AiPD: Autoinhibited Protein Database

P06396

Gene name	GSN
Protein name	Gelsolin
Names	AGEL, Actin-depolymerizing factor, ADF, Brevin
Species	Homo sapiens (Human)
KEGG Pathway	hsa:2934
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-84 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-84 (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

59 structures for P06396

Entry ID	Method	Resolution	Chain	Position	Source
1C0F	X-ray	240 A	S	53-176	PDB
1C0G	X-ray	200 A	S	53-176	PDB
1D4X	X-ray	175 A	G	52-177	PDB
1DEJ	X-ray	240 A	S	53-176	PDB
1EQY	X-ray	230 A	S	52-176	PDB
1ESV	X-ray	200 A	S	52-176	PDB
1H1V	X-ray	300 A	G	439-769	PDB
1KCQ	X-ray	165 A	A	185-288	PDB
1MDU	X-ray	220 A	A/D	52-176	PDB
1NLV	X-ray	180 A	G	52-176	PDB
1NM1	X-ray	180 A	G	52-176	PDB
1NMD	X-ray	190 A	G	52-176	PDB
1P8X	X-ray	200 A	A/B/C	439-782	PDB
1P8Z	X-ray	260 A	G	52-187	PDB
1SOL	NMR	-	A	177-196	PDB
1T44	X-ray	200 A	G	55-179	PDB
1YAG	X-ray	190 A	G	52-176	PDB
1YVN	X-ray	210 A	G	52-176	PDB
2FF3	X-ray	200 A	A	52-179	PDB
2FF6	X-ray	205 A	G	52-179	PDB
2FH1	X-ray	155 A	A/B/C	439-782	PDB
2FH2	X-ray	250 A	A/B/C	439-782	PDB
2FH3	X-ray	287 A	A/B/C	439-782	PDB
2FH4	X-ray	300 A	A/B/C	439-782	PDB
3A5L	X-ray	240 A	S	53-176	PDB
3A5M	X-ray	240 A	S	53-176	PDB
3A5N	X-ray	236 A	S	53-176	PDB
3A5O	X-ray	240 A	S	53-176	PDB
3CI5	X-ray	170 A	G	52-176	PDB
3CIP	X-ray	160 A	G	52-176	PDB
3CJB	X-ray	321 A	G	52-176	PDB
3CJC	X-ray	390 A	G	52-176	PDB
3FFK	X-ray	300 A	A/D	52-426	PDB
3FFN	X-ray	300 A	A/B	1-782	PDB
3TU5	X-ray	300 A	B	53-174	PDB
4PKG	X-ray	180 A	G	52-176	PDB
4PKH	X-ray	215 A			PDB
4PKI	X-ray	230 A	G	52-176	PDB
4S10	X-ray	261 A	C/D	186-288	PDB
4Z94	X-ray	240 A	G	52-176	PDB
5FAE	X-ray	170 A	A	178-293	PDB
5FAF	X-ray	105 A	A	178-293	PDB
5H3M	NMR	-	A	55-187	PDB
5H3N	NMR	-	A	55-187	PDB
5O2Z	X-ray	170 A	A/B	178-293	PDB
5UBO	X-ray	239 A	S	52-178	PDB
5ZZ0	X-ray	263 A	A/G	55-188	PDB
6H1F	X-ray	190 A	B	178-293	PDB
6JCO	X-ray	288 A	A/B	56-782	PDB
6JEG	X-ray	298 A	A/B	54-782	PDB
6JEH	X-ray	295 A	A/B	56-782	PDB
6LJE	X-ray	140 A	A/B	297-397	PDB
6LJF	X-ray	150 A	A/B	297-397	PDB
6Q9R	X-ray	273 A	A/B	28-782	PDB
6Q9Z	X-ray	380 A	A/B	28-782	PDB
6QBF	X-ray	350 A	A/B	28-782	PDB
6QW3	X-ray	130 A	A	178-293	PDB
7P2B	X-ray	300 A	A/B	28-782	PDB
AF-P06396-F1	Predicted				AlphaFoldDB

724 variants for P06396

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV000723091 rs764841269 RCV002424740	4	H>missing	Inborn genetic diseases [ClinVar]	Yes	ClinVar dbSNP
RCV001567670 RCV000779569 rs1564468965	13	A>missing	Meretoja syndrome [ClinVar]	Yes	ClinVar dbSNP
rs1048849212 RCV001859097 CA199406388 RCV001169573	26	R>C	Meretoja syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
RCV001169575 rs2059919681	50	N>K	Meretoja syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV001859065 RCV001165599 CA5220738 rs138068754	54	V>L	Meretoja syndrome [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000365448 CA5220744 RCV000956748 rs115224458	61	K>R	Meretoja syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000330487 CA5220778 rs556563870	106	G>R	Meretoja syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA5220812 rs2230287 RCV000276675 VAR_024690 RCV001692064	129	A>T	Meretoja syndrome [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA5220824 rs146956976 RCV002328888 RCV000372173 RCV001865245	142	R>W	Meretoja syndrome Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001821111 RCV000957620 rs41305623 CA5220873 RCV000282194	179	V>M	Meretoja syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001873548 rs750132751 RCV001167187 CA5220887	194	G>R	Meretoja syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001167188 rs2061027102	198	V>A	Meretoja syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV000489240 rs121909715 CA250652 VAR_007718 RCV002362587 COSM1459755 RCV000017564 COSM1459756	214	D>N	large_intestine Variant assessed as Somatic; 4.62e-05 impact. Meretoja syndrome Inborn genetic diseases AMYL5; does not result in actin depolymerization in absence of calcium [Cosmic, NCI-TCGA, ClinVar, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt NCI-TCGA dbSNP gnomAD
CA250654 VAR_007719 rs121909715 RCV000017565	214	D>Y	Meretoja syndrome AMYL5 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt dbSNP gnomAD
RCV001167189 rs2061035565	221	G>A	Meretoja syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV001167190 rs11550199 RCV000961960 CA5220933 VAR_061982	231	N>D	Meretoja syndrome [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000318498 RCV002523731 CA5220934 rs752698745	233	N>K	Meretoja syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA5220935 rs371175865 RCV001167762 RCV002558654 RCV002365818	234	R>W	Meretoja syndrome Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA5221046 RCV000283584 rs745588757 RCV002523732 RCV002481255	312	V>I	Meretoja syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs2061970047 RCV001167766	356	K>R	Meretoja syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV001167767 CA199411994 rs1014328091	384	G>V	Meretoja syndrome [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV002523733 rs372681751 CA5221125 RCV002348120 RCV000343155	397	R>Q	Variant assessed as Somatic; 0.0 impact. Meretoja syndrome Inborn genetic diseases [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
CA5221158 RCV001879877 RCV002379957 RCV001254007 rs142034230	442	D>N	Meretoja syndrome Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA5221194 RCV000390100 rs140042418 RCV002379253 RCV003151049 RCV001729569	460	V>M	Meretoja syndrome Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA5221203 RCV002392924 RCV001821112 RCV000398476 rs116185403 RCV000882012	481	R>C	Meretoja syndrome Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs2062427908 RCV001265608	493	W>R	Meretoja syndrome [ClinVar]	Yes	ClinVar dbSNP
rs142828669 RCV002402079 CA5221247 RCV001850932 RCV000314461	525	R>H	Meretoja syndrome Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV002559587 rs766945413 RCV002393377 RCV001165663 CA5221248	526	V>L	Meretoja syndrome Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs139832048 RCV002402080 RCV002061312 RCV000369097 CA5221261	547	Y>C	Meretoja syndrome Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV003151050 rs58750568 RCV002061313 RCV000260878 CA5221273 RCV002402081	556	G>R	Meretoja syndrome Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs77681311 RCV000297409 CA5221281 RCV002058767	563	T>S	Meretoja syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs780840732 CA5221284 RCV001167255	567	Q>R	Meretoja syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs769400986 CA5221286 RCV000356817	569	R>H	Meretoja syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
CA5221288 RCV001531107 RCV002402082 RCV000262080 rs147554026	570	A>T	Meretoja syndrome Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000376344 RCV002523734 CA5221290 RCV002402084 rs528604896	577	R>Q	Meretoja syndrome Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs2063220897 RCV001196370	580	E>K	Meretoja syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV001167256 CA5221372 RCV001873550 rs777955781	602	A>T	Meretoja syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs2063344146 RCV001167257	604	L>V	Meretoja syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV001821113 rs151208452 RCV000267836 RCV000908629 RCV002411261 CA5221375	606	V>M	Meretoja syndrome Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001683444 rs76463933 CA5221385 RCV000322979	616	T>M	Meretoja syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001167841 RCV002067824 CA5221390 rs567372749 RCV002411660	627	A>G	Meretoja syndrome Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV000890782 RCV001167842 CA5221429 rs9696578 VAR_033958	668	R>L	Meretoja syndrome [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs777767455 RCV001167843 CA5221438	676	I>T	Meretoja syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs144434647 RCV000291668 RCV000891402 CA5221470 RCV002418218	695	T>M	Meretoja syndrome Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs886063406 RCV000346533 CA10632240	699	M>V	Meretoja syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
CA10632241 rs886063407 RCV000387049	719	E>K	Meretoja syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs142854368 RCV002068044 COSM1209125 COSM1209126 CA5221528 RCV002418599 RCV001169717	733	T>M	large_intestine Variant assessed as Somatic; 4.62e-05 impact. Meretoja syndrome Inborn genetic diseases [Cosmic, NCI-TCGA, ClinVar]	Yes	ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
CA5221533 RCV001169718 rs770023727 RCV002558691	738	R>Q	Meretoja syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
CA5221537 RCV001169719 RCV002559627 rs141510612 RCV001859099	741	R>Q	Meretoja syndrome Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA374751228 rs1235742549	2	A>T		No	ClinGen gnomAD
rs1184835172 CA374751299	3	P>L		No	ClinGen TOPMed
rs1184835172 CA374751306	3	P>R		No	ClinGen TOPMed
rs1463497694 CA374751325	4	H>P		No	ClinGen TOPMed
TCGA novel	5	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs749593959 CA374751369	5	R>H		No	ClinGen ExAC
rs749593959 CA5220647	5	R>L		No	ClinGen ExAC
rs1318468205 CA374751394	7	A>T		No	ClinGen TOPMed
CA374751408 rs1245547667	7	A>V		No	ClinGen TOPMed
rs564685016 CA199406379	8	P>L		No	ClinGen 1000Genomes TOPMed gnomAD
CA199406378 rs945394105	8	P>S		No	ClinGen TOPMed gnomAD
CA374751448 rs935992317	9	A>S		No	ClinGen TOPMed gnomAD
CA199406380 rs935992317	9	A>T		No	ClinGen TOPMed gnomAD
rs1490726666 CA374751453	9	A>V		No	ClinGen gnomAD
CA374751530 rs1199158051	12	C>G		No	ClinGen TOPMed gnomAD
rs939586966 CA199406382	13	A>V		No	ClinGen TOPMed gnomAD
CA374751627 rs1474343090	15	S>F		No	ClinGen gnomAD
CA374751611 rs1285468090	15	S>P		No	ClinGen TOPMed gnomAD
rs1474343090 CA374751624	15	S>Y		No	ClinGen gnomAD
rs1169568400 CA374751638	16	L>P		No	ClinGen gnomAD
rs1055331867 CA199406383	17	A>V		No	ClinGen TOPMed
rs1323274867 CA374751699	19	C>G		No	ClinGen TOPMed gnomAD
rs1306972736 CA374751700	19	C>Y		No	ClinGen TOPMed
CA374751738 rs1202263036	20	A>G		No	ClinGen TOPMed gnomAD
rs772098788 CA5220652	20	A>T		No	ClinGen ExAC gnomAD
rs1202263036 CA374751733	20	A>V		No	ClinGen TOPMed gnomAD
VAR_036337	22	S>L	a breast cancer sample; somatic mutation [UniProt]	No	UniProt
rs1462234420 CA374751942	26	R>L		No	ClinGen TOPMed gnomAD
rs900305697 CA199406389	29	T>I		No	ClinGen TOPMed gnomAD
CA199406391 rs1048939391	30	A>V		No	ClinGen TOPMed
CA199406392 rs528919299	32	R>W		No	ClinGen 1000Genomes
CA374752116 rs1203309936	35	S>F		No	ClinGen TOPMed
rs1210058398 CA374752224	38	G>R		No	ClinGen gnomAD
rs761582266 CA5220659	39	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1445044902 CA374752268	39	A>V		No	ClinGen gnomAD
CA5220660 rs764629393	40	P>L		No	ClinGen ExAC TOPMed gnomAD
rs749989175 CA5220661	41	Q>*		No	ClinGen ExAC TOPMed gnomAD
rs757935497 CA5220662	42	G>E		No	ClinGen ExAC TOPMed gnomAD
CA5220664 rs781621950	44	V>G		No	ClinGen ExAC gnomAD
CA5220665 rs753207938	45	P>A		No	ClinGen ExAC gnomAD
rs1384582534 CA374752446	45	P>L		No	ClinGen gnomAD
rs376281622 CA5220667	47	A>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA5220668 rs376281622	47	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA5220669 rs771227467	48	R>L		No	ClinGen ExAC TOPMed gnomAD
CA374752520 rs771227467	48	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA374752512 rs1366403896	48	R>W		No	ClinGen gnomAD
rs781185807 CA5220734	49	P>R		No	ClinGen ExAC
rs1429627213 CA374730619	49	P>S		No	ClinGen gnomAD
rs1367109054 CA374730634	50	N>S		No	ClinGen gnomAD
CA5220737 rs777717306	51	S>N		No	ClinGen ExAC gnomAD
CA374730660 rs1314373375	51	S>R		No	ClinGen gnomAD
rs770721652 CA5220739	56	H>N		No	ClinGen ExAC TOPMed gnomAD
CA5220740 rs778466648 CA374730791	56	H>Q		No	ClinGen ExAC gnomAD
rs770721652 CA374730767	56	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs745577813 CA5220741	57	P>H		No	ClinGen ExAC gnomAD
COSM1597937 CA5220743 rs143781307 COSM1104764	58	E>K	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed
CA374730892 rs1381677178	60	L>P		No	ClinGen TOPMed
TCGA novel	69	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5220748 rs773880178	70	I>S		No	ClinGen ExAC gnomAD
TCGA novel	71	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5220749 rs373791435	72	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA5220750 rs766916675	72	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1270868915 CA374731375	74	E>G		No	ClinGen gnomAD
RCV000880984 CA5220752 rs149415778	76	F>L		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA5220751 rs751817104	76	F>S		No	ClinGen ExAC gnomAD
rs752677417 CA374731491	77	D>H		No	ClinGen ExAC TOPMed gnomAD
rs752677417 CA5220754	77	D>N		No	ClinGen ExAC TOPMed gnomAD
rs752677417 CA5220755	77	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs777625727 COSM3721993 CA5220756 COSM3721991	78	L>M	upper_aerodigestive_tract Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1487723595 CA374731551	78	L>P		No	ClinGen TOPMed
rs149556868 CA199406939	80	P>L		No	ClinGen ESP TOPMed gnomAD
CA5220759 rs778740783	81	V>E		No	ClinGen ExAC TOPMed gnomAD
CA374731676 rs778740783	81	V>G		No	ClinGen ExAC TOPMed gnomAD
CA199406941 rs376961112	81	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA TOPMed gnomAD
CA374731713 rs1588955024	83	T>P		No	ClinGen Ensembl
rs758028847 CA5220761	84	N>S		No	ClinGen ExAC TOPMed gnomAD
rs746456127 CA5220763	85	L>I		No	ClinGen ExAC gnomAD
CA5220764 rs144219139	88	D>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs144219139 CA374731853	88	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA5220766 rs749868096	91	T>M		No	ClinGen ExAC gnomAD
rs1164365786 CA374732104	93	D>G		No	ClinGen TOPMed
rs759975420 CA5220769	93	D>N		No	ClinGen ExAC TOPMed gnomAD
rs148748121 CA5220771	94	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA374732125 rs148748121	94	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1472775852 CA374732152	94	A>V		No	ClinGen gnomAD
rs1175400045 CA374732155	95	Y>H		No	ClinGen gnomAD
rs1399829665 CA374732159	95	Y>S		No	ClinGen gnomAD
CA5220773 rs142305374	96	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1359811866 CA374732198	97	I>V		No	ClinGen gnomAD
rs1409351649 CA374732236	98	L>Q		No	ClinGen gnomAD
rs1409351649 CA374732240	98	L>R		No	ClinGen gnomAD
CA5220774 rs753766003	99	K>R		No	ClinGen ExAC gnomAD
rs1229267148 CA374732298	102	Q>*		No	ClinGen gnomAD
CA5220776 rs764988664	104	R>G		No	ClinGen ExAC TOPMed gnomAD
rs1358284064 CA374732398	107	N>S		No	ClinGen gnomAD
rs1202456111 CA374732430	109	Q>*		No	ClinGen gnomAD
CA374732454 rs1483153444	110	Y>C		No	ClinGen TOPMed gnomAD
rs779516701 CA5220779	110	Y>H		No	ClinGen ExAC gnomAD
CA5220781 rs754531071	113	H>Y		No	ClinGen ExAC gnomAD
CA374732690 rs1564481095	116	L>R		No	ClinGen Ensembl
CA374733169 rs373229223	118	N>K		No	ClinGen ESP TOPMed
CA5220801 rs755696871	119	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA
rs779217957 CA5220802	119	E>D		No	ClinGen ExAC gnomAD
TCGA novel	120	C>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA374733372 rs1352951650	122	Q>R		No	ClinGen TOPMed
CA5220805 rs369305328	126	G>R		No	ClinGen ESP ExAC gnomAD
rs369305328 CA374733623	126	G>W		No	ClinGen ESP ExAC gnomAD
RCV000969559 CA5220808 RCV000610660 rs79630438	127	A>V		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1588966254 CA374733740	129	A>V		No	ClinGen Ensembl
rs766055612 CA5220813	130	I>L		No	ClinGen ExAC TOPMed gnomAD
CA5220814 rs145441439	132	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA374733842 rs1291179077	132	T>I		No	ClinGen TOPMed
CA5220817 rs752400851	133	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA374733923 rs1190417217	135	L>P		No	ClinGen gnomAD
rs1418730040 CA374733927	136	D>N		No	ClinGen Ensembl
CA5220818 rs755676763	136	D>V		No	ClinGen ExAC TOPMed gnomAD
CA199407154 rs965919012	140	N>K		No	ClinGen TOPMed gnomAD
CA5220819 rs777396943	140	N>S		No	ClinGen ExAC gnomAD
rs750877079 CA5220822	141	G>S		No	ClinGen ExAC TOPMed gnomAD
CA5220823 rs758988443	141	G>V		No	ClinGen ExAC TOPMed gnomAD
CA5220826 rs138153246	142	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA5220825 rs138153246	142	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA374734070 rs1487454769	143	A>T		No	ClinGen TOPMed
rs760357425 CA5220829	144	V>L		No	ClinGen ExAC TOPMed gnomAD
rs760357425 CA5220828	144	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1330955642 CA374734187	146	H>Y		No	ClinGen TOPMed gnomAD
rs201920706 CA5220831	147	R>H		No	ClinGen ExAC gnomAD
rs866179533 CA199407163	147	R>S		No	ClinGen Ensembl
CA374734253 rs1327109872	148	E>A		No	ClinGen TOPMed
CA5220832 rs770851113	148	E>D		No	ClinGen ExAC TOPMed gnomAD
rs1341747390 CA374734299	149	V>A		No	ClinGen gnomAD
CA374734343 rs1564486321	151	G>A		No	ClinGen Ensembl
rs1245060312 CA374734324	151	G>S		No	ClinGen gnomAD
rs759334030 CA5220834	153	E>G		No	ClinGen ExAC gnomAD
rs895304313 CA199407167	153	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA5220835 rs767484600	154	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA374734465 rs865879074	155	A>S		No	ClinGen Ensembl
CA199407171 rs865879074	155	A>T		No	ClinGen Ensembl
rs1482856276 CA374734475	156	T>P		No	ClinGen gnomAD
CA374734565 rs1588968072	158	L>Q		No	ClinGen Ensembl
rs367933536 CA5220837	159	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs903705821 CA199407174	161	F>L		No	ClinGen TOPMed
rs1254094633 CA374734757	163	S>F		No	ClinGen gnomAD
CA5220838 rs763484567	164	G>V		No	ClinGen ExAC gnomAD
TCGA novel	165	L>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs753352592 CA374734785	165	L>M		No	ClinGen ExAC TOPMed gnomAD
CA5220839 rs753352592	165	L>V		No	ClinGen ExAC TOPMed gnomAD
CA199407177 rs1000625882	168	K>E		No	ClinGen TOPMed
CA374738633 rs1255341820	171	G>D		No	ClinGen TOPMed
CA374738630 rs1273939404	171	G>S		No	ClinGen gnomAD
TCGA novel	173	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs951335049 CA199408663	173	A>V		No	ClinGen Ensembl
CA374738695 rs1211363476	175	G>E		No	ClinGen TOPMed
rs1589047561 CA374738741	177	K>N		No	ClinGen Ensembl
CA374738755 rs1404581758	178	H>L		No	ClinGen gnomAD
rs772098646 CA5220871	178	H>Y		No	ClinGen ExAC gnomAD
CA199408668 rs41305623	179	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5220876 rs761433282	181	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs186654124 CA5220878	182	N>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1188488372 CA374738811	182	N>S		No	ClinGen gnomAD
CA5220879 rs762471492	183	E>K		No	ClinGen ExAC gnomAD
rs368197143 CA5220881	184	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
COSM4148855 rs368197143 CA5220880 COSM4148853	184	V>M	pancreas [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs1348987724 CA374738865	185	V>G		No	ClinGen gnomAD
rs1479110297 CA374738855	185	V>L		No	ClinGen Ensembl
CA374738867 rs1456094623	186	V>L		No	ClinGen gnomAD
rs761093581 CA5220882	188	R>I		No	ClinGen ExAC TOPMed gnomAD
rs1035757795 CA199408677	189	L>I		No	ClinGen Ensembl
CA374738937 rs1338898955	190	F>L		No	ClinGen TOPMed
rs764421030 CA5220883	190	F>L		No	ClinGen ExAC gnomAD
rs754064038 CA5220884	191	Q>*		No	ClinGen ExAC gnomAD
rs144099356 CA5220890	195	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA199408687 rs138951454	195	R>W		No	ClinGen ESP ExAC gnomAD
rs1246783224 CA374739038	196	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA5220891 rs141314418	196	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA374739044 rs141314418	196	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5220892 rs141314418	196	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs958814554 CA199408691	197	V>M		No	ClinGen TOPMed gnomAD
CA5220893 rs747805751	199	R>C		No	ClinGen ExAC gnomAD
rs150617780 CA5220894	199	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
VAR_036338	201	T>I	a breast cancer sample; somatic mutation [UniProt]	No	UniProt
CA374739141 rs772864569	202	E>D		No	ClinGen ExAC TOPMed gnomAD
CA374739128 rs1260779243	202	E>K		No	ClinGen TOPMed
rs1321392168 CA374739150	203	V>L		No	ClinGen TOPMed gnomAD
CA374739176 rs1564516294	205	V>M		No	ClinGen Ensembl
rs770494341 CA374739225	211	N>S		No	ClinGen ExAC TOPMed gnomAD
rs770494341 CA5220897	211	N>T		No	ClinGen ExAC TOPMed gnomAD
rs1355688870 CA374739236	213	G>S		No	ClinGen TOPMed
rs764485751 CA5220900	218	L>P		No	ClinGen ExAC
CA5220901 rs754109131	219	D>E		No	ClinGen ExAC gnomAD
CA5220902 rs762294366	222	N>S		No	ClinGen ExAC gnomAD
rs1309900188 CA374740141	224	I>F		No	ClinGen gnomAD
CA374740136 rs1309900188	224	I>V		No	ClinGen gnomAD
CA5220931 rs751554478	225	H>D		No	ClinGen ExAC gnomAD
CA199409038 rs1016283058	226	Q>R		No	ClinGen Ensembl
CA199409040 rs772654323	227	W>*		No	ClinGen Ensembl
rs1426401845 CA374740471	231	N>S		No	ClinGen TOPMed
rs375589943 CA374740551	234	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs375589943 CA5220936	234	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1423027604 CA374740567	235	Y>C		No	ClinGen gnomAD
CA374740667 rs1416138918	240	A>S		No	ClinGen TOPMed gnomAD
CA374740693 rs1175548472	241	T>R		No	ClinGen gnomAD
CA5220938 rs756817108	243	V>L		No	ClinGen ExAC gnomAD
rs533077767 CA5220939	245	K>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA374740815 rs1443435223	247	I>V		No	ClinGen TOPMed gnomAD
CA5220940 rs745312507	248	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA5220942 rs777277538	251	E>K		No	ClinGen ExAC gnomAD
rs774085705 CA5220943	252	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1014829124 CA199409052	252	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1202569303 CA374740945	253	S>G		No	ClinGen gnomAD
rs770261155 CA5220944	253	S>N		No	ClinGen ExAC gnomAD
rs766464271 CA5220947	255	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs763444610 CA5220946	255	R>W		No	ClinGen ExAC gnomAD
CA5220948 rs774635796	256	A>T		No	ClinGen ExAC gnomAD
rs376060588 CA5220949	257	R>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA5220950 rs767693759	257	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs752607226 CA5220951	259	H>Y		No	ClinGen ExAC
CA5220954 rs753578683	260	V>A		No	ClinGen ExAC gnomAD
CA5220953 rs570834330	260	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA374740995 rs1261678254	262	E>A		No	ClinGen TOPMed gnomAD
rs369788495 CA5220955 RCV000903292	262	E>Q		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs371320840 CA5220957	264	G>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA374741055 rs1304879848	265	T>I		No	ClinGen TOPMed gnomAD
CA374741053 rs1304879848	265	T>N		No	ClinGen TOPMed gnomAD
CA374741076 rs1564524204	267	P>S		No	ClinGen Ensembl
CA5220959 rs779759717	268	E>D		No	ClinGen ExAC gnomAD
CA5220958 rs757836648	268	E>K		No	ClinGen ExAC gnomAD
rs748635328 CA5220960	269	A>V		No	ClinGen ExAC TOPMed gnomAD
rs923896672 CA199409073	270	M>I		No	ClinGen TOPMed gnomAD
CA5220962 rs773878610	271	L>I		No	ClinGen ExAC gnomAD
CA5220963 rs374011467	271	L>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA374742439 rs1351451024	275	G>D		No	ClinGen gnomAD
rs1486745626 CA374742457	276	P>L		No	ClinGen gnomAD
rs766073307 CA5220993	276	P>S		No	ClinGen ExAC TOPMed gnomAD
CA199409352 rs202067009	278	P>L		No	ClinGen 1000Genomes gnomAD
CA374742483 rs1390359509	278	P>T		No	ClinGen TOPMed
rs1161887525 CA374742501	279	A>T		No	ClinGen gnomAD
rs139723535 CA199409359	281	P>L		No	ClinGen ESP TOPMed
CA5220996 rs780898402	282	A>S		No	ClinGen ExAC gnomAD
CA5220997 rs754268709	282	A>V		No	ClinGen ExAC gnomAD
rs1376747926 CA374742529	284	T>A		No	ClinGen gnomAD
CA374742533 rs1434943560	284	T>I		No	ClinGen gnomAD
COSM1554044 rs779305948 COSM1554043 CA5220999	285	E>K	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1197270565 CA374742541	286	D>N		No	ClinGen TOPMed
rs376744130 CA5221001	288	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA5221002 rs780252276	288	A>V		No	ClinGen ExAC TOPMed gnomAD
CA5221003 rs747292895	289	K>M		No	ClinGen ExAC gnomAD
rs1490724180 CA374742570	290	E>G		No	ClinGen TOPMed
rs768703573 CA5221004	291	D>Y		No	ClinGen ExAC gnomAD
rs144375242 CA5221007	292	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA5221005 rs150568054	292	A>S		No	ClinGen 1000Genomes ExAC gnomAD
rs150568054 CA374742581	292	A>T		No	ClinGen 1000Genomes ExAC gnomAD
rs144375242 CA5221006	292	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
COSM1459758 rs1479845895 COSM1459757 CA374742588	293	A>V	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA5221009 rs188214536	295	R>C		No	ClinGen 1000Genomes ExAC gnomAD
rs766602997 CA5221011	295	R>H		No	ClinGen ExAC TOPMed gnomAD
rs766602997 CA5221010	295	R>L		No	ClinGen ExAC TOPMed gnomAD
CA374742614 rs752197819	298	A>S		No	ClinGen ExAC gnomAD
CA5221014 rs752197819	298	A>T		No	ClinGen ExAC gnomAD
rs1167536004 CA374742620	299	K>E		No	ClinGen gnomAD
rs765705498 CA5221016	299	K>N		No	ClinGen ExAC gnomAD
CA374742623 rs1368917811	299	K>R		No	ClinGen TOPMed
rs758752620 CA5221018	301	Y>C		No	ClinGen ExAC gnomAD
CA5221017 rs750961577	301	Y>H		No	ClinGen ExAC gnomAD
CA5221019 rs780450190	302	K>Q		No	ClinGen ExAC TOPMed gnomAD
CA5221020 rs148800857	302	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs148800857 CA374742640	302	K>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs113759985 CA199409909	303	V>I		No	ClinGen Ensembl
CA5221039 rs781410046	304	S>F		No	ClinGen ExAC gnomAD
rs756193920 CA5221041	305	N>S		No	ClinGen ExAC TOPMed gnomAD
rs748387609 CA5221040	305	N>Y		No	ClinGen ExAC gnomAD
rs777753023 CA5221042	306	G>D		No	ClinGen ExAC gnomAD
rs867786838 CA199409915	307	A>G		No	ClinGen TOPMed
CA374742933 rs1418309924	307	A>T		No	ClinGen gnomAD
rs770943559 CA5221044	310	M>T		No	ClinGen ExAC TOPMed gnomAD
CA374743045 rs1156902746	310	M>V		No	ClinGen gnomAD
rs1433029387 CA374743100	311	S>F		No	ClinGen TOPMed gnomAD
CA374743156 rs1381551968	313	S>C		No	ClinGen TOPMed gnomAD
TCGA novel	313	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1336006305 CA374743184	315	V>M		No	ClinGen TOPMed gnomAD
CA5221049 rs760297403	316	A>T		No	ClinGen ExAC gnomAD
rs768184900 CA5221050	320	P>S		No	ClinGen ExAC gnomAD
CA5221052 rs761334580	322	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1589117317 CA374743528	324	G>A		No	ClinGen Ensembl
rs766813999 CA5221053	324	G>R		No	ClinGen ExAC gnomAD
rs766813999 CA374743523	324	G>W		No	ClinGen ExAC gnomAD
rs1189708434 CA374743534	325	A>S		No	ClinGen gnomAD
CA374743531 rs1189708434	325	A>T		No	ClinGen gnomAD
CA374743609 rs1211183624	327	K>N		No	ClinGen gnomAD
CA374743598 rs1315500359	327	K>R		No	ClinGen TOPMed gnomAD
CA5221054 rs752067290	328	S>P		No	ClinGen ExAC gnomAD
CA5221056 rs767818971	329	E>D		No	ClinGen ExAC gnomAD
CA5221057 rs752931457	330	D>E		No	ClinGen ExAC gnomAD
rs142435036 CA199409930	332	F>L		No	ClinGen ESP TOPMed
CA5221058 rs756249390	333	I>M		No	ClinGen ExAC TOPMed gnomAD
rs1257832427 CA374743793	335	D>Y		No	ClinGen TOPMed
rs1053679845 CA199409933	336	H>Y		No	ClinGen TOPMed gnomAD
rs151155909 CA5221061	337	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA374743901 rs1589118051	338	K>R		No	ClinGen Ensembl
CA374743918 rs1464985912	339	D>H		No	ClinGen TOPMed gnomAD
CA374743921 rs1464985912	339	D>Y		No	ClinGen TOPMed gnomAD
CA374744039 rs1357160738	343	F>S		No	ClinGen TOPMed
rs745847678 CA5221063	345	W>*		No	ClinGen ExAC gnomAD
rs771881247 CA5221064	345	W>C		No	ClinGen ExAC gnomAD
rs779756580 CA374744234	346	K>N		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	347	G>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1210206008 CA374745347	348	K>N		No	ClinGen TOPMed
rs1469592806 CA374745448	352	T>M		No	ClinGen TOPMed
TCGA novel	354	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA374745495 rs1193720408	354	E>K		No	ClinGen gnomAD
rs1318739041 CA374745648	359	L>V		No	ClinGen TOPMed
CA374745673 rs1589128597	360	K>*		No	ClinGen Ensembl
CA374745719 rs1280142330	361	T>I		No	ClinGen TOPMed
CA5221091 rs776069055	361	T>P		No	ClinGen ExAC gnomAD
rs760942439 CA5221092	362	A>S		No	ClinGen ExAC gnomAD
rs1195531709 CA374745731	362	A>V		No	ClinGen gnomAD
rs1475171830 CA374745752	363	S>C		No	ClinGen gnomAD
CA199411940 rs139028645	367	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA5221093 rs139028645	367	T>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs1589128937 CA374745856	367	T>S		No	ClinGen Ensembl
CA374745889 rs1302495551	368	K>N		No	ClinGen TOPMed
rs1589129073 CA374745959	370	D>E		No	ClinGen Ensembl
rs776968977 CA5221094	373	K>E		No	ClinGen ExAC gnomAD
CA5221095 rs762168001	373	K>R		No	ClinGen ExAC TOPMed gnomAD
rs925879761 CA374746088	374	Q>P		No	ClinGen TOPMed
rs925879761 CA199411943	374	Q>R		No	ClinGen TOPMed
CA199411983 rs922617464	378	S>*		No	ClinGen TOPMed gnomAD
CA374746368 rs922617464	378	S>L		No	ClinGen TOPMed gnomAD
CA374746393 rs1413806267	379	V>L		No	ClinGen gnomAD
rs1157815026 CA374746482	381	P>L		No	ClinGen TOPMed
CA199411988 rs897244135	381	P>S		No	ClinGen TOPMed
CA5221116 rs773492890	382	E>K		No	ClinGen ExAC gnomAD
CA374746556 rs1233798637	383	G>V		No	ClinGen TOPMed gnomAD
rs751431867 CA374746591	384	G>C		No	ClinGen ExAC TOPMed gnomAD
rs751431867 CA5221119	384	G>S		No	ClinGen ExAC TOPMed gnomAD
CA374746619 rs1286444385	385	E>A		No	ClinGen gnomAD
CA5221120 rs759427135	386	T>S		No	ClinGen ExAC TOPMed gnomAD
CA199411996 rs866780606	388	L>P		No	ClinGen Ensembl
CA374746891 rs1564550129	394	K>E		No	ClinGen Ensembl
CA374746928 rs1213702142	394	K>N		No	ClinGen TOPMed
CA374746953 rs1476420188	395	N>I		No	ClinGen gnomAD
CA374746948 rs1476420188	395	N>S		No	ClinGen gnomAD
rs372681751 CA5221124	397	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA5221123 rs755904287 COSM3745808 COSM3745810	397	R>W	liver [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs756698562 CA374747050	398	D>A		No	ClinGen ExAC gnomAD
rs756698562 CA5221126	398	D>G		No	ClinGen ExAC gnomAD
CA374747040 rs1159740643	398	D>N		No	ClinGen gnomAD
CA5221128 rs367632035	400	D>E		No	ClinGen ExAC gnomAD
rs769238518 CA5221129	401	Q>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	402	T>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5221130 rs781768258	402	T>R		No	ClinGen ExAC TOPMed gnomAD
rs748457545 CA5221131	403	D>E		No	ClinGen ExAC gnomAD
CA5221132 rs770264538	404	G>V		No	ClinGen ExAC gnomAD
CA374747367 rs1589132408	405	L>P		No	ClinGen Ensembl
rs1170736480 CA374747390	406	G>D		No	ClinGen gnomAD
CA5221133 rs773296433	407	L>F		No	ClinGen ExAC
CA374747434 rs1589132580	408	S>A		No	ClinGen Ensembl
CA374747449 rs1589132623	408	S>C		No	ClinGen Ensembl
CA374747436 rs1589132580	408	S>T		No	ClinGen Ensembl
rs763288677 CA5221134	409	Y>S		No	ClinGen ExAC
CA5221135 rs770887416	410	L>F		No	ClinGen ExAC
CA5221136 rs75508371	411	S>P		No	ClinGen ExAC gnomAD
CA199412018 rs370764119	412	S>N		No	ClinGen ESP TOPMed gnomAD
CA374747620 rs1032894158	413	H>L		No	ClinGen TOPMed
CA199412021 rs1032894158	413	H>R		No	ClinGen TOPMed
CA5221140 rs747287341	414	I>M		No	ClinGen ExAC TOPMed gnomAD
rs1278510076 CA374747636	414	I>S		No	ClinGen gnomAD
rs1415084790 CA374747627	414	I>V		No	ClinGen gnomAD
CA374747646 rs1368901887	415	A>G		No	ClinGen gnomAD
rs763998109 CA5221142	415	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs753400828 CA199412026	416	N>K		No	ClinGen ExAC TOPMed gnomAD
rs375323203 CA5221144	417	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA5221148 rs781764487	419	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs757987371 CA5221147	419	R>W		No	ClinGen ExAC TOPMed gnomAD
CA374747689 rs1376840693	421	P>L		No	ClinGen gnomAD
CA5221149 rs200018246	423	D>N		No	ClinGen 1000Genomes ExAC gnomAD
rs1377703104 CA374747708	424	A>D		No	ClinGen TOPMed gnomAD
COSM1209124 CA374747705 rs1307675236 COSM1209123	424	A>T	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
CA374747712 rs1301367568	425	A>T		No	ClinGen gnomAD
rs1589133701 CA374747717	426	T>P		No	ClinGen Ensembl
rs1589133789 CA374747736	429	T>P		No	ClinGen Ensembl
CA374747747 rs1234250509	430	S>F		No	ClinGen gnomAD
rs376180600 CA5221152	433	M>V		No	ClinGen ESP ExAC
TCGA novel	435	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs774557384 CA5221154	436	Q>*		No	ClinGen ExAC gnomAD
CA199412042 rs910097928	436	Q>H		No	ClinGen Ensembl
rs1263115622 CA374747833	437	H>R		No	ClinGen TOPMed
TCGA novel	438	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs372218880 CA5221156	438	G>S		No	ClinGen ExAC TOPMed gnomAD
CA374747931 rs1239273199	439	M>I		No	ClinGen gnomAD
rs147583697 CA374748019	441	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs1564552641 CA374748043	442	D>G		No	ClinGen Ensembl
CA5221159 rs142034230	442	D>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA5221160 rs376488491	445	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1169376046 CA374748131	446	Q>H		No	ClinGen gnomAD
rs368537807 CA5221162	448	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA5221188 rs754356800	449	I>V		No	ClinGen ExAC
CA374749343 rs1355287098	450	W>*		No	ClinGen gnomAD
rs1231970638 CA374749396	452	I>T		No	ClinGen gnomAD
rs1167869287 CA374749387	452	I>V		No	ClinGen TOPMed
rs368079865 CA5221190	453	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA5221191 rs746261304	456	N>S		No	ClinGen ExAC TOPMed gnomAD
rs891734906 CA199412789	458	V>M		No	ClinGen TOPMed gnomAD
rs1256527346 CA374749556	459	P>L		No	ClinGen gnomAD
COSM1193481 COSM1193482 CA374749553 rs1256527346	459	P>R	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
CA374749545 rs1564563931	459	P>S		No	ClinGen Ensembl
rs140042418 CA5221195	460	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1589156673 CA374749615	461	D>A		No	ClinGen Ensembl
rs1400051321 CA374749651	462	P>L		No	ClinGen gnomAD
rs776618806 CA5221196	462	P>S		No	ClinGen ExAC gnomAD
rs914956728 CA199412800	463	A>D		No	ClinGen Ensembl
rs1249750610 CA374749707	465	Y>H		No	ClinGen TOPMed
rs1421738271 CA374749745	467	Q>*		No	ClinGen gnomAD
CA374749772 COSM368230 rs1299082302 CA374749773	468	F>L	lung [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA5221198 rs375227932	469	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA5221201 rs762866677	472	D>N		No	ClinGen ExAC gnomAD
CA5221202 rs770637286	473	S>N		No	ClinGen ExAC gnomAD
CA374749896 rs1318264424	474	Y>C		No	ClinGen gnomAD
rs1564564688 CA374749888	474	Y>H		No	ClinGen Ensembl
rs1368620778 CA374749957	479	N>D		No	ClinGen TOPMed
rs759068282 CA5221204	481	R>H		No	ClinGen ExAC gnomAD
CA374749987 rs116185403	481	R>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs148309276 CA374750019	483	G>A		No	ClinGen ESP ExAC gnomAD
CA5221205 rs148309276	483	G>D		No	ClinGen ESP ExAC gnomAD
CA199412816 rs368923816	485	R>C		No	ClinGen ESP TOPMed gnomAD
CA374750050 rs1469557211	485	R>H		No	ClinGen TOPMed gnomAD
rs1469557211 CA374750047	485	R>L		No	ClinGen TOPMed gnomAD
rs1428666233 CA374750076	487	G>R		No	ClinGen TOPMed
rs1405855644 CA374750094	488	Q>K		No	ClinGen TOPMed gnomAD
CA374750114 rs1433255271	489	I>V		No	ClinGen TOPMed
rs1051993391 CA199412825	491	Y>C		No	ClinGen Ensembl
CA374750184 rs1377489093	492	N>K		No	ClinGen TOPMed
rs1554821138 RCV000585506	493	W>missing		No	ClinVar dbSNP
CA199413719 rs897058765	493	W>*		No	ClinGen gnomAD
rs1403028783 CA374751808	496	A>V		No	ClinGen gnomAD
CA199413721 rs759150461	497	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA374751854 rs1360884907	497	Q>R		No	ClinGen TOPMed
CA5221223 rs576601788	499	T>A		No	ClinGen 1000Genomes ExAC gnomAD
rs141406100 CA5221224	501	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs753446615 CA199413727	501	D>G		No	ClinGen Ensembl
TCGA novel	502	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM1597934 rs760189867 COSM1104769 CA5221225	504	A>T	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA374752152 rs1212537433	506	S>F		No	ClinGen gnomAD
CA199413735 rs1024248414	509	L>V		No	ClinGen gnomAD
CA374752194 rs1252438083	510	T>A		No	ClinGen gnomAD
CA374752219 rs1467236913	510	T>S		No	ClinGen TOPMed gnomAD
CA374752240 rs1201243869	511	A>V		No	ClinGen TOPMed gnomAD
rs1242355446 CA374752252	512	Q>R		No	ClinGen TOPMed gnomAD
rs1475224120 CA374752306	514	D>G		No	ClinGen gnomAD
rs1247472167 CA374752298	514	D>Y		No	ClinGen gnomAD
rs1185072507 CA374752353	515	E>D		No	ClinGen gnomAD
CA891862808 RCV000723078 rs1564578803	515	E>Y		No	ClinGen ClinVar Ensembl dbSNP
rs145721476 CA199413740	518	G>R		No	ClinGen ESP TOPMed gnomAD
rs866830834 CA199413743	519	G>S		No	ClinGen Ensembl
rs1164890169 CA374752441	520	T>P		No	ClinGen gnomAD
CA374752522 rs868596277	523	Q>L		No	ClinGen TOPMed
CA199413744 rs868596277	523	Q>R		No	ClinGen TOPMed
rs370997492 CA5221245	524	S>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs138341672 CA5221246	525	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA374753776 COSM607488 rs1255853000 COSM1145200	526	V>A	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
rs766945413 CA374753764	526	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1444630911 CA374753806	528	Q>P		No	ClinGen gnomAD
rs774534165 CA5221249	529	G>D		No	ClinGen ExAC TOPMed gnomAD
CA5221250 rs774534165	529	G>V		No	ClinGen ExAC TOPMed gnomAD
rs539994421 CA199414351	530	K>R		No	ClinGen 1000Genomes
rs1468193571 CA374753904	532	P>T		No	ClinGen gnomAD
CA5221253 rs375902120	533	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA5221254 rs764305490	536	M>I		No	ClinGen ExAC gnomAD
CA374754142 rs1404151409	538	L>R		No	ClinGen gnomAD
CA5221255 rs754001558	540	G>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs146125870 CA199414357	540	G>R		No	ClinGen ESP TOPMed gnomAD
CA374754189 rs146125870	540	G>S		No	ClinGen ESP TOPMed gnomAD
rs1564588065 CA374754289	543	P>S		No	ClinGen Ensembl
CA5221258 rs757093131	544	M>L		No	ClinGen ExAC TOPMed gnomAD
CA5221259 rs778921459	546	I>T		No	ClinGen ExAC gnomAD
rs779561679 CA5221262	549	G>C		No	ClinGen ExAC gnomAD
COSM1104770 COSM1155063 CA374754501 rs776082855	550	G>D	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs768124486 CA5221264	550	G>S		No	ClinGen ExAC TOPMed gnomAD
rs776082855 CA5221265	550	G>V		No	ClinGen ExAC gnomAD
CA374754516 rs1589217752 COSM4152026 COSM4152024	551	T>P	ovary [Cosmic]	No	ClinGen cosmic curated Ensembl
CA5221267 rs544227689	553	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5221269 rs771287868	553	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs771287868 CA5221268	553	R>L		No	ClinGen ExAC gnomAD
rs544227689 CA374754546	553	R>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1331062884 CA374754584	554	E>D		No	ClinGen TOPMed gnomAD
rs998869731 CA199414377	554	E>K		No	ClinGen TOPMed gnomAD
CA5221271 rs767972089	555	G>S		No	ClinGen ExAC gnomAD
rs890249849 CA199414384	557	Q>R		No	ClinGen Ensembl
CA374754641 rs1475977136	558	T>I		No	ClinGen TOPMed
CA374754644 rs1375261642	559	A>P		No	ClinGen TOPMed
rs1375261642 CA374754643	559	A>T		No	ClinGen TOPMed
rs1564589327 CA374754657	560	P>L		No	ClinGen Ensembl
rs1432630136 CA374754653	560	P>S		No	ClinGen TOPMed
CA5221277 rs757360429	561	A>D		No	ClinGen ExAC gnomAD
CA5221278 rs765080819	562	S>T		No	ClinGen ExAC gnomAD
CA5221279 rs750434657	563	T>A		No	ClinGen ExAC gnomAD
CA5221280 rs750434657	563	T>P		No	ClinGen ExAC gnomAD
CA5221282 rs746839611	564	R>C		No	ClinGen ExAC TOPMed gnomAD
CA5221283 rs148410442	564	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA374754798 rs1268976636	567	Q>*		No	ClinGen gnomAD
rs747549477 CA5221285	567	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs1371185672 CA374754851	569	R>C		No	ClinGen gnomAD
CA374754909 rs1460940265	570	A>V		No	ClinGen gnomAD
rs1291889856 CA374754921	571	N>S		No	ClinGen gnomAD
CA374754942 rs1170483452	572	S>G		No	ClinGen Ensembl
rs1387577221 CA374755000	573	A>S		No	ClinGen TOPMed gnomAD
rs1387577221 CA374754995	573	A>T		No	ClinGen TOPMed gnomAD
CA199414411 rs950375539	574	G>A		No	ClinGen TOPMed
rs1295283907 CA374755025	574	G>R		No	ClinGen gnomAD
CA5221291 rs528604896	577	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1220983184 CA374755115	577	R>W		No	ClinGen TOPMed gnomAD
rs1334804023 CA374755131	578	A>T		No	ClinGen gnomAD
rs1564590725 CA374755193	579	V>D		No	ClinGen Ensembl
rs768932104 CA5221292	579	V>I		No	ClinGen ExAC gnomAD
rs1299811917 CA374755538	581	V>I		No	ClinGen TOPMed gnomAD
CA374755547 rs1589226696	582	L>M		No	ClinGen Ensembl
CA5221362 rs371993530	583	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA374755595 rs1283666554	585	A>V		No	ClinGen gnomAD
rs1230214570 CA374755604	586	G>D		No	ClinGen TOPMed gnomAD
CA5221366 rs761517749	591	N>K		No	ClinGen ExAC gnomAD
rs776392493 CA5221364	591	N>S		No	ClinGen ExAC gnomAD
rs749896585 CA5221367	592	D>N		No	ClinGen ExAC TOPMed gnomAD
CA374755697 rs1488902911	593	A>G		No	ClinGen TOPMed gnomAD
CA374755699 rs1488902911	593	A>V		No	ClinGen TOPMed gnomAD
rs1187511879 CA374755730	596	L>V		No	ClinGen gnomAD
rs1473465931 CA374755741	597	K>E		No	ClinGen gnomAD
rs184844415 CA5221368	597	K>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5221369 rs376326631	598	T>I		No	ClinGen ExAC TOPMed gnomAD
rs1589227248 CA374755753	598	T>P		No	ClinGen Ensembl
CA374755771 rs1417499787	599	P>H		No	ClinGen gnomAD
rs201307081 CA5221370	600	S>L		No	ClinGen ExAC gnomAD
TCGA novel	600	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA199414681 rs1003206299	601	A>V		No	ClinGen Ensembl
CA374755826 rs1564595242	604	L>Q		No	ClinGen Ensembl
rs144259173 CA5221374	605	W>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA5221373 rs754218870	605	W>L		No	ClinGen ExAC gnomAD
rs1589227679 CA374755854	606	V>G		No	ClinGen Ensembl
rs772099624 CA5221377	609	G>E		No	ClinGen ExAC gnomAD
rs1022049924 CA199414698	610	A>T		No	ClinGen Ensembl
CA374755902 rs1260330171	611	S>G		No	ClinGen TOPMed
VAR_036339	611	S>N	a breast cancer sample; somatic mutation [UniProt]	No	UniProt
rs746958954 CA374755931 CA374755934	612	E>D		No	ClinGen ExAC gnomAD
CA374755920 rs1288565137	612	E>K		No	ClinGen TOPMed gnomAD
rs368207411 CA5221382	615	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA5221383 rs761716107	615	K>N		No	ClinGen ExAC TOPMed gnomAD
CA5221384 rs533621038	616	T>P		No	ClinGen 1000Genomes ExAC gnomAD
rs535229743 CA199414718	618	A>P		No	ClinGen Ensembl
rs535229743 CA199414716	618	A>T		No	ClinGen Ensembl
rs1589228278 CA374755997	619	Q>L		No	ClinGen Ensembl
CA5221388 rs753221509	623	R>K		No	ClinGen ExAC TOPMed gnomAD
CA199414725 rs1054334677	624	V>L		No	ClinGen TOPMed
rs1170622927 CA374756033	625	L>P		No	ClinGen gnomAD
rs572579017 CA5221389	626	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1404195872 CA374756036	626	R>W		No	ClinGen TOPMed gnomAD
rs1337468572 CA374756039	627	A>T		No	ClinGen gnomAD
rs1232909780 CA374756083	633	A>T		No	ClinGen gnomAD
CA5221391 rs754132863	634	E>K		No	ClinGen ExAC TOPMed gnomAD
rs930463647 CA199414743	637	E>K		No	ClinGen Ensembl
rs779678517 CA199414745	638	P>L		No	ClinGen Ensembl
TCGA novel	639	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA374757385 rs1564602892	639	D>V		No	ClinGen Ensembl
CA5221393 rs757684181	639	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA374757397 rs1262489917	640	G>D		No	ClinGen gnomAD
rs1589242701 CA374757404	641	F>L		No	ClinGen Ensembl
CA5221416 rs755154034	641	F>S		No	ClinGen ExAC gnomAD
CA5221420 rs531299160	646	G>D		No	ClinGen 1000Genomes ExAC gnomAD
rs141082919 CA5221422	647	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA374757511 rs1589243053	649	A>T		No	ClinGen Ensembl
CA5221423 rs770419491	650	A>V		No	ClinGen ExAC TOPMed gnomAD
CA374757536 rs1314268647	651	Y>H		No	ClinGen gnomAD
CA5221424 rs765486168	652	R>C		No	ClinGen ExAC TOPMed gnomAD
CA199415182 rs894352373	652	R>H		No	ClinGen TOPMed gnomAD
CA374757578 rs1472143900	654	S>F		No	ClinGen TOPMed
rs1237553449 CA374757589	655	P>L		No	ClinGen TOPMed
rs200319453 CA199415187	656	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs745355314 CA5221425	656	R>W		No	ClinGen ExAC gnomAD
CA374757615 rs1455727437	658	K>T		No	ClinGen TOPMed gnomAD
CA5221427 rs536159272	659	D>N		No	ClinGen ExAC gnomAD
CA374757640 rs1564603859	660	K>E		No	ClinGen Ensembl
CA5221428 rs762267106	663	D>G		No	ClinGen ExAC TOPMed gnomAD
CA374757696 rs762267106	663	D>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	667	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA374757755 rs1180128559	668	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs9696578 CA199415199	668	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5221431 rs763381957	669	L>F		No	ClinGen ExAC gnomAD
CA374757767 rs766507787	669	L>H		No	ClinGen ExAC gnomAD
rs766507787 CA5221432	669	L>P		No	ClinGen ExAC gnomAD
CA5221434 rs755089827	671	A>T		No	ClinGen ExAC TOPMed gnomAD
CA5221435 rs767748615	672	C>F		No	ClinGen ExAC gnomAD
CA374757805 rs767748615	672	C>Y		No	ClinGen ExAC gnomAD
CA374757814 rs1465036469	673	S>T		No	ClinGen gnomAD
rs1382934200 CA374757839	674	N>K		No	ClinGen gnomAD
rs752859095 CA5221436	674	N>S		No	ClinGen ExAC gnomAD
rs756053203 CA5221437	675	K>E		No	ClinGen ExAC TOPMed gnomAD
CA374757848 rs1589244342	675	K>R		No	ClinGen Ensembl
CA374757869 rs1364708265	677	G>R		No	ClinGen TOPMed
rs371328761 CA5221439	678	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA5221440 rs896776181	678	R>H		No	ClinGen TOPMed gnomAD
rs763056885	679	F>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA5221442 rs757131212	680	V>A		No	ClinGen ExAC gnomAD
rs908298803 CA199415326	681	I>V		No	ClinGen Ensembl
TCGA novel	682	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs749844499 CA5221468 COSM1743459 COSM1743458	682	E>K	biliary_tract Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs751212668 CA199415333	686	G>R		No	ClinGen Ensembl
rs962198207 CA199415339	688	L>I		No	ClinGen Ensembl
CA374758157 rs1357027431	692	D>G		No	ClinGen TOPMed
CA199415343 rs754692493	694	A>T		No	ClinGen gnomAD
rs1406476188 CA374758235	696	D>G		No	ClinGen gnomAD
CA374758266 rs1303548812	697	D>V		No	ClinGen gnomAD
CA5221473 rs752572521	698	V>I		No	ClinGen ExAC TOPMed gnomAD
CA374758385 rs1341619905	702	D>V		No	ClinGen gnomAD
rs1184411739 CA374758401	703	T>A		No	ClinGen TOPMed
CA5221474 rs186351262	704	W>R		No	ClinGen 1000Genomes ExAC gnomAD
rs753893776 CA5221476	705	D>E		No	ClinGen ExAC gnomAD
rs377710586 CA5221475	705	D>H		No	ClinGen ESP ExAC gnomAD
CA374758489 rs1482330536	706	Q>E		No	ClinGen TOPMed
rs201752493 CA199415973	710	W>C		No	ClinGen TOPMed
CA374759687 rs1446053943	714	D>N		No	ClinGen gnomAD
rs945772493 CA199415976	716	Q>*		No	ClinGen Ensembl
CA374759773 rs775835058	718	E>G		No	ClinGen ExAC gnomAD
rs1244129728 CA374759767	718	E>K		No	ClinGen TOPMed
CA5221491 rs775835058	718	E>V		No	ClinGen ExAC gnomAD
TCGA novel	720	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1385507807 CA374759858	723	A>G		No	ClinGen TOPMed gnomAD
rs1160089195 CA374759855	723	A>T		No	ClinGen gnomAD
rs1333582820 CA374759905	727	A>T		No	ClinGen gnomAD
CA374760340 rs1419362134	728	K>T		No	ClinGen TOPMed
rs767519230 CA5221525	729	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs755630687 CA5221524	729	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1457643057 CA374760352	730	Y>F		No	ClinGen gnomAD
CA5221526 rs753432646	730	Y>H		No	ClinGen ExAC gnomAD
CA199416440 rs545428148	732	E>K		No	ClinGen TOPMed gnomAD
rs1367894068 CA374760369	733	T>P		No	ClinGen gnomAD
CA374760371 rs1367894068	733	T>S		No	ClinGen gnomAD
rs1383358460 CA374760379	734	D>A		No	ClinGen gnomAD
rs1360526921 CA374760375	734	D>N		No	ClinGen gnomAD
RCV000498026 rs1554828093 CA374760393	736	A>G		No	ClinGen ClinVar Ensembl dbSNP
rs375881478 CA199416454	737	N>D		No	ClinGen ESP TOPMed
rs143285592 CA5221530	737	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5221531 rs528764941	738	R>W		No	ClinGen 1000Genomes ExAC gnomAD
CA374760405 rs1273641948	739	D>Y		No	ClinGen gnomAD
rs749370822 CA5221535	740	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs148360076 CA5221534	740	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA5221536 rs546941257	741	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1486813242 CA374760418	742	T>A		No	ClinGen gnomAD
rs759348434 CA5221538	742	T>M		No	ClinGen ExAC TOPMed gnomAD
rs1334747086 CA374760428	744	I>F		No	ClinGen TOPMed
CA374760438 rs1444199254	745	T>N		No	ClinGen gnomAD
rs775380124 CA5221540	746	V>M		No	ClinGen ExAC gnomAD
rs1158855311 CA374760448	747	V>A		No	ClinGen gnomAD
rs760207436 CA5221541	747	V>M		No	ClinGen ExAC gnomAD
CA374760455 rs1589274666	748	K>R		No	ClinGen Ensembl
CA374760472 rs1157552078	750	G>V		No	ClinGen TOPMed
rs1453967949 CA374760477	751	F>S		No	ClinGen TOPMed
rs1381805508 CA374760506	755	S>F		No	ClinGen TOPMed
rs1343937772 CA374760503	755	S>T		No	ClinGen gnomAD
rs139420096 CA374760515	757	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs139420096 CA5221543	757	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs761467289 CA5221545	764	D>H		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	764	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA199416527 rs572648532	765	D>N		No	ClinGen gnomAD
CA374760589 rs1383080178	767	Y>C		No	ClinGen gnomAD
rs938702801 CA374760597	768	W>*		No	ClinGen TOPMed gnomAD
CA199416533 rs938702801	768	W>L		No	ClinGen TOPMed gnomAD
CA199416536 rs868375413	772	P>H		No	ClinGen Ensembl
rs1304671346 CA374760624	772	P>S		No	ClinGen gnomAD
rs1216456531 CA374760630	773	L>S		No	ClinGen gnomAD
TCGA novel	775	R>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1261361909 CA374760654	776	A>V		No	ClinGen gnomAD
rs1460889014 CA374760657	777	M>L		No	ClinGen gnomAD
CA374760659 rs1289902736	777	M>T		No	ClinGen TOPMed
rs1460889014 CA374760656	777	M>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA374760677 rs1201886299	779	E>D		No	ClinGen gnomAD
COSM4163293 COSM4163291 CA374760671 rs1589275636	779	E>Q	thyroid [Cosmic]	No	ClinGen cosmic curated Ensembl
rs1245123716 CA374760683	781	A>T		No	ClinGen gnomAD

1 associated diseases with P06396

[MIM: 105120]: Amyloidosis 5 (AMYL5)

A hereditary generalized amyloidosis due to gelsolin amyloid deposition. It is typically characterized by cranial neuropathy and lattice corneal dystrophy. Most patients have modest involvement of internal organs, but severe systemic disease can develop in some individuals causing peripheral polyneuropathy, amyloid cardiomyopathy, and nephrotic syndrome leading to renal failure. {ECO:0000269|PubMed:1338910, ECO:0000269|PubMed:19666512, ECO:0000269|PubMed:2176481}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

A hereditary generalized amyloidosis due to gelsolin amyloid deposition. It is typically characterized by cranial neuropathy and lattice corneal dystrophy. Most patients have modest involvement of internal organs, but severe systemic disease can develop in some individuals causing peripheral polyneuropathy, amyloid cardiomyopathy, and nephrotic syndrome leading to renal failure. {ECO:0000269|PubMed:1338910, ECO:0000269|PubMed:19666512, ECO:0000269|PubMed:2176481}. Note=The disease is caused by variants affecting the gene represented in this entry.

6 regional properties for P06396

Type	Name	Position	InterPro Accession
domain	Gelsolin-like domain	76 - 158	IPR007123-1
domain	Gelsolin-like domain	198 - 270	IPR007123-2
domain	Gelsolin-like domain	317 - 389	IPR007123-3
domain	Gelsolin-like domain	455 - 536	IPR007123-4
domain	Gelsolin-like domain	576 - 642	IPR007123-5
domain	Gelsolin-like domain	681 - 756	IPR007123-6

Functions

		Description
EC Number
Subcellular Localization	[Isoform 2]: Cytoplasm, cytoskeleton ;
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

17 GO annotations of cellular component

Name	Definition
actin cap	Polarized accumulation of cytoskeletal proteins (including F-actin) and regulatory proteins in a cell. An example of this is the actin cap found in Saccharomyces cerevisiae.
actin cytoskeleton	The part of the cytoskeleton (the internal framework of a cell) composed of actin and associated proteins. Includes actin cytoskeleton-associated complexes.
blood microparticle	A phospholipid microvesicle that is derived from any of several cell types, such as platelets, blood cells, endothelial cells, or others, and contains membrane receptors as well as other proteins characteristic of the parental cell. Microparticles are heterogeneous in size, and are characterized as microvesicles free of nucleic acids.
cortical actin cytoskeleton	The portion of the actin cytoskeleton, comprising filamentous actin and associated proteins, that lies just beneath the plasma membrane.
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
extracellular exosome	A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm.
extracellular region	The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite.
extracellular space	That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid.
ficolin-1-rich granule lumen	Any membrane-enclosed lumen that is part of a ficolin-1-rich granule.
focal adhesion	A cell-substrate junction that anchors the cell to the extracellular matrix and that forms a point of termination of actin filaments. In insects focal adhesion has also been referred to as hemi-adherens junction (HAJ).
lamellipodium	A thin sheetlike process extended by the leading edge of a migrating cell or extending cell process; contains a dense meshwork of actin filaments.
phagocytic vesicle	A membrane-bounded intracellular vesicle that arises from the ingestion of particulate material by phagocytosis.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
podosome	An actin-rich adhesion structure characterized by formation upon cell substrate contact and localization at the substrate-attached part of the cell, contain an F-actin-rich core surrounded by a ring structure containing proteins such as vinculin and talin, and have a diameter of 0.5 mm.
sarcoplasm	The cytoplasm of a muscle cell; includes the sarcoplasmic reticulum.
secretory granule lumen	The volume enclosed by the membrane of a secretory granule.

6 GO annotations of molecular function

Name	Definition
actin binding	Binding to monomeric or multimeric forms of actin, including actin filaments.
actin filament binding	Binding to an actin filament, also known as F-actin, a helical filamentous polymer of globular G-actin subunits.
calcium ion binding	Binding to a calcium ion (Ca2+).
myosin II binding	Binding to a class II myosin, any member of the class of 'conventional' double-headed myosins that includes muscle myosin.
phosphatidylinositol 3-kinase catalytic subunit binding	Binding to the catalytic subunit of a phosphatidylinositol 3-kinase. The catalytic subunit catalyzes the addition of a phosphate group to an inositol lipid at the 3' position of the inositol ring.
phosphatidylinositol-4,5-bisphosphate binding	Binding to phosphatidylinositol-4,5-bisphosphate, a derivative of phosphatidylinositol in which the inositol ring is phosphorylated at the 4' and 5' positions.

32 GO annotations of biological process

Name	Definition
actin filament capping	The binding of a protein or protein complex to the end of an actin filament, thus preventing the addition, exchange or removal of further actin subunits.
actin filament depolymerization	Disassembly of actin filaments by the removal of actin monomers from a filament.
actin filament polymerization	Assembly of actin filaments by the addition of actin monomers to a filament.
actin filament reorganization	A process that is carried out at the cellular level which results in dynamic structural changes to the arrangement of actin filaments.
actin filament severing	The process in which an actin filament is broken down into smaller filaments.
actin nucleation	The initial step in the formation of an actin filament, in which actin monomers combine to form a new filament. Nucleation is slow relative to the subsequent addition of more monomers to extend the filament.
actin polymerization or depolymerization	Assembly or disassembly of actin filaments by the addition or removal of actin monomers from a filament.
amyloid fibril formation	The generation of amyloid fibrils, insoluble fibrous protein aggregates exhibiting beta sheet structure, from proteins.
barbed-end actin filament capping	The binding of a protein or protein complex to the barbed (or plus) end of an actin filament, thus preventing the addition, exchange or removal of further actin subunits.
cardiac muscle cell contraction	The actin filament-based process in which cytoplasmic actin filaments slide past one another resulting in contraction of a cardiac muscle cell.
cell projection assembly	Formation of a prolongation or process extending from a cell, e.g. a flagellum or axon.
cellular response to interferon-gamma	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 an interferon-gamma stimulus. Interferon gamma is the only member of the type II interferon found so far.
central nervous system development	The process whose specific outcome is the progression of the central nervous system over time, from its formation to the mature structure. The central nervous system is the core nervous system that serves an integrating and coordinating function. In vertebrates it consists of the brain and spinal cord. In those invertebrates with a central nervous system it typically consists of a brain, cerebral ganglia and a nerve cord.
cilium assembly	The assembly of a cilium, a specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface. Each cilium is bounded by an extrusion of the cytoplasmic membrane, and contains a regular longitudinal array of microtubules, anchored basally in a centriole.
hepatocyte apoptotic process	Any apoptotic process in a hepatocyte, the main structural component of the liver.
negative regulation of viral entry into host cell	Any process that stops, prevents, or reduces the frequency, rate or extent of the entry of viral entry into a host cell.
phagocytosis, engulfment	The internalization of bacteria, immune complexes and other particulate matter or of an apoptotic cell by phagocytosis, including the membrane and cytoskeletal processes required, which involves one of three mechanisms: zippering of pseudopods around a target via repeated receptor-ligand interactions, sinking of the target directly into plasma membrane of the phagocytosing cell, or induced uptake via an enhanced membrane ruffling of the phagocytosing cell similar to macropinocytosis.
positive regulation of actin nucleation	Any process that activates or increases the frequency, rate or extent of actin nucleation, the initial step in the formation of an actin filament in which actin monomers combine to form a new filament.
positive regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway	Any process that activates or increases the frequency, rate or extent of cysteine-type endopeptidase activity involved in apoptotic signaling pathway.
positive regulation of gene expression	Any process that increases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA).
positive regulation of keratinocyte apoptotic process	Any process that activates or increases the frequency, rate or extent of keratinocyte apoptotic process.
positive regulation of protein processing in phagocytic vesicle	Any process that activates or increases the frequency, rate or extent of protein processing in phagocytic vesicle.
protein destabilization	Any process that decreases the stability of a protein, making it more vulnerable to degradative processes or aggregation.
regulation of establishment of T cell polarity	Any process that modulates the frequency, rate or extent of establishment of T cell polarity.
regulation of plasma membrane raft polarization	Any process that modulates the frequency, rate or extent of plasma membrane raft polarization.
regulation of podosome assembly	Any process that modulates the frequency, rate or extent of podosome assembly.
regulation of receptor clustering	Any process that modulates the frequency, rate or extent of receptor clustering.
relaxation of cardiac muscle	The process in which the extent of cardiac muscle contraction is reduced.
renal protein absorption	A renal system process in which proteins are taken up from the collecting ducts, glomerulus and proximal and distal loops of the nephron. In non-mammalian species, absorption may occur in related structures (e.g. protein absorption is observed in nephrocytes in Drosophila, see PMID:23264686).
response to muscle stretch	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a myofibril being extended beyond its slack length.
sequestering of actin monomers	The selective interaction of actin monomers with specific molecules that inhibit their polymerization by preventing their access to other monomers.
striated muscle atrophy	A process, occurring in striated muscle, that is characterized by a decrease in protein content, fiber diameter, force production and fatigue resistance in response to different conditions such as starvation, aging and disuse.

6 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q3SX14	GSN	Gelsolin	Bos taurus (Bovine)	PR
Q24020	fliI	Protein flightless-1	Drosophila melanogaster (Fruit fly)	PR
O75366	AVIL	Advillin	Homo sapiens (Human)	PR
P13020	Gsn	Gelsolin	Mus musculus (Mouse)	PR
Q68FP1	Gsn	Gelsolin	Rattus norvegicus (Rat)	PR
O65570	VLN4	Villin-4	Arabidopsis thaliana (Mouse-ear cress)	PR

10	20	30	40	50	60
MAPHRPAPAL	LCALSLALCA	LSLPVRAATA	SRGASQAGAP	QGRVPEARPN	SMVVEHPEFL
70	80	90	100	110	120
KAGKEPGLQI	WRVEKFDLVP	VPTNLYGDFF	TGDAYVILKT	VQLRNGNLQY	DLHYWLGNEC
130	140	150	160	170	180
SQDESGAAAI	FTVQLDDYLN	GRAVQHREVQ	GFESATFLGY	FKSGLKYKKG	GVASGFKHVV
190	200	210	220	230	240
PNEVVVQRLF	QVKGRRVVRA	TEVPVSWESF	NNGDCFILDL	GNNIHQWCGS	NSNRYERLKA
250	260	270	280	290	300
TQVSKGIRDN	ERSGRARVHV	SEEGTEPEAM	LQVLGPKPAL	PAGTEDTAKE	DAANRKLAKL
310	320	330	340	350	360
YKVSNGAGTM	SVSLVADENP	FAQGALKSED	CFILDHGKDG	KIFVWKGKQA	NTEERKAALK
370	380	390	400	410	420
TASDFITKMD	YPKQTQVSVL	PEGGETPLFK	QFFKNWRDPD	QTDGLGLSYL	SSHIANVERV
430	440	450	460	470	480
PFDAATLHTS	TAMAAQHGMD	DDGTGQKQIW	RIEGSNKVPV	DPATYGQFYG	GDSYIILYNY
490	500	510	520	530	540
RHGGRQGQII	YNWQGAQSTQ	DEVAASAILT	AQLDEELGGT	PVQSRVVQGK	EPAHLMSLFG
550	560	570	580	590	600
GKPMIIYKGG	TSREGGQTAP	ASTRLFQVRA	NSAGATRAVE	VLPKAGALNS	NDAFVLKTPS
610	620	630	640	650	660
AAYLWVGTGA	SEAEKTGAQE	LLRVLRAQPV	QVAEGSEPDG	FWEALGGKAA	YRTSPRLKDK
670	680	690	700	710	720
KMDAHPPRLF	ACSNKIGRFV	IEEVPGELMQ	EDLATDDVML	LDTWDQVFVW	VGKDSQEEEK
730	740	750	760	770	780
TEALTSAKRY	IETDPANRDR	RTPITVVKQG	FEPPSFVGWF	LGWDDDYWSV	DPLDRAMAEL

AA