AiPD: Autoinhibited Protein Database

P40145

Gene name	ADCY8
Protein name	Adenylate cyclase type 8
Names	ATP pyrophosphate-lyase 8, Adenylate cyclase type VIII, Adenylyl cyclase 8, AC8, Ca(2+)/calmodulin-activated adenylyl cyclase
Species	Homo sapiens (Human)
KEGG Pathway	hsa:114
EC number	4.6.1.1: Phosphorus-oxygen lyases
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

No accessory elements

References

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

Autoinhibited structure

Activated structure

1 structures for P40145

Entry ID	Method	Resolution	Chain	Position	Source
AF-P40145-F1	Predicted				AlphaFoldDB

994 variants for P40145

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs748561674 CA372289440	5	D>E		No	ClinGen ExAC TOPMed gnomAD
CA4878596 rs566810608	5	D>N		No	ClinGen 1000Genomes ExAC gnomAD
rs566810608 CA186107308	5	D>Y		No	ClinGen 1000Genomes ExAC gnomAD
rs1403776150 CA372289432	7	R>C		No	ClinGen gnomAD
CA372289429 rs866174887	7	R>H		No	ClinGen gnomAD
rs866174887 CA186107307	7	R>L		No	ClinGen gnomAD
CA4878594 rs779554799	8	C>Y		No	ClinGen ExAC gnomAD
CA4878593 rs755604334	9	L>F		No	ClinGen ExAC gnomAD
CA372289420 rs755604334	9	L>V		No	ClinGen ExAC gnomAD
rs1176296076 CA372289410	10	T>I		No	ClinGen TOPMed gnomAD
CA372289394 rs1253042362	13	E>Q		No	ClinGen gnomAD
rs1189098161 CA372289390	13	E>V		No	ClinGen TOPMed
CA4878592 rs547384867	16	Y>C		No	ClinGen 1000Genomes ExAC gnomAD
rs1040685528 CA186107305	16	Y>H		No	ClinGen Ensembl
rs756252913 CA4878591	17	T>N		No	ClinGen ExAC TOPMed gnomAD
CA372289367 rs1586679780	17	T>P		No	ClinGen Ensembl
CA4878590 rs756252913	17	T>S		No	ClinGen ExAC TOPMed gnomAD
CA4878589 rs750563461	18	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1586679748 CA372289354	19	H>P		No	ClinGen Ensembl
rs1006716734 CA372289350	19	H>Q		No	ClinGen TOPMed gnomAD
TCGA novel	19	H>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA372289355 rs1586679753	19	H>Y		No	ClinGen Ensembl
CA372289345 rs761567285	20	P>L		No	ClinGen ExAC TOPMed gnomAD
CA4878587 rs761567285	20	P>Q		No	ClinGen ExAC TOPMed gnomAD
rs751424465 CA4878586	21	T>K		No	ClinGen ExAC gnomAD
rs751424465 CA372289340	21	T>M		No	ClinGen ExAC gnomAD
CA372289336 rs1454904086	22	P>H		No	ClinGen Ensembl
CA4878585 rs763889233	22	P>S		No	ClinGen ExAC TOPMed gnomAD
CA4878584 rs561960444	23	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1157897604 CA372289326	24	A>D		No	ClinGen TOPMed gnomAD
rs759131268 CA4878581	25	G>D		No	ClinGen ExAC TOPMed gnomAD
rs764602731 CA4878582	25	G>S		No	ClinGen ExAC TOPMed gnomAD
CA372289314 rs1586679655	26	D>V		No	ClinGen Ensembl
rs770681340 CA372289311	27	G>C		No	ClinGen ExAC TOPMed gnomAD
CA372289310 rs1171419310	27	G>D		No	ClinGen gnomAD
rs770681340 CA4878580	27	G>R		No	ClinGen ExAC TOPMed gnomAD
rs770681340 CA4878579	27	G>S		No	ClinGen ExAC TOPMed gnomAD
rs550028353 CA4878577	29	S>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4878576 rs531517274	30	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4878575 rs749777871	31	S>P		No	ClinGen ExAC gnomAD
CA186107303 rs894141968	32	R>G		No	ClinGen TOPMed gnomAD
rs756126755 CA4878573	33	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs756126755 CA372289277	33	P>Q		No	ClinGen ExAC TOPMed gnomAD
CA4878574 rs780633874	33	P>S		No	ClinGen ExAC
rs1218207885 CA372289264	35	R>P		No	ClinGen gnomAD
rs1415946149 CA372289231	40	T>R		No	ClinGen gnomAD
rs763836127 CA4878568	44	H>N		No	ClinGen ExAC TOPMed gnomAD
CA4878567 rs758211642	45	I>N		No	ClinGen ExAC TOPMed gnomAD
CA4878565 rs765257075	46	T>M		No	ClinGen ExAC gnomAD
rs752550729 CA4878566	46	T>P		No	ClinGen ExAC gnomAD
TCGA novel	47	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA372289175 rs1236811169	49	R>P		No	ClinGen TOPMed gnomAD
rs1164122439 CA372289179	49	R>S		No	ClinGen TOPMed
CA372289153 rs1426718755	52	H>L		No	ClinGen TOPMed
CA4878563 rs765822672 CA4878564	53	G>R		No	ClinGen ExAC gnomAD
CA4878562 rs765822672	53	G>W		No	ClinGen ExAC gnomAD
rs1009420520 CA186107298	55	R>W		No	ClinGen TOPMed gnomAD
CA372289126 rs1234273763	57	G>D		No	ClinGen gnomAD
CA186107297 rs976315149	58	S>N		No	ClinGen TOPMed gnomAD
CA372289118 rs1282907770	58	S>R		No	ClinGen TOPMed gnomAD
rs1355793839 CA372289113	59	G>D		No	ClinGen gnomAD
rs1444939698 CA372289115	59	G>S		No	ClinGen gnomAD
CA4878561 rs201251288	60	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA372289100 rs1450509856	61	G>E		No	ClinGen gnomAD
CA372289094 rs1340822364	62	S>N		No	ClinGen gnomAD
TCGA novel	63	G>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	64	G>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4878560 rs773033725	65	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA372289074 rs773033725	65	S>W		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	67	K>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA372289052 rs993764645	69	S>P		No	ClinGen TOPMed gnomAD
CA186107293 rs993764645	69	S>T		No	ClinGen TOPMed gnomAD
CA372289048 rs1180070083	69	S>W		No	ClinGen gnomAD
CA372289041 rs1385924589	70	D>E		No	ClinGen TOPMed
rs571946527 CA4878557	71	P>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA372289038 rs571946527	71	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1040715439 CA186107292	72	A>E		No	ClinGen TOPMed gnomAD
CA372289033 rs1233532069	72	A>T		No	ClinGen gnomAD
TCGA novel	72	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1456658274 CA372289027	73	G>D		No	ClinGen gnomAD
CA186107291 rs1024215421	73	G>S		No	ClinGen TOPMed
CA372289024 rs1214746014	74	G>S		No	ClinGen gnomAD
rs1225988308 CA372289015	75	G>D		No	ClinGen gnomAD
rs1288106377 CA372289018	75	G>S		No	ClinGen gnomAD
rs1374600672 CA372289012	76	P>T		No	ClinGen gnomAD
rs1301815884 CA372289003	77	N>T		No	ClinGen TOPMed
CA372288994 rs1586679230	78	H>P		No	ClinGen Ensembl
CA372288988 rs1382883770	79	H>N		No	ClinGen TOPMed
rs1327537982 CA372288984	79	H>Q		No	ClinGen TOPMed gnomAD
CA372288982 rs2228949	80	A>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs2228949 VAR_029188 CA4878554	80	A>T		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1214947021 CA372288978	80	A>V		No	ClinGen TOPMed
CA372288972 rs1162355080	81	P>L		No	ClinGen gnomAD
rs34377898 CA186107290	83	L>G		No	ClinGen Ensembl
rs1462695998 CA372288961	83	L>P		No	ClinGen TOPMed
CA4878550 rs778018848	83	L>V		No	ClinGen ExAC TOPMed gnomAD
rs778700013 CA4878547	86	D>N		No	ClinGen ExAC gnomAD
rs778700013 CA4878546	86	D>Y		No	ClinGen ExAC gnomAD
rs1245348649 CA372288938	87	S>L		No	ClinGen TOPMed gnomAD
rs754884849 CA4878545	90	P>L		No	ClinGen ExAC TOPMed gnomAD
CA372288924 rs1318110781	90	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA4878544 rs753725728	91	L>P		No	ClinGen ExAC gnomAD
CA372288911 rs999968249	92	Y>C		No	ClinGen TOPMed gnomAD
rs999968249 CA186107289	92	Y>F		No	ClinGen TOPMed gnomAD
rs1037873832 CA186107288	93	S>L		No	ClinGen TOPMed gnomAD
CA372288903 rs1037873832	93	S>W		No	ClinGen TOPMed gnomAD
CA372288901 rs1041454790	94	L>V		No	ClinGen TOPMed gnomAD
CA4878543 rs541460563	96	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs541460563 CA372288887	96	P>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs945561581 CA186107286	97	G>V		No	ClinGen TOPMed gnomAD
rs868529206 CA186107285	98	E>D		No	ClinGen Ensembl
CA4878542 rs372280558	99	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4878541 rs201806626	100	A>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA372288870 rs201806626	100	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs201806626 CA4878540	100	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	101	H>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1396979568 CA372288855	102	S>N		No	ClinGen gnomAD
CA372288849 rs1456625838	103	T>A		No	ClinGen TOPMed gnomAD
rs763224121 CA4878539	103	T>S		No	ClinGen ExAC gnomAD
CA372288840 rs1423311206	104	C>F		No	ClinGen gnomAD
CA186107284 rs910572357	105	G>R		No	ClinGen TOPMed gnomAD
CA372288837 rs910572357	105	G>S		No	ClinGen TOPMed gnomAD
rs375176511 CA4878537	110	P>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA186107283 rs985165482	110	P>T		No	ClinGen TOPMed
CA4878535 rs777025629	112	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs770975076 CA372288790	112	R>H		No	ClinGen ExAC TOPMed gnomAD
CA4878534 rs770975076	112	R>P		No	ClinGen ExAC TOPMed gnomAD
CA4878533 rs747127534	113	S>C		No	ClinGen ExAC gnomAD
TCGA novel	113	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA372288780 rs1340916599	114	G>R		No	ClinGen gnomAD
rs761355331 CA4878530	115	S>N		No	ClinGen ExAC TOPMed gnomAD
rs754763494 CA4878529	116	G>C		No	ClinGen ExAC TOPMed gnomAD
rs754763494 CA372288768	116	G>R		No	ClinGen ExAC TOPMed gnomAD
rs754763494 CA4878528	116	G>S		No	ClinGen ExAC TOPMed gnomAD
rs753763569 CA4878527	117	S>R		No	ClinGen ExAC gnomAD
rs868189978 CA186107281	120	G>C		No	ClinGen Ensembl
TCGA novel	120	G>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1191952732 CA372288722	123	G>D		No	ClinGen gnomAD
rs576996500 CA4878524	123	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4878522 rs761473736	124	G>E		No	ClinGen ExAC gnomAD
CA4878523 rs767267842	124	G>W		No	ClinGen ExAC TOPMed gnomAD
rs1032160440 TCGA novel CA186107280	125	G>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen TOPMed gnomAD
rs1032160440 CA372288712	125	G>D		No	ClinGen TOPMed gnomAD
rs1318089780 CA372288709	126	D>N		No	ClinGen gnomAD
CA372288702 rs1277400152	127	L>M		No	ClinGen TOPMed gnomAD
rs1165853381 CA372288690	129	F>L		No	ClinGen TOPMed gnomAD
rs1313305636 CA372288680	130	L>P		No	ClinGen TOPMed gnomAD
rs759866296 CA4878519	131	H>N		No	ClinGen ExAC gnomAD
rs1470221172 CA372288663	133	D>Y		No	ClinGen TOPMed
rs1299896083 CA372288647	135	A>S		No	ClinGen gnomAD
rs1466400003 CA372288645	135	A>V		No	ClinGen gnomAD
CA186107278 rs906181327	136	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs958592363 CA186107277	139	S>*		No	ClinGen TOPMed gnomAD
CA372288618 rs958592363	139	S>L		No	ClinGen TOPMed gnomAD
rs771490152 CA372288614	140	D>G		No	ClinGen ExAC gnomAD
rs771490152 CA4878517	140	D>V		No	ClinGen ExAC gnomAD
CA186107276 rs867019467	143	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
TCGA novel	143	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	143	L>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA372288581 rs1367206133	145	G>R		No	ClinGen TOPMed
rs772046627 CA372288574	146	G>C		No	ClinGen ExAC TOPMed gnomAD
CA4878514 rs772046627	146	G>S		No	ClinGen ExAC TOPMed gnomAD
CA4878513 rs748364181	147	Y>H		No	ClinGen ExAC gnomAD
rs1179965023 CA372288563	148	S>R		No	ClinGen gnomAD
CA372288557 rs1457979143	148	S>R		No	ClinGen gnomAD
rs1287628143 CA372288534	152	V>F		No	ClinGen TOPMed
CA4878512 rs779029189	153	I>L		No	ClinGen ExAC gnomAD
CA186107275 rs879105535	154	F>L		No	ClinGen TOPMed gnomAD
TCGA novel	155	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4878511 rs534259239	156	T>S		No	ClinGen 1000Genomes ExAC gnomAD
CA372288500 rs780136130 COSM1454865	158	R>C	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA4878509 rs780136130	158	R>S		No	ClinGen ExAC TOPMed gnomAD
rs1000299030 CA186107274	159	N>S		No	ClinGen TOPMed
CA4878507 rs745815665	160	S>F		No	ClinGen ExAC gnomAD
rs756179111 CA4878508	160	S>P		No	ClinGen ExAC gnomAD
CA372288482 rs1563779010	161	F>Y		No	ClinGen Ensembl
rs756739239 CA372288466	163	S>C		No	ClinGen ExAC TOPMed gnomAD
rs756739239 CA4878505	163	S>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA372288462 rs1443310833	164	R>Q		No	ClinGen gnomAD
CA372288458 rs1391916279	165	D>N		No	ClinGen gnomAD
CA4878502 rs755362129 CA4878504	166	L>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA186107273 rs1020495087	166	L>S		No	ClinGen TOPMed
TCGA novel	168	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs754255491 CA4878501	168	R>H		No	ClinGen ExAC gnomAD
CA186107272 rs754255491	168	R>L		No	ClinGen ExAC gnomAD
CA372288415 rs1366042810	171	Q>H		No	ClinGen gnomAD
CA372288412 rs1159983311	172	R>C		No	ClinGen gnomAD
CA4878500 rs766740204	172	R>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1159983311 CA372288411	172	R>S		No	ClinGen gnomAD
CA4878499 rs144119269	176	G>C		No	ClinGen 1000Genomes ESP ExAC TOPMed
rs1176410001 CA372288382	176	G>D		No	ClinGen gnomAD
rs144119269 CA186107271	176	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed
COSM1182043 CA4878498 rs773742788	179	R>C	lung Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1443703335 CA372288360	180	K>E		No	ClinGen TOPMed
CA4878496 rs761852255	180	K>N		No	ClinGen ExAC gnomAD
rs767587624 CA4878497	180	K>T		No	ClinGen ExAC TOPMed gnomAD
rs1354226768 CA372288346	182	E>A		No	ClinGen gnomAD
TCGA novel	182	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1007898263 CA186107270	183	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs774605179 CA4878495	183	V>M		No	ClinGen ExAC gnomAD
CA372288336 rs1353110463	184	V>E		No	ClinGen gnomAD
CA4878493 rs749082190	184	V>L		No	ClinGen ExAC TOPMed gnomAD
CA4878494 rs749082190	184	V>M		No	ClinGen ExAC TOPMed gnomAD
CA4878492 rs554994778 CA372288316	187	V>L		No	ClinGen 1000Genomes ExAC gnomAD
CA372288315 rs554994778 COSM3382119	187	V>M	pancreas [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC gnomAD
rs1235698883 CA372288311	188	L>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA372288300 rs1331892574	189	D>E		No	ClinGen gnomAD
CA4878491 rs545194661	190	V>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	193	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	195	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4878489 rs781325459	195	T>I		No	ClinGen ExAC TOPMed gnomAD
rs746562558 CA4878487	199	L>P		No	ClinGen ExAC TOPMed gnomAD
rs1317454401 CA372288236	200	H>R		No	ClinGen TOPMed
TCGA novel	200	H>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4878484 rs752349474	204	A>D		No	ClinGen ExAC TOPMed gnomAD
CA4878485 rs75246765	204	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs752349474 CA372288209	204	A>V		No	ClinGen ExAC TOPMed gnomAD
rs74845091 CA4878481	206	A>T		No	ClinGen ExAC gnomAD
rs926711426 CA372288196	207	P>A		No	ClinGen TOPMed
CA4878479 rs761952297	207	P>H		No	ClinGen ExAC TOPMed gnomAD
CA4878480 rs761952297	207	P>L		No	ClinGen ExAC TOPMed gnomAD
rs926711426 CA186107267	207	P>T		No	ClinGen TOPMed
rs76847181 CA4878477	208	M>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA372288192 rs1222785838	208	M>T		No	ClinGen gnomAD
rs76847181 CA4878476	208	M>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4878475 rs775875725	209	D>E		No	ClinGen ExAC TOPMed gnomAD
rs776939154 CA4878474	210	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs776939154 CA372288176	210	P>R		No	ClinGen ExAC gnomAD
rs1346040583 CA372288179	210	P>T		No	ClinGen gnomAD
CA4878473 rs745695030	211	L>F		No	ClinGen ExAC TOPMed gnomAD
rs930677785 CA186107265	217	G>S		No	ClinGen TOPMed
CA4878471 rs75006899	220	T>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4878470 rs551993419	220	T>I		No	ClinGen 1000Genomes ExAC gnomAD
rs777078912 CA4878469	221	G>S		No	ClinGen ExAC TOPMed gnomAD
CA4878467 rs747752786	222	I>M		No	ClinGen ExAC
rs1402238883 CA372288092	224	V>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1405199632 CA372288095	224	V>I		No	ClinGen TOPMed
rs1453510545 CA372288089	225	V>M		No	ClinGen TOPMed
CA186107263 rs950099089	226	I>M		No	ClinGen TOPMed
CA186107262 rs532904783	230	V>M		No	ClinGen gnomAD
rs1194114716 CA372288049	231	V>A		No	ClinGen gnomAD
rs1363304398 CA372288052	231	V>L		No	ClinGen TOPMed
CA372288047 rs1296826906	232	V>I		No	ClinGen TOPMed
CA372288030 rs1328834865	234	K>R		No	ClinGen gnomAD
CA372288017 rs1477490045	236	T>A		No	ClinGen gnomAD
rs1563778652 CA372288004	238	S>A		No	ClinGen Ensembl
rs756440138 CA372287989	240	T>K		No	ClinGen ExAC TOPMed gnomAD
rs756440138 CA4878465	240	T>R		No	ClinGen ExAC TOPMed gnomAD
CA372287959 rs1263089078	244	Y>*		No	ClinGen TOPMed
rs1277944225 CA372287958	245	S>R		No	ClinGen gnomAD
rs1198962307 CA372287945	246	G>D		No	ClinGen gnomAD
rs781717717 COSM3395105 CA4878463	247	V>M	pancreas [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1586677943 CA372287931	249	T>P		No	ClinGen Ensembl
CA4878461 rs74844713	249	T>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs951162921 CA186107260	250	W>C		No	ClinGen TOPMed
rs779372430 CA186107259	251	V>A		No	ClinGen Ensembl
rs763172694 CA4878460	251	V>L		No	ClinGen ExAC gnomAD
CA4878459 rs763172694	251	V>M		No	ClinGen ExAC gnomAD
CA4878458 rs752932655	252	A>S		No	ClinGen ExAC gnomAD
TCGA novel CA372287906 rs1340560408	253	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen TOPMed gnomAD NCI-TCGA
rs765618840 COSM3663566 CA4878457	255	T>A	liver [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA4878456 rs759387076	255	T>I		No	ClinGen ExAC gnomAD
CA372287895 rs759387076	255	T>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA4878454 rs770763429	256	Q>K		No	ClinGen ExAC gnomAD
CA372287876 rs1464882013	258	L>P		No	ClinGen gnomAD
CA4878452 rs375219295	259	A>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs375219295 CA372287871	259	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	259	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4878449 rs371846387	260	A>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA186107256 rs371846387	260	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA4878451 rs529610958	260	A>S		No	ClinGen 1000Genomes ExAC gnomAD
CA4878450 rs371846387	260	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1459296259 CA372287865	261	G>D		No	ClinGen gnomAD
CA4878448 rs367613298	261	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
COSM1700635 CA372287853 rs1198200451	263	G>D	Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs781347747 CA4878446	264	Y>C		No	ClinGen ExAC gnomAD
CA186107254 rs905326364	265	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs1002374680 CA186107255	265	G>W		No	ClinGen TOPMed gnomAD
CA372287838 rs7815654	266	L>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs7815654 CA4878445	266	L>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA372287829 rs1449811232	268	G>S		No	ClinGen gnomAD
CA372287820 rs1331657424	269	D>G		No	ClinGen gnomAD
CA4878443 rs201439578 COSM1700634	269	D>N	skin [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC gnomAD
rs868715058 CA186107252	270	G>D		No	ClinGen gnomAD
COSM3317412 rs758543884 CA4878442	270	G>S	pancreas [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA372287813 rs868715058	270	G>V		No	ClinGen gnomAD
rs758890305 CA186107251	271	I>L		No	ClinGen Ensembl
CA372287809 rs1282973433	271	I>T		No	ClinGen TOPMed
CA4878441 rs752877479	273	Y>*		No	ClinGen ExAC TOPMed gnomAD
rs1346755693 CA372287796	273	Y>C		No	ClinGen TOPMed
rs759764188 CA4878439	274	V>E		No	ClinGen ExAC gnomAD
rs759764188 CA372287791	274	V>G		No	ClinGen ExAC gnomAD
TCGA novel CA4878440 rs748241730	274	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen ExAC TOPMed gnomAD
rs748241730 CA372287793	274	V>M		No	ClinGen ExAC TOPMed gnomAD
CA372287784 rs1314590235	275	L>R		No	ClinGen TOPMed
rs779150935 CA4878438	277	T>M		No	ClinGen ExAC TOPMed gnomAD
CA4878436 rs760568545	280	A>D		No	ClinGen ExAC gnomAD
rs377243453 COSM1454860 CA4878437	280	A>T	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA4878435 rs772993294	283	S>G		No	ClinGen ExAC TOPMed gnomAD
CA372287738 rs772993294	283	S>R		No	ClinGen ExAC TOPMed gnomAD
rs140863296 CA4878434	287	L>R		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	289	L>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA372287690 rs1370708931	290	T>I		No	ClinGen TOPMed gnomAD
CA372287695 rs1409919016	290	T>P		No	ClinGen TOPMed
CA372287691 rs1370708931	290	T>S		No	ClinGen TOPMed gnomAD
rs1347190706 CA372287682	291	W>C		No	ClinGen TOPMed
rs1295118403 CA372287680	292	A>T		No	ClinGen TOPMed gnomAD
rs965094308 CA186107248	293	I>F		No	ClinGen TOPMed gnomAD
rs199902296 CA4878431	293	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA372287674 rs965094308	293	I>V		No	ClinGen TOPMed gnomAD
rs775232724 CA4878429	295	A>V		No	ClinGen ExAC gnomAD
CA372287658 rs747470923	296	G>C		No	ClinGen ExAC TOPMed gnomAD
rs747470923 CA4878427	296	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1307016280 CA372287655	296	G>V		No	ClinGen TOPMed
rs1417621416 CA372287638	299	T>I		No	ClinGen gnomAD
rs778408657 CA372287633	300	S>L		No	ClinGen ExAC TOPMed gnomAD
rs778408657 CA4878426	300	S>W		No	ClinGen ExAC TOPMed gnomAD
rs1310281245 CA372287624	302	L>P		No	ClinGen TOPMed gnomAD
CA372287610 rs1477925255	304	V>A		No	ClinGen TOPMed gnomAD
TCGA novel	304	V>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA372287606 rs1231139671	305	I>F		No	ClinGen TOPMed
rs779095621 CA4878423	305	I>M		No	ClinGen ExAC gnomAD
rs755106708 CA4878421 COSM357911	306	L>F	lung [Cosmic]	No	ClinGen cosmic curated ExAC
rs373868790 CA4878420	308	V>L		No	ClinGen ESP ExAC gnomAD
CA372287580 rs1215231319	309	V>A		No	ClinGen gnomAD
CA4878418 rs755858115	311	P>S		No	ClinGen ExAC TOPMed gnomAD
rs202036797 CA4878417 COSM1096128	312	R>Q	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
COSM1454858 rs1302992492 CA372287565	312	R>W	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA186107246 rs926735414	313	L>M		No	ClinGen Ensembl
rs184754999 CA4878416	314	A>E		No	ClinGen 1000Genomes ExAC gnomAD
CA372287554 COSM1096127 rs184754999	314	A>V	Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD
rs1422321707 CA372287548	315	V>G		No	ClinGen TOPMed
rs774306570 CA4878414	316	I>S		No	ClinGen ExAC gnomAD
rs1426981628 CA372287533	318	I>V		No	ClinGen TOPMed
rs763548484 CA4878413	319	N>K		No	ClinGen ExAC gnomAD
rs1199345049 CA372287520	320	Q>E		No	ClinGen Ensembl
CA4878388 rs776445529	321	V>A		No	ClinGen ExAC gnomAD
rs762306859 CA4878386	323	A>S		No	ClinGen ExAC TOPMed gnomAD
CA4878385 rs774996257	323	A>V		No	ClinGen ExAC TOPMed gnomAD
CA372287468 rs1318365422	326	V>M		No	ClinGen gnomAD
CA372287461 rs2228950	327	L>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs934942476 CA186101417	329	M>I		No	ClinGen TOPMed gnomAD
rs769799070 CA372287449	329	M>L		No	ClinGen ExAC TOPMed gnomAD
CA372287447 rs1321828597	329	M>T		No	ClinGen TOPMed
rs769799070 CA4878381	329	M>V		No	ClinGen ExAC TOPMed gnomAD
rs1380622916 CA372287439	330	C>Y		No	ClinGen gnomAD
rs267601775 CA186101416	331	M>I		No	ClinGen Ensembl
CA4878379 rs370095105	331	M>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs370095105 CA4878380	331	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA186101415 rs867747553	335	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA372287400 rs1447719108	336	I>V		No	ClinGen gnomAD
rs1166509728 CA372287378	339	S>G		No	ClinGen gnomAD
rs1459947181 CA372287371	340	Y>N		No	ClinGen gnomAD
CA372287362 rs1374813256	341	L>V		No	ClinGen TOPMed
CA4878377 rs751412088	343	D>V		No	ClinGen ExAC gnomAD
CA186101413 rs76744528	346	Q>*		No	ClinGen Ensembl
CA186101412 rs1004637982	346	Q>R		No	ClinGen Ensembl
rs1310704437 CA372287326	347	R>C		No	ClinGen TOPMed
COSM1238135 CA4878376 rs201905912	347	R>H	Variant assessed as Somatic; 0.0 impact. oesophagus central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD
CA372287320 rs1382802423	348	Q>R		No	ClinGen gnomAD
rs1208434187 CA372287306	350	F>C		No	ClinGen TOPMed
CA372287290 rs1489452194	352	E>D		No	ClinGen gnomAD
CA186101410 rs113078329	355	R>G		No	ClinGen ExAC TOPMed gnomAD
rs975963053 CA186101409	356	C>Y		No	ClinGen TOPMed
CA4878371 rs753508496	358	E>D		No	ClinGen ExAC gnomAD
rs1357385148 CA372287247	359	A>G		No	ClinGen gnomAD
rs1241230694 CA372287240	360	R>S		No	ClinGen gnomAD
CA372287244 rs1311468563	360	R>W		No	ClinGen gnomAD
rs766203110 CA4878370	361	L>M		No	ClinGen ExAC gnomAD
rs377530734 CA4878369	362	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
CA4878368 rs774800014	362	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA4878366 rs773806425	365	T>S		No	ClinGen ExAC TOPMed gnomAD
rs769898549 CA4878363	368	Q>K		No	ClinGen ExAC TOPMed gnomAD
rs1179174703 CA372287193	368	Q>R		No	ClinGen gnomAD
rs771026095 CA4878343	371	E>K		No	ClinGen ExAC gnomAD
TCGA novel	372	R>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4878341 rs138524416	372	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA4878342 rs747184724	372	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs778898706 CA4878338	374	V>A		No	ClinGen ExAC
CA4878339 rs201402635	374	V>L		No	ClinGen ExAC TOPMed gnomAD
rs201402635 CA4878340	374	V>M		No	ClinGen ExAC TOPMed gnomAD
rs754907006 CA4878337	375	L>P		No	ClinGen ExAC
CA4878336 rs749242886	376	S>F		No	ClinGen ExAC
CA4878334 rs755711328	377	V>L		No	ClinGen ExAC TOPMed gnomAD
rs755711328 CA4878335	377	V>M		No	ClinGen ExAC TOPMed gnomAD
rs750072698 CA4878333	378	L>F		No	ClinGen ExAC gnomAD
TCGA novel	378	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA372204031 rs1264337709	379	P>L		No	ClinGen TOPMed
rs373225005 CA4878331	380	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs373225005 CA4878330 COSM1739483	380	R>Q	Variant assessed as Somatic; 0.0 impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA4878332 rs376386996	380	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA185389957 rs936576291	382	V>F		No	ClinGen Ensembl
rs1447934732 CA372203999	385	E>V		No	ClinGen TOPMed
rs267601774 COSM1700633 CA185389945	386	M>I	skin [Cosmic]	No	ClinGen cosmic curated Ensembl
CA372203995 rs1315606421	386	M>V		No	ClinGen TOPMed gnomAD
CA4878328 rs759991650	388	N>D		No	ClinGen ExAC
rs1406322986 CA372203970	389	D>G		No	ClinGen gnomAD
CA185389924 rs983062571	389	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1175489269 CA372203955	391	T>I		No	ClinGen gnomAD
rs769416849 CA185389919	393	V>M		No	ClinGen TOPMed gnomAD
CA4878327 rs777141635	394	E>G		No	ClinGen ExAC gnomAD
CA4878324 rs772240398	397	H>L		No	ClinGen ExAC gnomAD
CA4878322 rs748417280	397	H>Q		No	ClinGen ExAC gnomAD
CA4878323 rs772240398	397	H>R		No	ClinGen ExAC gnomAD
CA185389908 rs1003018405	397	H>Y		No	ClinGen TOPMed gnomAD
CA4878320 rs768603039	399	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA372203904 rs1201965550	399	Q>P		No	ClinGen TOPMed gnomAD
TCGA novel	399	Q>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4878319 rs749189912	401	Q>H		No	ClinGen ExAC gnomAD
COSM324647 CA4878317 rs755658343	404	R>Q	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1382831724 CA372203839	408	H>P		No	ClinGen gnomAD
CA372203833 rs1335694203	409	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA4878315 rs756790618	409	R>H		No	ClinGen ExAC TOPMed gnomAD
CA185389875 rs756790618	409	R>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA4878314 rs756790618	409	R>P		No	ClinGen ExAC TOPMed gnomAD
CA372203819 rs200933615	411	E>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4878313 rs751251443	411	E>G		No	ClinGen ExAC gnomAD
CA4878310 rs149234763	413	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA372202448 rs1307303814	415	I>S		No	ClinGen gnomAD
CA372202430 rs1222802266	418	A>S		No	ClinGen gnomAD
rs1370911516 CA372202420	419	D>E		No	ClinGen gnomAD
rs1586592503 CA372202401	422	G>E		No	ClinGen Ensembl
CA4878286 rs756512897	424	T>A		No	ClinGen ExAC gnomAD
rs750970943 CA372202382	425	N>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs750970943 CA4878285	425	N>T		No	ClinGen ExAC gnomAD
CA4878284 rs767448924	426	L>F		No	ClinGen ExAC gnomAD
CA372202347 rs1242115483	431	S>P		No	ClinGen gnomAD
CA372202340 rs1399110078	432	A>S		No	ClinGen gnomAD
rs542408280 CA4878280	433	Q>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs769658520 CA4878278	434	E>D		No	ClinGen ExAC gnomAD
rs267601773 CA185384906	434	E>K		No	ClinGen Ensembl
rs1267342888 CA372202312	437	R>G		No	ClinGen gnomAD
rs77053582 CA4878276	440	N>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4878274 rs369429897	441	E>K		No	ClinGen ESP ExAC gnomAD
TCGA novel	443	F>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	444	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs747804151 CA4878271	445	R>T		No	ClinGen ExAC TOPMed gnomAD
CA372202240 rs1223863714	447	D>Y		No	ClinGen gnomAD
CA185384866 rs780241069	448	R>L		No	ClinGen ExAC TOPMed gnomAD
COSM3432119 rs780241069 CA4878270	448	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA4878267 rs781744294	450	A>G		No	ClinGen ExAC gnomAD
rs545003779 CA4878264	451	H>Q		No	ClinGen 1000Genomes ExAC gnomAD
rs1460594134 CA372201388	452	E>K		No	ClinGen gnomAD
rs1311205316 CA372201379	453	H>Y		No	ClinGen TOPMed
rs754714304 CA4878242	454	H>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA372201357 rs1340309447	456	L>V		No	ClinGen TOPMed
COSM3432118 CA4878241 rs753611079	457	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs368219344 CA185379696	457	R>H		No	ClinGen ESP TOPMed gnomAD
CA185379689 rs976230194	462	G>R		No	ClinGen Ensembl
TCGA novel	463	D>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1563736085 CA372201284	467	C>S		No	ClinGen Ensembl
rs773155849 CA4878238	468	V>A		No	ClinGen ExAC gnomAD
rs374795983 CA4878239	468	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1015004372 CA185379666	473	E>G		No	ClinGen TOPMed gnomAD
CA4878237 rs766993707	474	P>A		No	ClinGen ExAC gnomAD
rs1480654902 CA372201239	474	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA372201237 COSM1182044 rs1480654902	474	P>L	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed
TCGA novel	474	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA185379650 rs905311464	475	R>C		No	ClinGen gnomAD
rs761354664 CA4878236	475	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs371820803 CA4878234	476	Q>H		No	ClinGen ESP ExAC gnomAD
CA4878233 rs748910830	477	D>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs771440546 CA4878231	481	C>Y		No	ClinGen ExAC gnomAD
CA372201151 rs1163652054	487	L>V		No	ClinGen gnomAD
rs747492695 CA4878230	488	S>N		No	ClinGen ExAC gnomAD
CA4878229 rs778461959	488	S>R		No	ClinGen ExAC gnomAD
CA4878228 rs367989758	490	I>M		No	ClinGen ESP ExAC gnomAD
TCGA novel	492	T>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs764060103 CA4878207	497	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1328856005 CA372206793	497	R>W		No	ClinGen gnomAD
TCGA novel	498	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4878205 rs376838452	500	T>K		No	ClinGen ESP ExAC gnomAD
TCGA novel	500	T>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4878204 rs750280187	501	K>R		No	ClinGen ExAC gnomAD
CA372206690 rs1563724934 COSM1700631	503	D>N	Variant assessed as Somatic; impact. skin [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated Ensembl NCI-TCGA
CA372206658 rs1175623555	505	D>N		No	ClinGen gnomAD
TCGA novel	507	R>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA372206608 rs1374918060	509	G>R		No	ClinGen gnomAD
rs923574977 CA185400232	511	H>N		No	ClinGen TOPMed
TCGA novel	512	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1446681276 CA372206548	512	S>P		No	ClinGen TOPMed gnomAD
rs1446681276 CA372206550	512	S>T		No	ClinGen TOPMed gnomAD
CA185400211 rs933040675	513	G>S		No	ClinGen TOPMed gnomAD
CA185400198 rs540147685	513	G>V		No	ClinGen 1000Genomes
CA4878200 rs763633456 COSM1096122	514	S>L	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs369373540 CA4878198	517	C>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA372206470 rs369373540	517	C>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM3317382 rs759274341 CA4878196	518	G>S	urinary_tract [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1325298926 CA372206416	521	G>E		No	ClinGen gnomAD
rs964543424 CA185400123	522	L>R		No	ClinGen TOPMed
rs772595688 CA4878194	523	R>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1586561721 CA372206303	527	F>V		No	ClinGen Ensembl
TCGA novel	530	W>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs774769270 CA4878192	530	W>L		No	ClinGen ExAC gnomAD
rs1052320620 CA185400104	532	W>*		No	ClinGen Ensembl
CA372206191 rs1586561701	533	D>G		No	ClinGen Ensembl
rs1001124000 CA185400096	536	I>S		No	ClinGen TOPMed gnomAD
rs75890340 CA185400086	537	A>S		No	ClinGen TOPMed gnomAD
COSM265766 rs75890340 CA185400093	537	A>T	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs1412734277 CA372206093	538	N>I		No	ClinGen gnomAD
CA372206095 rs1412734277	538	N>S		No	ClinGen gnomAD
rs1025608895 CA185400081	540	L>F		No	ClinGen TOPMed gnomAD
CA4878190 rs368729916	542	S>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1023960046 CA185400065	546	P>S		No	ClinGen TOPMed
CA372205962 rs1202147759	547	G>E		No	ClinGen gnomAD
CA372205966 rs1242984859 COSM1330316	547	G>R	ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs1202147759 CA372205958	547	G>V		No	ClinGen gnomAD
rs1279923516 CA372205368	548	R>G		No	ClinGen gnomAD
rs1442895768 CA372205300	553	K>R		No	ClinGen TOPMed
CA372205276 rs1311396788	554	A>D		No	ClinGen TOPMed
CA4878158 rs754583984 COSM1182042	555	T>A	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs370063278 COSM1454856 CA4878157	555	T>M	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA4878155 rs757628799	558	C>Y		No	ClinGen ExAC gnomAD
CA4878154 rs751814502	559	L>I		No	ClinGen ExAC gnomAD
CA372205162 rs764526592	560	N>K		No	ClinGen ExAC TOPMed gnomAD
rs545028650 CA372205158	561	G>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1438445728 CA372205145	561	G>D		No	ClinGen TOPMed
CA4878152 rs545028650	561	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs776003106 CA4878150	564	N>D		No	ClinGen ExAC
rs75415615 CA4878149	564	N>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs62640020 CA4878147	565	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1219015892 CA372205039	567	E>D		No	ClinGen gnomAD
rs1284758146 CA372205014	570	G>S		No	ClinGen gnomAD
rs200760917 CA372204970	572	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200760917 CA4878145	572	E>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs770679620 CA185395817	574	N>K		No	ClinGen Ensembl
CA4878144 rs772840638	579	K>N		No	ClinGen ExAC gnomAD
rs771922353 CA4878143	580	H>N		No	ClinGen ExAC gnomAD
rs1370553445 CA372204778	581	N>S		No	ClinGen TOPMed
TCGA novel	582	I>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs768278234 CA4878140	583	E>G		No	ClinGen ExAC gnomAD
rs199719667 COSM225274 CA4878141	583	E>K	NS [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel CA4878139 rs748866472	585	Y>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC gnomAD NCI-TCGA
TCGA novel	585	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs779630953 CA4878138	586	L>V		No	ClinGen ExAC gnomAD
CA4878137 rs755657790	587	I>T		No	ClinGen ExAC gnomAD
rs1177793842 CA372204699	588	K>Q		No	ClinGen gnomAD
CA4878135 rs777953798	590	P>A		No	ClinGen ExAC gnomAD
CA372204664 rs777953798	590	P>T		No	ClinGen ExAC gnomAD
CA4878131 rs146745350	596	S>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs1403832301 CA372204557	596	S>Y		No	ClinGen TOPMed
CA372204538 rs1463379192	598	P>S		No	ClinGen TOPMed gnomAD
CA4878129 rs766510118 COSM1244476	599	E>K	Variant assessed as Somatic; 0.0 impact. oesophagus [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1224104794 CA372204513	600	D>G		No	ClinGen gnomAD
CA4878128 rs760758408	601	I>V		No	ClinGen ExAC TOPMed gnomAD
CA4878125 COSM3382117 rs761767210	602	V>I	pancreas [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA185395758 rs761767210	602	V>L		No	ClinGen ExAC TOPMed gnomAD
rs368131389 CA4878124	608	S>P		No	ClinGen ESP ExAC gnomAD
CA4878122 rs112009062	611	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs386730061 CA185395709	611	R>G		No	ClinGen Ensembl
rs557075212 CA4878120	611	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
COSM3395104 CA4878121 rs557075212	611	R>Q	pancreas Variant assessed as Somatic; 4.621e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA185395715 rs112009062	611	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs780942439 CA4878118	614	S>R		No	ClinGen ExAC TOPMed gnomAD
CA4878116 rs752997636	616	A>T		No	ClinGen ExAC gnomAD
rs755436255 CA4878114	617	T>P		No	ClinGen ExAC gnomAD
rs755436255 CA4878115	617	T>S		No	ClinGen ExAC gnomAD
CA372204318 rs1258755835	619	T>I		No	ClinGen TOPMed
rs754390667 CA4878113	622	S>T		No	ClinGen ExAC TOPMed gnomAD
rs145706736 CA185395650	625	P>T		No	ClinGen ESP TOPMed gnomAD
COSM204157 CA4878109 rs201550256	633	V>M	Variant assessed as Somatic; 0.0 impact. oesophagus large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA372204154 rs1206469000	634	G>E		No	ClinGen gnomAD
rs373297567 CA372204108	637	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs763947518 CA4878089	638	T>I		No	ClinGen ExAC gnomAD
TCGA novel	639	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA185386572 rs753208446	639	L>V		No	ClinGen gnomAD
CA372202082 rs1373203923	641	A>S		No	ClinGen gnomAD
CA185386570 rs765856010	648	N>Y		No	ClinGen Ensembl
rs762851602 CA4878088	650	L>I		No	ClinGen ExAC gnomAD
rs1366828527 CA372201929	652	N>S		No	ClinGen gnomAD
rs775272356 CA4878087	657	A>T		No	ClinGen ExAC gnomAD
CA4878086 COSM749368 rs376569097	657	A>V	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA372201844 rs759408451 CA4878085	658	L>F		No	ClinGen ExAC gnomAD
rs776072809 CA4878084	661	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA185386485 rs147685814	666	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA4878082 rs746635373	668	N>Y		No	ClinGen ExAC gnomAD
TCGA novel	669	K>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1179867359 CA372201696	670	R>G		No	ClinGen gnomAD
CA4878081 rs772901570	671	I>T		No	ClinGen ExAC gnomAD
rs768890360 CA4878080	672	E>D		No	ClinGen ExAC gnomAD
CA4878079 rs749728082	673	H>L		No	ClinGen ExAC gnomAD
rs756585882 CA4878077	674	T>A		No	ClinGen ExAC gnomAD
rs756585882 CA372201640	674	T>P		No	ClinGen ExAC gnomAD
CA4878076 rs746397481	674	T>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	675	I>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs759597763 CA4878075	675	I>V		No	ClinGen ExAC TOPMed gnomAD
CA4878073 rs751806556	676	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs758558481 CA4878072	677	L>V		No	ClinGen ExAC gnomAD
CA4878067 rs753815200	678	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs759481208 CA4878068	678	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1586530767 CA372201572	679	S>R		No	ClinGen Ensembl
TCGA novel	680	G>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs145360233 CA4878064	681	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
TCGA novel	685	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	686	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1410882275 CA372201509	688	I>N		No	ClinGen gnomAD
CA185386420 rs1042926370 COSM3778904	692	S>L	Variant assessed as Somatic; impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs761384414 CA4878062	693	L>M		No	ClinGen ExAC TOPMed gnomAD
rs770084286 CA4878060	694	M>I		No	ClinGen ExAC TOPMed gnomAD
rs775874669 CA372201471	694	M>R		No	ClinGen ExAC TOPMed gnomAD
rs775874669 CA4878061	694	M>T		No	ClinGen ExAC TOPMed gnomAD
CA4878059 rs746344115	698	S>C		No	ClinGen ExAC TOPMed gnomAD
rs1205881295 CA372201436	699	S>N		No	ClinGen TOPMed gnomAD
TCGA novel	702	H>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1342272435 CA372200742	704	Y>F		No	ClinGen gnomAD
rs111761383 CA185373099	704	Y>H		No	ClinGen Ensembl
CA372200699 rs1432570597	710	E>K		No	ClinGen TOPMed
TCGA novel	719	A>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA185373096 rs1023661733	719	A>V		No	ClinGen TOPMed
TCGA novel	720	F>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA372200623 rs1450157806	720	F>L		No	ClinGen TOPMed
CA4878040 rs770170417	721	I>T		No	ClinGen ExAC TOPMed gnomAD
rs140797450 CA4878038	722	V>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA4878037 rs140797450 COSM1096115	722	V>I	endometrium [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs893713388 CA185373055	723	L>F		No	ClinGen TOPMed
rs748382418 CA4878034	727	T>K		No	ClinGen ExAC TOPMed gnomAD
rs748382418 COSM1244466 CA4878033	727	T>M	Variant assessed as Somatic; 0.0 impact. oesophagus [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1586504743 CA372200584	727	T>S		No	ClinGen Ensembl
rs373937671 CA4878031	728	A>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs371333986 CA4878030	728	A>V		No	ClinGen ESP ExAC gnomAD
CA185372983 rs1052021666	730	Q>R		No	ClinGen Ensembl
rs1445636005 CA372200560	731	S>N		No	ClinGen gnomAD
rs545483840 CA185372982	731	S>R		No	ClinGen TOPMed gnomAD
rs755996379 CA4878028	734	P>R		No	ClinGen ExAC
rs866330045 CA185372971 COSM223309	734	P>S	Variant assessed as Somatic; impact. skin [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated Ensembl NCI-TCGA
rs1186137453 CA372200536	735	S>C		No	ClinGen gnomAD
TCGA novel	739	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA372199988 rs1258773467	739	M>T		No	ClinGen TOPMed
TCGA novel	741	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA372199977 rs1227644122	741	M>V		No	ClinGen gnomAD
rs756783369 CA4878006	742	T>A		No	ClinGen ExAC gnomAD
CA372199960 rs1305023223	743	I>N		No	ClinGen gnomAD
rs1563691539 CA372199963	743	I>V		No	ClinGen Ensembl
COSM1096113 CA4878005 rs562748729	745	F>L	endometrium [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC gnomAD
rs1321771549 CA372199935	747	I>L		No	ClinGen TOPMed gnomAD
CA372199930 rs1402817913	747	I>T		No	ClinGen gnomAD
CA372199934 rs1321771549	747	I>V		No	ClinGen TOPMed gnomAD
TCGA novel	752	H>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA372199892 rs1198215125	753	S>A		No	ClinGen TOPMed
rs752440018 CA4878002	753	S>L		No	ClinGen ExAC TOPMed gnomAD
rs1409191198 CA372199884	754	A>V		No	ClinGen gnomAD
rs745647617 CA185357962	758	I>T		No	ClinGen gnomAD
rs1563691487 CA372199865	758	I>V		No	ClinGen Ensembl
rs1245794856 CA372199855	759	T>N		No	ClinGen gnomAD
CA4877999 rs544489182	763	D>N		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	765	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	765	K>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA372199797 rs1448526744	767	L>F		No	ClinGen gnomAD
TCGA novel	767	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs767845939 CA4877998	768	P>S		No	ClinGen ExAC gnomAD
COSM372038 CA4877997 rs762397071	769	L>F	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA4877996 rs577123573	769	L>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1285067442 CA372199784	770	I>N		No	ClinGen gnomAD
rs147278965 COSM218946 CA4877993	772	R>Q	Variant assessed as Somatic; 0.0 impact. pancreas large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs749479126 CA4877994 COSM1096112	772	R>W	Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA185357907 rs184801904	775	C>R		No	ClinGen 1000Genomes
rs1226820568 CA372199747	776	C>Y		No	ClinGen TOPMed
CA185357899 rs267601772	778	I>N		No	ClinGen Ensembl
CA4877992 rs373483413	780	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	782	Y>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA185357870 rs867672271	784	A>V		No	ClinGen Ensembl
CA4877990 rs781040718 COSM1700626	785	R>Q	skin [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA372199685 rs1433282186	785	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs747001489 CA4877988	787	V>I	Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA4877987 rs777390566	788	I>L		No	ClinGen ExAC TOPMed gnomAD
CA372199669 rs777390566	788	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1269008216 CA372199654	790	F>V		No	ClinGen TOPMed
rs1187727469 CA372199648	791	A>T		No	ClinGen gnomAD
CA4877984 rs746873452	793	I>T		No	ClinGen ExAC TOPMed gnomAD
CA4877985 rs752386948	793	I>V		No	ClinGen ExAC gnomAD
TCGA novel	798	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4877982 rs572890446	798	L>V		No	ClinGen 1000Genomes ExAC
rs1276572426 CA372199589	800	A>S		No	ClinGen TOPMed gnomAD
CA4877981 rs750695463	801	I>M		No	ClinGen ExAC gnomAD
rs1161881827 CA372199579	802	L>I		No	ClinGen TOPMed
rs1366164013 CA372199570	803	N>Y		No	ClinGen gnomAD
rs1433379964	804	I>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA372199564 rs1297090770	804	I>V		No	ClinGen gnomAD
rs1203355929	805	L>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	806	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA372198992 rs200424148	806	W>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs200424148 CA4877947	806	W>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1586475919 CA372198983	807	C>G		No	ClinGen Ensembl
CA4877946 rs763452631	807	C>Y		No	ClinGen ExAC gnomAD
TCGA novel	808	D>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA372198972 rs1586475911	808	D>V		No	ClinGen Ensembl
rs140094663 CA4877943	810	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA4877944 rs374970227	810	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA4877945 rs201870639	810	D>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA372198961 rs201870639	810	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs79196788 CA4877942	812	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	813	I>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1407655091 CA372198932	814	P>H		No	ClinGen gnomAD
CA372198927 rs1392469352	815	L>S		No	ClinGen gnomAD
CA4877940 rs773146338 COSM308944 CA4877939	817	N>K	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs772079946 CA4877938	818	L>V		No	ClinGen ExAC gnomAD
CA372198903 rs1239286888	819	T>S		No	ClinGen TOPMed
CA4877936 rs141574722	821	N>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs371754667 CA4877935	822	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA4877934 rs368015266	824	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs77429727 CA4877933	824	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1270398060 CA372198812	830	C>Y		No	ClinGen gnomAD
rs992601985 CA185356109	831	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs757554640 CA4877932	831	S>T		No	ClinGen ExAC TOPMed gnomAD
rs778119367 CA4877930	833	P>R		No	ClinGen ExAC TOPMed
rs747305191 CA4877931	833	P>T		No	ClinGen ExAC gnomAD
rs1397738798 CA372198765	834	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs368175473 CA4877910	836	F>S		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	836	F>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4877909 rs748644836	837	V>I		No	ClinGen ExAC TOPMed gnomAD
CA4877908 rs779542973	839	T>M	Variant assessed as Somatic; 4.637e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs779542973 CA372205534	839	T>R		No	ClinGen ExAC TOPMed gnomAD
CA4877906 rs375618216	840	G>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs1554605126 CA372205526	841	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs1412539742 CA372205502	844	M>I		No	ClinGen TOPMed
rs1256304656 CA372205506	844	M>T		No	ClinGen gnomAD
rs1199406720 CA372205451	852	R>Q		No	ClinGen gnomAD
rs143864633 CA4877902	856	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA4877901 rs761756722	860	A>E		No	ClinGen ExAC gnomAD
CA372205402 rs1341530666	861	V>M		No	ClinGen TOPMed
rs1563685105 CA372205390	863	L>V		No	ClinGen Ensembl
rs267601770 COSM749372 CA185397202	865	M>I	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated Ensembl NCI-TCGA
CA372205375 rs1563685102	865	M>L		No	ClinGen Ensembl
rs1268168886 CA372205357	866	I>L		No	ClinGen gnomAD
rs1341019635 CA372205326	868	I>V		No	ClinGen gnomAD
rs764024717 CA4877899	869	Y>*		No	ClinGen ExAC gnomAD
rs1372422555 CA372205307	869	Y>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs774150772 CA4877900	869	Y>H		No	ClinGen ExAC gnomAD
rs1276871579 CA372205259	872	L>F		No	ClinGen TOPMed
rs762807268 CA4877898	874	E>G		No	ClinGen ExAC gnomAD
CA4877897 rs775013834	875	T>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs772425712 CA4877893	876	V>A		No	ClinGen ExAC gnomAD
CA4877894 rs142382471	876	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
COSM4162672 CA847497204 rs1255187189	877	Y>*	thyroid [Cosmic]	No	ClinGen cosmic curated TOPMed
rs748482672 CA4877892	877	Y>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
TCGA novel	878	A>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs557261841 CA372205152	878	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4877890 COSM1313716 rs557261841	878	A>T	Variant assessed as Somatic; 0.0 impact. pancreas urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1482513025 CA372205125	879	G>V		No	ClinGen gnomAD
VAR_036328	881	F>L	a colorectal cancer sample; somatic mutation [UniProt]	No	UniProt
CA4877888 rs780153239	883	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA4877887 rs750659032	883	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA372205071 rs750659032	883	R>L		No	ClinGen ExAC TOPMed gnomAD
CA4877886 rs750659032	883	R>P		No	ClinGen ExAC TOPMed gnomAD
CA372204990 rs1231365071	886	N>H		No	ClinGen gnomAD
rs539169896 CA4877885	892	E>A		No	ClinGen 1000Genomes ExAC gnomAD
CA372204883 rs1352477365	892	E>Q		No	ClinGen TOPMed gnomAD
rs539169896 CA372204870	892	E>V		No	ClinGen 1000Genomes ExAC gnomAD
CA4877862 rs137921340	894	F>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA4877863 rs137921340	894	F>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1466055178 CA372202805	895	L>V		No	ClinGen TOPMed gnomAD
CA372202798 rs1563678708	896	G>R		No	ClinGen Ensembl
CA4877860 rs370127292	897	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1207965168 CA372202761	899	E>Q		No	ClinGen gnomAD
rs1352425025 CA372202754	899	E>V		No	ClinGen gnomAD
CA372202742 rs1280791617	900	V>A		No	ClinGen gnomAD
rs1315257640 CA372202749	900	V>I		No	ClinGen gnomAD
CA4877859 rs753297735	901	S>T		No	ClinGen ExAC gnomAD
rs1437733218 CA372202695	905	M>T		No	ClinGen gnomAD
rs1301477696 CA372202699	905	M>V		No	ClinGen gnomAD
CA4877858 rs765905342	906	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1306586517 CA372202658	907	M>I		No	ClinGen gnomAD
CA372202673 rs760345728	907	M>L		No	ClinGen ExAC gnomAD
rs760345728 CA4877857	907	M>V		No	ClinGen ExAC gnomAD
TCGA novel	909	L>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs772789667 CA4877856	911	A>V		No	ClinGen ExAC gnomAD
rs1177577031 COSM3663563 CA372202613	912	V>L	liver [Cosmic]	No	ClinGen cosmic curated gnomAD
CA185389734 rs377504346	915	H>Q		No	ClinGen ESP TOPMed
TCGA novel	917	Q>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	918	Q>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4877838 rs767009483	920	E>G		No	ClinGen ExAC gnomAD
CA4877839 rs750085004	920	E>K		No	ClinGen ExAC gnomAD
CA372202177 rs1337766887	922	T>I		No	ClinGen TOPMed
rs761539494 CA4877837 COSM454022	924	R>C	lung liver endometrium breast [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs371693062 CA185385880	924	R>H		No	ClinGen TOPMed gnomAD
rs761539494 CA372202170	924	R>S		No	ClinGen ExAC TOPMed gnomAD
CA4877836 rs775947445	926	D>N		No	ClinGen ExAC gnomAD
TCGA novel	928	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs765725170 CA4877835 COSM238709	930	R>*	prostate Variant assessed as Somatic; 4.629e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1052999214 CA185385855	930	R>Q		No	ClinGen TOPMed gnomAD
rs140319518 CA4877834	931	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA372202108 rs1202898971	933	A>T		No	ClinGen gnomAD
rs771041391 CA4877832	936	E>D		No	ClinGen ExAC gnomAD
rs1563675669 CA372202064	936	E>Q		No	ClinGen Ensembl
rs746997494 CA4877831	938	N>D		No	ClinGen ExAC gnomAD
rs1009391485 CA185385812	938	N>S		No	ClinGen gnomAD
TCGA novel	939	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs112254567 CA185385806	939	E>G		No	ClinGen Ensembl
TCGA novel	939	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4877829 rs772140303	940	M>I		No	ClinGen ExAC gnomAD
CA4877828 rs748401433	941	K>N		No	ClinGen ExAC gnomAD
CA372201992 rs1157031689	941	K>T		No	ClinGen gnomAD
rs138671740 CA4877827	946	H>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs1165477639 CA372201871	949	N>K		No	ClinGen gnomAD
TCGA novel	950	M>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	951	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4877825 rs183246609 COSM204133	952	R>Q	Variant assessed as Somatic; 0.0004621 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA4877826 rs150152490	952	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4877822 rs777443820 CA4877823	955	L>F		No	ClinGen ExAC gnomAD
rs756926881 CA4877821	957	S>G		No	ClinGen ExAC TOPMed gnomAD
CA4877820 rs756926881	957	S>R		No	ClinGen ExAC TOPMed gnomAD
rs1489703994 CA372201773	957	S>T		No	ClinGen gnomAD
rs751293197 CA4877819	958	H>L		No	ClinGen ExAC gnomAD
CA372201761 rs1266394882	958	H>Y		No	ClinGen gnomAD
rs765672223 CA4877818	961	R>C		No	ClinGen ExAC TOPMed gnomAD
CA4877817 rs760033327	961	R>H		No	ClinGen ExAC TOPMed gnomAD
CA372201720 rs760033327	961	R>L		No	ClinGen ExAC TOPMed gnomAD
rs777142741 CA4877816	965	E>Q		No	ClinGen ExAC gnomAD
rs1586440199 CA372201642	967	D>A		No	ClinGen Ensembl
rs766740795 CA4877815	968	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs374456387 CA4877814 COSM454020	968	R>Q	Variant assessed as Somatic; 0.0002312 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs140876332 CA185385745	969	D>A		No	ClinGen ESP TOPMed
CA372201079 rs1392413278	973	L>V		No	ClinGen TOPMed gnomAD
TCGA novel	977	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA372201042 rs1446909413	978	Y>*		No	ClinGen gnomAD
rs942444681 CA185374100	978	Y>C		No	ClinGen TOPMed
rs775108139 CA4877789	980	A>V		No	ClinGen ExAC gnomAD
rs1483907046 CA372201015	983	V>M		No	ClinGen gnomAD
rs769666719 CA4877788	984	M>L		No	ClinGen ExAC gnomAD
CA372200993 rs1233092582	986	A>T		No	ClinGen gnomAD
rs745767630 CA4877787	987	S>C		No	ClinGen ExAC TOPMed gnomAD
CA372200981 rs1299501716	988	I>V		No	ClinGen gnomAD
rs868159416 CA185374060 COSM1684895	989	P>Q	skin [Cosmic]	No	ClinGen cosmic curated Ensembl
rs909661859 CA185374040	990	G>R		No	ClinGen TOPMed
COSM1182045 CA4877785 rs770559183	992	A>V	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA185374026 rs1056055581	993	D>H		No	ClinGen Ensembl
rs1376134109 CA372200914	998	T>A		No	ClinGen gnomAD
TCGA novel	998	T>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA372200878 rs1433059669	1002	N>K		No	ClinGen gnomAD
rs758087462 CA4877782	1005	V>A		No	ClinGen ExAC gnomAD
rs780259353 CA4877780	1008	L>M		No	ClinGen ExAC TOPMed
CA372200835 COSM749377 rs1475267602	1009	R>C	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs1190151594 CA372200829	1010	L>S		No	ClinGen gnomAD
TCGA novel	1012	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs756559749 CA4877779	1012	N>S		No	ClinGen ExAC TOPMed gnomAD
CA4877778 rs142352284	1014	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs972309838 CA185373999	1015	I>F		No	ClinGen TOPMed
CA372200794 rs1418601428	1015	I>T		No	ClinGen TOPMed
rs1158674249 CA372200789	1016	A>S		No	ClinGen TOPMed
CA4877777 rs539555378	1017	D>G		No	ClinGen 1000Genomes ExAC gnomAD
rs1563669393 CA372200777	1018	F>L		No	ClinGen Ensembl
COSM1700624 rs751588524 CA4877775	1019	D>N	skin [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1441744432 CA372200498	1022	L>F		No	ClinGen TOPMed gnomAD
CA4877758 rs752100162	1026	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs752100162 CA4877757	1026	R>G		No	ClinGen ExAC gnomAD
CA4877756 rs764132947	1026	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs934809669 CA185359973	1027	F>V		No	ClinGen TOPMed
TCGA novel	1034	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA372200402 rs1394431778	1036	I>L		No	ClinGen gnomAD
CA4877754 rs79950086	1036	I>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1459469314 CA372200369	1041	M>L		No	ClinGen gnomAD
rs1039178689 CA185359955 COSM1674175	1042	A>V	large_intestine [Cosmic]	No	ClinGen cosmic curated Ensembl
rs371947731 COSM1551845 CA4877752	1043	V>M	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs1230769795 CA372200349	1044	S>P		No	ClinGen gnomAD
rs1200776679 CA372200340	1045	G>A		No	ClinGen gnomAD
rs867600484 CA185359902	1049	E>K		No	ClinGen Ensembl
CA372200300 rs1234367845	1051	Q>H		No	ClinGen gnomAD
rs1235296655 CA372200284	1052	Q>K		No	ClinGen TOPMed gnomAD
rs1196041156 CA372200272	1053	C>Y		No	ClinGen TOPMed
TCGA novel	1054	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1301681952 CA372200253	1055	D>E		No	ClinGen gnomAD
rs1347668266 CA372200255	1055	D>V		No	ClinGen gnomAD
rs766264323 CA4877732	1056	K>N		No	ClinGen ExAC gnomAD
rs1231009517 CA372200248	1056	K>R		No	ClinGen gnomAD
rs1429431635 CA372200243	1057	W>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs760614026 CA4877731	1057	W>G		No	ClinGen ExAC TOPMed gnomAD
CA372200244 rs760614026	1057	W>R		No	ClinGen ExAC TOPMed gnomAD
CA185358120 rs970878809	1060	L>F		No	ClinGen TOPMed
CA4877729 rs767432306	1061	C>R		No	ClinGen ExAC TOPMed gnomAD
rs1434916269 CA372200212	1061	C>Y		No	ClinGen gnomAD
CA4877728 rs761676653	1062	A>S		No	ClinGen ExAC TOPMed gnomAD
rs1171546317 CA372200204	1062	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1430037556 CA372200196	1064	A>S		No	ClinGen gnomAD
CA372200188 rs1420143833	1065	D>G		No	ClinGen TOPMed gnomAD
rs1420143833 CA372200189	1065	D>V		No	ClinGen TOPMed gnomAD
rs1259673084 CA372200164	1069	A>T		No	ClinGen TOPMed gnomAD
TCGA novel	1073	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1453189539 CA372200125	1074	I>M		No	ClinGen Ensembl
rs909220968 CA185358033	1084	N>S		No	ClinGen Ensembl
CA372200042 rs1488446542	1085	F>L		No	ClinGen TOPMed
rs747303557 COSM1454847 CA4877721	1088	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	1090	G>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1563660832 CA372199546	1090	G>D		No	ClinGen Ensembl
CA372199536 rs1254189191	1092	S>C		No	ClinGen TOPMed gnomAD
rs1254189191 CA372199534	1092	S>G		No	ClinGen TOPMed gnomAD
TCGA novel	1094	G>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA185355620 rs1034326187 COSM1582749	1094	G>S	Variant assessed as Somatic; 0.0 impact. stomach [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA4877693 rs746130874	1096	V>A		No	ClinGen ExAC gnomAD
rs1586403634 CA372199482	1100	V>G		No	ClinGen Ensembl
COSM454019 rs751510726 CA4877690	1100	V>I	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs758344450 CA4877688	1102	G>S		No	ClinGen ExAC TOPMed gnomAD
rs201573600 CA185355581	1103	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA372199450 rs1586403605	1105	K>N		No	ClinGen Ensembl
CA372199445 rs1454339631	1106	P>L		No	ClinGen gnomAD
CA4877684 rs776205172	1107	Q>R		No	ClinGen ExAC gnomAD
rs767919298 CA4877683	1108	Y>C		No	ClinGen ExAC gnomAD
rs201905736 CA185355544	1108	Y>H		No	ClinGen Ensembl
rs1264430714 CA372199409	1111	W>*		No	ClinGen gnomAD
CA185355521 rs775704142	1114	T>N		No	ClinGen Ensembl
rs1586403535 CA372199375	1116	N>T		No	ClinGen Ensembl
CA4877680 rs139964168	1117	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs927469755 CA185355500	1118	A>E		No	ClinGen gnomAD
TCGA novel	1118	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs927469755 CA372199364	1118	A>V		No	ClinGen gnomAD
rs150698439 CA4877679	1120	R>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA185355485 rs889544437	1120	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
TCGA novel	1121	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs775677705 CA4877678	1121	M>V		No	ClinGen ExAC
rs770039381 CA4877677	1123	S>G		No	ClinGen ExAC gnomAD
CA4877676 rs746086497	1123	S>N		No	ClinGen ExAC gnomAD
rs1233230400 CA372199325	1124	T>M		No	ClinGen gnomAD
CA4877673 rs746723664	1127	S>R		No	ClinGen ExAC TOPMed gnomAD
CA372199305 rs1563660678	1128	G>S		No	ClinGen Ensembl
rs372297753 CA4877671	1129	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs201993149 COSM3768690 CA4877672	1129	R>W	liver [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs1444174034 CA372199295	1130	I>V		No	ClinGen TOPMed
CA4877669 rs764715112	1131	Q>H		No	ClinGen ExAC gnomAD
CA372199269 rs1455241447	1134	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs760400771 CA4877665	1137	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs765893822 CA4877666	1137	Y>H		No	ClinGen ExAC TOPMed gnomAD
rs765893822 CA372199248	1137	Y>N		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1138	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4877662 rs763528636	1143	Q>*		No	ClinGen ExAC TOPMed gnomAD
rs763528636 CA4877663	1143	Q>E		No	ClinGen ExAC TOPMed gnomAD
CA185355366 rs552573449	1144	G>D		No	ClinGen 1000Genomes gnomAD
rs1432836309 CA372199170	1148	D>V		No	ClinGen TOPMed
CA185355333 rs199631888	1150	R>L		No	ClinGen ExAC TOPMed gnomAD
rs199631888 CA4877659	1150	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA4877658 rs776784902	1152	E>A		No	ClinGen ExAC TOPMed gnomAD
CA4877657 rs771008212 CA372199146	1152	E>D		No	ClinGen ExAC TOPMed gnomAD
CA185355332 rs927373764	1152	E>K		No	ClinGen TOPMed gnomAD
rs747285184 CA4877656	1153	I>F		No	ClinGen ExAC gnomAD
rs777523444 CA4877655	1153	I>M		No	ClinGen ExAC gnomAD
rs1300340266 CA372199113	1157	G>V		No	ClinGen TOPMed
CA185355276 rs1021550886	1158	I>F		No	ClinGen TOPMed
TCGA novel	1161	Q>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA185355275 rs988754114	1162	E>Q		No	ClinGen TOPMed
COSM1686068 CA185355269 rs267601769	1163	G>E	Variant assessed as Somatic; impact. skin [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated Ensembl NCI-TCGA
rs1356343883 CA372199044	1167	T>K		No	ClinGen TOPMed gnomAD
rs1356343883 COSM273894 CA372199042	1167	T>M	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs753241810 CA4877650	1170	L>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA372199025 rs753241810	1170	L>I		No	ClinGen ExAC TOPMed gnomAD
CA185355251 rs867716250	1175	Q>*		No	ClinGen Ensembl
CA4877649 rs779649531	1177	N>K		No	ClinGen ExAC gnomAD
CA4877648 rs78439900	1178	P>A		No	ClinGen ExAC TOPMed gnomAD
rs750136473 CA4877647	1178	P>Q		No	ClinGen ExAC TOPMed gnomAD
CA372203584 rs1249701712	1183	P>A		No	ClinGen TOPMed
CA372203573 rs763475275	1184	R>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA4877645 rs763475275	1184	R>T		No	ClinGen ExAC gnomAD
CA4877643 rs765782348	1189	Q>H		No	ClinGen ExAC gnomAD
rs559664737 CA372203494	1190	Y>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
COSM749385 CA372203444 rs773491638	1194	A>G	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA4877639 rs573772081	1194	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4877638 rs773491638 COSM1096104	1194	A>V	large_intestine endometrium Variant assessed as Somatic; 4.62e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs747881553 CA4877636	1195	V>I		No	ClinGen ExAC TOPMed gnomAD
rs768440906 CA4877634	1198	G>A		No	ClinGen ExAC
rs1391783401 CA372203333	1202	S>Y		No	ClinGen TOPMed
CA372203328 rs1446053502	1203	L>F		No	ClinGen gnomAD
TCGA novel	1211	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1398739480 CA372203268	1211	L>Q		No	ClinGen gnomAD
rs1586403063 CA372203257	1213	N>H		No	ClinGen Ensembl
CA4877629 rs780920984	1215	N>S		No	ClinGen ExAC gnomAD
TCGA novel	1216	N>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA372203229 rs1462614537	1216	N>K		No	ClinGen gnomAD
CA372203224 rs1417945067	1217	N>S		No	ClinGen gnomAD
rs756983965 CA4877628	1218	T>I		No	ClinGen ExAC TOPMed gnomAD
rs1471591997 CA372203208	1220	I>V		No	ClinGen gnomAD
CA372203185 rs1401397666	1223	G>C		No	ClinGen TOPMed gnomAD
CA372203167 rs1468156556	1225	Y>*		No	ClinGen TOPMed
rs201701737 CA4877625	1227	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA4877626 rs753061333	1227	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA4877624 rs200123429 COSM381670	1228	R>L	lung [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA4877623 rs200123429	1228	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs981604557 COSM316991 CA185382777	1228	R>W	lung [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA372203147 rs1375578788	1229	T>I		No	ClinGen gnomAD
CA372203150 rs1272605079	1229	T>S		No	ClinGen gnomAD
CA4877622 rs766366222	1230	L>F		No	ClinGen ExAC TOPMed gnomAD
CA372203134 rs1238790194	1231	L>F		No	ClinGen gnomAD
CA372203124 rs1472650976	1233	P>H		No	ClinGen TOPMed
rs980635131 CA185382755 COSM1454845	1235	G>S	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA4877619 rs773294723	1237	E>V		No	ClinGen ExAC gnomAD
CA372203093 rs1294544418	1238	P>T		No	ClinGen TOPMed
CA4877617 rs80316823	1240	A>S		No	ClinGen ExAC TOPMed gnomAD
CA185382741 rs80316823	1240	A>T		No	ClinGen ExAC TOPMed gnomAD
CA4877616 rs138070178	1240	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs768548527 CA4877615	1243	E>G		No	ClinGen ExAC gnomAD
rs1195480535 CA372203054	1244	G>V		No	ClinGen gnomAD
rs1586402810 CA372203053	1245	T>P		No	ClinGen Ensembl
rs775562104 COSM1569199 CA4877613	1246	D>N	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA372203037 rs1219467974 COSM3432114	1247	K>I	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1291447329 CA372203040	1247	K>Q		No	ClinGen TOPMed
rs769618740 CA4877612	1249	D>H		No	ClinGen ExAC TOPMed gnomAD
CA4877611 rs200981799	1250	L>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs780870095 CA4877610	1251	P>S		No	ClinGen ExAC gnomAD

No associated diseases with P40145

No regional properties for P40145

Type	Name	Position	InterPro Accession
No domain, repeats, and functional sites for P40145

Functions

		Description
EC Number	4.6.1.1	Phosphorus-oxygen lyases
Subcellular Localization	Cell membrane ; Multi-pass membrane protein Basolateral cell membrane Apical cell membrane Synapse Cell projection, dendrite Cell projection, axon Presynaptic cell membrane Postsynaptic density Membrane raft Membrane, coated pit Cytoplasmic vesicle, clathrin-coated vesicle membrane Membrane, caveola	Localized to dendritic arbors (By similarity) Monomeric N-glycosylated species localizes in membrane raft In contrast, monomeric unglycosylated forms are enriched in clathrin-coated pits and vesicles Dimers are also localized outside of membrane rafts Membrane raft localization and integrity is indispensable for CCE-stimulated adenylate cyclase activity (By similarity)
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

21 GO annotations of cellular component

Name	Definition
anchoring junction	A cell junction that mechanically attaches a cell (and its cytoskeleton) to neighboring cells or to the extracellular matrix.
apical plasma membrane	The region of the plasma membrane located at the apical end of the cell.
axon	The long process of a neuron that conducts nerve impulses, usually away from the cell body to the terminals and varicosities, which are sites of storage and release of neurotransmitter.
basolateral plasma membrane	The region of the plasma membrane that includes the basal end and sides of the cell. Often used in reference to animal polarized epithelial membranes, where the basal membrane is the part attached to the extracellular matrix, or in plant cells, where the basal membrane is defined with respect to the zygotic axis.
caveola	A membrane raft that forms small pit, depression, or invagination that communicates with the outside of a cell and extends inward, indenting the cytoplasm and the cell membrane. Examples include flask-shaped invaginations of the plasma membrane in adipocytes associated with caveolin proteins, and minute pits or incuppings of the cell membrane formed during pinocytosis. Caveolae may be pinched off to form free vesicles within the cytoplasm.
clathrin-coated pit	A part of the endomembrane system in the form of an invagination of a membrane upon which a clathrin coat forms, and that can be converted by vesicle budding into a clathrin-coated vesicle. Coated pits form on the plasma membrane, where they are involved in receptor-mediated selective transport of many proteins and other macromolecules across the cell membrane, in the trans-Golgi network, and on some endosomes.
clathrin-coated vesicle membrane	The lipid bilayer surrounding a clathrin-coated vesicle.
dendrite	A neuron projection that has a short, tapering, morphology. Dendrites receive and integrate signals from other neurons or from sensory stimuli, and conduct nerve impulses towards the axon or the cell body. In most neurons, the impulse is conveyed from dendrites to axon via the cell body, but in some types of unipolar neuron, the impulse does not travel via the cell body.
excitatory synapse	A synapse in which an action potential in the presynaptic cell increases the probability of an action potential occurring in the postsynaptic cell.
glutamatergic synapse	A synapse that uses glutamate as a neurotransmitter.
hippocampal mossy fiber to CA3 synapse	One of the giant synapses that form between the mossy fiber axons of dentate gyrus granule cells and the large complex spines of CA3 pyramidal cells. It consists of a giant bouton known as the mossy fiber expansion, synapsed to the complex, multiheaded spine (thorny excresence) of a CA3 pyramidal cell.
integral component of plasma membrane	The component of the plasma membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.
integral component of presynaptic membrane	The component of the presynaptic membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.
membrane	A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.
membrane raft	Any of the small (10-200 nm), heterogeneous, highly dynamic, sterol- and sphingolipid-enriched membrane domains that compartmentalize cellular processes. Small rafts can sometimes be stabilized to form larger platforms through protein-protein and protein-lipid interactions.
neuronal cell body membrane	The plasma membrane of a neuron cell body - excludes the plasma membrane of cell projections such as axons and dendrites.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
plasma membrane raft	A membrane raft that is part of the plasma membrane.
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.
presynaptic active zone	A specialized region of the plasma membrane and cell cortex of a presynaptic neuron; encompasses a region of the plasma membrane where synaptic vesicles dock and fuse, and a specialized cortical cytoskeletal matrix.
Schaffer collateral - CA1 synapse	A synapse between the Schaffer collateral axon of a CA3 pyramidal cell and a CA1 pyramidal cell.

10 GO annotations of molecular function

Name	Definition
actin binding	Binding to monomeric or multimeric forms of actin, including actin filaments.
adenylate cyclase activity	Catalysis of the reaction: ATP = 3',5'-cyclic AMP + diphosphate.
ATP binding	Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
calcium- and calmodulin-responsive adenylate cyclase activity	Catalysis of the reaction: ATP = 3',5'-cyclic AMP + diphosphate, stimulated by calcium-bound calmodulin.
calmodulin binding	Binding to calmodulin, a calcium-binding protein with many roles, both in the calcium-bound and calcium-free states.
metal ion binding	Binding to a metal ion.
protein dimerization activity	The formation of a protein dimer, a macromolecular structure consists of two noncovalently associated identical or nonidentical subunits.
protein heterodimerization activity	Binding to a nonidentical protein to form a heterodimer.
protein homodimerization activity	Binding to an identical protein to form a homodimer.
protein phosphatase 2A binding	Binding to protein phosphatase 2A.

29 GO annotations of biological process

Name	Definition
activation of protein kinase A activity	Any process that initiates the activity of the inactive enzyme protein kinase A.
adenylate cyclase-activating G protein-coupled receptor signaling pathway	A G protein-coupled receptor signaling pathway in which the signal is transmitted via the activation of adenylyl cyclase activity and a subsequent increase in the intracellular concentration of cyclic AMP (cAMP).
cAMP biosynthetic process	The chemical reactions and pathways resulting in the formation of the nucleotide cAMP (cyclic AMP, adenosine 3',5'-cyclophosphate).
cellular response to calcium ion	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 calcium ion stimulus.
cellular response to forskolin	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 forskolin stimulus.
cellular response to glucagon stimulus	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 glucagon stimulus.
cellular response to glucose stimulus	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 glucose stimulus.
cellular response to morphine	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 morphine stimulus. Morphine is an opioid alkaloid, isolated from opium, with a complex ring structure.
G protein-coupled opioid receptor signaling pathway	A G protein-coupled receptor signaling pathway initiated by an opioid binding to its receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process.
glucose homeostasis	Any process involved in the maintenance of an internal steady state of glucose within an organism or cell.
glucose mediated signaling pathway	The process in which a change in the level of mono- and disaccharide glucose trigger the expression of genes controlling metabolic and developmental processes.
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.
learning or memory	The acquisition and processing of information and/or the storage and retrieval of this information over time.
locomotory behavior	The specific movement from place to place of an organism in response to external or internal stimuli. Locomotion of a whole organism in a manner dependent upon some combination of that organism's internal state and external conditions.
long-term memory	The memory process that deals with the storage, retrieval and modification of information a long time (typically weeks, months or years) after receiving that information. This type of memory is typically dependent on gene transcription regulated by second messenger activation.
memory	The activities involved in the mental information processing system that receives (registers), modifies, stores, and retrieves informational stimuli. The main stages involved in the formation and retrieval of memory are encoding (processing of received information by acquisition), storage (building a permanent record of received information as a result of consolidation) and retrieval (calling back the stored information and use it in a suitable way to execute a given task).
neuroinflammatory response	The immediate defensive reaction by neural vertebrate tissue to infection or injury caused by chemical or physical agents.
positive regulation of CREB transcription factor activity	Any process that activates or increases the frequency, rate or extent of activity of the transcription factor CREB.
positive regulation of cytosolic calcium ion concentration	Any process that increases the concentration of calcium ions in the cytosol.
positive regulation of insulin secretion involved in cellular response to glucose stimulus	Any process that increases the frequency, rate or extent of the regulated release of insulin that contributes to the response of a cell to glucose.
positive regulation of long-term synaptic depression	Any process that activates or increases the frequency, rate or extent of long term synaptic depression.
positive regulation of long-term synaptic potentiation	Any process that activates or increases the frequency, rate or extent of long-term synaptic potentiation.
positive regulation of synaptic plasticity	A process that increases synaptic plasticity, the ability of synapses to change as circumstances require. They may alter function, such as increasing or decreasing their sensitivity, or they may increase or decrease in actual numbers.
protein complex oligomerization	The process of creating protein oligomers, compounds composed of a small number, usually between three and ten, of component monomers; protein oligomers may be composed of different or identical monomers. Oligomers may be formed by the polymerization of a number of monomers or the depolymerization of a large protein polymer.
protein homooligomerization	The process of creating protein oligomers, compounds composed of a small number, usually between three and ten, of identical component monomers. Oligomers may be formed by the polymerization of a number of monomers or the depolymerization of a large protein polymer.
regulation of cellular response to stress	Any process that modulates the frequency, rate or extent of a cellular response to stress. Cellular response to stress is a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating the organism is under stress. The stress is usually, but not necessarily, exogenous (e.g. temperature, humidity, ionizing radiation).
regulation of cytosolic calcium ion concentration	Any process involved in the maintenance of an internal steady state of calcium ions within the cytosol of a cell or between the cytosol and its surroundings.
regulation of insulin secretion	Any process that modulates the frequency, rate or extent of the regulated release of insulin.
signal transduction	The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell.

6 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
O60503	ADCY9	Adenylate cyclase type 9	Homo sapiens (Human)	PR
O88444	Adcy1	Adenylate cyclase type 1	Mus musculus (Mouse)	PR
Q8VHH7	Adcy3	Adenylate cyclase type 3	Mus musculus (Mouse)	PR
P97490	Adcy8	Adenylate cyclase type 8	Mus musculus (Mouse)	PR
P21932	Adcy3	Adenylate cyclase type 3	Rattus norvegicus (Rat)	PR
P40146	Adcy8	Adenylate cyclase type 8	Rattus norvegicus (Rat)	PR

10	20	30	40	50	60
MELSDVRCLT	GSEELYTIHP	TPPAGDGRSA	SRPQRLLWQT	AVRHITEQRF	IHGHRGGSGS
70	80	90	100	110	120
GSGGSGKASD	PAGGGPNHHA	PQLSGDSALP	LYSLGPGERA	HSTCGTKVFP	ERSGSGSASG
130	140	150	160	170	180
SGGGGDLGFL	HLDCAPSNSD	FFLNGGYSYR	GVIFPTLRNS	FKSRDLERLY	QRYFLGQRRK
190	200	210	220	230	240
SEVVMNVLDV	LTKLTLLVLH	LSLASAPMDP	LKGILLGFFT	GIEVVICALV	VVRKDTTSHT
250	260	270	280	290	300
YLQYSGVVTW	VAMTTQILAA	GLGYGLLGDG	IGYVLFTLFA	TYSMLPLPLT	WAILAGLGTS
310	320	330	340	350	360
LLQVILQVVI	PRLAVISINQ	VVAQAVLFMC	MNTAGIFISY	LSDRAQRQAF	LETRRCVEAR
370	380	390	400	410	420
LRLETENQRQ	ERLVLSVLPR	FVVLEMINDM	TNVEDEHLQH	QFHRIYIHRY	ENVSILFADV
430	440	450	460	470	480
KGFTNLSTTL	SAQELVRMLN	ELFARFDRLA	HEHHCLRIKI	LGDCYYCVSG	LPEPRQDHAH
490	500	510	520	530	540
CCVEMGLSMI	KTIRYVRSRT	KHDVDMRIGI	HSGSVLCGVL	GLRKWQFDVW	SWDVDIANKL
550	560	570	580	590	600
ESGGIPGRIH	ISKATLDCLN	GDYNVEEGHG	KERNEFLRKH	NIETYLIKQP	EDSLLSLPED
610	620	630	640	650	660
IVKESVSSSD	RRNSGATFTE	GSWSPELPFD	NIVGKQNTLA	ALTRNSINLL	PNHLAQALHV
670	680	690	700	710	720
QSGPEEINKR	IEHTIDLRSG	DKLRREHIKP	FSLMFKDSSL	EHKYSQMRDE	VFKSNLVCAF
730	740	750	760	770	780
IVLLFITAIQ	SLLPSSRVMP	MTIQFSILIM	LHSALVLITT	AEDYKCLPLI	LRKTCCWINE
790	800	810	820	830	840
TYLARNVIIF	ASILINFLGA	ILNILWCDFD	KSIPLKNLTF	NSSAVFTDIC	SYPEYFVFTG
850	860	870	880	890	900
VLAMVTCAVF	LRLNSVLKLA	VLLIMIAIYA	LLTETVYAGL	FLRYDNLNHS	GEDFLGTKEV
910	920	930	940	950	960
SLLLMAMFLL	AVFYHGQQLE	YTARLDFLWR	VQAKEEINEM	KELREHNENM	LRNILPSHVA
970	980	990	1000	1010	1020
RHFLEKDRDN	EELYSQSYDA	VGVMFASIPG	FADFYSQTEM	NNQGVECLRL	LNEIIADFDE
1030	1040	1050	1060	1070	1080
LLGEDRFQDI	EKIKTIGSTY	MAVSGLSPEK	QQCEDKWGHL	CALADFSLAL	TESIQEINKH
1090	1100	1110	1120	1130	1140
SFNNFELRIG	ISHGSVVAGV	IGAKKPQYDI	WGKTVNLASR	MDSTGVSGRI	QVPEETYLIL
1150	1160	1170	1180	1190	1200
KDQGFAFDYR	GEIYVKGISE	QEGKIKTYFL	LGRVQPNPFI	LPPRRLPGQY	SLAAVVLGLV
1210	1220	1230	1240	1250
QSLNRQRQKQ	LLNENNNTGI	IKGHYNRRTL	LSPSGTEPGA	QAEGTDKSDL	P