AiPD: Autoinhibited Protein Database

O00443

Gene name	PIK3C2A
Protein name	Phosphatidylinositol 4-phosphate 3-kinase C2 domain-containing subunit alpha
Names	PI3K-C2-alpha, PtdIns-3-kinase C2 subunit alpha, Phosphoinositide 3-kinase-C2-alpha
Species	Homo sapiens (Human)
KEGG Pathway	hsa:5286
EC number	2.7.1.137: Phosphotransferases with an alcohol group as acceptor
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-152 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-152 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

1268-1292 (Activation loop from InterPro)

Target domain	1043-1395 (Catalytic domain of Class II Phosphoinositide 3-kinase alpha)
Relief mechanism
Assay

References

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

Autoinhibited structure

Activated structure

9 structures for O00443

Entry ID	Method	Resolution	Chain	Position	Source
2AR5	X-ray	180 A	A	1421-1532	PDB
2IWL	X-ray	260 A	X	1405-1544	PDB
2REA	X-ray	250 A	A	1421-1532	PDB
2RED	X-ray	210 A	A	1421-1532	PDB
6BTY	X-ray	168 A	A/B	1559-1686	PDB
6BTZ	X-ray	185 A	A/B/C/D	1559-1686	PDB
6BU0	X-ray	243 A	A/B/C	1559-1686	PDB
6BUB	X-ray	260 A	A	1405-1544	PDB
AF-O00443-F1	Predicted				AlphaFoldDB

1180 variants for O00443

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA379775452 RCV000778122 rs1565287817	195	Y>*	OCULOSKELETODENTAL SYNDROME [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
VAR_082616	195	Y>del	OCSKD; no protein detected by Wester blot in patient cells [UniProt]	Yes	UniProt
CA379779337 rs1172539407	2	A>T		No	ClinGen gnomAD
rs1450027719 CA379779290	3	Q>H		No	ClinGen TOPMed
CA379779300 rs1466615813	3	Q>R		No	ClinGen gnomAD
CA5901643 rs764095115	5	S>P		No	ClinGen ExAC gnomAD
rs1182114321 CA379779149	9	G>A		No	ClinGen gnomAD
CA5901640 CA218427195 rs772530586	9	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1279571419 CA379779140	10	F>L		No	ClinGen TOPMed
CA5901638 rs774129341	11	K>R		No	ClinGen ExAC TOPMed gnomAD
CA5901637 rs770679693	13	C>R		No	ClinGen ExAC TOPMed gnomAD
CA379779032 rs1317995120	13	C>Y		No	ClinGen gnomAD
TCGA novel	14	P>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA218427154 rs866005439	16	S>L		No	ClinGen Ensembl
CA5901635 rs777292423	16	S>P		No	ClinGen ExAC gnomAD
CA379778920 rs1395676889	18	P>L		No	ClinGen TOPMed gnomAD
rs748049814 CA5901633	19	E>K		No	ClinGen ExAC gnomAD
CA218427111 rs942258354	21	T>A		No	ClinGen TOPMed gnomAD
CA379778880 rs942258354	21	T>S		No	ClinGen TOPMed gnomAD
CA5901632 rs141017898	22	R>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs368878866 CA218427098	26	V>L		No	ClinGen ESP TOPMed gnomAD
CA5901630 rs142132566	28	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs984671252 CA218427069	28	K>N		No	ClinGen TOPMed
CA218427071 rs918004109	28	K>R		No	ClinGen TOPMed
rs779719401 CA5901629	29	E>Q		No	ClinGen ExAC gnomAD
rs148632636 CA5901628	30	E>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA379778761 rs1565288602	31	A>P		No	ClinGen Ensembl
CA379778757 rs1411266460	31	A>V		No	ClinGen gnomAD
rs202010601 CA218427056	32	L>S		No	ClinGen 1000Genomes
CA218427054 rs951905468	33	Q>R		No	ClinGen TOPMed gnomAD
rs374487181 CA5901627	36	A>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5901626 rs764191526	38	A>S		No	ClinGen ExAC gnomAD
CA5901625 rs557481790	39	L>S		No	ClinGen 1000Genomes ExAC gnomAD
rs1243868847 CA379778643	41	K>E		No	ClinGen gnomAD
CA5901621 rs759971851	43	Q>L		No	ClinGen ExAC gnomAD
rs1241122760 CA379778607	44	K>R		No	ClinGen gnomAD
CA379778600 rs1307088696	45	D>N		No	ClinGen gnomAD
CA5901620 rs774802284	46	R>G		No	ClinGen ExAC gnomAD
CA218427014 rs907305341	47	Q>E		No	ClinGen TOPMed
CA218427000 rs865825726	48	V>A		No	ClinGen gnomAD
rs865825726 CA379778554	48	V>G		No	ClinGen gnomAD
CA5901618 rs762628419	51	N>D		No	ClinGen ExAC gnomAD
rs772783249 CA5901617	51	N>S		No	ClinGen ExAC gnomAD
rs200307463 CA5901616	52	Q>E		No	ClinGen ExAC TOPMed gnomAD
rs200307463 CA379778515	52	Q>K		No	ClinGen ExAC TOPMed gnomAD
rs747716277 CA5901615	54	G>V		No	ClinGen ExAC
rs1379162024 CA379778449	57	L>F		No	ClinGen gnomAD
CA5901614 rs145953764	58	S>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs145953764 CA218426945	58	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA218426929 rs544443756	59	S>G		No	ClinGen 1000Genomes
rs1434383407 CA379778434	59	S>N		No	ClinGen gnomAD
rs768515208 CA5901613	60	S>T		No	ClinGen ExAC TOPMed gnomAD
rs779849790 CA5901611	65	A>G		No	ClinGen ExAC TOPMed gnomAD
CA5901612 rs746961822	65	A>T		No	ClinGen ExAC TOPMed gnomAD
CA5901610 rs576938617	67	V>A		No	ClinGen 1000Genomes ExAC gnomAD
rs754057932 CA5901609	69	N>K		No	ClinGen ExAC gnomAD
CA5901608 rs777902572	71	Q>*		No	ClinGen ExAC gnomAD
rs1285779398 CA379778268	72	D>E		No	ClinGen TOPMed
CA218426833 rs1054749014	72	D>V		No	ClinGen Ensembl
CA5901607 rs143984507	73	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs745673763 CA5901606	76	M>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	76	M>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs372183891 CA5901605	78	F>L		No	ClinGen ESP ExAC
rs1451482165 CA379778188	79	P>A		No	ClinGen TOPMed
CA379778185 rs1385545699	79	P>H		No	ClinGen TOPMed gnomAD
CA5901603 rs752147607	82	D>H		No	ClinGen ExAC TOPMed gnomAD
CA5901602 rs766737283	83	S>C		No	ClinGen ExAC gnomAD
CA5901601 rs368452358	85	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1565288355	86	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1387047279 CA379778104	87	A>T		No	ClinGen gnomAD
COSM1703637 CA379778097 rs1356893392	87	A>V	skin [Cosmic]	No	ClinGen cosmic curated Ensembl
CA379778075 rs761460409	89	D>A		No	ClinGen ExAC gnomAD
rs761460409 CA5901598	89	D>V		No	ClinGen ExAC gnomAD
TCGA novel	89	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1377680619 CA379778060	90	I>T		No	ClinGen gnomAD
CA218426697 rs865966494	92	V>A		No	ClinGen Ensembl
CA379777983 rs1202372347	97	Q>E		No	ClinGen TOPMed gnomAD
rs943079581 CA218426660	97	Q>R		No	ClinGen Ensembl
rs775327694 CA5901593	98	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1255447425 CA379777926	100	L>P		No	ClinGen gnomAD
CA218426631 rs941680534	101	E>Q		No	ClinGen TOPMed gnomAD
CA379777892 rs1565288267	103	L>V		No	ClinGen Ensembl
CA218426620 rs753335948	107	D>V		No	ClinGen Ensembl
rs150557718 CA379777777	109	F>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs778050457 CA5901590	111	T>S		No	ClinGen ExAC gnomAD
COSM3666883 rs748406705 CA5901588	112	K>E	liver [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA218426578 rs1026628913	114	T>I		No	ClinGen TOPMed
CA379777671 rs1026628913	114	T>K		No	ClinGen TOPMed
CA218426579 rs951977031	114	T>S		No	ClinGen Ensembl
CA218426575 rs141905266	115	P>L		No	ClinGen ESP gnomAD
CA5901585 rs755151271	121	P>A		No	ClinGen ExAC gnomAD
TCGA novel	121	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	121	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5901584 rs752087241	122	I>V		No	ClinGen ExAC gnomAD
rs766854279 CA379777474	123	L>P		No	ClinGen ExAC TOPMed gnomAD
CA5901583 rs766854279	123	L>R		No	ClinGen ExAC TOPMed gnomAD
rs370462630 CA5901582	124	S>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs1189916272 CA379777442	124	S>R		No	ClinGen gnomAD
CA5901581 rs185461054	126	S>A		No	ClinGen 1000Genomes ExAC gnomAD
CA379777386 rs1239076469	126	S>Y		No	ClinGen TOPMed
CA379777365 rs1255577209	127	F>S		No	ClinGen gnomAD
CA379777349 rs1590988702	128	S>A		No	ClinGen Ensembl
CA379777336 rs1441711542	129	A>T		No	ClinGen TOPMed
CA379777291 rs1198860604	131	L>P		No	ClinGen gnomAD
rs61755370 CA5901580	133	F>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5901579 rs761405315	135	P>L		No	ClinGen ExAC gnomAD
CA5901578 rs776296411	136	T>A		No	ClinGen ExAC gnomAD
CA5901577 rs147046712	136	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs147046712 CA379777215	136	T>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs1286285140 CA379777202	137	I>V		No	ClinGen gnomAD
rs1163821377 CA379777086	140	G>E		No	ClinGen TOPMed
rs1333084825 CA379777069	141	Q>R		No	ClinGen gnomAD
rs775482241 CA5901574	142	W>*		No	ClinGen ExAC gnomAD
TCGA novel	145	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5901573 rs550256113	145	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs773956432 CA5901571	147	P>T		No	ClinGen ExAC gnomAD
CA5901570 rs770884480	148	G>R		No	ClinGen ExAC TOPMed
CA379776821 rs376379926	151	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs1024429005 CA218426385	151	T>I		No	ClinGen Ensembl
CA5901569 rs376379926	151	T>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1228094363 CA379776781	153	A>S		No	ClinGen TOPMed gnomAD
rs1340302513 CA379776765	154	L>S		No	ClinGen TOPMed
rs868401207 CA218426377	156	S>F		No	ClinGen Ensembl
rs192377879 CA5901568	157	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5901567 rs755099949	159	P>L		No	ClinGen ExAC TOPMed gnomAD
rs747126345 CA5901566	160	S>F		No	ClinGen ExAC gnomAD
CA5901565 rs755691207	161	T>A		No	ClinGen ExAC TOPMed gnomAD
rs200262506 CA379776613	162	Y>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs1258713442 CA379776627	162	Y>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA218426330 rs17847727	163	S>R		No	ClinGen Ensembl
rs1210878105 CA379776553	164	K>E		No	ClinGen gnomAD
rs894501590 CA218426329	164	K>I		No	ClinGen Ensembl
rs757655887 CA5901560	166	A>P		No	ClinGen ExAC gnomAD
CA5901559 rs753466083	166	A>V		No	ClinGen ExAC TOPMed gnomAD
CA5901558 rs763793270	167	A>P		No	ClinGen ExAC gnomAD
TCGA novel	169	Q>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1309272419 CA379776399	169	Q>P		No	ClinGen TOPMed gnomAD
rs1309272419 CA379776398	169	Q>R		No	ClinGen TOPMed gnomAD
CA5901557 rs760224769	170	N>S		No	ClinGen ExAC gnomAD
CA5901556 rs752076718	171	G>D		No	ClinGen ExAC gnomAD
CA5901555 rs767064373	173	N>S		No	ClinGen ExAC gnomAD
CA5901554 rs759339065	174	P>L		No	ClinGen ExAC gnomAD
rs1187992965 CA379776222	174	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA218426264 rs1032996664	176	M>I		No	ClinGen gnomAD
CA5901553 rs774473141	177	P>L		No	ClinGen ExAC TOPMed gnomAD
CA379776054 rs774473141	177	P>R		No	ClinGen ExAC TOPMed gnomAD
rs370124912 CA5901552	178	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1169378885 CA379776020	179	F>L		No	ClinGen TOPMed
CA5901551 rs376934220	180	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA5901550 rs776989520	182	T>I		No	ClinGen ExAC gnomAD
TCGA novel	183	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1466715006 CA379775875	183	E>A		No	ClinGen TOPMed
CA379775860 rs1300761780	184	P>A		No	ClinGen TOPMed
CA5901549 rs768933796	184	P>R		No	ClinGen ExAC TOPMed gnomAD
CA379775778 rs1463628178	186	Y>C		No	ClinGen TOPMed gnomAD
rs1249005253 CA379775795	186	Y>N		No	ClinGen gnomAD
rs779950556 CA5901547	188	S>G		No	ClinGen ExAC gnomAD
rs772222982 CA5901546	188	S>R		No	ClinGen ExAC gnomAD
CA5901545 rs746327465	190	P>A		No	ClinGen ExAC TOPMed gnomAD
rs201010550 CA5901543	190	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5901544 rs201010550	190	P>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs61755371 CA5901541	191	G>E		No	ClinGen ExAC TOPMed gnomAD
rs1388094717 CA379775622	191	G>R		No	ClinGen TOPMed gnomAD
rs201660387 CA5901539	195	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA379775379 rs1257963465	198	Y>C		No	ClinGen TOPMed
CA379775336 rs1437049622	199	P>L		No	ClinGen TOPMed gnomAD
rs866352466 CA218426187	199	P>S		No	ClinGen Ensembl
rs1300992909 CA379775282	201	T>P		No	ClinGen gnomAD
rs763326486 CA218426154	202	P>L		No	ClinGen Ensembl
rs61747756 CA5901535	204	T>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	207	H>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA379773879 rs1173332801	207	H>R		No	ClinGen TOPMed
CA5901533 rs528788243	208	P>L		No	ClinGen 1000Genomes ExAC gnomAD
CA5901534 rs766494475	208	P>S		No	ClinGen ExAC TOPMed gnomAD
CA379773826 rs1174704900	209	Q>L		No	ClinGen TOPMed
CA5901532 rs773084605	210	G>R		No	ClinGen ExAC gnomAD
CA379773791 rs1358967756	211	S>G		No	ClinGen TOPMed
CA5901528 rs772021666	213	P>L		No	ClinGen ExAC gnomAD
CA379773733 rs772021666	213	P>R		No	ClinGen ExAC gnomAD
rs374593257 CA5901525	214	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA379773708 rs1280082668	214	I>S		No	ClinGen gnomAD
CA5901526 rs139351396	214	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs749804358 CA5901524	215	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs200001304 CA5901523	216	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs1340867774 CA379773666	216	R>H		No	ClinGen gnomAD
CA218426096 rs867705391	217	P>L		No	ClinGen Ensembl
CA218426101 rs1014623571	217	P>S		No	ClinGen TOPMed
rs77673537 CA379773600	220	S>G		No	ClinGen gnomAD
rs77673537 CA218426094	220	S>R		No	ClinGen gnomAD
rs1360970678 CA379773583	220	S>T		No	ClinGen TOPMed gnomAD
rs919190786 CA218426079	221	T>A		No	ClinGen Ensembl
CA379773507 rs1176808122	223	M>V		No	ClinGen gnomAD
rs1413964074 CA379773453	224	A>T		No	ClinGen gnomAD
CA379773443 rs1427897346	224	A>V		No	ClinGen gnomAD
rs1173421148 CA379773419	225	K>N		No	ClinGen gnomAD
rs752272791 CA5901521	228	D>N		No	ClinGen ExAC gnomAD
rs780960665 CA5901520	231	A>T		No	ClinGen ExAC gnomAD
rs1192526126 CA379773254	233	T>A		No	ClinGen gnomAD
CA5901518 rs751047890	235	E>G		No	ClinGen ExAC gnomAD
rs766000905 CA5901517	237	L>F		No	ClinGen ExAC
TCGA novel	237	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1351291216 CA379773150	238	K>I		No	ClinGen TOPMed
TCGA novel	239	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA218426060 rs761954488	243	R>G		No	ClinGen Ensembl
CA5901516 rs758363620	243	R>K		No	ClinGen ExAC TOPMed gnomAD
rs764908695 CA5901514	247	E>*		No	ClinGen ExAC
rs761715014 CA5901513	250	D>H		No	ClinGen ExAC gnomAD
CA5901510 rs373981207	255	N>K		No	ClinGen ESP ExAC gnomAD
rs777050777 CA5901511	255	N>S		No	ClinGen ExAC TOPMed gnomAD
CA379772695 CA379772693 rs1213040117	258	V>L		No	ClinGen TOPMed gnomAD
CA218426025 rs1012472123	259	S>P		No	ClinGen TOPMed gnomAD
rs1303640977 CA379772634	260	P>A		No	ClinGen gnomAD
rs771017928 CA379772529	264	D>A		No	ClinGen ExAC gnomAD
rs771017928 CA5901507	264	D>G		No	ClinGen ExAC gnomAD
CA5901508 rs774351816	264	D>N		No	ClinGen ExAC TOPMed gnomAD
CA5901506 rs749752805	265	I>V		No	ClinGen ExAC gnomAD
CA5901505 rs369475868	270	W>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA379772324 rs369475868	270	W>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1405708021 CA379772270	272	D>H		No	ClinGen Ensembl
rs1405708021 CA379772266	272	D>N		No	ClinGen Ensembl
CA218425958 rs958787805	274	D>H		No	ClinGen Ensembl
TCGA novel	274	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1565287517 CA379772167	275	P>L		No	ClinGen Ensembl
rs1331004977 CA379772161	276	L>V		No	ClinGen gnomAD
CA379772109 rs1425915202	278	K>E		No	ClinGen gnomAD
CA5901504 rs770044730	279	P>L		No	ClinGen ExAC gnomAD
rs201913075 CA5901503	280	K>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs549441232 CA218425946	281	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs549441232 CA5901502	281	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1293039936 CA379772013	282	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
TCGA novel	282	D>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs935486380 CA218425939	283	N>D		No	ClinGen TOPMed
CA379771998 rs935486380	283	N>H		No	ClinGen TOPMed
CA5901501 rs754602826	283	N>S		No	ClinGen ExAC gnomAD
CA379771996 rs935486380	283	N>Y		No	ClinGen TOPMed
CA379771956 rs1200457889	284	V>A		No	ClinGen gnomAD
TCGA novel	286	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1239179629 CA379771883	287	L>S		No	ClinGen TOPMed
CA5901498 rs750362681	289	H>D		No	ClinGen ExAC TOPMed gnomAD
CA5901497 rs750362681	289	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs1264768977 CA379771770	292	E>K		No	ClinGen TOPMed
rs563801739 CA5901495	294	N>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5901493 rs763806636	295	V>I		No	ClinGen ExAC gnomAD
CA5901492 rs759701359	296	S>A		No	ClinGen ExAC gnomAD
TCGA novel	296	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA379771647 rs1236043148	297	S>G		No	ClinGen TOPMed
rs1438631859 CA379771627	297	S>N		No	ClinGen TOPMed
rs774585864 CA5901491	298	L>W		No	ClinGen ExAC gnomAD
rs143379015 CA379771589	300	A>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs766412628 CA5901490	300	A>S		No	ClinGen ExAC gnomAD
rs143379015 COSM3687201 CA5901489	300	A>V	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA379771578 rs1350777791	301	K>R		No	ClinGen gnomAD
rs773590675 CA5901488	307	V>I		No	ClinGen ExAC gnomAD
CA218425821 rs998826867	312	R>G		No	ClinGen Ensembl
rs1043801076 CA218425819	312	R>T		No	ClinGen TOPMed gnomAD
rs775520383 CA5901485	313	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs775520383 CA218425809	313	S>W		No	ClinGen ExAC TOPMed gnomAD
rs113596391 CA5901483	314	T>A		No	ClinGen ExAC gnomAD
rs746630341 CA5901482	315	A>T		No	ClinGen ExAC gnomAD
rs1459565184 CA379771347	315	A>V		No	ClinGen TOPMed
CA379771322 rs1175391711	317	C>S		No	ClinGen gnomAD
CA379771296 rs1329336955	318	H>R		No	ClinGen TOPMed
CA5901481 rs779900437	321	R>K		No	ClinGen ExAC TOPMed gnomAD
rs757966768 CA5901480	322	K>E		No	ClinGen ExAC gnomAD
rs1357483389 CA379771216	323	V>M		No	ClinGen gnomAD
CA218425745 rs946708967	325	G>A		No	ClinGen TOPMed
CA5901479 rs745438056	327	S>Y		No	ClinGen ExAC gnomAD
CA5901478 rs778289546	329	S>F		No	ClinGen ExAC gnomAD
CA5901476 rs753737725	332	T>A		No	ClinGen ExAC
CA379771056 rs1305518375	334	T>I		No	ClinGen TOPMed gnomAD
CA379771058 rs1305518375	334	T>R		No	ClinGen TOPMed gnomAD
rs1388988304 CA379771048	335	R>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs143829156 CA5901475	337	Q>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5901474 rs755939435	338	S>F		No	ClinGen ExAC gnomAD
rs368484462 CA5901473	342	R>*		No	ClinGen ESP ExAC gnomAD
rs368484462 CA218425704	342	R>G		No	ClinGen ESP ExAC gnomAD
rs766658261 CA5901472	342	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA5901469 rs371833721	344	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs1434770995 CA379770912	344	T>I		No	ClinGen gnomAD
CA218425664 rs368082873	345	Q>*		No	ClinGen ESP TOPMed
rs930362448 CA218425655	348	K>R		No	ClinGen Ensembl
rs769122041 COSM466616 CA5901466	352	H>R	kidney [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs374074952 CA5901465	354	S>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs775275171 CA5901464	355	Q>E		No	ClinGen ExAC gnomAD
rs1263114568 CA379768466	356	K>E		No	ClinGen gnomAD
rs1320481942 CA379768456	357	D>A		No	ClinGen gnomAD
rs761268332 CA5901446	359	N>D		No	ClinGen ExAC gnomAD
CA379768435 rs1227726075	360	G>E		No	ClinGen gnomAD
TCGA novel	360	G>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5901445 rs775939206	362	S>G		No	ClinGen ExAC gnomAD
rs1315784996 CA379768424	362	S>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs775939206 CA379768425	362	S>R		No	ClinGen ExAC gnomAD
rs372529369 CA5901443	363	S>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs773913402 CA5901442	363	S>R		No	ClinGen ExAC gnomAD
CA379768404 rs1468133823	365	P>S		No	ClinGen gnomAD
rs370682998 CA5901440	366	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA379768393 rs1325304150	367	G>*		No	ClinGen TOPMed
rs777272523 CA5901439	369	S>F		No	ClinGen ExAC gnomAD
rs1371624472 CA379768373	370	L>P		No	ClinGen gnomAD
rs769665210 CA5901438	373	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs1565278797 CA379768345	374	V>A		No	ClinGen Ensembl
rs1283068275 CA379768325	377	Q>R		No	ClinGen TOPMed
CA5901437 rs150455204	378	N>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs754769770 CA5901435	380	E>Q		No	ClinGen ExAC gnomAD
rs1259239085 CA379768297	381	M>L		No	ClinGen gnomAD
rs1195625190 CA379768290	382	A>T		No	ClinGen gnomAD
rs746082398 CA379768281	383	A>D		No	ClinGen ExAC TOPMed gnomAD
rs746082398 CA5901434	383	A>V		No	ClinGen ExAC TOPMed gnomAD
CA379768278 rs1268105090	384	F>L		No	ClinGen gnomAD
rs200864912 CA5901432	385	C>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5901433 rs200864912	385	C>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1382930225 CA379768270	385	C>Y		No	ClinGen gnomAD
CA5901431 rs140798253	386	R>Q		No	ClinGen ESP ExAC gnomAD
CA379768261 rs1449811176	387	S>T		No	ClinGen TOPMed gnomAD
CA379768250 rs1331951929	388	I>M		No	ClinGen gnomAD
CA5901430 rs764281013	388	I>S		No	ClinGen ExAC gnomAD
rs756640583 CA5901429	389	T>R		No	ClinGen ExAC TOPMed gnomAD
CA379768243 rs1165226914	390	K>E		No	ClinGen gnomAD
rs146442752 CA218411648	391	L>M		No	ClinGen ESP ExAC gnomAD
rs371259251 CA218411633	393	T>I		No	ClinGen ESP TOPMed
CA5901417 rs746844466	398	T>A		No	ClinGen ExAC TOPMed gnomAD
CA218411627 rs911115844	399	N>D		No	ClinGen TOPMed
rs1380930507 CA379767741	399	N>S		No	ClinGen TOPMed gnomAD
COSM1352929 rs779901272 CA5901416	400	H>R	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs541641928 CA5901415	401	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
COSM541822 rs749543841 CA5901414	401	R>H	lung Variant assessed as Somatic; 0.0 impact. endometrium [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA379767711 rs749543841	401	R>L		No	ClinGen ExAC TOPMed gnomAD
rs529451388 CA5901413	404	P>A		No	ClinGen 1000Genomes ExAC gnomAD
CA379767675 rs529451388	404	P>S		No	ClinGen 1000Genomes ExAC gnomAD
CA379767582 rs1267809640	410	P>L		No	ClinGen TOPMed gnomAD
rs143992011 CA5901411	413	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs576282936 CA5901409	414	Q>R		No	ClinGen 1000Genomes ExAC gnomAD
rs372981264 CA5901408	416	N>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5901407 rs766792332	417	I>L		No	ClinGen ExAC gnomAD
rs1259173863 CA379767482	417	I>M		No	ClinGen TOPMed
CA379767475 rs762477805	418	C>G		No	ClinGen ExAC gnomAD
CA5901406 rs762477805	418	C>R		No	ClinGen ExAC gnomAD
rs772891319 CA5901405	418	C>Y		No	ClinGen ExAC TOPMed gnomAD
COSM1585644 rs761373016 CA5901403	419	G>R	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA379767412 rs1345888850	422	A>V		No	ClinGen gnomAD
rs1317789487 CA379767400	423	S>G		No	ClinGen gnomAD
CA379767394 rs1398995945	423	S>N		No	ClinGen gnomAD
CA379767304 rs1177772627	428	I>S		No	ClinGen gnomAD
CA5901402 rs776548184	428	I>V		No	ClinGen ExAC TOPMed gnomAD
rs768409966 CA5901401	429	D>A		No	ClinGen ExAC gnomAD
TCGA novel	429	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs746978745 CA5901400	430	I>F		No	ClinGen ExAC TOPMed gnomAD
CA379767285 rs746978745	430	I>V		No	ClinGen ExAC TOPMed gnomAD
CA5901399 COSM1604376 rs775098118	431	E>G	liver [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1489039268 CA379767274	431	E>K		No	ClinGen gnomAD
CA379767253 rs1394558881	432	G>E		No	ClinGen TOPMed
CA5901398 rs771932470	432	G>R		No	ClinGen ExAC gnomAD
TCGA novel	432	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5901396 rs778186238	434	Q>H		No	ClinGen ExAC gnomAD
rs1175819786 CA379767200	438	T>S		No	ClinGen TOPMed
rs138300747 CA5901395	439	F>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA379767193 rs138300747	439	F>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs748302455 CA5901394	440	T>R		No	ClinGen ExAC gnomAD
rs780255108 CA5901390	442	D>A		No	ClinGen ExAC TOPMed gnomAD
rs752142585 CA5901391	442	D>N		No	ClinGen ExAC TOPMed gnomAD
CA5901378 rs770085365	444	S>N		No	ClinGen ExAC gnomAD
rs1358631282 CA379767025	445	S>P		No	ClinGen gnomAD
CA5901377 rs369900387	446	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA5901376 rs201808829	447	V>A		No	ClinGen ExAC TOPMed gnomAD
CA379766960 rs1333947544	450	I>V		No	ClinGen gnomAD
rs374707493 CA5901375	451	I>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA379766948 COSM1352928 rs1464408138	451	I>V	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA5901374 rs747454538	456	C>G		No	ClinGen ExAC gnomAD
CA5901373 rs780672615	457	W>C		No	ClinGen ExAC TOPMed gnomAD
rs758760896 CA379766845	459	H>P		No	ClinGen ExAC TOPMed gnomAD
rs758760896 CA5901372	459	H>R		No	ClinGen ExAC TOPMed gnomAD
CA218410083 rs993825548	461	D>E		No	ClinGen TOPMed gnomAD
CA379766826 rs1437061347	462	L>M		No	ClinGen gnomAD
rs1443480146 CA379766813	463	N>K		No	ClinGen gnomAD
rs779260273 CA5901370	464	Q>E		No	ClinGen ExAC gnomAD
rs1480840195 CA379766786	467	V>G		No	ClinGen gnomAD
rs756850566 CA5901369	467	V>I		No	ClinGen ExAC gnomAD
CA379766780 rs1232053686	468	G>D		No	ClinGen gnomAD
CA5901352 rs746394109	484	N>S		No	ClinGen ExAC gnomAD
CA379766298 rs1367042255	485	H>R		No	ClinGen gnomAD
CA379766300 rs1240412713	485	H>Y		No	ClinGen gnomAD
rs757655412 CA5901350	486	C>S		No	ClinGen ExAC gnomAD
TCGA novel	486	C>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs748870045 CA379766247	492	H>L		No	ClinGen ExAC TOPMed gnomAD
CA5901349 rs748870045	492	H>R		No	ClinGen ExAC TOPMed gnomAD
CA5901348 rs777538779	493	I>F		No	ClinGen ExAC gnomAD
TCGA novel	494	Q>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs755574225 CA5901347	497	R>*		No	ClinGen ExAC gnomAD
rs1190208640 CA379766213	497	R>Q		No	ClinGen TOPMed
CA218409186 rs950212994	500	D>N		No	ClinGen Ensembl
rs1403912240 CA379766175	502	E>V		No	ClinGen gnomAD
CA379766137 rs1481608907	508	L>S		No	ClinGen TOPMed
CA379766131 rs1453816515	509	T>A		No	ClinGen gnomAD
rs751588184 CA379766128	509	T>I		No	ClinGen ExAC gnomAD
rs751588184 CA5901343	509	T>N		No	ClinGen ExAC gnomAD
rs766256061 CA5901342	511	S>T		No	ClinGen ExAC gnomAD
rs762868029 CA5901341	513	M>V		No	ClinGen ExAC gnomAD
rs1429647974 CA379766093	514	C>Y		No	ClinGen gnomAD
CA5901340 rs776718286	516	N>S		No	ClinGen ExAC
rs372724550 CA5901339	518	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA218409173 rs917390877	519	R>*		No	ClinGen TOPMed
rs760823679 CA5901338	519	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA5901328 rs778002892	522	E>D		No	ClinGen ExAC gnomAD
rs755732683 CA5901327	523	D>G		No	ClinGen ExAC TOPMed gnomAD
CA5901326 rs747790083	526	T>A		No	ClinGen ExAC gnomAD
TCGA novel	527	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1185991067 CA379766001	527	P>R		No	ClinGen gnomAD
rs142237126 CA5901324	528	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA5901323 rs148684462	532	K>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5901321 rs758276141	533	H>L		No	ClinGen ExAC gnomAD
CA5901322 rs766494656	533	H>N		No	ClinGen ExAC TOPMed gnomAD
CA379765960 rs758276141	533	H>P		No	ClinGen ExAC gnomAD
CA379765961 rs758276141	533	H>R		No	ClinGen ExAC gnomAD
CA379765962 rs766494656	533	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs1227612308 CA379765953	534	L>R		No	ClinGen TOPMed gnomAD
CA379765948 rs1490183288	535	Y>C		No	ClinGen TOPMed
rs184367617 CA218408018	536	Q>K		No	ClinGen Ensembl
rs1325378312 CA379765941	536	Q>R		No	ClinGen gnomAD
CA379765932 rs1428571653	537	I>M		No	ClinGen gnomAD
rs762174353 CA5901320	537	I>T		No	ClinGen ExAC gnomAD
CA379765927 rs1200056320	538	E>G		No	ClinGen TOPMed
rs1590960494 CA379765917	539	K>N		No	ClinGen Ensembl
CA5901319 rs539840712	540	P>L		No	ClinGen 1000Genomes ExAC gnomAD
CA218408010 rs191823727	541	C>*		No	ClinGen Ensembl
CA379765885 rs1468053196	544	A>G		No	ClinGen gnomAD
CA5901318 rs144085067	544	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	545	M>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5901316 rs551448516	546	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs551448516 CA218408000	546	T>R		No	ClinGen ExAC TOPMed gnomAD
CA5901296 CA379765844 rs113876830	548	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs763488148 CA5901295	549	P>S		No	ClinGen ExAC gnomAD
rs1479309183 CA379765830	551	E>K		No	ClinGen gnomAD
TCGA novel	552	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1555026591 CA379765815	553	L>F		No	ClinGen Ensembl
rs370167622 CA5901293	555	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs1441324365 CA379765794	556	S>A		No	ClinGen Ensembl
TCGA novel	556	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA379765780 rs1305191055	558	H>Y		No	ClinGen gnomAD
CA379765738 rs1394977639	560	Q>R		No	ClinGen TOPMed
CA5901291 rs777144610	562	E>G		No	ClinGen ExAC gnomAD
CA5901292 rs762335382	562	E>K		No	ClinGen ExAC gnomAD
rs1409841298 CA379765683	564	A>V		No	ClinGen TOPMed
CA5901290 rs189274292	565	L>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs78200857 CA218407757	568	E>A		No	ClinGen gnomAD
CA5901289 rs149507062	568	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA5901271 rs764587414	572	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA5901270 rs139987687	573	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA5901269 rs139987687	573	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA5901267 rs567277871	574	V>A		No	ClinGen 1000Genomes ExAC gnomAD
CA5901268 rs771593331	574	V>L		No	ClinGen ExAC gnomAD
rs1428236395 CA379764938	575	D>N		No	ClinGen gnomAD
TCGA novel	576	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA379764901 rs1439136792	577	V>A		No	ClinGen TOPMed
rs777392645 CA218396525	578	I>V		No	ClinGen Ensembl
rs1565266586 CA379764877	579	K>N		No	ClinGen Ensembl
CA5901266 rs773916090	579	K>R		No	ClinGen ExAC gnomAD
CA379764864 rs1476112089	581	V>I		No	ClinGen gnomAD
rs1040207651 CA218396523	583	K>E		No	ClinGen Ensembl
TCGA novel	584	I>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5901265 rs770797041	584	I>T		No	ClinGen ExAC TOPMed gnomAD
rs548988482 CA5901264	585	C>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA379764807 rs1463527237	585	C>Y		No	ClinGen gnomAD
rs888107126 CA218396500	586	S>G		No	ClinGen TOPMed
RCV000953457 rs61733866 CA5901262	586	S>N		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA379764783 rs1322540812	587	A>T		No	ClinGen gnomAD
rs1362780604 CA379764723	592	E>K		No	ClinGen gnomAD
rs758651627 CA5901259	596	I>V		No	ClinGen ExAC gnomAD
CA379764685 rs1389702213	597	T>A		No	ClinGen TOPMed
rs1048390505 CA218396470	605	R>T		No	ClinGen Ensembl
rs1405908531 CA379764572	607	V>G		No	ClinGen TOPMed
rs750414961 CA5901258	610	P>L		No	ClinGen ExAC gnomAD
CA379764539 rs1479461285	610	P>S		No	ClinGen TOPMed gnomAD
TCGA novel	611	R>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5901257 rs765384257	612	S>N		No	ClinGen ExAC TOPMed gnomAD
rs200378520 CA218396452	613	K>I		No	ClinGen 1000Genomes
rs746136089 CA5901237	619	S>Y		No	ClinGen ExAC gnomAD
rs1361875450 CA379764038	624	E>D		No	ClinGen TOPMed
CA5901236 rs372554169	625	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs184357582 CA5901235	626	T>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5901233 rs778486543	626	T>N		No	ClinGen ExAC TOPMed gnomAD
CA5901234 rs778486543	626	T>S		No	ClinGen ExAC TOPMed gnomAD
rs375877131 CA218395915	627	S>I		No	ClinGen ESP gnomAD
rs143022303 CA5901232	628	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA379764016 rs912989706	628	R>S		No	ClinGen gnomAD
CA379764011 rs1251378935	629	S>N		No	ClinGen gnomAD
CA5901231 rs752945359	631	T>P		No	ClinGen ExAC gnomAD
rs1490870545 CA379763992	632	R>T		No	ClinGen gnomAD
CA5901216 rs199594234	634	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1283514231 CA379763963	635	L>R		No	ClinGen gnomAD
rs778012293 CA5901215	635	L>V		No	ClinGen ExAC gnomAD
rs756529364 CA5901214	637	P>R		No	ClinGen ExAC gnomAD
rs952720197 CA218395786	637	P>S		No	ClinGen Ensembl
CA5901211 rs755429796	638	E>G		No	ClinGen ExAC gnomAD
CA5901212 rs138998542	638	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs1040749309 CA218395763	639	N>H		No	ClinGen TOPMed gnomAD
TCGA novel	640	P>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA218395757 rs373528338	640	P>L		No	ClinGen ESP TOPMed
CA5901210 rs150187690	640	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA379763923 rs1156732878	642	Q>R		No	ClinGen TOPMed gnomAD
CA379763882 rs1304623959	648	L>I		No	ClinGen TOPMed
rs1468725672 CA379763879	648	L>S		No	ClinGen TOPMed gnomAD
rs1431512626 CA379763853	652	I>T		No	ClinGen gnomAD
CA379763857 rs1198350382	652	I>V		No	ClinGen TOPMed gnomAD
CA218395755 rs961160761	653	Y>C		No	ClinGen Ensembl
rs1262417394 CA379763833	655	L>F		No	ClinGen TOPMed
CA5901208 rs568282518	655	L>P		No	ClinGen 1000Genomes ExAC gnomAD
CA5901207 rs550474458	661	N>D		No	ClinGen 1000Genomes ExAC gnomAD
rs550474458 CA218395749	661	N>H		No	ClinGen 1000Genomes ExAC gnomAD
CA379763785 rs1266779970	663	G>S		No	ClinGen gnomAD
rs764762227 CA5901206	666	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1324648633 CA379763754	667	T>I		No	ClinGen gnomAD
rs761627636 CA5901205	670	A>T		No	ClinGen ExAC gnomAD
rs1232026577 CA379763732	671	Q>K		No	ClinGen TOPMed gnomAD
CA379763728 rs1469554058	671	Q>R		No	ClinGen TOPMed
CA5901204 rs142033802	672	S>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA379763722 rs1590947191	672	S>N		No	ClinGen Ensembl
CA5901203 rs570862707	674	K>T		No	ClinGen 1000Genomes ExAC gnomAD
CA5901202 rs760582693	676	V>D		No	ClinGen ExAC gnomAD
TCGA novel	679	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1172241152 CA379763664	680	W>*		No	ClinGen gnomAD
CA379763667 CA379763665 rs1406454525	680	W>R		No	ClinGen gnomAD
rs61736299 CA5901200	683	T>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs143769023 CA5901199	683	T>I		No	ClinGen ESP ExAC gnomAD
TCGA novel	685	Q>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs769955754 CA5901197	689	T>A		No	ClinGen ExAC gnomAD
rs1161992181 CA379763598	690	I>V		No	ClinGen TOPMed
CA379763549 rs1185898698	697	S>A		No	ClinGen gnomAD
CA379763551 rs1185898698	697	S>P		No	ClinGen gnomAD
CA5901195 rs781757551	698	S>N		No	ClinGen ExAC TOPMed gnomAD
CA379763539 rs1199074555	698	S>R		No	ClinGen gnomAD
CA218395677 rs1001162503	701	V>L		No	ClinGen TOPMed gnomAD
CA379763512 rs1440351705	702	S>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA5901178 rs776589694	704	Y>C		No	ClinGen ExAC gnomAD
CA379763239 rs776589694	704	Y>F		No	ClinGen ExAC gnomAD
rs769159672 CA5901177	705	E>G		No	ClinGen ExAC gnomAD
CA5901176 rs368036462	708	Y>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA379763205 rs758816096	709	L>V		No	ClinGen ExAC TOPMed gnomAD
rs376765337 CA5901173	710	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1454479607 CA379763198	710	I>V		No	ClinGen TOPMed
rs867131563 CA218394137	712	S>A		No	ClinGen Ensembl
CA379763168 COSM687084 rs1305079587	715	H>D	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs756860176 CA5901171	716	N>S		No	ClinGen ExAC gnomAD
rs908898069 CA218394124	718	K>R		No	ClinGen TOPMed
rs145312949 RCV001210676 CA5901169	719	D>E		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1182478714 CA379763127	721	F>L		No	ClinGen gnomAD
rs1249122081 CA379763081	727	K>R		No	ClinGen gnomAD
rs1201033616 CA379763065	729	V>A		No	ClinGen gnomAD
rs752719935 CA5901167	730	G>D		No	ClinGen ExAC gnomAD
rs1289066236 CA379763051	732	Y>H		No	ClinGen gnomAD
rs1327949377 CA379763038	733	K>N		No	ClinGen gnomAD
CA379763041 rs1207947535	733	K>R		No	ClinGen gnomAD
rs1352605981 CA379763022	735	F>L		No	ClinGen gnomAD
rs1227525653 CA379763014	736	F>L		No	ClinGen gnomAD
rs1268586323 CA379763018	736	F>V		No	ClinGen gnomAD
rs1348939380 CA379763009	737	Y>C		No	ClinGen TOPMed gnomAD
CA379763002 rs1262941016	738	L>F		No	ClinGen TOPMed
rs1437295341 CA379762995	739	I>T		No	ClinGen gnomAD
rs1285412546 CA379762997	739	I>V		No	ClinGen gnomAD
rs767397088 CA5901166	743	E>D		No	ClinGen ExAC gnomAD
CA379762942 rs1377634298	745	I>V		No	ClinGen TOPMed
CA379762930 rs1414735372	746	I>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA5901143 rs754979640	748	P>S		No	ClinGen ExAC gnomAD
rs751322653 CA5901142	749	I>V		No	ClinGen ExAC gnomAD
rs913112185 CA218392685	750	Q>R		No	ClinGen Ensembl
rs976991795 CA218392681	751	I>V		No	ClinGen Ensembl
CA379762896 rs766120676	752	S>A		No	ClinGen ExAC TOPMed gnomAD
CA5901140 rs762066834	752	S>L		No	ClinGen ExAC gnomAD
CA5901141 rs766120676	752	S>P		No	ClinGen ExAC TOPMed gnomAD
rs1244689951 CA379762872	755	P>L		No	ClinGen gnomAD
rs1276763445 CA379762850	759	V>I		No	ClinGen gnomAD
rs1276763445 CA379762849	759	V>L		No	ClinGen gnomAD
CA5901135 rs772506697	761	H>Y		No	ClinGen ExAC gnomAD
CA218392641 rs952715881	762	L>F		No	ClinGen TOPMed
CA379762819 rs1297553887	764	L>I		No	ClinGen gnomAD
rs1413395903 CA379762807	765	F>L		No	ClinGen gnomAD
rs1303837163 CA379762750	773	G>A		No	ClinGen TOPMed gnomAD
TCGA novel	774	S>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs866933653 CA218392622	775	S>F		No	ClinGen Ensembl
CA5901131 rs374329810	776	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA5901130 rs149664988	777	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs747605312 CA5901128	779	N>D		No	ClinGen ExAC gnomAD
CA5901127 rs780871964	779	N>S		No	ClinGen ExAC TOPMed gnomAD
CA379762697 rs1415835912	781	Q>H		No	ClinGen gnomAD
CA379762677 rs1235952698	784	G>E		No	ClinGen gnomAD
TCGA novel	786	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA218392611 rs897408594	787	A>T		No	ClinGen Ensembl
rs779880420 CA5901123	789	G>S		No	ClinGen ExAC gnomAD
CA5901122 rs758187997	791	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1203076613 CA379762612	794	P>L		No	ClinGen gnomAD
rs754090449 CA5901121	796	F>V		No	ClinGen ExAC
TCGA novel	797	D>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	797	D>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1465289214 CA379762593	797	D>E		No	ClinGen TOPMed
rs745763511 CA5901120	797	D>V		No	ClinGen ExAC TOPMed gnomAD
rs1314053815 CA379762586	798	F>C		No	ClinGen gnomAD
rs767998149 CA218392605	799	K>Q		No	ClinGen Ensembl
rs201036447 CA379762576	800	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs767613014 CA5901117	800	R>Q		No	ClinGen ExAC gnomAD
rs201036447 CA5901118	800	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs937452378 CA379762543	803	T>I		No	ClinGen TOPMed gnomAD
rs937452378 CA218389245	803	T>K		No	ClinGen TOPMed gnomAD
CA218389247 rs991592161	803	T>P		No	ClinGen TOPMed
rs1435029934 CA379762537	804	C>Y		No	ClinGen gnomAD
rs1359894215 CA379762532	805	G>*		No	ClinGen gnomAD
CA5901101 rs752954248	805	G>A		No	ClinGen ExAC gnomAD
TCGA novel	807	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA218389239 rs952995310	808	L>F		No	ClinGen TOPMed gnomAD
rs1295392774 CA379762507	809	L>P		No	ClinGen gnomAD
rs1565257125 CA379762510	809	L>V		No	ClinGen Ensembl
CA5901097 rs139656286	811	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA5901098 rs139656286	811	L>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1479379411 CA379762480	813	T>S		No	ClinGen TOPMed
CA5901096 rs763539325	816	H>P		No	ClinGen ExAC TOPMed gnomAD
rs763539325 CA218389226	816	H>R		No	ClinGen ExAC TOPMed gnomAD
rs1190658029 CA379762450	818	N>S		No	ClinGen TOPMed gnomAD
rs1250441581 CA379762415	824	V>L		No	ClinGen TOPMed gnomAD
CA5901094 rs190640695	825	T>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1328842806 CA379762407	825	T>N		No	ClinGen gnomAD
CA5901093 rs761809205	826	K>E		No	ClinGen ExAC gnomAD
rs1226140778 CA379762400	826	K>N		No	ClinGen TOPMed gnomAD
CA379762391 rs776487909	827	K>N		No	ClinGen ExAC gnomAD
TCGA novel	828	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs746441861 CA5901090	829	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs746441861 CA5901091	829	Y>F		No	ClinGen ExAC TOPMed gnomAD
CA5901089 rs775083218	831	M>T		No	ClinGen ExAC gnomAD
CA5901088 rs771852282	832	E>G		No	ClinGen ExAC gnomAD
rs1427883893 CA379762346	834	I>T		No	ClinGen gnomAD
rs1401191889 CA379762307	838	V>G		No	ClinGen TOPMed
rs1467241110 CA379762302	839	D>G		No	ClinGen TOPMed
rs1334700705 CA379762285	841	P>L		No	ClinGen TOPMed
rs768720821 CA5901063	842	S>A		No	ClinGen ExAC gnomAD
rs768720821 CA5901064	842	S>P		No	ClinGen ExAC gnomAD
CA379762278 rs1464612674	843	P>S		No	ClinGen TOPMed gnomAD
CA5901062 rs747295870	844	A>T		No	ClinGen ExAC gnomAD
CA379762266 rs1590932441	845	F>Y		No	ClinGen Ensembl
CA379762258 rs1449436661	846	D>G		No	ClinGen gnomAD
rs779977105 CA5901061	847	I>T		No	ClinGen ExAC gnomAD
rs1227288259 CA379762252	847	I>V		No	ClinGen gnomAD
rs201245466 CA218389018	848	I>T		No	ClinGen TOPMed gnomAD
rs758610305 CA5901060	848	I>V		No	ClinGen ExAC gnomAD
CA379762233 rs1284597302	850	T>A		No	ClinGen TOPMed
rs1381030168 CA379762228	851	T>A		No	ClinGen TOPMed
CA5901059 rs750963227	852	P>S		No	ClinGen ExAC TOPMed gnomAD
CA5901058 rs779499163	856	R>G		No	ClinGen ExAC
CA379762187 rs1277472316	857	S>C		No	ClinGen TOPMed
rs913255299 CA218389004	858	I>V		No	ClinGen TOPMed
CA5901057 rs757856369	860	Q>R		No	ClinGen ExAC gnomAD
CA5901055 rs764546902	866	T>I		No	ClinGen ExAC TOPMed gnomAD
rs1239625481 CA379762106	868	E>D		No	ClinGen TOPMed
rs1210339640 CA379762108	868	E>G		No	ClinGen TOPMed
rs1485087541 CA379762103	869	N>D		No	ClinGen TOPMed
rs904177344 CA218388998	869	N>S		No	ClinGen Ensembl
CA5901054 rs375806515	870	D>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA379762054 rs1341448846	871	I>T		No	ClinGen gnomAD
CA379761986 rs1268331013	875	L>V		No	ClinGen gnomAD
rs1246733477 CA379761967	876	L>F		No	ClinGen gnomAD
CA5901053 rs752440731	876	L>R		No	ClinGen ExAC gnomAD
CA379761894 rs1479054492	880	H>Y		No	ClinGen TOPMed
rs766921444 CA5901051	882	D>V		No	ClinGen ExAC gnomAD
rs1394559748 CA379761847	882	D>Y		No	ClinGen gnomAD
CA218388991 rs150999201	883	S>L		No	ClinGen ESP
rs1174395201 CA379761829	883	S>P		No	ClinGen TOPMed
rs1230626745 CA379761355	887	L>V		No	ClinGen gnomAD
rs773261003 CA5901025	888	S>A		No	ClinGen ExAC gnomAD
CA5901024 rs764939366	889	K>E		No	ClinGen ExAC gnomAD
rs1211604457 CA379761326	891	D>G		No	ClinGen gnomAD
CA5901022 rs776307161	893	A>T		No	ClinGen ExAC gnomAD
CA379761267 rs1227967998	899	R>C		No	ClinGen TOPMed gnomAD
rs142618473 CA5901021	899	R>H		No	ClinGen 1000Genomes ESP ExAC gnomAD
rs1276725555 CA379761236	903	F>S		No	ClinGen gnomAD
rs746128925 CA5901020	905	H>R		No	ClinGen ExAC TOPMed gnomAD
rs1396634703 CA379761213	906	P>R		No	ClinGen TOPMed
TCGA novel	907	N>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA379761205 rs1331090756	907	N>K		No	ClinGen gnomAD
CA5901018 rs112584158	908	C>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA218387998 rs112584158	908	C>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA5901019 rs774536784	908	C>S		No	ClinGen ExAC gnomAD
rs749741960 CA5901017	911	K>E		No	ClinGen ExAC TOPMed gnomAD
CA218387991 rs765861760	911	K>R		No	ClinGen TOPMed gnomAD
rs534080539 CA5901016	912	I>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs756582386 CA5901015	914	A>T		No	ClinGen ExAC gnomAD
CA5901014 rs748486632	914	A>V		No	ClinGen ExAC TOPMed gnomAD
CA379761161 rs1478037785	915	S>C		No	ClinGen gnomAD
CA379761156 rs369335895	915	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA5901012 COSM687085 rs573278976	916	A>S	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA5901011 rs573278976 COSM42687	916	A>T	Variant assessed as Somatic; 0.0 impact. large_intestine central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA5901010 rs765862663	916	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1248470657 CA379761150	917	P>S		No	ClinGen TOPMed gnomAD
CA5901009 rs757994642	918	N>D		No	ClinGen ExAC gnomAD
CA379761134 rs1280974544	919	W>L		No	ClinGen gnomAD
rs749908394 CA5901008	920	K>E		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	924	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5901006 rs761682657	924	L>I		No	ClinGen ExAC gnomAD
rs776450373 CA5901005	924	L>P		No	ClinGen ExAC gnomAD
CA5901004 rs764016965	926	K>Q		No	ClinGen ExAC
rs759806799 CA5901003	928	Y>*		No	ClinGen ExAC gnomAD
rs1429045634 CA379761040	933	Q>R		No	ClinGen gnomAD
CA5901000 rs749321248	937	L>F		No	ClinGen ExAC
CA218387924 rs923969111	941	I>F		No	ClinGen Ensembl
CA218387921 rs972103484	942	A>G		No	ClinGen TOPMed
TCGA novel	942	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs770285245 CA5900998	943	L>S		No	ClinGen ExAC gnomAD
rs1414578721 CA379760898	943	L>V		No	ClinGen TOPMed gnomAD
CA218387914 rs963406083	944	E>G		No	ClinGen TOPMed
CA379760839 rs1408176510	947	D>Y		No	ClinGen TOPMed
TCGA novel	950	F>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs747313709 CA5900973	953	Q>H		No	ClinGen ExAC gnomAD
CA5900974 rs769153396	953	Q>K		No	ClinGen ExAC gnomAD
rs1184458120 CA379760661	953	Q>R		No	ClinGen gnomAD
CA5900971 rs139633447	957	S>A		No	ClinGen ESP ExAC gnomAD
CA379760610 rs139633447	957	S>T		No	ClinGen ESP ExAC gnomAD
CA379760547 CA5900968 rs756778500	962	W>R		No	ClinGen ExAC gnomAD
rs757321601 CA5900966	966	I>T		No	ClinGen ExAC gnomAD
CA379760456 rs1258519652	968	D>N		No	ClinGen TOPMed
CA379760367 rs1565254267	973	D>E		No	ClinGen Ensembl
TCGA novel	973	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA379760373 rs1165299885	973	D>V		No	ClinGen gnomAD
CA379760375 rs1263201026	973	D>Y		No	ClinGen TOPMed
rs767248546 CA5900963	976	P>A		No	ClinGen ExAC gnomAD
TCGA novel	977	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs763204433 CA5900961	978	F>L		No	ClinGen ExAC TOPMed gnomAD
CA379760318 rs1254209983	979	V>A		No	ClinGen TOPMed
rs777965073 CA218387735	979	V>I		No	ClinGen TOPMed
CA379760293 rs369031488	981	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA5900937 rs369031488	981	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs775922604 CA5900936	984	Y>C		No	ClinGen ExAC gnomAD
rs759755433 CA5900934	987	Y>H		No	ClinGen ExAC gnomAD
rs1360556665 CA379760221	991	S>L		No	ClinGen TOPMed
rs774794878 CA5900933	993	V>M		No	ClinGen ExAC
rs997099090 CA218387523	996	L>F		No	ClinGen TOPMed
rs1565253825 CA379760149	1002	G>A		No	ClinGen Ensembl
CA5900931 rs748980943	1002	G>R		No	ClinGen ExAC gnomAD
CA218387504 rs369057495	1003	N>S		No	ClinGen TOPMed gnomAD
rs1189677263 CA379760130	1005	Q>R		No	ClinGen TOPMed gnomAD
rs772818522 CA5900930	1008	H>D		No	ClinGen ExAC gnomAD
CA5900929 rs769477690	1009	N>D		No	ClinGen ExAC gnomAD
CA379760103 rs748093720	1009	N>S		No	ClinGen ExAC gnomAD
CA5900928 rs748093720	1009	N>T		No	ClinGen ExAC gnomAD
CA379759684 rs1314646321	1016	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs200397229 CA5900896	1017	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs894697678 CA218386886	1017	A>V		No	ClinGen TOPMed
rs1372642928 CA379759647	1019	H>Q		No	ClinGen TOPMed
rs1394958998 CA379759652	1019	H>R		No	ClinGen gnomAD
rs1458677072 CA379759617	1021	V>A		No	ClinGen gnomAD
rs1295711372 CA379759626	1021	V>I		No	ClinGen gnomAD
CA379759608 rs1418123503	1022	Q>L		No	ClinGen gnomAD
CA379759562 rs1473954404	1025	T>A		No	ClinGen TOPMed gnomAD
CA5900893 rs368455172	1026	R>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA5900892 rs368455172	1026	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA5900891 rs756345749	1026	R>L		No	ClinGen ExAC gnomAD
COSM1220572 CA379759548 rs756345749	1026	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA379759533 rs1211430835	1027	Y>*		No	ClinGen TOPMed gnomAD
CA379759543 rs1248313705	1027	Y>H		No	ClinGen gnomAD
CA5900889 rs781365268	1028	E>G		No	ClinGen ExAC gnomAD
CA5900890 rs752673250	1028	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA218386845 CA5900887 rs749590065	1029	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs1231739827 CA379759502	1029	H>R		No	ClinGen gnomAD
CA5900886 rs766836916	1030	V>I		No	ClinGen ExAC gnomAD
rs1000340862 CA218386834	1031	L>F		No	ClinGen Ensembl
rs1334520637 CA379759463	1032	G>D		No	ClinGen TOPMed gnomAD
rs865991944 CA218386829	1033	A>S		No	ClinGen Ensembl
CA379759445 COSM3791381 rs1565252733	1034	L>V	Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated Ensembl NCI-TCGA
CA5900885 rs763342175	1037	V>A		No	ClinGen ExAC gnomAD
CA5900884 rs750830627	1040	K>E		No	ClinGen ExAC gnomAD
CA5900883 rs764932795	1041	R>*		No	ClinGen ExAC gnomAD
rs775971184 CA5900881	1041	R>L		No	ClinGen ExAC TOPMed gnomAD
CA5900882 rs775971184	1041	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA5900880 rs768258497	1042	L>F		No	ClinGen ExAC TOPMed gnomAD
CA218386815 rs144255421	1043	R>G		No	ClinGen ESP TOPMed
CA5900879 rs760512361	1043	R>K		No	ClinGen ExAC TOPMed gnomAD
CA5900878 rs775469539	1044	E>G		No	ClinGen ExAC gnomAD
CA5900877 rs772005081	1046	L>F		No	ClinGen ExAC gnomAD
rs772005081 CA379759304	1046	L>I		No	ClinGen ExAC gnomAD
rs778703991 CA5900875	1049	Q>*		No	ClinGen ExAC gnomAD
rs1416264792 CA379759243	1050	T>A		No	ClinGen TOPMed
CA5900874 rs748443830	1050	T>K		No	ClinGen ExAC TOPMed gnomAD
CA5900873 rs748443830	1050	T>M		No	ClinGen ExAC TOPMed gnomAD
rs1211583293 CA379759219	1052	L>F		No	ClinGen gnomAD
rs755143641 CA5900871	1053	V>A		No	ClinGen ExAC TOPMed gnomAD
rs755143641 CA218386784	1053	V>E		No	ClinGen ExAC TOPMed gnomAD
COSM287800 CA5900870 rs752006878	1057	G>R	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1348574592 CA379759146	1063	V>G		No	ClinGen gnomAD
rs780649039 CA5900869	1065	Q>H		No	ClinGen ExAC gnomAD
rs1235738182 CA379759135	1065	Q>P		No	ClinGen gnomAD
rs1301784763 CA379759131	1066	A>T		No	ClinGen gnomAD
rs1328021265 CA379759104	1070	A>P		No	ClinGen TOPMed
CA379758430 rs1485348453	1076	Q>*		No	ClinGen gnomAD
rs149552115 CA5900840	1078	S>G		No	ClinGen ESP ExAC gnomAD
CA5900838 rs767057030	1078	S>N		No	ClinGen ExAC
rs149552115 CA5900839	1078	S>R		No	ClinGen ESP ExAC gnomAD
CA5900837 rs759447921	1079	M>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1082	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5900836 rs774332927	1084	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1337055074 CA379758313	1085	F>V		No	ClinGen gnomAD
rs201726665 CA5900835	1092	R>C		No	ClinGen ExAC TOPMed gnomAD
CA5900833 rs138330827	1092	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA5900834 rs138330827	1092	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs768883651 CA5900832	1093	L>F		No	ClinGen ExAC TOPMed gnomAD
rs986619624 CA218385870	1094	P>H		No	ClinGen Ensembl
CA5900831 rs747272296	1094	P>S		No	ClinGen ExAC gnomAD
CA379758174 rs1355038375	1095	L>V		No	ClinGen gnomAD
CA379758154 rs1328005196	1096	K>N		No	ClinGen TOPMed gnomAD
rs200808937 CA5900830	1097	P>L		No	ClinGen ExAC TOPMed gnomAD
CA379758137 rs1363737266	1098	S>G		No	ClinGen Ensembl
CA379758130 rs1420301101	1098	S>N		No	ClinGen gnomAD
CA5900829 rs772333520	1098	S>R		No	ClinGen ExAC TOPMed gnomAD
CA379758107 rs1415835531	1100	V>A		No	ClinGen gnomAD
rs746368737 CA5900828	1100	V>L		No	ClinGen ExAC gnomAD
rs1179020485 CA379758100	1101	A>T		No	ClinGen gnomAD
rs1176835341 CA379758060	1103	E>D		No	ClinGen Ensembl
CA379758056 rs1481279233	1104	L>I		No	ClinGen gnomAD
rs757722080 CA5900826	1106	I>T		No	ClinGen ExAC gnomAD
CA5900827 rs779406844	1106	I>V		No	ClinGen ExAC gnomAD
CA5900808 rs201773952	1108	S>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs879252593 CA218385378	1113	S>G		No	ClinGen Ensembl
rs1468608051 CA379757633	1113	S>T		No	ClinGen TOPMed
rs770204116 CA5900806	1114	S>P		No	ClinGen ExAC gnomAD
rs1215177748 CA379757623	1115	N>D		No	ClinGen TOPMed
TCGA novel	1117	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1303954156 CA379757602	1118	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA5900805 rs747796141	1120	K>E		No	ClinGen ExAC gnomAD
CA379757588 rs1290811602	1120	K>N		No	ClinGen gnomAD
CA379757590 rs1369054820	1120	K>R		No	ClinGen TOPMed gnomAD
rs1023427333 CA218385368	1121	V>I		No	ClinGen TOPMed gnomAD
CA379757562 rs1366039418	1124	V>E		No	ClinGen TOPMed
CA5900803 rs754640159	1128	P>S		No	ClinGen ExAC gnomAD
rs534820406 CA5900802	1129	M>T		No	ClinGen ExAC TOPMed gnomAD
CA379757532 rs1065445	1129	M>V		No	ClinGen TOPMed gnomAD
CA5900801 rs532573805	1131	E>A		No	ClinGen 1000Genomes ExAC gnomAD
rs1590920403 CA379757481	1136	M>T		No	ClinGen Ensembl
rs758331897 CA5900800	1136	M>V		No	ClinGen ExAC gnomAD
rs750384206 CA5900799	1138	K>Q		No	ClinGen ExAC gnomAD
CA5900772 rs766477377	1139	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1342002914 CA379762052	1143	L>I		No	ClinGen TOPMed
CA5900770 rs773294986	1144	R>L		No	ClinGen ExAC TOPMed gnomAD
rs773294986 CA5900771	1144	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1312330046 CA379762041	1144	R>W		No	ClinGen TOPMed gnomAD
CA5900767 rs776955760	1146	D>G		No	ClinGen ExAC TOPMed gnomAD
CA5900765 rs540582751	1147	M>T		No	ClinGen 1000Genomes ExAC gnomAD
rs769067066 CA5900766	1147	M>V		No	ClinGen ExAC gnomAD
rs1435007924 CA379761993	1148	L>F		No	ClinGen Ensembl
CA5900764 rs144811457	1150	L>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1489912868 CA379761952	1152	M>T		No	ClinGen gnomAD
rs771764966 CA5900763	1153	I>M		No	ClinGen ExAC gnomAD
CA218422941 rs978874865	1154	K>M		No	ClinGen Ensembl
rs142162847 CA5900762	1155	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1464336473 CA379761911	1156	M>T		No	ClinGen TOPMed
rs1048792166 CA218422923	1156	M>V		No	ClinGen TOPMed
rs138982128 CA5900761	1159	I>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1186598364 CA379761860	1160	W>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1422042603 CA379761845	1162	K>E		No	ClinGen gnomAD
CA218422909 rs747705657	1166	D>A		No	ClinGen Ensembl
rs749292026 CA5900759	1170	V>I		No	ClinGen ExAC gnomAD
CA379761751 rs1480166890	1171	I>N		No	ClinGen gnomAD
rs777700839 CA5900758	1174	C>S		No	ClinGen ExAC TOPMed gnomAD
rs1346441963 CA379761722	1175	L>V		No	ClinGen TOPMed gnomAD
rs866908599 CA218422898	1176	S>*		No	ClinGen TOPMed gnomAD
rs866908599 CA379761714	1176	S>L		No	ClinGen TOPMed gnomAD
CA5900756 rs752541285	1177	T>A		No	ClinGen ExAC gnomAD
CA5900755 rs766456144	1179	R>G		No	ClinGen ExAC gnomAD
CA5900754 rs758670140	1181	R>*		No	ClinGen ExAC gnomAD
rs1435241298 CA379761687	1181	R>Q		No	ClinGen TOPMed
CA379761668 rs1375318219	1182	G>A		No	ClinGen gnomAD
COSM1352925 CA5900733 rs765296950	1183	M>I	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
TCGA novel	1184	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA218419520 rs201770470	1184	V>M		No	ClinGen 1000Genomes
rs757259309 CA5900732	1185	E>D		No	ClinGen ExAC gnomAD
rs773945840 CA218419506	1188	P>L		No	ClinGen Ensembl
rs372378056 CA5900729	1191	D>E		No	ClinGen ESP ExAC gnomAD
rs764455543 CA5900730	1191	D>H		No	ClinGen ExAC TOPMed gnomAD
rs764455543 CA379761618	1191	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1416685209 CA379761605	1193	L>V		No	ClinGen TOPMed gnomAD
rs752969960 CA5900728	1194	R>G		No	ClinGen ExAC gnomAD
rs1430665356 CA379761568	1198	V>A		No	ClinGen gnomAD
CA5900727 rs772124449	1198	V>L		No	ClinGen ExAC TOPMed gnomAD
rs368477046 CA5900724	1203	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA5900723 rs762494848	1204	G>R		No	ClinGen ExAC gnomAD
rs892797218 CA218419456	1205	S>P		No	ClinGen TOPMed
CA379761496 rs1204613962	1209	K>T		No	ClinGen gnomAD
rs1479532381 CA379761489	1210	P>T		No	ClinGen gnomAD
CA379761485 rs1283010590	1211	L>I		No	ClinGen gnomAD
CA379761479 rs374305923	1212	A>S		No	ClinGen ESP ExAC gnomAD
CA5900722 rs374305923	1212	A>T		No	ClinGen ESP ExAC gnomAD
rs903700510 CA218419448	1213	E>*		No	ClinGen Ensembl
CA5900721 rs769579831	1216	R>K		No	ClinGen ExAC gnomAD
CA5900720 rs748164018	1219	N>S		No	ClinGen ExAC TOPMed gnomAD
CA218419433 rs145095769	1220	P>R		No	ClinGen ESP TOPMed
rs267602800 CA218419434	1220	P>S		No	ClinGen Ensembl
rs199499655 CA218419424	1223	E>G		No	ClinGen 1000Genomes TOPMed gnomAD
CA5900718 rs768562791	1224	E>D		No	ClinGen ExAC gnomAD
rs1261965743 CA379761387	1225	Y>F		No	ClinGen TOPMed
rs1353712695 CA379761372	1227	K>R		No	ClinGen TOPMed
CA379761008 rs1358489023	1229	S>L		No	ClinGen gnomAD
CA379760972 rs1425365258	1232	F>S		No	ClinGen TOPMed
TCGA novel	1233	I>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1186223590 CA379760962	1233	I>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs771107957 CA5900697	1234	Y>C		No	ClinGen ExAC gnomAD
rs749558726 CA5900696	1235	S>F		No	ClinGen ExAC gnomAD
CA379760840 rs1420168867	1243	T>I		No	ClinGen gnomAD
CA379760830 rs1590907102	1244	Y>C		No	ClinGen Ensembl
TCGA novel	1251	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs370455275 CA5900693	1251	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA5900692 rs781682781	1255	N>H		No	ClinGen ExAC gnomAD
CA5900691 rs140312144	1255	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1438700912 CA379760724	1256	I>V		No	ClinGen TOPMed gnomAD
rs751271916 CA218417236	1258	L>F		No	ClinGen Ensembl
rs751934889 CA5900690	1259	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA5900689 rs766891920	1259	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs758108148 COSM1220568 CA5900688	1261	T>M	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs761328622 CA5900685	1264	M>I		No	ClinGen ExAC TOPMed gnomAD
CA379760622 rs1378351128	1264	M>T		No	ClinGen TOPMed gnomAD
CA379760583 rs1565241687	1267	I>T		No	ClinGen Ensembl
CA5900684 rs776022719	1267	I>V		No	ClinGen ExAC gnomAD
rs1301262817 CA379760487	1274	G>E		No	ClinGen TOPMed
CA5900682 rs367823609	1274	G>R		No	ClinGen ESP ExAC
rs771915094 CA5900680	1275	H>D		No	ClinGen ExAC gnomAD
CA5900679 rs749470053	1275	H>R		No	ClinGen ExAC TOPMed gnomAD
rs773421321 CA5900678	1276	A>G		No	ClinGen ExAC gnomAD
rs1165766958 CA379760467	1276	A>S		No	ClinGen gnomAD
rs769925864 CA5900677	1278	M>K		No	ClinGen ExAC gnomAD
CA379760404 rs1179511010	1281	S>G		No	ClinGen gnomAD
CA379760398 rs1590906962	1281	S>T		No	ClinGen Ensembl
rs374840811 CA5900676	1282	F>L		No	ClinGen ESP ExAC gnomAD
rs1256538449 CA379760378	1283	K>E		No	ClinGen TOPMed
CA5900675 rs781454305	1283	K>R		No	ClinGen ExAC gnomAD
rs1177146315 CA379760356	1284	R>M	Variant assessed as Somatic; 4.643e-05 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1191464677 CA379760058	1285	D>E		No	ClinGen gnomAD
rs922361996 CA218415236	1286	R>Q		No	ClinGen TOPMed gnomAD
CA5900659 rs200742430	1286	R>W		No	ClinGen 1000Genomes ExAC gnomAD
CA379760051 rs1217299207	1287	A>S		No	ClinGen gnomAD
rs1317461512 CA379760044	1288	P>L		No	ClinGen gnomAD
CA5900657 rs770019192	1293	S>C		No	ClinGen ExAC gnomAD
CA379760012 rs770019192	1293	S>F		No	ClinGen ExAC gnomAD
rs1303833572 CA379760011	1294	D>N		No	ClinGen gnomAD
CA5900656 rs748360915	1301	G>E		No	ClinGen ExAC gnomAD
rs869065907	1303	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA379759911 rs1590904209	1308	R>C		No	ClinGen Ensembl
rs748155846 CA5900654	1308	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1590904189 CA379759854	1316	C>Y		No	ClinGen Ensembl
rs747088360 CA5900653	1318	Q>*		No	ClinGen ExAC gnomAD
TCGA novel	1318	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1321	N>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA379759809 rs1175798199	1322	L>S		No	ClinGen gnomAD
CA5900651 rs780649113	1325	K>R		No	ClinGen ExAC TOPMed gnomAD
CA5900650 rs377699951	1327	T>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs746199635 CA5900649	1328	N>D		No	ClinGen ExAC gnomAD
rs1262417547 CA379759766	1328	N>K		No	ClinGen gnomAD
CA379759769 rs1488309530	1328	N>T		No	ClinGen TOPMed gnomAD
CA5900648 rs779182844	1329	L>F		No	ClinGen ExAC gnomAD
rs756909876 CA5900647	1329	L>R		No	ClinGen ExAC TOPMed gnomAD
CA5900646 rs753543871	1330	F>L		No	ClinGen ExAC gnomAD
rs777264103 CA5900645	1331	L>F		No	ClinGen ExAC TOPMed gnomAD
CA379759750 rs1310666450	1331	L>P		No	ClinGen TOPMed gnomAD
CA5900644 rs755558430	1332	N>S		No	ClinGen ExAC gnomAD
CA5900642 rs752220757	1333	L>H		No	ClinGen ExAC gnomAD
CA5900641 rs767398216	1334	L>V		No	ClinGen ExAC gnomAD
rs755789486 CA5900624	1337	M>I		No	ClinGen ExAC gnomAD
CA5900625 rs767727196	1337	M>T		No	ClinGen ExAC TOPMed gnomAD
CA218414106 rs566042827	1337	M>V		No	ClinGen Ensembl
CA5900623 rs752163337	1338	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1369009799 CA379759620	1341	G>R		No	ClinGen gnomAD
rs780608635 CA218414088	1342	L>I		No	ClinGen ExAC gnomAD
rs780608635 CA5900622	1342	L>V		No	ClinGen ExAC gnomAD
rs754922711 CA5900621	1343	P>A		No	ClinGen ExAC gnomAD
CA379759596 rs754922711	1343	P>S		No	ClinGen ExAC gnomAD
rs1252490061 CA379759586	1344	E>K		No	ClinGen TOPMed gnomAD
rs751511399 CA5900620	1345	L>I		No	ClinGen ExAC gnomAD
rs547531559 CA218414070	1346	T>R		No	ClinGen TOPMed gnomAD
rs143031175 CA5900618	1347	S>G		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	1349	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5900615 rs199602571	1354	V>I		No	ClinGen 1000Genomes ESP ExAC gnomAD
rs754890384 CA218414043	1355	R>T		No	ClinGen Ensembl
CA5900614 rs761013136	1357	A>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1359	Q>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1049684314 CA218414016	1359	Q>H		No	ClinGen Ensembl
rs1446416634 CA379759386	1360	P>L		No	ClinGen gnomAD
rs1269786150 CA379759391	1360	P>S		No	ClinGen TOPMed
TCGA novel	1361	Q>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA379759375 rs1328807518	1361	Q>R		No	ClinGen gnomAD
CA5900613 rs775685710	1363	T>A		No	ClinGen ExAC TOPMed gnomAD
CA5900612 rs200542813	1363	T>I		No	ClinGen 1000Genomes ExAC
CA5900611 rs760081670	1364	D>N		No	ClinGen ExAC TOPMed gnomAD
rs191488721 CA5900609	1365	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA379759301 rs1159030904	1367	A>V		No	ClinGen gnomAD
rs1012657314 CA218413962	1371	F>S		No	ClinGen TOPMed
rs778145800 CA5900607	1372	T>I		No	ClinGen ExAC gnomAD
CA379758660 rs758441334	1377	S>A		No	ClinGen ExAC gnomAD
CA5900598 rs758441334	1377	S>T		No	ClinGen ExAC gnomAD
TCGA novel	1378	S>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA379758639 rs1175281704	1380	G>*		No	ClinGen gnomAD
rs558247880 CA5900596	1380	G>E		No	ClinGen 1000Genomes ExAC gnomAD
rs1565237325 CA379758636	1381	S>R		No	ClinGen Ensembl
rs1423214621 CA379758623	1382	I>T		No	ClinGen Ensembl
rs756387583 RCV001210677 CA5900595	1384	T>A		No	ClinGen ClinVar ExAC dbSNP gnomAD
TCGA novel	1385	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs974633081 CA218412081	1387	N>I		No	ClinGen Ensembl
CA218412088 rs921837610	1387	N>Y		No	ClinGen Ensembl
CA379758553 rs1263972050	1392	N>S		No	ClinGen gnomAD
rs1487590917 CA379758543	1394	A>T		No	ClinGen gnomAD
rs898801485 CA379758522	1397	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA218412066 rs898801485	1397	R>G		No	ClinGen TOPMed gnomAD
CA218412057 rs199919447	1397	R>H		No	ClinGen TOPMed gnomAD
CA5900590 rs766759318	1400	G>D		No	ClinGen ExAC gnomAD
CA5900587 rs577738617	1402	P>T		No	ClinGen 1000Genomes ExAC gnomAD
CA218412027 rs938273771	1403	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs553276138 CA5900586	1405	D>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA379758468 rs553276138	1405	D>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5900585 rs145278083	1407	P>L		No	ClinGen 1000Genomes ESP ExAC gnomAD
rs1442666909 CA379758440	1407	P>S		No	ClinGen gnomAD
CA5900584 rs768375136	1408	I>L		No	ClinGen ExAC TOPMed gnomAD
rs867373383 CA218412024	1409	L>I		No	ClinGen Ensembl
rs983105571 CA218412018	1411	F>L		No	ClinGen Ensembl
CA379758365 rs1401789898	1413	P>L		No	ClinGen gnomAD
rs11604561 VAR_023333 CA5900582	1415	T>A		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA5900580 rs369886156	1416	Y>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5900579 rs778846156	1417	S>C		No	ClinGen ExAC gnomAD
rs1485299242 CA379758305	1418	F>L		No	ClinGen gnomAD
rs757043671 CA5900578	1419	R>I		No	ClinGen ExAC gnomAD
CA218411977 rs780346169	1420	Q>H		No	ClinGen Ensembl
CA218411985 rs868074730	1420	Q>R		No	ClinGen Ensembl
rs1198417539 CA379758254	1421	D>E		No	ClinGen gnomAD
CA5900577 rs753681845	1421	D>G		No	ClinGen ExAC gnomAD
rs1442155911 CA379758264	1421	D>N		No	ClinGen gnomAD
CA5900576 rs767587856	1422	G>V		No	ClinGen ExAC gnomAD
rs867663128 CA218411972	1423	R>*		No	ClinGen Ensembl
rs755260229 CA5900575	1423	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs766499072 CA5900573	1426	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1448637301 CA379758173	1428	S>F		No	ClinGen gnomAD
rs773777843 CA5900571	1432	Y>H		No	ClinGen ExAC
CA5900570 rs765741035	1433	H>R		No	ClinGen ExAC TOPMed gnomAD
rs777081916 CA5900568	1440	K>R		No	ClinGen ExAC TOPMed gnomAD
CA5900548 rs758408505	1443	I>S		No	ClinGen ExAC gnomAD
rs1469213141 CA379757957	1444	Y>S		No	ClinGen TOPMed
CA379757939 rs747073851	1447	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs762419576 CA379757938	1447	R>P		No	ClinGen ExAC TOPMed gnomAD
rs762419576 CA5900545	1447	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA379757928 rs754125796	1449	L>V		No	ClinGen ExAC TOPMed gnomAD
CA5900542 rs760240104	1451	E>G		No	ClinGen ExAC gnomAD
rs764577625 CA5900543	1451	E>K		No	ClinGen ExAC gnomAD
rs771863325 CA5900540	1454	I>M		No	ClinGen ExAC TOPMed gnomAD
CA5900541 rs775215087	1454	I>T		No	ClinGen ExAC gnomAD
CA379757894 rs1348666797	1454	I>V		No	ClinGen gnomAD
rs1380144329 CA379757882	1456	P>T		No	ClinGen gnomAD
CA5900539 rs372262348	1459	V>A		No	ClinGen ESP ExAC gnomAD
rs144399985 CA5900538	1462	T>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA218410001 rs1065446	1464	D>V		No	ClinGen Ensembl
rs940260278 CA218409981 COSM925430	1465	E>K	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA379757792 rs1218758405	1469	L>V		No	ClinGen gnomAD
CA379757779 rs1427352755	1471	N>D		No	ClinGen gnomAD
rs780193486 CA5900532	1475	I>T		No	ClinGen ExAC TOPMed gnomAD
COSM415241 rs747902809 CA5900533	1475	I>V	Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1302180723 CA379757736	1477	F>L		No	ClinGen gnomAD
CA5900531 rs140828463	1481	K>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA379757692 rs1486957977	1483	P>S		No	ClinGen TOPMed
TCGA novel	1484	G>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA379757683 rs1189749033	1484	G>D		No	ClinGen TOPMed
CA5900517 rs150629174	1485	F>L		No	ClinGen ESP ExAC gnomAD
CA379757432 rs1163245809	1487	N>S		No	ClinGen TOPMed
rs773138966 CA5900516	1489	M>I		No	ClinGen ExAC TOPMed gnomAD
rs1565233903 CA379757420	1489	M>V		No	ClinGen Ensembl
CA379757406 rs1437877102	1491	L>V		No	ClinGen TOPMed
rs769634961 CA5900515	1499	V>I		No	ClinGen ExAC gnomAD
TCGA novel	1500	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs973505559 CA218408551	1501	A>T		No	ClinGen Ensembl
rs962468197 CA218408542	1501	A>V		No	ClinGen Ensembl
rs1446246211 CA379757281	1509	S>N		No	ClinGen TOPMed
CA379757278 rs1590891212	1509	S>R		No	ClinGen Ensembl
CA5900513 rs371075151	1515	M>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA5900511 rs772256432	1519	T>M		No	ClinGen ExAC TOPMed gnomAD
rs1403376990 CA379757198	1520	D>E		No	ClinGen gnomAD
CA218408520 rs1018992876	1521	V>I		No	ClinGen TOPMed gnomAD
rs1465656212 CA379757181	1523	E>V		No	ClinGen gnomAD
CA218408461 rs201674940	1524	C>S		No	ClinGen 1000Genomes
rs543313941 CA5900498	1527	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs772622006 CA5900497	1528	C>F		No	ClinGen ExAC TOPMed gnomAD
rs1398999204 CA379757138	1528	C>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA218408452 rs772622006	1528	C>Y		No	ClinGen ExAC TOPMed gnomAD
CA218408440 rs950801296	1536	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA379757082 rs1368913590	1536	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA5900496 rs765187812	1537	D>V		No	ClinGen ExAC gnomAD
CA5900495 rs761785844	1541	E>K		No	ClinGen ExAC TOPMed gnomAD
CA379757041 rs1381915820	1542	G>A		No	ClinGen gnomAD
CA218408438 rs566783342	1542	G>R		No	ClinGen Ensembl
rs1179542197 CA379757037	1543	I>V		No	ClinGen gnomAD
CA5900493 rs199735305	1544	A>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5900494 rs199735305	1544	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1248582949 CA379757026	1545	R>G		No	ClinGen gnomAD
CA5900492 rs746811224	1546	S>F		No	ClinGen ExAC gnomAD
rs1211658689 CA379757019	1546	S>P		No	ClinGen gnomAD
rs1244268753 CA379757010	1547	A>E		No	ClinGen gnomAD
CA379757014 rs1265335350	1547	A>T		No	ClinGen gnomAD
CA379756988 rs773329430	1549	A>G		No	ClinGen ExAC gnomAD
CA5900467 rs148499488	1549	A>T		No	ClinGen ESP ExAC TOPMed
CA5900466 rs773329430	1549	A>V		No	ClinGen ExAC gnomAD
CA379756983 rs1403091605	1550	G>D		No	ClinGen TOPMed gnomAD
rs1403091605 CA379756981	1550	G>V		No	ClinGen TOPMed gnomAD
CA379756947 rs1198575920	1555	T>I		No	ClinGen TOPMed
rs1198575920 CA379756948	1555	T>S		No	ClinGen TOPMed
CA5900464 rs748246990	1561	G>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1561	G>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5900463 rs781743675	1562	A>T		No	ClinGen ExAC gnomAD
rs1174586830 CA379756880	1566	S>T		No	ClinGen TOPMed gnomAD
CA379756879 rs1379715416	1566	S>Y		No	ClinGen TOPMed
rs747362929 CA5900461	1567	I>L		No	ClinGen ExAC gnomAD
CA5900459 rs554808932	1567	I>M		No	ClinGen 1000Genomes ExAC gnomAD
CA379756867 rs1251718190	1568	S>C		No	ClinGen gnomAD
rs1479089848 CA379756856 COSM3791379	1570	R>*	Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA5900457 rs778628990 COSM925428	1570	R>Q	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1193418255 CA379756844	1572	G>R		No	ClinGen gnomAD
CA379756841 rs1590890364	1572	G>V		No	ClinGen Ensembl
rs1479930741 CA379756832	1574	L>V		No	ClinGen gnomAD
rs1281129242 CA379756818	1576	I>V		No	ClinGen gnomAD
rs1201891333 CA379756810	1577	M>V		No	ClinGen TOPMed gnomAD
rs753368022 CA5900455	1582	K>R		No	ClinGen ExAC gnomAD
CA218408045 rs753368022	1582	K>T		No	ClinGen ExAC gnomAD
rs763977292 CA5900454	1583	D>Y		No	ClinGen ExAC gnomAD
rs1470120931 CA379756694	1589	G>R		No	ClinGen TOPMed
CA379756664 rs1176956529	1591	D>Y		No	ClinGen TOPMed
rs780458031 CA5900443	1592	P>A		No	ClinGen ExAC gnomAD
rs772254960 CA5900442	1594	P>S		No	ClinGen ExAC gnomAD
CA218407959 rs1054574143	1596	V>L		No	ClinGen TOPMed
rs778488917 CA5900440	1597	K>R		No	ClinGen ExAC gnomAD
rs1245192619 CA379756557	1598	T>I		No	ClinGen gnomAD
CA379756542 rs1184062618	1599	Y>*		No	ClinGen TOPMed
rs756932202 CA5900439	1599	Y>H		No	ClinGen ExAC
CA5900438 rs753314494	1601	L>P		No	ClinGen ExAC gnomAD
CA5900437 rs199935176	1602	P>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA379756443 rs1449237804	1606	K>E		No	ClinGen gnomAD
rs760437458 CA5900436	1606	K>R		No	ClinGen ExAC TOPMed gnomAD
rs1328257064 CA379756420	1607	T>I		No	ClinGen gnomAD
rs752644701 CA5900435	1610	R>C		No	ClinGen ExAC gnomAD
rs920866232 CA218407899	1614	I>T		No	ClinGen Ensembl
rs1164233386 CA379756308	1616	R>G		No	ClinGen gnomAD
CA5900434 rs767495516 COSM925427	1618	T>M	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA379756268 rs1329100637	1619	R>T		No	ClinGen TOPMed
CA5900432 rs751396589	1621	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs372811959 CA218407892	1622	T>I		No	ClinGen ESP
CA5900430 rs142278050	1624	N>S		No	ClinGen ESP ExAC TOPMed
rs1238261561 CA379756187	1625	E>*		No	ClinGen gnomAD
CA379756167 rs1338697655	1626	M>T		No	ClinGen TOPMed gnomAD
TCGA novel	1626	M>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs188004065 CA5900409	1628	V>L		No	ClinGen 1000Genomes ExAC gnomAD
CA379755409 rs1193640936	1630	S>G		No	ClinGen TOPMed
CA5900408 rs764421662	1630	S>N		No	ClinGen ExAC gnomAD
rs759907263 CA5900407	1632	Y>C		No	ClinGen ExAC gnomAD
rs1275512112 CA379755386	1633	S>I		No	ClinGen gnomAD
TCGA novel	1635	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA218406803 rs577874347	1635	E>D		No	ClinGen 1000Genomes
CA5900406 rs370271506	1640	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA379755290 rs1420637134	1648	S>G		No	ClinGen gnomAD
CA5900404 rs760137029	1649	A>V		No	ClinGen ExAC gnomAD
rs774686194 CA5900403	1652	L>P		No	ClinGen ExAC gnomAD
CA379755259 rs1199436781 COSM2156641	1653	R>Q	central_nervous_system [Cosmic]	No	ClinGen cosmic curated gnomAD
CA5900402 rs771353244	1653	R>W		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1654	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5900400 rs199845096	1660	G>R		No	ClinGen 1000Genomes ExAC gnomAD
CA218406787 rs201880057	1661	V>I		No	ClinGen Ensembl
CA218406786 rs201880057	1661	V>L		No	ClinGen Ensembl
CA218406785 rs998881219	1662	T>S		No	ClinGen Ensembl
CA379755191 rs1486101656	1664	P>A		No	ClinGen gnomAD
CA5900399 rs769511599	1664	P>L		No	ClinGen ExAC gnomAD
CA5900398 rs747576036	1666	K>R		No	ClinGen ExAC gnomAD
rs374090887 CA5900397	1667	D>H		No	ClinGen ESP ExAC gnomAD
TCGA novel	1667	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA379755158 rs1279424077	1669	N>H		No	ClinGen gnomAD
rs139012235 CA5900396	1669	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	1671	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1673	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs747006507 CA5900395	1674	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA379755114 rs1590888190	1675	V>L		No	ClinGen Ensembl
rs1361778476 CA379755095	1677	W>*		No	ClinGen gnomAD
rs1361778476 CA379755094	1677	W>C		No	ClinGen gnomAD
rs1265041141 CA379755088 COSM925426	1678	Y>C	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated Ensembl NCI-TCGA
CA379755077 rs1324323511	1679	Q>H		No	ClinGen TOPMed
rs1287471410 CA379755074	1680	L>R		No	ClinGen gnomAD
rs201133316 CA5900392	1682	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs566921421 CA5900390	1684	T>A		No	ClinGen 1000Genomes ExAC gnomAD
rs756398286 CA5900389	1685	Y>C		No	ClinGen ExAC gnomAD
CA218406766 rs375811749	1685	Y>H		No	ClinGen ESP
rs142316561 CA5900388	1686	L>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD

1 associated diseases with O00443

[MIM: 618440]: Oculoskeletodental syndrome (OCSKD)

An autosomal recessive syndrome characterized by congenital cataracts, short stature, dysmorphic features with coarse facies, dental anomalies, multiple skeletal abnormalities, and neurological manifestations. Other recurrent features include hearing loss, secondary glaucoma, and nephrocalcinosis. {ECO:0000269|PubMed:31034465}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

An autosomal recessive syndrome characterized by congenital cataracts, short stature, dysmorphic features with coarse facies, dental anomalies, multiple skeletal abnormalities, and neurological manifestations. Other recurrent features include hearing loss, secondary glaucoma, and nephrocalcinosis. {ECO:0000269|PubMed:31034465}. Note=The disease is caused by variants affecting the gene represented in this entry.

3 regional properties for O00443

Type	Name	Position	InterPro Accession
domain	Protein kinase domain	68 - 361	IPR000719
active_site	Serine/threonine-protein kinase, active site	186 - 198	IPR008271
binding_site	Protein kinase, ATP binding site	74 - 97	IPR017441

Functions

		Description
EC Number	2.7.1.137	Phosphotransferases with an alcohol group as acceptor
Subcellular Localization	Cell membrane Cytoplasmic vesicle, clathrin-coated vesicle Nucleus Cytoplasm Golgi apparatus, trans-Golgi network	Inserts preferentially into membranes containing PtdIns(4,5)P2 (PubMed:17038310) Associated with RNA-containing structures (PubMed:11606566)
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

11 GO annotations of cellular component

Name	Definition
clathrin-coated vesicle	A vesicle with a coat formed of clathrin connected to the membrane via one of the clathrin adaptor complexes.
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
extracellular exosome	A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm.
intracellular membrane-bounded organelle	Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane.
membrane	A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.
phosphatidylinositol 3-kinase complex	A protein complex capable of phosphatidylinositol 3-kinase activity and containing subunits of any phosphatidylinositol 3-kinase (PI3K) enzyme. These complexes are divided in three classes (called I, II and III) that differ for their presence across taxonomic groups and for the type of their constituents. Catalytic subunits of phosphatidylinositol 3-kinase enzymes are present in all 3 classes; regulatory subunits of phosphatidylinositol 3-kinase enzymes are present in classes I and III; adaptor proteins have been observed in class II complexes and may be present in other classes too.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
trans-Golgi network	The network of interconnected tubular and cisternal structures located within the Golgi apparatus on the side distal to the endoplasmic reticulum, from which secretory vesicles emerge. The trans-Golgi network is important in the later stages of protein secretion where it is thought to play a key role in the sorting and targeting of secreted proteins to the correct destination.
vesicle	Any small, fluid-filled, spherical organelle enclosed by membrane.

9 GO annotations of molecular function

Name	Definition
1-phosphatidylinositol-3-kinase activity	Catalysis of the reaction: 1-phosphatidyl-1D-myo-inositol + ATP = a 1-phosphatidyl-1D-myo-inositol 3-phosphate + ADP + 2 H(+).
1-phosphatidylinositol-4-phosphate 3-kinase activity	Catalysis of the reaction: 1-phosphatidyl-1D-myo-inositol 4-phosphate + ATP = 1-phosphatidyl-1D-myo-inositol 3,4-bisphosphate + ADP + 2 H(+).
ATP binding	Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
clathrin binding	Binding to a clathrin heavy or light chain, the main components of the coat of coated vesicles and coated pits, and which also occurs in synaptic vesicles.
phosphatidylinositol 3-kinase activity	Catalysis of the reaction: ATP + a phosphatidylinositol = ADP + a phosphatidylinositol 3-phosphate. This reaction is the addition of a phosphate group to phosphatidylinositol or one of its phosphorylated derivatives at the 3' position of the inositol ring.
phosphatidylinositol binding	Binding to an inositol-containing glycerophospholipid, i.e. phosphatidylinositol (PtdIns) and its phosphorylated derivatives.
phosphatidylinositol kinase activity	Catalysis of the reaction: ATP + a phosphatidylinositol = ADP + a phosphatidylinositol phosphate.
phosphatidylinositol-3,4-bisphosphate 5-kinase activity	Catalysis of the reaction: 1-phosphatidyl-1D-myo-inositol 3,4-bisphosphate + ATP = a 1-phosphatidyl-1D-myo-inositol 3,4,5-trisphosphate + ADP + 2 H(+).
phosphatidylinositol-4,5-bisphosphate 3-kinase activity	Catalysis of the reaction: 1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate + ATP = a 1-phosphatidyl-1D-myo-inositol 3,4,5-trisphosphate + ADP + 2 H(+).

17 GO annotations of biological process

Name	Definition
cell migration	The controlled self-propelled movement of a cell from one site to a destination guided by molecular cues. Cell migration is a central process in the development and maintenance of multicellular organisms.
clathrin coat assembly	The process that results in the assembly of clathrin triskelia into the ordered structure known as a clathrin cage.
endocytosis	A vesicle-mediated transport process in which cells take up external materials or membrane constituents by the invagination of a small region of the plasma membrane to form a new membrane-bounded vesicle.
epidermal growth factor receptor signaling pathway	The series of molecular signals initiated by binding of a ligand to the tyrosine kinase receptor EGFR (ERBB1) on the surface of a cell. The pathway ends with regulation of a downstream cellular process, e.g. transcription.
exocytosis	A process of secretion by a cell that results in the release of intracellular molecules (e.g. hormones, matrix proteins) contained within a membrane-bounded vesicle. Exocytosis can occur either by full fusion, when the vesicle collapses into the plasma membrane, or by a kiss-and-run mechanism that involves the formation of a transient contact, a pore, between a granule (for exemple of chromaffin cells) and the plasma membrane. The latter process most of the time leads to only partial secretion of the granule content. Exocytosis begins with steps that prepare vesicles for fusion with the membrane (tethering and docking) and ends when molecules are secreted from the cell.
insulin receptor signaling pathway	The series of molecular signals generated as a consequence of the insulin receptor binding to insulin.
membrane organization	A process which results in the assembly, arrangement of constituent parts, or disassembly of a membrane. A membrane is a double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins.
phosphatidylinositol 3-kinase signaling	A series of reactions within the signal-receiving cell, mediated by the intracellular phosphatidylinositol 3-kinase (PI3K). Many cell surface receptor linked signaling pathways signal through PI3K to regulate numerous cellular functions.
phosphatidylinositol biosynthetic process	The chemical reactions and pathways resulting in the formation of phosphatidylinositol, any glycophospholipid in which the sn-glycerol 3-phosphate residue is esterified to the 1-hydroxyl group of 1D-myo-inositol.
phosphatidylinositol phosphate biosynthetic process	The chemical reactions and pathways resulting in the formation of phosphatidylinositol phosphate.
phosphatidylinositol-3-phosphate biosynthetic process	The chemical reactions and pathways resulting in the formation of phosphatidylinositol-3-phosphate, a phosphatidylinositol monophosphate carrying the phosphate group at the 3-position.
phosphatidylinositol-mediated signaling	The series of molecular signals in which a cell uses a phosphatidylinositol-mediated signaling to convert a signal into a response. Phosphatidylinositols include phosphatidylinositol (PtdIns) and its phosphorylated derivatives.
phosphorylation	The process of introducing a phosphate group into a molecule, usually with the formation of a phosphoric ester, a phosphoric anhydride or a phosphoric amide.
platelet-derived growth factor receptor signaling pathway	The series of molecular signals initiated by a ligand binding to a platelet-derived growth factor receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription.
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 cell migration involved in sprouting angiogenesis	Any process that increases the frequency, rate or extent of cell migration involved in sprouting angiogenesis. Cell migration involved in sprouting angiogenesis is the orderly movement of endothelial cells into the extracellular matrix in order to form new blood vessels contributing to the process of sprouting angiogenesis.
vascular associated smooth muscle contraction	A process, occurring in the vascular tissue, whereby actin/myosin complex activity generates force through ATP hydrolysis resulting in a change in smooth muscle geometry. This process is always coupled to chemo-mechanical energy conversion.

11 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
A1X283	SH3PXD2B	SH3 and PX domain-containing protein 2B	Homo sapiens (Human)	EV
Q5TCZ1	SH3PXD2A	SH3 and PX domain-containing protein 2A	Homo sapiens (Human)	SS
Q9UBF8	PI4KB	Phosphatidylinositol 4-kinase beta	Homo sapiens (Human)	PR
P42356	PI4KA	Phosphatidylinositol 4-kinase alpha	Homo sapiens (Human)	PR
P48736	PIK3CG	Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit gamma isoform	Homo sapiens (Human)	PR
P42336	PIK3CA	Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform	Homo sapiens (Human)	PR
P42338	PIK3CB	Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit beta isoform	Homo sapiens (Human)	PR
O00329	PIK3CD	Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit delta isoform	Homo sapiens (Human)	PR
A2AAY5	Sh3pxd2b	SH3 and PX domain-containing protein 2B	Mus musculus (Mouse)	SS
O89032	Sh3pxd2a	SH3 and PX domain-containing protein 2A	Mus musculus (Mouse)	SS
Q61194	Pik3c2a	Phosphatidylinositol 4-phosphate 3-kinase C2 domain-containing subunit alpha	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MAQISSNSGF	KECPSSHPEP	TRAKDVDKEE	ALQMEAEALA	KLQKDRQVTD	NQRGFELSSS
70	80	90	100	110	120
TRKKAQVYNK	QDYDLMVFPE	SDSQKRALDI	DVEKLTQAEL	EKLLLDDSFE	TKKTPVLPVT
130	140	150	160	170	180
PILSPSFSAQ	LYFRPTIQRG	QWPPGLPGPS	TYALPSIYPS	TYSKQAAFQN	GFNPRMPTFP
190	200	210	220	230	240
STEPIYLSLP	GQSPYFSYPL	TPATPFHPQG	SLPIYRPVVS	TDMAKLFDKI	ASTSEFLKNG
250	260	270	280	290	300
KARTDLEITD	SKVSNLQVSP	KSEDISKFDW	LDLDPLSKPK	VDNVEVLDHE	EEKNVSSLLA
310	320	330	340	350	360
KDPWDAVLLE	ERSTANCHLE	RKVNGKSLSV	ATVTRSQSLN	IRTTQLAKAQ	GHISQKDPNG
370	380	390	400	410	420
TSSLPTGSSL	LQEVEVQNEE	MAAFCRSITK	LKTKFPYTNH	RTNPGYLLSP	VTAQRNICGE
430	440	450	460	470	480
NASVKVSIDI	EGFQLPVTFT	CDVSSTVEII	IMQALCWVHD	DLNQVDVGSY	VLKVCGQEEV
490	500	510	520	530	540
LQNNHCLGSH	EHIQNCRKWD	TEIRLQLLTF	SAMCQNLART	AEDDETPVDL	NKHLYQIEKP
550	560	570	580	590	600
CKEAMTRHPV	EELLDSYHNQ	VELALQIENQ	HRAVDQVIKA	VRKICSALDG	VETLAITESV
610	620	630	640	650	660
KKLKRAVNLP	RSKTADVTSL	FGGEDTSRSS	TRGSLNPENP	VQVSINQLTA	AIYDLLRLHA
670	680	690	700	710	720
NSGRSPTDCA	QSSKSVKEAW	TTTEQLQFTI	FAAHGISSNW	VSNYEKYYLI	CSLSHNGKDL
730	740	750	760	770	780
FKPIQSKKVG	TYKNFFYLIK	WDELIIFPIQ	ISQLPLESVL	HLTLFGILNQ	SSGSSPDSNK
790	800	810	820	830	840
QRKGPEALGK	VSLPLFDFKR	FLTCGTKLLY	LWTSSHTNSV	PGTVTKKGYV	MERIVLQVDF
850	860	870	880	890	900
PSPAFDIIYT	TPQVDRSIIQ	QHNLETLEND	IKGKLLDILH	KDSSLGLSKE	DKAFLWEKRY
910	920	930	940	950	960
YCFKHPNCLP	KILASAPNWK	WVNLAKTYSL	LHQWPALYPL	IALELLDSKF	ADQEVRSLAV
970	980	990	1000	1010	1020
TWIEAISDDE	LTDLLPQFVQ	ALKYEIYLNS	SLVQFLLSRA	LGNIQIAHNL	YWLLKDALHD
1030	1040	1050	1060	1070	1080
VQFSTRYEHV	LGALLSVGGK	RLREELLKQT	KLVQLLGGVA	EKVRQASGSA	RQVVLQRSME
1090	1100	1110	1120	1130	1140
RVQSFFQKNK	CRLPLKPSLV	AKELNIKSCS	FFSSNAVPLK	VTMVNADPMG	EEINVMFKVG
1150	1160	1170	1180	1190	1200
EDLRQDMLAL	QMIKIMDKIW	LKEGLDLRMV	IFKCLSTGRD	RGMVELVPAS	DTLRKIQVEY
1210	1220	1230	1240	1250	1260
GVTGSFKDKP	LAEWLRKYNP	SEEEYEKASE	NFIYSCAGCC	VATYVLGICD	RHNDNIMLRS
1270	1280	1290	1300	1310	1320
TGHMFHIDFG	KFLGHAQMFG	SFKRDRAPFV	LTSDMAYVIN	GGEKPTIRFQ	LFVDLCCQAY
1330	1340	1350	1360	1370	1380
NLIRKQTNLF	LNLLSLMIPS	GLPELTSIQD	LKYVRDALQP	QTTDAEATIF	FTRLIESSLG
1390	1400	1410	1420	1430	1440
SIATKFNFFI	HNLAQLRFSG	LPSNDEPILS	FSPKTYSFRQ	DGRIKEVSVF	TYHKKYNPDK
1450	1460	1470	1480	1490	1500
HYIYVVRILR	EGQIEPSFVF	RTFDEFQELH	NKLSIIFPLW	KLPGFPNRMV	LGRTHIKDVA
1510	1520	1530	1540	1550	1560
AKRKIELNSY	LQSLMNASTD	VAECDLVCTF	FHPLLRDEKA	EGIARSADAG	SFSPTPGQIG
1570	1580	1590	1600	1610	1620
GAVKLSISYR	NGTLFIMVMH	IKDLVTEDGA	DPNPYVKTYL	LPDNHKTSKR	KTKISRKTRN
1630	1640	1650	1660	1670	1680
PTFNEMLVYS	GYSKETLRQR	ELQLSVLSAE	SLRENFFLGG	VTLPLKDFNL	SKETVKWYQL

TAATYL