AiPD: Autoinhibited Protein Database

Q16280

Gene name	CNGA2 (CNCA, CNCA1, CNCG2)
Protein name	Cyclic nucleotide-gated olfactory channel
Names	Cyclic nucleotide-gated cation channel 2, Cyclic nucleotide-gated channel alpha-2, CNG channel alpha-2, CNG-2, CNG2
Species	Homo sapiens (Human)
KEGG Pathway	hsa:1260
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-150 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-150 (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 Q16280

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q16280-F1	Predicted				AlphaFoldDB

480 variants for Q16280

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1306443344 CA415272184	2	T>P		No	ClinGen gnomAD
rs769231187 CA10541653	3	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs139232978 CA10541654	4	K>E		No	ClinGen ESP ExAC TOPMed
rs747735929 CA10541655	5	T>A		No	ClinGen ExAC gnomAD
rs1033589039	5	T>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM1201522 rs771830593 CA10541656	5	T>N	lung Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA337415919 rs1018596411	6	N>K		No	ClinGen TOPMed gnomAD
rs1343376012 CA415272212	6	N>S		No	ClinGen gnomAD
rs746796108 CA10541658	8	V>G		No	ClinGen ExAC
rs773056408 CA10541657	8	V>M		No	ClinGen ExAC TOPMed gnomAD
COSM1466368 CA10541661 rs751965597	10	S>N	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC gnomAD
CA415272233 rs1488408593	10	S>R		No	ClinGen gnomAD
CA10541660 rs751965597	10	S>T		No	ClinGen 1000Genomes ExAC gnomAD
rs765259218 CA10541662	11	S>P		No	ClinGen ExAC gnomAD
CA415272248 rs1569427566	12	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA10541664 rs761937144	12	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1296257121 CA415272256	14	N>D		No	ClinGen TOPMed
CA415272267 rs142562634	15	N>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs188269270 CA10541666	15	N>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
RCV000966120 rs142562634 CA10541665	15	N>T		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
TCGA novel	16	H>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA337415936 rs952741761	16	H>Q		No	ClinGen TOPMed gnomAD
rs1028778052 CA337415938	18	H>Y		No	ClinGen Ensembl
rs1349236372 CA415272304	20	A>V		No	ClinGen gnomAD
rs1603007625 CA415272308	21	P>L		No	ClinGen Ensembl
rs150994680 CA337415941	21	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA10541667 rs150994680	21	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1294801254 CA415272325	24	I>T		No	ClinGen gnomAD
CA10541668 rs766685052	27	N>S		No	ClinGen ExAC gnomAD
TCGA novel	28	G>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs755412260 CA10541670	28	G>C		No	ClinGen ExAC TOPMed gnomAD
CA415272384 rs1366910521	32	H>Q		No	ClinGen gnomAD
rs779524501 CA10541671	34	T>A		No	ClinGen ExAC gnomAD
CA10541672 rs146494392	35	S>I		No	ClinGen 1000Genomes ExAC gnomAD
rs758048775 CA10541673	35	S>R		No	ClinGen ExAC gnomAD
CA10541674 rs200529056	36	S>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA10541688 rs755429961	38	P>L		No	ClinGen ExAC
rs754131755 CA10541687	38	P>S		No	ClinGen ExAC gnomAD
CA415272437 rs1328739967	39	H>P		No	ClinGen gnomAD
rs765658762 CA10541689	39	H>Q		No	ClinGen ExAC gnomAD
rs1409473842 CA415272454	42	A>P		No	ClinGen gnomAD
CA415272459 rs1412242426	43	D>N		No	ClinGen gnomAD
CA415272470 rs1359381560	44	D>G		No	ClinGen gnomAD
rs940460528 CA415272467	44	D>N		No	ClinGen TOPMed
rs940460528 CA337416006	44	D>Y		No	ClinGen TOPMed
CA337416008 rs939014394	46	T>I		No	ClinGen TOPMed gnomAD
rs867541345 CA337416011	48	S>*		No	ClinGen Ensembl
rs1376438596 CA415272494	48	S>P		No	ClinGen gnomAD
CA337416013 rs376229621	49	E>K		No	ClinGen ESP TOPMed
rs1436892221 CA415272512	51	Q>*		No	ClinGen TOPMed
CA10541692 rs777378134	52	R>S		No	ClinGen ExAC gnomAD
CA10541693 rs746556535	54	A>P		No	ClinGen ExAC TOPMed gnomAD
rs746556535 CA337416023	54	A>T		No	ClinGen ExAC TOPMed gnomAD
CA10541694 rs756947232	54	A>V		No	ClinGen ExAC gnomAD
CA415272544 rs1569427640	56	V>M		No	ClinGen Ensembl
rs901553855 CA337416028	57	D>E		No	ClinGen gnomAD
CA10541695 rs780952706	59	P>S		No	ClinGen ExAC gnomAD
CA415272587 rs1182871569	62	G>A		No	ClinGen gnomAD
TCGA novel	62	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1476796057 CA415272590	63	R>K		No	ClinGen gnomAD
rs1171473956 CA415272602	64	S>R		No	ClinGen gnomAD
CA10541697 rs769562221	65	G>V		No	ClinGen ExAC TOPMed gnomAD
CA337416034 rs139547840	67	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA TOPMed gnomAD
CA415272617 rs139547840	67	R>G		No	ClinGen ESP TOPMed gnomAD
CA415272618 rs1369041743	67	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA415272621 rs1330193493	68	R>G		No	ClinGen gnomAD
CA415272645 rs1371878871	69	I>M		No	ClinGen gnomAD
rs149746449 COSM1715794 CA10541710	71	R>C	Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs377556030 COSM1466369 CA10541711	71	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs192241740 CA10541712	73	V>E		No	ClinGen 1000Genomes ExAC gnomAD
COSM1176571 rs952151969 CA337416185	73	V>M	endometrium [Cosmic]	No	ClinGen cosmic curated Ensembl
CA10541714 rs371038847	77	R>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA415272693 COSM1117030 rs1290473022	78	E>*	Variant assessed as Somatic; 0.0 impact. endometrium breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs144004735 CA10541715 CA10541716 COSM755906	81	N>K	Variant assessed as Somatic; 0.0 impact. lung [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1228597351 CA415272742	84	F>L		No	ClinGen TOPMed
COSM1117031 CA10541718 rs778881389	85	R>*	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs374533370 CA10541719	85	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA415272747 rs1375093549	86	E>K		No	ClinGen gnomAD
TCGA novel	87	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs916274982 CA337416202	87	E>K		No	ClinGen TOPMed
rs1391435408 CA415272762	88	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs962296192 CA337416205	89	P>L		No	ClinGen Ensembl
rs1472002702 CA415272770	89	P>T		No	ClinGen gnomAD
rs1163230216 CA415272777	90	R>K		No	ClinGen gnomAD
rs1395850748 CA415272787	91	P>L		No	ClinGen gnomAD
rs770978183 CA10541720	92	D>A		No	ClinGen ExAC TOPMed gnomAD
CA10541721 rs776589519	94	F>L		No	ClinGen ExAC TOPMed gnomAD
rs1388188099 CA415272809	95	L>F		No	ClinGen gnomAD
TCGA novel	96	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA415272816 rs1338532435	96	E>A		No	ClinGen gnomAD
rs147842635 CA10541723	96	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA10541725 COSM258597 rs141559818	97	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs561786347 VAR_036603 CA337416221 COSM25573	97	R>H	breast a breast cancer sample; somatic mutation [Cosmic, UniProt]	No	ClinGen cosmic curated UniProt dbSNP gnomAD
rs141559818 CA415272821	97	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
COSM1715795 rs764689669 CA10541726	99	R>C	Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs752041390 COSM3721287 CA10541728	99	R>H	upper_aerodigestive_tract [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs752041390 CA10541727 COSM611604	99	R>L	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs767000810 CA10541729	101	P>L		No	ClinGen ExAC gnomAD
TCGA novel	102	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA415272889 rs1569427766	108	T>P		No	ClinGen Ensembl
rs940512262 CA337416227	110	E>K		No	ClinGen TOPMed
rs377114471 CA10541730 CA415272908	111	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs753620005 CA10541733	112	D>H		No	ClinGen ExAC
rs144366408 RCV000902859 CA10541734	113	G>V		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1454353401 CA415272945	116	D>E		No	ClinGen gnomAD
CA10541736 rs748063457 COSM1715796	116	D>N	Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
RCV000961846 rs6627455 CA10541737 VAR_048748	118	D>H		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
TCGA novel	118	D>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1569427778 CA415272961	119	G>S		No	ClinGen Ensembl
CA10541738 rs149176714	120	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs774905906 COSM1248530 CA10541740	121	D>G	oesophagus [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA10541741 rs775918550	122	K>E		No	ClinGen ExAC gnomAD
CA10541742 rs749521661	124	T>I		No	ClinGen ExAC TOPMed gnomAD
rs749521661 CA337416249	124	T>N		No	ClinGen ExAC TOPMed gnomAD
CA415273025 COSM1466371 rs1392643398	126	K>N	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA10541752 rs372267863	127	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs1330185689 CA415273038	128	F>C		No	ClinGen TOPMed gnomAD
CA10541753 rs764964759	131	F>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs143283368 CA10541754	132	V>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA415273070 rs1203444334	133	L>W		No	ClinGen gnomAD
rs1183067081 CA415273101	138	D>H		No	ClinGen TOPMed
VAR_061107 rs35350051 CA10541756	139	W>L		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA10541757 rs375501678	140	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA10541758 rs756193162	141	Y>F		No	ClinGen ExAC TOPMed
rs780291182 CA10541759	148	A>S		No	ClinGen ExAC gnomAD
COSM1638272 rs749470454 CA10541760	148	A>V	bone [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA10541762 rs138496370	151	V>I	Variant assessed as Somatic; 0.0001256 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1463428237 CA415273246	159	V>L		No	ClinGen gnomAD
CA10541765 rs143040813	160	A>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs143040813 CA10541766	160	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1202816501 CA415273278	162	A>D		No	ClinGen TOPMed
rs1233986133 CA415273284	163	C>Y		No	ClinGen gnomAD
rs1338484154 CA415273287	164	F>I		No	ClinGen TOPMed
TCGA novel	167	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA415273335 rs1316659525	170	G>D		No	ClinGen gnomAD
rs776095236 CA10541786	172	Y>H		No	ClinGen ExAC gnomAD
TCGA novel	174	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10541787 rs759102423	174	V>M		No	ClinGen ExAC TOPMed gnomAD
CA10541788 rs200195669	177	V>G		No	ClinGen ExAC gnomAD
CA10541792 rs763743247	178	L>R		No	ClinGen ExAC gnomAD
rs774938551 CA10541790	178	L>V		No	ClinGen ExAC gnomAD
rs761808187 CA10541794	179	D>E		No	ClinGen ExAC
rs751398488 CA10541793	179	D>G		No	ClinGen ExAC gnomAD
CA10541795 rs767613759	180	Y>S		No	ClinGen ExAC
CA10541796 rs753957826	187	I>M		No	ClinGen ExAC gnomAD
CA10541797 RCV000933809 rs773467562	188	A>V		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs1318609100 CA415273479	193	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs139084709 COSM1117034 CA10541799	193	R>Q	endometrium Variant assessed as Somatic; 0.0001264 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs777961623 CA10541801	195	R>C		No	ClinGen ExAC gnomAD
rs375875187 CA10541802	195	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs764432677 CA10541820	201	Q>R		No	ClinGen ExAC
TCGA novel	205	V>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs148670521 CA10541823	206	K>E		No	ClinGen ESP ExAC TOPMed
CA415273570 rs1288669473	206	K>R		No	ClinGen TOPMed
rs142147240 CA10541824	207	D>E		No	ClinGen ESP ExAC
CA16042216 RCV000412551 rs1057519072	212	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD
rs756672330 RCV000937445 CA10541825	212	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
CA10541827 rs748875319	214	N>Y		No	ClinGen ExAC gnomAD
CA10541829 rs761332883	217	H>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA10541830 rs747811111	218	T>I		No	ClinGen ExAC gnomAD
CA415273655 rs1212748466	219	L>Q		No	ClinGen gnomAD
CA415273661 rs1325846598	220	Q>P		No	ClinGen gnomAD
CA337417187 rs867845623	221	F>L		No	ClinGen Ensembl
CA10541831 rs771939174	227	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA10541832 rs773164303	229	I>T		No	ClinGen ExAC TOPMed gnomAD
CA10541833 rs760489873	230	P>S		No	ClinGen ExAC gnomAD
COSM456981 rs775411517 CA10541835	232	D>N	Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA
CA415273771 rs1432604859	237	A>S		No	ClinGen TOPMed
rs1395307747 CA415273801	241	H>L		No	ClinGen gnomAD
CA10541837 rs764161862	241	H>Y		No	ClinGen ExAC gnomAD
rs751721587 CA10541838	242	S>N		No	ClinGen ExAC TOPMed gnomAD
rs767825547 CA10541840	245	V>E		No	ClinGen ExAC gnomAD
CA10541839 rs757491877	245	V>L		No	ClinGen ExAC gnomAD
rs1409853271 CA415273831	246	R>C		No	ClinGen gnomAD
CA415273832 COSM1132373 rs1329646888	246	R>H	prostate [Cosmic]	No	ClinGen cosmic curated gnomAD
CA10541841 rs766958484	247	F>L		No	ClinGen 1000Genomes ExAC gnomAD
rs201870506 CA10541842	247	F>S		No	ClinGen 1000Genomes ExAC gnomAD
rs1240438963 CA415273845	248	N>S		No	ClinGen TOPMed
COSM256661 rs780670790 CA10541843	249	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1569428488 CA415273851	249	R>H		No	ClinGen Ensembl
rs1236228804 COSM1237739 CA415273865	252	H>Y	thyroid [Cosmic]	No	ClinGen cosmic curated gnomAD
COSM1117035 CA10541844 rs748747201	255	R>C	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs754448035 COSM1117036 CA10541845	255	R>H	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs375492989 CA10541846	256	M>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA415273898 rs1603011000	257	F>I		No	ClinGen Ensembl
TCGA novel	258	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs771882154 CA10541848	262	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs747754116 CA10541847	262	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA337417217 rs1041570194	264	E>K		No	ClinGen Ensembl
COSM1169191 rs187014401 CA10541849	266	R>C	pancreas [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs746872122 CA10541850	266	R>H		No	ClinGen ExAC TOPMed gnomAD
CA10541851 rs770767034	267	T>A		No	ClinGen ExAC TOPMed gnomAD
rs1371647578 CA415273968	267	T>I		No	ClinGen gnomAD
CA415273972 rs1341105266	268	N>T		No	ClinGen TOPMed
rs776563648 CA10541852	270	P>L		No	ClinGen ExAC gnomAD
rs753169347 CA10541853	271	N>I		No	ClinGen 1000Genomes ExAC gnomAD
rs753169347 CA415273993	271	N>S		No	ClinGen 1000Genomes ExAC gnomAD
CA337417228 rs771999167	274	R>C		No	ClinGen gnomAD
CA10541855 rs151204211	274	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs370205402 CA10541856	276	S>N		No	ClinGen ESP ExAC gnomAD
rs375317479 CA10541858	281	Y>S		No	ClinGen ESP ExAC gnomAD
rs761171327 CA10541859	282	I>N		No	ClinGen ExAC gnomAD
rs766660955 CA10541860	284	V>A		No	ClinGen ExAC TOPMed gnomAD
CA415274092 rs1273223303	286	I>T		No	ClinGen gnomAD
CA415274112 rs1469550830	289	N>H		No	ClinGen gnomAD
CA415274138 rs1260568148	292	I>T		No	ClinGen gnomAD
CA415274135 rs1206486529	292	I>V		No	ClinGen gnomAD
CA10541863 rs140912877	294	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA415274149 rs1446851874	294	Y>H		No	ClinGen gnomAD
rs368109097 CA10541866	300	I>K		No	ClinGen ESP ExAC gnomAD
CA415274192 rs368109097	300	I>T		No	ClinGen ESP ExAC gnomAD
TCGA novel	301	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10541868 rs770700157	305	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs770700157 CA415274222	305	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA415274238 rs1384512891	307	W>S		No	ClinGen gnomAD
CA415274246 rs1212671237	308	V>D		No	ClinGen TOPMed
rs1443854988 CA415274249	309	Y>N		No	ClinGen TOPMed
CA10541869 rs781158777	311	N>D		No	ClinGen 1000Genomes ExAC gnomAD
rs1270412517 CA415274266	311	N>S		No	ClinGen TOPMed
rs1194825077 CA415274278	313	T>A		No	ClinGen TOPMed
CA10541870 rs745771268	315	P>S		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	316	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
RCV000917582 CA10541871 rs148951437	318	G>D		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs774388503 CA10541872	319	Y>*		No	ClinGen ExAC gnomAD
CA10541873 rs761935491	322	R>G		No	ClinGen ExAC gnomAD
CA10541875 rs773419617	325	I>T		No	ClinGen ExAC gnomAD
CA10541876 rs760823954	332	T>I		No	ClinGen ExAC gnomAD
CA415274421 rs1183569188	334	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs145829193 CA10541877	338	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1264241957 CA415274451	339	G>E		No	ClinGen gnomAD
rs760090374 CA10541879	342	P>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	344	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10541880 rs765894732	350	Y>F		No	ClinGen ExAC gnomAD
rs1402557966 CA415274550	354	I>V		No	ClinGen TOPMed
TCGA novel	355	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1164657481 CA415274559	355	F>Y		No	ClinGen gnomAD
CA10541881 rs752243694	359	I>T		No	ClinGen ExAC gnomAD
CA415274600 rs1415157334	361	V>A		No	ClinGen TOPMed
rs41289500 CA10541883	361	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs751173769 CA10541884	362	L>P		No	ClinGen ExAC
rs1160105080 CA415274636	367	I>F		No	ClinGen gnomAD
CA415274637 rs1395890143	367	I>T		No	ClinGen gnomAD
CA415274643 rs1433831802	368	V>L		No	ClinGen TOPMed gnomAD
rs1433831802 CA415274641 COSM611596	368	V>M	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA415274647 rs1313477554	369	G>R		No	ClinGen gnomAD
rs781005682 CA10541886	371	V>M		No	ClinGen ExAC gnomAD
rs763082241 CA415274681	374	M>K		No	ClinGen ExAC TOPMed gnomAD
rs745698313 CA10541887	374	M>L		No	ClinGen ExAC gnomAD
rs763082241 CA10541888	374	M>T		No	ClinGen ExAC TOPMed gnomAD
rs145140674 CA337417286	375	I>T		No	ClinGen ESP
CA10541889 rs780030911	376	S>C		No	ClinGen ExAC gnomAD
CA415274696 rs1457886188	377	N>H		No	ClinGen TOPMed
rs879255388 RCV000239319 CA10586043	378	M>V		No	ClinGen ClinVar dbSNP gnomAD
CA10541890 rs190235182	379	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs147982375 CA337417295	382	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs147982375 CA10541892	382	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs772082842 CA10541891	382	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1486904078 CA415274733	383	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs747214127 CA10541893	385	F>L		No	ClinGen ExAC TOPMed gnomAD
CA337417297 rs201839589	385	F>S		No	ClinGen gnomAD
CA415274759 rs1249840545	386	Q>H		No	ClinGen gnomAD
rs950021351 CA337417299	388	K>N		No	ClinGen TOPMed gnomAD
rs771102269 CA10541894	389	I>M		No	ClinGen ExAC TOPMed gnomAD
CA337417307 rs924411492	390	D>A		No	ClinGen Ensembl
CA10541896 rs375373217	390	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs765837704 CA10541897	391	A>V		No	ClinGen ExAC gnomAD
CA10541898 rs371987829	392	V>M		No	ClinGen ExAC TOPMed gnomAD
rs200521778 CA10541899	394	H>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs763616745 CA10541900	395	Y>H		No	ClinGen ExAC gnomAD
rs1336906199 CA415274819	396	M>V		No	ClinGen gnomAD
TCGA novel	397	Q>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10541902 rs372801718	397	Q>L		No	ClinGen ESP ExAC TOPMed gnomAD
COSM1466374 CA10541903 rs141614710	399	R>*	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA10541904 RCV000973007 VAR_036604 rs150539917 COSM32556	399	R>Q	endometrium breast a breast cancer sample; somatic mutation [Cosmic, UniProt]	No	ClinGen cosmic curated ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1369719543 CA415274853	401	V>I		No	ClinGen gnomAD
rs755841985 CA10541905	402	S>T		No	ClinGen ExAC gnomAD
TCGA novel	406	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA337417320 rs866130959	406	E>K		No	ClinGen Ensembl
CA10541908 rs754939798	407	A>T		No	ClinGen ExAC gnomAD
CA415274900 rs1159611500	407	A>V		No	ClinGen TOPMed
TCGA novel	409	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA415274916 rs1251210745	410	I>V		No	ClinGen gnomAD
CA337417325 rs866573072	412	W>C		No	ClinGen TOPMed
rs777882225 CA10541909	415	Y>C		No	ClinGen ExAC
CA415274954 rs1481037487	415	Y>H		No	ClinGen gnomAD
rs1239584689 CA415274964	416	L>*		No	ClinGen TOPMed
CA415274970 rs1191259793	417	W>*		No	ClinGen TOPMed
CA415274981 rs1200588206	418	T>I		No	ClinGen gnomAD
rs747110357 CA10541910	421	K>E		No	ClinGen ExAC gnomAD
CA10541911 rs200939277	422	T>A		No	ClinGen 1000Genomes ExAC gnomAD
rs1487887560 CA415275008	422	T>R		No	ClinGen TOPMed
rs1194051902 CA415275024	425	E>K		No	ClinGen gnomAD
CA415275033 rs1396710739	426	R>*		No	ClinGen TOPMed gnomAD
rs1396710739 CA415275032	426	R>G		No	ClinGen TOPMed gnomAD
CA337417334 rs866580601	427	E>*		No	ClinGen Ensembl
CA415275051 rs1223683140	429	L>I		No	ClinGen TOPMed
rs776787921 CA10541912	430	K>N		No	ClinGen ExAC gnomAD
CA415275064 rs1169733027	431	N>H		No	ClinGen gnomAD
rs199869471 CA337417338	431	N>K		No	ClinGen 1000Genomes
TCGA novel	432	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs770232273 CA10541914	433	P>S		No	ClinGen ExAC gnomAD
CA415275085 rs1314997244	434	A>G		No	ClinGen TOPMed
CA415275081 rs1441472202	434	A>T		No	ClinGen gnomAD
CA415275111 rs1441127017	438	A>D		No	ClinGen TOPMed gnomAD
CA415275113 rs1441127017	438	A>V		No	ClinGen TOPMed gnomAD
COSM1556720 CA415275114 rs1301502750	439	E>K	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs764557841 CA10541917	440	I>T		No	ClinGen ExAC gnomAD
CA10541918 rs773897889	443	N>S		No	ClinGen ExAC gnomAD
CA337417348 rs773897889	443	N>T		No	ClinGen ExAC gnomAD
CA10541920 rs367749104	444	V>A		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	445	H>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1220549518 CA415275154	445	H>Y		No	ClinGen TOPMed gnomAD
rs750022179 CA10541921	448	T>I		No	ClinGen ExAC
rs899215351 CA337417358	450	K>E		No	ClinGen TOPMed
rs755787323 CA10541922 COSM1582817	453	R>C	Variant assessed as Somatic; 0.0 impact. stomach [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA
CA10541923 rs201053120	453	R>H		No	ClinGen ExAC TOPMed gnomAD
rs755787323 CA337417361 COSM611594	453	R>S	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA
CA10541924 rs371422872	454	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1248666579 CA415275220	455	F>L		No	ClinGen gnomAD
rs778777736 CA10541926	457	D>E		No	ClinGen ExAC gnomAD
rs1569428660 CA415275244	458	C>W		No	ClinGen Ensembl
rs188603275 CA10541927	460	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	461	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1019815014 CA337417371	465	E>G		No	ClinGen Ensembl
CA10541928 rs147417217	465	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA415275290 rs1171398986	466	L>R		No	ClinGen TOPMed
rs1478737457 CA415275311	470	L>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA10541929 rs781441988	471	R>C		No	ClinGen ExAC gnomAD
rs964132649 CA337417374	471	R>H		No	ClinGen gnomAD
CA415275330 rs1461482273	473	Q>R		No	ClinGen gnomAD
CA337417377 rs1026292819	475	F>S		No	ClinGen TOPMed
rs746044630 CA10541930	476	S>G		No	ClinGen ExAC gnomAD
rs770177138 CA10541931	476	S>I		No	ClinGen ExAC gnomAD
rs1166300766 CA415275358	477	P>L		No	ClinGen gnomAD
TCGA novel	477	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA415275379 rs1192417524	480	Y>*		No	ClinGen TOPMed
CA415275375 rs1425278801	480	Y>D		No	ClinGen TOPMed
CA415275393 rs1363308799	482	C>F		No	ClinGen gnomAD
rs1603011552 CA415275390	482	C>S		No	ClinGen Ensembl
rs769200795 CA10541934	483	R>C		No	ClinGen ExAC TOPMed gnomAD
rs374694060 CA10541935	483	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA10541936 rs762393248	484	K>E		No	ClinGen ExAC gnomAD
CA415275414 rs1292306787	486	D>N		No	ClinGen gnomAD
TCGA novel	487	I>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs760289901 CA10541939	487	I>V		No	ClinGen ExAC gnomAD
CA10541942 rs759318571	488	G>S		No	ClinGen ExAC gnomAD
CA10541943 rs765087610	491	M>I		No	ClinGen ExAC gnomAD
CA337417403 rs111580433	494	I>T		No	ClinGen Ensembl
rs750575362 CA10541947	496	E>G		No	ClinGen ExAC
rs781386759 CA10541946	496	E>K		No	ClinGen ExAC gnomAD
rs781386759 CA415275485	496	E>Q		No	ClinGen ExAC gnomAD
CA415275505 rs1569428697	499	L>M		No	ClinGen Ensembl
rs977311724 CA337417410	501	V>M		No	ClinGen Ensembl
CA415275540 rs1158866897 COSM2152073	504	D>E	central_nervous_system [Cosmic]	No	ClinGen cosmic curated gnomAD
TCGA novel	505	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1569428705 CA415275554	506	G>V		No	ClinGen Ensembl
rs768843324 CA10541951	508	T>I		No	ClinGen ExAC gnomAD
TCGA novel	509	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1032735907 CA415275570	509	Q>L		No	ClinGen TOPMed gnomAD
rs1032735907 CA337417414	509	Q>R		No	ClinGen TOPMed gnomAD
CA10541953 rs369362557	514	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs760240751 CA10541956	515	A>S		No	ClinGen ExAC gnomAD
rs1223476328 CA415275607	516	G>R		No	ClinGen gnomAD
CA337417421 rs865860886	517	S>G		No	ClinGen Ensembl
rs770570094 CA10541957	518	C>R		No	ClinGen ExAC gnomAD
CA10541959 rs759242456	521	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA
CA10541960 rs764898570	522	I>F		No	ClinGen ExAC gnomAD
TCGA novel	523	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10541961 rs752573922	525	L>F		No	ClinGen ExAC gnomAD
rs1569428721 CA415275694	528	K>M		No	ClinGen Ensembl
CA10541963 rs762773972 CA10541964	532	M>I		No	ClinGen ExAC gnomAD
rs1230627063 CA415275723	532	M>T		No	ClinGen gnomAD
TCGA novel	532	M>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	533	G>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA415275736 rs1177492818	534	N>I		No	ClinGen TOPMed gnomAD
rs959972258 CA337417440	535	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA10541965 rs142292266	536	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs756195328 CA10541966	536	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1255207413 CA415275774	540	I>M		No	ClinGen TOPMed
rs755262067 CA10541970	541	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA10541971 rs372834980	541	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs755262067 CA10541969	541	R>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel CA415275785 rs1202632536	542	S>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen TOPMed NCI-TCGA
rs1343907172 CA415275788	543	L>R		No	ClinGen TOPMed gnomAD
CA415275801 rs1278852284	545	Y>C		No	ClinGen TOPMed
CA337417461 rs1053322598	548	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA415275833 rs1221020217	550	C>R		No	ClinGen TOPMed
CA415275854 rs1379324610	553	K>E		No	ClinGen TOPMed gnomAD
CA10541974 rs147644460	553	K>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA415275875 rs1189086988	555	D>E		No	ClinGen TOPMed gnomAD
rs919906098 CA337417469	561	T>I		No	ClinGen Ensembl
rs1427232449 CA415275919	562	E>A		No	ClinGen TOPMed gnomAD
COSM755895 rs1172670572 CA415275930	563	Y>*	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1270792990 CA415275925	563	Y>H		No	ClinGen TOPMed gnomAD
TCGA novel	564	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA415275962 rs1436779071	568	K>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA415275965 rs1204536607	568	K>R		No	ClinGen TOPMed gnomAD
CA337417472 rs760995900	569	V>I		No	ClinGen Ensembl
TCGA novel	571	E>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1239621803 CA415275994	573	R>G		No	ClinGen gnomAD
rs769531682 CA10541978	573	R>K		No	ClinGen ExAC
CA415276000 rs1373746283	574	G>S		No	ClinGen gnomAD
CA415276007 rs762872027	575	R>L		No	ClinGen ExAC TOPMed gnomAD
CA10541981 rs762872027	575	R>P		No	ClinGen ExAC TOPMed gnomAD
CA10541980 rs762872027	575	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA10541979 rs144286627	575	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA415276017 rs1172026309	577	I>F		No	ClinGen gnomAD
rs900006328 CA337417482	577	I>M		No	ClinGen Ensembl
CA10541982 rs146609667	577	I>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs146609667 CA337417479	577	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	579	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs761863203 COSM1117042 CA10541983	579	M>T	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA10541984 rs766528944	581	E>G		No	ClinGen ExAC TOPMed gnomAD
CA415276042 rs1175703747	581	E>K		No	ClinGen TOPMed
CA10541985 rs751760949	582	G>R		No	ClinGen 1000Genomes ExAC gnomAD
CA10541986 rs376503338	584	L>P		No	ClinGen ESP ExAC gnomAD
CA10541988 rs753002646	587	N>I		No	ClinGen ExAC gnomAD
rs758699633 COSM1117043 CA10541989	588	E>K	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA10541990 rs187775416	590	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10541991 rs747469259	592	S>R		No	ClinGen ExAC gnomAD
rs757798666 CA10541992	593	M>T		No	ClinGen ExAC gnomAD
rs753503269 CA337417502	593	M>V		No	ClinGen gnomAD
CA415276135 rs1342672015	595	V>A		No	ClinGen TOPMed
CA415276132 rs780543284	595	V>I		No	ClinGen ExAC TOPMed
rs780543284 CA10541993	595	V>L		No	ClinGen ExAC TOPMed
TCGA novel	596	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA415276137 rs1253237724	596	D>N		No	ClinGen TOPMed gnomAD
rs369458388 CA415276146	597	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA10541997 rs369458388	597	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1240874459 CA415276160	599	E>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA415276179 rs1171506839	602	G>R		No	ClinGen gnomAD
CA415276218 rs373994233 CA10542000	607	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs761812213 CA10542001	608	M>L		No	ClinGen ExAC gnomAD
TCGA novel	609	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10542002 rs376885069	612	Y>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA415276260 rs1406881980	613	T>I		No	ClinGen gnomAD
TCGA novel	613	T>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10542003 rs371324596	614	R>C		No	ClinGen ExAC TOPMed gnomAD
rs765240604 CA10542005	614	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA10542004 rs371324596	614	R>S		No	ClinGen ExAC TOPMed gnomAD
CA10542006 rs141325552	617	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs767609888 CA10542007 COSM239362	617	R>H	lung Variant assessed as Somatic; 0.0 impact. prostate [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA415276289 rs1273444973	619	L>Q		No	ClinGen gnomAD
TCGA novel	620	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA415276295 rs1467216907	620	A>V		No	ClinGen TOPMed
rs969937452 CA337417524	623	T>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1212042146 COSM1117044 CA415276319	624	G>R	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA10542012 rs750897875	625	A>G		No	ClinGen ExAC gnomAD
TCGA novel	625	A>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA415276356 rs1195084528 COSM1165453	629	L>F	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1569428813 CA415276361	630	K>E		No	ClinGen Ensembl
rs138926894 CA10542014	631	Q>*		No	ClinGen ESP ExAC TOPMed
CA337417530 rs149002674 COSM206159	632	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP NCI-TCGA gnomAD
CA415276377 rs1187225200	632	R>H		No	ClinGen TOPMed gnomAD
rs1309560278 CA415276395	635	V>L		No	ClinGen TOPMed
TCGA novel	638	T>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10542015 rs143042099	639	K>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs1157021922 CA415276427	640	M>L		No	ClinGen TOPMed gnomAD
CA415276444 rs1322240424	642	Q>*		No	ClinGen TOPMed
TCGA novel	643	N>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1387341073 CA415276459	644	N>D		No	ClinGen TOPMed
TCGA novel	644	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs778831788 CA10542017	645	E>*		No	ClinGen ExAC gnomAD
rs748014247 CA10542018	645	E>D		No	ClinGen ExAC TOPMed gnomAD
CA415276472 rs1296159793	646	D>N		No	ClinGen TOPMed
CA10542020 rs371216439	647	D>N		No	ClinGen ESP ExAC gnomAD
rs769871966 CA10542022	651	D>H		No	ClinGen ExAC gnomAD
rs1353523359 CA415276525	653	M>I		No	ClinGen gnomAD
CA415276523 rs1278559845	653	M>T		No	ClinGen gnomAD
CA337417542 rs202132873	658	L>M		No	ClinGen Ensembl
rs1288787981 CA415276565	659	A>D		No	ClinGen gnomAD
rs775581844 CA10542023	659	A>S		No	ClinGen ExAC gnomAD
rs1603012015 CA415276570	660	A>S		No	ClinGen Ensembl
rs1484953124 CA415276579	661	A>V		No	ClinGen gnomAD
rs756192921 CA10542026 CA10542027	662	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs764355736 CA10542025	662	D>G		No	ClinGen ExAC gnomAD
CA415276580 rs1210284448	662	D>N		No	ClinGen gnomAD
CA10542029 VAR_048749 rs714147	663	E>K		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs779583744 CA10542031	664	P>L		No	ClinGen ExAC TOPMed gnomAD
rs756609004 CA10542030	664	P>T		No	ClinGen ExAC gnomAD

No associated diseases with Q16280

5 regional properties for Q16280

Type	Name	Position	InterPro Accession
domain	Cyclic nucleotide-binding domain	454 - 578	IPR000595
domain	Ion transport domain	141 - 381	IPR005821
conserved_site	Cyclic nucleotide-binding, conserved site	481 - 497	IPR018488-1
conserved_site	Cyclic nucleotide-binding, conserved site	519 - 542	IPR018488-2
domain	Cyclic nucleotide-gated channel, C-terminal leucine zipper domain	570 - 638	IPR032406

Functions

		Description
EC Number
Subcellular Localization	Cell projection, cilium membrane ; Multi-pass membrane protein
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

4 GO annotations of cellular component

Name	Definition
ciliary membrane	The portion of the plasma membrane surrounding a cilium.
Golgi-associated vesicle membrane	The lipid bilayer surrounding a vesicle associated with the Golgi apparatus.
intracellular cyclic nucleotide activated cation channel complex	A protein complex that forms a transmembrane channel through which cations ions may pass in response to an intracellular cyclic nucleotide binding to the channel complex or one of its constituent parts.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

6 GO annotations of molecular function

Name	Definition
calmodulin binding	Binding to calmodulin, a calcium-binding protein with many roles, both in the calcium-bound and calcium-free states.
cAMP binding	Binding to cAMP, the nucleotide cyclic AMP (adenosine 3',5'-cyclophosphate).
cGMP binding	Binding to cGMP, the nucleotide cyclic GMP (guanosine 3',5'-cyclophosphate).
intracellular cAMP-activated cation channel activity	Enables the transmembrane transfer of a cation by a channel that opens when intracellular cAMP has been bound by the channel complex or one of its constituent parts.
intracellular cGMP-activated cation channel activity	Enables the transmembrane transfer of a cation by a channel that opens when intracellular cGMP has been bound by the channel complex or one of its constituent parts.
protein-containing complex binding	Binding to a macromolecular complex.

3 GO annotations of biological process

Name	Definition
cation transmembrane transport	The process in which a cation is transported across a membrane.
response to stimulus	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. The process begins with detection of the stimulus and ends with a change in state or activity or the cell or organism.
sensory perception of smell	The series of events required for an organism to receive an olfactory stimulus, convert it to a molecular signal, and recognize and characterize the signal. Olfaction involves the detection of chemical composition of an organism's ambient medium by chemoreceptors. This is a neurological process.

15 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q03041	CNGA2	Cyclic nucleotide-gated olfactory channel	Bos taurus (Bovine)	PR
Q29441	CNGA3	Cyclic nucleotide-gated cation channel alpha-3	Bos taurus (Bovine)	PR
Q00194	CNGA1	cGMP-gated cation channel alpha-1	Bos taurus (Bovine)	PR
Q90805		Cyclic nucleotide-gated channel cone photoreceptor subunit alpha	Gallus gallus (Chicken)	PR
Q90980		Cyclic nucleotide-gated channel rod photoreceptor subunit alpha	Gallus gallus (Chicken)	PR
P29973	CNGA1	cGMP-gated cation channel alpha-1	Homo sapiens (Human)	PR
Q16281	CNGA3	Cyclic nucleotide-gated cation channel alpha-3	Homo sapiens (Human)	PR
P29974	Cnga1	cGMP-gated cation channel alpha-1	Mus musculus (Mouse)	PR
Q9JJZ8	Cnga3	Cyclic nucleotide-gated cation channel alpha-3	Mus musculus (Mouse)	PR
Q62398	Cnga2	Cyclic nucleotide-gated olfactory channel	Mus musculus (Mouse)	PR
Q62927	Cnga1	cGMP-gated cation channel alpha-1	Rattus norvegicus (Rat)	PR
Q00195	Cnga2	Cyclic nucleotide-gated olfactory channel	Rattus norvegicus (Rat)	PR
Q9SKD7	CNGC3	Probable cyclic nucleotide-gated ion channel 3	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9SU64	CNGC16	Probable cyclic nucleotide-gated ion channel 16	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9LDR2	CNGC19	Putative cyclic nucleotide-gated ion channel 19	Arabidopsis thaliana (Mouse-ear cress)	PR

10	20	30	40	50	60
MTEKTNGVKS	SPANNHNHHA	PPAIKANGKD	DHRTSSRPHS	AADDDTSSEL	QRLADVDAPQ
70	80	90	100	110	120
QGRSGFRRIV	RLVGIIREWA	NKNFREEEPR	PDSFLERFRG	PELQTVTTQE	GDGKGDKDGE
130	140	150	160	170	180
DKGTKKKFEL	FVLDPAGDWY	YCWLFVIAMP	VLYNWCLLVA	RACFSDLQKG	YYLVWLVLDY
190	200	210	220	230	240
VSDVVYIADL	FIRLRTGFLE	QGLLVKDTKK	LRDNYIHTLQ	FKLDVASIIP	TDLIYFAVDI
250	260	270	280	290	300
HSPEVRFNRL	LHFARMFEFF	DRTETRTNYP	NIFRISNLVL	YILVIIHWNA	CIYYAISKSI
310	320	330	340	350	360
GFGVDTWVYP	NITDPEYGYL	AREYIYCLYW	STLTLTTIGE	TPPPVKDEEY	LFVIFDFLIG
370	380	390	400	410	420
VLIFATIVGN	VGSMISNMNA	TRAEFQAKID	AVKHYMQFRK	VSKGMEAKVI	RWFDYLWTNK
430	440	450	460	470	480
KTVDEREILK	NLPAKLRAEI	AINVHLSTLK	KVRIFHDCEA	GLLVELVLKL	RPQVFSPGDY
490	500	510	520	530	540
ICRKGDIGKE	MYIIKEGKLA	VVADDGVTQY	ALLSAGSCFG	EISILNIKGS	KMGNRRTANI
550	560	570	580	590	600
RSLGYSDLFC	LSKDDLMEAV	TEYPDAKKVL	EERGREILMK	EGLLDENEVA	TSMEVDVQEK
610	620	630	640	650	660
LGQLETNMET	LYTRFGRLLA	EYTGAQQKLK	QRITVLETKM	KQNNEDDYLS	DGMNSPELAA

ADEP