnomAD
COSM260361 COSM260362 COSM4676202	945	R>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM1110837 CA5110543 rs748494486 COSM1110835	945	R>Q	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD
CA5110544 COSM1110838 COSM1110840 rs770473562	947	H>N	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD
CA195568240 rs866455319	951	I>T		No	ClinGen Ensembl
COSM1110841 COSM1110843 rs749723265 CA5110546	952	R>*	Variant assessed as Somatic; HIGH impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD
CA5110547 rs771049627	952	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA373953759 rs1242283926	953	S>T		No	ClinGen TOPMed
CA373953817 rs1402753642	955	I>F		No	ClinGen gnomAD
rs1354327964 CA373953829	955	I>T		No	ClinGen TOPMed
rs953910732 CA195568269	956	V>F		No	ClinGen Ensembl
rs201983425 CA5110549	957	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1340611677 CA373953908	957	S>T		No	ClinGen gnomAD
rs757828940 CA5110581	958	V>I		No	ClinGen ExAC gnomAD
CA5110583 rs746330981	959	C>G		No	ClinGen ExAC TOPMed gnomAD
CA373955054 rs1481901892	962	M>V		No	ClinGen gnomAD
rs758475962 CA5110584	963	T>I		No	ClinGen ExAC gnomAD
rs747289073 CA5110586	966	C>Y		No	ClinGen ExAC gnomAD
CA373955189 rs1340184174	969	I>V		No	ClinGen TOPMed gnomAD
rs768860878 CA5110587	972	T>M		No	ClinGen ExAC TOPMed gnomAD
CA373955232 rs1201088267	972	T>S		No	ClinGen gnomAD
rs1452702319 CA373955258	974	P>R		No	ClinGen TOPMed
rs758039879 CA195569739	974	P>S		No	ClinGen Ensembl
rs867038101 CA373955263	975	S>C		No	ClinGen TOPMed
rs867038101 CA195569746	975	S>F		No	ClinGen TOPMed
CA5110591 rs539585868	975	S>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5110593 rs759482967 CA5110592	977	R>S		No	ClinGen ExAC gnomAD
VAR_040424	977	R>W		No	UniProt
VAR_040425	978	K>N		No	UniProt
rs775131243 CA5110594	978	K>Q		No	ClinGen ExAC gnomAD
rs760474789 CA5110595	978	K>R		No	ClinGen ExAC gnomAD
rs762113926 CA5110598	980	N>S		No	ClinGen ExAC TOPMed gnomAD
rs374406913 CA5110597	980	N>Y		No	ClinGen ESP ExAC gnomAD
COSM122497 rs1239503079 CA373955313	982	P>S	upper_aerodigestive_tract [Cosmic]	No	ClinGen cosmic curated gnomAD
CA373955351 rs1193867621	985	L>V		No	ClinGen TOPMed
rs1275318196 CA373955380	987	S>L		No	ClinGen TOPMed
rs370380903 CA195569794	989	Q>H		No	ClinGen 1000Genomes ESP ExAC gnomAD
rs751606871 CA5110603	990	Q>H		No	ClinGen ExAC gnomAD
VAR_040426	993	Y>C		No	UniProt
CA195569795 rs902595146	993	Y>H		No	ClinGen Ensembl
VAR_040427	994	D>E		No	UniProt
CA373955503 rs1266405000	994	D>N		No	ClinGen TOPMed gnomAD
rs1420966141 CA373955533	995	V>A		No	ClinGen gnomAD
CA5110607 rs201359193	995	V>L		No	ClinGen 1000Genomes ExAC gnomAD
rs201359193 CA5110606	995	V>M		No	ClinGen 1000Genomes ExAC gnomAD
CA5110609 rs778795308	996	Q>L		No	ClinGen ExAC TOPMed gnomAD
CA5110608 rs778795308	996	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA195569830 rs957299053	997	D>Y		No	ClinGen Ensembl
rs772135208 CA5110610	999	L>P		No	ClinGen ExAC gnomAD
CA373955621 rs1351453659	999	L>V		No	ClinGen TOPMed
rs1235911951 CA373955659	1001	P>S		No	ClinGen Ensembl
CA373955707 rs1301057616	1003	A>S		No	ClinGen gnomAD
rs367611824 CA5110613	1005	E>K		No	ClinGen ESP ExAC gnomAD
VAR_040428	1005	E>Q		No	UniProt
rs776149364 CA5110614	1006	E>K		No	ClinGen ExAC TOPMed gnomAD
VAR_040429	1007	D>Y		No	UniProt
VAR_040430	1008	L>P		No	UniProt
rs1364127199 CA373955815	1009	R>K		No	ClinGen TOPMed gnomAD
VAR_040431 CA195569860 rs371784492	1010	R>C		No	ClinGen UniProt ESP dbSNP gnomAD
CA5110617 rs377225421	1010	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs377225421 CA5110618	1010	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA373955838 rs1297442521	1011	I>V		No	ClinGen gnomAD
CA373955876 rs1360779875	1012	A>T		No	ClinGen gnomAD
TCGA novel	1012	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs763491062 CA5110619	1013	Q>P		No	ClinGen ExAC gnomAD
VAR_040432	1018	T>A		No	UniProt
CA5110621 rs752014007	1020	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1587859091 CA373956925	1021	I>S		No	ClinGen Ensembl
CA5110655 rs748875474	1022	N>S		No	ClinGen ExAC gnomAD
CA5110656 rs771299899	1023	I>V		No	ClinGen ExAC gnomAD
rs1053126838 CA195571569	1024	M>V		No	ClinGen Ensembl
CA5110658 rs199587488	1026	S>T		No	ClinGen 1000Genomes ExAC gnomAD
rs768041728 CA5110659	1028	T>I		No	ClinGen ExAC gnomAD
TCGA novel	1030	Q>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
CA195571586 rs891762778	1031	D>N		No	ClinGen Ensembl
rs775485042 CA5110660	1031	D>V		No	ClinGen ExAC gnomAD
CA373957116 rs1230943725	1033	L>V		No	ClinGen TOPMed gnomAD
CA5110662 rs764198979	1034	L>F		No	ClinGen ExAC gnomAD
rs1181645747 CA373957144	1035	L>P		No	ClinGen gnomAD
CA373957140 rs1470265147	1035	L>V		No	ClinGen TOPMed
CA373957156 rs1587859152	1036	D>A		No	ClinGen Ensembl
rs1420321578 CA373957152	1036	D>H		No	ClinGen TOPMed
rs757537404 CA5110664	1037	P>A		No	ClinGen ExAC gnomAD
rs749210054 CA5110665	1038	R>C		No	ClinGen ExAC TOPMed gnomAD
COSM6031412 COSM6031413 CA5110666 rs768648374 COSM6031411	1038	R>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
rs1459650397 CA373957195	1039	W>C		No	ClinGen TOPMed
CA373957185 rs1410992472	1039	W>R		No	ClinGen gnomAD
rs1331314682 CA373957230	1042	T>A		No	ClinGen gnomAD
CA373957238 rs1564080732	1042	T>R		No	ClinGen Ensembl
COSM3395917 rs201573412 COSM3395919 CA5110668	1044	V>I	pancreas [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
COSM1110846 COSM1110844	1045	L>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs960508569 CA373957324	1047	K>M		No	ClinGen TOPMed
rs960508569 CA195571605	1047	K>R		No	ClinGen TOPMed
CA5110671 rs368803870	1051	V>M		No	ClinGen ExAC TOPMed gnomAD
CA373957423 rs1587859223	1053	T>P		No	ClinGen Ensembl
rs779189020 CA5110674	1055	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs370890284 CA5110673	1055	R>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs373945195 CA5110675	1056	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs776064946 CA5110677	1058	H>N		No	ClinGen ExAC TOPMed gnomAD
CA373957509 rs768913337 CA5110679	1058	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs761203080 CA5110678	1058	H>R		No	ClinGen ExAC gnomAD
rs776064946 CA195571634	1058	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs371272256 CA5110681	1061	R>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs765474186 CA5110682	1062	G>S		No	ClinGen ExAC gnomAD
rs560707636 CA5110683	1063	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA373957621 rs1367099492	1063	R>H		No	ClinGen gnomAD
rs1168102307 CA373957682	1066	V>A		No	ClinGen gnomAD
rs200178571 CA373957675	1066	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5110684 rs200178571	1066	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1326463892 CA373957706	1068	D>G		No	ClinGen gnomAD
CA5110685 rs767152391 COSM3395920 COSM3395922	1071	R>C	pancreas [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs760281291 CA5110686	1071	R>H		No	ClinGen ExAC TOPMed gnomAD
CA373957771 rs760281291	1071	R>L		No	ClinGen ExAC TOPMed gnomAD
CA195571687 rs1053645660	1073	V>L		No	ClinGen Ensembl
rs1293639768 CA373957822	1075	D>H		No	ClinGen gnomAD
CA373957820 rs1293639768	1075	D>N		No	ClinGen gnomAD
CA5110688 rs201236005	1076	S>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA5110690 rs776053489	1077	D>N		No	ClinGen ExAC gnomAD
CA5110691 rs778653784	1078	V>M		No	ClinGen ExAC gnomAD
rs1449364959 CA373957872	1079	E>K		No	ClinGen gnomAD
rs1164670646 CA373957884	1080	E>G		No	ClinGen gnomAD
CA5110694 rs780265409	1083	Q>E		No	ClinGen ExAC gnomAD
rs1385205336 CA373957913	1085	L>F		No	ClinGen gnomAD
COSM1463461 COSM5100202 COSM1463462	1085	L>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
CA373957918 rs769252894	1086	D>N		No	ClinGen ExAC TOPMed gnomAD
rs769252894 CA5110696	1086	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs776899159 CA5110697	1090	I>L		No	ClinGen ExAC TOPMed gnomAD
CA5110698 rs762006184	1091	C>F		No	ClinGen ExAC gnomAD
COSM1110852 rs199730400 COSM1110850 CA5110699	1092	A>T	endometrium [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs1265143927 CA373957967	1093	R>Q		No	ClinGen TOPMed gnomAD
rs773488770 CA5110700	1093	R>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs763028385 CA5110701	1094	D>V		No	ClinGen ExAC gnomAD
rs767405468 CA5110702	1096	S>N		No	ClinGen ExAC TOPMed gnomAD
rs1266296290 CA373957992	1097	S>N		No	ClinGen gnomAD
rs1245361857 CA373957999	1098	G>E		No	ClinGen gnomAD
CA5110704 rs760647790	1098	G>R		No	ClinGen ExAC gnomAD
CA373958003 rs1422494583	1099	T>A		No	ClinGen gnomAD
CA5110705 rs547311130	1099	T>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs753729275 CA5110706	1100	M>I		No	ClinGen ExAC TOPMed gnomAD
CA373958010 rs1364057113	1100	M>T		No	ClinGen gnomAD
CA373958008 rs1475333000	1100	M>V		No	ClinGen TOPMed
rs200627640 CA5110708	1103	V>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	1104	P>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
CA373958040 rs1338554802	1105	A>T		No	ClinGen gnomAD
rs1564081010 CA373958054	1107	I>N		No	ClinGen Ensembl
rs1307406884 CA373958067	1109	T>A		No	ClinGen gnomAD
rs757979793 CA5110710	1109	T>R		No	ClinGen ExAC gnomAD
rs1286567289 CA373958076	1110	D>E		No	ClinGen gnomAD
rs780505210 CA5110711	1110	D>G		No	ClinGen ExAC gnomAD
rs1482544329 CA373958101	1114	R>C		No	ClinGen TOPMed gnomAD
rs375598719 COSM5164420 CA5110713 COSM1463463 COSM1463464	1114	R>H	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen NCI-TCGA Cosmic cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA373958109 rs1473844345	1115	S>F		No	ClinGen Ensembl
CA373958106 rs1251627903	1115	S>P		No	ClinGen gnomAD
rs1420530493 CA373958113	1116	W>*		No	ClinGen gnomAD
CA373958125 rs1179480719	1118	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA5110715 rs748598886	1119	E>*		No	ClinGen ExAC
rs1026626629 CA195571772	1122	E>K		No	ClinGen TOPMed gnomAD
CA5110718 rs749593976	1124	M>V		No	ClinGen ExAC gnomAD
CA373958200 rs1564081083	1128	G>D		No	ClinGen Ensembl
COSM1165778 rs775316360 COSM1165779 CA5110720	1129	V>M	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs760489928 CA5110721	1130	R>C		No	ClinGen ExAC gnomAD
COSM3358376 CA373958210 COSM3358375 COSM3358374 rs1411904981	1130	R>H	Variant assessed as Somatic; MODERATE impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic]	No	ClinGen NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD
rs1366893130 CA373958214	1131	I>V		No	ClinGen TOPMed
rs763840510 CA5110722	1132	V>M		No	ClinGen ExAC TOPMed gnomAD
CA5110723 rs776558558	1133	P>S		No	ClinGen ExAC
rs942463399 CA195571840	1134	V>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1481788555 CA373958237	1135	E>*		No	ClinGen gnomAD
CA195571842 rs912804598	1136	H>Y		No	ClinGen gnomAD
CA5110725 rs764866331	1137	L>V		No	ClinGen ExAC gnomAD
CA373958257 rs1170041028	1138	T>P		No	ClinGen TOPMed
rs1201022363 CA373958260	1138	T>S		No	ClinGen gnomAD
CA373958265 rs1432553628	1139	P>R		No	ClinGen gnomAD
rs766150962 CA5110728	1140	F>Y		No	ClinGen ExAC gnomAD
CA373958276 rs1374599230 COSM139789 COSM139788	1141	P>S	skin [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs751215710 CA5110729	1144	I>V		No	ClinGen ExAC gnomAD
CA5110731 rs781642458	1145	F>C		No	ClinGen ExAC
rs1370239523 CA373958332	1148	V>I		No	ClinGen gnomAD
rs913345098 CA195571877	1154	R>Q		No	ClinGen TOPMed
rs777950655 CA5110734	1154	R>W		No	ClinGen ExAC TOPMed gnomAD
rs770996578 CA195571885	1156	I>N		No	ClinGen ExAC gnomAD
rs770996578 CA5110736	1156	I>T		No	ClinGen ExAC gnomAD
rs1269713096 CA373958449	1157	H>Y		No	ClinGen TOPMed
CA195571894 rs111563187	1159	Q>H		No	ClinGen Ensembl
rs372546766 CA5110738	1163	G>D		No	ClinGen ESP ExAC gnomAD
CA5110741 rs776403573	1164	D>E		No	ClinGen ExAC TOPMed gnomAD
CA195571922 rs937952689	1164	D>N		No	ClinGen TOPMed gnomAD
rs765062357 CA5110742	1165	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs201991862 CA5110743	1165	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5110746 rs751270599	1167	I>F		No	ClinGen ExAC TOPMed gnomAD
rs374924377 CA5110748	1168	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA373958617 rs1425534614	1168	R>H		No	ClinGen gnomAD
CA373958692 rs1348342501	1171	V>M		No	ClinGen gnomAD
CA373958741 rs1457526427	1173	G>D		No	ClinGen gnomAD
rs1457526427 CA373958750	1173	G>V		No	ClinGen gnomAD
rs1228652449 CA373958772	1174	C>Y		No	ClinGen gnomAD
CA5110750 rs756695226	1175	K>R		No	ClinGen ExAC TOPMed gnomAD
CA373958879 rs1297370915	1178	N>K		No	ClinGen gnomAD
CA195571966 rs754885077	1179	R>C		No	ClinGen gnomAD
CA5110751 rs778168639	1179	R>H		No	ClinGen ExAC TOPMed gnomAD
CA373958927 rs1320741871	1180	G>E		No	ClinGen gnomAD
COSM1110856	1181	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
CA373958985 rs1430558936	1182	E>G		No	ClinGen TOPMed
CA195572001 COSM122498 rs867659394	1182	E>K	upper_aerodigestive_tract [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs1587859791 CA373959037	1186	L>V		No	ClinGen Ensembl
rs1036853710 CA195572008	1188	V>A		No	ClinGen Ensembl
rs1036853710 CA373959088	1188	V>G		No	ClinGen Ensembl
CA5110757 rs772248268	1189	N>S		No	ClinGen ExAC gnomAD
CA5110758 rs781012306	1190	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA5110760 rs769590904	1191	G>S		No	ClinGen ExAC TOPMed gnomAD
rs773027861 CA5110761	1194	I>F		No	ClinGen ExAC gnomAD
CA373959237 rs1320406247	1195	E>G		No	ClinGen gnomAD
rs1407463179 CA373959251	1196	V>F		No	ClinGen gnomAD
CA373959263 rs1587859843	1196	V>G		No	ClinGen Ensembl
rs1450721789 CA373959271	1197	Q>R		No	ClinGen gnomAD
rs762890356 CA5110762	1199	R>C		No	ClinGen ExAC TOPMed gnomAD
CA195572038 rs953877229	1199	R>H		No	ClinGen gnomAD
CA5110764 rs773994467	1200	G>C		No	ClinGen ExAC TOPMed gnomAD
rs773994467 CA5110765	1200	G>S		No	ClinGen ExAC TOPMed gnomAD
rs760979824 CA5110768	1202	E>V		No	ClinGen ExAC gnomAD
CA5110769 rs764456950	1203	T>M		No	ClinGen ExAC gnomAD
rs1472610463 CA373959381	1204	E>K		No	ClinGen gnomAD
rs1183084659 CA373959453	1208	C>*		No	ClinGen gnomAD
rs1414302217 CA373959463	1209	C>Y		No	ClinGen gnomAD
CA5110774 rs185610007	1214	S>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1587859941 CA373959526	1215	V>G		No	ClinGen Ensembl
CA373959533 rs1442493970	1216	C>F		No	ClinGen TOPMed gnomAD
CA373959530 rs1442493970	1216	C>Y		No	ClinGen TOPMed gnomAD
rs1422452387 CA373959566	1218	T>A		No	ClinGen gnomAD
rs769499581 CA5110777	1218	T>I		No	ClinGen ExAC gnomAD
CA5110780 rs770986643	1219	I>T		No	ClinGen ExAC gnomAD
rs749223523 CA5110779	1219	I>V		No	ClinGen ExAC gnomAD
rs774061570 CA5110781	1221	N>S		No	ClinGen ExAC gnomAD
rs913381051 CA195572099	1222	V>I		No	ClinGen Ensembl
CA373959694 rs377542947	1225	T>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5110783 rs377542947	1225	T>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA373959730 rs1410253996	1227	L>Q		No	ClinGen TOPMed
TCGA novel	1230	L>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
CA195572139 rs963776608	1235	H>N		No	ClinGen TOPMed gnomAD
rs1587860018 CA373959884	1236	Y>S		No	ClinGen Ensembl
CA373959939 rs1170838138	1239	P>R		No	ClinGen gnomAD
rs765749362 CA5110789	1239	P>S		No	ClinGen ExAC gnomAD
CA373959968 rs1368367013	1240	Q>H		No	ClinGen gnomAD
CA5110791 rs373759742	1243	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs756349430 CA195572174	1243	R>W		No	ClinGen Ensembl
CA373960034 rs1332254428	1244	E>G		No	ClinGen gnomAD
rs1587860050 CA373960023	1244	E>K		No	ClinGen Ensembl
CA5110792 rs766434539	1245	H>Y		No	ClinGen ExAC
CA373960095 rs1304820607	1246	H>Q		No	ClinGen gnomAD
rs377648883 CA5110794	1249	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1230390191 CA373960225	1250	M>I		No	ClinGen gnomAD
rs777495186 CA5110795	1251	I>N		No	ClinGen ExAC TOPMed gnomAD
rs777495186 CA5110796	1251	I>T		No	ClinGen ExAC TOPMed gnomAD
rs1358334841 CA373960269	1252	Y>*		No	ClinGen TOPMed
rs1587860082 CA373960266	1252	Y>S		No	ClinGen Ensembl
CA5110797 rs757059151	1253	Q>R		No	ClinGen ExAC gnomAD
rs1227561146 CA373960299	1254	P>A		No	ClinGen gnomAD
rs1204615034 CA373960319	1255	R>W		No	ClinGen gnomAD
CA5110799 rs745758328	1257	F>C		No	ClinGen ExAC gnomAD
COSM1110862 COSM1110860	1257	F>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs778995677 CA5110798	1257	F>V		No	ClinGen ExAC gnomAD
rs746709775 CA5110802	1259	R>Q		No	ClinGen ExAC gnomAD
COSM1249677 CA5110801 rs771500801 COSM1249678 COSM5176509	1259	R>W	Variant assessed as Somatic; MODERATE impact. oesophagus large_intestine [NCI-TCGA, Cosmic]	No	ClinGen NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA195572270 rs768344449	1261	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs776092155 CA5110804	1264	K>T		No	ClinGen ExAC gnomAD
CA5110805 rs762172693	1265	E>*		No	ClinGen ExAC gnomAD
rs1322277188 CA373960563	1266	T>I		No	ClinGen gnomAD
rs949307887 CA195572290	1267	S>L		No	ClinGen TOPMed
rs1327007121 CA373960600	1269	T>I		No	ClinGen gnomAD
CA373960617 rs1437132935	1271	T>A		No	ClinGen gnomAD
RCV000964506 CA5110808 CA5110809 rs56169226 VAR_040433	1272	M>I		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs202163821 CA5110811	1273	G>A		No	ClinGen ExAC TOPMed gnomAD
CA373960650 rs202163821	1273	G>E		No	ClinGen ExAC TOPMed gnomAD
CA5110810 CA373960645 rs763428159	1273	G>R		No	ClinGen ExAC TOPMed gnomAD
CA195572300 rs202163821	1273	G>V		No	ClinGen ExAC TOPMed gnomAD
CA373960647 rs763428159	1273	G>W		No	ClinGen ExAC TOPMed gnomAD
CA373960661 rs995329923	1274	G>E		No	ClinGen TOPMed gnomAD
CA195572305 rs995329923	1274	G>V		No	ClinGen TOPMed gnomAD
COSM5105969 COSM1463466 COSM1463465	1275	Y>G	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM294293 COSM4339061 COSM294292	1275	Y>T	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM1463468 rs779681511 COSM4339060 COSM1463467	1275	Y>V	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA
CA373960710 rs1312273199	1278	S>N		No	ClinGen TOPMed gnomAD
CA373960722 rs755212010	1279	F>L		No	ClinGen ExAC gnomAD
COSM3996677 COSM3996675 COSM3996676	1279	F>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
TCGA novel	1280	S>T	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1246590063 CA373960750	1283	M>I		No	ClinGen TOPMed gnomAD
rs375308776 CA195572307	1283	M>K		No	ClinGen ESP ExAC gnomAD
rs375308776 CA5110814	1283	M>T		No	ClinGen ESP ExAC gnomAD
rs1465771106 COSM296902 COSM296903 CA373960747	1283	M>V	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA5110816 rs200111269	1285	F>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA373960768 rs1188677511	1286	G>R		No	ClinGen gnomAD
COSM230645 rs758356136 COSM230644 CA5110819	1289	D>N	skin [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA5110821 rs202187758	1290	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1564081870 CA373960883	1294	A>G		No	ClinGen Ensembl
CA5110825 rs770194101	1294	A>T		No	ClinGen ExAC TOPMed gnomAD
rs773534718 CA5110826	1296	L>H		No	ClinGen ExAC TOPMed gnomAD
CA373960907 rs773534718	1296	L>P		No	ClinGen ExAC TOPMed gnomAD
rs1448125447 CA373960912	1297	G>S		No	ClinGen Ensembl
CA5110828 rs771456029	1298	M>L		No	ClinGen ExAC gnomAD
rs1283681783 CA373960931	1298	M>T		No	ClinGen gnomAD
CA373960925 rs771456029	1298	M>V		No	ClinGen ExAC gnomAD
CA373960948 rs1329871931	1299	D>G		No	ClinGen gnomAD
CA195572343 rs1010407437	1299	D>N		No	ClinGen TOPMed gnomAD
rs1210657437 CA373960954	1300	I>V		No	ClinGen TOPMed gnomAD
rs1266855123 CA373960964	1301	H>Y		No	ClinGen gnomAD
CA373961042 rs1404476454	1306	N>S		No	ClinGen TOPMed
rs759663572 CA5110830	1308	L>V		No	ClinGen ExAC gnomAD
rs752987582 CA5110832	1309	T>I		No	ClinGen ExAC gnomAD
CA5110833 rs760953321	1310	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA195572365 rs371992448 COSM456200 COSM456201	1310	R>W	Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP NCI-TCGA TOPMed
rs374150775 CA5110834	1312	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs750234008 CA5110835	1314	S>T		No	ClinGen ExAC TOPMed gnomAD
rs758075481 CA5110836	1315	R>C		No	ClinGen ExAC TOPMed gnomAD
rs368364961 CA195572387	1315	R>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA TOPMed gnomAD
rs368364961 CA373961149	1315	R>L		No	ClinGen ESP TOPMed gnomAD
CA373961190 rs1266162109	1319	P>S		No	ClinGen TOPMed
rs1266162109 CA373961187	1319	P>T		No	ClinGen TOPMed
CA5110838 rs757390169	1320	P>S		No	ClinGen ExAC TOPMed gnomAD
CA5110841 rs747838735	1321	D>N		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1322	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1230357688 CA373961230	1322	P>T		No	ClinGen TOPMed gnomAD
rs778168085 CA5110843	1323	L>M		No	ClinGen ExAC gnomAD
CA195572446 rs978897932	1323	L>R		No	ClinGen TOPMed
rs1223447575 CA373961255	1324	G>E		No	ClinGen TOPMed
rs771132585 CA5110845	1324	G>R		No	ClinGen ExAC gnomAD
CA5110846 rs774950636	1332	M>V		No	ClinGen ExAC gnomAD
rs1010855271 CA195572467	1333	N>S		No	ClinGen TOPMed
CA195572472 rs879749139	1334	L>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs761039661 CA5110850	1340	V>M		No	ClinGen ExAC TOPMed gnomAD
CA5110852 rs754050422	1341	A>E		No	ClinGen ExAC gnomAD
rs764428036 CA5110851	1341	A>T		No	ClinGen ExAC gnomAD
CA5110854 rs200345598	1344	N>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM4164073 CA5110855 VAR_040434 rs1056719 COSM4164075	1346	S>N	thyroid [Cosmic]	No	ClinGen cosmic curated UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs754841061 CA373961534	1346	S>R		No	ClinGen ExAC gnomAD
CA373961531 rs1056719	1346	S>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA195572509 rs55790757	1347	N>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5110860 rs200514264	1348	G>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5110858 rs752189988	1348	G>R		No	ClinGen ExAC TOPMed gnomAD
RCV000915764 rs200514264 CA5110859	1348	G>V		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
COSM6184491 COSM6184490 COSM6184489	1348	G>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs748849831 CA5110861	1351	K>R		No	ClinGen ExAC TOPMed gnomAD
CA373961607 rs1203419578	1352	D>V		No	ClinGen gnomAD
rs771346072 CA5110862	1353	F>L		No	ClinGen ExAC gnomAD
CA373961639 rs1234077570	1355	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1259184429 CA373961659	1356	S>R		No	ClinGen TOPMed gnomAD
rs746422468 CA5110864	1357	P>R		No	ClinGen ExAC TOPMed gnomAD
rs1488556225 CA373961676	1359	H>R		No	ClinGen gnomAD
rs747094261 CA5110867	1360	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA373961695 rs780410982	1363	R>G		No	ClinGen ExAC TOPMed gnomAD
rs761921766 CA5110870	1363	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA5110869 rs780410982	1363	R>W		No	ClinGen ExAC TOPMed gnomAD
rs539537081 CA5110871	1366	T>N		No	ClinGen ExAC TOPMed gnomAD
rs1354151908 CA373961721	1367	T>A		No	ClinGen gnomAD
rs1458507921 CA373961730	1368	Y>C		No	ClinGen gnomAD
CA373961736 rs1295336064	1369	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs369644964 CA5110877	1377	M>I		No	ClinGen ESP ExAC gnomAD
CA5110876 rs755650733	1377	M>T		No	ClinGen ExAC TOPMed gnomAD
rs752562116 CA5110875	1377	M>V		No	ClinGen ExAC TOPMed gnomAD
CA5110878 rs753574172	1379	K>I		No	ClinGen ExAC gnomAD
CA5110879 rs756825105 CA5110880	1382	E>D		No	ClinGen ExAC TOPMed gnomAD
CA5110881 rs746235419	1385	R>C		No	ClinGen ExAC TOPMed gnomAD
CA5110882 rs758773671	1386	R>Q		No	ClinGen ExAC
CA373961908 rs1403884716	1386	R>W		No	ClinGen TOPMed
TCGA novel	1388	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
CA195572612 rs868855248	1389	A>T		No	ClinGen gnomAD
CA195572624 rs1064221	1391	F>L		No	ClinGen Ensembl
COSM456202 COSM5219254 COSM456203	1392	L>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
CA5110887 rs776544631	1395	A>S		No	ClinGen ExAC
CA5110888 rs748470272	1396	S>A		No	ClinGen ExAC gnomAD
CA5110889 rs769895170	1398	V>A		No	ClinGen ExAC gnomAD
rs773425467 CA5110890	1400	K>R		No	ClinGen ExAC TOPMed gnomAD
CA373962154 rs1564082265	1405	G>S		No	ClinGen Ensembl
CA5110892 VAR_040435 rs36220450 RCV000965111	1405	G>V		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA5110893 rs775426815	1406	N>H		No	ClinGen ExAC gnomAD
CA373962170 rs1414183207	1406	N>S		No	ClinGen TOPMed gnomAD
COSM3908704 COSM3908705 COSM3908703	1407	G>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
CA373962191 rs1564082287	1408	Q>*		No	ClinGen Ensembl
CA195572662 rs889544516 COSM198035 COSM198036 CA195572667	1409	E>D	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA373962213 rs1433401275	1411	Y>C		No	ClinGen gnomAD
rs533896077 CA5110894	1412	A>P		No	ClinGen 1000Genomes ExAC gnomAD
COSM1110877 rs763698491 COSM5784831 CA5110896 COSM1110875	1413	S>L	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs763698491 CA5110895	1413	S>W		No	ClinGen ExAC TOPMed gnomAD
rs1309966230 CA373962239	1415	C>Y		No	ClinGen gnomAD
rs1333456652 CA373962256	1417	S>R		No	ClinGen TOPMed gnomAD
COSM1202999 rs758859409 CA5110900 COSM1202998	1418	G>S	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1269979523 CA373962262	1418	G>V		No	ClinGen gnomAD
rs780546952 CA5110901	1420	S>F		No	ClinGen ExAC gnomAD
CA373962375 rs1183758211	1427	V>A		No	ClinGen gnomAD
rs1217987031 CA373962377	1428	V>I		No	ClinGen TOPMed
rs755538380 CA5110903	1429	S>C		No	ClinGen ExAC
CA195572699 rs948225567	1430	R>Q		No	ClinGen TOPMed
CA5110904 rs781391671	1430	R>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA5110905 rs748189420	1431	R>R		No	ClinGen ExAC gnomAD

No associated diseases with P53355

6 regional properties for P53355

Type	Name	Position	InterPro Accession
domain	CRIB domain	73 - 130	IPR000095
domain	Protein kinase domain	249 - 500	IPR000719
active_site	Serine/threonine-protein kinase, active site	364 - 376	IPR008271
binding_site	Protein kinase, ATP binding site	255 - 278	IPR017441
domain	p21 activated kinase binding domain	72 - 117	IPR033923
domain	p21-activated kinase 2, catalytic domain	229 - 524	IPR035064

Functions

		Description
EC Number	2.7.11.1	Protein-serine/threonine kinases
Subcellular Localization	[Isoform 1]: Cytoplasm Cytoplasm, cytoskeleton	Colocalizes with MAP1B in the microtubules and cortical actin fibers
PANTHER Family	PTHR24342	SERINE/THREONINE-PROTEIN KINASE 17
PANTHER Subfamily	PTHR24342:SF17	DEATH-ASSOCIATED PROTEIN KINASE 1
PANTHER Protein Class	non-receptor serine/threonine protein kinase protein modifying enzyme
PANTHER Pathway Category	No pathway information available

7 GO annotations of cellular component

Name	Definition
actin cytoskeleton	The part of the cytoskeleton (the internal framework of a cell) composed of actin and associated proteins. Includes actin cytoskeleton-associated complexes.
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
DAPK1-calmodulin complex	A serine/threonine protein kinase complex involved in cell survival, apoptosis and autophagic cell death pathways. DAPK1 is activated by the dephosphorylation of a n-terminal serine and calcium-calmodulin binding.
glutamatergic synapse	A synapse that uses glutamate as a neurotransmitter.
nucleus	A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
postsynaptic density	An electron dense network of proteins within and adjacent to the postsynaptic membrane of an asymmetric, neuron-neuron synapse. Its major components include neurotransmitter receptors and the proteins that spatially and functionally organize them such as anchoring and scaffolding molecules, signaling enzymes and cytoskeletal components.

9 GO annotations of molecular function

Name	Definition
ATP binding	Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
calmodulin binding	Binding to calmodulin, a calcium-binding protein with many roles, both in the calcium-bound and calcium-free states.
calmodulin-dependent protein kinase activity	Calmodulin-dependent catalysis of the reactions
GTP binding	Binding to GTP, guanosine triphosphate.
identical protein binding	Binding to an identical protein or proteins.
protein kinase activity	Catalysis of the phosphorylation of an amino acid residue in a protein, usually according to the reaction
protein serine kinase activity	Catalysis of the reactions
protein serine/threonine kinase activity	Catalysis of the reactions
syntaxin-1 binding	Binding to a syntaxin-1 SNAP receptor.

19 GO annotations of biological process

Name	Definition
apoptotic process	A programmed cell death process which begins when a cell receives an internal (e.g. DNA damage) or external signal (e.g. an extracellular death ligand), and proceeds through a series of biochemical events (signaling pathway phase) which trigger an execution phase. The execution phase is the last step of an apoptotic process, and is typically characterized by rounding-up of the cell, retraction of pseudopodes, reduction of cellular volume (pyknosis), chromatin condensation, nuclear fragmentation (karyorrhexis), plasma membrane blebbing and fragmentation of the cell into apoptotic bodies. When the execution phase is completed, the cell has died.
apoptotic signaling pathway	The series of molecular signals which triggers the apoptotic death of a cell. The pathway starts with reception of a signal, and ends when the execution phase of apoptosis is triggered.
cellular response to hydroperoxide	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a hydroperoxide stimulus. Hydroperoxides are monosubstitution products of hydrogen peroxide, HOOH.
cellular response to type II interferon	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an interferon-gamma stimulus. Interferon gamma is the only member of the type II interferon found so far.
defense response to tumor cell	Reactions triggered in response to the presence of a tumor cell that act to protect the cell or organism.
extrinsic apoptotic signaling pathway via death domain receptors	The series of molecular signals in which a signal is conveyed from the cell surface to trigger the apoptotic death of a cell. The pathway starts with a ligand binding to a death domain receptor on the cell surface, and ends when the execution phase of apoptosis is triggered.
intracellular signal transduction	The process in which a signal is passed on to downstream components within the cell, which become activated themselves to further propagate the signal and finally trigger a change in the function or state of the cell.
negative regulation of apoptotic process	Any process that stops, prevents, or reduces the frequency, rate or extent of cell death by apoptotic process.
negative regulation of translation	Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of proteins by the translation of mRNA or circRNA.
positive regulation of apoptotic process	Any process that activates or increases the frequency, rate or extent of cell death by apoptotic process.
positive regulation of autophagic cell death	Any process that activates or increases the frequency, rate or extent of autophagic cell death.
positive regulation of autophagy	Any process that activates, maintains or increases the rate of autophagy. Autophagy is the process in which cells digest parts of their own cytoplasm.
positive regulation of cysteine-type endopeptidase activity involved in apoptotic process	Any process that activates or increases the activity of a cysteine-type endopeptidase involved in the apoptotic process.
protein autophosphorylation	The phosphorylation by a protein of one or more of its own amino acid residues (cis-autophosphorylation), or residues on an identical protein (trans-autophosphorylation).
protein phosphorylation	The process of introducing a phosphate group on to a protein.
regulation of apoptotic process	Any process that modulates the occurrence or rate of cell death by apoptotic process.
regulation of autophagy	Any process that modulates the frequency, rate or extent of autophagy. Autophagy is the process in which cells digest parts of their own cytoplasm.
regulation of NMDA receptor activity	Any process that modulates the frequency, rate or extent of N-methyl-D-aspartate selective glutamate receptor activity.
regulation of response to tumor cell	Any process that modulates the frequency, rate, or extent of a response to tumor cell.

99 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
A4IFM7	MYLK2	Myosin light chain kinase 2, skeletal/cardiac muscle	Bos taurus (Bovine)	SS
Q0V7M1	PSKH1	Serine/threonine-protein kinase H1	Bos taurus (Bovine)	SS
Q0VD22	STK33	Serine/threonine-protein kinase 33	Bos taurus (Bovine)	PR
Q96NX5	CAMK1G	Calcium/calmodulin-dependent protein kinase type 1G	Homo sapiens (Human)	SS
O15075	DCLK1	Serine/threonine-protein kinase DCLK1	Homo sapiens (Human)	EV
Q14012	CAMK1	Calcium/calmodulin-dependent protein kinase type 1	Homo sapiens (Human)	EV
Q86YV6	MYLK4	Myosin light chain kinase family member 4	Homo sapiens (Human)	SS
Q16566	CAMK4	Calcium/calmodulin-dependent protein kinase type IV	Homo sapiens (Human)	SS
P11801	PSKH1	Serine/threonine-protein kinase H1	Homo sapiens (Human)	SS
Q8N568	DCLK2	Serine/threonine-protein kinase DCLK2	Homo sapiens (Human)	PR
O75962	TRIO	Triple functional domain protein	Homo sapiens (Human)	EV
Q9H1R3	MYLK2	Myosin light chain kinase 2, skeletal/cardiac muscle	Homo sapiens (Human)	EV
Q32MK0	MYLK3	Myosin light chain kinase 3	Homo sapiens (Human)	SS
Q8WWF8	CAPSL	Calcyphosin-like protein	Homo sapiens (Human)	PR
Q6P2M8	PNCK	Calcium/calmodulin-dependent protein kinase type 1B	Homo sapiens (Human)	SS
Q9BYT3	STK33	Serine/threonine-protein kinase 33	Homo sapiens (Human)	PR
Q8NCB2	CAMKV	CaM kinase-like vesicle-associated protein	Homo sapiens (Human)	SS
Q8IU85	CAMK1D	Calcium/calmodulin-dependent protein kinase type 1D	Homo sapiens (Human)	SS
O43293	DAPK3	Death-associated protein kinase 3	Homo sapiens (Human)	PR
Q9UIK4	DAPK2	Death-associated protein kinase 2	Homo sapiens (Human)	EV
O94768	STK17B	Serine/threonine-protein kinase 17B	Homo sapiens (Human)	PR
Q9UEE5	STK17A	Serine/threonine-protein kinase 17A	Homo sapiens (Human)	SS
Q9QYK9	Pnck	Calcium/calmodulin-dependent protein kinase type 1B	Mus musculus (Mouse)	PR
Q91VB2	Camk1g	Calcium/calmodulin-dependent protein kinase type 1G	Mus musculus (Mouse)	SS
Q8BG48	Stk17b	Serine/threonine-protein kinase 17B	Mus musculus (Mouse)	PR
Q8VCR8	Mylk2	Myosin light chain kinase 2, skeletal/cardiac muscle	Mus musculus (Mouse)	SS
Q6PGN3	Dclk2	Serine/threonine-protein kinase DCLK2	Mus musculus (Mouse)	PR
Q91YS8	Camk1	Calcium/calmodulin-dependent protein kinase type 1	Mus musculus (Mouse)	SS
Q3UIZ8	Mylk3	Myosin light chain kinase 3	Mus musculus (Mouse)	SS
Q8VDF3	Dapk2	Death-associated protein kinase 2	Mus musculus (Mouse)	EV
Q6P8Y1	Capsl	Calcyphosin-like protein	Mus musculus (Mouse)	PR
Q8BW96	Camk1d	Calcium/calmodulin-dependent protein kinase type 1D	Mus musculus (Mouse)	SS
Q3UHL1	Camkv	CaM kinase-like vesicle-associated protein	Mus musculus (Mouse)	SS
P08414	Camk4	Calcium/calmodulin-dependent protein kinase type IV	Mus musculus (Mouse)	SS
Q9JLM8	Dclk1	Serine/threonine-protein kinase DCLK1	Mus musculus (Mouse)	SS
Q91YA2	Pskh1	Serine/threonine-protein kinase H1	Mus musculus (Mouse)	SS
Q62407	Speg	Striated muscle-specific serine/threonine-protein kinase	Mus musculus (Mouse)	SS
Q0KL02	Trio	Triple functional domain protein	Mus musculus (Mouse)	SS
Q924X7	Stk33	Serine/threonine-protein kinase 33	Mus musculus (Mouse)	PR
O54784	Dapk3	Death-associated protein kinase 3	Mus musculus (Mouse)	PR
Q80YE7	Dapk1	Death-associated protein kinase 1	Mus musculus (Mouse)	SS
Q7TNJ7	Camk1g	Calcium/calmodulin-dependent protein kinase type 1G	Rattus norvegicus (Rat)	SS
P20689	Mylk2	Myosin light chain kinase 2, skeletal/cardiac muscle	Rattus norvegicus (Rat)	SS
F1M0Z1	Trio	Triple functional domain protein	Rattus norvegicus (Rat)	SS
Q91XS8	Stk17b	Serine/threonine-protein kinase 17B	Rattus norvegicus (Rat)	PR
O08875	Dclk1	Serine/threonine-protein kinase DCLK1	Rattus norvegicus (Rat)	PR
E9PT87	Mylk3	Myosin light chain kinase 3	Rattus norvegicus (Rat)	SS
O70150	Pnck	Calcium/calmodulin-dependent protein kinase type 1B	Rattus norvegicus (Rat)	PR
Q63092	Camkv	CaM kinase-like vesicle-associated protein	Rattus norvegicus (Rat)	SS
Q63638	Speg	Striated muscle-specific serine/threonine-protein kinase	Rattus norvegicus (Rat)	SS
O88764	Dapk3	Death-associated protein kinase 3	Rattus norvegicus (Rat)	PR
P13234	Camk4	Calcium/calmodulin-dependent protein kinase type IV	Rattus norvegicus (Rat)	SS
Q63450	Camk1	Calcium/calmodulin-dependent protein kinase type 1	Rattus norvegicus (Rat)	EV
P97924	Kalrn	Kalirin	Rattus norvegicus (Rat)	SS
Q5MPA9	Dclk2	Serine/threonine-protein kinase DCLK2	Rattus norvegicus (Rat)	PR
Q5VQQ5	CPK2	Calcium-dependent protein kinase 2	Oryza sativa subsp. japonica (Rice)	SS
Q8LPZ7	CPK3	Calcium-dependent protein kinase 3	Oryza sativa subsp. japonica (Rice)	SS
Q6K968	CPK6	Calcium-dependent protein kinase 6	Oryza sativa subsp. japonica (Rice)	SS
P53684	CPK7	Calcium-dependent protein kinase 7	Oryza sativa subsp japonica (Rice)	PR
Q75GE8	CPK8	Calcium-dependent protein kinase 8	Oryza sativa subsp. japonica (Rice)	SS
Q6I5I8	CPK16	Calcium-dependent protein kinase 16	Oryza sativa subsp. japonica (Rice)	SS
Q6AVM3	CCAMK	Calcium and calcium/calmodulin-dependent serine/threonine-protein kinase	Oryza sativa subsp japonica (Rice)	PR
Q84SL0	CPK20	Calcium-dependent protein kinase 20	Oryza sativa subsp. japonica (Rice)	SS
P53682	CPK23	Calcium-dependent protein kinase 23	Oryza sativa subsp japonica (Rice)	PR
Q9TXJ0	cmk-1	Calcium/calmodulin-dependent protein kinase type 1	Caenorhabditis elegans	PR
Q95QC4	zyg-8	Serine/threonine-protein kinase zyg-8	Caenorhabditis elegans	PR
O44997	dapk-1	Death-associated protein kinase dapk-1	Caenorhabditis elegans	SS
P28583		Calcium-dependent protein kinase SK5	Glycine max (Soybean) (Glycine hispida)	PR
Q9M9V8	CPK10	Calcium-dependent protein kinase 10	Arabidopsis thaliana (Mouse-ear cress)	PR
Q39016	CPK11	Calcium-dependent protein kinase 11	Arabidopsis thaliana (Mouse-ear cress)	SS
Q9FX86	CRK8	CDPK-related kinase 8	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9SSF8	CPK30	Calcium-dependent protein kinase 30	Arabidopsis thaliana (Mouse-ear cress)	PR
Q38872	CPK6	Calcium-dependent protein kinase 6	Arabidopsis thaliana (Mouse-ear cress)	PR
Q7XJR9	CPK16	Calcium-dependent protein kinase 16	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9SIQ7	CPK24	Calcium-dependent protein kinase 24	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9SJ61	CPK25	Calcium-dependent protein kinase 25	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9ZV15	CPK20	Calcium-dependent protein kinase 20	Arabidopsis thaliana (Mouse-ear cress)	PR
P93759	GK-1	Calcium-dependent protein kinase 14	Arabidopsis thaliana (Mouse-ear cress)	PR
Q8S8S2	LPEAT2	Lysophospholipid acyltransferase LPEAT2	Arabidopsis thaliana (Mouse-ear cress)	PR
Q38870	CPK2	Calcium-dependent protein kinase 2	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9LJL9	CRK2	CDPK-related kinase 2	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9SG12	CRK6	CDPK-related kinase 6	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9SCS2	CRK5	CDPK-related kinase 5	Arabidopsis thaliana (Mouse-ear cress)	PR
Q8W4I7	CPK13	Calcium-dependent protein kinase 13	Arabidopsis thaliana (Mouse-ear cress)	PR
Q6NLQ6	CPK32	Calcium-dependent protein kinase 32	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9ZSA4	CPK27	Calcium-dependent protein kinase 27	Arabidopsis thaliana (Mouse-ear cress)	PR
Q38869	CPK4	Calcium-dependent protein kinase 4	Arabidopsis thaliana (Mouse-ear cress)	SS
Q42479	CPK3	Calcium-dependent protein kinase 3	Arabidopsis thaliana (Mouse-ear cress)	PR
Q1PE17	CPK18	Calcium-dependent protein kinase 18	Arabidopsis thaliana (Mouse-ear cress)	SS
Q06850	CPK1	Calcium-dependent protein kinase 1	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9FMP5	CPK17	Calcium-dependent protein kinase 17	Arabidopsis thaliana (Mouse-ear cress)	PR
Q38873	CPK7	Calcium-dependent protein kinase 7	Arabidopsis thaliana (Mouse-ear cress)	PR
Q3E9C0	CPK34	Calcium-dependent protein kinase 34	Arabidopsis thaliana (Mouse-ear cress)	PR
Q42438	CPK8	Calcium-dependent protein kinase 8	Arabidopsis thaliana (Mouse-ear cress)	PR
Q42396	CPK12	Calcium-dependent protein kinase 12	Arabidopsis thaliana (Mouse-ear cress)	SS
Q9FKW4	CPK28	Calcium-dependent protein kinase 28	Arabidopsis thaliana (Mouse-ear cress)	SS
Q1LUA6	trio	Triple functional domain protein	Danio rerio (Zebrafish) (Brachydanio rerio)	SS
A8C984	mylk3	Myosin light chain kinase 3	Danio rerio (Zebrafish) (Brachydanio rerio)	SS
Q7SY49	camkv	CaM kinase-like vesicle-associated protein	Danio rerio (Zebrafish) (Brachydanio rerio)	SS

10	20	30	40	50	60
MTVFRQENVD	DYYDTGEELG	SGQFAVVKKC	REKSTGLQYA	AKFIKKRRTK	SSRRGVSRED
70	80	90	100	110	120
IEREVSILKE	IQHPNVITLH	EVYENKTDVI	LILELVAGGE	LFDFLAEKES	LTEEEATEFL
130	140	150	160	170	180
KQILNGVYYL	HSLQIAHFDL	KPENIMLLDR	NVPKPRIKII	DFGLAHKIDF	GNEFKNIFGT
190	200	210	220	230	240
PEFVAPEIVN	YEPLGLEADM	WSIGVITYIL	LSGASPFLGD	TKQETLANVS	AVNYEFEDEY
250	260	270	280	290	300
FSNTSALAKD	FIRRLLVKDP	KKRMTIQDSL	QHPWIKPKDT	QQALSRKASA	VNMEKFKKFA
310	320	330	340	350	360
ARKKWKQSVR	LISLCQRLSR	SFLSRSNMSV	ARSDDTLDEE	DSFVMKAIIH	AINDDNVPGL
370	380	390	400	410	420
QHLLGSLSNY	DVNQPNKHGT	PPLLIAAGCG	NIQILQLLIK	RGSRIDVQDK	GGSNAVYWAA
430	440	450	460	470	480
RHGHVDTLKF	LSENKCPLDV	KDKSGEMALH	VAARYGHADV	AQLLCSFGSN	PNIQDKEEET
490	500	510	520	530	540
PLHCAAWHGY	YSVAKALCEA	GCNVNIKNRE	GETPLLTASA	RGYHDIVECL	AEHGADLNAC
550	560	570	580	590	600
DKDGHIALHL	AVRRCQMEVI	KTLLSQGCFV	DYQDRHGNTP	LHVACKDGNM	PIVVALCEAN
610	620	630	640	650	660
CNLDISNKYG	RTPLHLAANN	GILDVVRYLC	LMGASVEALT	TDGKTAEDLA	RSEQHEHVAG
670	680	690	700	710	720
LLARLRKDTH	RGLFIQQLRP	TQNLQPRIKL	KLFGHSGSGK	TTLVESLKCG	LLRSFFRRRR
730	740	750	760	770	780
PRLSSTNSSR	FPPSPLASKP	TVSVSINNLY	PGCENVSVRS	RSMMFEPGLT	KGMLEVFVAP
790	800	810	820	830	840
THHPHCSADD	QSTKAIDIQN	AYLNGVGDFS	VWEFSGNPVY	FCCYDYFAAN	DPTSIHVVVF
850	860	870	880	890	900
SLEEPYEIQL	NQVIFWLSFL	KSLVPVEEPI	AFGGKLKNPL	QVVLVATHAD	IMNVPRPAGG
910	920	930	940	950	960
EFGYDKDTSL	LKEIRNRFGN	DLHISNKLFV	LDAGASGSKD	MKVLRNHLQE	IRSQIVSVCP
970	980	990	1000	1010	1020
PMTHLCEKII	STLPSWRKLN	GPNQLMSLQQ	FVYDVQDQLN	PLASEEDLRR	IAQQLHSTGE
1030	1040	1050	1060	1070	1080
INIMQSETVQ	DVLLLDPRWL	CTNVLGKLLS	VETPRALHHY	RGRYTVEDIQ	RLVPDSDVEE
1090	1100	1110	1120	1130	1140
LLQILDAMDI	CARDLSSGTM	VDVPALIKTD	NLHRSWADEE	DEVMVYGGVR	IVPVEHLTPF
1150	1160	1170	1180	1190	1200
PCGIFHKVQV	NLCRWIHQQS	TEGDADIRLW	VNGCKLANRG	AELLVLLVNH	GQGIEVQVRG
1210	1220	1230	1240	1250	1260
LETEKIKCCL	LLDSVCSTIE	NVMATTLPGL	LTVKHYLSPQ	QLREHHEPVM	IYQPRDFFRA
1270	1280	1290	1300	1310	1320
QTLKETSLTN	TMGGYKESFS	SIMCFGCHDV	YSQASLGMDI	HASDLNLLTR	RKLSRLLDPP
1330	1340	1350	1360	1370	1380
DPLGKDWCLL	AMNLGLPDLV	AKYNTSNGAP	KDFLPSPLHA	LLREWTTYPE	STVGTLMSKL
1390	1400	1410	1420
RELGRRDAAD	FLLKASSVFK	INLDGNGQEA	YASSCNSGTS	YNSISSVVSR