AiPD: Autoinhibited Protein Database

Q9H013

Gene name	ADAM19 (MLTNB, FKSG34)
Protein name	Disintegrin and metalloproteinase domain-containing protein 19
Names	ADAM 19, Meltrin-beta, Metalloprotease and disintegrin dendritic antigen marker, MADDAM
Species	Homo sapiens (Human)
KEGG Pathway	hsa:8728
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

786-923 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

786-923 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

Yeon JH et al. (2016) "Systems-wide Identification of cis-Regulatory Elements in Proteins", Cell Systems, 2, 89-100

Autoinhibited structure

Activated structure

1 structures for Q9H013

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q9H013-F1	Predicted				AlphaFoldDB

771 variants for Q9H013

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1174009635 CA361990951	3	G>V		No	ClinGen TOPMed
rs11465228 CA130194226	4	G>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs11465228 VAR_057066 CA3535726	4	G>S		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA361990936 rs1307057168	5	A>T		No	ClinGen gnomAD
rs754706085 CA3535725	7	A>P		No	ClinGen ExAC TOPMed gnomAD
CA361990913 rs754706085	7	A>T		No	ClinGen ExAC TOPMed gnomAD
CA361990903 rs1438640618	8	A>T		No	ClinGen TOPMed
CA130194218 rs950823696	10	L>V		No	ClinGen Ensembl
CA361990844 rs1170928112	11	C>F		No	ClinGen TOPMed gnomAD
rs1170928112 CA361990848	11	C>Y		No	ClinGen TOPMed gnomAD
rs779674969 CA3535723	12	L>F		No	ClinGen ExAC TOPMed gnomAD
CA361990817 rs1476229703	13	L>P		No	ClinGen gnomAD
rs1315460788 CA361990803	14	A>S		No	ClinGen TOPMed gnomAD
CA361990793 rs1229345987	14	A>V		No	ClinGen TOPMed
rs1258442300 CA361990791	15	F>L		No	ClinGen gnomAD
rs1181760278 CA361990762	16	A>S		No	ClinGen gnomAD
CA130194209 rs1039061939	17	L>R		No	ClinGen Ensembl
rs899412410 CA130194214	17	L>V		No	ClinGen Ensembl
rs1482224835 CA361990688	19	P>L		No	ClinGen gnomAD
rs1256776367 CA361990679	20	L>F		No	ClinGen gnomAD
CA361990664 rs1218556791	21	R>W		No	ClinGen TOPMed gnomAD
CA361990638 rs1277175602	22	P>L		No	ClinGen gnomAD
CA361990597 rs1321632251	24	A>V		No	ClinGen gnomAD
CA3535722 rs182321823	26	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1451728498 CA361990528	28	P>A		No	ClinGen TOPMed
rs1287212255 CA361990518	28	P>L		No	ClinGen gnomAD
rs1407578349 CA361990515	29	G>*		No	ClinGen gnomAD
CA130194201 rs1051757225	30	W>R		No	ClinGen Ensembl
CA361989693 rs1295253012	33	G>R		No	ClinGen gnomAD
CA3535695 CA3535694 rs759859649	34	S>R		No	ClinGen ExAC
CA3535692 rs771082082	35	E>G		No	ClinGen ExAC
rs774691656 CA3535693	35	E>Q		No	ClinGen ExAC
rs1327017962 CA361989656	37	G>D		No	ClinGen gnomAD
CA3535691 rs762935623	37	G>S		No	ClinGen ExAC
TCGA novel	37	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs776686676 CA3535690	39	P>T		No	ClinGen ExAC gnomAD
rs768487747 CA3535689	40	K>R		No	ClinGen ExAC gnomAD
CA361989610 rs1165311976	42	Q>*		No	ClinGen TOPMed
rs371085211 CA3535688	43	H>R		No	ClinGen ExAC gnomAD
rs555125046 CA130192784	45	L>P		No	ClinGen Ensembl
CA130192777 rs998081003	49	Q>R		No	ClinGen TOPMed
CA361989492 rs1435674531	52	T>S		No	ClinGen gnomAD
CA130192775 rs901096877	55	S>N		No	ClinGen TOPMed
CA361989452 rs1370314995	56	P>S		No	ClinGen TOPMed gnomAD
rs1301345289 CA361989436	57	V>A		No	ClinGen TOPMed
TCGA novel	57	V>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs771837230 CA3535686	57	V>M		No	ClinGen ExAC TOPMed gnomAD
CA130192770 rs1040360689	58	R>G		No	ClinGen TOPMed
rs1396981270 CA361989432	58	R>K		No	ClinGen TOPMed
CA361989402 rs1242547989	60	K>N		No	ClinGen gnomAD
TCGA novel	62	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs61753548 CA3535669	63	L>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA361988458 rs1397756562	66	E>G		No	ClinGen gnomAD
CA3535668 rs376533708	66	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA3535667 rs201342830	68	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
COSM1660398 rs1581358581 CA361988405	71	A>T	kidney [Cosmic]	No	ClinGen cosmic curated Ensembl
rs202186292 CA3535666	74	R>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs770496865 CA3535664	74	R>Q		No	ClinGen ExAC gnomAD
rs1249177982 CA361988366	77	I>V		No	ClinGen gnomAD
TCGA novel	79	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3535662 rs373220548	79	D>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA130190382 rs930342281	81	E>K		No	ClinGen Ensembl
rs1278523338 CA361988331	82	K>N		No	ClinGen TOPMed
CA3535660 rs748704983	82	K>R		No	ClinGen ExAC gnomAD
rs1336908024 CA361988329	83	N>D		No	ClinGen gnomAD
rs1373741517 CA361985632	85	Q>E		No	ClinGen gnomAD
CA130180380 rs917666809	85	Q>R		No	ClinGen TOPMed gnomAD
CA361985598 rs1433646141	88	A>P		No	ClinGen gnomAD
CA3535638 rs780334938	88	A>V		No	ClinGen ExAC TOPMed gnomAD
rs771669063 CA130180377	94	T>I		No	ClinGen gnomAD
COSM1143750 rs868131208 CA130180371	98	S>L	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated Ensembl NCI-TCGA
rs991950120 CA130180368	99	S>R		No	ClinGen TOPMed
rs1285493015 CA361985463	100	G>D		No	ClinGen gnomAD
CA3535635 rs779098164	101	N>I		No	ClinGen ExAC TOPMed gnomAD
CA361985449 rs1219898100	101	N>K		No	ClinGen gnomAD
CA3535634 rs11134804 RCV000965696	103	Q>E		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1470634357 CA361985426	103	Q>H		No	ClinGen TOPMed
rs774274091 CA130180349	106	T>I		No	ClinGen Ensembl
CA130180339 rs1023266655	107	R>Q		No	ClinGen TOPMed gnomAD
rs759414753 CA3535631	107	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1186047457 CA361985202	111	D>E		No	ClinGen TOPMed gnomAD
rs973923975 CA130192353	117	G>S		No	ClinGen TOPMed
COSM1150017 rs1446761254 CA361985156	117	G>V	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated Ensembl NCI-TCGA
rs952947999 CA130192351	118	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA3535616 rs375540919	121	E>Q		No	ClinGen ESP ExAC TOPMed
rs986558844 CA130192333	122	T>A		No	ClinGen TOPMed gnomAD
rs1275171439 CA361985128	122	T>K		No	ClinGen TOPMed
rs200776477 CA3535615	127	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA130192332 rs200776477	127	V>L		No	ClinGen ExAC TOPMed gnomAD
CA3535614 rs765350393	128	T>M		No	ClinGen ExAC TOPMed gnomAD
CA3535611 rs148112715	131	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA130192321 rs976244657	132	C>W		No	ClinGen TOPMed
rs1307114017 CA361985062	133	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
VAR_036146 rs200894535 CA3535610 COSM1435599	133	R>Q	large_intestine a colorectal cancer sample; somatic mutation [Cosmic, UniProt]	No	ClinGen cosmic curated UniProt 1000Genomes ExAC dbSNP gnomAD
rs1196300047 CA361985052	135	I>V		No	ClinGen gnomAD
rs773390573 CA3535579	140	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1305562800 CA361985003	141	V>M		No	ClinGen gnomAD
CA3535577 rs748275165	142	S>N		No	ClinGen ExAC gnomAD
rs781350967 CA3535576	144	N>S		No	ClinGen ExAC gnomAD
rs1288412734 CA361984975	145	L>V		No	ClinGen gnomAD
CA361984957 rs1174776824	147	Y>C		No	ClinGen TOPMed gnomAD
rs745870799 CA3535574	148	V>I		No	ClinGen ExAC TOPMed gnomAD
rs370864648 CA361984942	149	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA3535572 rs376419578	150	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs373327602 CA3535570	154	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs1455124233 CA361984909	155	S>G		No	ClinGen gnomAD
rs1169836998 CA361984902	155	S>R		No	ClinGen TOPMed
CA130187095 rs547498566	156	K>E		No	ClinGen gnomAD
CA361984898 rs1202922180	156	K>R		No	ClinGen gnomAD
TCGA novel	157	G>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1561541174 CA361984894	157	G>S		No	ClinGen Ensembl
CA361984888 rs1486605909	158	Q>K		No	ClinGen gnomAD
rs780418260 CA130187082	161	I>V		No	ClinGen TOPMed
rs1209824936 CA361984852	163	R>G		No	ClinGen gnomAD
CA361984850 rs1411198318	163	R>K		No	ClinGen TOPMed
CA361984845 rs1310472575	164	S>T		No	ClinGen TOPMed
rs767096840 CA3535567	166	H>R		No	ClinGen ExAC gnomAD
CA361984829 rs1345506078 COSM3786896	166	H>Y	pancreas [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1262881288 CA361984822	167	L>F		No	ClinGen gnomAD
COSM3393382 CA3535565 rs752116586	169	P>L	Variant assessed as Somatic; 0.0 impact. pancreas [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA3535566 rs370153451	169	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs374662706 CA361984804	170	P>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs374662706 CA3535562	170	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs374662706 CA3535563	170	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs377731134 CA130187058	170	P>S		No	ClinGen ESP TOPMed gnomAD
CA3535560 rs141344301	171	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA3535559 rs776683806	175	G>E		No	ClinGen ExAC
CA3535558 rs199763273	176	F>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3535556 rs199752656 COSM1181788	177	E>K	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA3535555 rs376577956	178	H>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA3535553 rs755895049 COSM1310900	179	S>C	Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs755895049 CA130186998	179	S>F		No	ClinGen ExAC TOPMed gnomAD
CA3535554 rs749130872	179	S>P		No	ClinGen ExAC gnomAD
TCGA novel	180	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3535552 rs755837277	181	P>S		No	ClinGen ExAC gnomAD
CA361984727 rs1405816742	183	T>A		No	ClinGen TOPMed
CA3535550 rs780694440	183	T>I		No	ClinGen ExAC gnomAD
rs1405816742 CA361984726	183	T>S		No	ClinGen TOPMed
rs1225287560 CA361984723	184	R>G		No	ClinGen gnomAD
CA3535548 rs199592976	184	R>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA361984716 rs1296451392	185	D>H		No	ClinGen TOPMed gnomAD
CA3535546 rs763470596	191	T>I		No	ClinGen ExAC gnomAD
CA130186954 rs910371720	192	Q>*		No	ClinGen TOPMed gnomAD
TCGA novel	193	Q>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs750869282 CA3535545	194	T>S		No	ClinGen ExAC gnomAD
CA361984642 rs1376519930	195	K>R		No	ClinGen TOPMed gnomAD
rs1367297745 CA361984637	196	K>Q		No	ClinGen TOPMed
rs199516624 CA3535544 COSM1595173	197	R>*	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
COSM1543071 CA130186942 rs147812090	197	R>L	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA3535543 COSM1595174 rs147812090	197	R>Q	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA361984625 rs1373129582	198	P>R		No	ClinGen gnomAD
CA3535542 rs202171443	199	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs189781149 CA3535541	199	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA130186927 rs189781149	199	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1419573348 CA361984618	200	R>K		No	ClinGen gnomAD
rs1188316032 CA361984615	200	R>S		No	ClinGen gnomAD
CA3535512 rs370704540	201	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs745377770 CA3535511	203	R>G		No	ClinGen ExAC gnomAD
rs1561540589 CA361984584	203	R>K		No	ClinGen Ensembl
TCGA novel	204	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3535510 rs778449453	207	N>S		No	ClinGen ExAC gnomAD
CA3535508 rs144540269	208	S>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA3535507 rs144540269	208	S>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs757730505 CA3535509	208	S>P		No	ClinGen ExAC gnomAD
CA361984542 rs1160028181	209	M>I		No	ClinGen gnomAD
CA361984547 rs201737884	209	M>L		No	ClinGen ExAC TOPMed gnomAD
CA3535506 rs201737884	209	M>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	211	Y>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA361984528 rs1454141330	211	Y>S		No	ClinGen gnomAD
rs1483668821 CA361984507	214	L>F		No	ClinGen TOPMed
rs570643674 CA130186347	216	L>V		No	ClinGen Ensembl
CA3535504 rs767863508	217	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1455570134 CA361984484	218	A>T		No	ClinGen gnomAD
rs1254950199 CA361984478	219	D>N		No	ClinGen gnomAD
rs1246535938 CA361984474	219	D>V		No	ClinGen TOPMed
rs1446570493 CA361984453	222	E>G		No	ClinGen gnomAD
CA3535503 rs201661633	222	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA3535477 rs775287603	227	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs982021948 CA130183859	227	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1049680013 CA361984401	228	R>*		No	ClinGen TOPMed
rs1049680013 CA130183854	228	R>G		No	ClinGen TOPMed
CA361984399 rs1468956869	228	R>Q		No	ClinGen TOPMed
rs1328130594 CA361984392	229	D>V		No	ClinGen gnomAD
CA130183853 rs372492165	230	Q>R		No	ClinGen ESP TOPMed gnomAD
rs1417449299 CA361984382	231	D>N		No	ClinGen gnomAD
rs1478234364 CA361984374	232	A>T		No	ClinGen TOPMed gnomAD
CA3535475 rs759156279	233	T>A		No	ClinGen ExAC gnomAD
rs770409138 CA3535473	234	K>Q		No	ClinGen ExAC TOPMed gnomAD
CA361984360 rs1238454002	234	K>R		No	ClinGen TOPMed gnomAD
CA361984353 rs1561538281	235	H>R		No	ClinGen Ensembl
rs748823495 CA3535472	236	K>E		No	ClinGen ExAC gnomAD
rs1581317267 CA361984334	238	I>V		No	ClinGen Ensembl
rs777350579 CA3535471	241	A>T		No	ClinGen ExAC gnomAD
CA3535470 rs377464157	241	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1440974198 CA361984309	242	N>H		No	ClinGen TOPMed
rs748613097 CA3535469	242	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1370764203 CA361984291	244	V>A		No	ClinGen TOPMed
rs773962650 CA3535457	249	R>*		No	ClinGen ExAC gnomAD
CA361984242 rs770714695	249	R>L		No	ClinGen ExAC TOPMed gnomAD
CA3535456 rs770714695	249	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA361984236 rs1285830844	250	S>F		No	ClinGen TOPMed
CA361984231 rs1349588438	251	L>W		No	ClinGen TOPMed
rs761444652 CA3535454	254	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1309925501 CA361984202	256	A>T		No	ClinGen gnomAD
rs1440133643 CA361984194	257	L>F		No	ClinGen gnomAD
CA361984190 rs1269548513 COSM1154424	258	V>M	pancreas Variant assessed as Somatic; impact. endometrium [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA361984181 rs1324035648	259	G>V		No	ClinGen TOPMed gnomAD
CA361984170 rs1459636630	261	E>K		No	ClinGen gnomAD
rs1366043747 CA361984161	262	V>L		No	ClinGen gnomAD
CA361984142 rs1470669699	265	H>N		No	ClinGen TOPMed
CA361984136 rs529819229	265	H>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3535451 rs777190190	265	H>R		No	ClinGen ExAC TOPMed gnomAD
rs369469519 CA3535449	266	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	266	G>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA361984125 rs1362711404	267	N>T		No	ClinGen gnomAD
CA361984078 rs1250579607	273	E>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA3535447 rs758642612	274	N>D		No	ClinGen ExAC gnomAD
CA3535446 rs550370689	274	N>T		No	ClinGen 1000Genomes ExAC gnomAD
rs779004435 CA3535445	276	Y>H		No	ClinGen ExAC gnomAD
CA3535441 rs1422795	284	S>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3535440 rs751398576	284	S>N		No	ClinGen ExAC gnomAD
CA361984011 rs1422795	284	S>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA361983996 rs1037650463	286	R>G		No	ClinGen gnomAD
CA361983987 COSM1435598 rs1368514508	287	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA3535437 rs772964251	287	R>H		No	ClinGen ExAC TOPMed gnomAD
rs772964251 CA3535438	287	R>L		No	ClinGen ExAC TOPMed gnomAD
rs1362819902 CA361983965	291	A>T		No	ClinGen gnomAD
CA361983955 rs1561536299	292	Q>L		No	ClinGen Ensembl
TCGA novel	292	Q>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3535434 rs139715035	293	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA806229440 rs1292149183	294	Y>*		No	ClinGen TOPMed
rs1434574039 CA361983917	297	N>S		No	ClinGen gnomAD
VAR_036147 CA361983911 rs1178207005	298	A>T	Variant assessed as Somatic; impact. a colorectal cancer sample; somatic mutation [NCI-TCGA, UniProt]	No	ClinGen UniProt NCI-TCGA dbSNP gnomAD
TCGA novel	299	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs775973204 CA3535431	302	T>M		No	ClinGen ExAC gnomAD
rs1184384203 CA361983883	302	T>S		No	ClinGen gnomAD
CA361983652 rs1397119176	303	G>R		No	ClinGen gnomAD
rs780125962 CA3535405	303	G>V		No	ClinGen ExAC
CA361983639 rs1295887251	304	M>T		No	ClinGen gnomAD
rs577256277 COSM1725326 CA3535404	304	M>V	liver [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC gnomAD
rs1400522936 CA361983590	308	G>S		No	ClinGen TOPMed gnomAD
CA361983580 rs1474047529	309	T>S		No	ClinGen gnomAD
rs753403056 CA3535400	311	I>V		No	ClinGen ExAC gnomAD
CA3535398 rs760091053	312	G>S		No	ClinGen ExAC
CA3535395 rs759999401	314	A>D		No	ClinGen ExAC gnomAD
CA361983520 rs1283134328	315	P>R		No	ClinGen gnomAD
CA3535393 rs146355862	315	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA3535391 rs370143181	316	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA3535392 rs370143181	316	L>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs370143181 CA3535390	316	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs754236524 CA130180751	318	A>V		No	ClinGen gnomAD
rs1335633282 CA361983414	323	Y>C		No	ClinGen gnomAD
CA361983400 rs1307752947	324	Q>R		No	ClinGen gnomAD
rs1449702349 CA361983377	326	G>E		No	ClinGen gnomAD
CA3535388 rs141591910	329	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA3535387 rs781352367	330	M>T		No	ClinGen ExAC TOPMed gnomAD
rs1324696716 CA361983332	330	M>V		No	ClinGen gnomAD
CA361983271 rs1199824312	333	S>F		No	ClinGen gnomAD
CA3535369 rs768825848	334	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs376037302 CA3535368	336	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA361983240 rs1488869243	338	G>D		No	ClinGen gnomAD
rs569940826 CA3535366	339	V>M		No	ClinGen 1000Genomes ExAC gnomAD
CA361983226 rs1274992306	341	A>T		No	ClinGen gnomAD
CA361983205 rs1337972318	343	M>I		No	ClinGen gnomAD
rs777587974 CA3535364	343	M>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
TCGA novel	344	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3535363 rs755787671	345	H>D		No	ClinGen ExAC gnomAD
CA361983182 rs1400410486	345	H>R		No	ClinGen gnomAD
TCGA novel	345	H>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA361983173 rs1332076059	346	E>K	Variant assessed as Somatic; 4.629e-05 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1169413994 CA361983143	347	M>I		No	ClinGen TOPMed
rs1475628221 CA361983151	347	M>T		No	ClinGen TOPMed
CA361983133 rs1416150672	348	G>D		No	ClinGen gnomAD
CA361983079 rs1427337534	352	G>S		No	ClinGen gnomAD
rs780718050 CA3535361	352	G>V		No	ClinGen ExAC gnomAD
rs754478152 CA3535360	354	T>N		No	ClinGen ExAC gnomAD
rs1421771832 CA361983033	355	H>R		No	ClinGen gnomAD
CA361982996 rs1196233850	358	A>T		No	ClinGen gnomAD
rs1257322688 CA361982959	360	C>Y		No	ClinGen gnomAD
rs766806071 CA3535358	362	S>L		No	ClinGen ExAC TOPMed gnomAD
CA130179978 rs112756428	364	S>N		No	ClinGen TOPMed
rs376304653 CA3535356	365	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA361982854 rs1297822820	367	D>E		No	ClinGen TOPMed
CA361982844 rs1341348036	368	G>D		No	ClinGen TOPMed
CA3535353 rs776991292	370	C>R		No	ClinGen ExAC gnomAD
CA3535352 rs764327770	370	C>Y		No	ClinGen ExAC gnomAD
CA361982815 rs1230166970	371	I>L		No	ClinGen TOPMed
rs760851184 CA3535351	372	M>K		No	ClinGen ExAC gnomAD
rs760851184 CA361982795	372	M>R		No	ClinGen ExAC gnomAD
rs775576511 CA3535350	373	A>T		No	ClinGen ExAC gnomAD
rs1450117659 CA361982773	374	A>P		No	ClinGen TOPMed gnomAD
CA361982775 rs1450117659	374	A>T		No	ClinGen TOPMed gnomAD
rs1581309818 CA361982765	374	A>V		No	ClinGen Ensembl
rs749202812 CA361982751	376	T>A		No	ClinGen ExAC gnomAD
CA3535348 rs749202812	376	T>P		No	ClinGen ExAC gnomAD
rs772932136 CA3535347	377	G>R		No	ClinGen ExAC gnomAD
rs1336339298 CA361982607	378	H>Q		No	ClinGen gnomAD
CA3535328 rs769632513	384	F>L		No	ClinGen ExAC gnomAD
CA361982560 rs1244640986	385	N>S		No	ClinGen gnomAD
rs1482513927 CA361982525	390	R>K		No	ClinGen TOPMed
rs1283372987 CA361982493	394	R>S		No	ClinGen TOPMed gnomAD
rs1016209111 CA130178261	397	Q>H		No	ClinGen gnomAD
rs1447640808 CA361982459	400	G>S		No	ClinGen gnomAD
CA361982442 rs1367124454	402	M>I		No	ClinGen gnomAD
TCGA novel	403	C>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA361982429 rs1291973076	404	L>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA130178260 rs985093751	409	D>E		No	ClinGen TOPMed
rs1438933187 CA361981880	410	T>N		No	ClinGen gnomAD
CA361981849 rs1414439729	412	M>I		No	ClinGen TOPMed
rs377128095 CA3535325	417	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA3535326 rs369868105	417	R>W	Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs746622419 CA3535324	418	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1382714109 CA361981786	421	N>D		No	ClinGen gnomAD
CA3535323 rs779477850	422	G>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	427	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs56384823 CA361981684	435	E>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs56384823 CA3535322	435	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	437	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1312944077 CA361981657	437	E>Q		No	ClinGen gnomAD
CA3535296 rs749792522	438	C>G		No	ClinGen ExAC TOPMed gnomAD
CA361981649 rs749792522	438	C>R		No	ClinGen ExAC TOPMed gnomAD
CA3535294 rs756500299	441	P>H		No	ClinGen ExAC TOPMed gnomAD
rs1395889562 CA361981610	443	C>F		No	ClinGen gnomAD
CA361981607 rs1357481281	443	C>W		No	ClinGen TOPMed gnomAD
CA361981602 rs1400709629	444	N>S		No	ClinGen gnomAD
rs755087118 CA361981595	445	A>G		No	ClinGen ExAC TOPMed gnomAD
CA3535292 rs781485705	445	A>T		No	ClinGen ExAC TOPMed gnomAD
rs755087118 CA3535291	445	A>V		No	ClinGen ExAC TOPMed gnomAD
CA3535290 rs751666308	446	S>T		No	ClinGen ExAC TOPMed gnomAD
rs1168071802 CA361981568	449	T>I		No	ClinGen gnomAD
rs1484328599 CA361981565	450	L>P		No	ClinGen TOPMed
rs1424063673 CA361981560	451	R>K		No	ClinGen gnomAD
rs147064466 CA3535288	452	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs147064466 CA3535289	452	P>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3535286 rs13354726	454	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs932608707 CA130176538	456	C>Y		No	ClinGen TOPMed
TCGA novel	458	H>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3535282 rs114344861	458	H>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3535283 rs138848276	458	H>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs775083602 CA3535284	458	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA361981513 rs1252193734	459	G>R		No	ClinGen TOPMed gnomAD
CA361981514 rs1252193734	459	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
TCGA novel	460	S>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA361981488 rs1581303255	462	C>*		No	ClinGen Ensembl
CA3535278 rs140900233	464	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA361981475 rs749880422	464	Q>P		No	ClinGen ExAC TOPMed gnomAD
CA3535279 rs749880422	464	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs376290607 CA361981401	468	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs1450159378 CA361981380	470	P>S		No	ClinGen gnomAD
rs767200476 CA3535254	472	T>I		No	ClinGen ExAC gnomAD
rs767200476 CA3535253	472	T>N		No	ClinGen ExAC gnomAD
CA361981353 rs745980830	473	L>M		No	ClinGen ExAC TOPMed gnomAD
CA3535252 rs745980830	473	L>V		No	ClinGen ExAC TOPMed gnomAD
rs1346880028 CA361981331	474	C>*		No	ClinGen TOPMed
rs756128488 CA3535250	475	R>C		No	ClinGen ExAC TOPMed gnomAD
CA361981320 rs1282398094	475	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA361981305 rs1230602004	476	E>D		No	ClinGen gnomAD
rs781112206 CA3535248	476	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1581300171 CA361981289	478	A>T		No	ClinGen Ensembl
rs754810839 CA361981265	480	Q>*		No	ClinGen ExAC TOPMed gnomAD
rs754810839 CA3535247	480	Q>E		No	ClinGen ExAC TOPMed gnomAD
CA361981243 rs1283633183	481	C>F		No	ClinGen gnomAD
TCGA novel	482	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs373149719 CA3535246	484	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA130170624 rs1009310124	487	C>R		No	ClinGen TOPMed gnomAD
CA3535244 rs200811359	488	T>M		No	ClinGen ESP ExAC gnomAD
CA361981088 rs1379608211	492	P>L		No	ClinGen gnomAD
TCGA novel	493	H>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs761824631 CA3535241	497	N>D		No	ClinGen ExAC TOPMed gnomAD
CA361981039 rs1477679872	497	N>S		No	ClinGen gnomAD
rs1581300091 CA361981033	498	F>L		No	ClinGen Ensembl
CA361981024 rs1261540806	499	Y>C		No	ClinGen gnomAD
rs776999114 CA3535240	501	M>T		No	ClinGen ExAC gnomAD
rs1422084838 CA361980986	502	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs774391030 CA3535238	505	P>H		No	ClinGen ExAC gnomAD
rs774391030 CA3535239	505	P>R		No	ClinGen ExAC gnomAD
rs151006818 CA3535237	508	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA361980889 rs1338135514	509	G>D		No	ClinGen gnomAD
CA3535235 rs746068966	509	G>S		No	ClinGen ExAC TOPMed gnomAD
rs779093151 CA3535234	510	Q>H		No	ClinGen ExAC gnomAD
rs1431306146 CA361980834	513	C>Y		No	ClinGen gnomAD
rs1323466793 CA361980810	515	N>D		No	ClinGen TOPMed
rs867792918 CA130170547	516	G>D		No	ClinGen Ensembl
CA3535232 rs377186519	516	G>S		No	ClinGen ESP ExAC gnomAD
CA361980751 rs1408437146	519	L>F		No	ClinGen gnomAD
TCGA novel	519	L>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs961802025 CA130170539	522	Q>E		No	ClinGen Ensembl
rs1169881173 CA361980689	523	E>G		No	ClinGen Ensembl
CA361980676 rs1261428735	524	Q>*		No	ClinGen TOPMed
CA361980664 rs1465353855	525	C>S		No	ClinGen gnomAD
TCGA novel	529	W>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs142646672	531	P>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs1196303620 CA361980616	531	P>H		No	ClinGen gnomAD
rs1211836128 CA361980617	531	P>S		No	ClinGen TOPMed
TCGA novel	532	G>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3535228 rs148827106	532	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1023832836 CA130168911	533	A>V		No	ClinGen TOPMed
CA361980590 rs1229955511	534	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1561845053 CA361980585	535	P>S		No	ClinGen Ensembl
CA361980569 rs1239557183	538	D>Y		No	ClinGen gnomAD
CA361980559 rs1374820572	539	L>F		No	ClinGen gnomAD
rs745592333 CA3535208	542	E>K		No	ClinGen ExAC gnomAD
CA361980527 rs1349664220	543	K>M		No	ClinGen gnomAD
TCGA novel	549	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1437243016 CA361980477	551	F>V		No	ClinGen gnomAD
rs1177409125 CA361980466	552	G>E		No	ClinGen gnomAD
rs1409581731 CA361980470	552	G>R		No	ClinGen gnomAD
CA361980452 rs1274696345	554	C>F		No	ClinGen TOPMed
rs866092553 CA130168889	555	G>R		No	ClinGen Ensembl
CA361980428 rs1581297202	557	D>E		No	ClinGen Ensembl
CA361980407 rs1223509177	560	G>A		No	ClinGen gnomAD
CA3535204 rs763574862	560	G>R		No	ClinGen ExAC gnomAD
rs756656499 CA361980053	564	K>N		No	ClinGen ExAC TOPMed gnomAD
rs1179745380 CA361980027	566	N>S		No	ClinGen TOPMed
rs1351584458 CA361980006	567	M>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA3535201 rs756876568	567	M>R		No	ClinGen ExAC TOPMed gnomAD
CA130167914 rs146655125	569	D>A		No	ClinGen ESP
rs553414033 CA3535181	570	A>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
COSM1154423 CA3535180 rs553414033	570	A>V	endometrium [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
TCGA novel	571	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1224090714 CA361979850	571	K>R		No	ClinGen TOPMed
CA361979836 rs1364711936	572	C>Y		No	ClinGen gnomAD
CA3535178 rs375120057	575	I>T		No	ClinGen ESP ExAC gnomAD
rs1319830026 CA361979765	577	C>F		No	ClinGen TOPMed
rs765470646 CA3535177	580	S>A		No	ClinGen ExAC gnomAD
CA3535176 rs761997923	582	A>T		No	ClinGen ExAC gnomAD
CA3535174 rs529559129	583	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs776784665 CA3535175	583	R>W		No	ClinGen ExAC TOPMed gnomAD
CA3535172 rs774054863	584	P>S		No	ClinGen ExAC gnomAD
rs1262385352 CA361979708	585	L>R		No	ClinGen gnomAD
rs1181246501 CA361979705	586	E>K		No	ClinGen gnomAD
CA3535170 rs749000395	587	S>C		No	ClinGen ExAC gnomAD
rs1037019010 CA130167817	587	S>T		No	ClinGen TOPMed
CA3535169 rs777419913	588	N>S		No	ClinGen ExAC TOPMed gnomAD
CA361979692 rs777419913	588	N>T		No	ClinGen ExAC TOPMed gnomAD
CA3535167 rs747691760	589	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA3535166 rs780699401	589	A>V		No	ClinGen ExAC TOPMed gnomAD
CA3535164 rs752071144	590	V>M		No	ClinGen ExAC gnomAD
rs909937897 CA130167790	591	P>S		No	ClinGen TOPMed
CA3535162 rs758774350	593	D>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	593	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs750757281 CA3535161	594	T>N		No	ClinGen ExAC gnomAD
CA361979650 rs1353511632	595	T>I		No	ClinGen TOPMed
rs765560665 CA3535160	596	I>L		No	ClinGen ExAC gnomAD
rs1399125707 CA361979647	596	I>N		No	ClinGen gnomAD
rs762086190 CA3535159	598	M>V		No	ClinGen ExAC gnomAD
rs561919833 CA130167780	599	N>K		No	ClinGen Ensembl
CA3535157 rs754020073	603	I>V		No	ClinGen ExAC gnomAD
rs1422052380 CA361979575	606	R>Q		No	ClinGen gnomAD
rs764203673 CA3535156	606	R>W		No	ClinGen ExAC gnomAD
TCGA novel	607	G>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA361979567 rs1383386193	608	T>A		No	ClinGen gnomAD
rs1185514017 CA361979565	608	T>I		No	ClinGen gnomAD
VAR_062670	609	H>Q	a pancreatic ductal adenocarcinoma sample; somatic mutation [UniProt]	No	UniProt
CA361979554 rs759459737	610	V>F		No	ClinGen ExAC gnomAD
CA3535155 rs759459737	610	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA3535153 rs770719684	612	R>*		No	ClinGen ExAC TOPMed gnomAD
rs1252325479 CA361979532	613	G>V		No	ClinGen gnomAD
rs1357946219 CA361979511	616	E>D		No	ClinGen gnomAD
CA3535150 rs769455423	620	M>T		No	ClinGen ExAC gnomAD
rs747773326 CA3535149	624	G>R		No	ClinGen ExAC gnomAD
CA130167690 CA130167691 rs1038412130	627	M>I		No	ClinGen TOPMed
CA361979441 rs1485035231	627	M>K		No	ClinGen gnomAD
rs780604591 CA3535148	630	T>I		No	ClinGen ExAC gnomAD
rs780604591 CA130167686	630	T>N		No	ClinGen ExAC gnomAD
TCGA novel	637	I>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	644	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1479651474 CA361979018	648	F>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	649	F>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs749559925 CA3535121	651	T>N		No	ClinGen ExAC gnomAD
rs778063164 CA3535120	653	G>A		No	ClinGen ExAC TOPMed gnomAD
CA361978950 rs778063164	653	G>D		No	ClinGen ExAC TOPMed gnomAD
CA130167081 rs778063164	653	G>V		No	ClinGen ExAC TOPMed gnomAD
CA3535119 rs756253549	654	C>S		No	ClinGen ExAC
CA3535117 rs752847811	656	K>R		No	ClinGen ExAC gnomAD
rs2287749 CA3535116	660	G>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3535115 rs758368854	661	H>P		No	ClinGen ExAC gnomAD
rs758368854 CA361978844	661	H>R		No	ClinGen ExAC gnomAD
rs1337755260 CA361978773	663	V>I		No	ClinGen gnomAD
CA361978731 rs1409718015	666	N>D		No	ClinGen gnomAD
CA3535096 rs765166182	668	Q>*		No	ClinGen ExAC gnomAD
CA3535095 rs757103387	669	N>S		No	ClinGen ExAC gnomAD
CA361978683 rs757103387	669	N>T		No	ClinGen ExAC gnomAD
CA3535094 rs753689875	670	C>S		No	ClinGen ExAC gnomAD
rs1181242461 CA361978668	670	C>Y		No	ClinGen gnomAD
rs150693665 CA3535092	674	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3535093 rs150693665	674	P>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs767219173 CA3535090	675	G>D		No	ClinGen ExAC TOPMed gnomAD
rs767219173 CA361978626	675	G>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	676	W>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA361978608 rs1418288916	678	P>S		No	ClinGen TOPMed
rs1581293426 CA361978602	679	P>S		No	ClinGen Ensembl
rs1172515624 CA361978572	683	T>S		No	ClinGen TOPMed
rs771583639 CA3535087	684	P>L		No	ClinGen ExAC TOPMed gnomAD
CA3535088 rs773956047	684	P>T		No	ClinGen ExAC gnomAD
CA361978551 rs141977307	686	H>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1202250387 CA361978554	686	H>R		No	ClinGen gnomAD
CA130166902 rs893393080	687	G>R		No	ClinGen TOPMed gnomAD
TCGA novel	688	G>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1331308605 CA361978540	688	G>V		No	ClinGen gnomAD
rs748464152 CA3535083	691	D>H		No	ClinGen ExAC TOPMed gnomAD
CA3535084 rs748464152	691	D>N		No	ClinGen ExAC TOPMed gnomAD
rs1385384671 CA361978517	692	S>G		No	ClinGen gnomAD
rs34882961 RCV000888442 CA3535080	694	P>S		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1220917278 CA361978492	695	M>I		No	ClinGen TOPMed
CA3535079 rs780061330	695	M>L		No	ClinGen ExAC gnomAD
rs572323626 CA3535077	696	P>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs572323626 CA361978490	696	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs572323626 CA361978489	696	P>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3535078 rs746170380	696	P>S		No	ClinGen ExAC TOPMed gnomAD
rs746170380 CA130166878	696	P>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	697	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA130166873 rs941473999	697	P>S		No	ClinGen Ensembl
rs147449589 CA3535056	700	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	705	A>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1581291659 CA361978409	707	V>G		No	ClinGen Ensembl
CA130166044 rs1042932912	707	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA3535055 rs781108951	708	L>W		No	ClinGen ExAC gnomAD
CA130166041 rs368092419	709	V>A		No	ClinGen ESP TOPMed gnomAD
CA361978396 rs1175375090	710	A>T		No	ClinGen gnomAD
CA3535054 rs754714612	713	V>M		No	ClinGen ExAC TOPMed gnomAD
CA3535053 rs375055045	715	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA361978356 rs1581291610	716	V>G		No	ClinGen Ensembl
rs1398708772 CA361978361	716	V>I		No	ClinGen TOPMed
rs749884734 CA3535050	717	L>F		No	ClinGen ExAC TOPMed gnomAD
rs1581291593 CA361978350	718	M>L		No	ClinGen Ensembl
rs1323103715 CA361978332	720	M>T		No	ClinGen gnomAD
rs765695896 CA3535049	721	Y>C		No	ClinGen ExAC gnomAD
rs765695896 CA361978324	721	Y>S		No	ClinGen ExAC gnomAD
rs1011805039 CA130165985	722	Y>C		No	ClinGen TOPMed
CA3535048 rs143138819 COSM3947193	724	C>F	lung [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs1581291555 CA361978300	724	C>W		No	ClinGen Ensembl
rs143138819 CA3535047	724	C>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA361978299 rs1324769624	725	R>G		No	ClinGen gnomAD
rs1356832101 CA361978295	725	R>I		No	ClinGen gnomAD
CA361978293 rs1290514121	725	R>S		No	ClinGen gnomAD
CA361978292 rs1240758948	726	Q>K		No	ClinGen TOPMed
CA361978280 rs1295472046	727	N>S		No	ClinGen gnomAD
CA130165958 rs894420408	728	N>D		No	ClinGen Ensembl
CA3535045 rs760945734	729	K>N		No	ClinGen ExAC TOPMed gnomAD
CA3535044 rs199716906	732	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA3535043 rs772267904	733	L>F		No	ClinGen ExAC gnomAD
rs745963126 CA3535042	733	L>P		No	ClinGen ExAC gnomAD
rs781195573 CA3535038	736	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA130165914 rs917450489	736	S>P		No	ClinGen TOPMed
rs754811006 CA3535037	737	A>G		No	ClinGen ExAC TOPMed gnomAD
rs546540254 CA3535036	738	L>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs759307162 CA3535033	740	S>*		No	ClinGen ExAC gnomAD
rs10067096 CA3535034	740	S>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	745	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1483776816 CA361978172	745	Q>K		No	ClinGen gnomAD
rs149511726 CA3535015	748	C>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs149511726 CA361978135	748	C>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA361978126 rs1244987852	749	P>L		No	ClinGen TOPMed gnomAD
CA361978112 rs778354767 COSM1595182	751	R>S	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA3535012 rs756772612	752	V>I		No	ClinGen ExAC gnomAD
rs971422780 CA130165033	753	S>F		No	ClinGen Ensembl
CA130165027 rs963496545	754	Q>H		No	ClinGen TOPMed gnomAD
CA130165032 rs993884128	754	Q>P		No	ClinGen TOPMed
CA361978076 rs1279840577	757	G>E		No	ClinGen TOPMed
CA3535010 CA361978078 rs768236748	757	G>R		No	ClinGen ExAC TOPMed gnomAD
CA130165011 rs1007591734	759	G>A		No	ClinGen TOPMed gnomAD
CA361978052 rs1561841755	761	A>D		No	ClinGen Ensembl
CA3535009 rs540583846	761	A>S		No	ClinGen 1000Genomes ExAC gnomAD
rs1179987267 CA361978029	763	P>A		No	ClinGen gnomAD
CA3535008 rs753049471	763	P>L		No	ClinGen ExAC gnomAD
rs767890396 CA3535007	764	T>A		No	ClinGen ExAC gnomAD
rs1561841733 CA361978010	764	T>N		No	ClinGen Ensembl
CA361978016 rs767890396	764	T>S		No	ClinGen ExAC gnomAD
CA130164991 rs1027557447	765	F>S		No	ClinGen gnomAD
CA3535006 rs759739166	766	K>E		No	ClinGen ExAC gnomAD
CA3535005 rs751789350	767	L>M		No	ClinGen ExAC gnomAD
rs766654040 CA3535004	769	T>M		No	ClinGen ExAC TOPMed gnomAD
rs199838986 CA3535002	771	Q>L		No	ClinGen ExAC gnomAD
rs866194598 CA130164927	772	G>V		No	ClinGen Ensembl
CA361977933 rs1240821043	774	R>*		No	ClinGen gnomAD
CA361977934 rs1240821043	774	R>G		No	ClinGen gnomAD
CA361977932 rs1194445214 COSM1435583	774	R>Q	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA130164396 rs957776814	776	V>A		No	ClinGen Ensembl
CA361977650 rs1475378670	777	I>F		No	ClinGen gnomAD
rs1033181558 CA130164390	779	T>A		No	ClinGen Ensembl
rs753240297 CA3534988	779	T>I		No	ClinGen ExAC TOPMed gnomAD
CA3534986 rs755386906	780	P>L	Variant assessed as Somatic; 4.776e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs755386906 CA3534987	780	P>R		No	ClinGen ExAC TOPMed gnomAD
CA130164385 rs953465889	780	P>S		No	ClinGen TOPMed
CA361977614 rs953465889	780	P>T		No	ClinGen TOPMed
CA3534982 rs750581380	782	I>L		No	ClinGen ExAC gnomAD
CA3534983 rs750581380	782	I>V		No	ClinGen ExAC gnomAD
CA361977593 rs1201449719	783	L>P		No	ClinGen gnomAD
rs781236416 CA361977589	784	R>L		No	ClinGen ExAC TOPMed gnomAD
rs781236416 COSM1595183 CA3534980	784	R>Q	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs765378508 CA3534981	784	R>W		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	788	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3534979 rs775486306	788	Q>L		No	ClinGen ExAC TOPMed gnomAD
CA361977564 rs775486306	788	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA361977558 rs1337390194	789	P>H		No	ClinGen gnomAD
rs771837855 CA3534978	790	P>T		No	ClinGen ExAC gnomAD
CA361977548 rs1287198780	791	P>T		No	ClinGen gnomAD
rs138014472 COSM1328951 CA3534974	792	R>Q	ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs574929918 CA3534975	792	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs777329552 CA3534973	794	P>L		No	ClinGen ExAC gnomAD
CA3534972 rs150381064	795	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs879127944 CA130164276	797	Y>D		No	ClinGen Ensembl
CA3534971 rs201060137	797	Y>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	798	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs781726596 CA130164260	798	L>V		No	ClinGen ExAC gnomAD
rs370462690 CA3534969	799	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA3534966 rs200682961	799	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs200682961 CA3534968	799	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs200682961 CA3534967	799	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs1384140225 CA361977464	800	G>R		No	ClinGen TOPMed gnomAD
rs1384140225 CA361977466	800	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1446094511 CA361977448	801	G>E		No	ClinGen TOPMed gnomAD
rs750671383 CA3534965	802	S>C		No	ClinGen ExAC gnomAD
TCGA novel	802	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs753820265 CA130164190	804	P>L		No	ClinGen ExAC gnomAD
rs753820265 CA3534962	804	P>R		No	ClinGen ExAC gnomAD
CA3534963 rs757372648	804	P>S		No	ClinGen ExAC gnomAD
CA3534960 RCV000956337 rs11466802	805	A>T		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA3534959 rs774169834	806	P>L		No	ClinGen ExAC gnomAD
TCGA novel	810	H>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA130164159 rs771017146	811	L>M		No	ClinGen Ensembl
CA3534957 rs372164222	813	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA3534955 rs769260440	814	A>T		No	ClinGen ExAC TOPMed gnomAD
rs775957244 CA3534953	815	A>G		No	ClinGen ExAC gnomAD
rs144596397 CA361977284	815	A>P		No	ClinGen ESP ExAC gnomAD
rs144596397 CA3534954	815	A>T		No	ClinGen ESP ExAC gnomAD
CA3534952 rs769257964	817	N>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs758822859 CA3534949	819	P>L		No	ClinGen ExAC gnomAD
TCGA novel	819	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA361977218 rs1561841078	820	G>R		No	ClinGen Ensembl
rs373628757 CA130164140	821	P>S		No	ClinGen gnomAD
rs201225966 CA3534946	822	G>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
COSM1435581 CA3534947 rs536485712	822	G>R	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA361977151 rs1561841052	825	I>M		No	ClinGen Ensembl
rs754972352 CA3534943	825	I>V		No	ClinGen ExAC gnomAD
CA361977122 rs1561841045	828	T>A		No	ClinGen Ensembl
CA3534942 rs149265280	828	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	828	T>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs35242691 CA3534939 COSM1143738	830	S>*	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs35242691 CA3534940	830	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA130164113 rs35242691	830	S>W		No	ClinGen ExAC TOPMed gnomAD
rs941299600 CA130164073	832	R>M		No	ClinGen TOPMed gnomAD
CA3534937 rs11466803 RCV000892179	834	P>A		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA130164054 rs1026354886	834	P>L		No	ClinGen TOPMed gnomAD
CA361977084 rs1026354886	834	P>R		No	ClinGen TOPMed gnomAD
CA361977086 rs11466803	834	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA361977078 rs1437955761	835	P>L		No	ClinGen TOPMed gnomAD
rs1437955761 CA361977079	835	P>R		No	ClinGen TOPMed gnomAD
rs1273952270 CA361977083	835	P>T		No	ClinGen TOPMed
CA361977076 rs995228035	836	P>S		No	ClinGen TOPMed gnomAD
CA130164036 rs995228035	836	P>T		No	ClinGen TOPMed gnomAD
rs1190633013 COSM1143737 CA361977063	838	R>Q	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs146453088 CA3534935	838	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA361977053 rs1413832242	840	I>V		No	ClinGen gnomAD
rs1159665258 CA361977044	841	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1159665258 CA361977043	841	P>R		No	ClinGen TOPMed gnomAD
rs769171707	843	A>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA130164012 rs199716249	843	A>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs199716249 CA3534932	843	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	844	P>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1427078633 CA361977023	845	N>D		No	ClinGen gnomAD
rs1192901533 CA361977022	845	N>S		No	ClinGen gnomAD
rs772640917 CA3534931	846	C>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA
rs746256335 CA3534930	847	I>V		No	ClinGen ExAC gnomAD
CA3534927 COSM1435579 rs146122567	848	V>I	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA130163969 rs945350516	850	Q>R		No	ClinGen Ensembl
CA3534908 rs777859260	852	F>L		No	ClinGen ExAC gnomAD
CA130157195 rs961221137	853	S>F		No	ClinGen TOPMed gnomAD
rs1427885376 CA361976548	854	R>G		No	ClinGen gnomAD
rs863223367 CA279209 RCV000201334	855	P>S		No	ClinGen ClinVar Ensembl dbSNP
rs556999973 CA361976534	856	R>L		No	ClinGen ExAC TOPMed gnomAD
rs556999973 CA3534906	856	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs769960626 CA3534907	856	R>W		No	ClinGen ExAC TOPMed gnomAD
rs200156820 CA3534905	857	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA361976523 rs1305341738	858	P>L		No	ClinGen TOPMed
rs1184000121 CA361976526	858	P>S		No	ClinGen gnomAD
rs140165939 CA3534903	859	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	860	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3534901 rs757017166	863	P>L		No	ClinGen ExAC gnomAD
TCGA novel	864	A>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1274747853 CA361976490	864	A>T		No	ClinGen gnomAD
rs1244722904 CA361976477	865	N>K		No	ClinGen gnomAD
rs752292916 CA361976472	866	P>L		No	ClinGen ExAC TOPMed gnomAD
CA3534897 rs752292916	866	P>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	869	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs774730214 CA3534893	870	R>C		No	ClinGen ExAC TOPMed gnomAD
CA3534891 rs200828291	870	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA361976451 rs200828291	870	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3534892 rs200828291	870	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	871	R>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs773574626 CA3534890	872	S>R		No	ClinGen ExAC TOPMed gnomAD
rs770053170 CA3534889	873	L>I		No	ClinGen ExAC gnomAD
CA3534888 rs748340381	875	R>S		No	ClinGen ExAC gnomAD
rs1366906550 CA361976411	877	G>*		No	ClinGen gnomAD
rs776762832 CA3534887	877	G>E		No	ClinGen ExAC gnomAD
rs1366906550 CA361976413	877	G>R		No	ClinGen gnomAD
rs1424747131 CA361976408	878	G>S		No	ClinGen gnomAD
CA3534885 rs768709751	880	S>F		No	ClinGen ExAC TOPMed
TCGA novel	881	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs778722685 CA3534883	882	L>M		No	ClinGen ExAC TOPMed gnomAD
rs757180357 CA3534882	882	L>Q		No	ClinGen ExAC gnomAD
rs142986858 CA130157095	883	R>Q		No	ClinGen ESP TOPMed gnomAD
rs147465765 CA3534880	883	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3534879 rs755897653	884	P>T		No	ClinGen ExAC gnomAD
CA130157087 rs773760331	885	P>L		No	ClinGen gnomAD
CA361976373 rs1266827608	885	P>S		No	ClinGen gnomAD
TCGA novel	886	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	887	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1581280753 CA361976358	887	A>V		No	ClinGen Ensembl
CA130157082 rs901842238	889	P>T		No	ClinGen TOPMed
TCGA novel	890	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	890	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3534878 rs752384516	891	Q>*		No	ClinGen ExAC gnomAD
CA361976335 rs1424473839	891	Q>R		No	ClinGen Ensembl
CA3534876 rs542908072	893	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs34145949 CA3534877	893	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA361976319 rs1404393732	894	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1295501634 CA361976308	896	A>E		No	ClinGen gnomAD
rs1388740745 CA361976311	896	A>T		No	ClinGen gnomAD
rs1458610038 CA361976300	897	A>V		No	ClinGen gnomAD
rs1157439299 CA361976293	899	A>S		No	ClinGen TOPMed gnomAD
COSM1595184 rs1157439299 CA361976291	899	A>T	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs61757467 CA130157050	900	P>L		No	ClinGen gnomAD
CA361976283 rs61757467	900	P>R		No	ClinGen gnomAD
CA361976285 rs1473798978	900	P>S		No	ClinGen gnomAD
CA361976281 rs1449369421	901	K>E		No	ClinGen gnomAD
rs1268843791 CA361976278	901	K>R		No	ClinGen gnomAD
rs1242962438 CA361976260	904	P>S		No	ClinGen TOPMed
rs1242962438 CA361976259	904	P>T		No	ClinGen TOPMed
CA361976253 rs1265968106	905	R>Q		No	ClinGen gnomAD
CA3534874 rs766815187	905	R>W		No	ClinGen ExAC TOPMed gnomAD
CA361976250 rs1229972128	906	E>K		No	ClinGen TOPMed gnomAD
CA361976242 rs1561837399	907	A>T		No	ClinGen Ensembl
rs1329672722 CA361976237	907	A>V		No	ClinGen gnomAD
rs1256742713 CA361976228	909	K>*		No	ClinGen TOPMed
rs1331949962 CA361976226	909	K>T		No	ClinGen gnomAD
CA3534872 rs773609989	910	V>G		No	ClinGen ExAC TOPMed gnomAD
rs1303519691 CA361976207	912	A>S		No	ClinGen gnomAD
rs1387523731 CA361976185	915	R>S		No	ClinGen TOPMed gnomAD
CA3534871 rs765585934	916	G>E		No	ClinGen ExAC gnomAD
CA361976184 rs1384486846	916	G>R		No	ClinGen gnomAD
CA130157015 rs896022589	918	Q>H		No	ClinGen TOPMed
CA130157014 rs1057319868	919	G>R		No	ClinGen Ensembl
TCGA novel	920	G>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA130157013 rs929571343	920	G>C		No	ClinGen Ensembl
CA3534870 rs762084338	921	R>T		No	ClinGen ExAC gnomAD
rs898090891 CA130157003	922	C>Y		No	ClinGen gnomAD
rs999598288 CA130156968	923	R>I		No	ClinGen TOPMed gnomAD
rs776853383 CA3534869	924	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1561837343 CA361976085	931	M>V		No	ClinGen Ensembl
CA3534867 rs368149587	934	V>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs775592729 CA3534866	935	V>D		No	ClinGen ExAC TOPMed gnomAD
CA130156939 rs923132989	935	V>F		No	ClinGen Ensembl
rs923132989 CA130156948	935	V>I		No	ClinGen Ensembl
CA361976052 rs1262285113	936	W>L		No	ClinGen TOPMed gnomAD
CA361976046 rs1198605363	937	T>S		No	ClinGen gnomAD
CA130156922 rs1055376505	937	T>S		No	ClinGen TOPMed gnomAD
rs1333792718 CA361976032	939	L>H		No	ClinGen TOPMed
rs1256555773 CA361975997	944	P>S		No	ClinGen gnomAD
CA3534864 rs373954530	946	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA361975982 rs1364620530	946	A>V		No	ClinGen TOPMed gnomAD
CA361975970 rs1243144640	948	H>P		No	ClinGen gnomAD
rs755985728 CA3534862	948	H>Y		No	ClinGen ExAC gnomAD
TCGA novel	949	S>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1561837289 CA361975964	949	S>A		No	ClinGen Ensembl
rs11134767 CA3534860	950	C>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA130156892 rs961086437	951	F>V		No	ClinGen TOPMed gnomAD
rs779421590 CA361975926	955	A>S		No	ClinGen TOPMed gnomAD
rs779421590 CA130156887	955	A>T		No	ClinGen TOPMed gnomAD
CA361975923 rs1461036527	955	A>V		No	ClinGen gnomAD

No associated diseases with Q9H013

2 regional properties for Q9H013

Type	Name	Position	InterPro Accession
conserved_site	Aminoacyl-tRNA synthetase, class I, conserved site	42 - 52	IPR001412
domain	RNA-binding S4 domain	336 - 398	IPR002942

Functions

		Description
EC Number
Subcellular Localization	Membrane; Single-pass type I membrane protein
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

5 GO annotations of cellular component

Name	Definition
collagen-containing extracellular matrix	An extracellular matrix consisting mainly of proteins (especially collagen) and glycosaminoglycans (mostly as proteoglycans) that provides not only essential physical scaffolding for the cellular constituents but can also initiate crucial biochemical and biomechanical cues required for tissue morphogenesis, differentiation and homeostasis. The components are secreted by cells in the vicinity and form a sheet underlying or overlying cells such as endothelial and epithelial cells.
Golgi apparatus	A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways.
integral component of membrane	The component of a 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.
nucleus	A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

4 GO annotations of molecular function

Name	Definition
metal ion binding	Binding to a metal ion.
metalloendopeptidase activity	Catalysis of the hydrolysis of internal, alpha-peptide bonds in a polypeptide chain by a mechanism in which water acts as a nucleophile, one or two metal ions hold the water molecule in place, and charged amino acid side chains are ligands for the metal ions.
metalloendopeptidase activity involved in amyloid precursor protein catabolic process	Any metalloendopeptidase activity that is involved in amyloid precursor protein catabolic process.
SH3 domain binding	Binding to a SH3 domain (Src homology 3) of a protein, small protein modules containing approximately 50 amino acid residues found in a great variety of intracellular or membrane-associated proteins.

6 GO annotations of biological process

Name	Definition
amyloid precursor protein catabolic process	The chemical reactions and pathways resulting in the breakdown of amyloid precursor protein (APP), the precursor of amyloid-beta, a glycoprotein associated with Alzheimer's disease.
membrane protein ectodomain proteolysis	The proteolytic cleavage of transmembrane proteins and release of their ectodomain (extracellular domain).
placenta development	The process whose specific outcome is the progression of the placenta over time, from its formation to the mature structure. The placenta is an organ of metabolic interchange between fetus and mother, partly of embryonic origin and partly of maternal origin.
positive regulation of cell-cell adhesion mediated by cadherin	Any process that activates or increases the frequency, rate or extent of cell-cell adhesion mediated by cadherin.
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).
protein processing	Any protein maturation process achieved by the cleavage of a peptide bond or bonds within a protein. Protein maturation is the process leading to the attainment of the full functional capacity of a protein.

5 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q99965	ADAM2	Disintegrin and metalloproteinase domain-containing protein 2	Homo sapiens (Human)	PR
Q8TC27	ADAM32	Disintegrin and metalloproteinase domain-containing protein 32	Homo sapiens (Human)	PR
O43506	ADAM20	Disintegrin and metalloproteinase domain-containing protein 20	Homo sapiens (Human)	PR
Q9UKF2	ADAM30	Disintegrin and metalloproteinase domain-containing protein 30	Homo sapiens (Human)	PR
O35674	Adam19	Disintegrin and metalloproteinase domain-containing protein 19	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MPGGAGAARL	CLLAFALQPL	RPRAAREPGW	TRGSEEGSPK	LQHELIIPQW	KTSESPVREK
70	80	90	100	110	120
HPLKAELRVM	AEGRELILDL	EKNEQLFAPS	YTETHYTSSG	NPQTTTRKLE	DHCFYHGTVR
130	140	150	160	170	180
ETELSSVTLS	TCRGIRGLIT	VSSNLSYVIE	PLPDSKGQHL	IYRSEHLKPP	PGNCGFEHSK
190	200	210	220	230	240
PTTRDWALQF	TQQTKKRPRR	MKREDLNSMK	YVELYLVADY	LEFQKNRRDQ	DATKHKLIEI
250	260	270	280	290	300
ANYVDKFYRS	LNIRIALVGL	EVWTHGNMCE	VSENPYSTLW	SFLSWRRKLL	AQKYHDNAQL
310	320	330	340	350	360
ITGMSFHGTT	IGLAPLMAMC	SVYQSGGVNM	DHSENAIGVA	ATMAHEMGHN	FGMTHDSADC
370	380	390	400	410	420
CSASAADGGC	IMAAATGHPF	PKVFNGCNRR	ELDRYLQSGG	GMCLSNMPDT	RMLYGGRRCG
430	440	450	460	470	480
NGYLEDGEEC	DCGEEEECNN	PCCNASNCTL	RPGAECAHGS	CCHQCKLLAP	GTLCREQARQ
490	500	510	520	530	540
CDLPEFCTGK	SPHCPTNFYQ	MDGTPCEGGQ	AYCYNGMCLT	YQEQCQQLWG	PGARPAPDLC
550	560	570	580	590	600
FEKVNVAGDT	FGNCGKDMNG	EHRKCNMRDA	KCGKIQCQSS	EARPLESNAV	PIDTTIIMNG
610	620	630	640	650	660
RQIQCRGTHV	YRGPEEEGDM	LDPGLVMTGT	KCGYNHICFE	GQCRNTSFFE	TEGCGKKCNG
670	680	690	700	710	720
HGVCNNNQNC	HCLPGWAPPF	CNTPGHGGSI	DSGPMPPESV	GPVVAGVLVA	ILVLAVLMLM
730	740	750	760	770	780
YYCCRQNNKL	GQLKPSALPS	KLRQQFSCPF	RVSQNSGTGH	ANPTFKLQTP	QGKRKVINTP
790	800	810	820	830	840
EILRKPSQPP	PRPPPDYLRG	GSPPAPLPAH	LSRAARNSPG	PGSQIERTES	SRRPPPSRPI
850	860	870	880	890	900
PPAPNCIVSQ	DFSRPRPPQK	ALPANPVPGR	RSLPRPGGAS	PLRPPGAGPQ	QSRPLAALAP
910	920	930	940	950
KVSPREALKV	KAGTRGLQGG	RCRVEKTKQF	MLLVVWTELP	EQKPRAKHSC	FLVPA