AiPD: Autoinhibited Protein Database

Q8N3A8

Gene name	PARP8
Protein name	Protein mono-ADP-ribosyltransferase PARP8
Names	ADP-ribosyltransferase diphtheria toxin-like 16, ARTD16, Poly [ADP-ribose] polymerase 8, PARP-8
Species	Homo sapiens (Human)
KEGG Pathway	hsa:79668
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

249-325 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

249-325 (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 Q8N3A8

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q8N3A8-F1	Predicted				AlphaFoldDB

542 variants for Q8N3A8

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA3259904 rs755498419	3	M>L		No	ClinGen ExAC gnomAD
rs1025514109 CA118553126	3	M>T		No	ClinGen TOPMed
rs1286445384 CA359710779	4	C>S		No	ClinGen gnomAD
CA359710797 rs1349776697	7	Q>E		No	ClinGen gnomAD
CA359710806 rs1223895933	8	E>K		No	ClinGen gnomAD
CA3259905 rs779302643	9	R>G		No	ClinGen ExAC gnomAD
rs748506179 CA3259906	9	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1209008900 CA359710816	10	I>V		No	ClinGen gnomAD
CA3259907 rs756916855	11	Q>K		No	ClinGen ExAC TOPMed gnomAD
CA3259908 rs781021365	11	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA3259909 CA359710856 rs745308798	15	D>E		No	ClinGen ExAC TOPMed gnomAD
rs148675978 CA118553127	15	D>H		No	ClinGen ESP TOPMed gnomAD
rs769442781 CA3259910	16	V>A		No	ClinGen ExAC gnomAD
rs775196886 CA3259911	17	V>A		No	ClinGen ExAC gnomAD
CA3259912 rs142213709	18	I>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel CA118553128 rs963377971	19	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen TOPMed gnomAD NCI-TCGA
rs768516446 CA3259914	19	Q>L		No	ClinGen ExAC gnomAD
CA3259913 rs768516446	19	Q>R		No	ClinGen ExAC gnomAD
rs761537611 CA3259915	20	K>Q		No	ClinGen ExAC gnomAD
CA359710881 rs1369675925	20	K>R		No	ClinGen gnomAD
CA359710902 rs1442869610	23	A>G		No	ClinGen gnomAD
rs1364955470 CA359710924	26	D>G		No	ClinGen gnomAD
rs767690474 CA3259917	27	C>R		No	ClinGen ExAC TOPMed gnomAD
rs1029010638 CA118553129	27	C>Y		No	ClinGen TOPMed
rs1303752376 CA359710935	28	L>V		No	ClinGen TOPMed gnomAD
CA3259919 rs760693004	30	A>T		No	ClinGen ExAC gnomAD
CA3259920 rs766437178	30	A>V		No	ClinGen ExAC gnomAD
CA118553258 rs35736087	32	F>C		No	ClinGen Ensembl
rs1259581933 CA359711047	33	R>T		No	ClinGen gnomAD
rs1422533102 CA359711051	34	Y>H		No	ClinGen TOPMed
CA3259947 rs779598285	35	S>C		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	37	S>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3259948 rs753350483	37	S>P		No	ClinGen ExAC gnomAD
rs35276241 CA118553259	39	F>C		No	ClinGen Ensembl
rs1470843566 CA359711090	40	T>S		No	ClinGen gnomAD
rs35961738 CA118553260	41	F>Y		No	ClinGen Ensembl
rs1170520089 CA359711107	42	T>I		No	ClinGen gnomAD
CA359711111 rs1217703534	43	Y>C		No	ClinGen TOPMed gnomAD
rs995560002 CA118553261	43	Y>N		No	ClinGen TOPMed
rs754454631 CA3259949	44	V>I		No	ClinGen ExAC gnomAD
rs754454631 CA359711116	44	V>L		No	ClinGen ExAC gnomAD
CA359711123 rs1274943717	45	G>D		No	ClinGen TOPMed
rs778855802 CA3259950	46	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1027973174 CA118553263	47	P>L		No	ClinGen TOPMed
rs748068439 CA3259951	48	R>G		No	ClinGen ExAC gnomAD
rs1278564965 CA359711137	48	R>K		No	ClinGen TOPMed
CA3260015 rs575748388	50	V>I		No	ClinGen 1000Genomes ExAC gnomAD
CA3260014 rs575748388	50	V>L		No	ClinGen 1000Genomes ExAC gnomAD
CA117932075 rs756041032	51	S>F		No	ClinGen TOPMed gnomAD
rs764799494 CA3260017	53	S>L		No	ClinGen ExAC gnomAD
rs1165043640 CA359667100	56	V>I		No	ClinGen gnomAD
TCGA novel	56	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1580197202 COSM1068541 CA359667207	62	D>N	endometrium [Cosmic]	No	ClinGen cosmic curated Ensembl
CA3260060 rs200585713	66	V>L		No	ClinGen 1000Genomes ExAC gnomAD
CA3260063 rs202064979	68	S>N		No	ClinGen 1000Genomes ExAC gnomAD
CA3260064 rs202064979	68	S>T		No	ClinGen 1000Genomes ExAC gnomAD
CA3260066 rs747544429	71	N>D		No	ClinGen ExAC gnomAD
CA3260067 rs558874235	71	N>T		No	ClinGen 1000Genomes ExAC gnomAD
CA359668598 rs1271939113	72	D>E		No	ClinGen TOPMed gnomAD
CA359668625 rs1192503048	76	L>P		No	ClinGen gnomAD
CA3260069 rs373449170	77	V>L		No	ClinGen ESP ExAC gnomAD
rs761171838 CA3260072	83	P>L		No	ClinGen ExAC gnomAD
TCGA novel	84	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs771599487 CA359668689	86	F>L		No	ClinGen ExAC gnomAD
rs1164330623 CA359668695	87	H>R		No	ClinGen gnomAD
rs575556271 CA3260076	89	I>L		No	ClinGen 1000Genomes ExAC gnomAD
rs1382583827 CA359668710	89	I>T		No	ClinGen gnomAD
CA359668831 rs1580241720	95	K>E		No	ClinGen Ensembl
rs1232924575 CA359668860	97	N>S		No	ClinGen gnomAD
CA3260091 rs780342832	99	I>V		No	ClinGen ExAC gnomAD
rs747834399 CA3260092	102	C>R		No	ClinGen ExAC gnomAD
rs922593603 CA117939344	102	C>S		No	ClinGen TOPMed gnomAD
TCGA novel	102	C>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1238550421 CA359668953	104	S>Y		No	ClinGen gnomAD
rs1484307479 CA359668961	105	I>V		No	ClinGen gnomAD
CA117939353 rs776238227	107	S>P		No	ClinGen ExAC TOPMed gnomAD
CA3260093 rs776238227	107	S>T		No	ClinGen ExAC TOPMed gnomAD
CA3260095 rs746544306	110	Q>H		No	ClinGen ExAC gnomAD
rs1419905091 CA359669032	110	Q>K		No	ClinGen gnomAD
CA359669041 rs1160621972	110	Q>R		No	ClinGen gnomAD
rs770956022 CA3260096	111	K>E		No	ClinGen ExAC gnomAD
rs1172979236 CA359669083	113	N>D		No	ClinGen gnomAD
rs1474063234 CA359669101	113	N>K		No	ClinGen TOPMed
CA3260099 rs760123129	114	G>E		No	ClinGen ExAC TOPMed gnomAD
CA3260098 rs760123129	114	G>V		No	ClinGen ExAC TOPMed gnomAD
rs776719074 CA3260097	114	G>W		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	116	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3260119 rs775304725	116	E>Q		No	ClinGen ExAC gnomAD
CA3260120 rs373664293	116	E>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA359669485 rs1468227494	120	N>D		No	ClinGen gnomAD
CA3260122 rs201688514	121	S>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs762080636 CA3260123	122	T>I		No	ClinGen ExAC gnomAD
rs1323932509 CA359669535	127	S>A		No	ClinGen TOPMed
CA359669565 rs1184775663	131	N>S		No	ClinGen gnomAD
TCGA novel	132	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1477888806 CA359669583	134	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA359669610 rs1391569345	137	Y>C		No	ClinGen gnomAD
CA3260126 rs761224612	137	Y>H		No	ClinGen ExAC gnomAD
rs766821311 CA3260127	138	Y>D		No	ClinGen ExAC gnomAD
CA3260129 rs755306291	139	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA3260130 rs779474691	140	G>R		No	ClinGen ExAC gnomAD
CA3260131 rs751229714	140	G>V		No	ClinGen ExAC gnomAD
CA359669636 rs1220956412 CA359669637	141	Q>H		No	ClinGen TOPMed gnomAD
rs1391480211 CA359669633	141	Q>P		No	ClinGen TOPMed
CA117940797 rs1050579350	144	Y>C		No	ClinGen TOPMed gnomAD
CA3260155 rs372370052	145	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA3260156 rs372370052	145	D>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1468284213 CA359669677	146	G>R		No	ClinGen gnomAD
CA359669687 rs1337821682	147	E>G		No	ClinGen TOPMed
rs528272206 CA117940811	150	K>M		No	ClinGen Ensembl
rs376299784 CA117940812	155	E>A		No	ClinGen ESP
TCGA novel	157	D>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA359669798 rs1172355161	163	E>D		No	ClinGen gnomAD
CA359669796 rs1421900659	163	E>V		No	ClinGen gnomAD
CA359669799 rs1386906109	164	I>L		No	ClinGen TOPMed
CA3260158 rs772211703	164	I>R		No	ClinGen ExAC gnomAD
CA3260159 rs772211703	164	I>T		No	ClinGen ExAC gnomAD
CA3260160 rs747058396	166	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1441833028 CA359669820	167	P>L		No	ClinGen gnomAD
rs776840715 CA3260162	167	P>S		No	ClinGen ExAC gnomAD
rs542636223 CA117940879	168	H>Q		No	ClinGen Ensembl
CA117934358 rs1046495888	174	E>*		No	ClinGen TOPMed
rs763603761 CA3260187	177	A>T		No	ClinGen ExAC gnomAD
rs1477753104 CA359661693	186	H>R		No	ClinGen gnomAD
CA359661703 rs1379583577	187	I>V		No	ClinGen Ensembl
CA359661726 rs1402472164	188	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs760230087 CA3260190	190	S>N		No	ClinGen ExAC gnomAD
rs745895563 CA3260205	195	E>D		No	ClinGen ExAC TOPMed gnomAD
rs769973696 CA3260206	196	I>S		No	ClinGen ExAC gnomAD
CA117934561 rs1024241321	198	V>M		No	ClinGen TOPMed gnomAD
CA359662113 rs1399336081	199	A>S		No	ClinGen gnomAD
CA3260207 rs79254745	200	W>L		No	ClinGen ExAC gnomAD
rs769262102 CA359662162	201	E>D		No	ClinGen ExAC TOPMed gnomAD
CA3260208 rs749806901	201	E>G		No	ClinGen ExAC gnomAD
rs1580312036 CA359662180	202	V>E		No	ClinGen Ensembl
TCGA novel	202	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1311332317 CA359662222	204	R>*		No	ClinGen TOPMed gnomAD
rs376492269 CA359662229	204	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM1068544 rs376492269 CA3260210	204	R>Q	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs762239917 CA3260211	205	T>A		No	ClinGen ExAC gnomAD
rs553180582 CA3260213	205	T>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs553180582 CA3260212	205	T>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	206	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1218067849 CA359662288	207	P>R		No	ClinGen gnomAD
rs573101051 CA3260214	207	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs573101051 CA359662275	207	P>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs764727150 CA3260215	208	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1181375641 CA359662338	209	I>T		No	ClinGen gnomAD
rs752265662 CA3260216	209	I>V		No	ClinGen ExAC gnomAD
rs1211679324 CA359662363	211	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA3260217 rs762822037	211	R>Q		No	ClinGen ExAC gnomAD
CA3260219 rs369907021	217	T>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1354879914 CA359662502	220	L>F		No	ClinGen TOPMed
CA359663714 rs1561381379	224	V>G		No	ClinGen Ensembl
TCGA novel	224	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3260243 rs753926806	226	T>A		No	ClinGen ExAC TOPMed gnomAD
rs1024803400 CA359663796	228	D>E		No	ClinGen TOPMed gnomAD
CA359663816 rs1458391777	229	V>G		No	ClinGen gnomAD
rs778904659 CA3260245	231	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA359663901 rs1238141751	233	S>A		No	ClinGen gnomAD
CA359663910 rs1476917853	233	S>Y		No	ClinGen gnomAD
CA3260247 rs570427500	235	K>N		No	ClinGen 1000Genomes ExAC gnomAD
rs146551276 CA3260248	237	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs200546345 CA3260249	239	G>V		No	ClinGen 1000Genomes ExAC gnomAD
CA3260250 rs769400313	240	L>S		No	ClinGen ExAC gnomAD
rs201065713 CA117939997	242	H>L		No	ClinGen ExAC gnomAD
rs201065713 CA3260252	242	H>R		No	ClinGen ExAC gnomAD
rs761796669 CA3260255	245	K>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	247	I>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	247	I>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1355945940 CA359665996	248	M>T		No	ClinGen gnomAD
rs1312441062 CA359665991	248	M>V		No	ClinGen gnomAD
CA359666015 rs1229034800	249	Q>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1290344396 CA359666056	254	Q>K		No	ClinGen TOPMed gnomAD
CA117942656 rs201728056	255	Q>H		No	ClinGen 1000Genomes TOPMed gnomAD
rs540913126 CA117942671	259	S>G		No	ClinGen 1000Genomes
TCGA novel	259	S>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3260270 rs748965309	259	S>N		No	ClinGen ExAC gnomAD
TCGA novel	264	N>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs141289970 CA3260271	264	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs182405658 CA3260276	273	E>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs766241895 CA3260277	274	K>R		No	ClinGen ExAC TOPMed gnomAD
CA359666379 rs1158622563	277	K>M		No	ClinGen gnomAD
TCGA novel	277	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1311615418 CA359666394	278	S>F		No	ClinGen gnomAD
rs759748960 CA3260279	279	P>S		No	ClinGen ExAC gnomAD
CA359666413 rs1423496591	281	H>N		No	ClinGen TOPMed
rs1339888003 CA359666420	281	H>R		No	ClinGen TOPMed gnomAD
rs1183047928 CA359666469	285	T>A		No	ClinGen TOPMed
rs765385797 CA3260280 COSM592782	285	T>I	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs752784386 CA3260281	286	L>S		No	ClinGen ExAC gnomAD
CA3260282 COSM1219322 rs537537657	287	R>C	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs142224685 CA3260283	287	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3260284 rs142224685	287	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA117942718 rs537537657	287	R>S		No	ClinGen ExAC gnomAD
TCGA novel	288	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA117943056 rs1024542674	289	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1340257075 CA359666571	290	P>S		No	ClinGen TOPMed
TCGA novel	293	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs780513240 CA3260307	294	P>A		No	ClinGen ExAC gnomAD
CA359666621 COSM1543867 rs1421501673	294	P>L	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs780513240 CA359666618 COSM1695762	294	P>S	skin [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1465355709 CA359666630	295	P>T		No	ClinGen gnomAD
CA117943082 rs377556251	296	G>C		No	ClinGen ESP gnomAD
CA359666642 rs1397001815	296	G>D		No	ClinGen gnomAD
rs1321287633 CA359666653	297	C>Y		No	ClinGen gnomAD
TCGA novel	298	G>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs777404837 CA3260310	299	K>R		No	ClinGen ExAC gnomAD
CA359666690 rs1299392440	300	S>N		No	ClinGen TOPMed
rs746525971 CA3260311	301	K>R		No	ClinGen ExAC TOPMed gnomAD
CA359666718 rs1364182463	302	S>F		No	ClinGen TOPMed
CA359666756 rs1258268974	307	E>D		No	ClinGen gnomAD
CA359666753 rs1217710108	307	E>G		No	ClinGen gnomAD
rs781015708 CA3260313	308	Q>*		No	ClinGen ExAC gnomAD
CA359666764 COSM94934 rs1208453590	309	D>Y	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
CA3260315 rs561586600	310	G>R		No	ClinGen 1000Genomes ExAC gnomAD
CA359666802 rs1202212392	312	S>F		No	ClinGen gnomAD
CA3260316 rs775424928	314	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1171277291 CA359666836	315	H>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA359666850 rs1171720773	316	K>R		No	ClinGen gnomAD
CA3260318 rs768881067	318	L>R		No	ClinGen ExAC gnomAD
rs878868007 CA117943137	319	R>Q		No	ClinGen gnomAD
CA3260320 rs774347413	319	R>W		No	ClinGen ExAC TOPMed gnomAD
CA3260322 rs750871199	320	R>W		No	ClinGen ExAC
CA359666961 rs1398825254	327	K>Q		No	ClinGen gnomAD
CA3260323 rs761281699	329	D>V		No	ClinGen ExAC gnomAD
CA3260324 rs766646570	330	D>N		No	ClinGen ExAC gnomAD
CA117943164 rs767914684	331	V>A		No	ClinGen Ensembl
rs754310103 CA3260325	331	V>L		No	ClinGen ExAC gnomAD
rs1357493043 CA359667054	333	V>L		No	ClinGen gnomAD
CA3260328 rs751066556	336	S>L		No	ClinGen ExAC gnomAD
rs1488224453 CA359667118	337	H>N		No	ClinGen TOPMed gnomAD
rs1488224453 CA359667122	337	H>Y		No	ClinGen TOPMed gnomAD
rs756704501 CA3260329	338	R>G		No	ClinGen ExAC TOPMed gnomAD
rs138962292 CA3260331	339	T>S		No	ClinGen ESP ExAC
CA3260330 rs780799111	339	T>S		No	ClinGen ExAC gnomAD
CA3260332 rs756134489	341	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1367741792 CA359667213	342	R>C		No	ClinGen TOPMed gnomAD
CA3260333 rs546955965 COSM1068546	342	R>H	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs768824264 CA3260335	343	S>T		No	ClinGen ExAC gnomAD
rs748417836 CA359667281	346	S>R		No	ClinGen ExAC TOPMed gnomAD
CA3260338 rs772013590	347	D>N		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	349	R>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1279241557 CA359667319	350	A>T		No	ClinGen TOPMed
rs773404969 CA3260339	350	A>V		No	ClinGen ExAC gnomAD
rs377028776 CA117943222	353	A>S		No	ClinGen ESP TOPMed gnomAD
rs377028776 CA359667354	353	A>T		No	ClinGen ESP TOPMed gnomAD
rs371543720 CA3260342	354	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA3260343 rs760004605	357	I>S		No	ClinGen ExAC gnomAD
rs1262624378 CA359667402	357	I>V		No	ClinGen gnomAD
CA3260344 rs202205038	359	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs202084370 CA117943251	360	H>P		No	ClinGen Ensembl
CA3260347 rs766923691	360	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs1378188934 CA359667480	363	L>F		No	ClinGen gnomAD
CA3260349 rs201467874	365	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3260350 rs200310572	368	P>S		No	ClinGen ExAC gnomAD
CA359667553 rs1464088138	370	A>V		No	ClinGen gnomAD
CA3260351 rs143769094	371	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1199445031 CA359667575	372	K>E		No	ClinGen TOPMed
CA3260353 rs778719932	377	L>P		No	ClinGen ExAC gnomAD
CA3260356 rs773105648	378	T>S		No	ClinGen ExAC gnomAD
rs568432561 CA359667698	379	L>V		No	ClinGen 1000Genomes ExAC gnomAD
rs771518246 CA3260358	381	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA3260361 rs148154977	382	H>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA359667750 rs1232652241	382	H>Y		No	ClinGen gnomAD
rs1457947168 CA359667766	383	R>G		No	ClinGen TOPMed
CA359667774 rs1196970467	383	R>K		No	ClinGen TOPMed gnomAD
CA3260363 rs761314785	383	R>S		No	ClinGen ExAC TOPMed gnomAD
rs1274827098 CA359667782	384	L>V		No	ClinGen TOPMed
CA3260366 rs760253558	386	T>A		No	ClinGen ExAC gnomAD
rs554189401 CA3260368	387	R>L		No	ClinGen 1000Genomes ExAC gnomAD
CA3260369 rs554189401	387	R>P		No	ClinGen 1000Genomes ExAC gnomAD
CA3260367 rs554189401	387	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
CA3260370 rs778662751	388	S>C		No	ClinGen ExAC gnomAD
rs866444900 CA117943337	390	S>F		No	ClinGen Ensembl
TCGA novel	391	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA359667882 rs1174755667	392	D>N		No	ClinGen TOPMed gnomAD
CA359667884 rs1174755667	392	D>Y		No	ClinGen TOPMed gnomAD
CA359667917 rs1470783050	394	R>L		No	ClinGen TOPMed gnomAD
CA359667915 rs1470783050	394	R>P		No	ClinGen TOPMed gnomAD
CA359667913 rs1470783050	394	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs375695237 CA3260371	396	E>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs1561391792 CA359667973	398	N>S		No	ClinGen Ensembl
CA359667980 rs1412581731	399	T>A		No	ClinGen TOPMed
rs1346983729 CA359667982	399	T>I		No	ClinGen gnomAD
CA359668036 rs1580366496	403	P>L		No	ClinGen Ensembl
rs142021272 CA3260374	404	H>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs142021272 CA3260375	404	H>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1366152902 CA359668042	404	H>Y		No	ClinGen TOPMed gnomAD
CA359668077 rs1325755574	408	S>T		No	ClinGen gnomAD
CA3260378 rs770438609	410	S>F		No	ClinGen ExAC TOPMed gnomAD
rs1445087971 CA359668107	413	S>G		No	ClinGen TOPMed gnomAD
rs1445087971 CA359668109	413	S>R		No	ClinGen TOPMed gnomAD
rs1201320595 CA359668116	414	N>D		No	ClinGen TOPMed
CA3260381 rs771574187	414	N>S		No	ClinGen ExAC TOPMed gnomAD
CA3260382 rs772896755	415	L>I		No	ClinGen ExAC gnomAD
rs1168152687 CA359668131 COSM1437720	416	R>I	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs760285167 CA3260383	418	E>D		No	ClinGen ExAC gnomAD
rs1284487961 CA359668166	421	Y>H		No	ClinGen TOPMed
CA3260385 rs753400508	423	L>R		No	ClinGen ExAC gnomAD
TCGA novel	425	N>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3260386 rs759406831	426	H>Q		No	ClinGen ExAC gnomAD
rs1239600215 CA359668201	426	H>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs907350231 CA117943383	427	K>T		No	ClinGen TOPMed
CA3260389 rs758192959	428	L>F		No	ClinGen ExAC TOPMed gnomAD
rs576587289 CA3260388	428	L>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3260390 rs777472591	429	L>P		No	ClinGen ExAC gnomAD
rs781364462 CA3260393	431	K>N		No	ClinGen ExAC gnomAD
rs757615169 CA3260392	431	K>R		No	ClinGen ExAC
CA359668253 rs1340052321	434	S>A		No	ClinGen TOPMed
rs1334584872 CA359668254	434	S>F		No	ClinGen TOPMed
rs770387579 CA3260395	437	P>L		No	ClinGen ExAC gnomAD
rs770387579 CA359668274	437	P>R		No	ClinGen ExAC gnomAD
CA117943432 rs267600648	437	P>S		No	ClinGen Ensembl
CA3260396 rs558768871	438	K>R		No	ClinGen ExAC TOPMed gnomAD
rs558768871 CA359668279	438	K>T		No	ClinGen ExAC TOPMed gnomAD
rs749807261 CA3260397	439	S>A		No	ClinGen ExAC gnomAD
rs1221706440 CA359668298	441	K>I		No	ClinGen gnomAD
rs1190913403 CA359668325	445	F>S		No	ClinGen gnomAD
TCGA novel	445	F>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs760306355 CA3260400	446	K>M		No	ClinGen ExAC gnomAD
rs182814465 CA3260402	447	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs759075504 CA3260403	448	P>T		No	ClinGen ExAC TOPMed gnomAD
CA3260404 rs764706235	449	N>D		No	ClinGen ExAC gnomAD
CA117943474 rs964513155	450	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA359668368 rs1418339952	452	G>S		No	ClinGen gnomAD
CA359668386 rs1345852706	454	R>S		No	ClinGen gnomAD
rs975802381 CA359668389	455	L>F		No	ClinGen TOPMed gnomAD
rs975802381 CA117943475	455	L>I		No	ClinGen TOPMed gnomAD
CA3260407 rs763939165	455	L>P		No	ClinGen ExAC gnomAD
rs1216488249 CA359668405	458	T>A		No	ClinGen TOPMed
rs1315423975 CA359668421	460	G>V		No	ClinGen TOPMed gnomAD
CA3260410 rs147176406	461	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs750483154 CA3260411	461	L>P		No	ClinGen ExAC gnomAD
rs1438997077 CA359668428	462	I>L		No	ClinGen gnomAD
rs1283013881 CA359668432	462	I>M		No	ClinGen gnomAD
rs756238326 CA3260412	463	G>D		No	ClinGen ExAC gnomAD
CA359668443 rs1226607704	464	I>N		No	ClinGen TOPMed
CA359668451 rs1580367624	466	T>A		No	ClinGen Ensembl
TCGA novel	467	P>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1387409886 CA359668489	472	S>Y		No	ClinGen gnomAD
CA117943502 rs925218195	475	L>F		No	ClinGen TOPMed gnomAD
CA3260415 rs370470653	476	A>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA3260441 rs779315861	477	P>T		No	ClinGen ExAC gnomAD
TCGA novel	478	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs748460546 CA3260442	478	N>S		No	ClinGen ExAC TOPMed gnomAD
CA3260443 rs758734339	479	G>R		No	ClinGen ExAC gnomAD
rs745509909 CA3260445	483	I>F		No	ClinGen ExAC gnomAD
rs769350174 CA3260446	485	V>L		No	ClinGen ExAC gnomAD
rs139519921 CA359668813	486	R>*		No	ClinGen ESP TOPMed gnomAD
CA359668808 rs139519921	486	R>G		No	ClinGen ESP TOPMed gnomAD
rs779550804 CA3260447	486	R>Q		No	ClinGen ExAC gnomAD
CA3260449 rs768591392	487	D>H		No	ClinGen ExAC TOPMed gnomAD
CA359668823 rs768591392	487	D>N		No	ClinGen ExAC TOPMed gnomAD
rs1580373165 CA359668826	487	D>V		No	ClinGen Ensembl
rs200351181 CA3260451	488	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1421801606 CA359668848	488	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs149706373 CA3260467	495	I>V		No	ClinGen ESP ExAC TOPMed
CA359668976 rs1327781419	496	E>A		No	ClinGen gnomAD
rs1244275317 CA359668996	497	F>L		No	ClinGen gnomAD
CA3260469 rs778631501	500	Q>*		No	ClinGen ExAC gnomAD
rs1485564892 CA359669044	501	R>Q		No	ClinGen TOPMed gnomAD
rs1284053144 CA359669042	501	R>W		No	ClinGen gnomAD
rs113115808 CA117944425	503	P>S		No	ClinGen Ensembl
CA3260471 rs199809009	506	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	507	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1181533262 CA359669216	514	E>K		No	ClinGen TOPMed gnomAD
CA3260474 rs771133045	516	H>Y		No	ClinGen ExAC gnomAD
rs763156851 CA3260475	519	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs1452403167 CA359669307	521	G>C		No	ClinGen gnomAD
CA3260476 rs759840540	522	P>A		No	ClinGen ExAC gnomAD
TCGA novel	523	M>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA359669326 rs1386689726	523	M>V		No	ClinGen gnomAD
CA3260477 rs765290974	525	R>K		No	ClinGen ExAC gnomAD
CA3260495 rs746022779	527	T>A		No	ClinGen ExAC TOPMed gnomAD
rs144559018 CA3260498	528	V>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA359670558 rs1177704845 COSM190766	528	V>I	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
CA117953934 rs868615936	529	C>Y		No	ClinGen Ensembl
CA359670597 rs1198001419	531	R>Q		No	ClinGen gnomAD
CA359670627 rs1348355376	535	V>M		No	ClinGen TOPMed
CA3260499 rs764208692	537	A>G		No	ClinGen ExAC TOPMed gnomAD
rs774691301 CA3260500	542	G>*		No	ClinGen ExAC gnomAD
TCGA novel	542	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1354302104 CA359670747	545	N>I		No	ClinGen gnomAD
rs148472387 CA117953939	550	E>G		No	ClinGen ESP TOPMed
CA359670811 rs1463007096	551	I>V		No	ClinGen gnomAD
CA359670821 rs1300386505	552	A>T		No	ClinGen gnomAD
CA359670827 rs1170299947	552	A>V		No	ClinGen TOPMed
rs761028933 CA117953943	553	T>S		No	ClinGen gnomAD
rs749552939 CA3260516	558	V>I		No	ClinGen ExAC TOPMed gnomAD
CA3260517 rs140755482	561	L>Q		No	ClinGen 1000Genomes ExAC
CA3260518 rs144167543	564	M>I		No	ClinGen ESP ExAC TOPMed
TCGA novel	568	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM222058 rs768072385 CA3260521	574	K>N	skin [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1485967645 CA359671191	575	V>D		No	ClinGen gnomAD
rs761143597 CA3260522	575	V>F		No	ClinGen ExAC gnomAD
rs761143597 CA359671190	575	V>L		No	ClinGen ExAC gnomAD
rs1554068735 CA3260524	576	V>G		No	ClinGen Ensembl
CA3260523 rs766898245	576	V>L		No	ClinGen ExAC
CA3260528 rs763457819	577	I>F		No	ClinGen ExAC gnomAD
CA3260529 rs763457819	577	I>L		No	ClinGen ExAC gnomAD
CA3260530 rs757103301	578	F>C		No	ClinGen ExAC gnomAD
rs202123953 CA3260532	578	F>L		No	ClinGen 1000Genomes ExAC gnomAD
rs372763367 CA3260534 COSM276608	579	E>K	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA359671261 rs1416110734 CA359671260	586	D>E		No	ClinGen gnomAD
CA359671272 rs1580458853	588	N>S		No	ClinGen Ensembl
CA3260536 rs201475333	590	P>H		No	ClinGen ExAC TOPMed gnomAD
CA117955473 rs201475333	590	P>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	594	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3260538 rs778788248	594	A>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	598	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs755111889 CA3260557	601	N>S		No	ClinGen ExAC gnomAD
rs747163530 CA117955732 COSM231057	604	R>Q	skin [Cosmic]	No	ClinGen cosmic curated Ensembl
rs779214647 CA3260558	605	V>L		No	ClinGen ExAC gnomAD
rs1281093391 CA359671408	606	M>V		No	ClinGen TOPMed gnomAD
CA117955733 rs1042446264	613	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA3260559 rs748367359	614	S>C		No	ClinGen ExAC gnomAD
CA3260560 rs772159418	615	I>V		No	ClinGen ExAC gnomAD
CA359671507 rs1580462676	620	Q>R		No	ClinGen Ensembl
CA3260592 rs772666213	621	A>T		No	ClinGen ExAC gnomAD
CA359671527 rs1561435597	621	A>V		No	ClinGen Ensembl
rs558588855 CA3260593	622	P>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA117956438 rs771670696	626	I>T		No	ClinGen Ensembl
rs1561435686 CA359671577	629	Q>E		No	ClinGen Ensembl
CA3260595 rs776517872	630	M>I		No	ClinGen ExAC
rs765066954 CA3260597	631	D>G		No	ClinGen ExAC gnomAD
rs370801921 CA3260596	631	D>N		No	ClinGen ESP ExAC gnomAD
CA359671598 rs1405767841	632	K>E		No	ClinGen TOPMed
CA359671608 COSM482859 rs1580471467	633	Q>E	kidney [Cosmic]	No	ClinGen cosmic curated Ensembl
rs1184417382 CA359671627	635	P>L		No	ClinGen TOPMed
CA3260601 rs751879877	637	A>S		No	ClinGen ExAC gnomAD
rs1291182010 CA359671648	639	P>A		No	ClinGen gnomAD
CA359671701 rs1466072415	645	I>V		No	ClinGen gnomAD
CA359671729 rs1181476537	649	R>G		No	ClinGen gnomAD
rs1395453540 CA359671745	651	H>R		No	ClinGen TOPMed
rs1242493714 CA359671744 COSM1186762	651	H>Y	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
TCGA novel	654	K>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA359671794 rs1580478293	658	N>K		No	ClinGen Ensembl
rs762063340 CA3260651	660	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs1312525330 CA359671830	662	K>Q		No	ClinGen gnomAD
rs1468069832 CA359671847	664	M>V		No	ClinGen gnomAD
rs1211913556 CA359671857	665	H>Y		No	ClinGen TOPMed gnomAD
CA3260654 rs34423469	667	P>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	670	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs754293134 CA359671933	676	P>A		No	ClinGen ExAC TOPMed gnomAD
rs754293134 CA3260656	676	P>S		No	ClinGen ExAC TOPMed gnomAD
CA3260659 rs753062680	682	N>K		No	ClinGen ExAC gnomAD
rs1561440018 CA359671972	682	N>Y		No	ClinGen Ensembl
CA3260660 rs756862351	685	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA3260661 rs780688237	686	A>S		No	ClinGen ExAC gnomAD
TCGA novel	688	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1363785132 CA359672017	688	K>N		No	ClinGen gnomAD
TCGA novel	688	K>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1398574394 CA359672014	688	K>T		No	ClinGen TOPMed
TCGA novel	689	L>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	690	F>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA359672032 rs769182887	690	F>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	693	T>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs549262513 CA3260666	696	F>L		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	698	G>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3260689 rs773114353	700	H>P		No	ClinGen ExAC
CA3260690 rs747141033	701	I>M		No	ClinGen ExAC gnomAD
CA359672116 rs1213206220	701	I>T		No	ClinGen gnomAD
rs112678068 CA3260691	706	S>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
rs112678068 CA117957510	706	S>F		No	ClinGen 1000Genomes ExAC gnomAD
rs759633672 CA3260693	713	V>I		No	ClinGen ExAC TOPMed gnomAD
rs140500350 CA117957515	714	V>F		No	ClinGen ESP
rs765342250 CA3260694	719	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA117957523 rs150449107	719	R>L		No	ClinGen ESP ExAC gnomAD
CA3260696 rs150449107	719	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
rs751961265 CA3260698	721	Q>K		No	ClinGen ExAC gnomAD
TCGA novel	722	L>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1281817876 CA359672289	726	M>I		No	ClinGen gnomAD
rs142626343 CA3260718	726	M>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	727	Y>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs762219308 CA3260719	729	S>G		No	ClinGen ExAC gnomAD
rs1281381538 CA359672334	733	L>F		No	ClinGen gnomAD
TCGA novel	735	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1204545039 CA359672357	736	M>I		No	ClinGen gnomAD
rs766522000 CA117957878	736	M>K		No	ClinGen Ensembl
rs1436513314 CA359672352 CA359672354	736	M>L		No	ClinGen TOPMed gnomAD
rs759315573 CA3260722	739	I>V		No	ClinGen ExAC gnomAD
TCGA novel rs756282671 CA3260750	746	M>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC gnomAD NCI-TCGA
CA359672443 rs1264923518	747	N>D		No	ClinGen gnomAD
CA359672469 rs1211823898	750	Q>R		No	ClinGen TOPMed gnomAD
CA359672481 rs1291816198	752	V>M		No	ClinGen TOPMed gnomAD
rs780304817 CA3260751	754	A>D		No	ClinGen ExAC gnomAD
COSM1695763 rs1248573702 CA359672514	757	E>K	skin [Cosmic]	No	ClinGen cosmic curated gnomAD
CA3260754 rs201581623	759	A>T		No	ClinGen ExAC TOPMed gnomAD
CA359672552 rs1580500932	762	S>T		No	ClinGen Ensembl
rs1448817483 CA359672583	766	N>S		No	ClinGen TOPMed
TCGA novel	767	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA359672592 rs1302255316	767	T>I		No	ClinGen TOPMed
rs772708087 CA3260756	768	S>L		No	ClinGen ExAC gnomAD
rs1191849692 CA359672656	771	Q>L		No	ClinGen TOPMed
CA3260778 rs778402664	773	K>R		No	ClinGen ExAC gnomAD
CA359672679 rs1437138665	774	G>E		No	ClinGen gnomAD
VAR_035853	777	S>A	a colorectal cancer sample; somatic mutation [UniProt]	No	UniProt
rs1300268938 CA359672717	778	Q>H		No	ClinGen TOPMed gnomAD
TCGA novel	778	Q>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3260780 rs771315054	779	F>L		No	ClinGen ExAC gnomAD
rs776874186 CA3260781	780	L>V		No	ClinGen ExAC gnomAD
rs77746359 CA117958838	781	Q>K		No	ClinGen Ensembl
CA117958843 rs570652419	782	S>I		No	ClinGen 1000Genomes
rs1271918923 CA359672752	783	R>C		No	ClinGen TOPMed gnomAD
rs748905955 CA3260782	783	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1205197368 CA359672792	788	I>V		No	ClinGen TOPMed gnomAD
rs768226099 CA3260783	789	A>T		No	ClinGen ExAC gnomAD
TCGA novel	791	C>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs763282272 CA3260813	794	I>V		No	ClinGen ExAC gnomAD
CA359672854 rs1156767628	795	T>I		No	ClinGen gnomAD
rs757734951 CA3260816	798	D>E		No	ClinGen ExAC gnomAD
CA3260817 rs781531663	804	E>Q		No	ClinGen ExAC gnomAD
rs750982383 CA3260818	806	W>*		No	ClinGen ExAC gnomAD
rs967499122 CA117959068	808	V>A		No	ClinGen TOPMed
rs1372293643 CA359672949	810	N>H		No	ClinGen TOPMed
CA3260819 rs756435205	810	N>S		No	ClinGen ExAC TOPMed gnomAD
CA117959075 rs374798900	812	D>E		No	ClinGen Ensembl
CA3260821 rs747736814	816	T>I		No	ClinGen ExAC gnomAD
CA3260822 rs771712825	817	R>*		No	ClinGen ExAC TOPMed gnomAD
CA3260823 rs777223144	818	F>L		No	ClinGen ExAC gnomAD
rs1225789516	820	F>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs199555717 CA3260824	821	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1439718636 CA359710525	822	Y>C		No	ClinGen gnomAD
rs1252820974 CA359710522	822	Y>H		No	ClinGen gnomAD
CA118556935 rs867562517	824	D>G		No	ClinGen Ensembl
CA359710544 rs1244765031	825	G>S		No	ClinGen gnomAD
CA3260836 rs756662173	826	Q>E		No	ClinGen ExAC TOPMed gnomAD
CA359710555 rs780325701	826	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA359710557 rs1344302826	827	V>M		No	ClinGen gnomAD
CA3260839 rs757994937	832	I>T		No	ClinGen ExAC gnomAD
CA3260840 rs147140576	833	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1322033075 CA359710611	835	Q>E		No	ClinGen gnomAD
TCGA novel	840	H>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1215648036 CA359710663	842	E>Q		No	ClinGen TOPMed
CA3260842 rs756716965	845	R>*		No	ClinGen ExAC gnomAD
rs186735992 COSM1068556 CA3260843	845	R>Q	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD
rs745726720 CA3260844	847	I>T		No	ClinGen ExAC gnomAD
TCGA novel	848	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3260845 rs769884113	848	G>S		No	ClinGen ExAC gnomAD
CA3260846 rs775377369	853	T>A		No	ClinGen ExAC gnomAD
CA118556937 rs867408326	855	G>Q		No	ClinGen Ensembl

No associated diseases with Q8N3A8

1 regional properties for Q8N3A8

Type	Name	Position	InterPro Accession
domain	Poly(ADP-ribose) polymerase, catalytic domain	617 - 844	IPR012317

Functions

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

No GO annotations of cellular component

Name	Definition
No GO annotations for cellular component

3 GO annotations of molecular function

Name	Definition
NAD+ ADP-ribosyltransferase activity	Catalysis of the reaction: NAD+ + (ADP-D-ribosyl)(n)-acceptor = nicotinamide + (ADP-D-ribosyl)(n+1)-acceptor.
NAD+- protein-cysteine ADP-ribosyltransferase activity	Catalysis of the reaction: L-cysteinyl- + NAD(+) = H(+) + nicotinamide + S-(ADP-D-ribosyl)-L-cysteinyl-
NAD+-protein ADP-ribosyltransferase activity	Catalysis of the reaction: amino acyl- + NAD+ = H+ + (ADP-D-ribosyl)-amino acyl-

3 GO annotations of biological process

Name	Definition
protein ADP-ribosylation	The transfer, from NAD, of ADP-ribose to protein amino acids.
protein auto-ADP-ribosylation	The ADP-ribosylation by a protein of one or more of its own amino acid residues, or residues on an identical protein.
protein mono-ADP-ribosylation	The transfer, from NAD, of a single (mono) ADP-ribose molecule to protein amino acids.

1 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q6P6P7	Parp6	Protein mono-ADP-ribosyltransferase PARP6	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MGMCSRQERI	QKDIDVVIQK	SRAEKDCLFA	DFRYSDSTFT	FTYVGGPRSV	SYSVHVSEDY
70	80	90	100	110	120
PDNTYVSSSE	NDEDVLVTTE	PIPVIFHRIA	TELRKTNDIN	CCLSIKSKLQ	KENGEESRQN
130	140	150	160	170	180
STVEEDSEGD	NDSEEFYYGG	QVNYDGELHK	HPQLEADLSA	VREIYGPHAV	SLREYGAIDD
190	200	210	220	230	240
VDIDLHIDVS	FLDEEIAVAW	EVIRTEPIIV	RLHCSLTQYL	NGPVPTVDVF	QISTKERFGL
250	260	270	280	290	300
GHQLKKIMQT	FVTQQWKQSK	EKSNCLHNKK	LSEKKVKSPL	HLFSTLRRSP	SYPPPGCGKS
310	320	330	340	350	360
KSKLKSEQDG	ISKTHKLLRR	TCSSTVKTDD	VCVTKSHRTF	GRSLSSDPRA	EQAMTAIKSH
370	380	390	400	410	420
KLLNRPCPAA	VKSEECLTLK	SHRLLTRSCS	GDPRCEHNTN	LKPHKLLSRS	YSSNLRMEEL
430	440	450	460	470	480
YGLKNHKLLS	KSYSSAPKSS	KTELFKEPNA	EGRRLSLTSG	LIGILTPSSS	SSSQLAPNGA
490	500	510	520	530	540
KCIPVRDRGF	LVQTIEFAEQ	RIPVLNEYCV	VCDEPHVFQN	GPMLRPTVCE	RELCVFAFQT
550	560	570	580	590	600
LGVMNEAADE	IATGAQVVDL	LVSMCRSALE	SPRKVVIFEP	YPSVVDPNDP	QMLAFNPRKK
610	620	630	640	650	660
NYDRVMKALD	SITSIREMTQ	APYLEIKKQM	DKQDPLAHPL	LQWVISSNRS	HIVKLPVNRQ
670	680	690	700	710	720
LKFMHTPHQF	LLLSSPPAKE	SNFRAAKKLF	GSTFAFHGSH	IENWHSILRN	GLVVASNTRL
730	740	750	760	770	780
QLHGAMYGSG	IYLSPMSSIS	FGYSGMNKKQ	KVSAKDEPAS	SSKSSNTSQS	QKKGQQSQFL
790	800	810	820	830	840
QSRNLKCIAL	CEVITSSDLH	KHGEIWVVPN	TDHVCTRFFF	VYEDGQVGDA	NINTQEGGIH
850
KEILRVIGNQ	TATG