AiPD: Autoinhibited Protein Database

P33402

Gene name	GUCY1A2 (GUC1A2, GUCSA2)
Protein name	Guanylate cyclase soluble subunit alpha-2
Names	GCS-alpha-2
Species	Homo sapiens (Human)
KEGG Pathway	hsa:2977
EC number	4.6.1.2: Phosphorus-oxygen lyases
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-139 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-139 (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 P33402

Entry ID	Method	Resolution	Chain	Position	Source
AF-P33402-F1	Predicted				AlphaFoldDB

492 variants for P33402

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA382853881 rs1469640895	3	R>G		No	ClinGen TOPMed
CA6260265 rs759260344	3	R>Q		No	ClinGen ExAC gnomAD
CA6260264 rs774207098	4	R>G		No	ClinGen ExAC TOPMed gnomAD
rs1035388043 CA228774562	4	R>K		No	ClinGen TOPMed
CA6260263 rs770545095	7	S>L		No	ClinGen ExAC gnomAD
rs200212839 CA382853842	9	E>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200212839 CA6260260	9	E>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6260258 rs780461944	12	S>I		No	ClinGen ExAC TOPMed gnomAD
rs1307734875 CA382853813	13	S>F		No	ClinGen TOPMed
rs1307734875 CA382853815	13	S>Y		No	ClinGen TOPMed
rs1280057539 CA382853804	15	G>A		No	ClinGen TOPMed
CA382853807 rs750619412	15	G>C		No	ClinGen ExAC TOPMed gnomAD
CA6260256 rs750619412	15	G>S		No	ClinGen ExAC TOPMed gnomAD
CA382853795 rs1251689662	17	D>H		No	ClinGen gnomAD
rs757283842 CA6260254	18	Y>N		No	ClinGen ExAC TOPMed gnomAD
rs1458290338 CA382853775	20	E>K		No	ClinGen gnomAD
rs1234651788 CA382853763	21	T>I		No	ClinGen gnomAD
rs1437121865 CA382853757	22	S>N		No	ClinGen gnomAD
rs1437457936 CA382853750	23	P>R		No	ClinGen gnomAD
CA382853754 rs1565361955	23	P>T		No	ClinGen Ensembl
rs760670533 CA6260251	26	E>D		No	ClinGen ExAC
rs1176807086 CA382853731	26	E>K		No	ClinGen TOPMed
CA6260252 rs763876485	26	E>V		No	ClinGen ExAC
CA6260250 rs752647076	27	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1591366348 CA382853711	29	C>G		No	ClinGen Ensembl
CA6260245 rs774118831	34	L>F		No	ClinGen ExAC gnomAD
CA382853681 rs774118831	34	L>I		No	ClinGen ExAC gnomAD
CA6260241 rs769254482	39	S>N		No	ClinGen ExAC gnomAD
rs1334330922 CA382853641	39	S>R		No	ClinGen gnomAD
CA6260243 rs201418928	39	S>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6260242 rs769254482	39	S>T		No	ClinGen ExAC gnomAD
CA382853637 rs1464296034	40	R>P		No	ClinGen TOPMed
rs934189892 CA228774560	42	P>A		No	ClinGen TOPMed
rs1437005979 CA382853623	42	P>L		No	ClinGen TOPMed gnomAD
rs1448150378 CA382853620	43	P>S		No	ClinGen TOPMed
CA382853615 rs1440814580	44	G>R		No	ClinGen gnomAD
CA6260240 rs747536208	45	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1591366293 CA382853594	47	E>D		No	ClinGen Ensembl
rs775909932 CA6260239	49	S>R		No	ClinGen ExAC TOPMed gnomAD
rs772392728 CA6260238	50	P>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	50	P>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1277229663 CA382853572	51	A>S		No	ClinGen TOPMed gnomAD
CA382853569 rs1338963069	51	A>V		No	ClinGen TOPMed
CA382853559 rs1196877389	53	A>G		No	ClinGen TOPMed
CA6260237 rs746261199	54	A>S		No	ClinGen ExAC gnomAD
CA382853551 rs1486540704	55	A>T		No	ClinGen TOPMed gnomAD
rs1179183915 CA382853545	56	A>T		No	ClinGen TOPMed
rs557033576 CA6260235	56	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA382853535 rs1200701684	57	A>V		No	ClinGen TOPMed
CA382853532 rs1317434872	58	A>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA382853528 rs1401860375	59	P>T		No	ClinGen TOPMed
rs1371935941 CA382853522	60	A>T		No	ClinGen gnomAD
rs777909425 CA6260233	60	A>V		No	ClinGen ExAC
CA382853514 rs752661539	61	P>L		No	ClinGen ExAC gnomAD
rs752661539 CA6260230	61	P>Q		No	ClinGen ExAC gnomAD
rs1565361817 CA382853515	61	P>S		No	ClinGen Ensembl
TCGA novel	61	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA382853510 rs1312648159	62	T>N		No	ClinGen gnomAD
rs1038332408 CA228774558	62	T>P		No	ClinGen Ensembl
CA382853506 rs1326142197	63	P>A		No	ClinGen TOPMed
CA382853502 rs1275186004	63	P>R		No	ClinGen Ensembl
rs1438201473 CA382853490	65	A>V		No	ClinGen Ensembl
CA6260225 rs575158116	67	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA382853475 rs1183984345	68	A>V		No	ClinGen gnomAD
rs1418608916 CA382853472	69	A>T		No	ClinGen gnomAD
CA382853467 rs1487446595	69	A>V		No	ClinGen TOPMed
rs1414562428 CA382853466	70	A>T		No	ClinGen TOPMed gnomAD
rs1565361757 CA382853448	73	T>S		No	ClinGen Ensembl
rs1565361753 CA382853437	74	A>V		No	ClinGen Ensembl
CA228774554 CA228774555 rs925199248	75	G>R		No	ClinGen TOPMed
rs1262456343 CA382853431	76	A>P		No	ClinGen gnomAD
rs772586787 CA6260215	77	R>S		No	ClinGen ExAC gnomAD
CA382853414 rs1360305709	78	R>S		No	ClinGen TOPMed
rs948066457 CA382853400	80	Q>H		No	ClinGen TOPMed
CA382853396 rs1273237680	81	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA382853394 rs1273237680	81	R>L		No	ClinGen gnomAD
CA6260213 rs774698599	82	R>Q		No	ClinGen ExAC gnomAD
CA6260214 rs746169387	82	R>W		No	ClinGen ExAC TOPMed gnomAD
rs960825754 CA228774552	84	R>G		No	ClinGen TOPMed
CA6260212 rs771355218	84	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA382853365 rs1383131017	87	L>M		No	ClinGen gnomAD
CA382853355 rs867033451	88	D>E		No	ClinGen TOPMed
CA6260211 rs749516556	89	S>A		No	ClinGen ExAC gnomAD
CA6260210 rs777908663	89	S>L		No	ClinGen ExAC TOPMed gnomAD
rs1281717118 CA382853337	92	E>K		No	ClinGen TOPMed gnomAD
rs1350576408 CA382853325	93	S>T		No	ClinGen gnomAD
CA382853285 rs1459891933	99	A>V		No	ClinGen gnomAD
rs1417424362 CA382853279	100	P>L		No	ClinGen gnomAD
COSM3791138 CA228774548 COSM3791137 rs761503334	101	S>L	Variant assessed as Somatic; impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs1169853043 CA382853240	103	Q>H		No	ClinGen TOPMed
rs768825523 CA6260166	104	T>M		No	ClinGen ExAC TOPMed gnomAD
rs1174402392 CA382853219	106	Q>H		No	ClinGen gnomAD
CA6260164 rs200383697	107	Q>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA228770816 rs77697942	107	Q>H		No	ClinGen Ensembl
CA6260162 rs140464048	110	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	111	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1428528546 CA382853185	112	T>A		No	ClinGen gnomAD
rs1175490541 CA382853179	113	L>V		No	ClinGen gnomAD
CA6260161 rs563972800	114	Q>H		No	ClinGen 1000Genomes ExAC gnomAD
CA228770815 rs181300526	114	Q>R		No	ClinGen 1000Genomes gnomAD
rs1181883675 CA382853161	116	Y>N		No	ClinGen gnomAD
CA382853153 rs1248023233	117	E>K		No	ClinGen gnomAD
TCGA novel	118	H>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA382853143 rs1194829485	118	H>Y		No	ClinGen gnomAD
CA6260157 TCGA novel rs188450102	119	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1486233034 CA382853134	119	Q>P		No	ClinGen gnomAD
rs752228585 CA6260156	121	I>N		No	ClinGen ExAC TOPMed gnomAD
rs752228585 CA228770814	121	I>T		No	ClinGen ExAC TOPMed gnomAD
CA382853097 rs1357588205	123	Y>H		No	ClinGen TOPMed gnomAD
rs774399208 CA6260142	124	R>G		No	ClinGen ExAC gnomAD
CA228769979 rs569241214	124	R>K		No	ClinGen gnomAD
CA6260141 rs770686572	126	A>T		No	ClinGen ExAC gnomAD
rs1318955102 CA382853073	126	A>V		No	ClinGen TOPMed gnomAD
rs1383821691 CA382853054	129	N>Y		No	ClinGen gnomAD
rs749115707 CA6260140	131	H>P		No	ClinGen ExAC gnomAD
rs749115707 CA382853037	131	H>R		No	ClinGen ExAC gnomAD
CA6260139 rs151242953	132	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA382853022 rs1419580247	133	I>T		No	ClinGen gnomAD
rs1461456681 CA382853025	133	I>V		No	ClinGen gnomAD
TCGA novel	137	C>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs780305147 CA228769978	137	C>R		No	ClinGen Ensembl
rs988580968 CA228769977	137	C>Y		No	ClinGen gnomAD
CA382852988 rs1205874822	138	S>F		No	ClinGen TOPMed
rs867388519 CA228769976	138	S>P		No	ClinGen Ensembl
CA382852980 rs1196006189	139	Y>*		No	ClinGen TOPMed gnomAD
rs1268283778 CA382852986	139	Y>H		No	ClinGen TOPMed
CA6260138 rs755779095	141	D>E		No	ClinGen ExAC TOPMed gnomAD
COSM1350639 CA382852964 rs1247552313	142	H>Y	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
TCGA novel	144	N>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6260136 rs780565592	145	K>R		No	ClinGen ExAC TOPMed gnomAD
rs1016861171 CA228769975	147	E>G		No	ClinGen TOPMed
TCGA novel	155	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6260130 rs199936980	156	Q>K		No	ClinGen ExAC gnomAD
CA6260129 rs764341871	158	T>I		No	ClinGen ExAC gnomAD
rs529533537	162	L>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA6260128 rs760973332	162	L>F		No	ClinGen ExAC TOPMed gnomAD
CA382852826 rs760973332	162	L>V		No	ClinGen ExAC TOPMed gnomAD
CA6260126 rs767475685	163	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA382852325 rs1202632638	165	K>E		No	ClinGen TOPMed gnomAD
CA382852313 rs1481977674	166	F>Y		No	ClinGen gnomAD
rs1211593443 CA382852281	170	Q>H		No	ClinGen gnomAD
CA382852272 rs1349944564	171	K>N		No	ClinGen gnomAD
TCGA novel	172	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6260102 rs769556757	172	R>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
TCGA novel	176	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1206163424 CA382852240	176	E>G		No	ClinGen gnomAD
CA6260100 rs776096280	177	F>Y		No	ClinGen ExAC gnomAD
CA6260098 rs746437486	179	N>S		No	ClinGen ExAC gnomAD
rs201149693 CA6260097	182	F>S		No	ClinGen 1000Genomes ExAC
rs1350330249 CA382852190	183	H>D		No	ClinGen gnomAD
CA382852183 rs1313859382	184	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs757595379 CA6260096	186	E>K		No	ClinGen ExAC TOPMed gnomAD
rs528016413 CA6260095	187	R>*		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	187	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs778467993 CA6260094	188	V>I		No	ClinGen ExAC gnomAD
rs1410221269 CA382852100	190	R>*		No	ClinGen gnomAD
rs756396584 CA6260093	190	R>L		No	ClinGen ExAC TOPMed gnomAD
rs1250875683 CA382852049	194	G>A		No	ClinGen gnomAD
CA382851917 rs764427823	202	G>R		No	ClinGen TOPMed gnomAD
rs764427823 CA228721973	202	G>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA382851907 rs1209272981	202	G>V		No	ClinGen TOPMed gnomAD
CA382851879 rs1591335696	204	D>G		No	ClinGen Ensembl
CA382851785 rs1328065027	210	I>M		No	ClinGen gnomAD
CA6260089 rs751846239	210	I>N		No	ClinGen ExAC gnomAD
rs751846239 CA6260090	210	I>T		No	ClinGen ExAC gnomAD
rs149424751 CA228721967	210	I>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA
rs1366077737 CA382851729	214	F>L		No	ClinGen TOPMed
rs766435185 CA6260088	216	K>E		No	ClinGen ExAC gnomAD
rs766435185 CA382851715	216	K>Q		No	ClinGen ExAC gnomAD
CA228721954 rs1002945129	216	K>R		No	ClinGen Ensembl
TCGA novel	217	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA382851669 rs1383672865	219	T>S		No	ClinGen TOPMed gnomAD
CA6260087 rs763071550	224	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1565337987 CA382851586	225	F>L		No	ClinGen Ensembl
rs1377368967 CA382851566	227	C>S		No	ClinGen gnomAD
rs765178829 CA6260085	231	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1226077710 CA382851515	234	T>A		No	ClinGen Ensembl
rs768398118 CA6260082	234	T>I		No	ClinGen ExAC gnomAD
rs760357937 CA6260081	235	L>V		No	ClinGen ExAC gnomAD
CA6260079 rs771675266	236	M>I		No	ClinGen ExAC gnomAD
rs368998458 CA6260080	236	M>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1253784921 CA382851497	237	L>I		No	ClinGen gnomAD
rs1486148902 CA382851480	238	H>R		No	ClinGen gnomAD
CA6260076 rs138928902	239	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs1206287467 CA382851470	239	Y>H		No	ClinGen gnomAD
CA382851445 rs1220516729	241	H>N		No	ClinGen TOPMed
CA6260075 rs748398069	241	H>R		No	ClinGen ExAC gnomAD
rs996048439 CA228721913	242	P>S		No	ClinGen gnomAD
rs996048439 CA382851428	242	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1320334733 CA382851393	244	H>R		No	ClinGen gnomAD
CA6260074 rs781616635	244	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs1215730244 CA382851372	245	I>M		No	ClinGen gnomAD
rs755357030 CA6260073	245	I>V		No	ClinGen ExAC TOPMed gnomAD
CA382851369 rs1193003835	246	V>M		No	ClinGen TOPMed
TCGA novel	248	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1319048242 CA382851275	253	M>L		No	ClinGen gnomAD
rs780296911 CA6260071	256	A>S		No	ClinGen ExAC gnomAD
CA382851196 rs1448936618	257	A>T		No	ClinGen TOPMed
CA6260070 rs556272121	257	A>V		No	ClinGen 1000Genomes ExAC gnomAD
CA6260068 rs758755207	259	K>E		No	ClinGen ExAC TOPMed gnomAD
rs757213327 CA6260067	262	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs763924611 CA382851116	263	R>L		No	ClinGen ExAC TOPMed gnomAD
CA6260065 rs763924611	263	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs753774502 CA6260066	263	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA6260064 rs760424256	265	D>G		No	ClinGen ExAC gnomAD
rs1348673345 CA382851099	265	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA228721863 rs1051975995	267	E>K		No	ClinGen gnomAD
rs1591335576 CA382851029	268	V>G		No	ClinGen Ensembl
CA382851019 rs1591335570	269	E>G		No	ClinGen Ensembl
rs767302848 CA6260062	270	Q>H		No	ClinGen ExAC gnomAD
CA382850987 rs1487293371	271	V>G		No	ClinGen gnomAD
rs543976307 CA6260061	272	A>G		No	ClinGen 1000Genomes ExAC gnomAD
rs1205662048 CA382850963	273	N>K		No	ClinGen gnomAD
CA228721847 rs377308440	276	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA6260057 rs777056077	278	S>F		No	ClinGen ExAC gnomAD
rs1305706684 CA382850884	279	D>N		No	ClinGen gnomAD
rs1591335541 CA382850876	279	D>V		No	ClinGen Ensembl
rs1385098386 CA382850869	280	V>I		No	ClinGen gnomAD
CA228721807 rs1041560990	283	P>L		No	ClinGen Ensembl
rs1299411930 CA382850814	284	G>D		No	ClinGen TOPMed
CA382850782 rs1339610767	286	C>W		No	ClinGen TOPMed
CA228721796 rs914532515	286	C>Y		No	ClinGen Ensembl
CA6260055 rs747395290	287	S>G		No	ClinGen ExAC gnomAD
CA382850764 rs1298921349	288	C>R		No	ClinGen gnomAD
rs1462327182 CA382850744	290	T>I		No	ClinGen gnomAD
CA6260054 rs780189867	294	K>E		No	ClinGen ExAC gnomAD
CA382850691 rs1166687899	294	K>R		No	ClinGen gnomAD
CA382850673 rs1448785182	295	E>G		No	ClinGen gnomAD
rs141054889 CA228721789	296	C>R		No	ClinGen ESP
rs1395219580 CA382850631	297	E>G		No	ClinGen gnomAD
CA382850594 rs1430883301	299	T>S		No	ClinGen gnomAD
rs1195965934 CA382850588	300	N>D		No	ClinGen gnomAD
rs779033772 CA6260051	300	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1186725605 CA382850571	301	I>T		No	ClinGen TOPMed
rs143618710 CA6260049	301	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA228721770 rs61736492	302	M>V		No	ClinGen ESP TOPMed gnomAD
rs1349254509 CA382850539	303	K>M		No	ClinGen TOPMed gnomAD
CA6260048 rs763966532	304	N>K		No	ClinGen ExAC TOPMed gnomAD
rs752556397 CA6260046	307	Q>R		No	ClinGen ExAC gnomAD
rs267602683 CA228721759	308	G>E		No	ClinGen Ensembl
TCGA novel	310	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6260043 rs773933882	312	V>L		No	ClinGen ExAC TOPMed gnomAD
rs765891557 CA6260042	313	P>T		No	ClinGen ExAC gnomAD
CA382850399 rs1428800185	314	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA382850383 rs1174204577	316	L>V		No	ClinGen gnomAD
rs777157547 CA6260040	317	R>G		No	ClinGen ExAC TOPMed gnomAD
CA228721738 rs964568916	318	I>L		No	ClinGen TOPMed gnomAD
rs769054219 CA6260039	319	S>C		No	ClinGen ExAC gnomAD
CA382850336 rs1420493170	319	S>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs747305478 CA6260038	320	I>V		No	ClinGen ExAC gnomAD
rs1199223871 CA382850195	328	P>L		No	ClinGen gnomAD
CA6260036 rs772482435	331	L>W		No	ClinGen ExAC gnomAD
TCGA novel	332	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA228721712 rs951507944	335	P>L		No	ClinGen Ensembl
CA6260034 rs779039637	336	S>T		No	ClinGen ExAC gnomAD
rs987446628 CA382850091	342	L>V		No	ClinGen TOPMed gnomAD
CA382850052 rs1591335404	348	K>E		No	ClinGen Ensembl
rs995691968 CA228721694	349	Q>H		No	ClinGen Ensembl
CA382850036 rs1241872177	350	L>F		No	ClinGen Ensembl
rs868075830 COSM1676413 CA228721685	351	R>*	Variant assessed as Somatic; impact. skin [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated Ensembl NCI-TCGA
CA382850031 rs1400948872	351	R>Q		No	ClinGen gnomAD
rs1158659122 CA382850025	352	C>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs756129641 CA6260030	353	D>N		No	ClinGen ExAC TOPMed gnomAD
rs1263876712 CA382850005	355	H>Y		No	ClinGen TOPMed
CA6260028 rs781121450	359	K>E		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	359	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs201939551 CA6260026	359	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs201939551 CA6260027	359	K>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs765981174 CA6260025	360	F>L		No	ClinGen ExAC TOPMed gnomAD
CA382849968 rs1442335514	360	F>L		No	ClinGen gnomAD
CA6260022 rs367879752	365	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1234102298 CA382849931	365	E>V		No	ClinGen gnomAD
CA382849907 rs1335277987	369	P>S		No	ClinGen gnomAD
TCGA novel	371	V>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs569688800 CA228721655	371	V>I		No	ClinGen TOPMed gnomAD
rs1160745728 CA382849889	372	N>D		No	ClinGen TOPMed
CA6260021 rs145600847	372	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6260020 rs776021630	373	A>V		No	ClinGen ExAC gnomAD
CA6260019 rs568958764	376	E>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	380	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs149775216 CA228721639	380	L>Q		No	ClinGen ESP gnomAD
rs759922033 CA6260018	381	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA228721631 rs774580694	382	L>M		No	ClinGen ExAC TOPMed gnomAD
CA6260014 rs777713959	385	P>L		No	ClinGen ExAC TOPMed gnomAD
rs777713959 CA382849813	385	P>Q		No	ClinGen ExAC TOPMed gnomAD
rs777713959 CA382849812	385	P>R		No	ClinGen ExAC TOPMed gnomAD
COSM540463 rs867033183 CA228721617	385	P>S	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated Ensembl NCI-TCGA
CA382849803 rs1472634930	387	V>M		No	ClinGen gnomAD
CA382849764 rs1307513048	392	P>L		No	ClinGen Ensembl
CA382849752 rs1247455533	394	A>G		No	ClinGen gnomAD
CA6260011 rs781319585	394	A>P		No	ClinGen ExAC gnomAD
CA382849754 rs781319585	394	A>S		No	ClinGen ExAC gnomAD
CA382849739 rs1214622475	396	G>V		No	ClinGen TOPMed gnomAD
CA382849734 rs1287913205	397	S>C		No	ClinGen gnomAD
CA382849737 rs1453527438	397	S>P		No	ClinGen gnomAD
TCGA novel	399	N>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6260010 rs754782095	400	K>E		No	ClinGen ExAC gnomAD
rs186283289 CA228721599	401	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen 1000Genomes NCI-TCGA
rs1296178089 CA382847409	403	V>L		No	ClinGen TOPMed
CA382847356 rs1302734708	405	E>K		No	ClinGen gnomAD
CA382847215 rs1340001100	412	H>D		No	ClinGen TOPMed
CA382847207 rs1431597449	412	H>R		No	ClinGen gnomAD
CA6259975 rs773528923	413	V>I		No	ClinGen ExAC gnomAD
rs1230447363 CA382847168	414	P>L		No	ClinGen TOPMed
CA382847100 rs1456910613	418	S>C		No	ClinGen gnomAD
rs1456910613 CA382847097	418	S>F		No	ClinGen gnomAD
CA6259973 rs761928697	419	I>V		No	ClinGen ExAC TOPMed gnomAD
CA6259972 rs776844283	422	L>V		No	ClinGen ExAC gnomAD
rs909785357 CA228595289 COSM1627742	423	G>V	liver [Cosmic]	No	ClinGen cosmic curated Ensembl
COSM3666060 rs1411566688 COSM1604010 CA382847035	424	S>F	liver [Cosmic]	No	ClinGen cosmic curated gnomAD
TCGA novel	425	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6259968 rs771719656	426	C>R		No	ClinGen ExAC gnomAD
CA382847012 rs1206501813	428	D>H		No	ClinGen gnomAD
CA382846982 rs1203378752	432	E>K		No	ClinGen Ensembl
CA382846964 rs1565297228	434	M>T		No	ClinGen Ensembl
rs1203649255 CA382846967	434	M>V		No	ClinGen gnomAD
CA228595276 COSM1474971 rs765520349	436	R>Q	Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA228595268 rs1021034208	445	I>F		No	ClinGen Ensembl
CA228595265 rs988088502	447	D>N		No	ClinGen Ensembl
rs1320238053 CA382846798	450	R>*		No	ClinGen gnomAD
rs777255899 CA6259963	450	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA228595257 rs867929158	461	A>T		No	ClinGen Ensembl
rs1367520250 CA382846554	463	D>G		No	ClinGen gnomAD
TCGA novel	466	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1591286522 CA382846400	474	A>E		No	ClinGen Ensembl
CA228595216 rs983266484	474	A>P		No	ClinGen TOPMed
TCGA novel	477	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1002873752 CA228595211	478	R>G		No	ClinGen Ensembl
CA6259958 rs750832807	480	H>Q		No	ClinGen ExAC gnomAD
rs1025558853 CA228595208	480	H>R		No	ClinGen Ensembl
CA6259957 rs145430438	481	Q>E		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	484	E>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs140112037 CA6259955	484	E>D		No	ClinGen ESP ExAC gnomAD
CA228595188 rs776789438	484	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	486	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1565297145 CA382846108	490	T>A		No	ClinGen Ensembl
CA382846074 rs1457760645	492	D>V		No	ClinGen TOPMed
TCGA novel	498	F>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs370955647 CA6259952	499	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA382845914 rs1331733503	502	V>I		No	ClinGen gnomAD
rs1036809671 CA228595125	507	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA6259948 rs374178173	509	G>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs774130759 CA6259949	509	G>R		No	ClinGen ExAC gnomAD
rs1281367945 CA382845677	511	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs748920637 CA6259947	511	Q>K		No	ClinGen ExAC gnomAD
rs777522221 CA6259946	513	Q>E		No	ClinGen ExAC gnomAD
TCGA novel	513	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA382845627 rs1372369108	513	Q>P		No	ClinGen TOPMed gnomAD
CA382845630 rs1372369108	513	Q>R		No	ClinGen TOPMed gnomAD
TCGA novel	514	A>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs769150259 CA6259945	515	R>S		No	ClinGen ExAC gnomAD
rs1461085926 CA382845553	516	K>N		No	ClinGen gnomAD
rs888130045 CA228595088	519	D>G		No	ClinGen Ensembl
rs747719759 CA6259944	519	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs780369830 COSM1350634 CA6259943	520	V>I	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA6259942 rs758951454	523	L>V		No	ClinGen ExAC gnomAD
rs757731985 CA6259939	528	V>I		No	ClinGen ExAC gnomAD
TCGA novel	529	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1250275030 CA382845240	530	F>S		No	ClinGen gnomAD
rs200047961 CA6259937	531	T>P		No	ClinGen ExAC gnomAD
rs752825157 CA382843745	533	I>L		No	ClinGen ExAC gnomAD
CA6259935 rs752825157	533	I>V		No	ClinGen ExAC gnomAD
CA228595029 rs1009281628	536	Q>R		No	ClinGen TOPMed gnomAD
rs759458010 CA6259933	540	M>L		No	ClinGen ExAC gnomAD
TCGA novel	544	S>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	558	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA382843079 rs1390742015	560	L>F		No	ClinGen gnomAD
rs774322851 CA6259932	560	L>W		No	ClinGen ExAC gnomAD
rs201999952	565	V>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	566	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6259909 rs762681075	567	T>I		No	ClinGen ExAC gnomAD
TCGA novel	569	G>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6259908 rs377255037	571	A>T		No	ClinGen ESP ExAC gnomAD
TCGA novel	573	C>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA382832322 rs1186022677	575	A>V		No	ClinGen gnomAD
CA382832317 rs1428098734	576	A>S		No	ClinGen gnomAD
CA382832157 rs1330453542	581	K>Q		No	ClinGen TOPMed
CA382832065 rs1190581873	583	L>P		No	ClinGen gnomAD
rs202036442 CA228581069	587	K>Q		No	ClinGen gnomAD
CA228581068 rs749940015	588	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA6259906 rs761502300	589	I>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA382831874 rs1356724995	590	A>G		No	ClinGen gnomAD
TCGA novel	592	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM3666058 CA228581066 COSM3666059 rs777351724	592	M>T	liver [Cosmic]	No	ClinGen cosmic curated Ensembl
CA6259905 COSM922574 rs776184273	593	A>V	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1381480995 CA382831735	595	K>R		No	ClinGen gnomAD
rs267602682 CA228581063	598	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	598	E>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6259903 rs267602682	598	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs933081226 CA228581061	600	S>A		No	ClinGen Ensembl
TCGA novel	600	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	603	V>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs774941160 CA6259902	603	V>L		No	ClinGen ExAC gnomAD
rs756486498 CA6259899	610	P>A		No	ClinGen ExAC TOPMed gnomAD
rs781424682 CA6259897	610	P>L		No	ClinGen ExAC TOPMed gnomAD
COSM161441 rs781424682 CA6259896	610	P>Q	breast [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs781424682 CA382831412	610	P>R		No	ClinGen ExAC TOPMed gnomAD
CA6259898 rs756486498	610	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1391259629 CA382831352	612	Q>H		No	ClinGen gnomAD
CA6259839 COSM281591 rs148799635	613	M>I	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC gnomAD
CA382308303 rs1591239599	620	G>A		No	ClinGen Ensembl
rs1054998865 COSM1209198 CA228559500	622	V>M	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs1565264171 CA382308290	623	L>M		No	ClinGen Ensembl
CA6259837 rs368161113	624	A>P		No	ClinGen ESP ExAC gnomAD
CA228559493 rs939414950	625	G>A		No	ClinGen gnomAD
rs1465561534 CA382308269	627	V>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs997553499 CA228559483	629	V>G		No	ClinGen Ensembl
rs1165477501 CA382308255	629	V>L		No	ClinGen TOPMed gnomAD
rs1165477501 CA382308256	629	V>M		No	ClinGen TOPMed gnomAD
CA382308251 rs1407002811	630	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA382308252 rs1407002811	630	R>G		No	ClinGen TOPMed gnomAD
rs771090233 CA6259834	630	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA6259833 rs749206025	633	R>C		No	ClinGen ExAC gnomAD
CA382308175 rs1184378677	641	V>F		No	ClinGen gnomAD
rs1391149705 CA382308170	642	T>A		No	ClinGen gnomAD
rs780831870 CA6259829	643	L>Q		No	ClinGen ExAC
CA382308142 rs1357925889	646	K>I		No	ClinGen gnomAD
TCGA novel	648	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6259825 rs765787733	649	S>L		No	ClinGen ExAC gnomAD
rs1283675493 CA382308097	652	H>Q		No	ClinGen TOPMed
CA382308091 rs1344376435	653	P>L		No	ClinGen gnomAD
rs764594827 CA6259822	654	R>G		No	ClinGen ExAC gnomAD
rs201162728 CA6259821 COSM540466	654	R>Q	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs764594827 CA6259823	654	R>W		No	ClinGen ExAC gnomAD
TCGA novel	655	R>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs767982659 CA6259819	655	R>C		No	ClinGen ExAC TOPMed gnomAD
rs759653669 CA6259818	655	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs774672627 CA6259817	656	I>V		No	ClinGen ExAC gnomAD
rs200176077 CA6259816	657	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200176077 CA382308075	657	N>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA382308070 rs1565264087	658	V>I		No	ClinGen Ensembl
rs769859518 CA6259813	661	T>A		No	ClinGen ExAC gnomAD
COSM244847 rs529839329 CA6259797	668	R>*	Variant assessed as Somatic; impact. prostate [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD
CA382309154 rs1202007346	668	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA6259796 rs773422498	671	S>N		No	ClinGen ExAC gnomAD
rs770060693 CA6259795	673	T>I		No	ClinGen ExAC gnomAD
CA6259794 COSM922573 rs748015731	676	P>L	Variant assessed as Somatic; 0.0 impact. large_intestine skin endometrium prostate [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
COSM1627741 rs1390362284 CA382309092	677	R>L	liver prostate [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs1390362284 CA382309094 COSM1241237	677	R>Q	oesophagus [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs768283586 CA6259792 COSM200466	677	R>W	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
COSM922572 CA6259791 rs184165416	678	S>P	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD
CA6259789 rs758037902 COSM1686163	679	R>C	skin [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA6259788 rs369582112	679	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
VAR_036420	681	E>V	a colorectal cancer sample; somatic mutation [UniProt]	No	UniProt
TCGA novel	682	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs911947268 CA228547315	683	P>S		No	ClinGen TOPMed gnomAD
CA6259787 rs778372562	684	D>G		No	ClinGen ExAC gnomAD
VAR_036421	685	N>T	a colorectal cancer sample; somatic mutation [UniProt]	No	UniProt
TCGA novel	686	F>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA382309039 rs1565258037	686	F>L		No	ClinGen Ensembl
rs573123185 CA6259786	688	K>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs376266445 CA6259784	691	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	691	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA382308996 rs1461044634	692	G>E		No	ClinGen gnomAD
rs1565258018 CA382308992	693	I>V		No	ClinGen Ensembl
rs145980079 CA6259782	695	Y>C		No	ClinGen ESP ExAC
TCGA novel	698	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA382308950 rs1565258011	699	V>I		No	ClinGen Ensembl
CA6259780 rs565090732	700	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs750726702 TCGA novel CA6259779	700	R>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen ExAC gnomAD
rs371655583 CA6259778	701	T>S		No	ClinGen ESP ExAC gnomAD
CA6259777 rs761987000	702	G>C		No	ClinGen ExAC gnomAD
rs776371580 CA6259776	702	G>D		No	ClinGen ExAC gnomAD
CA382308926 rs1349766016	703	P>R		No	ClinGen TOPMed
rs768640691 CA382308924	704	K>E		No	ClinGen ExAC gnomAD
rs768640691 CA6259775	704	K>Q		No	ClinGen ExAC gnomAD
CA382308912 rs1381625273	705	P>L		No	ClinGen gnomAD
rs915246779 CA228547226	706	P>A		No	ClinGen TOPMed
rs367780886 CA6259773	710	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
COSM3443022 rs1383258563 COSM227577 CA382308870	712	S>L	Variant assessed as Somatic; 0.0 impact. skin breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
COSM291718 rs745489122 CA6259771	713	S>L	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1196979498 CA382308868	713	S>P		No	ClinGen TOPMed
CA228547199 rs267602681	714	R>K		No	ClinGen Ensembl
rs989712281 CA228547179	715	I>L		No	ClinGen gnomAD
rs959526006 CA228547175	715	I>M		No	ClinGen Ensembl
CA6259769 rs770296793	717	K>T		No	ClinGen ExAC gnomAD
TCGA novel	718	V>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6259768 rs748846335	718	V>I		No	ClinGen ExAC gnomAD
rs61903147 CA228547151	719	S>T		No	ClinGen Ensembl
CA382308811 rs1195550502	722	I>V		No	ClinGen gnomAD
rs1259379286 CA382308803	723	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA228547140 rs553102686	724	T>I		No	ClinGen gnomAD
rs1591230009 CA382308799	724	T>P		No	ClinGen Ensembl
CA6259765 rs752064510	725	M>L		No	ClinGen ExAC gnomAD
rs965708632 CA228547139	726	F>S		No	ClinGen Ensembl
rs1351686379 CA382308778	727	L>I		No	ClinGen gnomAD
COSM403650 rs1243168006 CA382308770	728	R>Q	lung large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
CA382308768 rs1591229998	729	E>K		No	ClinGen Ensembl
rs758878132 CA6259763	730	T>K		No	ClinGen ExAC gnomAD
CA6259762 rs750636548	732	L>V		No	ClinGen ExAC gnomAD
TCGA novel	733	L>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA671280055 rs1299895926	733	L>Y		No	ClinGen TOPMed

No associated diseases with P33402

3 regional properties for P33402

Type	Name	Position	InterPro Accession
repeat	Mitochondrial substrate/solute carrier	57 - 143	IPR018108-1
repeat	Mitochondrial substrate/solute carrier	154 - 241	IPR018108-2
repeat	Mitochondrial substrate/solute carrier	255 - 334	IPR018108-3

Functions

		Description
EC Number	4.6.1.2	Phosphorus-oxygen lyases
Subcellular Localization	Cytoplasm
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

1 GO annotations of cellular component

Name	Definition
guanylate cyclase complex, soluble	Complex that possesses guanylate cyclase activity and is not bound to a membrane.

3 GO annotations of molecular function

Name	Definition
GTP binding	Binding to GTP, guanosine triphosphate.
guanylate cyclase activity	Catalysis of the reaction: GTP = 3',5'-cyclic GMP + diphosphate.
heme binding	Binding to a heme, a compound composed of iron complexed in a porphyrin (tetrapyrrole) ring.

5 GO annotations of biological process

Name	Definition
cGMP-mediated signaling	Any intracellular signal transduction in which the signal is passed on within the cell via cyclic GMP (cGMP). Includes production of cGMP, and downstream effectors that further transmit the signal within the cell.
nitric oxide mediated signal transduction	Any intracellular signal transduction in which the signal is passed on within the cell via nitric oxide (NO). Includes synthesis of nitric oxide, receptors/sensors for nitric oxide (such as soluble guanylyl cyclase/sGC) and downstream effectors that further transmit the signal within the cell. Nitric oxide transmits its downstream effects through either cyclic GMP (cGMP)-dependent or independent mechanisms.
positive regulation of nitric oxide mediated signal transduction	Any process that increases the rate, frequency or extent of nitric oxide mediated signal transduction. Nitric oxide mediated signal transduction is The series of molecular signals mediated by the detection of nitric oxide (NO).
response to oxygen levels	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus reflecting the presence, absence, or concentration of oxygen.
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.

2 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
O75343	GUCY1B2	Guanylate cyclase soluble subunit beta-2	Homo sapiens (Human)	PR
P90895	F56F10.1	Soluble guanylate cyclase gcy-33	Caenorhabditis elegans	PR

10	20	30	40	50	60
MSRRKISSES	FSSLGSDYLE	TSPEEEGECP	LSRLCWNGSR	SPPGPLEPSP	AAAAAAAAPA
70	80	90	100	110	120
PTPAASAAAA	AATAGARRVQ	RRRRVNLDSL	GESISRLTAP	SPQTIQQTLK	RTLQYYEHQV
130	140	150	160	170	180
IGYRDAEKNF	HNISNRCSYA	DHSNKEEIED	VSGILQCTAN	ILGLKFEEIQ	KRFGEEFFNI
190	200	210	220	230	240
CFHENERVLR	AVGGTLQDFF	NGFDALLEHI	RTSFGKQATL	ESPSFLCKEL	PEGTLMLHYF
250	260	270	280	290	300
HPHHIVGFAM	LGMIKAAGKK	IYRLDVEVEQ	VANEKLCSDV	SNPGNCSCLT	FLIKECENTN
310	320	330	340	350	360
IMKNLPQGTS	QVPADLRISI	NTFCRAFPFH	LMFDPSMSVL	QLGEGLRKQL	RCDTHKVLKF
370	380	390	400	410	420
EDCFEIVSPK	VNATFERVLL	RLSTPFVIRT	KPEASGSENK	DKVMEVKGQM	IHVPESNSIL
430	440	450	460	470	480
FLGSPCVDKL	DELMGRGLHL	SDIPIHDATR	DVILVGEQAK	AQDGLKKRMD	KLKATLERTH
490	500	510	520	530	540
QALEEEKKKT	VDLLYSIFPG	DVAQQLWQGQ	QVQARKFDDV	TMLFSDIVGF	TAICAQCTPM
550	560	570	580	590	600
QVISMLNELY	TRFDHQCGFL	DIYKVETIGD	AYCVAAGLHR	KSLCHAKPIA	LMALKMMELS
610	620	630	640	650	660
EEVLTPDGRP	IQMRIGIHSG	SVLAGVVGVR	MPRYCLFGNN	VTLASKFESG	SHPRRINVSP
670	680	690	700	710	720
TTYQLLKREE	SFTFIPRSRE	ELPDNFPKEI	PGICYFLEVR	TGPKPPKPSL	SSSRIKKVSY
730
NIGTMFLRET	SL