AiPD: Autoinhibited Protein Database

Q6ZQY3

Gene name	GADL1
Protein name	Acidic amino acid decarboxylase GADL1
Names	Aspartate 1-decarboxylase, ADC, HuADC, Cysteine sulfinic acid decarboxylase, CSADC, HuCSADC, Glutamate decarboxylase-like protein 1
Species	Homo sapiens (Human)
KEGG Pathway	hsa:339896
EC number	4.1.1.11: Carboxy-lyases
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-121 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-121 (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 Q6ZQY3

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q6ZQY3-F1	Predicted				AlphaFoldDB

513 variants for Q6ZQY3

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1174790531 CA351813470	2	S>C		No	ClinGen gnomAD
rs1206783125 CA351813463	3	S>G		No	ClinGen TOPMed
rs779929434 CA2294807	3	S>N		No	ClinGen ExAC TOPMed gnomAD
CA351813459 CA71566967 rs373606322	3	S>R		No	ClinGen 1000Genomes ESP TOPMed gnomAD
rs905340558 CA71566964	4	D>H		No	ClinGen TOPMed gnomAD
rs905340558 CA351813457	4	D>Y		No	ClinGen TOPMed gnomAD
rs1463040257 CA351813448	5	S>L		No	ClinGen TOPMed
rs1418691530 CA351813451	5	S>T		No	ClinGen TOPMed
rs1205012841 CA351813440	6	D>E		No	ClinGen gnomAD
rs1024023810 CA71566958	6	D>N		No	ClinGen Ensembl
CA351813438 rs1323876274	7	R>G		No	ClinGen TOPMed gnomAD
CA351813435 rs764418843	7	R>H		No	ClinGen gnomAD
CA71566953 rs764418843	7	R>L		No	ClinGen gnomAD
CA351813437 rs1323876274	7	R>S		No	ClinGen TOPMed gnomAD
rs1320655857 CA351813420	9	C>F		No	ClinGen TOPMed
CA351813410 rs1318451641	11	V>L		No	ClinGen gnomAD
TCGA novel	12	D>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs567212234 CA2294804	13	G>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2294805 rs567212234	13	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA71533460 rs922363876	15	I>T		No	ClinGen TOPMed gnomAD
rs1385940564 CA351813353	16	D>E		No	ClinGen gnomAD
rs918638427 CA71533455	16	D>G		No	ClinGen TOPMed gnomAD
TCGA novel	19	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1288716141 CA351813322 CA351813320	20	M>I		No	ClinGen TOPMed gnomAD
rs1254017010 CA351813313	21	I>M		No	ClinGen TOPMed
CA351813318 rs1452038017	21	I>V		No	ClinGen gnomAD
CA2294794 rs750092669	22	P>S		No	ClinGen ExAC gnomAD
rs1393746 CA71533421	24	K>N		No	ClinGen Ensembl
rs1181207436 CA351813271	27	A>V		No	ClinGen gnomAD
rs1429987192 CA351813258	30	V>M		No	ClinGen gnomAD
rs1261964623 CA351813251	31	D>H		No	ClinGen TOPMed gnomAD
rs1261964623 CA351813252	31	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1416444839 CA351813232	34	V>L		No	ClinGen TOPMed
rs975104019 CA71533376	37	G>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA2294791 rs765036979	45	G>V		No	ClinGen ExAC gnomAD
CA71533357 rs949189247	48	F>C		No	ClinGen TOPMed gnomAD
rs776285213 CA2294789	49	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1328784751 CA351813118	51	E>G		No	ClinGen TOPMed
rs774661283 CA71533315	51	E>K		No	ClinGen Ensembl
CA351813111 rs767395909	52	A>D		No	ClinGen ExAC TOPMed gnomAD
CA2294787 rs767395909	52	A>G		No	ClinGen ExAC TOPMed gnomAD
CA2294788 rs768672462	52	A>T		No	ClinGen ExAC gnomAD
rs1274991035 CA351813107	53	C>Y		No	ClinGen TOPMed
rs563344584 CA71533258	54	R>G		No	ClinGen 1000Genomes gnomAD
CA351813100 rs1463040364	54	R>K		No	ClinGen gnomAD
CA71533237 rs925584812	55	L>P		No	ClinGen TOPMed gnomAD
rs536513873 CA71533228	57	M>I		No	ClinGen Ensembl
CA351813085 rs1191969746	57	M>V		No	ClinGen gnomAD
CA351813073 rs1225779616	58	E>G		No	ClinGen TOPMed
CA351813051 rs1575238631	61	V>G		No	ClinGen Ensembl
rs771871292 CA2294784	61	V>I		No	ClinGen ExAC gnomAD
CA351813037 COSM4149843 rs1199876422	63	K>N	ovary [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA351813034 rs1188638235	64	A>T		No	ClinGen Ensembl
CA351813030 rs1341931323	64	A>V		No	ClinGen TOPMed
rs745716817 CA2294783	65	T>A		No	ClinGen ExAC TOPMed gnomAD
rs1336239689 CA351813024	66	D>N		No	ClinGen TOPMed gnomAD
rs1289479426 CA351813014	67	V>F		No	ClinGen gnomAD
CA351813000 rs1197661430	69	E>*		No	ClinGen TOPMed gnomAD
CA351812992 rs1340095523	70	K>*		No	ClinGen gnomAD
CA351812972 rs1281797088	71	V>L		No	ClinGen gnomAD
rs1575236874 CA351812960	73	E>K		No	ClinGen Ensembl
CA351812938 CA71528962 rs750549374	75	R>S		No	ClinGen TOPMed gnomAD
rs1327670170 CA351812937	76	P>T		No	ClinGen TOPMed gnomAD
CA71528928 rs538681115	79	Q>R		No	ClinGen Ensembl
rs575389642 CA2294775	81	K>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs936125546 CA71528898	82	Q>H		No	ClinGen TOPMed gnomAD
rs1422714419 CA351812884	84	L>V		No	ClinGen gnomAD
CA351812874 rs1160080885	85	D>V		No	ClinGen gnomAD
rs1176894742 CA351812850	88	M>I		No	ClinGen TOPMed gnomAD
CA71528888 rs926030184	88	M>V		No	ClinGen TOPMed gnomAD
CA2294774 rs368855107	89	R>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs368855107 CA71528874	89	R>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs555181893 CA2294773	90	D>H		No	ClinGen 1000Genomes ExAC gnomAD
rs555181893 CA351812843	90	D>N		No	ClinGen 1000Genomes ExAC gnomAD
rs555181893 CA351812842	90	D>Y		No	ClinGen 1000Genomes ExAC gnomAD
rs1203208815 CA351812827	92	G>D		No	ClinGen gnomAD
CA2294771 rs184032563	93	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2294770 rs145794576	95	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs145794576 CA71528836	95	P>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA351812764 rs1237365582	102	C>R		No	ClinGen gnomAD
CA351812760 rs1384289687	102	C>Y		No	ClinGen gnomAD
CA351812755 rs539785730	103	R>L		No	ClinGen 1000Genomes TOPMed gnomAD
CA71528807 rs539785730 COSM1422354	103	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes NCI-TCGA TOPMed gnomAD
CA2294769 rs760144442	103	R>W		No	ClinGen ExAC TOPMed gnomAD
rs767414167 CA71528787	104	D>G		No	ClinGen ExAC gnomAD
rs775494857 CA351812754	104	D>N		No	ClinGen ExAC TOPMed
rs767414167 CA2294767	104	D>V		No	ClinGen ExAC gnomAD
CA2294768 rs775494857	104	D>Y		No	ClinGen ExAC TOPMed
rs891262170 CA71528779	107	H>Y		No	ClinGen TOPMed gnomAD
rs1445110450 CA351812725	108	Y>C		No	ClinGen TOPMed
CA351812728 rs1255251110	108	Y>H		No	ClinGen TOPMed
rs1378452234 CA351812718	109	S>N		No	ClinGen TOPMed
rs1446539433 CA351812719	109	S>R		No	ClinGen gnomAD
rs770926872 CA71528772	111	K>E		No	ClinGen TOPMed gnomAD
CA351812699 rs1183063227	112	T>A		No	ClinGen gnomAD
rs901892535 CA71526458	113	N>S		No	ClinGen TOPMed gnomAD
CA351812677 rs183950251	114	H>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA351812674 rs1559362028	114	H>R		No	ClinGen Ensembl
CA2294752 rs183950251	114	H>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1488409872 CA351812663	116	R>*		No	ClinGen TOPMed gnomAD
CA351812660 rs1559362021	116	R>I		No	ClinGen Ensembl
rs556756646 CA71526404	121	L>S		No	ClinGen 1000Genomes TOPMed
CA351812622 rs556756646	121	L>W		No	ClinGen 1000Genomes TOPMed
CA2294750 rs779442134	125	L>F		No	ClinGen ExAC gnomAD
CA71526379 rs915045716	126	D>G		No	ClinGen TOPMed gnomAD
rs911125288 CA71526381	126	D>Y		No	ClinGen Ensembl
CA71526356 rs956610187	129	S>F		No	ClinGen TOPMed
rs1406524661 CA351812572	129	S>T		No	ClinGen gnomAD
CA351812557 rs1302428000	131	V>E		No	ClinGen gnomAD
rs753510503 CA2294748	132	A>T		No	ClinGen ExAC gnomAD
rs763720774 CA2294747	133	R>*		No	ClinGen ExAC TOPMed gnomAD
CA351812546 rs1409667154	133	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1173138239 CA351812544	134	F>L		No	ClinGen TOPMed
CA71526302 rs558287526	135	M>I		No	ClinGen TOPMed gnomAD
CA351812526 rs1179077937	136	T>N		No	ClinGen gnomAD
rs947175392 CA71526267	137	E>*		No	ClinGen TOPMed gnomAD
rs947175392 CA71526276	137	E>K	Variant assessed as Somatic; 5.94e-05 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs372478514 CA2294746	138	A>T		No	ClinGen ESP ExAC gnomAD
rs200741113 CA71526237	141	P>L		No	ClinGen gnomAD
CA2294745 rs751309648	141	P>T		No	ClinGen ExAC TOPMed gnomAD
CA351812488 rs1457084015	142	S>I		No	ClinGen gnomAD
CA71526236 rs1004909006	143	V>A		No	ClinGen TOPMed
CA71522415 rs896348259	145	T>M		No	ClinGen TOPMed gnomAD
CA351812455 rs1317429842	146	Y>N		No	ClinGen TOPMed gnomAD
CA351812446 rs1453741979	147	E>Q		No	ClinGen gnomAD
CA71522403 rs575102746	148	V>E		No	ClinGen 1000Genomes
rs1339432602 CA351812439	148	V>M		No	ClinGen TOPMed
CA71522397 rs1034808644	150	P>L		No	ClinGen TOPMed
TCGA novel	150	P>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1559361016 CA351812401	154	L>S		No	ClinGen Ensembl
rs1361974702 CA351812393	155	V>A		No	ClinGen TOPMed
rs1405610398 CA351812396	155	V>M		No	ClinGen gnomAD
CA351812372 rs1001938718	158	A>E		No	ClinGen TOPMed gnomAD
CA71522394 rs1001938718	158	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs969129949 CA71522370	159	V>F		No	ClinGen TOPMed
TCGA novel	160	L>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA351812356 rs1418577876	161	K>R		No	ClinGen gnomAD
CA351812319 rs1245238483	166	F>L		No	ClinGen TOPMed
CA351812288 rs1157809659	168	G>V		No	ClinGen TOPMed
rs768771783 CA2294738	170	K>E		No	ClinGen ExAC gnomAD
rs1380749651 CA351812250	171	E>Q		No	ClinGen TOPMed
CA2294737 rs760740844	173	D>G		No	ClinGen ExAC gnomAD
rs1261251037 CA351812199	174	G>V		No	ClinGen gnomAD
CA351812175 rs1351410456	176	F>C		No	ClinGen gnomAD
rs1168689550 CA351812147	178	P>Q		No	ClinGen Ensembl
CA351812067 rs750186035	179	G>A		No	ClinGen ExAC TOPMed gnomAD
rs750186035 CA2294719	179	G>V		No	ClinGen ExAC TOPMed gnomAD
rs1295076616 CA351812062	180	G>S		No	ClinGen TOPMed gnomAD
rs1304227160 CA351812055	180	G>V		No	ClinGen gnomAD
rs1389303289 CA351812040	182	V>M		No	ClinGen gnomAD
CA2294717 rs760827851	183	S>P		No	ClinGen ExAC TOPMed gnomAD
CA351812020 rs1423871532	184	N>D		No	ClinGen gnomAD
rs376006112 CA2294715	185	M>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA2294716 rs776968621	185	M>T		No	ClinGen ExAC TOPMed gnomAD
CA71521368 rs1043642158	185	M>V		No	ClinGen TOPMed
CA71521361 rs557163401	186	Y>*		No	ClinGen Ensembl
CA2294714 rs759757786	187	A>T		No	ClinGen ExAC gnomAD
rs1199993136 CA351811958	188	M>I		No	ClinGen gnomAD
rs774986180 CA2294713	189	N>S		No	ClinGen ExAC gnomAD
CA351811934 rs1197617787	190	L>*		No	ClinGen gnomAD
rs1265445272 CA351811937	190	L>I		No	ClinGen gnomAD
CA351811918 rs1257615629	191	A>G		No	ClinGen gnomAD
rs1481103697 CA351811924	191	A>P		No	ClinGen gnomAD
rs1217204121 CA351811906	192	R>K		No	ClinGen gnomAD
CA2294712 rs201894799	193	Y>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1329841710 CA351811854	196	C>R		No	ClinGen TOPMed gnomAD
rs778033743 CA351811851	196	C>S		No	ClinGen ExAC gnomAD
CA2294710 rs778033743	196	C>Y		No	ClinGen ExAC gnomAD
rs1400617903 CA351811823	198	D>A		No	ClinGen gnomAD
CA351811814 rs1330211380	199	I>V		No	ClinGen gnomAD
CA2294708 rs369633351	200	K>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs754467804 CA2294706	201	E>*		No	ClinGen ExAC TOPMed gnomAD
rs754467804 CA351811785	201	E>Q		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	202	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1375827421 CA351811755	203	G>R		No	ClinGen gnomAD
rs1184112210 COSM4149841 CA351811745	203	G>V	ovary [Cosmic]	No	ClinGen cosmic curated gnomAD
rs146157052 CA2294699	206	G>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs200806904 CA2294703	206	G>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200806904 CA2294702	206	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2294701 rs200806904	206	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs146157052 CA2294700	206	G>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2294697 rs145687365	207	S>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs145687365 CA2294698	207	S>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs555228456 CA2294694	209	R>S		No	ClinGen 1000Genomes ExAC gnomAD
rs773822181 CA2294693	210	L>*		No	ClinGen ExAC gnomAD
rs770026594 CA2294692	213	F>I		No	ClinGen ExAC gnomAD
rs1297035668 CA351811636	213	F>Y		No	ClinGen TOPMed
rs535308299 CA2294691	215	S>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA71521151 rs865905985	216	A>T		No	ClinGen Ensembl
rs199738252 CA2294690	217	E>G		No	ClinGen 1000Genomes ExAC
rs1160625167 CA351811583	218	C>Y		No	ClinGen TOPMed
CA2294668 rs768247183	219	H>L		No	ClinGen ExAC gnomAD
rs1244264370 CA351811576	219	H>Y		No	ClinGen gnomAD
rs746639627 CA2294667	220	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs746639627 CA351811567	220	Y>F		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	221	S>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2294666 rs775162663	221	S>C		No	ClinGen ExAC TOPMed gnomAD
rs771478026 CA2294665	222	M>R		No	ClinGen ExAC gnomAD
CA351811547 rs1334634691	223	K>R		No	ClinGen TOPMed
CA2294664 rs745441878	225	A>V		No	ClinGen ExAC TOPMed gnomAD
CA351811522 rs1218979435	227	S>A		No	ClinGen gnomAD
rs1250817680 CA351811519	227	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA351811518 rs1339797803	228	F>L		No	ClinGen gnomAD
CA2294662 rs535064765	229	L>F		No	ClinGen 1000Genomes ExAC gnomAD
CA351811495 rs1350476215	231	I>T		No	ClinGen gnomAD
rs773188710 CA2294660	232	G>D		No	ClinGen ExAC TOPMed gnomAD
rs1421891618 CA351811487	233	T>A		No	ClinGen gnomAD
rs368108658 CA71514681	235	N>D		No	ClinGen ESP TOPMed gnomAD
TCGA novel	236	V>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA351811448 rs1218986455	238	F>S		No	ClinGen TOPMed
CA2294657 rs751804637	240	E>V		No	ClinGen ExAC gnomAD
rs750517523 CA2294655	242	D>E		No	ClinGen ExAC TOPMed gnomAD
CA351811421 rs780494023	242	D>G		No	ClinGen ExAC TOPMed gnomAD
CA2294656 rs780494023	242	D>V		No	ClinGen ExAC TOPMed gnomAD
CA351811375 rs1359116959	247	M>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1249914340 CA351811352	250	E>D		No	ClinGen TOPMed gnomAD
rs1199785367 CA351811356	250	E>G		No	ClinGen TOPMed
rs144521116 CA2294626	251	E>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1178702168 CA351811342	252	L>Q		No	ClinGen TOPMed gnomAD
CA351811340 rs1178702168	252	L>R		No	ClinGen TOPMed gnomAD
rs371188898 CA71514355	253	E>A		No	ClinGen ESP TOPMed
CA351811338 rs1438753165	253	E>Q		No	ClinGen gnomAD
rs762622976 CA2294624	254	K>T		No	ClinGen ExAC gnomAD
CA2294623 rs773273406	255	Q>P		No	ClinGen ExAC gnomAD
rs773273406 CA351811321	255	Q>R		No	ClinGen ExAC gnomAD
CA2294622 rs769855228	256	V>A		No	ClinGen ExAC gnomAD
CA71514335 rs866468399	256	V>I		No	ClinGen Ensembl
CA351811309 rs1208014655	257	W>*		No	ClinGen TOPMed gnomAD
CA351811311 rs1208014655	257	W>L		No	ClinGen TOPMed gnomAD
CA71514311 rs909592162	258	Q>E		No	ClinGen Ensembl
rs367699131 CA2294621	258	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA351811303 rs1325042211	258	Q>P		No	ClinGen TOPMed
CA2294620 rs781060837	259	A>D		No	ClinGen ExAC gnomAD
CA351811297 rs1398532642	259	A>S		No	ClinGen TOPMed
CA2294618 rs746070023	261	K>R		No	ClinGen ExAC TOPMed gnomAD
rs1559358939 CA351811274	262	E>D		No	ClinGen Ensembl
CA351811279 rs1264222220	262	E>Q		No	ClinGen TOPMed
rs750146052	263	G>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs973839312 CA71508054	263	G>A		No	ClinGen TOPMed gnomAD
rs973839312 CA351811259	263	G>E		No	ClinGen TOPMed gnomAD
rs1015089164 CA71508051	264	A>T		No	ClinGen TOPMed
TCGA novel	265	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs373530020 CA2294576	266	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs373530020 CA2294577	266	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1318970544 CA351811234	268	L>I		No	ClinGen gnomAD
CA351811224 rs1277954409	269	V>A		No	ClinGen TOPMed gnomAD
CA2294574 rs546361572	269	V>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1394348005 CA351811222	270	C>R		No	ClinGen TOPMed
rs918735464 CA71507998	271	A>V		No	ClinGen TOPMed gnomAD
rs375319785 CA2294571 COSM1670032	272	T>I	lung [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA351811200 rs1393704537	273	S>F		No	ClinGen TOPMed
CA2294568 rs773465094	274	G>D		No	ClinGen ExAC gnomAD
rs371470665 CA2294569	274	G>S		No	ClinGen ESP ExAC gnomAD
CA2294567 rs769862911	275	T>I		No	ClinGen ExAC TOPMed gnomAD
rs1187579352 CA351811187	276	T>S		No	ClinGen TOPMed gnomAD
rs1484813948 CA351811180	277	V>A		No	ClinGen gnomAD
CA351811182 rs1474415169	277	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
TCGA novel	277	V>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2294565 rs201529950	279	G>E		No	ClinGen 1000Genomes ExAC gnomAD
CA351811164 rs747346554	280	A>D		No	ClinGen ExAC gnomAD
rs769052065 CA2294564	280	A>T		No	ClinGen ExAC TOPMed gnomAD
rs747346554 CA2294563	280	A>V		No	ClinGen ExAC gnomAD
rs1180674710 CA351811148	282	D>E		No	ClinGen TOPMed gnomAD
CA351811145 rs1458370411	283	P>A		No	ClinGen TOPMed gnomAD
CA351811141 rs1485516706	283	P>L		No	ClinGen gnomAD
CA2294562 rs780540755	284	L>P		No	ClinGen ExAC gnomAD
rs1257820646 CA351811110	288	A>V		No	ClinGen TOPMed
rs1001950487 CA71507947	289	D>E		No	ClinGen TOPMed
rs1274036390 CA351811099	290	I>F		No	ClinGen TOPMed
rs758871737 CA2294560	291	C>Y		No	ClinGen ExAC gnomAD
rs115154257 CA2294558	292	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs756732384 CA2294557	293	R>S		No	ClinGen ExAC gnomAD
rs753292575 CA2294556	295	S>I		No	ClinGen ExAC gnomAD
CA351811056 rs1448610408	296	L>F		No	ClinGen TOPMed gnomAD
rs372486250 CA2294555	298	L>F		No	ClinGen ExAC TOPMed gnomAD
CA351811034 rs1330476174	299	H>R		No	ClinGen gnomAD
CA71507900 rs1022659522	300	V>A		No	ClinGen Ensembl
CA71507903 rs370674276	300	V>I		No	ClinGen ESP
CA71507898 rs141427346	301	D>A		No	ClinGen ESP ExAC gnomAD
CA351811022 rs1173035252	301	D>E		No	ClinGen gnomAD
rs141427346 CA2294554	301	D>V		No	ClinGen ESP ExAC gnomAD
CA2294534 rs752615282	302	A>P		No	ClinGen ExAC TOPMed gnomAD
CA351810992 rs1265927628 CA351810990	304	W>C		No	ClinGen TOPMed gnomAD
CA2294532 rs759593970	305	G>D		No	ClinGen ExAC TOPMed gnomAD
rs868631584 CA351810989	305	G>R		No	ClinGen Ensembl
rs868631584 CA71559748	305	G>S		No	ClinGen Ensembl
CA71559730 rs759593970	305	G>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1488300195 COSM3940483 CA351810973	308	A>T	oesophagus [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1474359207 CA351810966	309	L>*		No	ClinGen gnomAD
CA2294531 rs751365275	311	S>*		No	ClinGen ExAC TOPMed gnomAD
rs751365275 CA351810948	311	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1284877098 CA351810951	311	S>P	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1369572539 CA351810932	314	H>N		No	ClinGen TOPMed
CA351810928 rs776965111	314	H>P		No	ClinGen ExAC gnomAD
CA71559724 rs963368162	314	H>Q		No	ClinGen TOPMed gnomAD
CA2294528 rs776965111	314	H>R		No	ClinGen ExAC gnomAD
rs577665623 CA2294527	315	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
COSM1154135 rs145400754 CA2294526	315	R>H	endometrium [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA351810923 rs145400754	315	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	315	R>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs772720492 CA2294524	316	K>E		No	ClinGen ExAC gnomAD
CA351810920 rs1407344298	316	K>R		No	ClinGen gnomAD
rs1259374582 CA351810913	317	L>F		No	ClinGen TOPMed gnomAD
CA71559707 rs1016898708	317	L>H		No	ClinGen Ensembl
rs1391685322 CA351810901	319	H>R		No	ClinGen gnomAD
rs746186787 CA71559693	320	G>D		No	ClinGen ExAC gnomAD
rs746186787 CA2294523	320	G>V		No	ClinGen ExAC gnomAD
rs771366350 CA2294521	323	R>K		No	ClinGen ExAC TOPMed gnomAD
rs771366350 CA351810876	323	R>T		No	ClinGen ExAC TOPMed gnomAD
rs149285387 CA2294522	323	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA71559404 rs1005268130	325	D>N		No	ClinGen TOPMed
rs775734999 CA2294506	328	A>V		No	ClinGen ExAC gnomAD
rs150289306 CA351810826	329	W>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA2294502 rs150289306	329	W>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA2294504 rs760088668	329	W>G		No	ClinGen ExAC gnomAD
CA2294503 rs774970937	329	W>L		No	ClinGen ExAC gnomAD
rs1274334432 CA351810815	331	P>L		No	ClinGen gnomAD
rs749726159 CA2294501	331	P>S		No	ClinGen ExAC gnomAD
rs772671014 CA2294500	332	H>Y		No	ClinGen ExAC gnomAD
rs769447397 CA2294499	333	K>R		No	ClinGen ExAC gnomAD
CA351810792 rs1303669598	334	M>I		No	ClinGen TOPMed
rs1332496014 CA351810796	334	M>L		No	ClinGen gnomAD
rs1447636376 CA351810794	334	M>T		No	ClinGen TOPMed
rs747604382 CA2294498	335	L>P		No	ClinGen ExAC gnomAD
rs1357086768 CA351810779	336	M>I		No	ClinGen TOPMed
rs1287585308 CA351810773	337	A>D		No	ClinGen TOPMed
rs780707845 CA2294497	337	A>T		No	ClinGen ExAC TOPMed gnomAD
CA2294495 rs148768763	341	C>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs780108665 CA2294494	342	C>R		No	ClinGen ExAC TOPMed gnomAD
CA351810741 rs1311231970	342	C>Y		No	ClinGen TOPMed
rs1452227785 CA351810720	345	L>P		No	ClinGen gnomAD
rs750248615 CA2294492	347	K>E		No	ClinGen ExAC gnomAD
TCGA novel	348	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA71559306 rs866666658	350	S>F		No	ClinGen Ensembl
rs1398689017 CA351810689	350	S>T		No	ClinGen TOPMed gnomAD
TCGA novel	351	D>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1315319354 CA351810661	352	L>F		No	ClinGen gnomAD
rs1329021570 CA351810655	353	L>F		No	ClinGen TOPMed
rs1232144034 CA351810653	353	L>P		No	ClinGen TOPMed
CA2294469 rs73061102	358	S>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA351810616 rs73061102	358	S>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2294468 rs757167467	361	A>T		No	ClinGen ExAC gnomAD
rs201116887 CA71526990	362	S>P		No	ClinGen TOPMed gnomAD
rs1482991621 CA351810583	363	Y>*		No	ClinGen TOPMed
CA2294467 rs752953107	364	L>F		No	ClinGen ExAC gnomAD
rs1417080721 CA351810564	366	Q>H		No	ClinGen gnomAD
CA2294466 rs146398609	366	Q>P	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
CA2294465 rs146398609	366	Q>R		No	ClinGen ESP ExAC gnomAD
CA2294464 rs554467571	367	Q>H		No	ClinGen 1000Genomes ExAC gnomAD
rs766744682 CA2294463	368	D>N		No	ClinGen ExAC gnomAD
CA351810529 rs1575212028	371	Y>C		No	ClinGen Ensembl
CA2294462 rs61738477	372	D>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA351810516 rs1204599526	373	V>M		No	ClinGen gnomAD
CA2294460 rs79295641	374	S>N		No	ClinGen 1000Genomes ExAC gnomAD
CA71526893 rs765577612	374	S>R		No	ClinGen ExAC TOPMed gnomAD
rs201169598 CA2294458	375	Y>C		No	ClinGen 1000Genomes ExAC gnomAD
rs768312810 CA2294456	377	T>A		No	ClinGen ExAC gnomAD
CA71526870 rs867247230	377	T>I		No	ClinGen gnomAD
rs867247230 CA351810488	377	T>R		No	ClinGen gnomAD
CA2294453 rs771523017	379	D>E		No	ClinGen ExAC TOPMed gnomAD
rs1391050956 CA351810478	379	D>G		No	ClinGen gnomAD
rs775097826 CA2294454	379	D>H		No	ClinGen ExAC gnomAD
CA351810465 rs1461629831	381	S>A		No	ClinGen gnomAD
CA71526833 rs759000140	381	S>C		No	ClinGen Ensembl
CA2294451 rs201637975	382	I>V		No	ClinGen 1000Genomes ExAC gnomAD
rs779050948 CA2294450	384	C>R		No	ClinGen ExAC gnomAD
rs1424192367 CA351810426	387	R>G		No	ClinGen gnomAD
rs1053185420 CA71526813	387	R>S		No	ClinGen TOPMed
rs1192601717 CA351810416	388	P>Q		No	ClinGen gnomAD
rs749098468 CA2294448	390	A>T		No	ClinGen ExAC gnomAD
rs1192052314 CA351810402	390	A>V		No	ClinGen gnomAD
rs138812661 CA2294447	391	F>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA351810389 rs1200882873	392	K>M		No	ClinGen gnomAD
CA2294446 rs780428146	395	M>V		No	ClinGen ExAC gnomAD
rs1251183881 CA351810358	396	T>N		No	ClinGen gnomAD
rs751550063 CA71526780	397	W>G		No	ClinGen ExAC TOPMed gnomAD
rs751550063 CA2294445 CA351810355	397	W>R		No	ClinGen ExAC TOPMed gnomAD
CA2294444 rs780147431	398	K>R		No	ClinGen ExAC gnomAD
rs549798526 CA2294442	399	A>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2294443 rs749712461	399	A>T		No	ClinGen ExAC gnomAD
rs549798526 CA71526753	399	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs948769817 CA71526746	400	L>Q		No	ClinGen TOPMed
rs1323672442 CA351810331	401	G>A		No	ClinGen gnomAD
rs762111432 CA351810333	401	G>C		No	ClinGen ExAC gnomAD
rs762111432 CA2294440	401	G>R		No	ClinGen ExAC gnomAD
rs1448669772 CA351810328	402	T>A		No	ClinGen gnomAD
rs1372648896 CA351810322	403	L>V		No	ClinGen TOPMed
CA351810286 rs1460389935	408	R>K	Variant assessed as Somatic; 4.755e-05 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA351810283 rs1379511067 COSM1670030	408	R>S	central_nervous_system [Cosmic]	No	ClinGen cosmic curated gnomAD
rs146013145 CA2294438	409	V>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs1559503702 CA351810281	409	V>I		No	ClinGen Ensembl
rs138172857 CA71526698	411	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA TOPMed gnomAD
rs530115326 CA2294436	411	R>H		No	ClinGen 1000Genomes ExAC gnomAD
CA2294435 rs775055267	412	A>S		No	ClinGen ExAC TOPMed gnomAD
rs145482828 CA2294434	412	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA351810260 rs1250246355	413	L>F		No	ClinGen gnomAD
rs759035619 CA2294433	413	L>P		No	ClinGen ExAC gnomAD
rs866207825 CA71526675	414	A>S		No	ClinGen gnomAD
rs1257298779 CA351810251	414	A>V		No	ClinGen TOPMed gnomAD
rs771004854 CA2294430 CA351810245	415	L>F		No	ClinGen ExAC TOPMed gnomAD
CA351810195 rs1449263080	419	L>P		No	ClinGen gnomAD
CA351810197 rs1201001668	419	L>V		No	ClinGen TOPMed
CA2294370 rs745910253	420	V>A		No	ClinGen ExAC TOPMed gnomAD
CA2294368 rs1553638992	421	D>G		No	ClinGen Ensembl
CA351810187 rs1285622393	421	D>H		No	ClinGen gnomAD
rs1553638992 CA351810184	421	D>V		No	ClinGen Ensembl
CA351810186 rs1285622393	421	D>Y		No	ClinGen gnomAD
CA351810179 rs1407281630	422	E>*		No	ClinGen gnomAD
rs757377092 CA2294366	425	K>R		No	ClinGen ExAC gnomAD
CA2294365 rs542092421	426	R>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1423985555 CA351810147	426	R>S		No	ClinGen TOPMed
CA351810149 rs542092421	426	R>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs762178779 CA71512457	427	E>K		No	ClinGen TOPMed gnomAD
rs778209588 COSM1149721 CA2294364	428	G>R	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs753014937 TCGA novel CA2294361	433	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen ExAC gnomAD
CA2294362 rs756434773	433	M>T		No	ClinGen ExAC gnomAD
rs767147995 CA2294360	434	E>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs752816795 CA71503525	435	P>S		No	ClinGen TOPMed gnomAD
CA71503526 rs752816795	435	P>T		No	ClinGen TOPMed gnomAD
CA351810074 rs1442186006	436	E>*		No	ClinGen gnomAD
CA351810055 rs1164927554	438	A>G		No	ClinGen gnomAD
CA351810057 rs143542109	438	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2294340 rs143542109	438	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1326320440 CA351810049	439	N>S		No	ClinGen gnomAD
CA2294339 rs778283545	443	W>*		No	ClinGen ExAC gnomAD
CA351810021 rs1435971017	443	W>R		No	ClinGen gnomAD
rs904964473 CA71503485	444	Y>C		No	ClinGen Ensembl
rs1219854403 CA351810006	445	I>V		No	ClinGen TOPMed
rs770223371 CA2294338	447	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA351809987 rs1409940078	448	S>C		No	ClinGen gnomAD
rs757345337 CA351809983 COSM1154133	448	S>R	endometrium [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA71503460 rs370853203	449	L>V		No	ClinGen ESP TOPMed gnomAD
rs376214137 CA351809974	450	R>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs376214137 CA2294336	450	R>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA2294334 rs751239980	452	M>L		No	ClinGen ExAC gnomAD
rs757927969 CA2294331	455	G>A		No	ClinGen ExAC gnomAD
CA2294332 rs779859861	455	G>R		No	ClinGen ExAC gnomAD
CA71503419 rs779370919	456	P>H		No	ClinGen Ensembl
CA351809924 rs1575200521	457	E>D		No	ClinGen Ensembl
rs145224145 COSM3765077 CA2294328	457	E>K	Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA351809921 rs1415922586	458	F>L		No	ClinGen TOPMed gnomAD
rs1311709436 CA351809904	460	A>E		No	ClinGen gnomAD
CA71503383 rs184767550	460	A>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2294327 rs184767550	460	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA71503358 rs757947294	463	N>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA
rs757947294 CA2294326	463	N>H		No	ClinGen ExAC
CA2294324 rs200406971	463	N>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA351812296 rs1575175563	465	V>G		No	ClinGen Ensembl
rs755844299 CA351812304 CA2294292	465	V>L		No	ClinGen ExAC gnomAD
rs957194369 CA71519181	466	A>P		No	ClinGen Ensembl
rs1295662775 CA351812285	466	A>V		No	ClinGen gnomAD
rs368666232 CA2294290	467	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs763050903 CA2294289	470	K>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA71519172 rs973459694	470	K>R		No	ClinGen Ensembl
TCGA novel	471	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1222170488 CA351812215 COSM1692502	472	R>K	skin [Cosmic]	No	ClinGen cosmic curated TOPMed
rs201974837 CA71519164	474	M>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2294287 rs765215969	474	M>R		No	ClinGen ExAC gnomAD
rs201974837 CA2294288	474	M>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2294285 rs148714643	477	G>R		No	ClinGen ESP ExAC gnomAD
rs747341770 CA2294283	482	G>R		No	ClinGen ExAC gnomAD
rs747341770 CA71519154	482	G>S		No	ClinGen ExAC gnomAD
CA351812092 rs1397073227	483	Y>C		No	ClinGen gnomAD
rs775969862 CA2294282	483	Y>N		No	ClinGen ExAC gnomAD
CA351812093 rs1397073227	483	Y>S		No	ClinGen gnomAD
rs745494042 CA2294280	485	P>L		No	ClinGen ExAC TOPMed gnomAD
rs745494042 CA71519105	485	P>Q		No	ClinGen ExAC TOPMed gnomAD
rs144252169 CA2294281	485	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA351812063 rs1481226754	486	H>Q		No	ClinGen gnomAD
rs1004139181 CA71519082	486	H>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA351812074 rs1198145778	486	H>Y		No	ClinGen gnomAD
CA2294278 rs756657458	487	R>G		No	ClinGen ExAC TOPMed gnomAD
CA2294277 rs62636627	487	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs756657458 CA71519078	487	R>W		No	ClinGen ExAC TOPMed gnomAD
COSM1692500 CA71519046 rs867632772	488	G>E	skin [Cosmic]	No	ClinGen cosmic curated TOPMed
rs867632772 CA71519040	488	G>V		No	ClinGen TOPMed
rs867269290 CA71519031	489	K>*		No	ClinGen Ensembl
CA2294275 rs752670417	489	K>N		No	ClinGen ExAC TOPMed gnomAD
CA2294276 rs777637585	489	K>R		No	ClinGen ExAC TOPMed gnomAD
CA351812025 rs1234559302	490	V>G		No	ClinGen TOPMed gnomAD
CA71519003 rs111590277	490	V>L		No	ClinGen Ensembl
rs754856307 CA2294272	491	N>S		No	ClinGen ExAC gnomAD
CA2294273 rs754856307	491	N>T		No	ClinGen ExAC gnomAD
CA2294271 rs750604147	494	R>C		No	ClinGen ExAC TOPMed gnomAD
CA2294269 rs62636628	494	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2294270 rs62636628	494	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs776884931 CA2294268	496	V>G		No	ClinGen ExAC gnomAD
CA2294267 rs764313488	498	I>T		No	ClinGen ExAC gnomAD
TCGA novel	499	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA351811909 rs1221438410	499	S>R		No	ClinGen TOPMed
rs761245778 CA2294266	500	P>A		No	ClinGen ExAC gnomAD
rs1293830181 CA351811893	501	Q>E		No	ClinGen TOPMed
rs772320163 CA2294264	503	S>C		No	ClinGen ExAC TOPMed gnomAD
rs746250558 CA71518855	504	R>G		No	ClinGen ExAC TOPMed gnomAD
rs370176334 CA2294262	504	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA2294263 rs746250558	504	R>W		No	ClinGen ExAC TOPMed gnomAD
rs770638457 CA2294261	505	E>*		No	ClinGen ExAC gnomAD
rs755666784 CA2294258	507	M>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs777233618 CA2294259	507	M>K		No	ClinGen ExAC
CA2294256 rs781170404	508	D>G		No	ClinGen ExAC gnomAD
rs748060157 CA2294257	508	D>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA71518802 rs866413633	510	L>F		No	ClinGen Ensembl
CA2294255 rs754659264	512	D>N		No	ClinGen ExAC gnomAD
CA2294252 rs150796544	513	E>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2294254 rs751396281 COSM1143231	513	E>K	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs376402669 CA2294251	514	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA351811718 rs1559481123	515	D>H		No	ClinGen Ensembl
TCGA novel	515	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1559481119 CA351811712	515	D>V		No	ClinGen Ensembl
rs764256396 CA2294250	517	L>P		No	ClinGen ExAC gnomAD
rs372407531 CA2294249	518	G>R		No	ClinGen ESP ExAC TOPMed
rs1407905624 CA351811676	519	K>E		No	ClinGen gnomAD
rs1046000460 CA71518735	521	M>L		No	ClinGen TOPMed

No associated diseases with Q6ZQY3

1 regional properties for Q6ZQY3

Type	Name	Position	InterPro Accession
binding_site	Pyridoxal-phosphate binding site	326 - 347	IPR021115

Functions

		Description
EC Number	4.1.1.11	Carboxy-lyases
Subcellular Localization
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

2 GO annotations of cellular component

Name	Definition
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.

4 GO annotations of molecular function

Name	Definition
aspartate 1-decarboxylase activity	Catalysis of the reaction: L-aspartate = beta-alanine + CO2.
carboxy-lyase activity	Catalysis of the nonhydrolytic addition or removal of a carboxyl group to or from a compound.
pyridoxal phosphate binding	Binding to pyridoxal 5' phosphate, 3-hydroxy-5-(hydroxymethyl)-2-methyl4-pyridine carboxaldehyde 5' phosphate, the biologically active form of vitamin B6.
sulfinoalanine decarboxylase activity	Catalysis of the reaction: 3-sulfino-L-alanine = hypotaurine + CO2.

1 GO annotations of biological process

Name	Definition
carboxylic acid metabolic process	The chemical reactions and pathways involving carboxylic acids, any organic acid containing one or more carboxyl (COOH) groups or anions (COO-).

4 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
A6QM00	GADL1	Acidic amino acid decarboxylase GADL1	Bos taurus (Bovine)	PR
Q05329	GAD2	Glutamate decarboxylase 2	Homo sapiens (Human)	PR
Q80WP8	Gadl1	Acidic amino acid decarboxylase GADL1	Mus musculus (Mouse)	PR
Q6ESZ9	SDC1	Serine decarboxylase 1	Oryza sativa subsp japonica (Rice)	PR

10	20	30	40	50	60
MSSDSDRQCP	VDGDIDQQEM	IPSKKNAVLV	DGVVLNGPTT	DAKAGEKFVE	EACRLIMEEV
70	80	90	100	110	120
VLKATDVNEK	VCEWRPPEQL	KQLLDLEMRD	SGEPPHKLLE	LCRDVIHYSV	KTNHPRFFNQ
130	140	150	160	170	180
LYAGLDYYSL	VARFMTEALN	PSVYTYEVSP	VFLLVEEAVL	KKMIEFIGWK	EGDGIFNPGG
190	200	210	220	230	240
SVSNMYAMNL	ARYKYCPDIK	EKGLSGSPRL	ILFTSAECHY	SMKKAASFLG	IGTENVCFVE
250	260	270	280	290	300
TDGRGKMIPE	ELEKQVWQAR	KEGAAPFLVC	ATSGTTVLGA	FDPLDEIADI	CERHSLWLHV
310	320	330	340	350	360
DASWGGSALM	SRKHRKLLHG	IHRADSVAWN	PHKMLMAGIQ	CCALLVKDKS	DLLKKCYSAK
370	380	390	400	410	420
ASYLFQQDKF	YDVSYDTGDK	SIQCSRRPDA	FKFWMTWKAL	GTLGLEERVN	RALALSRYLV
430	440	450	460	470	480
DEIKKREGFK	LLMEPEYANI	CFWYIPPSLR	EMEEGPEFWA	KLNLVAPAIK	ERMMKKGSLM
490	500	510	520
LGYQPHRGKV	NFFRQVVISP	QVSREDMDFL	LDEIDLLGKD	M