AiPD: Autoinhibited Protein Database

O60741

Gene name	HCN1 (BCNG1)
Protein name	Potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 1
Names	Brain cyclic nucleotide-gated channel 1 , BCNG-1
Species	Homo sapiens (Human)
KEGG Pathway	hsa:348980
EC number
Protein Class

Descriptions

Hyperpolarization-activated cyclic nucleotide-gated (HCN) ion channels contribute to electrical activity in neurons and cardiomyocytes. HCN1-4 share a similar multidomain organization with an N-terminal transmembrane region, a C-terminal intracellular region (IR) and a cyclic nucleotide-binding domain (CBD). Channel opening is primarily stimulated by transmembrane elements that sense membrane hyperpolarization. In the absence of cAMP, the CBD shows steric clashes with the C-linker within IR, which become energetically unfavored. The steric clashes are eliminated by cAMP binding, which selects for a CBD state devoid of steric clashes with the tetrameric C-linker and facilitates channel opening.

Autoinhibitory domains (AIDs)

401-474 (C-terminal intracellular region) SS

Target domain	143-402 (Ion transport domain)
Relief mechanism	Ligand binding
Assay

AID

401-474 (C-terminal intracellular region)

Target domain

143-402 (Ion transport domain)

Relief mechanism

Ligand binding (cAMP binding to CBD domain)

Assay

475-590 (CBD domain) SS

Target domain	143-402 (Ion transport domain)
Relief mechanism	Ligand binding
Assay

AID

475-590 (CBD domain)

Target domain

143-402 (Ion transport domain)

Relief mechanism

Ligand binding (cAMP binding to CBD domain)

Assay

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

Wicks NL et al. (2011) "Cytoplasmic cAMP-sensing domain of hyperpolarization-activated cation (HCN) channels uses two structurally distinct mechanisms to regulate voltage gating", Proceedings of the National Academy of Sciences of the United States of America, 108, 609-14

Akimoto M et al. (2014) "A mechanism for the auto-inhibition of hyperpolarization-activated cyclic nucleotide-gated (HCN) channel opening and its relief by cAMP", The Journal of biological chemistry, 289, 22205-20

Xu X et al. (2010) "Structural basis for the cAMP-dependent gating in the human HCN4 channel", The Journal of biological chemistry, 285, 37082-91

Autoinhibited structure

Activated structure

5 structures for O60741

Entry ID	Method	Resolution	Chain	Position	Source
5U6O	EM	350 A	A/B/C/D	1-890	PDB
5U6P	EM	351 A	A/B/C/D	1-890	PDB
6UQF	EM	304 A	A/B/C/D	1-890	PDB
6UQG	EM	354 A	A/B/C/D	1-890	PDB
AF-O60741-F1	Predicted				AlphaFoldDB

698 variants for O60741

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1580055165 RCV000801317	1	M>missing	Early infantile epileptic encephalopathy with suppression bursts [ClinVar]	Yes	ClinVar dbSNP
rs1739994846 RCV001247201	1	M>missing	Early infantile epileptic encephalopathy with suppression bursts [ClinVar]	Yes	ClinVar dbSNP
CA359706909 rs1554040148 RCV000636488	9	S>P	Early infantile epileptic encephalopathy with suppression bursts [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000813799 CA359706861 rs1283834151	16	D>N	Early infantile epileptic encephalopathy with suppression bursts [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
CA16611998 RCV000462613 rs1060500096	23	A>V	Early infantile epileptic encephalopathy with suppression bursts [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
rs1469192494 RCV001360732 RCV001336535	25	A>E	Early infantile epileptic encephalopathy with suppression bursts Developmental and epileptic encephalopathy, 24 [ClinVar]	Yes	ClinVar dbSNP
rs1740005870 RCV001057738	27	A>T	Early infantile epileptic encephalopathy with suppression bursts [ClinVar]	Yes	ClinVar dbSNP
RCV000513246 RCV002318494 CA16611919 RCV000462927 VAR_061105 rs56164833	42	P>S	Early infantile epileptic encephalopathy with suppression bursts Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar UniProt TOPMed dbSNP gnomAD
CA16612082 rs1060500095 RCV000477132	43	P>L	Early infantile epileptic encephalopathy with suppression bursts [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
CA359706688 rs1421975269 RCV001066173 CA359706686	44	G>R	Early infantile epileptic encephalopathy with suppression bursts [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV002313025 CA238962 RCV000173511 RCV000469190 rs544994462 RCV001618325 VAR_071825	47	G>V	Early infantile epileptic encephalopathy with suppression bursts Inborn genetic diseases DEE24; likely benign variant [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
CA359706628 RCV000636366 rs1554040137	53	H>P	Early infantile epileptic encephalopathy with suppression bursts [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV002313153 RCV000734431 RCV001764368 CA359706627 CA3259509 RCV000457427 rs10066808	53	H>Q	Early infantile epileptic encephalopathy with suppression bursts Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1245405853 CA359706625 RCV001266029	54	G>R	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV001071822 rs900254081 RCV002554634 CA118329975	61	V>L	Early infantile epileptic encephalopathy with suppression bursts Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV000539382 rs1554040132	67	G>missing	Early infantile epileptic encephalopathy with suppression bursts [ClinVar]	Yes	ClinVar dbSNP
rs748849525 RCV000551860 RCV002316536	67	G>missing	Early infantile epileptic encephalopathy with suppression bursts Inborn genetic diseases [ClinVar]	Yes	ClinVar dbSNP
rs1427664939 RCV002313570 CA359706538	67	G>R	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
rs774065762 RCV001346329	69	G>missing	Early infantile epileptic encephalopathy with suppression bursts [ClinVar]	Yes	ClinVar dbSNP
rs774065762 RCV001211617	69	G>missing	Early infantile epileptic encephalopathy with suppression bursts [ClinVar]	Yes	ClinVar dbSNP
RCV000695103 rs1485709375 RCV002317921 RCV002253568	70	G>missing	Early infantile epileptic encephalopathy with suppression bursts Inborn genetic diseases [ClinVar]	Yes	ClinVar dbSNP
RCV001302175 RCV002511075 rs747975797	71	G>missing	Early infantile epileptic encephalopathy with suppression bursts [ClinVar]	Yes	ClinVar dbSNP
RCV002418432 RCV001729606 RCV000476818 rs56064803 RCV001729605 RCV001252506	72	G>missing	Early infantile epileptic encephalopathy with suppression bursts Intellectual disability Inborn genetic diseases [ClinVar]	Yes	ClinVar dbSNP
rs56064803 RCV002311699 RCV001080810 RCV000082059 RCV000711880	72	G>missing	Early infantile epileptic encephalopathy with suppression bursts Inborn genetic diseases [ClinVar]	Yes	ClinVar dbSNP
rs747975797 RCV002316537 RCV000545196 RCV001788280 RCV000173513	72	G>missing	Early infantile epileptic encephalopathy with suppression bursts Inborn genetic diseases [ClinVar]	Yes	ClinVar dbSNP
RCV000173510 RCV000513768 rs747975797 RCV001080821 RCV002312704 RCV000987523	72	G>missing	Developmental and epileptic encephalopathy, 24 Early infantile epileptic encephalopathy with suppression bursts Inborn genetic diseases [ClinVar]	Yes	ClinVar dbSNP
RCV001079666 RCV000592162 rs747975797 RCV002311361 RCV000440326	73	G>missing	Early infantile epileptic encephalopathy with suppression bursts Inborn genetic diseases [ClinVar]	Yes	ClinVar dbSNP
rs747975797 RCV000802189 RCV003133630	73	G>missing	Early infantile epileptic encephalopathy with suppression bursts [ClinVar]	Yes	ClinVar dbSNP
rs1193693102 RCV001041096	74	G>missing	Early infantile epileptic encephalopathy with suppression bursts [ClinVar]	Yes	ClinVar dbSNP
RCV003129866 RCV002429562 RCV000475843 rs747975797 RCV000380928	74	G>missing	Early infantile epileptic encephalopathy with suppression bursts Inborn genetic diseases [ClinVar]	Yes	ClinVar dbSNP
RCV000705338 rs747975797 RCV001766556 RCV000987522 RCV002424712	74	G>missing	Early infantile epileptic encephalopathy with suppression bursts Developmental and epileptic encephalopathy, 24 Inborn genetic diseases [ClinVar]	Yes	ClinVar dbSNP
RCV001726489 RCV001343108 rs754966256	76	E>missing	Early infantile epileptic encephalopathy with suppression bursts [ClinVar]	Yes	ClinVar dbSNP
rs754990881 RCV001221517	80	G>C	Early infantile epileptic encephalopathy with suppression bursts [ClinVar]	Yes	ClinVar dbSNP
CA359706459 RCV000594451 RCV001203205 rs1252720341	80	G>D	Early infantile epileptic encephalopathy with suppression bursts Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar NCI-TCGA dbSNP gnomAD
VAR_082653	85	E>A	GEFSP10; unknown pathological significance [UniProt]	Yes	UniProt
CA10605797 RCV001294379 RCV000288763 rs868228427	85	E>D	Early infantile epileptic encephalopathy with suppression bursts [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV001484249 CA3259488 rs760568557	86	G>R	Early infantile epileptic encephalopathy with suppression bursts [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV002316539 CA3259486 RCV000547258 rs370113959	87	P>S	Early infantile epileptic encephalopathy with suppression bursts Variant assessed as Somatic; 0.0 impact. Inborn genetic diseases [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs774375241 RCV001350797 CA3259484	88	R>G	Early infantile epileptic encephalopathy with suppression bursts [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs1739997928 RCV001041830	89	R>Q	Early infantile epileptic encephalopathy with suppression bursts [ClinVar]	Yes	ClinVar dbSNP
rs747066400 RCV002279964 RCV000818909	92	G>missing	Early infantile epileptic encephalopathy with suppression bursts [ClinVar]	Yes	ClinVar dbSNP
rs1255874115 RCV000800057	93	F>missing	Early infantile epileptic encephalopathy with suppression bursts [ClinVar]	Yes	ClinVar dbSNP
RCV001344227 CA3259476 CA359706368 rs748665278 RCV001336534	94	M>I	Developmental and epileptic encephalopathy, 24 Early infantile epileptic encephalopathy with suppression bursts [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs773441535 RCV000702096 CA3259478	94	M>V	Early infantile epileptic encephalopathy with suppression bursts [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000998381 RCV002549089 CA359706348 rs1580055035	97	Q>R	Early infantile epileptic encephalopathy with suppression bursts [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001054782 rs1739996970	99	T>G	Early infantile epileptic encephalopathy with suppression bursts [ClinVar]	Yes	ClinVar dbSNP
RCV001308984 CA3259471 rs780364002	100	S>A	Early infantile epileptic encephalopathy with suppression bursts [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA163272 RCV001054783 rs587777492 RCV000128459 VAR_071826	100	S>F	Early infantile epileptic encephalopathy with suppression bursts Developmental and epileptic encephalopathy, 24 Variant assessed as Somatic; impact. DEE24; dominant-negative mutation resulting in gain of channel function [ClinVar, NCI-TCGA, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl NCI-TCGA dbSNP
rs1456742212 RCV001064376 CA359706322	101	M>I	Early infantile epileptic encephalopathy with suppression bursts [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV001351279 rs1739995339	128	K>R	Early infantile epileptic encephalopathy with suppression bursts [ClinVar]	Yes	ClinVar dbSNP
rs1554040120 RCV000590947	137	P>*	Developmental and epileptic encephalopathy, 24 [ClinVar]	Yes	ClinVar dbSNP
VAR_082654	143	F>Y	DEE24; unknown pathological significance [UniProt]	Yes	UniProt
RCV002318199 CA118324615 RCV002260665 RCV001868371 rs890733454	151	I>V	Early infantile epileptic encephalopathy with suppression bursts Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000786046 RCV000417011 VAR_078216 rs1057519548 TCGA novel CA16044318	153	M>I	Developmental and epileptic encephalopathy, 24 Variant assessed as Somatic; impact. DEE24; affects channel gating properties; the half-activation voltage is shifted to the depolarizing direction; significantly faster activation and slower deactivation kinetics than wild-type channel [ClinVar, NCI-TCGA, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP NCI-TCGA
rs1561230606 VAR_082655 RCV000786053 CA359707844	157	L>V	Generalized epilepsy with febrile seizures plus, type 10 GEFSP10; unknown pathological significance; reduced current density; affects channel gating properties as the half-activation voltage is shifted to the depolarizing direction; neurons expressing mutant channels show increased excitability [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
rs1745533139 RCV001066815	159	I>M	Early infantile epileptic encephalopathy with suppression bursts [ClinVar]	Yes	ClinVar dbSNP
VAR_082656	171	T>R	GEFSP10; unknown pathological significance [UniProt]	Yes	UniProt
VAR_082657	172	T>P	GEFSP10; unknown pathological significance [UniProt]	Yes	UniProt
CA16611854 rs1060500097 RCV000469716	186	F>L	Early infantile epileptic encephalopathy with suppression bursts [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs1444972054 RCV000559668 CA359707510	206	I>V	Early infantile epileptic encephalopathy with suppression bursts [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs1745529939 RCV001252507	221	W>R	Intellectual disability [ClinVar]	Yes	ClinVar dbSNP
RCV001210919 CA3259424 rs754468811	226	F>L	Early infantile epileptic encephalopathy with suppression bursts [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
CA359707347 rs1561230513 RCV002318669	229	S>T	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001295516 rs1745529492	232	V>M	Early infantile epileptic encephalopathy with suppression bursts [ClinVar]	Yes	ClinVar dbSNP
RCV000535446 rs1554037381 CA359707309	234	Y>F	Early infantile epileptic encephalopathy with suppression bursts [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA359707267 RCV000636300 rs1554037379	240	E>D	Early infantile epileptic encephalopathy with suppression bursts [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000786048 VAR_082658 CA359707246 rs1561230486	243	M>R	Generalized epilepsy with febrile seizures plus, type 10 GEFSP10; significantly decreased current densities [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV001295634 rs1745528879	243	M>V	Early infantile epileptic encephalopathy with suppression bursts [ClinVar]	Yes	ClinVar dbSNP
rs1561230479 RCV002318360 RCV001362313 CA359707229	245	S>F	Early infantile epileptic encephalopathy with suppression bursts Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001565469 rs1745528455 RCV001301157	255	R>C	Early infantile epileptic encephalopathy with suppression bursts [ClinVar]	Yes	ClinVar dbSNP
VAR_082659	260	T>I	GEFSP10; unknown pathological significance [UniProt]	Yes	UniProt
rs1554037378 RCV000623856 VAR_082660 CA359707127	261	K>E	Inborn genetic diseases DEE24; unknown pathological significance [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
rs763339068 VAR_082661 CA359707106 RCV000815698	264	S>C	Early infantile epileptic encephalopathy with suppression bursts found in a patient with infantile-onset epilepsy; unknown pathological significance [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC dbSNP gnomAD
rs1745528201 RCV001206856	265	L>I	Early infantile epileptic encephalopathy with suppression bursts [ClinVar]	Yes	ClinVar dbSNP
VAR_071827 rs587777493 RCV000128460 CA163273 RCV000486307	272	S>P	Developmental and epileptic encephalopathy, 24 DEE24; dominant-negative mutation resulting in loss of channel currents [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV001302856 rs1745526984	277	Y>*	Early infantile epileptic encephalopathy with suppression bursts [ClinVar]	Yes	ClinVar dbSNP
VAR_071828 COSM3744896 RCV000128462 rs587777495 CA163275	279	H>Y	Developmental and epileptic encephalopathy, 24 liver Variant assessed as Somatic; impact. DEE24; results in a gain of channel function [ClinVar, Cosmic, NCI-TCGA, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt Ensembl NCI-TCGA dbSNP
rs1741171789 RCV001260717	284	I>T	Intellectual disability [ClinVar]	Yes	ClinVar dbSNP
rs587777494 RCV000128461 VAR_071829 CA163274	297	R>T	Developmental and epileptic encephalopathy, 24 Variant assessed as Somatic; impact. DEE24; dominant-negative mutation resulting in loss of channel currents [ClinVar, NCI-TCGA, UniProt]	Yes	ClinGen ClinVar UniProt NCI-TCGA dbSNP gnomAD
VAR_082663 CA16604906 rs1057521989 RCV000444585 RCV001637015	305	M>L	Developmental and epileptic encephalopathy, 24 DEE24; absence of hyperpolarization-activated currents; highly reduced amount of protein at the cell membrane [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV001312737 rs1741169756	312	D>V	Early infantile epileptic encephalopathy with suppression bursts [ClinVar]	Yes	ClinVar dbSNP
CA359704741 RCV000786051 rs1318391259 VAR_082664	329	C>S	Generalized epilepsy with febrile seizures plus, type 10 GEFSP10; decreased current density; voltage-dependence of activation as well as the activation and deactivation kinetics are not altered [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt TOPMed dbSNP
RCV000177323 CA243476 RCV001852189 rs794727517	330	W>C	Early infantile epileptic encephalopathy with suppression bursts [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
rs1051256215 RCV001340049 CA118303541	336	M>I	Early infantile epileptic encephalopathy with suppression bursts [ClinVar]	Yes	ClinVar dbSNP ClinGen TOPMed
rs1739693084 RCV001034511	365	A>V	Early infantile epileptic encephalopathy with suppression bursts [ClinVar]	Yes	ClinVar dbSNP
rs1561139596 CA359705336 RCV001465832	380	I>T	Early infantile epileptic encephalopathy with suppression bursts [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs750838439 RCV000696511 CA3259359	381	V>I	Early infantile epileptic encephalopathy with suppression bursts [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs1739692080 RCV001304221	383	A>T	Early infantile epileptic encephalopathy with suppression bursts [ClinVar]	Yes	ClinVar dbSNP
VAR_082666	391	G>C	GEFSP10; affects channel gating properties as the half-activation voltage is shifted to the hyperpolarizing direction [UniProt]	Yes	UniProt
CA16044317 RCV000416966 RCV000585842 VAR_078217 rs1057519547	391	G>D	Developmental and epileptic encephalopathy, 24 DEE24; results in absence of hyperpolarization-activated currents; reduced amount of protein at the cell membrane [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV001731925 RCV001382081 RCV002290034 VAR_082667 rs1561139569 RCV000786049 CA359705265	391	G>S	Early infantile epileptic encephalopathy with suppression bursts Developmental and epileptic encephalopathy, 24 Generalized epilepsy with febrile seizures plus, type 10 GEFSP10; affects channel gating properties as the half-activation voltage is shifted to the depolarizing direction; reduced amount of protein at the cell membrane [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
rs1739691445 RCV001058211	392	H>missing	Early infantile epileptic encephalopathy with suppression bursts [ClinVar]	Yes	ClinVar dbSNP
RCV001253020 RCV001052150 rs1739691061	395	A>T	Early infantile epileptic encephalopathy with suppression bursts Developmental and epileptic encephalopathy, 24 [ClinVar]	Yes	ClinVar dbSNP
RCV001033997 rs1739691000	396	L>I	Early infantile epileptic encephalopathy with suppression bursts [ClinVar]	Yes	ClinVar dbSNP
VAR_082668	397	I>L	DEE24; the half-activation voltage is shifted to the depolarizing direction; reduced amount of protein at the cell membrane [UniProt]	Yes	UniProt
VAR_082669	399	S>P	DEE24; results in absence of hyperpolarization-activated currents; reduced amount of protein at the cell membrane [UniProt]	Yes	UniProt
rs587777491 CA163271 RCV000128458 RCV001169921 VAR_071830	401	D>H	Developmental and epileptic encephalopathy, 24 DEE24; results in a gain of channel function [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV000786052 VAR_082670 CA359702278 rs1561120793	414	V>M	Generalized epilepsy with febrile seizures plus, type 10 GEFSP10; results in a depolarizing shift of the half-activation voltage and faster activation kinetics [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV001224484 rs1746946756	436	E>K	Early infantile epileptic encephalopathy with suppression bursts [ClinVar]	Yes	ClinVar dbSNP
rs1746946512 RCV001262644	441	G>D	Generalized epilepsy with febrile seizures plus, type 10 [ClinVar]	Yes	ClinVar dbSNP
rs1234068441 RCV000550634 CA359702041	446	E>K	Early infantile epileptic encephalopathy with suppression bursts [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs752944351 RCV000706719 CA3259314	448	N>S	Early infantile epileptic encephalopathy with suppression bursts [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA118291023 RCV001062285 rs945853543	451	N>D	Early infantile epileptic encephalopathy with suppression bursts [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
RCV001067059 rs1375816918 CA359701954	459	E>Q	Early infantile epileptic encephalopathy with suppression bursts [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
CA118283641 rs773990933 RCV001351975	467	R>P	Early infantile epileptic encephalopathy with suppression bursts Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV001057897 rs1745673600	482	N>missing	Early infantile epileptic encephalopathy with suppression bursts [ClinVar]	Yes	ClinVar dbSNP
RCV001352584 rs1745673386	489	S>N	Early infantile epileptic encephalopathy with suppression bursts [ClinVar]	Yes	ClinVar dbSNP
RCV002066109 rs35229491 CA118283633 COSM420688	504	R>*	Early infantile epileptic encephalopathy with suppression bursts Variant assessed as Somatic; 0.0 impact. central_nervous_system urinary_tract [ClinVar, NCI-TCGA, Cosmic]	Yes	ClinGen cosmic curated ClinVar NCI-TCGA dbSNP gnomAD
rs1685224516 RCV001200515 RCV001319120	507	A>T	Early infantile epileptic encephalopathy with suppression bursts [ClinVar]	Yes	ClinVar dbSNP
RCV000636328 CA3259274 RCV001815359 COSM265902 rs180790607	508	V>M	Early infantile epileptic encephalopathy with suppression bursts Variant assessed as Somatic; 0.0 impact. large_intestine urinary_tract [ClinVar, NCI-TCGA, Cosmic]	Yes	ClinGen cosmic curated ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV001253258 rs1745671912	521	G>V	Developmental and epileptic encephalopathy, 24 [ClinVar]	Yes	ClinVar dbSNP
RCV000688463 rs1561096281 CA359702427	524	T>A	Early infantile epileptic encephalopathy with suppression bursts [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
COSM161462 rs1554014649 RCV000538794 CA359705962	548	R>H	Early infantile epileptic encephalopathy with suppression bursts breast [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
RCV001207378 CA118278939 rs936848980	552	S>T	Early infantile epileptic encephalopathy with suppression bursts [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
CA118278938 RCV001237739 rs924134838	553	V>I	Early infantile epileptic encephalopathy with suppression bursts [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV001267391 rs1744875571	560	R>G	Inborn genetic diseases [ClinVar]	Yes	ClinVar dbSNP
CA118278937 rs766943052 RCV002318180 RCV002533056 COSM1165564	566	V>M	Early infantile epileptic encephalopathy with suppression bursts large_intestine Inborn genetic diseases [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar dbSNP gnomAD
CA359705694 RCV000714812 rs1561081327	585	T>S	Developmental and epileptic encephalopathy, 24 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
COSM3342998 rs1561081319 CA359705632 RCV000786050 VAR_082671	590	R>Q	Generalized epilepsy with febrile seizures plus, type 10 pancreas Variant assessed as Somatic; impact. GEFSP10; decreased current densities; half-activation voltage is slightly shifted to the hyperpolarizing direction [ClinVar, Cosmic, NCI-TCGA, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt Ensembl NCI-TCGA dbSNP
RCV001256055 RCV001063315 CA118278935 rs989268235	593	R>G	Early infantile epileptic encephalopathy with suppression bursts Intellectual disability Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar NCI-TCGA dbSNP gnomAD
rs769934821 COSM189264 CA3259235 RCV001339596 RCV002402939	593	R>Q	Early infantile epileptic encephalopathy with suppression bursts Variant assessed as Somatic; 0.0 impact. large_intestine skin Inborn genetic diseases [ClinVar, NCI-TCGA, Cosmic]	Yes	ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
TCGA novel rs1579766327 RCV000815432 CA359705596	594	I>V	Early infantile epileptic encephalopathy with suppression bursts Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar NCI-TCGA Ensembl dbSNP
rs754531784 CA359704563 RCV001234228 RCV000820070	619	N>K	Early infantile epileptic encephalopathy with suppression bursts [ClinVar]	Yes	ClinVar dbSNP ClinGen ExAC TOPMed gnomAD
CA359704471 rs1226802525 CA359704469 RCV000531814 COSM351232	632	M>I	Early infantile epileptic encephalopathy with suppression bursts lung [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar dbSNP gnomAD
RCV000704607 CA359704463 rs1561079474	634	Q>K	Early infantile epileptic encephalopathy with suppression bursts [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA359704380 RCV002316072 rs1175835174	646	T>S	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
rs776850213 RCV001329207	650	T>P	Developmental and epileptic encephalopathy, 24 [ClinVar]	Yes	ClinVar dbSNP
rs771934361 CA3259195 RCV000463713	651	S>W	Early infantile epileptic encephalopathy with suppression bursts [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1744773562 RCV001214972	654	T>A	Early infantile epileptic encephalopathy with suppression bursts [ClinVar]	Yes	ClinVar dbSNP
rs1744773302 RCV001203898	656	P>R	Early infantile epileptic encephalopathy with suppression bursts [ClinVar]	Yes	ClinVar dbSNP
rs1744773336 RCV001209038	656	P>T	Early infantile epileptic encephalopathy with suppression bursts [ClinVar]	Yes	ClinVar dbSNP
RCV001040647 CA3259188 rs748070273	657	T>A	Early infantile epileptic encephalopathy with suppression bursts [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000820149 RCV001766735 rs745561895 CA3259187	659	R>C	Early infantile epileptic encephalopathy with suppression bursts [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001547515 RCV000636396 CA359704300 rs1335934380	660	M>I	Early infantile epileptic encephalopathy with suppression bursts [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
CA16612072 rs142280884 RCV000472092	670	A>E	Early infantile epileptic encephalopathy with suppression bursts [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000591084 rs373454105 RCV001089002 CA3259184	670	A>T	Early infantile epileptic encephalopathy with suppression bursts [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs142280884 RCV001726485 CA3259183 RCV001316066	670	A>V	Early infantile epileptic encephalopathy with suppression bursts Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
VAR_082672	680	S>Y	GEFSP10; unknown pathological significance [UniProt]	Yes	UniProt
RCV001471101 CA359704173 rs1561079334	681	P>S	Early infantile epileptic encephalopathy with suppression bursts [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs745344977 CA3259170 RCV000636334	683	P>T	Early infantile epileptic encephalopathy with suppression bursts [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV000636315 rs748584173 CA3259167	687	T>N	Early infantile epileptic encephalopathy with suppression bursts [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs1561079301 CA359704104 RCV000702803	692	A>G	Early infantile epileptic encephalopathy with suppression bursts [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001221935 rs1222433760	694	L>V	Early infantile epileptic encephalopathy with suppression bursts [ClinVar]	Yes	ClinVar dbSNP
rs750463999 CA3259161 RCV000885324	695	S>A	Early infantile epileptic encephalopathy with suppression bursts [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs147007826 CA3259158 RCV000702758	702	A>V	Early infantile epileptic encephalopathy with suppression bursts [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs1293827335 RCV001245012 CA359704034	704	C>Y	Early infantile epileptic encephalopathy with suppression bursts [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
rs1744766400 RCV001052750	709	Q>missing	Early infantile epileptic encephalopathy with suppression bursts [ClinVar]	Yes	ClinVar dbSNP
CA359703967 rs1486444621 VAR_082673	715	R>G	GEFSP10; unknown pathological significance [UniProt]	Yes	ClinGen UniProt dbSNP gnomAD
rs1744765469 RCV001034510	720	A>D	Early infantile epileptic encephalopathy with suppression bursts [ClinVar]	Yes	ClinVar dbSNP
rs141383188 CA359703910 RCV001218961	724	A>S	Early infantile epileptic encephalopathy with suppression bursts Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
COSM1543895 CA3259153 rs141383188 RCV000867855	724	A>T	lung Early infantile epileptic encephalopathy with suppression bursts Variant assessed as Somatic; 0.0 impact. central_nervous_system [Cosmic, ClinVar, NCI-TCGA]	Yes	ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV001034103 rs1744764524	727	L>M	Early infantile epileptic encephalopathy with suppression bursts [ClinVar]	Yes	ClinVar dbSNP
RCV001233048 rs1744764294	730	M>T	Early infantile epileptic encephalopathy with suppression bursts [ClinVar]	Yes	ClinVar dbSNP
CA359703806 rs1418945597 RCV000807663 RCV002293483	739	Q>R	Early infantile epileptic encephalopathy with suppression bursts [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs560701504 CA3259145 RCV000558459 RCV002316538	743	P>A	Early infantile epileptic encephalopathy with suppression bursts Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
COSM1068488 RCV002542069 rs1252725512 RCV002537566 CA359703769	744	P>L	Early infantile epileptic encephalopathy with suppression bursts Variant assessed as Somatic; 0.0 impact. endometrium Inborn genetic diseases [ClinVar, NCI-TCGA, Cosmic]	Yes	ClinGen cosmic curated ClinVar NCI-TCGA dbSNP gnomAD
RCV001405500 RCV002314476 CA3259140 rs758226055	751	P>A	Early infantile epileptic encephalopathy with suppression bursts Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1744762137 RCV001260716	754	Q>*	Intellectual disability [ClinVar]	Yes	ClinVar dbSNP
RCV001492690 CA359703685 rs1579762677	757	T>I	Early infantile epileptic encephalopathy with suppression bursts [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA3259134 RCV000805676 rs760215449	768	H>D	Early infantile epileptic encephalopathy with suppression bursts [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV002316077 rs1561079128 CA359703616	768	H>P	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001326380 rs1561079128	768	H>R	Early infantile epileptic encephalopathy with suppression bursts [ClinVar]	Yes	ClinVar dbSNP
CA3259130 RCV001312418 rs149702217	774	L>P	Early infantile epileptic encephalopathy with suppression bursts [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP
CA3259124 RCV000799789 rs778039525	785	P>S	Early infantile epileptic encephalopathy with suppression bursts [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs150936707 CA3259119 RCV001662772 RCV000764610 RCV000699512	797	V>G	Developmental and epileptic encephalopathy, 24 Early infantile epileptic encephalopathy with suppression bursts [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs1461281527 RCV001071222 CA359703406	802	S>P	Early infantile epileptic encephalopathy with suppression bursts [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
CA359703372 RCV002274147 rs1244303801 RCV001209767 COSM360033 RCV002451452	807	T>S	lung Early infantile epileptic encephalopathy with suppression bursts Inborn genetic diseases [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar TOPMed dbSNP
rs1413473165 CA359703322 RCV000799798	816	P>R	Early infantile epileptic encephalopathy with suppression bursts [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
CA3259105 COSM1068486 rs371602396 RCV001219541	821	A>V	Early infantile epileptic encephalopathy with suppression bursts Variant assessed as Somatic; 0.0 impact. endometrium [ClinVar, NCI-TCGA, Cosmic]	Yes	ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV002427030 RCV000817889 CA3259100 rs780209007	831	G>S	Early infantile epileptic encephalopathy with suppression bursts Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV000519557 CA359703229 RCV000808238 rs199887416	832	R>K	Early infantile epileptic encephalopathy with suppression bursts Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar 1000Genomes NCI-TCGA dbSNP
CA118278349 RCV001257219 rs199887416	832	R>T	Early infantile epileptic encephalopathy with suppression bursts [ClinVar]	Yes	ClinGen ClinVar 1000Genomes dbSNP
rs368989823 RCV001449135 CA3259094	836	P>L	Early infantile epileptic encephalopathy with suppression bursts [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs201368368 CA3259085 RCV001034266	852	P>Q	Early infantile epileptic encephalopathy with suppression bursts [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs1060500094 CA16611996 RCV000467838	854	R>P	Early infantile epileptic encephalopathy with suppression bursts [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
rs755932633 RCV001041228	855	G>E	Early infantile epileptic encephalopathy with suppression bursts [ClinVar]	Yes	ClinVar dbSNP
RCV002312350 rs761866949 CA3259070 RCV001034308	879	P>T	Early infantile epileptic encephalopathy with suppression bursts Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA359706947 rs1271471544	3	G>E		No	ClinGen gnomAD
TCGA novel	3	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1156299203 CA359706921	7	P>R		No	ClinGen TOPMed gnomAD
rs1445930484 CA359706914	8	N>S		No	ClinGen gnomAD
CA359706905 rs1282790075	9	S>Y		No	ClinGen TOPMed
rs1453769463 CA359706899	10	S>L		No	ClinGen TOPMed
rs1194673599 CA359706878	13	S>R		No	ClinGen TOPMed
CA359706874 rs1252734883	14	R>Q		No	ClinGen TOPMed
TCGA novel	17	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA359706835 rs1237981237	19	S>R		No	ClinGen gnomAD
TCGA novel	21	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA359706824 rs1470715710	21	F>Y		No	ClinGen TOPMed gnomAD
rs1316303062 CA359706807	24	K>E		No	ClinGen gnomAD
CA359706796 rs1469192494	25	A>G		No	ClinGen TOPMed
TCGA novel	25	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1461851528 CA359706783	27	A>V		No	ClinGen TOPMed
CA359706771 rs1391977771	29	G>V		No	ClinGen TOPMed
TCGA novel	32	P>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3259513 rs773224896	32	P>R		No	ClinGen ExAC gnomAD
TCGA novel	34	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1344167758 CA359706738	35	A>V		No	ClinGen TOPMed gnomAD
rs1295976476 CA359706733	36	E>K		No	ClinGen TOPMed gnomAD
CA359706716 rs761449013	38	R>H		No	ClinGen ExAC TOPMed gnomAD
CA3259511 rs761449013	38	R>L		No	ClinGen ExAC TOPMed gnomAD
rs761449013 CA3259512	38	R>P		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	42	P>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1060500095 CA359706690	43	P>Q		No	ClinGen TOPMed gnomAD
rs1561248623	45	G>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs1031913850 CA359706675	46	G>C		No	ClinGen TOPMed gnomAD
CA118329979 rs1031913850	46	G>S		No	ClinGen TOPMed gnomAD
rs866992298 CA118329978	48	A>S		No	ClinGen Ensembl
CA359706662 rs1415475910	48	A>V		No	ClinGen TOPMed
CA359706659 rs1214766208	49	G>S		No	ClinGen gnomAD
rs1462816724 CA359706655	50	A>T		No	ClinGen gnomAD
CA359706631 rs1467006341	53	H>Y		No	ClinGen TOPMed
rs1245405853 CA359706624	54	G>C		No	ClinGen gnomAD
rs1391013594 CA359706623	54	G>D		No	ClinGen TOPMed
CA359706585 rs1298378220	59	F>L		No	ClinGen gnomAD
CA359706571 rs1275868182	62	D>N		No	ClinGen gnomAD
rs1554040136 RCV000585338 CA359706567	62	D>V		No	ClinGen ClinVar Ensembl dbSNP
CA359706563 rs1406370096	63	G>S		No	ClinGen gnomAD
rs1365874820 CA359706557	64	G>S		No	ClinGen gnomAD
CA359706545 rs1356150414	66	G>S		No	ClinGen gnomAD
CA118329972 rs941855168	67	G>A		No	ClinGen TOPMed
CA359706539 rs1427664939	67	G>S		No	ClinGen TOPMed gnomAD
rs1201375181 CA359706527	69	G>S		No	ClinGen gnomAD
CA359706519 rs1269949873	70	G>D		No	ClinGen gnomAD
TCGA novel	70	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA359706522 rs1255330911	70	G>S		No	ClinGen TOPMed
rs1487553404 CA359706514	71	G>D		No	ClinGen gnomAD
CA3259505 rs771362022	71	G>R		No	ClinGen ExAC gnomAD
CA359706515 rs771362022	71	G>S		No	ClinGen ExAC gnomAD
rs1205869080 CA359706508	72	G>D		No	ClinGen gnomAD
VAR_085692	72	G>del		No	UniProt
CA359706495 rs1282259414	74	G>V		No	ClinGen TOPMed gnomAD
rs1282259414 CA359706497	74	G>D		No	ClinGen TOPMed gnomAD
CA3259502 rs747284102	74	G>R		No	ClinGen ExAC gnomAD
rs1374925949 CA359706492	75	E>K		No	ClinGen gnomAD
COSM1311172 rs1348079874 CA359706473	77	P>L	biliary_tract Variant assessed as Somatic; impact. urinary_tract [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs1561248449 CA359706476	77	P>T		No	ClinGen Ensembl
CA359706471 rs376072704	78	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA3259494 rs376072704	78	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1178320320 CA359706468	78	A>V		No	ClinGen gnomAD
CA359706462 rs1430178931	79	G>V		No	ClinGen gnomAD
TCGA novel	80	G>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs754990881 CA3259491	80	G>S		No	ClinGen ExAC gnomAD
RCV000292789 CA10605354 rs886043302	81	F>Y		No	ClinGen ClinVar Ensembl dbSNP
rs1256720723 CA359706431	84	A>S		No	ClinGen gnomAD
CA359706418 rs1230569941	86	G>E		No	ClinGen TOPMed gnomAD
TCGA novel	86	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA359706413 rs1397144091	87	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA359706415 rs370113959	87	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1173138693 CA359706409	88	R>Q		No	ClinGen TOPMed
CA3259480 rs769305273	90	Q>K		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	91	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1413239994 CA359706386	92	G>C		No	ClinGen TOPMed gnomAD
CA3259477 rs772623522	94	M>K		No	ClinGen ExAC gnomAD
CA118329970 rs980130181	95	Q>H		No	ClinGen TOPMed
rs143865339 CA3259473 COSM3744897	99	T>I	liver [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC gnomAD
rs779325604 CA3259475	99	T>P		No	ClinGen ExAC
rs780364002 CA359706331	100	S>P		No	ClinGen ExAC TOPMed gnomAD
rs886042909 RCV000383662 CA10604848	102	L>Q		No	ClinGen ClinVar Ensembl dbSNP
rs1580054993 CA359706295	106	V>I		No	ClinGen Ensembl
rs1350895787 CA359706263	110	S>A		No	ClinGen gnomAD
rs1454909271 CA359706247	113	M>V		No	ClinGen TOPMed
TCGA novel	116	S>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA359706204 rs1580054978	118	K>R		No	ClinGen Ensembl
rs1383711113 CA359706197	119	A>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs764078270 CA3259465	125	E>K		No	ClinGen ExAC gnomAD
CA359706137 rs1445746755	127	V>A		No	ClinGen gnomAD
TCGA novel	128	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	136	H>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	136	H>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA359706071 rs1449113518	137	P>T		No	ClinGen gnomAD
rs1412112806 CA359707948	143	F>V		No	ClinGen gnomAD
CA359707898 rs1561230611	149	M>R		No	ClinGen Ensembl
CA359707890 rs1401736234	150	L>P		No	ClinGen gnomAD
rs1170404648 CA359707885	151	I>T		No	ClinGen gnomAD
rs1237420066 CA359707814	162	V>F		No	ClinGen gnomAD
CA359707805 RCV000998380 rs1554037393	163	G>E		No	ClinGen ClinVar Ensembl dbSNP
RCV000659014 rs1554037393 CA359707803	163	G>V		No	ClinGen ClinVar Ensembl dbSNP
CA118324614 rs1051987854	165	T>I		No	ClinGen gnomAD
rs1375271702 CA359707747	171	T>I		No	ClinGen gnomAD
rs1244449353 CA359707739	173	T>A		No	ClinGen TOPMed gnomAD
rs1244449353 CA359707740	173	T>P		No	ClinGen TOPMed gnomAD
CA359707720 rs1213411974	175	W>C		No	ClinGen TOPMed
rs1580015079 CA359707693	179	N>S		No	ClinGen Ensembl
TCGA novel	184	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	187	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3259429 rs374770620	200	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	202	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	203	S>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	204	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1177307612 CA359707486	209	D>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA3259428 rs777694712	211	K>E		No	ClinGen ExAC gnomAD
rs527655367 CA118324609	214	K>R		No	ClinGen 1000Genomes
rs1439791679 CA359707446 COSM1543876	215	M>I	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs975527828 CA118324608	215	M>V		No	ClinGen Ensembl
TCGA novel	216	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	217	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1176738324 CA359707423	218	L>*		No	ClinGen gnomAD
CA359707373 COSM345760 rs1358419731	225	D>Y	lung [Cosmic]	No	ClinGen cosmic curated TOPMed
rs1209237249 CA359707359	227	I>V		No	ClinGen gnomAD
TCGA novel	232	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	232	V>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs377021158 CA118324607	235	I>V		No	ClinGen ESP TOPMed gnomAD
TCGA novel	240	E>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1385693706 CA359707232	245	S>A		No	ClinGen gnomAD
rs1447763725 CA359707195	250	T>R		No	ClinGen gnomAD
rs764449940 CA3259419	252	R>W		No	ClinGen ExAC gnomAD
TCGA novel	262	I>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs763339068 CA3259418	264	S>G		No	ClinGen ExAC gnomAD
COSM1158485 rs951258297 CA118324606	267	R>H	pancreas Variant assessed as Somatic; 4.638e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs541911994 COSM3722007 CA3259415	270	R>*	upper_aerodigestive_tract Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs868261838 CA118324605	273	R>K		No	ClinGen Ensembl
VAR_082662	275	I>T	found in a patient with childhood focal epilepsy; unknown pathological significance [UniProt]	No	UniProt
CA359707027 rs1417499521	276	R>S		No	ClinGen TOPMed gnomAD
TCGA novel	280	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs771334137 CA3259413	281	W>*		No	ClinGen ExAC gnomAD
rs776842143 CA3259414	281	W>R		No	ClinGen ExAC gnomAD
CA359705109 rs1191518802	285	F>Y		No	ClinGen gnomAD
CA118303547 rs267600646	287	M>I		No	ClinGen Ensembl
rs1320495749 CA359705064	291	L>F		No	ClinGen gnomAD
rs760795887 CA3259394	296	V>G		No	ClinGen ExAC gnomAD
rs587777494 CA359705027	297	R>K		No	ClinGen gnomAD
rs1214072611 CA359704987	303	G>S		No	ClinGen gnomAD
TCGA novel	313	G>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	314	C>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs373350950 CA3259390	318	L>F		No	ClinGen ESP ExAC gnomAD
TCGA novel	320	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs149434809 CA3259387	321	L>P		No	ClinGen ESP ExAC
CA118303544 rs1000142153	327	P>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
TCGA novel	327	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1318391259 CA359704748	329	C>F		No	ClinGen TOPMed
COSM227488 CA118296219 rs867237478	339	D>N	Variant assessed as Somatic; impact. skin [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated Ensembl NCI-TCGA
TCGA novel	341	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3259370 rs775459159	342	G>V		No	ClinGen ExAC gnomAD
rs1009540904 CA118296218	344	Q>K		No	ClinGen Ensembl
CA118296217 rs754168983	344	Q>L		No	ClinGen Ensembl
CA359705609 rs1561139629	345	Y>D		No	ClinGen Ensembl
rs868143772 CA118296216	346	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
TCGA novel	346	S>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1333872397 COSM592804 CA359705570	348	A>T	lung Variant assessed as Somatic; impact. endometrium [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA359705481 rs1239313304	360	G>W		No	ClinGen gnomAD
rs1374655408 CA359705470	361	Y>F		No	ClinGen gnomAD
TCGA novel	364	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	364	Q>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA118296215 rs191789690 COSM1437705	376	M>I	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated 1000Genomes NCI-TCGA
TCGA novel	379	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
VAR_082665	379	M>R	found in a patient with intellectual disability and language delay; unknown pathological significance [UniProt]	No	UniProt
CA3259358 rs767640754	381	V>A		No	ClinGen ExAC gnomAD
TCGA novel	382	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1579867065 CA359705324	382	G>V		No	ClinGen Ensembl
TCGA novel	387	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA359705259 rs1254995286	392	H>Y		No	ClinGen gnomAD
CA359705250 rs1561139558	393	A>D		No	ClinGen Ensembl
rs13436341 CA118296213	394	T>P		No	ClinGen Ensembl
TCGA novel	396	L>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	400	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	403	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1286098000 CA359705184	404	R>G		No	ClinGen gnomAD
rs1351333514 COSM449714 CA359705174	405	R>Q	breast [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs375110542 CA3259350	405	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
rs746453898 CA3259348	407	Y>*		No	ClinGen ExAC gnomAD
CA3259322 rs368892345	418	M>L		No	ClinGen ESP ExAC gnomAD
CA359702235 rs1161759568	419	S>L		No	ClinGen gnomAD
TCGA novel	419	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs935933583 CA118291026	421	H>L		No	ClinGen TOPMed
rs140166527 CA3259320	422	K>T		No	ClinGen ESP ExAC gnomAD
CA3259319 rs781744218	423	L>*		No	ClinGen ExAC gnomAD
rs1334729712 CA359702201	424	P>L		No	ClinGen TOPMed
rs1199035368 CA359702206	424	P>T		No	ClinGen gnomAD
CA118291025 rs907851684	427	M>I		No	ClinGen Ensembl
rs1265198753 COSM240080 CA359702175	428	R>H	Variant assessed as Somatic; 0.0 impact. central_nervous_system prostate [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA3259317 rs747175226	432	H>R		No	ClinGen ExAC gnomAD
CA359702138 rs1257229224	433	D>G		No	ClinGen gnomAD
CA3259316 rs777839957	434	Y>H		No	ClinGen ExAC gnomAD
rs1337764830 CA359702090	439	Y>F		No	ClinGen gnomAD
rs375902844 CA359702081	440	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA118291024 rs867804269	445	D>A		No	ClinGen Ensembl
rs1449411437 CA359702017	449	I>F		No	ClinGen gnomAD
rs146123836 CA3259313 RCV001311650	450	L>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
CA118291022 rs868820215	451	N>S		No	ClinGen Ensembl
CA359701993 rs1201587793	453	L>I		No	ClinGen TOPMed
CA359701984 rs1426831704	454	N>T		No	ClinGen gnomAD
CA3259311 rs753544190	454	N>Y		No	ClinGen ExAC gnomAD
rs866047521 CA118291021	455	D>N		No	ClinGen Ensembl
TCGA novel	455	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs966376899 CA118283642	461	I>T		No	ClinGen Ensembl
rs1561096410 CA359702845	462	V>I		No	ClinGen Ensembl
TCGA novel	463	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA359702836 rs1218893074	463	N>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1354976296 CA359702823	465	N>D		No	ClinGen gnomAD
rs773990933 CA3259285	467	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1381751342 CA359702805	468	K>E		No	ClinGen gnomAD
TCGA novel	469	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1353247808 CA359702742	477	A>S		No	ClinGen gnomAD
rs762522770 CA3259283	479	A>V		No	ClinGen ExAC gnomAD
rs997453240 CA118283639	480	D>E		No	ClinGen Ensembl
CA118283640 rs771234977	480	D>H		No	ClinGen ExAC TOPMed gnomAD
CA359702725 rs771234977	480	D>N		No	ClinGen ExAC TOPMed gnomAD
CA3259281 COSM1311168 rs771234977	480	D>Y	Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA118283638 rs868777099	481	P>S		No	ClinGen Ensembl
COSM1068499 CA359702680 rs1407054365	487	M>V	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA359702661 rs1181127349	489	S>R		No	ClinGen gnomAD
CA118283635 COSM325476 rs920701498	492	R>K	lung [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
TCGA novel	501	Y>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs972121549 CA118283634	501	Y>F		No	ClinGen TOPMed
rs778847104 CA3259276	501	Y>H		No	ClinGen ExAC gnomAD
rs1485989336 CA359702567	503	I>V		No	ClinGen Ensembl
COSM1543883 CA359702535 rs180790607 CA359702536	508	V>L	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD NCI-TCGA
rs1332144615 CA359702531	509	G>S		No	ClinGen gnomAD
CA118283631 rs539896753	510	K>*		No	ClinGen 1000Genomes
rs780273858 CA3259273	510	K>N		No	ClinGen ExAC gnomAD
rs772669067	512	M>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA3259272 rs755909703	512	M>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	515	I>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA359702471 rs1330020304	517	H>D		No	ClinGen TOPMed
TCGA novel	518	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA359702452 rs1459697551	520	A>T		No	ClinGen gnomAD
CA118283629 rs992806251	524	T>I		No	ClinGen TOPMed gnomAD
CA359702414 rs1173056773	526	S>P		No	ClinGen gnomAD
rs751481175 CA3259267	528	K>N		No	ClinGen ExAC TOPMed gnomAD
rs763513109 CA3259266	531	K>R		No	ClinGen ExAC gnomAD
rs1489714019 CA359702368	532	L>V		No	ClinGen TOPMed gnomAD
rs752317912 CA3259264	535	G>V		No	ClinGen ExAC
rs1490887803 CA359702343	536	S>A		No	ClinGen TOPMed
rs1395732901 CA359706000	542	C>F		No	ClinGen gnomAD
TCGA novel	545	T>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA118278940 rs868454030	549	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA3259241 rs767873173	552	S>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA359705931 rs1445787418	554	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	559	C>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	564	L>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA359705850 rs1183544872	566	V>G		No	ClinGen TOPMed
rs1359790932 CA359705845	567	D>G		No	ClinGen gnomAD
TCGA novel	568	N>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA359705834 rs1173161974	568	N>K		No	ClinGen gnomAD
rs1415664571 CA359705829	569	F>S		No	ClinGen TOPMed
rs1433400858 CA359705821	570	N>S		No	ClinGen TOPMed gnomAD
rs1433400858 CA359705822	570	N>T		No	ClinGen TOPMed gnomAD
TCGA novel	577	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA359705758 rs1579766374	579	M>V		No	ClinGen Ensembl
rs1248907862 CA359705741	581	R>K		No	ClinGen TOPMed gnomAD
rs1248907862 CA359705740	581	R>T		No	ClinGen TOPMed gnomAD
TCGA novel	585	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs775623605 CA3259236	585	T>R		No	ClinGen ExAC gnomAD
rs1166669677 CA359705612 COSM738663	592	D>G	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA359704848 rs1197541186	595	G>E		No	ClinGen gnomAD
CA118278390 rs536949413	596	K>T		No	ClinGen Ensembl
rs765435039 CA3259216	598	N>S		No	ClinGen ExAC TOPMed gnomAD
rs765435039 CA359704802	598	N>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	599	S>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM2155254 CA359704792 rs1382153041	599	S>P	Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs990318984 CA118278389	601	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
TCGA novel	601	L>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1458754124 CA359704701	605	F>L		No	ClinGen gnomAD
CA3259214 rs771250280	607	K>E		No	ClinGen ExAC gnomAD
TCGA novel	608	D>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA359704668 rs1336099651	608	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
TCGA novel	609	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs746848620 CA3259213	612	G>D		No	ClinGen ExAC gnomAD
CA359704596 rs1478627115	615	N>D		No	ClinGen gnomAD
RCV001264686 rs200841444 TCGA novel CA118278388	615	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ClinVar TOPMed dbSNP gnomAD NCI-TCGA
rs773048866 CA3259212	615	N>S		No	ClinGen ExAC TOPMed gnomAD
rs771707286 CA3259211	616	N>S		No	ClinGen ExAC gnomAD
rs748122704 CA3259210	617	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA359704571 rs1221163641	618	E>D		No	ClinGen TOPMed
TCGA novel	618	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1283597786 CA359704576	618	E>Q		No	ClinGen TOPMed
CA359704568 rs1467840745	619	N>D		No	ClinGen gnomAD
rs778783214 CA3259209	619	N>T		No	ClinGen ExAC gnomAD
rs748765112 CA3259207	622	L>F		No	ClinGen ExAC gnomAD
CA3259206 rs779746846	624	Q>R		No	ClinGen ExAC gnomAD
rs934319953 CA118278387	628	H>Y		No	ClinGen Ensembl
rs555626997 CA118278386	630	R>S		No	ClinGen Ensembl
rs756115935 CA359704467	633	V>L		No	ClinGen TOPMed
rs756115935 CA118278385	633	V>M		No	ClinGen TOPMed
CA3259204 rs749983867	635	A>T		No	ClinGen ExAC gnomAD
CA359704438 rs1394179231	637	A>V		No	ClinGen gnomAD
CA3259203 rs764520573	639	I>M		No	ClinGen ExAC gnomAD
rs982964789 CA118278384	639	I>T		No	ClinGen TOPMed
rs1466860200 CA359704425	640	N>D		No	ClinGen gnomAD
CA359704422 rs1446280490	640	N>S		No	ClinGen TOPMed
rs1561079455 CA359704405	642	P>L		No	ClinGen Ensembl
rs765821482 CA3259200	644	M>T		No	ClinGen ExAC gnomAD
CA359704384 rs1479541880	645	T>I		No	ClinGen TOPMed
TCGA novel	648	N>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs759733460 CA3259199	649	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs776850213 CA3259198	650	T>A		No	ClinGen ExAC gnomAD
CA3259197 rs766768359	650	T>I		No	ClinGen ExAC TOPMed gnomAD
CA3259194 rs771934361	651	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs768576555 CA3259191	652	S>C		No	ClinGen ExAC TOPMed gnomAD
rs768576555 CA3259192	652	S>F		No	ClinGen ExAC TOPMed gnomAD
CA359704345 rs1195261110	653	T>S		No	ClinGen gnomAD
CA3259190 rs748853027	654	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1579763291 CA359704334	655	T>P		No	ClinGen Ensembl
CA359704318 rs1293402226	657	T>I		No	ClinGen gnomAD
CA359704322 rs748070273	657	T>P		No	ClinGen ExAC TOPMed gnomAD
CA359704307 COSM738670 rs1221257807	659	R>L	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA359704311 rs745561895	659	R>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs143224211 CA3259186	661	R>K		No	ClinGen ESP ExAC gnomAD
CA359704286 rs1317033746	662	T>I		No	ClinGen TOPMed
TCGA novel	663	Q>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	667	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1028285190 CA118278379	667	V>M		No	ClinGen Ensembl
rs1433945121 CA359704245	669	T>A		No	ClinGen gnomAD
rs1232128294 CA359704236	671	T>A		No	ClinGen gnomAD
CA359704232 rs1489927262	671	T>I		No	ClinGen TOPMed
rs1232128294 CA359704237	671	T>P		No	ClinGen gnomAD
rs766487587 CA3259180 COSM738672	672	S>R	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs750680736 CA3259178	673	L>R		No	ClinGen ExAC gnomAD
CA118278378 rs138171983	674	S>F		No	ClinGen ESP
CA3259176 rs761735262	676	S>R		No	ClinGen ExAC gnomAD
CA359704198 rs1242721204	677	N>D		No	ClinGen gnomAD
TCGA novel	677	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1199032164 CA359704196	677	N>S		No	ClinGen TOPMed
rs200794598 CA359704184	679	H>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs762879493 CA359704182 CA3259174	679	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA3259175 rs200794598	679	H>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1579763121 CA359704180	680	S>P		No	ClinGen Ensembl
rs1439561079 CA359704171	681	P>R		No	ClinGen gnomAD
CA359704166 rs769364301	682	S>N		No	ClinGen ExAC gnomAD
rs769364301 CA3259171	682	S>T		No	ClinGen ExAC gnomAD
rs1160351107 CA359704152	684	S>I		No	ClinGen gnomAD
CA359704157 rs1373506537	684	S>R		No	ClinGen gnomAD
CA359704145 rs1165891593	685	T>I		No	ClinGen TOPMed
CA3259169 rs780942201	685	T>P		No	ClinGen ExAC TOPMed gnomAD
CA359704135 rs1156665509	687	T>A		No	ClinGen gnomAD
rs748584173 CA3259168	687	T>I		No	ClinGen ExAC gnomAD
CA359704136 rs1156665509	687	T>P		No	ClinGen gnomAD
CA359704133 rs748584173	687	T>S		No	ClinGen ExAC gnomAD
CA3259166 rs779436110	688	P>S		No	ClinGen ExAC gnomAD
CA359704123 rs1293979204	689	Q>P		No	ClinGen gnomAD
CA359704122 rs1293979204	689	Q>R		No	ClinGen gnomAD
TCGA novel	689	Q>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs780377541 CA3259163	691	S>A		No	ClinGen ExAC gnomAD
rs1219412264 CA359704106	692	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs377359279 CA3259162	693	I>V		No	ClinGen ESP ExAC gnomAD
rs750463999 CA118278376	695	S>P		No	ClinGen ExAC TOPMed gnomAD
rs767837343 CA3259160	698	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1352995652 CA359704057	700	T>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1246561442 CA359704036	704	C>R		No	ClinGen TOPMed
CA118278375 rs887218056	705	S>G		No	ClinGen TOPMed
TCGA novel	706	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	706	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1406904527 CA359704010	708	V>I		No	ClinGen gnomAD
TCGA novel	709	Q>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1221455779 CA359703990	710	S>R		No	ClinGen TOPMed
TCGA novel	711	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3259157 rs372778760	711	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs775543627 CA3259155 COSM738675	714	A>S	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1188360272 CA359703968	714	A>V		No	ClinGen TOPMed gnomAD
rs1242068538 CA359703963	715	R>P	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
COSM325474 rs1242068538 CA359703964	715	R>Q	lung Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA359703952 rs1579762918	717	F>S		No	ClinGen Ensembl
CA118278372 rs778734363	721	S>C		No	ClinGen Ensembl
rs905412259 CA118278373	721	S>T		No	ClinGen TOPMed gnomAD
TCGA novel	723	T>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1579762890 CA359703916	723	T>P		No	ClinGen Ensembl
rs1383923470 CA359703905	725	S>T		No	ClinGen TOPMed
rs1039430806 CA118278370	726	Q>H		No	ClinGen TOPMed gnomAD
TCGA novel	726	Q>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1438575744 CA359703879	729	L>F		No	ClinGen gnomAD
rs1394920889 CA359703862	731	Q>R		No	ClinGen gnomAD
rs1325047367 CA359703856	732	Q>*		No	ClinGen gnomAD
CA118278369 rs371481425	733	Q>*		No	ClinGen Ensembl
CA3259150 rs772962018	734	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1461055722 CA359703841	734	P>S		No	ClinGen gnomAD
CA3259149 rs769165114	735	Q>R		No	ClinGen ExAC gnomAD
CA359703810 rs1579762790	738	V>G		No	ClinGen Ensembl
CA359703815 rs1372043768	738	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA359703804 rs1418945597	739	Q>P		No	ClinGen gnomAD
rs1452689448 CA359703800	740	Q>E		No	ClinGen TOPMed
CA359703788 rs1317154905	741	S>Y		No	ClinGen TOPMed
CA359703772 rs1466817263	744	P>S		No	ClinGen gnomAD
CA359703774 rs1466817263	744	P>T		No	ClinGen gnomAD
CA359703755 rs1306386314	746	T>I		No	ClinGen TOPMed gnomAD
rs751800894 CA3259142	748	P>T		No	ClinGen ExAC TOPMed gnomAD
CA3259141 rs764274304	750	Q>E		No	ClinGen ExAC gnomAD
rs1052640717 CA118278367	751	P>L		No	ClinGen gnomAD
rs1579762727 CA359703722	752	S>P		No	ClinGen Ensembl
CA118278366 rs934392482 RCV001311648	752	S>Y		No	ClinGen ClinVar Ensembl dbSNP
rs367708007 COSM330488 CA118278365	753	P>L	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
TCGA novel	754	Q>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA359703689 rs1462729387	757	T>A		No	ClinGen TOPMed gnomAD
CA359703682 rs1353996566	758	P>S		No	ClinGen gnomAD
CA3259138 rs544168876	762	T>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
rs1437053801 CA359703649	763	P>Q		No	ClinGen gnomAD
CA3259136 rs776567935	766	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	768	H>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3259133 rs773048153	769	K>R		No	ClinGen ExAC gnomAD
CA3259132 rs369380065	770	S>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA118278360 COSM320770 rs975750493	772	Q>*	lung [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA118278361 rs975750493	772	Q>E		No	ClinGen TOPMed gnomAD
TCGA novel	772	Q>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	773	A>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1232040161 CA359703580	773	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	775	H>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA359703557 rs1307516754	777	T>A		No	ClinGen gnomAD
CA3259127 rs781686163	781	R>G		No	ClinGen ExAC gnomAD
CA118278358 rs767523812	783	V>L		No	ClinGen Ensembl
rs752908921 CA3259122	791	P>S		No	ClinGen ExAC gnomAD
rs140758934 CA3259121	792	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	796	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA359703442 rs1212588181	796	E>Q		No	ClinGen TOPMed
TCGA novel	797	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA359703427 rs1324470245	798	S>Y		No	ClinGen TOPMed
rs766397326 CA3259118	799	T>I		No	ClinGen ExAC gnomAD
TCGA novel	804	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	804	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1035068089 CA118278355	807	T>A		No	ClinGen TOPMed gnomAD
rs761374276 CA3259114	808	V>A		No	ClinGen ExAC gnomAD
rs767078014 CA3259115	808	V>L		No	ClinGen ExAC TOPMed gnomAD
CA118278354 rs767078014	808	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1422487971 CA359703365	809	G>R		No	ClinGen TOPMed
rs727503956 CA359703360	810	E>K		No	ClinGen gnomAD
rs727503956 CA234108 RCV000153348	810	E>Q		No	ClinGen ClinVar dbSNP gnomAD
rs967232218 CA359703349	811	S>F		No	ClinGen TOPMed gnomAD
rs967232218 CA118278353	811	S>Y		No	ClinGen TOPMed gnomAD
rs777158203 COSM1437701 CA3259110	813	A>D	large_intestine Variant assessed as Somatic; 4.683e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA359703342 rs759920350	813	A>S		No	ClinGen ExAC gnomAD
rs759920350 CA3259111	813	A>T		No	ClinGen ExAC gnomAD
RCV001091908 rs777158203 CA359703340	813	A>V		No	ClinGen ClinVar ExAC dbSNP gnomAD
CA118278352 rs1003463768	815	I>T		No	ClinGen Ensembl
CA118278351 rs998527315	817	Q>P		No	ClinGen TOPMed gnomAD
rs777848314 CA3259107	819	V>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1197215604 COSM3410293 CA359703308	819	V>M	central_nervous_system [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs1362460579 CA359703299	820	T>R		No	ClinGen gnomAD
CA359703289 rs1579762392	822	V>G		No	ClinGen Ensembl
rs1224402504 CA359703282	823	P>R		No	ClinGen TOPMed
CA359703271 rs1185166415	825	T>K		No	ClinGen gnomAD
rs1262369935 CA359703266	826	G>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1204287489 CA359703265	826	G>D		No	ClinGen gnomAD
rs1484753978 CA359703242	830	G>R		No	ClinGen gnomAD
CA3259099 rs756131996	831	G>D		No	ClinGen ExAC gnomAD
CA359703234 rs756131996	831	G>V		No	ClinGen ExAC gnomAD
TCGA novel	832	R>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs267600644 COSM738682 CA359703227	832	R>S	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA3259097 rs767166082	833	S>R		No	ClinGen ExAC gnomAD
rs751215219 CA3259095	835	V>D		No	ClinGen ExAC gnomAD
CA3259093 COSM2157580 rs759882440	838	R>C	central_nervous_system [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1328423751 COSM364660 CA359703188	839	V>F	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
CA359703190 rs1328423751	839	V>I		No	ClinGen gnomAD
rs1579762301 CA359703182	840	T>P		No	ClinGen Ensembl
rs1393295376 CA359703176	841	L>F		No	ClinGen gnomAD
rs776970041 CA3259092	841	L>P		No	ClinGen ExAC gnomAD
CA118278348 rs888196323	842	F>V		No	ClinGen TOPMed gnomAD
rs1046832984 CA118278347	843	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA359703165 rs1373191177	843	R>Q		No	ClinGen gnomAD
rs1201193034 CA359703159	844	Q>P		No	ClinGen TOPMed
CA3259091 rs771230431	845	M>T		No	ClinGen ExAC gnomAD
CA359703141 rs1477444033	846	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA3259090 rs572698864	847	S>L		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	847	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA359703127 rs1561078885	849	A>S		No	ClinGen Ensembl
VAR_085693	851	P>A	found in a patient with sinus bradychardia; unknown pathological significance; affects channel properties as it results in a negative shift in the threshold voltage of activation and slower activation kinetics compared to the wild-type [UniProt]	No	UniProt
rs1194036783 CA359703116	851	P>S		No	ClinGen gnomAD
CA359703109 rs1272817813	852	P>A		No	ClinGen gnomAD
CA3259087 rs201368368	852	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3259086 rs201368368	852	P>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA359703101 rs140186173 CA3259084	853	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA118278346 rs534013981 COSM2157080	854	R>*	Variant assessed as Somatic; impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1060500094 COSM3736668 CA359703098	854	R>Q	Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs755932633 CA3259082	855	G>V		No	ClinGen ExAC gnomAD
rs745821900 CA3259081	856	V>I		No	ClinGen ExAC gnomAD
rs1321143940 CA359703082	857	P>L		No	ClinGen gnomAD
CA359703078 rs1411355374	858	P>Q		No	ClinGen gnomAD
rs1166883194 CA359703064	860	P>L		No	ClinGen gnomAD
CA359703067 rs1396579079	860	P>S		No	ClinGen TOPMed gnomAD
CA359703069 rs1396579079	860	P>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA359703063 rs756753787	861	P>A		No	ClinGen ExAC TOPMed gnomAD
CA359703062 rs756753787	861	P>S		No	ClinGen ExAC TOPMed gnomAD
COSM317446 CA3259079 rs756753787	861	P>T	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA3259078 rs751073592	862	P>L		No	ClinGen ExAC gnomAD
rs751073592 CA359703055	862	P>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
TCGA novel	863	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	863	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs377177102 CA3259075	864	A>T		No	ClinGen ESP ExAC gnomAD
TCGA novel	866	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	866	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1207082922 CA359703018	869	R>G		No	ClinGen gnomAD
rs372807250 CA3259074	869	R>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA3259073 rs199774910	872	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1251251598 CA359702992	873	S>P		No	ClinGen gnomAD
rs1340599360 CA359702986	874	V>L		No	ClinGen gnomAD
CA118278344 rs948318133	875	L>F		No	ClinGen TOPMed
COSM482855 rs773757463 CA3259072	878	D>E	kidney [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA3259069 rs774478577	879	P>L		No	ClinGen ExAC gnomAD
rs761866949 CA3259071	879	P>S		No	ClinGen ExAC TOPMed gnomAD
rs56377228 CA3259067 COSM3342939	881	A>T	Variant assessed as Somatic; 0.0 impact. pancreas [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
TCGA novel	884	P>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	884	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA359702915 rs1335989876	885	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA3259066 rs775806199	885	R>L		No	ClinGen ExAC gnomAD
rs775806199 CA118278343	885	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs200667279 CA118278342	886	F>V		No	ClinGen 1000Genomes
rs757124569 CA3259065	887	A>T		No	ClinGen ExAC TOPMed gnomAD
CA359702904 rs1283434459	887	A>V		No	ClinGen gnomAD
TCGA novel	890	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	891	L>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA

2 associated diseases with O60741

[MIM: 615871]: Developmental and epileptic encephalopathy 24 (DEE24)

A disease characterized by early-onset seizures, intellectual disability of varying degrees, and behavioral disturbances or autistic features in most individuals. . Note=The disease is caused by variants affecting the gene represented in this entry.

[MIM: 618482]: Generalized epilepsy with febrile seizures plus 10 (GEFSP10)

An autosomal dominant neurologic disorder with incomplete penetrance, characterized by variable types of seizures including absence, tonic-clonic, febrile, focal, and eyelid myoclonia. Some patients have normal neurologic development. Others have mild-to-moderate intellectual disability or autism spectrum disorder. . Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

A disease characterized by early-onset seizures, intellectual disability of varying degrees, and behavioral disturbances or autistic features in most individuals. . Note=The disease is caused by variants affecting the gene represented in this entry.
An autosomal dominant neurologic disorder with incomplete penetrance, characterized by variable types of seizures including absence, tonic-clonic, febrile, focal, and eyelid myoclonia. Some patients have normal neurologic development. Others have mild-to-moderate intellectual disability or autism spectrum disorder. . Note=The disease is caused by variants affecting the gene represented in this entry.

4 regional properties for O60741

Type	Name	Position	InterPro Accession
domain	Cyclic nucleotide-binding domain	475 - 591	IPR000595
domain	Ion transport domain	143 - 403	IPR005821
domain	Ion transport N-terminal	98 - 141	IPR013621
conserved_site	Cyclic nucleotide-binding, conserved site	502 - 518	IPR018488

Functions

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

7 GO annotations of cellular component

Name	Definition
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.
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.
glutamatergic synapse	A synapse that uses glutamate as a neurotransmitter.
HCN channel complex	A cation ion channel with a preference for K+ over Na+ ions, which is activated by membrane hyperpolarization, and consists of a tetramer of HCN family members. Some members of this family (HCN1, HCN2 and HCN4) are also activated when cAMP binds to their cyclic nucleotide binding domain (CNBD). Channel complexes of this family play an important role in the control of pacemaker activity in the heart.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
postsynaptic membrane	A specialized area of membrane facing the presynaptic membrane on the tip of the nerve ending and separated from it by a minute cleft (the synaptic cleft). Neurotransmitters cross the synaptic cleft and transmit the signal to the postsynaptic membrane.
presynaptic active zone membrane	The membrane portion of the presynaptic active zone; it is the site where docking and fusion of synaptic vesicles occurs for the release of neurotransmitters.

8 GO annotations of molecular function

Name	Definition
cAMP binding	Binding to cAMP, the nucleotide cyclic AMP (adenosine 3',5'-cyclophosphate).
identical protein binding	Binding to an identical protein or proteins.
intracellular cAMP-activated cation channel activity involved in regulation of presynaptic membrane potential	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, to regulate the presynaptic membrane potential.
intracellularly 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.
potassium channel activity	Enables the facilitated diffusion of a potassium ion (by an energy-independent process) involving passage through a transmembrane aqueous pore or channel without evidence for a carrier-mediated mechanism.
voltage-gated monoatomic cation channel activity	Enables the transmembrane transfer of a cation by a voltage-gated channel. A cation is a positively charged ion. A voltage-gated channel is a channel whose open state is dependent on the voltage across the membrane in which it is embedded.
voltage-gated potassium channel activity	Enables the transmembrane transfer of a potassium ion by a voltage-gated channel. A voltage-gated channel is a channel whose open state is dependent on the voltage across the membrane in which it is embedded.
voltage-gated sodium channel activity	Enables the transmembrane transfer of a sodium ion by a voltage-gated channel. A voltage-gated channel is a channel whose open state is dependent on the voltage across the membrane in which it is embedded.

10 GO annotations of biological process

Name	Definition
apical protein localization	Any process in which a protein is transported to, or maintained in, apical regions of the cell.
cellular response to cAMP	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 cAMP (cyclic AMP, adenosine 3',5'-cyclophosphate) stimulus.
general adaptation syndrome, behavioral process	The set of behavioral processes that occur as part of the general adaptation syndrome, the response of the body to a strong, stressful stimulus.
neuronal action potential	An action potential that occurs in a neuron.
potassium ion transmembrane transport	A process in which a potassium ion is transported from one side of a membrane to the other.
protein homotetramerization	The formation of a protein homotetramer, a macromolecular structure consisting of four noncovalently associated identical subunits.
regulation of membrane depolarization	Any process that modulates the rate, frequency or extent of membrane depolarization. Membrane depolarization is the process in which membrane potential changes in the depolarizing direction from the resting potential, usually from negative to positive.
regulation of membrane potential	Any process that modulates the establishment or extent of a membrane potential, the electric potential existing across any membrane arising from charges in the membrane itself and from the charges present in the media on either side of the membrane.
retinal cone cell development	Development of a cone cell, one of the sensory cells in the eye that reacts to the presence of light. Cone cells contain the photopigment iodopsin or cyanopsin and are responsible for photopic (daylight) vision.
sodium ion transmembrane transport	A process in which a sodium ion is transported from one side of a membrane to the other by means of some agent such as a transporter or pore.

18 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q9P1Z3	HCN3	Potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 3	Homo sapiens (Human)	SS
Q9UL51	HCN2	Potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 2	Homo sapiens (Human)	SS
Q9Y3Q4	HCN4	Potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 4	Homo sapiens (Human)	EV
O88705	Hcn3	Potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 3	Mus musculus (Mouse)	SS
O70507	Hcn4	Potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 4	Mus musculus (Mouse)	SS
O88703	Hcn2	Potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 2	Mus musculus (Mouse)	EV
O88704	Hcn1	Potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 1	Mus musculus (Mouse)	SS
Q9JKA9	Hcn2	Potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 2	Rattus norvegicus (Rat)	SS
Q9JKA7	Hcn4	Potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 4	Rattus norvegicus (Rat)	SS
Q9JKA8	Hcn3	Potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 3	Rattus norvegicus (Rat)	SS
Q9JKB0	Hcn1	Potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 1	Rattus norvegicus (Rat)	SS
Q6K3T2	Os02g0245800	Potassium channel KAT1	Oryza sativa subsp japonica (Rice)	PR
A2ZX97	Os01g0718700	Potassium channel KAT6	Oryza sativa subsp japonica (Rice)	PR
Q9SKD7	CNGC3	Probable cyclic nucleotide-gated ion channel 3	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9LDR2	CNGC19	Putative cyclic nucleotide-gated ion channel 19	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9SU64	CNGC16	Probable cyclic nucleotide-gated ion channel 16	Arabidopsis thaliana (Mouse-ear cress)	PR
P92960	ATHB-4	Potassium channel KAT3	Arabidopsis thaliana (Mouse-ear cress)	PR
Q39128	KAT1	Potassium channel KAT1	Arabidopsis thaliana (Mouse-ear cress)	PR

10	20	30	40	50	60
MEGGGKPNSS	SNSRDDGNSV	FPAKASATGA	GPAAAEKRLG	TPPGGGGAGA	KEHGNSVCFK
70	80	90	100	110	120
VDGGGGGGGG	GGGGEEPAGG	FEDAEGPRRQ	YGFMQRQFTS	MLQPGVNKFS	LRMFGSQKAV
130	140	150	160	170	180
EKEQERVKTA	GFWIIHPYSD	FRFYWDLIML	IMMVGNLVII	PVGITFFTEQ	TTTPWIIFNV
190	200	210	220	230	240
ASDTVFLLDL	IMNFRTGTVN	EDSSEIILDP	KVIKMNYLKS	WFVVDFISSI	PVDYIFLIVE
250	260	270	280	290	300
KGMDSEVYKT	ARALRIVRFT	KILSLLRLLR	LSRLIRYIHQ	WEEIFHMTYD	LASAVVRIFN
310	320	330	340	350	360
LIGMMLLLCH	WDGCLQFLVP	LLQDFPPDCW	VSLNEMVNDS	WGKQYSYALF	KAMSHMLCIG
370	380	390	400	410	420
YGAQAPVSMS	DLWITMLSMI	VGATCYAMFV	GHATALIQSL	DSSRRQYQEK	YKQVEQYMSF
430	440	450	460	470	480
HKLPADMRQK	IHDYYEHRYQ	GKIFDEENIL	NELNDPLREE	IVNFNCRKLV	ATMPLFANAD
490	500	510	520	530	540
PNFVTAMLSK	LRFEVFQPGD	YIIREGAVGK	KMYFIQHGVA	GVITKSSKEM	KLTDGSYFGE
550	560	570	580	590	600
ICLLTKGRRT	ASVRADTYCR	LYSLSVDNFN	EVLEEYPMMR	RAFETVAIDR	LDRIGKKNSI
610	620	630	640	650	660
LLQKFQKDLN	TGVFNNQENE	ILKQIVKHDR	EMVQAIAPIN	YPQMTTLNST	SSTTTPTSRM
670	680	690	700	710	720
RTQSPPVYTA	TSLSHSNLHS	PSPSTQTPQP	SAILSPCSYT	TAVCSPPVQS	PLAARTFHYA
730	740	750	760	770	780
SPTASQLSLM	QQQPQQQVQQ	SQPPQTQPQQ	PSPQPQTPGS	STPKNEVHKS	TQALHNTNLT
790	800	810	820	830	840
REVRPLSASQ	PSLPHEVSTL	ISRPHPTVGE	SLASIPQPVT	AVPGTGLQAG	GRSTVPQRVT
850	860	870	880
LFRQMSSGAI	PPNRGVPPAP	PPPAAALPRE	SSSVLNTDPD	AEKPRFASNL