AiPD: Autoinhibited Protein Database

Q9Y210

Gene name	TRPC6
Protein name	Short transient receptor potential channel 6
Names	TrpC6, Transient receptor protein 6, TRP-6
Species	Homo sapiens (Human)
KEGG Pathway	hsa:7225
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-122 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-122 (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

7 structures for Q9Y210

Entry ID	Method	Resolution	Chain	Position	Source
5YX9	EM	380 A	A/B/C/D	1-931	PDB
6UZ8	EM	284 A	A/B/C/D	85-931	PDB
6UZA	EM	308 A	A/B/C/D	85-931	PDB
7A6U	EM	362 A	A/B/C/D	1-931	PDB
7DXF	EM	290 A	A/B/C/D	1-931	PDB
7DXG	EM	290 A	A/B/C/D	1-931	PDB
AF-Q9Y210-F1	Predicted				AlphaFoldDB

729 variants for Q9Y210

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs886039885 RCV000256381 RCV001859497 CA10588931	2	S>T	Focal segmental glomerulosclerosis 2 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV000249687 CA6244645 rs3802829 RCV001518346 RCV000576529 VAR_079784	15	P>S	Focal segmental glomerulosclerosis 2 [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV002546791 RCV001336715 rs758531773 CA382444058	34	M>T	Focal segmental glomerulosclerosis 2 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000331759 CA6244578 RCV000888915 RCV001288534 COSM922162 rs117273916	58	R>W	Focal segmental glomerulosclerosis 2 endometrium [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001029914 CA6244564 rs371919016	73	R>H	Focal segmental glomerulosclerosis 2 Variant assessed as Somatic; 0.0002865 impact. [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV001253487 CA6244565 rs371919016	73	R>L	Focal segmental glomerulosclerosis 2 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
VAR_079785	88	F>FAYMF	FSGS2; unknown pathological significance [UniProt]	Yes	UniProt
rs200186406 CA6244555 RCV001351869 RCV002486457	91	R>C	Focal segmental glomerulosclerosis 2 Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV001108456 rs770014593	91	R>L	Focal segmental glomerulosclerosis 2 [ClinVar]	Yes	ClinVar dbSNP
RCV001262964 CA227535756 RCV002541601 rs200369786	98	E>V	Focal segmental glomerulosclerosis 2 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV000256402 CA6244544 rs201363468	102	F>I	Focal segmental glomerulosclerosis 2 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
VAR_079786	109	G>S	FSGS2; increases calcium ion transport [UniProt]	Yes	UniProt
CA117977 VAR_026730 RCV000006526 rs121434390	112	P>Q	Focal segmental glomerulosclerosis 2 Focal segmental glomerulosclerosis 2 (fsgs2) FSGS2; increases calcium ion transport [ClinVar, Ensembl, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV001029904 CA6244535 RCV001862427 rs774329493	122	H>Y	Focal segmental glomerulosclerosis 2 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
VAR_067247 rs146776939 RCV001339965 CA6244533 RCV001108455	125	N>S	Focal segmental glomerulosclerosis 2 FSGS2; unknown pathological significance; decreases calcium ion transport [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD
VAR_026731 rs121434391 RCV000006527 CA117978 RCV000782220	143	N>S	Focal segmental glomerulosclerosis 2 Focal segmental glomerulosclerosis 2 (fsgs2) FSGS2; increases cation channel activity; does not change the outward peak current; increases significantly the inward peak current amplitude; increases calcium ion transport [ClinVar, Ensembl, UniProt]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV002283506 CA382450464 RCV000681865 rs1565221486	145	H>R	Focal segmental glomerulosclerosis 2 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA382450186 RCV000625638 rs1555003819	173	Y>C	Focal segmental glomerulosclerosis 2 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
COSM199695 RCV001029759 rs1451194842 CA382450169 VAR_079787 RCV001247810	175	R>Q	Focal segmental glomerulosclerosis 2 large_intestine Variant assessed as Somatic; impact. FSGS2; increases cation channel activity; does not change plasma membrane expression; increases calcium ion transport [ClinVar, Cosmic, NCI-TCGA, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt NCI-TCGA TOPMed dbSNP
RCV000208455 RCV001336716 rs869025541 COSM922160 RCV000713890 CA352054	175	R>W	Focal segmental glomerulosclerosis 2 Focal segmental glomerulosclerosis 2 (fsgs2) Variant assessed as Somatic; impact. endometrium Nephrotic syndrome [ClinVar, Ensembl, NCI-TCGA, Cosmic]	Yes	ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP
CA382449744 rs768210838 RCV000786957	215	R>G	Focal segmental glomerulosclerosis 2 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1860201767 RCV001328109 RCV001391126	215	R>Q	Focal segmental glomerulosclerosis 2 Nephrotic syndrome [ClinVar]	Yes	ClinVar dbSNP
rs779430565 CA6244483 VAR_067248	218	H>L	FSGS2; increases calcium ion transport [UniProt]	Yes	ClinGen UniProt ExAC TOPMed dbSNP gnomAD
CA6244481 RCV000625645 rs201368333	225	L>V	Focal segmental glomerulosclerosis 2 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000735698 CA382449189 rs1565221149	257	D>N	Focal segmental glomerulosclerosis 2 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000006528 VAR_026732 CA117979 rs121434392	270	S>T	Focal segmental glomerulosclerosis 2 Focal segmental glomerulosclerosis 2 (fsgs2) FSGS2 [ClinVar, Ensembl, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV000362864 rs775521973 CA6244416	353	L>F	Focal segmental glomerulosclerosis 2 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA6244410 RCV002507352 VAR_079788 rs777715086 RCV000782242	360	R>H	Focal segmental glomerulosclerosis 2 FSGS2; unknown pathological significance [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
VAR_079789	395	L>A	FSGS2; unknown pathological significance; requires 2 nucleotide substitutions; decreases calcium ion transport [UniProt]	Yes	UniProt
RCV000305928 VAR_061861 CA6244377 RCV000244238 RCV002294134 RCV000576299 rs36111323	404	A>V	Focal segmental glomerulosclerosis 2 increases calcium ion transport [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1859421755 RCV001329300	505	M>V	Focal segmental glomerulosclerosis 2 [ClinVar]	Yes	ClinVar dbSNP
CA6244295 RCV001106231 rs753943966 RCV002555042	538	A>T	Focal segmental glomerulosclerosis 2 Variant assessed as Somatic; 0.0 impact. Inborn genetic diseases [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
CA382440551 RCV000786981 rs200107149	583	R>G	Focal segmental glomerulosclerosis 2 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs758348046 RCV000337352 CA6244249	594	I>V	Focal segmental glomerulosclerosis 2 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV000779040 rs780501413	629	R>missing	Focal segmental glomerulosclerosis 2 [ClinVar]	Yes	ClinVar dbSNP
RCV000396617 CA6244242 rs775034304	629	R>T	Focal segmental glomerulosclerosis 2 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV000350856 CA6244237 rs773581652	643	M>T	Focal segmental glomerulosclerosis 2 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
VAR_079790	757	G>D	FSGS2; decreases calcium ion transport; does not change localization at cell membrane; does not affect homodimer formation [UniProt]	Yes	UniProt
RCV002499678 CA6244159 RCV001341875 RCV002546943 rs201466403	766	L>V	Focal segmental glomerulosclerosis 2 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs200772226 CA6244157 RCV001103187 RCV002555006	767	V>M	Focal segmental glomerulosclerosis 2 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
VAR_079791 rs771594597 CA6244147	780	L>P	FSGS2; unknown pathological significance; decreases calcium ion transport [UniProt]	Yes	ClinGen UniProt ExAC dbSNP gnomAD
rs201522744 RCV002556061 CA6244139 RCV001103185	798	D>H	Focal segmental glomerulosclerosis 2 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001329939 rs1858853619	829	V>D	Focal segmental glomerulosclerosis 2 [ClinVar]	Yes	ClinVar dbSNP
RCV000006529 CA117980 rs121434393	874	K>*	Focal segmental glomerulosclerosis 2 Focal segmental glomerulosclerosis 2 (fsgs2) [ClinVar, Ensembl]	Yes	ClinGen ClinVar Ensembl dbSNP
VAR_079792	874	K>del	FSGS2 [UniProt]	Yes	UniProt
rs1858816107 RCV001281329	881	E>*	Focal segmental glomerulosclerosis 2 [ClinVar]	Yes	ClinVar dbSNP
rs1858816064 RCV001281330	882	G>missing	Focal segmental glomerulosclerosis 2 [ClinVar]	Yes	ClinVar dbSNP
CA382487008 rs1591517921 RCV001029872 RCV000993356 COSM3397349	893	S>I	Focal segmental glomerulosclerosis 2 central_nervous_system [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
CA117982 rs121434394 RCV000681872 RCV000006530 VAR_026733 RCV001328174	895	R>C	Focal segmental glomerulosclerosis 2 Focal segmental glomerulosclerosis 2 (fsgs2) Nephrotic syndrome FSGS2; increases cation channel activity; does not change plasma membrane expression; significantly reduces the ratio of cell-surface to total expression; increases calcium ion transport [ClinVar, Ensembl, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
VAR_067249	895	R>L	FSGS2; decreases calcium ion transport [UniProt]	Yes	UniProt
rs121434395 CA117983 VAR_026734 RCV000681807 RCV000006531	897	E>K	Focal segmental glomerulosclerosis 2 Focal segmental glomerulosclerosis 2 (fsgs2) FSGS2; increases calcium ion transport [ClinVar, Ensembl, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
VAR_079793	897	E>del	FSGS2 [UniProt]	Yes	UniProt
CA6244032 RCV002568691 rs148529934 RCV001248773	904	Q>R	Focal segmental glomerulosclerosis 2 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA6244017 COSM165174 RCV000264354 RCV002056164 rs139330011	924	P>S	Focal segmental glomerulosclerosis 2 breast [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001296400 rs200791997	1	M>L		No	ClinVar dbSNP
RCV001067397 rs1862252357	2	S>R		No	ClinVar dbSNP
CA382444365 rs1194650989	3	Q>*		No	ClinGen gnomAD
rs1430418655 CA382444354	3	Q>R		No	ClinGen gnomAD
CA6244648 rs766453666	5	P>L		No	ClinGen ExAC gnomAD
CA382444317 rs1485520621	6	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA382444303 rs1228709755	7	F>L		No	ClinGen TOPMed
rs1355322793 CA382444308	7	F>S		No	ClinGen TOPMed
CA382444294 rs1305747872	8	G>E		No	ClinGen TOPMed
rs1400025047 CA382444302	8	G>R		No	ClinGen Ensembl
rs1215343896 CA382444290	9	P>S		No	ClinGen gnomAD
CA382444283 rs758436913	10	R>G		No	ClinGen ExAC TOPMed gnomAD
rs1227678536 RCV000518522 CA382444281	10	R>Q		No	ClinGen ClinVar dbSNP gnomAD
CA6244647 rs758436913	10	R>W		No	ClinGen ExAC TOPMed gnomAD
CA227541952 rs995009898	11	R>T		No	ClinGen TOPMed gnomAD
rs1031732232 CA227541936	13	S>T		No	ClinGen Ensembl
rs201616541 CA382444244	14	S>F		No	ClinGen gnomAD
CA13551943 rs1472651179	14	S>T		No	ClinGen TOPMed
rs201616541 CA227541933	14	S>Y		No	ClinGen gnomAD
rs1416562342 CA382444238	15	P>R		No	ClinGen TOPMed
CA227541923 rs199684501	16	R>G		No	ClinGen gnomAD
rs1007967905 CA227541919	16	R>P		No	ClinGen TOPMed gnomAD
rs761621479 CA6244644	17	G>D		No	ClinGen ExAC TOPMed gnomAD
rs776553403 CA6244643	18	A>D		No	ClinGen ExAC
rs1476525236 CA382444218	18	A>S		No	ClinGen gnomAD
rs1192568508 CA382444211	19	A>P		No	ClinGen TOPMed gnomAD
rs1192568508 CA382444213	19	A>T		No	ClinGen TOPMed gnomAD
CA6244641 rs760415536	20	G>A		No	ClinGen ExAC gnomAD
COSM1230510 rs763965902 CA6244642	20	G>R	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1272346225 CA382444180	22	A>D		No	ClinGen TOPMed gnomAD
rs1272346225 CA382444179	22	A>G		No	ClinGen TOPMed gnomAD
rs1217863476 CA382444172	23	A>G		No	ClinGen TOPMed
CA382444175 rs1341048600	23	A>T		No	ClinGen gnomAD
CA382444171 rs1217863476	23	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA382444163 rs1249201938	24	R>P		No	ClinGen gnomAD
TCGA novel	25	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA382444141 rs1277437769	26	N>K		No	ClinGen TOPMed
CA382444149 rs1306324106	26	N>Y		No	ClinGen gnomAD
TCGA novel	27	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1370841906 CA382444132	27	E>G		No	ClinGen gnomAD
rs1439312680 CA382444138	27	E>K		No	ClinGen gnomAD
CA382444137 rs1439312680	27	E>Q		No	ClinGen gnomAD
rs773703219 CA6244636	28	S>N		No	ClinGen ExAC gnomAD
rs200642639 CA6244635	28	S>R		No	ClinGen ExAC TOPMed gnomAD
CA382444103 rs1394618815	30	D>H		No	ClinGen gnomAD
rs748591905 CA6244634	31	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA6244629 rs758531773	34	M>K		No	ClinGen ExAC TOPMed gnomAD
CA6244630 rs758531773	34	M>R		No	ClinGen ExAC TOPMed gnomAD
rs747266503 CA6244631	34	M>V		No	ClinGen ExAC gnomAD
rs1419211141 CA382444047	35	D>G		No	ClinGen gnomAD
CA382444051 rs1182279573	35	D>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs371074397 COSM1230509 CA6244627	36	S>L	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA382444040 rs1401757044	36	S>P		No	ClinGen TOPMed
CA6244625 rs562226324	37	E>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA6244623 rs760505463	39	G>E		No	ClinGen ExAC gnomAD
rs1280589270 CA382444000	40	E>V		No	ClinGen gnomAD
CA382443986 rs767327382	41	D>E		No	ClinGen ExAC TOPMed gnomAD
CA382443980 rs1415600735	42	G>A		No	ClinGen gnomAD
CA6244620 rs759107251	42	G>C		No	ClinGen ExAC TOPMed gnomAD
rs759107251 CA227541835	42	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs149263696 CA382443963	44	P>A		No	ClinGen ESP TOPMed gnomAD
CA227541808 rs865804027	44	P>Q		No	ClinGen Ensembl
rs149263696 CA227541816	44	P>S		No	ClinGen ESP TOPMed gnomAD
CA382443950 rs1424446928	45	Q>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs138588871 CA227541803	46	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA6244618 rs138588871	46	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA6244616 rs769034524	47	P>A		No	ClinGen ExAC TOPMed gnomAD
rs780362215 CA6244613	47	P>L		No	ClinGen ExAC TOPMed gnomAD
rs780362215 CA6244614	47	P>R		No	ClinGen ExAC TOPMed gnomAD
CA6244615 rs769034524	47	P>T		No	ClinGen ExAC TOPMed gnomAD
rs772400731 CA6244612	49	P>S		No	ClinGen ExAC TOPMed gnomAD
rs746061548 CA6244611	51	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs746061548 CA382443898	51	Y>S		No	ClinGen ExAC TOPMed gnomAD
rs919391011 CA227541771	52	G>C		No	ClinGen TOPMed gnomAD
CA6244610 rs779060558	52	G>D		No	ClinGen ExAC TOPMed gnomAD
rs1234217519 CA382443850	54	Y>*		No	ClinGen TOPMed gnomAD
rs868324043 CA227541757	54	Y>C		No	ClinGen TOPMed gnomAD
rs757215664 CA6244609	54	Y>H		No	ClinGen ExAC gnomAD
CA382443845 rs1213917373	55	P>H		No	ClinGen TOPMed gnomAD
CA382443847 rs1357621513	55	P>S		No	ClinGen TOPMed gnomAD
TCGA novel	56	C>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs753857142 CA6244608	57	F>L		No	ClinGen ExAC gnomAD
CA6244577 rs202230574	58	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs775385197 CA227535959	60	S>C		No	ClinGen gnomAD
rs1234880951 CA382451948	61	D>H		No	ClinGen gnomAD
CA382451930 rs1202651542	62	N>S		No	ClinGen gnomAD
CA227535952 rs747576510	63	R>G		No	ClinGen Ensembl
CA6244574 rs541383617	65	A>D		No	ClinGen 1000Genomes ExAC gnomAD
CA6244575 rs541383617	65	A>V		No	ClinGen 1000Genomes ExAC gnomAD
CA6244573 rs201084042	66	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs200031940 CA6244572	67	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs780939921 CA6244570	67	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs200031940 CA6244571	67	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA601426512 rs1565221792	68	R>I		No	ClinGen Ensembl
CA6244568 rs369866012	68	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA6244569 rs754919065	68	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA382451823 rs1299581932	70	T>A		No	ClinGen TOPMed gnomAD
rs1012792936 CA227535917	71	V>L		No	ClinGen Ensembl
rs200138684 CA227535915	73	R>C		No	ClinGen TOPMed gnomAD
CA382451765 rs1591094777	74	E>G		No	ClinGen Ensembl
CA382451746 rs1393863366	75	K>R		No	ClinGen gnomAD
TCGA novel	77	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA227535909 rs201516250	78	R>K		No	ClinGen ExAC TOPMed gnomAD
rs201516250 CA6244563	78	R>T		No	ClinGen ExAC TOPMed gnomAD
CA6244561 rs767960297 CA6244562	79	L>*		No	ClinGen ExAC TOPMed gnomAD
CA382451683 rs1591094753	79	L>V		No	ClinGen Ensembl
rs200774833 CA227535884	81	N>S		No	ClinGen TOPMed gnomAD
rs760057556 CA382451639	82	R>P		No	ClinGen ExAC TOPMed gnomAD
rs760057556 CA6244560	82	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA382451621 rs199497734	83	G>A		No	ClinGen TOPMed
rs199497734 CA227535876	83	G>E		No	ClinGen TOPMed
rs202083439 CA227535870	84	P>T		No	ClinGen Ensembl
rs199652243 CA227535858	87	M>L		No	ClinGen ExAC TOPMed gnomAD
CA6244558 rs199652243	87	M>V		No	ClinGen ExAC TOPMed gnomAD
CA382451504 RCV000681839 rs1565221699	89	S>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ClinVar Ensembl NCI-TCGA dbSNP
rs145652328 CA6244556	90	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs770014593 CA6244554	91	R>H		No	ClinGen ExAC TOPMed gnomAD
CA382451444 rs1416158197	92	S>F		No	ClinGen gnomAD
CA382451458 rs1591094678	92	S>P		No	ClinGen Ensembl
CA6244551 rs768539008	93	T>A		No	ClinGen ExAC TOPMed gnomAD
rs746947696 CA6244550	93	T>K		No	ClinGen ExAC TOPMed gnomAD
CA382451442 rs768539008	93	T>P		No	ClinGen ExAC TOPMed gnomAD
CA382451436 rs746947696	93	T>R		No	ClinGen ExAC TOPMed gnomAD
CA382451416 rs1490609376	94	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA382451386 rs1454783742	95	L>P		No	ClinGen gnomAD
TCGA novel	96	S>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs560258133 CA227535782	96	S>C		No	ClinGen Ensembl
rs758125766 CA6244548	97	I>M		No	ClinGen ExAC gnomAD
CA6244549 rs779730024	97	I>V		No	ClinGen ExAC
rs201465098 CA227535757	98	E>K		No	ClinGen Ensembl
rs201977212 CA6244547	101	R>C		No	ClinGen ExAC gnomAD
rs778491013 CA6244546	101	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA6244543 rs777333211	102	F>S		No	ClinGen ExAC gnomAD
rs907022047 CA227535714	103	L>S		No	ClinGen TOPMed
rs1454614458 CA382451200	105	A>V		No	ClinGen gnomAD
rs1328216756 CA382451167	107	E>*		No	ClinGen gnomAD
CA382451160 rs1426278532	107	E>A		No	ClinGen TOPMed
rs755453317 CA382451123	108	Y>*		No	ClinGen ExAC TOPMed gnomAD
CA6244541 rs752036394	111	I>L		No	ClinGen ExAC gnomAD
rs200463086 CA227535696	111	I>N		No	ClinGen Ensembl
rs200841275 RCV001261436 CA227535657	114	V>L		No	ClinGen ClinVar Ensembl dbSNP
COSM386458 CA382450962 rs750792087	115	R>P	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA6244538 rs750792087	115	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA6244539 rs199884871	115	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs765593566 CA6244537	116	K>E		No	ClinGen ExAC gnomAD
CA227535654 rs201569636	117	M>I		No	ClinGen Ensembl
CA6244536 rs762086661	117	M>T		No	ClinGen ExAC gnomAD
CA227535653 rs141546717 COSM110323	118	L>*	skin [Cosmic]	No	ClinGen cosmic curated Ensembl
rs768728489 CA6244534	125	N>H		No	ClinGen ExAC gnomAD
rs201643083 CA6244531	125	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs370656422 CA6244529	126	V>F		No	ClinGen ESP ExAC gnomAD
rs370656422 CA6244530	126	V>I		No	ClinGen ESP ExAC gnomAD
CA382450653 rs1430367710	128	C>S		No	ClinGen TOPMed gnomAD
TCGA novel	129	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM3978988 rs748797242 CA227535600	130	D>E	lung [Cosmic]	No	ClinGen cosmic curated Ensembl
rs1263846477 CA382450595	132	M>I		No	ClinGen gnomAD
CA382450568 rs1464309476	135	N>D		No	ClinGen gnomAD
CA227535594 rs377323677	136	A>T		No	ClinGen ESP TOPMed
rs1273605358 CA382450553	136	A>V		No	ClinGen gnomAD
RCV000225058 CA10581553 rs878853208	140	A>E		No	ClinGen ClinVar Ensembl dbSNP
CA6244527 rs199798745	141	V>L		No	ClinGen ExAC gnomAD
TCGA novel	142	A>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	142	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA227535577 rs758873964	144	E>G		No	ClinGen Ensembl
rs1565221475 CA382450456	146	L>V		No	ClinGen Ensembl
rs1385719581 CA382450418	149	T>K		No	ClinGen TOPMed
TCGA novel	150	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6244523 rs539628939	151	L>F		No	ClinGen ExAC gnomAD
RCV000225016 rs878853207 CA10581552	152	L>P		No	ClinGen ClinVar Ensembl dbSNP
CA382450392 rs1372316873	153	L>V		No	ClinGen gnomAD
rs866748127 CA227535531	156	E>K		No	ClinGen Ensembl
CA382450335 rs1385398275	157	N>K		No	ClinGen TOPMed gnomAD
rs35857503 CA227535526 VAR_038419	157	N>T		No	ClinGen UniProt Ensembl dbSNP
CA6244521 rs750881811	158	L>F		No	ClinGen ExAC gnomAD
rs1004058102 CA227535469	159	S>F		No	ClinGen Ensembl
rs201779770 CA227535438	160	R>*		No	ClinGen TOPMed gnomAD
rs931027910 CA227535429	160	R>L		No	ClinGen gnomAD
CA382450315 rs931027910	160	R>P		No	ClinGen gnomAD
rs761950641 CA382450294	163	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA6244519 rs761950641	163	D>Y		No	ClinGen ExAC gnomAD
rs1236913543 CA382450279	164	A>G		No	ClinGen TOPMed gnomAD
rs920999461 CA227535405	164	A>T		No	ClinGen Ensembl
TCGA novel	164	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6244518 rs368241822	166	L>I		No	ClinGen ExAC TOPMed gnomAD
rs199617881 CA227535389	167	L>V		No	ClinGen ExAC gnomAD
TCGA novel	169	I>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA382450219 rs1253474684	170	S>R		No	ClinGen gnomAD
CA382450195 rs1357093320	172	G>V		No	ClinGen TOPMed
rs760761639 CA6244516	174	V>I		No	ClinGen ExAC gnomAD
rs775527022 CA6244515	177	V>M		No	ClinGen ExAC gnomAD
CA382450139 rs1336834471	179	A>T		No	ClinGen TOPMed
CA382450126 rs878853206	180	I>N		No	ClinGen gnomAD
CA10581551 RCV000225086 rs878853206	180	I>T		No	ClinGen ClinVar dbSNP gnomAD
CA6244512 rs774190092	181	L>V		No	ClinGen ExAC gnomAD
rs201410126 CA227535350	182	S>G		No	ClinGen gnomAD
CA6244511 rs770692012	182	S>N		No	ClinGen ExAC gnomAD
rs748923301 CA6244510	183	H>R		No	ClinGen ExAC TOPMed gnomAD
CA6244508 rs200198559	184	P>L	Variant assessed as Somatic; 4.623e-05 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA6244509 rs772870318	184	P>T		No	ClinGen ExAC gnomAD
rs780841459 CA6244506	185	A>V		No	ClinGen ExAC
CA6244505 rs759028230	187	A>S		No	ClinGen ExAC gnomAD
rs746315421 CA6244504	189	G>V		No	ClinGen ExAC TOPMed gnomAD
rs779429635 CA6244503	190	K>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs201153592 CA6244502	190	K>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs764428462 CA6244500	191	R>S		No	ClinGen ExAC gnomAD
CA227535313 rs967524458	192	L>V		No	ClinGen TOPMed
rs1203056360 CA382449982	193	A>T		No	ClinGen TOPMed
rs1591094172 CA382449971	194	T>P		No	ClinGen Ensembl
CA6244495 rs752842198	196	P>L		No	ClinGen ExAC gnomAD
CA382449912 rs1199221327	199	S>C		No	ClinGen gnomAD
CA382449914 rs1199221327	199	S>Y		No	ClinGen gnomAD
CA6244494 rs145358649	200	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	200	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs267602665 CA382449888	202	Q>*		No	ClinGen gnomAD
CA227535292 rs267602665	202	Q>K		No	ClinGen gnomAD
rs759484314 CA6244493	202	Q>R		No	ClinGen ExAC gnomAD
CA6244492 rs577860483	203	Q>H		No	ClinGen 1000Genomes ExAC gnomAD
CA6244490 rs762853760	205	D>G		No	ClinGen ExAC gnomAD
CA382449855 rs766108737	205	D>N		No	ClinGen ExAC gnomAD
CA6244491 rs766108737	205	D>Y		No	ClinGen ExAC gnomAD
CA382449833 rs1428307947	206	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs1186563651 CA382449827	207	Y>S		No	ClinGen TOPMed
CA6244488 rs769554268	209	Y>C		No	ClinGen ExAC gnomAD
rs1332223185 CA382449809	209	Y>N		No	ClinGen gnomAD
CA382449791 rs776291284 CA6244486	210	D>E		No	ClinGen ExAC TOPMed gnomAD
CA382449773 rs1591094085	212	D>H		No	ClinGen Ensembl
rs1473445552 CA382449770	212	D>V		No	ClinGen gnomAD
TCGA novel	212	D>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs768210838 CA6244485 RCV000681833	215	R>W		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA6244482 rs150033580	223	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1442354978 CA382449628	227	A>T		No	ClinGen gnomAD
CA6244480 rs777998415	231	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs200066139 CA227535257	232	Y>H		No	ClinGen Ensembl
TCGA novel	232	Y>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6244479 rs756416699	233	E>*		No	ClinGen ExAC gnomAD
rs1327520193 CA382449528	235	V>L		No	ClinGen gnomAD
CA6244476 rs755001257	240	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA6244477 COSM3383139 rs201054988	240	R>W	pancreas [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA227535222 rs199854499 CA6244475	241	K>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs1264036142 CA382449464	242	G>C		No	ClinGen TOPMed
CA6244474 rs766379236	243	A>P		No	ClinGen ExAC gnomAD
CA6244473 rs762792271	243	A>V		No	ClinGen ExAC gnomAD
CA382449447 rs1318887817	244	R>K		No	ClinGen gnomAD
CA227535207 rs535197413	245	I>T		No	ClinGen TOPMed
rs773114571 CA6244472	247	R>Q		No	ClinGen ExAC gnomAD
rs201859973 RCV000270681 COSM1127956 CA10629687	247	R>W	Variant assessed as Somatic; impact. prostate [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ClinVar NCI-TCGA TOPMed dbSNP gnomAD
rs1384834600 CA382449381	250	D>V		No	ClinGen gnomAD
CA382449389 rs1565221173	250	D>Y		No	ClinGen Ensembl
rs764878302 CA6244471	251	Y>C		No	ClinGen ExAC gnomAD
CA382449288 rs761558652	253	C>F		No	ClinGen ExAC TOPMed gnomAD
CA6244470 rs761558652	253	C>Y		No	ClinGen ExAC TOPMed gnomAD
rs866830558 CA227535174	255	C>*		No	ClinGen gnomAD
rs571876475 CA227535180	255	C>Y		No	ClinGen Ensembl
rs776386479 CA6244469	256	N>S		No	ClinGen ExAC gnomAD
rs1480010257 CA382449151	258	C>S		No	ClinGen TOPMed
rs199946947 CA227535154	263	K>T		No	ClinGen Ensembl
rs1243265024 CA382448998	264	H>R		No	ClinGen gnomAD
rs868709579 CA227535140	265	D>N		No	ClinGen Ensembl
rs1463897495 CA382448844	270	S>C		No	ClinGen gnomAD
CA382448788 rs1214634100	273	R>K		No	ClinGen TOPMed gnomAD
CA6244465 rs774834491	273	R>S		No	ClinGen ExAC gnomAD
RCV000722258 CA382448676 rs534941786	277	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ClinVar 1000Genomes NCI-TCGA TOPMed dbSNP
CA227535125 rs534941786	277	Y>S		No	ClinGen 1000Genomes TOPMed
rs1227885062 CA382448649 COSM1704470	279	G>S	skin [Cosmic]	No	ClinGen cosmic curated gnomAD
CA382448599 rs1401786192	280	L>R		No	ClinGen TOPMed
rs1270752540 CA382448622	280	L>V		No	ClinGen gnomAD
CA382448552 rs1437212772	283	P>L		No	ClinGen gnomAD
rs1437212772 CA382448553	283	P>Q		No	ClinGen gnomAD
rs1320932707 CA382448558	283	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1157512259 CA382448545	284	A>T		No	ClinGen TOPMed gnomAD
CA6244459 rs748391152	287	S>*		No	ClinGen ExAC gnomAD
CA6244458 rs781441261	289	S>C		No	ClinGen ExAC gnomAD
CA382448471 rs1404283777	290	S>N		No	ClinGen gnomAD
TCGA novel	291	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs375722338 CA6244457	291	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA6244456 rs751726256	296	T>A		No	ClinGen ExAC gnomAD
CA6244455 rs199743177	296	T>M		No	ClinGen ExAC TOPMed gnomAD
CA382448274 rs1351580703	299	E>Q		No	ClinGen TOPMed
CA227535002 rs199597661	300	L>F		No	ClinGen Ensembl
CA227534984 rs748546774	302	N>S		No	ClinGen Ensembl
TCGA novel	303	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA227534979 rs201284689	305	A>S		No	ClinGen TOPMed
rs201284689 CA382448084	305	A>T		No	ClinGen TOPMed
CA382448068 rs1221086940	305	A>V		No	ClinGen gnomAD
CA382445512 rs1350791909	316	N>S		No	ClinGen gnomAD
CA382445493 rs1407502671 CA382445492	317	D>E		No	ClinGen TOPMed gnomAD
rs1285475690 CA382445488	318	Y>H		No	ClinGen gnomAD
rs750400201 CA6244432	319	K>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA6244431 rs779046630 COSM3808161	322	S>L	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA6244430 rs757232833	323	M>V		No	ClinGen ExAC gnomAD
CA382445415 rs1175811834	324	Q>R		No	ClinGen TOPMed gnomAD
CA6244429 rs150706267	325	C>G		No	ClinGen ESP ExAC TOPMed
rs760419631 CA6244427	327	D>N		No	ClinGen ExAC gnomAD
rs1472333430 CA382445312	331	G>V		No	ClinGen gnomAD
CA382445303 rs1258343510	332	L>P		No	ClinGen gnomAD
TCGA novel	333	L>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1351363123 CA382445214	337	R>S		No	ClinGen gnomAD
CA6244424 rs767086724	338	N>S		No	ClinGen ExAC TOPMed gnomAD
rs866249381 CA227525404	343	E>K		No	ClinGen TOPMed
CA6244420 rs201993968	344	A>D		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	344	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs951150843 CA227525379	345	I>T		No	ClinGen Ensembl
rs776990391 CA6244419	345	I>V		No	ClinGen ExAC gnomAD
CA382445002 rs1591082847	346	L>P		No	ClinGen Ensembl
CA227525369 rs200661450	352	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs200661450 CA382444859	352	T>R		No	ClinGen TOPMed gnomAD
CA6244415 rs772320611	354	Q>H		No	ClinGen ExAC gnomAD
CA382444813 rs1368104488	355	S>N		No	ClinGen TOPMed
rs1036112313 RCV001342910 CA227525356	355	S>R		No	ClinGen ClinVar TOPMed dbSNP gnomAD
rs779132904 CA382444732	359	G>R		No	ClinGen ExAC TOPMed gnomAD
CA6244413 rs779132904	359	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA6244412 rs749181706	360	R>C	Variant assessed as Somatic; 4.625e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs749181706 CA6244411	360	R>G		No	ClinGen ExAC gnomAD
CA382444662 rs1591082795	364	S>G		No	ClinGen Ensembl
CA382444649 rs1181189882	364	S>R		No	ClinGen gnomAD
CA227525324 rs199841405	365	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs755825482 COSM199692 CA6244409	365	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA6244408 rs752514345	370	I>V		No	ClinGen ExAC gnomAD
CA382444523 rs1265647155	373	E>K		No	ClinGen gnomAD
CA227525301 rs887307136	374	V>L		No	ClinGen TOPMed gnomAD
rs1319369598 CA382444480	375	K>I		No	ClinGen gnomAD
CA6244407 rs767115691 COSM1268675	376	K>N	oesophagus [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
TCGA novel	376	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	377	F>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs757446904	377	F>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA382443698 rs1372399975	378	V>I		No	ClinGen gnomAD
rs749269664 CA6244389	385	Q>R		No	ClinGen ExAC gnomAD
CA382443641 rs1295883553	386	Q>*		No	ClinGen Ensembl
rs777804994 CA6244388	392	Y>C		No	ClinGen ExAC gnomAD
rs756046212 CA6244387	393	E>G		No	ClinGen ExAC gnomAD
CA382443528 rs1431100131	394	N>I		No	ClinGen gnomAD
rs1040882242 CA227523455	395	L>F		No	ClinGen Ensembl
CA382443510 rs1266215919	396	S>P		No	ClinGen TOPMed gnomAD
rs200479189 CA6244384	399	R>*		No	ClinGen ExAC TOPMed gnomAD
rs199747455 CA227523414	399	R>P		No	ClinGen ExAC TOPMed gnomAD
rs199747455 CA6244383 COSM540248	399	R>Q	lung Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs757851674 CA6244381	402	T>A		No	ClinGen ExAC TOPMed gnomAD
rs757851674 CA6244382	402	T>P		No	ClinGen ExAC TOPMed gnomAD
rs374441143 CA6244378	403	M>I		No	ClinGen ESP ExAC gnomAD
rs749909773 CA6244380	403	M>V		No	ClinGen ExAC TOPMed gnomAD
CA227523407 rs36111323	404	A>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA382443401 rs1591080562	405	V>G		No	ClinGen Ensembl
rs1424208536 CA382443393	406	K>R		No	ClinGen TOPMed
CA227523402 rs926282550	407	F>L		No	ClinGen Ensembl
CA382443367 rs1409334784	408	L>V		No	ClinGen TOPMed gnomAD
CA6244373 rs774677505	409	V>A		No	ClinGen ExAC gnomAD
rs1428216871 CA382443327	411	L>F		No	ClinGen TOPMed gnomAD
CA6244370 rs773420331	413	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1591080485 CA382443277	414	A>D		No	ClinGen Ensembl
CA382443276 rs201549192	415	I>L		No	ClinGen gnomAD
CA6244369 rs142533998	415	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA227523391 rs201549192	415	I>V		No	ClinGen gnomAD
CA382443263 rs1591080471	416	G>R		No	ClinGen Ensembl
rs991796082 CA227523366	418	P>A		No	ClinGen TOPMed
TCGA novel	423	I>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1591080443 CA382443164	424	Y>F		No	ClinGen Ensembl
TCGA novel rs1269061700 CA382443145	425	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen gnomAD
rs1230486158 CA382443117	426	F>S		No	ClinGen gnomAD
CA227523351 rs202114017	429	C>R		No	ClinGen Ensembl
rs779728179 CA6244364	430	S>G		No	ClinGen ExAC gnomAD
rs1386079319 CA382442288	432	M>T		No	ClinGen gnomAD
rs1269385040 CA382442268	433	G>R		No	ClinGen TOPMed
rs185294174 CA227519056	435	I>M		No	ClinGen 1000Genomes
CA6244344 RCV001261435 rs145580926 COSM2107583	437	R>C	Variant assessed as Somatic; 0.0 impact. liver [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs199503731 CA6244343	437	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs199503731 CA382442180	437	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA382442179 rs1160907004	438	G>R		No	ClinGen gnomAD
CA227519030 rs200144077	439	P>A		No	ClinGen Ensembl
CA6244342 rs745469798	439	P>L		No	ClinGen ExAC TOPMed gnomAD
rs745469798 CA382442159	439	P>R		No	ClinGen ExAC TOPMed gnomAD
rs200144077 CA382442165	439	P>S		No	ClinGen Ensembl
rs867499956 CA227519023	441	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA382442081 rs1187936676	443	F>I		No	ClinGen Ensembl
CA382442044 rs1241795173	444	V>A		No	ClinGen gnomAD
CA382442049 rs1463800772	444	V>L		No	ClinGen gnomAD
TCGA novel	445	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM176699 rs1419102467 CA382442008	447	A>T	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs1358719801 CA382441967	449	S>A		No	ClinGen gnomAD
CA382441964 rs1407168029	449	S>F		No	ClinGen TOPMed
CA6244337 rs200539886	452	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs138724461 CA227518958	453	F>L		No	ClinGen ESP gnomAD
CA227518916 rs201918314	459	M>V		No	ClinGen Ensembl
CA227518907 rs957516043	467	G>D		No	ClinGen Ensembl
TCGA novel	468	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs200918314 CA227518906	468	T>P		No	ClinGen Ensembl
rs1565211513 CA382441684	469	K>E		No	ClinGen Ensembl
rs1591075677 CA382441669	470	L>F		No	ClinGen Ensembl
TCGA novel	472	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA382441639 rs1224405018	473	N>H		No	ClinGen TOPMed
rs750615513 CA6244333	474	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA227518890 rs926151822	475	T>A		No	ClinGen Ensembl
rs1448152599 CA382441597	476	S>G		No	ClinGen gnomAD
rs1419291323 CA382441594	476	S>N		No	ClinGen gnomAD
CA227518866 rs980363393	477	T>K		No	ClinGen TOPMed
CA227518871 rs980363393	477	T>R		No	ClinGen TOPMed
CA6244331 rs761999321	478	D>H		No	ClinGen ExAC gnomAD
CA227518840 rs1037759642	478	D>V		No	ClinGen TOPMed
CA382441461 rs1235751347	484	F>L		No	ClinGen gnomAD
rs1565211472 CA382441472	484	F>L		No	ClinGen Ensembl
rs202121529 CA227518837	486	M>K		No	ClinGen Ensembl
CA382441428 rs1479138336	487	K>T		No	ClinGen TOPMed gnomAD
CA382441377 COSM1506268 rs1490762968	491	F>L	lung [Cosmic]	No	ClinGen cosmic curated TOPMed
rs1460843912 CA382441348	492	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1186919393 CA382441359	492	S>P		No	ClinGen TOPMed gnomAD
TCGA novel	493	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA382441334 rs1565211445 RCV000722659	493	W>S		No	ClinGen ClinVar Ensembl dbSNP
CA382441311 rs1591075598	494	M>I		No	ClinGen Ensembl
TCGA novel	495	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA382441302 rs1470342821	495	E>D		No	ClinGen TOPMed
RCV001261434 CA382441304 rs1231955948	495	E>G		No	ClinGen ClinVar TOPMed dbSNP
CA382441267 rs1565211433 COSM249264	499	I>L	kidney [Cosmic]	No	ClinGen cosmic curated Ensembl
rs1178412066 CA382441222	502	V>I		No	ClinGen TOPMed
CA382441208 rs1411043425	503	I>V		No	ClinGen TOPMed
rs760594621 CA6244328	504	G>R		No	ClinGen ExAC gnomAD
CA227514136 rs908640812	505	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs983934005 CA227514123	506	I>L		No	ClinGen Ensembl
rs1414237108 CA382441095	506	I>M		No	ClinGen TOPMed
CA6244309 rs200561342	506	I>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA227514114 rs867526639	507	W>*		No	ClinGen Ensembl
rs759424411 CA6244308	510	C>R		No	ClinGen ExAC TOPMed gnomAD
rs773987404 CA6244307	513	I>M		No	ClinGen ExAC gnomAD
TCGA novel	516	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA227514075 rs200418623	517	G>D		No	ClinGen Ensembl
RCV000722665 CA382441020 rs1565209021	517	G>S		No	ClinGen ClinVar Ensembl dbSNP
rs544530810 CA6244305	518	P>L		No	ClinGen 1000Genomes ExAC gnomAD
rs1451241250 CA382441004	519	K>N		No	ClinGen gnomAD
CA6244304 rs748832998	519	K>R		No	ClinGen ExAC gnomAD
TCGA novel	520	E>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1389159253 CA382440982	522	L>F		No	ClinGen TOPMed gnomAD
rs201258942 CA6244303	524	E>D		No	ClinGen ExAC gnomAD
rs202166137 CA227514062	524	E>Q		No	ClinGen Ensembl
CA6244302 rs575503625	526	W>C		No	ClinGen 1000Genomes ExAC gnomAD
rs371603665 CA6244301	528	M>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA382440942 rs1430023781	528	M>V		No	ClinGen TOPMed
TCGA novel	530	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1464421529 CA382440919	531	F>L		No	ClinGen gnomAD
rs780751275 CA6244300	533	M>K		No	ClinGen ExAC gnomAD
CA6244299 rs758940245	534	L>S		No	ClinGen ExAC TOPMed gnomAD
rs200486728 CA6244297	536	I>V		No	ClinGen ExAC TOPMed gnomAD
CA6244293 rs777864888	543	A>E		No	ClinGen ExAC gnomAD
COSM1268673 CA382440837 rs777864888	543	A>V	Variant assessed as Somatic; 0.0 impact. oesophagus [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA382440820 rs1241043006	546	M>V		No	ClinGen gnomAD
TCGA novel	548	F>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1341674903 CA382440787	550	H>Y		No	ClinGen TOPMed
TCGA novel	554	A>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6244290 rs202139115	556	S>T		No	ClinGen 1000Genomes ExAC gnomAD
rs759388143 CA6244289	557	I>V		No	ClinGen ExAC gnomAD
CA382440731 rs1276794439	558	I>T		No	ClinGen TOPMed
rs199892792 CA6244287	560	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA6244285 rs772949924	562	D>N		No	ClinGen ExAC gnomAD
CA6244284 rs769545290	563	T>S		No	ClinGen ExAC gnomAD
rs370821915 CA6244283	566	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA6244281 rs772690406 COSM199689	568	T>M	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA6244279 rs368012446	570	V>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs1318751144 CA382440644	571	T>I		No	ClinGen gnomAD
CA382440634 rs1565208910	573	G>R		No	ClinGen Ensembl
rs771163499 CA382440616	575	N>I		No	ClinGen ExAC gnomAD
CA6244278 rs771163499	575	N>S		No	ClinGen ExAC gnomAD
CA382440617 rs771163499	575	N>T		No	ClinGen ExAC gnomAD
rs778018923 CA6244276	579	Y>C		No	ClinGen ExAC gnomAD
rs201304687 CA6244275	580	N>S		No	ClinGen ExAC gnomAD
TCGA novel	581	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6244255 rs370639681	584	I>L		No	ClinGen ESP ExAC gnomAD
CA6244251 rs747089189	587	D>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1344853207 CA382440512	588	P>A		No	ClinGen TOPMed gnomAD
CA10581538 rs878853193 RCV000225032	589	S>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ClinVar Ensembl NCI-TCGA dbSNP
rs1174005732 CA382440427	601	I>V		No	ClinGen TOPMed
rs1331964311 CA382440413	603	V>L		No	ClinGen gnomAD
TCGA novel	607	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA382440362 rs1381113988	610	I>T		No	ClinGen TOPMed
CA382440357 rs1373234274	611	A>G		No	ClinGen TOPMed gnomAD
rs765063757 CA6244247	613	I>V		No	ClinGen ExAC gnomAD
CA6244246 rs756977825	615	P>L		No	ClinGen ExAC gnomAD
rs1430341262 CA382440321	617	N>D		No	ClinGen gnomAD
TCGA novel	621	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1398476278 CA382440282	622	P>S		No	ClinGen TOPMed gnomAD
CA382440274 rs1299171408	623	L>P		No	ClinGen gnomAD
rs199577919 CA227511615	625	I>L		No	ClinGen Ensembl
CA382440254 rs1377884231	626	S>L		No	ClinGen gnomAD
rs1565207766 CA382440244	628	G>E		No	ClinGen Ensembl
rs61745699 CA227511584	630	T>P		No	ClinGen Ensembl
CA6244239 rs200087630	631	V>I		No	ClinGen 1000Genomes ExAC gnomAD
COSM316201 rs1591068214 CA382440177	638	M>V	lung [Cosmic]	No	ClinGen cosmic curated Ensembl
rs1591068211 CA382440163	640	I>L		No	ClinGen Ensembl
TCGA novel	641	F>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	642	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
RCV001254652 rs1859343311	644	V>L		No	ClinVar dbSNP
CA382440111 rs1221943407	647	A>T		No	ClinGen gnomAD
rs1565207722 CA382440071	652	M>I		No	ClinGen Ensembl
rs1348854784 CA382440076	652	M>V		No	ClinGen TOPMed
rs776767402 CA6244234	658	Y>C		No	ClinGen ExAC gnomAD
CA382440021 rs1411729867	659	Y>C		No	ClinGen TOPMed gnomAD
rs1017254379 CA227511529	659	Y>H		No	ClinGen Ensembl
rs1411729867 CA382440022	659	Y>S		No	ClinGen TOPMed gnomAD
rs768887934 CA6244233	660	I>V		No	ClinGen ExAC gnomAD
TCGA novel	670	T>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs199992311 CA227511518	670	T>I		No	ClinGen TOPMed
CA382439576 rs1157410902	680	W>*		No	ClinGen gnomAD
TCGA novel	681	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1451821683 CA382439568	682	I>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA382439542 rs200226540	686	S>P		No	ClinGen Ensembl
rs200226540 CA227510531	686	S>T		No	ClinGen Ensembl
rs202219188 CA6244214	692	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs747193465 CA6244213	693	I>M		No	ClinGen ExAC gnomAD
CA382439494 rs1444366835	693	I>T		No	ClinGen gnomAD
CA6244212 rs200154450	694	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
COSM211907 CA382439489 rs200154450	694	N>T	breast [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs201874834 CA227510505	695	Y>C		No	ClinGen TOPMed gnomAD
rs1221190635 CA382439483	695	Y>H		No	ClinGen gnomAD
CA382439464 rs1422125455	697	H>Q		No	ClinGen TOPMed
CA382439468 rs1381410936	697	H>Y		No	ClinGen TOPMed
rs1210495307 CA382439449	699	F>C		No	ClinGen gnomAD
CA6244210 rs745826035	700	I>T		No	ClinGen ExAC TOPMed gnomAD
CA6244209 rs779046551	702	N>D		No	ClinGen ExAC gnomAD
rs542370698 CA6244208	703	I>V		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	706	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6244204 rs752330361	706	V>F		No	ClinGen ExAC gnomAD
CA6244205 rs752330361	706	V>I		No	ClinGen ExAC gnomAD
COSM1350298 CA382439401 rs1565207183	707	L>I	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated Ensembl NCI-TCGA
rs1317098759 CA382439397	707	L>P		No	ClinGen gnomAD
rs184304815 CA6244202	713	V>I		No	ClinGen 1000Genomes ExAC gnomAD
rs751038195 CA6244201	714	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA382439296 rs1289618049	722	M>I		No	ClinGen gnomAD
CA6244197 rs192402680	722	M>V		No	ClinGen 1000Genomes ExAC gnomAD
rs1239429250 CA382439279	725	A>T		No	ClinGen TOPMed
CA382439267 rs1308274128	726	M>I		No	ClinGen TOPMed gnomAD
CA6244196 rs760840314	729	S>G		No	ClinGen ExAC
TCGA novel	739	D>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	745	A>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6244174 rs774589749	745	A>S		No	ClinGen ExAC gnomAD
CA6244173 rs771070497	747	A>S		No	ClinGen ExAC gnomAD
rs762831653 CA6244172	748	K>E		No	ClinGen ExAC TOPMed gnomAD
rs762831653 CA382439014	748	K>Q		No	ClinGen ExAC TOPMed gnomAD
CA6244170 rs769584029	750	W>C		No	ClinGen ExAC gnomAD
rs773247461 CA6244171	750	W>R		No	ClinGen ExAC gnomAD
rs1363181408 CA382438961	753	Y>C		No	ClinGen gnomAD
rs776397551 CA6244168	753	Y>H		No	ClinGen ExAC gnomAD
rs1462423592 CA382438949	755	E>K		No	ClinGen gnomAD
CA6244167 rs768310456	756	E>A		No	ClinGen ExAC
CA227509689 rs868410805	756	E>K		No	ClinGen Ensembl
CA6244164 rs187349423	760	L>R		No	ClinGen 1000Genomes ExAC
CA382438907 rs1308467364	761	P>L		No	ClinGen gnomAD
rs745349298 CA6244163	761	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
RCV000681922 CA382438906 rs1565206758	762	V>I		No	ClinGen ClinVar Ensembl dbSNP
TCGA novel	762	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6244160 rs199786058	765	N>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	766	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs200772226 CA382438874	767	V>L		No	ClinGen ExAC TOPMed gnomAD
rs766485406 CA6244156	768	P>L		No	ClinGen ExAC gnomAD
CA227509616 rs868207138	768	P>S		No	ClinGen TOPMed
rs202002330 CA227509603	773	L>P		No	ClinGen 1000Genomes TOPMed
rs199604557 CA227509605	773	L>V		No	ClinGen Ensembl
CA6244153 rs761679913	775	Y>C		No	ClinGen ExAC gnomAD
CA6244154 rs773157063	775	Y>H		No	ClinGen ExAC gnomAD
CA6244152 rs761679913	775	Y>S		No	ClinGen ExAC gnomAD
CA382438821 rs1485234280	776	L>V		No	ClinGen gnomAD
rs746684507 CA6244149	778	L>P		No	ClinGen ExAC TOPMed gnomAD
rs201289003 CA6244148	779	K>N		No	ClinGen 1000Genomes ExAC gnomAD
CA382438801 rs1446204447	779	K>R		No	ClinGen gnomAD
rs200319221 CA227509578	782	K>I		No	ClinGen gnomAD
TCGA novel rs1261982602 CA382438772	783	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen gnomAD
TCGA novel	784	I>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs778273150 CA382438749	786	E>D		No	ClinGen ExAC TOPMed gnomAD
rs913318705 CA227509555	788	F>C		No	ClinGen Ensembl
rs756662207 CA382438713	792	K>*		No	ClinGen ExAC TOPMed gnomAD
rs756662207 CA6244144	792	K>E		No	ClinGen ExAC TOPMed gnomAD
rs748602774 CA6244143	792	K>R		No	ClinGen ExAC gnomAD
CA6244141 rs144927067	793	K>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA6244142 rs781716167	793	K>T		No	ClinGen ExAC gnomAD
CA227509535 rs988892520	794	G>C		No	ClinGen Ensembl
rs1364277931 CA382438700	794	G>D		No	ClinGen gnomAD
rs757567055	794	G>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA227509531 rs866820243	797	E>D		No	ClinGen Ensembl
rs140980724 CA6244137	800	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA6244136 rs750525727	803	K>R		No	ClinGen ExAC TOPMed gnomAD
rs1268795884 CA382438614	804	I>T		No	ClinGen gnomAD
rs769279192 CA6244118	805	N>S		No	ClinGen ExAC gnomAD
CA6244117 rs747431753	806	E>*		No	ClinGen ExAC gnomAD
CA227507901 rs764332573	806	E>A		No	ClinGen Ensembl
rs1226972063 CA382438575	809	K>N		No	ClinGen gnomAD
CA382438572 rs1324465401	810	L>I		No	ClinGen gnomAD
TCGA novel	812	I>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs878853188 RCV000225025 CA10581533	812	I>T		No	ClinGen ClinVar Ensembl dbSNP
CA6244115 rs758651358	813	L>*		No	ClinGen ExAC gnomAD
CA382438548 rs1343606395	814	G>*		No	ClinGen gnomAD
CA227507842 rs138519687 COSM110360	814	G>E	skin [Cosmic]	No	ClinGen cosmic curated gnomAD
CA382438536 rs1391849765	816	H>Y		No	ClinGen gnomAD
CA382438525 rs1591527365	817	E>G		No	ClinGen Ensembl
CA227507822 rs61732606	818	D>A		No	ClinGen Ensembl
rs1276435671 CA382438520	818	D>H		No	ClinGen TOPMed
RCV000225084 CA10581532 rs878853187	819	L>F		No	ClinGen ClinVar Ensembl dbSNP
rs373372163 CA227507804	820	S>P		No	ClinGen TOPMed gnomAD
RCV001047412 CA6244114 CA227507778 rs199948731	821	K>N		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs779070806 CA6244112	825	D>E		No	ClinGen ExAC gnomAD
rs201149400 CA228236134	829	V>I		No	ClinGen gnomAD
rs1182014029 CA382487473	830	G>E		No	ClinGen gnomAD
rs199810047 CA6244096	830	G>R		No	ClinGen ExAC TOPMed gnomAD
rs145480038 CA6244095	831	H>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA6244094 rs746219824	832	N>D		No	ClinGen ExAC gnomAD
CA228236133 rs202091355	835	P>Q		No	ClinGen Ensembl
RCV001309673 rs202091355	835	P>R		No	ClinVar dbSNP
CA6244093 rs779045628	835	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
TCGA novel	836	S>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs757467191 CA6244092	836	S>R		No	ClinGen ExAC TOPMed gnomAD
CA382487429 rs1485564052	837	I>L		No	ClinGen TOPMed
CA382487424 rs1239223549	838	R>G		No	ClinGen gnomAD
rs1383295227 CA382487408	840	S>P		No	ClinGen gnomAD
rs570292972 CA6244090	841	E>D		No	ClinGen 1000Genomes ExAC gnomAD
CA228236132 rs149665208 COSM1350293	842	D>Y	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP NCI-TCGA
TCGA novel	844	H>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1165923760 CA382487371 RCV000681829	845	L>R		No	ClinGen ClinVar dbSNP gnomAD
CA382487367 rs1431428521	846	N>D		No	ClinGen TOPMed
rs367972007 CA6244087	846	N>S		No	ClinGen ESP ExAC TOPMed
CA6244085 rs751363479	847	S>I		No	ClinGen ExAC gnomAD
CA6244084 rs61890853	848	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs762633225 CA6244083	849	N>S		No	ClinGen ExAC gnomAD
rs772849357 CA6244082	850	N>K		No	ClinGen ExAC
CA6244081 rs370081781	852	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA382487302 rs1344278763	855	Y>C		No	ClinGen TOPMed
rs1453822373 CA382487293	856	Q>L		No	ClinGen TOPMed
CA228236001 rs112206284	859	M>K		No	ClinGen ExAC gnomAD
rs112206284 CA6244066	859	M>R		No	ClinGen ExAC gnomAD
TCGA novel	861	R>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs764961245 CA6244063	863	I>V		No	ClinGen ExAC gnomAD
rs1270915817 CA382487226	864	K>R		No	ClinGen gnomAD
rs1219164198 CA382487220	865	R>*		No	ClinGen gnomAD
TCGA novel	865	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1215969038 CA382487197	868	L>P		No	ClinGen gnomAD
RCV001288537 rs1858817266	869	Q>*		No	ClinVar dbSNP
CA228235999 rs745835425	870	A>G		No	ClinGen Ensembl
CA6244059 rs199555333	872	I>M		No	ClinGen ExAC TOPMed gnomAD
rs767968818 CA6244060	872	I>T		No	ClinGen ExAC TOPMed gnomAD
rs200439671 CA228235998	872	I>V		No	ClinGen Ensembl
rs1232547987 CA382487159	874	K>R		No	ClinGen TOPMed
rs1436329586 CA382487129	878	E>A		No	ClinGen gnomAD
rs774704430 CA6244058 COSM428267	878	E>K	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA382487111 rs771248904	880	N>K		No	ClinGen ExAC TOPMed gnomAD
rs1323253296 CA382487103	881	E>D		No	ClinGen TOPMed
TCGA novel	882	G>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA228235919 rs267602664	886	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA382487059 rs1189551557	886	E>V		No	ClinGen TOPMed
CA6244037 rs766852804	887	I>N		No	ClinGen ExAC gnomAD
TCGA novel	888	K>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1591517929 CA382487034 RCV001003821	890	D>N		No	ClinGen ClinVar Ensembl dbSNP
rs1565441167 CA382487022	891	I>T		No	ClinGen Ensembl
rs1565441162 CA382487012	893	S>G		No	ClinGen Ensembl
CA382486997 rs1591517912 RCV001343691	895	R>H		No	ClinGen ClinVar Ensembl dbSNP
rs1318087046 CA382486959	901	E>K		No	ClinGen gnomAD
rs953750960 CA228235917	902	K>*		No	ClinGen TOPMed
rs769919415 CA6244034	902	K>I		No	ClinGen ExAC gnomAD
rs762025800 CA6244033	903	S>F		No	ClinGen ExAC TOPMed gnomAD
rs199630143 CA228235916	907	E>D		No	ClinGen Ensembl
CA6244029 rs780180941	908	D>E		No	ClinGen ExAC gnomAD
CA6244027 rs745717503	911	E>G		No	ClinGen ExAC TOPMed gnomAD
rs1402304594 CA382486892	911	E>Q		No	ClinGen TOPMed
TCGA novel	913	I>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs778713181 CA6244026	913	I>T		No	ClinGen ExAC gnomAD
rs1431533923 CA382486879	913	I>V		No	ClinGen TOPMed gnomAD
COSM1188375 CA382486855 rs1591517850	916	L>P	lung [Cosmic]	No	ClinGen cosmic curated Ensembl
CA382486849 rs1325013248	917	G>A		No	ClinGen TOPMed
TCGA novel	920	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs777174596 CA6244022	921	S>P		No	ClinGen ExAC gnomAD
rs200326564 CA6244019	922	M>T		No	ClinGen 1000Genomes ExAC gnomAD
CA6244020 rs752173839	922	M>V		No	ClinGen ExAC gnomAD
CA382486811 rs763389629	923	E>K		No	ClinGen ExAC TOPMed gnomAD
CA6244018 rs763389629	923	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA228235915 rs201521541	924	P>Q		No	ClinGen gnomAD
rs201521541 CA382486803	924	P>R		No	ClinGen gnomAD
rs1181607976 CA382486796	925	N>I		No	ClinGen gnomAD
rs1362537439 CA382486799	925	N>Y		No	ClinGen gnomAD
rs1344662477 CA382486782	927	E>G		No	ClinGen TOPMed
CA6244016 rs745608223	928	E>D		No	ClinGen ExAC gnomAD
rs1255427709 CA382486777	928	E>K		No	ClinGen TOPMed
TCGA novel	930	N>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1293033610 CA382486760	930	N>S		No	ClinGen gnomAD

1 associated diseases with Q9Y210

[MIM: 603965]: Focal segmental glomerulosclerosis 2 (FSGS2)

A renal pathology defined by the presence of segmental sclerosis in glomeruli and resulting in proteinuria, reduced glomerular filtration rate and progressive decline in renal function. Renal insufficiency often progresses to end-stage renal disease, a highly morbid state requiring either dialysis therapy or kidney transplantation. {ECO:0000269|PubMed:15879175, ECO:0000269|PubMed:15924139, ECO:0000269|PubMed:19458060, ECO:0000269|PubMed:19936226, ECO:0000269|PubMed:20798252, ECO:0000269|PubMed:21511817, ECO:0000269|PubMed:21734084, ECO:0000269|PubMed:22732337, ECO:0000269|PubMed:23014460, ECO:0000269|PubMed:23291369, ECO:0000269|PubMed:26892346}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

A renal pathology defined by the presence of segmental sclerosis in glomeruli and resulting in proteinuria, reduced glomerular filtration rate and progressive decline in renal function. Renal insufficiency often progresses to end-stage renal disease, a highly morbid state requiring either dialysis therapy or kidney transplantation. {ECO:0000269|PubMed:15879175, ECO:0000269|PubMed:15924139, ECO:0000269|PubMed:19458060, ECO:0000269|PubMed:19936226, ECO:0000269|PubMed:20798252, ECO:0000269|PubMed:21511817, ECO:0000269|PubMed:21734084, ECO:0000269|PubMed:22732337, ECO:0000269|PubMed:23014460, ECO:0000269|PubMed:23291369, ECO:0000269|PubMed:26892346}. Note=The disease is caused by variants affecting the gene represented in this entry.

4 regional properties for Q9Y210

Type	Name	Position	InterPro Accession
repeat	Ankyrin repeat	111 - 199	IPR002110-1
repeat	Ankyrin repeat	232 - 261	IPR002110-2
domain	Ion transport domain	489 - 754	IPR005821
domain	Transient receptor ion channel domain	267 - 329	IPR013555

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

6 GO annotations of cellular component

Name	Definition
cation channel complex	An ion channel complex through which cations pass.
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
integral component of plasma membrane	The component of the plasma membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.
membrane	A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
slit diaphragm	A specialized cell-cell junction found between the interdigitating foot processes of the glomerular epithelium (the podocytes) in the vertebrate kidney, which is adapted for facilitating glomerular filtration.

5 GO annotations of molecular function

Name	Definition
calcium channel activity	Enables the facilitated diffusion of a calcium ion (by an energy-independent process) involving passage through a transmembrane aqueous pore or channel without evidence for a carrier-mediated mechanism.
cation channel activity	Enables the energy-independent passage of cations across a lipid bilayer down a concentration gradient.
inositol 1,4,5 trisphosphate binding	Binding to inositol 1,4,5 trisphosphate.
protein homodimerization activity	Binding to an identical protein to form a homodimer.
store-operated calcium channel activity	A ligand-gated ion channel activity which transports calcium in response to emptying of intracellular calcium stores.

8 GO annotations of biological process

Name	Definition
calcium ion transmembrane transport	A process in which a calcium ion is transported from one side of a membrane to the other by means of some agent such as a transporter or pore.
cation transport	The directed movement of cations, atoms or small molecules with a net positive charge, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.
manganese ion transport	The directed movement of manganese (Mn) ions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.
positive regulation of calcium ion transport	Any process that activates or increases the frequency, rate or extent of the directed movement of calcium ions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.
positive regulation of cytosolic calcium ion concentration	Any process that increases the concentration of calcium ions in the cytosol.
positive regulation of ion transmembrane transporter activity	Any process that activates or increases the activity of an ion transporter.
regulation of cytosolic calcium ion concentration	Any process involved in the maintenance of an internal steady state of calcium ions within the cytosol of a cell or between the cytosol and its surroundings.
single fertilization	The union of male and female gametes to form a zygote.

20 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
O18784	TRPC1	Short transient receptor potential channel 1	Bos taurus (Bovine)	PR
P79100	TRPC4	Short transient receptor potential channel 4	Bos taurus (Bovine)	PR
P19334	trp	Transient receptor potential protein	Drosophila melanogaster (Fruit fly)	PR
P48994	trpl	Transient-receptor-potential-like protein	Drosophila melanogaster (Fruit fly)	PR
Q9HCX4	TRPC7	Short transient receptor potential channel 7	Homo sapiens (Human)	PR
Q13507	TRPC3	Short transient receptor potential channel 3	Homo sapiens (Human)	PR
P48995	TRPC1	Short transient receptor potential channel 1	Homo sapiens (Human)	PR
Q9UL62	TRPC5	Short transient receptor potential channel 5	Homo sapiens (Human)	PR
Q9UBN4	TRPC4	Short transient receptor potential channel 4	Homo sapiens (Human)	PR
Q9WVC5	Trpc7	Short transient receptor potential channel 7	Mus musculus (Mouse)	PR
Q9QZC1	Trpc3	Short transient receptor potential channel 3	Mus musculus (Mouse)	PR
Q9QUQ5	Trpc4	Short transient receptor potential channel 4	Mus musculus (Mouse)	PR
Q9QX29	Trpc5	Short transient receptor potential channel 5	Mus musculus (Mouse)	PR
Q9R244	Trpc2	Short transient receptor potential channel 2	Mus musculus (Mouse)	PR
Q61056	Trpc1	Short transient receptor potential channel 1	Mus musculus (Mouse)	PR
Q61143	Trpc6	Short transient receptor potential channel 6	Mus musculus (Mouse)	PR
Q9QX01	Trpc1	Short transient receptor potential channel 1	Rattus norvegicus (Rat)	PR
O35119	Trpc4	Short transient receptor potential channel 4	Rattus norvegicus (Rat)	PR
Q9JMI9	Trpc3	Short transient receptor potential channel 3	Rattus norvegicus (Rat)	PR
Q9R283	Trpc2	Short transient receptor potential channel 2	Rattus norvegicus (Rat)	PR

10	20	30	40	50	60
MSQSPAFGPR	RGSSPRGAAG	AAARRNESQD	YLLMDSELGE	DGCPQAPLPC	YGYYPCFRGS
70	80	90	100	110	120
DNRLAHRRQT	VLREKGRRLA	NRGPAYMFSD	RSTSLSIEEE	RFLDAAEYGN	IPVVRKMLEE
130	140	150	160	170	180
CHSLNVNCVD	YMGQNALQLA	VANEHLEITE	LLLKKENLSR	VGDALLLAIS	KGYVRIVEAI
190	200	210	220	230	240
LSHPAFAEGK	RLATSPSQSE	LQQDDFYAYD	EDGTRFSHDV	TPIILAAHCQ	EYEIVHTLLR
250	260	270	280	290	300
KGARIERPHD	YFCKCNDCNQ	KQKHDSFSHS	RSRINAYKGL	ASPAYLSLSS	EDPVMTALEL
310	320	330	340	350	360
SNELAVLANI	EKEFKNDYKK	LSMQCKDFVV	GLLDLCRNTE	EVEAILNGDV	ETLQSGDHGR
370	380	390	400	410	420
PNLSRLKLAI	KYEVKKFVAH	PNCQQQLLSI	WYENLSGLRQ	QTMAVKFLVV	LAVAIGLPFL
430	440	450	460	470	480
ALIYWFAPCS	KMGKIMRGPF	MKFVAHAASF	TIFLGLLVMN	AADRFEGTKL	LPNETSTDNA
490	500	510	520	530	540
KQLFRMKTSC	FSWMEMLIIS	WVIGMIWAEC	KEIWTQGPKE	YLFELWNMLD	FGMLAIFAAS
550	560	570	580	590	600
FIARFMAFWH	ASKAQSIIDA	NDTLKDLTKV	TLGDNVKYYN	LARIKWDPSD	PQIISEGLYA
610	620	630	640	650	660
IAVVLSFSRI	AYILPANESF	GPLQISLGRT	VKDIFKFMVI	FIMVFVAFMI	GMFNLYSYYI
670	680	690	700	710	720
GAKQNEAFTT	VEESFKTLFW	AIFGLSEVKS	VVINYNHKFI	ENIGYVLYGV	YNVTMVIVLL
730	740	750	760	770	780
NMLIAMINSS	FQEIEDDADV	EWKFARAKLW	FSYFEEGRTL	PVPFNLVPSP	KSLFYLLLKL
790	800	810	820	830	840
KKWISELFQG	HKKGFQEDAE	MNKINEEKKL	GILGSHEDLS	KLSLDKKQVG	HNKQPSIRSS
850	860	870	880	890	900
EDFHLNSFNN	PPRQYQKIMK	RLIKRYVLQA	QIDKESDEVN	EGELKEIKQD	ISSLRYELLE
910	920	930
EKSQNTEDLA	ELIRELGEKL	SMEPNQEETN	R