AiPD: Autoinhibited Protein Database

Q06278

Gene name	AOX1
Protein name	Aldehyde oxidase
Names	Aldehyde oxidase 1, Azaheterocycle hydroxylase
Species	Homo sapiens (Human)
KEGG Pathway	hsa:316
EC number	1.2.3.1: With oxygen as acceptor
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

503-582 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

503-582 (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

8 structures for Q06278

Entry ID	Method	Resolution	Chain	Position	Source
4UHW	X-ray	260 A	A	1-1338	PDB
4UHX	X-ray	270 A	A	1-1338	PDB
5EPG	X-ray	339 A	A	1-1338	PDB
6Q6Q	X-ray	310 A	A	1-1338	PDB
7OPN	X-ray	260 A	A/B	1-1338	PDB
7ORC	X-ray	270 A	A/B	1-1338	PDB
8EMT	EM	292 A	A/B	1-1338	PDB
AF-Q06278-F1	Predicted				AlphaFoldDB

1196 variants for Q06278

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs867144952 CA63824272	3	R>L		No	ClinGen gnomAD
CA350271593 rs867144952	3	R>P		No	ClinGen gnomAD
CA350271591 rs867144952	3	R>Q		No	ClinGen gnomAD
rs757671419 CA63824267	3	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA63824278 rs867346030	4	A>E		No	ClinGen Ensembl
rs769152037 CA2048574	4	A>P		No	ClinGen ExAC TOPMed gnomAD
CA2048576 rs762680422	5	S>F		No	ClinGen ExAC TOPMed gnomAD
rs775253204 CA2048575	5	S>P		No	ClinGen ExAC gnomAD
rs1365395059 CA350271615	6	E>Q		No	ClinGen gnomAD
rs866735550 CA63824303	8	L>I		No	ClinGen Ensembl
COSM476733 rs768639507 CA2048577	9	F>C	kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA63824314 rs981535536	10	Y>*		No	ClinGen Ensembl
CA350271712 rs1234233604	13	G>C		No	ClinGen TOPMed
rs1033023961 CA63824321	13	G>D		No	ClinGen TOPMed
CA350271720 rs1293916577	14	R>G		No	ClinGen TOPMed gnomAD
CA350271723 rs774291174	14	R>H		No	ClinGen ExAC TOPMed gnomAD
CA2048578 rs774291174	14	R>L		No	ClinGen ExAC TOPMed gnomAD
CA350271721 rs1293916577	14	R>S		No	ClinGen TOPMed gnomAD
CA63828460 rs372717699	16	V>M		No	ClinGen ESP TOPMed gnomAD
CA350272846 rs1189258726	17	I>T		No	ClinGen gnomAD
rs774108736 CA2048596	20	N>I		No	ClinGen ExAC TOPMed
rs747997929 CA2048597	21	V>I		No	ClinGen ExAC gnomAD
rs576029615 CA2048599	22	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs576029615 CA350272878	22	D>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs760528585 CA2048600	24	E>K		No	ClinGen ExAC TOPMed gnomAD
CA2048601 rs766277206	25	T>R		No	ClinGen ExAC gnomAD
rs935599400 CA63828472	26	M>L		No	ClinGen Ensembl
CA350272905 rs1288889976	26	M>T		No	ClinGen gnomAD
CA350272913 rs1360771371	27	L>P		No	ClinGen TOPMed
CA63828480 rs894028050	28	L>F		No	ClinGen TOPMed
rs759566320 CA2048603	30	Y>H		No	ClinGen ExAC TOPMed gnomAD
rs142145534 CA2048604	32	R>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2048605 rs752882911 COSM209503	35	L>F	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA2048632 rs754596150	36	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA2048633 COSM3695186 rs778564006	36	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1267328396 CA350273568	37	L>I		No	ClinGen TOPMed
rs1225253123 CA350273582	38	T>K		No	ClinGen gnomAD
rs1485846521 CA350273596	39	G>V		No	ClinGen gnomAD
CA350273604 rs1234025333	40	T>S		No	ClinGen gnomAD
CA63829573 rs75351300	44	C>W		No	ClinGen Ensembl
CA2048635 rs370788470	46	G>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs777438300 CA2048636	48	G>S		No	ClinGen ExAC gnomAD
CA2048637 rs201585548	48	G>V		No	ClinGen 1000Genomes ExAC gnomAD
CA350273723 rs1442512591	49	C>S		No	ClinGen gnomAD
rs770724673 CA2048638	50	G>D		No	ClinGen ExAC gnomAD
CA63829602 rs368777501	50	G>S		No	ClinGen Ensembl
TCGA novel	51	A>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA350273744 rs1368932373	51	A>T		No	ClinGen gnomAD
rs200230521 CA2048639	52	C>G		No	ClinGen 1000Genomes ExAC gnomAD
rs567121211 CA2048640	53	T>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA350273778 rs1278716945	53	T>S		No	ClinGen gnomAD
CA350273788 rs1435982408	54	V>L		No	ClinGen gnomAD
CA2048641 rs769926071	55	M>V		No	ClinGen ExAC gnomAD
rs970267750 CA63829635	56	I>L		No	ClinGen Ensembl
CA350273830 rs1272210647	56	I>M		No	ClinGen TOPMed
rs775551141 CA2048642	57	S>*		No	ClinGen ExAC
CA2048643 rs145996657	58	R>*		No	ClinGen ESP ExAC gnomAD
CA2048644 rs768782250 COSM1691814	58	R>Q	skin [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1313915488 CA350273860	59	Y>H		No	ClinGen gnomAD
rs1316788488 CA350273894	60	N>K		No	ClinGen gnomAD
CA2048645 rs374158410	62	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1247930741 CA350273950	63	T>N		No	ClinGen Ensembl
CA2048647 rs767980144	66	I>L		No	ClinGen ExAC gnomAD
CA63829663 rs1017585277	66	I>T		No	ClinGen TOPMed
TCGA novel	67	R>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs767028799 CA2048667	67	R>S		No	ClinGen ExAC gnomAD
CA350274222 rs1472892914	68	H>P		No	ClinGen gnomAD
rs777167805 CA2048668	69	H>P		No	ClinGen ExAC
rs762414818 CA2048670	69	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs751235409 CA2048671	70	P>L		No	ClinGen ExAC gnomAD
rs934128307 CA63830331	72	N>K		No	ClinGen TOPMed
rs922767175 CA63830327	72	N>S		No	ClinGen Ensembl
CA350274288 rs1321429981	73	A>P		No	ClinGen TOPMed
rs1270095386 CA350274300	74	C>R		No	ClinGen TOPMed
CA350274303 rs1460747739	74	C>Y		No	ClinGen gnomAD
CA2048673 rs201859570	78	I>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA350274361 rs1343084926	79	C>Y		No	ClinGen gnomAD
CA2048674 rs767097930	80	S>F		No	ClinGen ExAC gnomAD
TCGA novel	80	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1328814131 CA350274396	82	Y>*		No	ClinGen TOPMed
rs755863547 CA2048676	82	Y>C		No	ClinGen ExAC gnomAD
rs1202125632 CA350274418	85	A>T		No	ClinGen gnomAD
rs200659056 CA2048679	86	V>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200659056 CA2048678	86	V>I	Variant assessed as Somatic; 4.623e-05 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1342080029 CA350274447	87	T>I		No	ClinGen TOPMed
rs1559231027 CA350274452	88	T>K		No	ClinGen Ensembl
CA350274474 rs1479028715	90	E>*		No	ClinGen gnomAD
CA350274484 rs1191874915	91	G>S		No	ClinGen TOPMed gnomAD
CA2048681 rs748181963	92	I>T		No	ClinGen ExAC gnomAD
CA350274499 rs1419011665	92	I>V		No	ClinGen gnomAD
rs376473793 CA63830347	93	G>R		No	ClinGen ESP TOPMed
rs772449063 CA2048682	96	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA2048683 rs773530848	97	T>I		No	ClinGen ExAC gnomAD
rs747423225 CA2048684	99	I>V		No	ClinGen ExAC gnomAD
CA2048685 rs564342009	100	H>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA350274603 rs1437940323	101	P>R		No	ClinGen gnomAD
CA2048686 rs777058510	101	P>S		No	ClinGen ExAC gnomAD
CA350274611 rs1274954658	103	Q>*		No	ClinGen gnomAD
rs761352819 CA2048710	104	E>K		No	ClinGen ExAC gnomAD
rs1413624173 CA350229395	105	R>G		No	ClinGen TOPMed
CA2048711 rs771547350	105	R>K		No	ClinGen ExAC gnomAD
CA2048712 rs200179474	106	I>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1210714476 CA350229472	108	K>N		No	ClinGen gnomAD
CA350229479 rs1248840293	109	C>R		No	ClinGen gnomAD
rs760326411 CA2048713	110	H>R		No	ClinGen ExAC TOPMed gnomAD
CA350229645 rs1182072567	111	G>D		No	ClinGen gnomAD
CA2048714 rs765890130	112	T>P		No	ClinGen ExAC gnomAD
CA63789104 rs931357187	116	F>S		No	ClinGen TOPMed
TCGA novel	116	F>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs759214228 CA2048716	117	C>Y		No	ClinGen ExAC gnomAD
rs765263245 CA2048717	118	T>S		No	ClinGen ExAC gnomAD
rs1388838100 CA350229842	119	P>R		No	ClinGen gnomAD
CA63789115 rs1055405038	119	P>T		No	ClinGen Ensembl
rs1331864700 CA350229866	120	G>E		No	ClinGen gnomAD
rs1451466122 CA350229852	120	G>R		No	ClinGen gnomAD
rs1191415502 CA350229898	121	M>I		No	ClinGen gnomAD
CA2048718 rs752662744	121	M>R		No	ClinGen ExAC gnomAD
CA2048719 rs369685838	122	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs777990998 CA2048720	124	S>A		No	ClinGen ExAC gnomAD
rs1348592769 CA350230025	124	S>C		No	ClinGen gnomAD
CA350230028 rs1348592769	124	S>F		No	ClinGen gnomAD
rs751618776 CA2048721	125	I>V		No	ClinGen ExAC TOPMed gnomAD
rs199984835 CA63789171	126	Y>*		No	ClinGen Ensembl
rs1323020890 CA350230065	126	Y>C		No	ClinGen gnomAD
rs757511529 CA2048722	126	Y>H		No	ClinGen ExAC gnomAD
CA2048723 rs781220563	127	T>M		No	ClinGen ExAC TOPMed gnomAD
CA350230097 rs781220563	127	T>R		No	ClinGen ExAC TOPMed gnomAD
rs1443319703 CA350230129	129	L>F		No	ClinGen gnomAD
rs1183207632 CA350230148	130	R>K		No	ClinGen TOPMed
rs780587326 CA2048726	133	P>S		No	ClinGen ExAC gnomAD
CA350230189 rs1559232049	134	E>D		No	ClinGen Ensembl
rs749791927 CA350230192	135	P>A		No	ClinGen ExAC gnomAD
CA2048727 rs749791927	135	P>T		No	ClinGen ExAC gnomAD
CA350230202 rs1468887478	137	L>M		No	ClinGen gnomAD
CA2048729 rs772723600	138	D>Y		No	ClinGen ExAC gnomAD
rs1403957543 CA350230214	139	Q>K		No	ClinGen gnomAD
CA2048730 rs760056523	140	L>*		No	ClinGen ExAC TOPMed gnomAD
CA350230224 rs760056523	140	L>S		No	ClinGen ExAC TOPMed gnomAD
rs1327965839 CA350230228	141	T>P		No	ClinGen gnomAD
CA2048732 rs202239603	142	D>G		No	ClinGen ExAC TOPMed gnomAD
rs776118835 CA2048733	143	A>D		No	ClinGen ExAC gnomAD
CA2048734 rs759428291	144	L>V		No	ClinGen ExAC gnomAD
CA350230269 rs536753018	145	G>C		No	ClinGen 1000Genomes ExAC gnomAD
rs536753018 CA2048735	145	G>S		No	ClinGen 1000Genomes ExAC gnomAD
CA2048736 rs144603555	146	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2048758 rs762784565	147	N>S		No	ClinGen ExAC gnomAD
TCGA novel	148	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	149	C>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2048760 rs377316171	150	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs377316171 CA2048759	150	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA2048761 rs540242322	150	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA63791583 rs540242322	150	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA350230742 rs1187528380	151	C>R		No	ClinGen gnomAD
CA350230744 rs1387995155	151	C>S		No	ClinGen gnomAD
rs767481638 CA2048762	152	T>A		No	ClinGen ExAC gnomAD
CA63791607 rs868087665	153	G>E		No	ClinGen TOPMed
CA2048764 rs201619596	154	Y>*		No	ClinGen 1000Genomes ExAC gnomAD
rs1384467392 CA350230763	154	Y>C		No	ClinGen gnomAD
rs1208737468 CA350230777	156	P>L		No	ClinGen TOPMed
CA63791655 rs1006368296	157	I>V		No	ClinGen TOPMed
CA2048767 rs754234851	158	I>T		No	ClinGen ExAC TOPMed gnomAD
CA350230796 rs370595819 CA2048769	159	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA2048770 rs374859799	161	C>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs780567839 CA2048772	163	T>P		No	ClinGen ExAC gnomAD
rs777819151 CA2048773	164	F>L		No	ClinGen ExAC gnomAD
CA350230824 rs1320375188	164	F>L		No	ClinGen gnomAD
rs1559233259 CA350230833	165	C>Y		No	ClinGen Ensembl
rs368656069 CA2048791	168	S>L		No	ClinGen ESP ExAC gnomAD
rs1330680669 CA350231702	169	G>C		No	ClinGen gnomAD
CA2048792 rs755652086	173	S>G		No	ClinGen ExAC gnomAD
TCGA novel	175	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2048793 rs779900372	176	N>Y		No	ClinGen ExAC gnomAD
CA2048794 rs542431016	177	G>E		No	ClinGen 1000Genomes ExAC gnomAD
CA350231928 rs542431016	177	G>V		No	ClinGen 1000Genomes ExAC gnomAD
CA2048795 rs768639406	178	V>F		No	ClinGen ExAC TOPMed gnomAD
rs1559233621 CA350231994	180	C>S		No	ClinGen Ensembl
CA350232062 rs1338790587	182	D>E		No	ClinGen TOPMed
CA63792624 rs980368912	182	D>H		No	ClinGen TOPMed gnomAD
CA350232039 COSM719847 rs980368912	182	D>Y	lung [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA2048796 rs778585898	184	G>V		No	ClinGen ExAC TOPMed gnomAD
CA2048797 rs747927893	187	G>E		No	ClinGen ExAC gnomAD
CA350232170 rs1180021086	188	L>W		No	ClinGen gnomAD
CA2048798 rs771935952	189	P>A		No	ClinGen ExAC gnomAD
CA350232195 rs1472993747	189	P>L		No	ClinGen gnomAD
TCGA novel	190	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	190	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs773171778 CA2048799	191	F>I		No	ClinGen ExAC gnomAD
TCGA novel	194	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2048801 rs770987381	195	S>I		No	ClinGen ExAC TOPMed gnomAD
CA350232322 rs770987381	195	S>N		No	ClinGen ExAC TOPMed gnomAD
CA63792668 rs906812759	195	S>R		No	ClinGen TOPMed gnomAD
rs1225957961 CA350232459	198	S>T		No	ClinGen TOPMed gnomAD
CA2048818 rs770784669	199	P>L		No	ClinGen ExAC TOPMed gnomAD
rs746941935 CA2048817	199	P>S		No	ClinGen ExAC gnomAD
rs759568130 CA2048821	203	A>S		No	ClinGen ExAC TOPMed gnomAD
CA2048820 rs759568130	203	A>T		No	ClinGen ExAC TOPMed gnomAD
CA2048822 rs775752418	205	E>G		No	ClinGen ExAC TOPMed gnomAD
CA350232619 rs1391263206	210	L>S		No	ClinGen gnomAD
CA2048824 rs529389023	212	P>A		No	ClinGen 1000Genomes ExAC gnomAD
CA2048825 rs775065999	212	P>L		No	ClinGen ExAC gnomAD
CA350232651 rs1347598758	213	T>N		No	ClinGen gnomAD
CA2048826 rs762415096	218	F>L		No	ClinGen ExAC TOPMed gnomAD
rs1326132814 CA350232741	219	P>L		No	ClinGen gnomAD
rs1364050940 CA350232803 COSM573020	223	M>I	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
rs932958420 CA63793486	223	M>T		No	ClinGen Ensembl
CA2048847 rs773831450	225	M>I		No	ClinGen ExAC gnomAD
CA2048846 rs148372165	225	M>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA63793923 rs560366294	227	E>K		No	ClinGen 1000Genomes
TCGA novel	228	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1218416632 CA350232955	229	Q>E		No	ClinGen TOPMed
rs1208487058 CA350232957	229	Q>R		No	ClinGen gnomAD
rs752078493 CA2048850	230	S>L		No	ClinGen ExAC gnomAD
rs751391665 CA2048853	233	T>N		No	ClinGen ExAC gnomAD
rs781159144 CA2048855	235	V>A		No	ClinGen ExAC gnomAD
CA350233053 rs781159144	235	V>G		No	ClinGen ExAC gnomAD
CA350233045 rs1160900341	235	V>L		No	ClinGen TOPMed gnomAD
rs570720452 CA2048856	236	F>L		No	ClinGen 1000Genomes ExAC gnomAD
rs1331955915 CA350233077	237	G>D		No	ClinGen gnomAD
CA2048857 rs756216774	239	E>D		No	ClinGen ExAC TOPMed gnomAD
rs142414478 CA2048858	240	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	240	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA350233147 rs1174985928	241	M>T		No	ClinGen TOPMed
CA2048859 rs749270535	242	M>I		No	ClinGen ExAC gnomAD
rs769030186 CA2048860	243	W>C		No	ClinGen ExAC gnomAD
rs774683553 CA2048861	244	F>I		No	ClinGen ExAC gnomAD
CA350233203 rs1344615662 CA350233206	244	F>L		No	ClinGen gnomAD
rs748570268 CA2048862	244	F>Y		No	ClinGen ExAC gnomAD
rs1413117016 CA350233212	245	S>P		No	ClinGen TOPMed
CA2048863 rs538141326	246	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1559234318	247	V>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA2048867 rs775083416	247	V>A		No	ClinGen ExAC gnomAD
CA2048866 rs761245144	247	V>L		No	ClinGen ExAC TOPMed gnomAD
CA2048865 rs761245144	247	V>M		No	ClinGen ExAC TOPMed gnomAD
CA2048868 rs549510417	251	E>K		No	ClinGen 1000Genomes ExAC gnomAD
CA350233290 rs763779176	252	L>M		No	ClinGen ExAC gnomAD
rs751193616 CA350233291	252	L>Q		No	ClinGen ExAC TOPMed gnomAD
rs751193616 CA2048870	252	L>R		No	ClinGen ExAC TOPMed gnomAD
CA2048869 rs763779176	252	L>V		No	ClinGen ExAC gnomAD
CA2048872 rs767296439	254	E>K		No	ClinGen ExAC gnomAD
rs750120320 CA2048873	256	K>E		No	ClinGen ExAC gnomAD
rs1427003492 CA350233320	257	F>L		No	ClinGen gnomAD
CA63794022 rs111418349	257	F>L		No	ClinGen TOPMed gnomAD
rs756091497 CA2048874	258	K>R		No	ClinGen ExAC gnomAD
CA63794026 rs1014279970	260	P>L		No	ClinGen TOPMed gnomAD
rs1329625285 CA350233349	261	Q>*		No	ClinGen gnomAD
rs1269728643 CA350233356	262	A>S		No	ClinGen TOPMed
rs1330680173 CA350233372	264	V>G		No	ClinGen gnomAD
CA350233369 rs1228808534	264	V>L		No	ClinGen TOPMed
CA350233385 rs1574913939	266	M>I		No	ClinGen Ensembl
CA2048875 rs779807420	266	M>V		No	ClinGen ExAC gnomAD
CA350233407 rs1276877290	269	T>I		No	ClinGen gnomAD
rs1228161467 CA350233409	270	S>P		No	ClinGen gnomAD
CA350233415 rs1273062026	271	V>L		No	ClinGen TOPMed gnomAD
CA350233414 rs1273062026	271	V>M		No	ClinGen TOPMed gnomAD
CA2048910 rs747444891	272	G>V		No	ClinGen ExAC gnomAD
CA2048877 rs755085900	272	G>W		No	ClinGen ExAC TOPMed gnomAD
CA350234335 rs1163274156	275	V>E		No	ClinGen TOPMed
rs1312571666 CA350234388	276	K>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs781753651 CA2048912	277	F>Y		No	ClinGen ExAC TOPMed gnomAD
rs746371880 CA2048913	278	K>E		No	ClinGen ExAC gnomAD
rs770220813 CA2048914	279	G>C		No	ClinGen ExAC gnomAD
CA2048915 rs773865710	279	G>D		No	ClinGen ExAC gnomAD
CA350234491 rs373426863	280	V>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2048916 rs373426863	280	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2048917 rs373426863	280	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2048919 rs760576452	281	F>L		No	ClinGen ExAC gnomAD
rs766081863 CA2048920	283	P>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	283	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2048921 rs776419502	288	P>S		No	ClinGen ExAC gnomAD
rs1190056952 CA350234906	295	S>N		No	ClinGen TOPMed gnomAD
CA350234918 rs1209307873	296	V>I		No	ClinGen TOPMed
rs1157188895 CA350235018	299	H>L		No	ClinGen TOPMed gnomAD
CA350235014 rs1157188895	299	H>R		No	ClinGen TOPMed gnomAD
CA350235037 rs1454593516	300	A>E		No	ClinGen gnomAD
rs1277003493 CA350235027	300	A>T		No	ClinGen TOPMed
CA2048923 rs371355321	301	Y>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA350235047 rs371355321	301	Y>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs1398289107 CA350235055	301	Y>S		No	ClinGen gnomAD
rs1341751096 CA350235076	302	N>D		No	ClinGen TOPMed
CA350235088 rs1314089917	302	N>K		No	ClinGen gnomAD
CA350235083 rs1296549911	302	N>S		No	ClinGen TOPMed
rs752850873 CA2048924	303	G>*		No	ClinGen ExAC gnomAD
rs776588487 CA2048938	303	G>E		No	ClinGen ExAC TOPMed gnomAD
rs1374957583 CA350236589	305	T>I		No	ClinGen gnomAD
rs1391610865 CA350236596	306	L>F		No	ClinGen gnomAD
rs759360483 CA2048939	307	G>C		No	ClinGen ExAC
rs765302652 CA2048940	307	G>D		No	ClinGen ExAC gnomAD
CA350236623 rs1559236104	308	A>T		No	ClinGen Ensembl
CA350236637 rs1310195574	308	A>V		No	ClinGen gnomAD
rs1439605973 CA350236697	312	L>P		No	ClinGen gnomAD
rs58185012 CA2048941 VAR_061136 RCV000946661	314	Q>R		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs764079026 CA2048943	318	I>M		No	ClinGen ExAC gnomAD
rs1203037130 CA350236840	320	A>T		No	ClinGen gnomAD
rs755665118 CA63797390	321	D>V		No	ClinGen TOPMed gnomAD
CA350236883 rs1450870221	322	V>G		No	ClinGen TOPMed
rs1265591191 CA350236887	323	V>I		No	ClinGen gnomAD
TCGA novel	328	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA63797394 rs975692005	328	E>K		No	ClinGen TOPMed
rs757435420 CA2048945	329	E>G		No	ClinGen ExAC gnomAD
rs1174665586 CA350237104	332	Q>R		No	ClinGen gnomAD
CA63797414 rs148476608	333	M>V		No	ClinGen ESP
CA350237143 rs1197444857	334	Y>H		No	ClinGen TOPMed
CA2048947 rs571143352	335	H>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs113152957 CA350237178	336	A>S		No	ClinGen gnomAD
CA63797442 rs113152957	336	A>T		No	ClinGen gnomAD
rs866416276 CA63797456	337	L>P		No	ClinGen Ensembl
rs750818785 CA2048948	339	K>T		No	ClinGen ExAC gnomAD
CA2048949 rs756440136	340	H>Y		No	ClinGen ExAC gnomAD
rs780595492 CA2048950	343	T>S		No	ClinGen ExAC gnomAD
TCGA novel	345	A>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs35128788 CA2048951	346	G>R		No	ClinGen ExAC TOPMed gnomAD
CA2048952 rs775029057	348	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA63797560 rs960505211	349	I>F		No	ClinGen Ensembl
CA350237396 rs1452988338	350	R>G		No	ClinGen gnomAD
rs1220952473 CA350237447 CA350237446 CA350237449	352	M>I		No	ClinGen TOPMed gnomAD
rs1468717488 CA350237434	352	M>V		No	ClinGen Ensembl
rs762361811 CA63797576	353	A>T		No	ClinGen Ensembl
CA350237556 rs1398696052	356	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA63797791 rs929428938	357	G>R		No	ClinGen Ensembl
rs745515317 CA350237607	359	I>L		No	ClinGen ExAC TOPMed gnomAD
rs745515317 CA2048976	359	I>V		No	ClinGen ExAC TOPMed gnomAD
rs769506415 CA2048977	362	R>G		No	ClinGen ExAC gnomAD
CA63797813 rs554649469	363	H>Q		No	ClinGen 1000Genomes
CA2048978 rs780011035	363	H>Y		No	ClinGen ExAC gnomAD
CA2048979 rs749063275	364	P>T		No	ClinGen ExAC gnomAD
rs1047278931 CA63797821	366	S>*		No	ClinGen Ensembl
COSM3364485 rs867328328 CA63797827	367	D>N	kidney [Cosmic]	No	ClinGen cosmic curated gnomAD
CA2048982 rs774313448	374	V>L		No	ClinGen ExAC gnomAD
CA350237812 rs774313448	374	V>M		No	ClinGen ExAC gnomAD
CA2048983 rs761848463	375	G>D		No	ClinGen ExAC TOPMed gnomAD
rs1440129547 CA350237824	376	N>T		No	ClinGen TOPMed
CA63797898 rs1005668863	378	T>A		No	ClinGen Ensembl
rs772133818 CA2048984	379	L>R		No	ClinGen ExAC gnomAD
CA350237848 rs1260284882	380	N>D		No	ClinGen TOPMed gnomAD
CA2048985 rs773209019	381	L>F		No	ClinGen ExAC gnomAD
rs760898835 CA2048986	382	L>P		No	ClinGen ExAC gnomAD
CA63797923 rs936257576	383	S>*		No	ClinGen Ensembl
CA350239182 rs1167957682	385	E>G		No	ClinGen gnomAD
CA2048987 rs766537964	385	E>K		No	ClinGen ExAC TOPMed gnomAD
rs773300881 CA2049005	386	G>*		No	ClinGen ExAC gnomAD
rs773300881 CA2049004	386	G>R		No	ClinGen ExAC gnomAD
rs1329727839 CA350239238	387	K>N		No	ClinGen gnomAD
CA2049007 rs370447959	388	R>*		No	ClinGen ESP ExAC TOPMed gnomAD
COSM1723465 CA2049008 rs147455669	388	R>Q	NS [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA350239265 rs1179169587	389	Q>L		No	ClinGen TOPMed
rs763571283 CA2049011	391	P>L		No	ClinGen ExAC TOPMed gnomAD
CA2049010 rs775654597	391	P>S		No	ClinGen ExAC gnomAD
rs1258622819 CA350239320	393	N>S		No	ClinGen TOPMed
CA2049012 rs764650577	394	E>*		No	ClinGen ExAC TOPMed gnomAD
CA350239328 rs764650577	394	E>K		No	ClinGen ExAC TOPMed gnomAD
rs749984777 CA350239335	395	Q>E		No	ClinGen ExAC TOPMed gnomAD
rs1197069944 CA350239349	395	Q>H		No	ClinGen gnomAD
CA2049013 rs749984777	395	Q>K		No	ClinGen ExAC TOPMed gnomAD
CA2049014 rs201249186	396	F>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1467765553 CA350239374	396	F>L		No	ClinGen gnomAD
CA350239367 rs201249186	396	F>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2049015 rs765999540	398	S>N		No	ClinGen ExAC TOPMed gnomAD
rs1559237220 CA350239406	400	C>F		No	ClinGen Ensembl
rs753517873 CA2049016	401	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs753517873 CA350239410	401	P>T		No	ClinGen ExAC gnomAD
rs1476407480 CA350239452	403	A>S		No	ClinGen gnomAD
CA350239472 rs1247229483	404	D>V		No	ClinGen TOPMed
rs778780453 CA350239506	406	K>N		No	ClinGen ExAC gnomAD
CA63799877 rs865907057	407	P>A		No	ClinGen Ensembl
TCGA novel	409	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1356381447 CA350239555	409	E>G		No	ClinGen TOPMed
rs1559237264 CA350239639	414	V>G		No	ClinGen Ensembl
rs1032545482 CA63799913	416	I>V		No	ClinGen TOPMed gnomAD
rs777652322 CA2049021	417	P>S		No	ClinGen ExAC
rs747135917 CA2049022	418	Y>C		No	ClinGen ExAC gnomAD
TCGA novel	419	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2049023 rs770982946	420	R>T		No	ClinGen ExAC TOPMed gnomAD
CA2049039 rs751491801	422	W>*		No	ClinGen ExAC TOPMed gnomAD
rs757078814 CA2049040	423	E>K		No	ClinGen ExAC gnomAD
CA350239963 rs781348578	425	V>A		No	ClinGen ExAC TOPMed gnomAD
rs781348578 CA2049041	425	V>G		No	ClinGen ExAC TOPMed gnomAD
rs1258722376 CA350239969	426	S>P		No	ClinGen TOPMed gnomAD
CA350239992 rs1352626906	427	A>V		No	ClinGen gnomAD
rs1205627889 CA350239996	428	F>L		No	ClinGen gnomAD
rs745890622 CA2049042	429	R>*		No	ClinGen ExAC TOPMed gnomAD
CA2049043 rs149229670	429	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA350240053 rs1190159171	431	A>T		No	ClinGen TOPMed gnomAD
rs780109022 COSM1183090 CA2049044	433	R>*	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA2049045 rs145889928	433	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs145889928 CA2049046	433	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA2049047 rs775066127	434	Q>*		No	ClinGen ExAC gnomAD
CA350240157 rs1477876544	435	E>*		No	ClinGen TOPMed gnomAD
CA63800947 rs896852817	436	N>D		No	ClinGen TOPMed gnomAD
CA350240202 rs1163112860	436	N>I		No	ClinGen TOPMed
CA350240198 rs1163112860	436	N>S		No	ClinGen TOPMed
CA2049051 rs368293055	437	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA2049054 rs752328961	438	L>V		No	ClinGen ExAC gnomAD
CA2049055 rs140711482	439	A>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs1304483788 CA350240261	439	A>T		No	ClinGen TOPMed gnomAD
CA2049056 rs140711482	439	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA2049058 rs757243716	440	I>K		No	ClinGen ExAC gnomAD
rs747305280 CA63800999	440	I>M		No	ClinGen Ensembl
rs757243716 CA2049059	440	I>T		No	ClinGen ExAC gnomAD
CA63801004 rs969859051	441	V>A		No	ClinGen TOPMed
CA350240314 rs1345659875	441	V>I		No	ClinGen TOPMed gnomAD
CA2049061 rs756126754	442	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1431422732 CA350240373	443	S>L		No	ClinGen TOPMed
CA350240390 rs1380272490	444	G>R		No	ClinGen gnomAD
CA350240425 rs1175676994	445	M>I		No	ClinGen TOPMed gnomAD
CA350240419 rs1363801216	445	M>T		No	ClinGen TOPMed
CA350240436 rs1252954914	446	R>G		No	ClinGen gnomAD
rs1394841752 CA350240498	448	F>Y		No	ClinGen TOPMed
TCGA novel	450	G>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1420008087 CA350240568	451	E>G		No	ClinGen TOPMed gnomAD
CA2049064 rs768934046	452	G>R		No	ClinGen ExAC TOPMed gnomAD
CA2049065 rs779441904	453	D>N		No	ClinGen ExAC gnomAD
rs137857697 COSM1014725 CA350240622	454	G>D	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP NCI-TCGA TOPMed gnomAD
rs137857697 CA63801059	454	G>V		No	ClinGen ESP TOPMed gnomAD
CA63801103 rs979949542	455	I>F		No	ClinGen TOPMed
CA350240644 rs1403513913	456	I>F		No	ClinGen Ensembl
rs748420142 CA2049068	456	I>S		No	ClinGen ExAC gnomAD
CA2049066 rs1403513913	456	I>V		No	ClinGen Ensembl
rs759692972 CA63801156	457	R>G		No	ClinGen TOPMed gnomAD
rs759139777 CA2049071	460	C>Y		No	ClinGen ExAC TOPMed gnomAD
rs1574920950 CA350240748	461	I>T		No	ClinGen Ensembl
CA350240744 rs1302400056	461	I>V		No	ClinGen gnomAD
CA63801200 rs374055393	462	S>L		No	ClinGen ESP TOPMed
CA63801213 rs868406009	464	G>R		No	ClinGen Ensembl
CA63801221 rs772155182	465	G>D		No	ClinGen TOPMed gnomAD
CA63801229 rs954287783	466	V>A		No	ClinGen TOPMed
CA350240809 rs954287783	466	V>G		No	ClinGen TOPMed
rs775871249 CA2049074	466	V>I		No	ClinGen ExAC TOPMed gnomAD
rs751391691 CA2049076	471	I>N		No	ClinGen ExAC gnomAD
CA2049075 rs763690832	471	I>V		No	ClinGen ExAC gnomAD
CA2049077 rs72551311	473	A>V		No	ClinGen ExAC gnomAD
TCGA novel	476	S>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA350240939 rs1213363698	477	C>W		No	ClinGen gnomAD
CA2049078 rs767540453	478	Q>*		No	ClinGen ExAC gnomAD
rs750314683 CA2049079	478	Q>R		No	ClinGen ExAC gnomAD
TCGA novel	480	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA350240975 rs1194756518	481	I>L		No	ClinGen gnomAD
CA350240981 rs1419468984	481	I>T		No	ClinGen TOPMed gnomAD
rs546994774 CA2049080	482	G>E		No	ClinGen 1000Genomes ExAC gnomAD
CA63801267 rs992531832	482	G>R		No	ClinGen TOPMed
CA2049098 rs766378727	484	H>R		No	ClinGen ExAC gnomAD
CA350241798 rs1284006923	486	N>D		No	ClinGen gnomAD
rs150771380 CA2049100	487	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1243220247 CA350241837	488	Q>*		No	ClinGen gnomAD
CA63802378 rs796754475	489	M>I		No	ClinGen Ensembl
rs1201350188 CA350241855	489	M>V		No	ClinGen TOPMed
CA63802407 rs879593513	492	I>V		No	ClinGen gnomAD
rs143692548 CA2049102	493	A>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs765612875 CA2049101 COSM1014726	493	A>T	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1451375590 CA350241917	494	C>F		No	ClinGen gnomAD
CA350241922 rs1475976051	495	R>G		No	ClinGen TOPMed gnomAD
CA350241937 rs1406936963	497	I>F		No	ClinGen gnomAD
CA350241936 rs1406936963	497	I>V		No	ClinGen gnomAD
CA2049104 rs778010282	499	N>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1315510088 CA350241954	500	E>K		No	ClinGen TOPMed
CA350241967 rs1315382589	501	V>G		No	ClinGen TOPMed
rs201421164 CA2049105	503	L>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1000061218 CA63802457	505	G>D		No	ClinGen TOPMed
rs1434121712 CA350241992	506	S>A		No	ClinGen TOPMed gnomAD
CA2049107 rs372254242	506	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA350241998 rs759164141	507	A>E		No	ClinGen ExAC TOPMed gnomAD
rs768141119 CA2049109	507	A>T		No	ClinGen ExAC gnomAD
CA2049110 COSM309180 rs759164141	507	A>V	lung large_intestine central_nervous_system [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA350242002 rs1230063917	508	P>S		No	ClinGen TOPMed gnomAD
CA350242022 rs1225861906	511	K>R		No	ClinGen gnomAD
TCGA novel	516	R>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1181279674 CA350242115	517	T>I		No	ClinGen TOPMed
rs1248188592 CA350242196	521	S>N		No	ClinGen TOPMed
TCGA novel	522	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA63802554 rs139831421	523	L>F		No	ClinGen ESP TOPMed gnomAD
CA2049115 rs144299786	525	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1178743003 CA350242417	529	E>Q		No	ClinGen TOPMed gnomAD
CA2049117 rs139759783	531	S>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs765409030 CA2049119	532	Q>H		No	ClinGen ExAC gnomAD
CA2049118 rs759752004	532	Q>K		No	ClinGen ExAC gnomAD
rs1415133711 CA350242536	533	I>V		No	ClinGen gnomAD
rs1559238621 CA350242581	534	L>S		No	ClinGen Ensembl
CA2049120 rs752761750	535	K>E		No	ClinGen ExAC gnomAD
rs1352980621 CA350242610	535	K>R		No	ClinGen gnomAD
CA63802609 rs936999525	536	K>T		No	ClinGen TOPMed
CA350243645 rs1421864137	538	D>E		No	ClinGen TOPMed
rs756638287 CA2049144	538	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
TCGA novel	539	P>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2049146 rs752197049	542	Y>*		No	ClinGen ExAC TOPMed gnomAD
rs975212209 CA63806066	543	P>L		No	ClinGen Ensembl
rs1269300873 CA350243689	545	L>F		No	ClinGen TOPMed gnomAD
rs1452092511 CA350243702	547	D>A		No	ClinGen TOPMed gnomAD
CA2049148 rs777354923 CA350243705	547	D>E		No	ClinGen ExAC gnomAD
rs1452092511 CA350243704	547	D>G		No	ClinGen TOPMed gnomAD
CA350243701 rs1490837935	547	D>N		No	ClinGen TOPMed
rs1449411133 CA350243724	549	Y>C		No	ClinGen TOPMed
rs1221001712 CA350243716	549	Y>H		No	ClinGen TOPMed
CA350243756 rs1371376027	551	S>N		No	ClinGen gnomAD
TCGA novel	551	S>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2049149 rs746660834	552	A>T		No	ClinGen ExAC gnomAD
CA2049152 rs745617267	555	D>G		No	ClinGen ExAC gnomAD
CA2049153 rs769661664	556	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA63806127 rs1046725193	557	H>R		No	ClinGen TOPMed gnomAD
rs1214836515 CA350243842	557	H>Y		No	ClinGen TOPMed
rs1316908345 CA350243887	560	H>Y		No	ClinGen gnomAD
CA350243932 rs1276764023	562	C>*		No	ClinGen TOPMed
rs775478431 CA2049154	563	S>G		No	ClinGen ExAC gnomAD
CA350243980 rs1225749581	565	L>*		No	ClinGen TOPMed
rs749390148 CA2049155	565	L>F		No	ClinGen ExAC gnomAD
CA350243987 rs1346618457	566	K>E		No	ClinGen TOPMed
rs768781626 CA2049156	567	Y>H		No	ClinGen ExAC TOPMed gnomAD
CA350244003 rs768781626	567	Y>N		No	ClinGen ExAC TOPMed gnomAD
CA2049157 rs774349285	568	Q>K		No	ClinGen ExAC TOPMed gnomAD
CA350244028 rs1231133563	568	Q>R		No	ClinGen gnomAD
CA2049172 rs749253693	571	G>D		No	ClinGen ExAC gnomAD
CA350245002 rs1258821334	574	Q>*		No	ClinGen TOPMed gnomAD
rs1258821334 CA350245004	574	Q>K		No	ClinGen TOPMed gnomAD
CA350245034 rs1217339529	575	H>Q		No	ClinGen gnomAD
rs768420467 CA2049173	575	H>R		No	ClinGen ExAC TOPMed gnomAD
CA350245039 rs571715712	576	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2049174 rs571715712	576	P>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	578	D>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA63809248 rs868609646	578	D>V		No	ClinGen Ensembl
CA2049177 COSM272341 rs772327917	580	I>T	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA2049176 rs748188728	580	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1049755366 CA63809253	583	P>S		No	ClinGen Ensembl
CA2049178 rs773407831	585	M>I		No	ClinGen ExAC TOPMed gnomAD
CA350245177 rs1418798673	585	M>T		No	ClinGen gnomAD
CA2049180 rs373513974	586	H>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA2049179 rs373513974	586	H>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA2049181 rs776798376	588	S>Y		No	ClinGen ExAC gnomAD
rs111226074 CA63809280	590	V>A		No	ClinGen Ensembl
rs1374295191 CA350245240	590	V>M		No	ClinGen gnomAD
rs1355311893 CA350245276	591	K>R		No	ClinGen TOPMed
CA2049182 rs760108206	594	T>M		No	ClinGen ExAC TOPMed gnomAD
rs751152293 CA350245369	595	G>A		No	ClinGen ExAC TOPMed gnomAD
rs751152293 CA2049184	595	G>E		No	ClinGen ExAC TOPMed gnomAD
CA2049186 rs148848561	596	E>*		No	ClinGen ESP ExAC TOPMed gnomAD
RCV000948612 rs143935618 CA2049188	598	I>N		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA350245455 rs1041271793	599	Y>C		No	ClinGen TOPMed gnomAD
rs1041271793 CA63809331 COSM367289	599	Y>F	lung [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA350245444 rs1302614364	599	Y>H		No	ClinGen gnomAD
rs1233098357 CA350245515	602	D>N		No	ClinGen TOPMed
rs748988582 CA2049190	603	M>T		No	ClinGen ExAC gnomAD
CA350245566 rs1480420771	604	P>L		No	ClinGen gnomAD
CA350245569 rs1480420771	604	P>R		No	ClinGen gnomAD
CA350245559 rs1339647384	604	P>T		No	ClinGen TOPMed
rs1240376603 CA350245582	605	L>P		No	ClinGen gnomAD
rs201435669 CA2049192	606	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1354049222 CA350245635	607	D>E		No	ClinGen gnomAD
CA350245614 rs1254446991	607	D>H		No	ClinGen Ensembl
CA63809381 rs763411021	613	T>I		No	ClinGen Ensembl
rs897355329 CA63809397	616	T>I		No	ClinGen gnomAD
CA2049196 rs747268986	618	S>A		No	ClinGen ExAC gnomAD
rs1402141449 CA350245938	620	A>V		No	ClinGen gnomAD
rs1447290747 CA350245945	621	H>Y		No	ClinGen gnomAD
CA2049197 rs370784440	622	A>S		No	ClinGen ESP ExAC gnomAD
CA2049199 rs759785963	623	K>R		No	ClinGen ExAC TOPMed gnomAD
rs146219485 CA2049217	627	I>S		No	ClinGen ESP ExAC TOPMed
CA350246226 rs1485223574	628	D>Y		No	ClinGen gnomAD
rs775931061 CA2049219	629	L>P		No	ClinGen ExAC gnomAD
CA2049220 rs546979633	631	E>D		No	ClinGen 1000Genomes ExAC gnomAD
CA350246324 rs1477942622	632	A>S		No	ClinGen TOPMed gnomAD
CA350246338 rs1470233256	632	A>V		No	ClinGen TOPMed
rs769240679 CA2049221	634	S>G		No	ClinGen ExAC gnomAD
rs1559242153 CA350246391	634	S>N		No	ClinGen Ensembl
rs1209348158 CA350246485	637	G>A		No	ClinGen TOPMed
rs760074982 COSM1014730 CA2049223	637	G>S	Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs554190492 CA63809687	639	V>M		No	ClinGen Ensembl
rs766107048 CA2049224	640	D>G		No	ClinGen ExAC gnomAD
CA2049225 rs753425603	642	M>V		No	ClinGen ExAC gnomAD
CA2049226 rs376178947	643	T>S		No	ClinGen ESP ExAC gnomAD
rs765025545 CA2049227	644	A>T		No	ClinGen ExAC gnomAD
rs1354466784 CA350246691	646	H>L		No	ClinGen TOPMed
rs1354466784 CA350246694	646	H>R		No	ClinGen TOPMed
rs1229322050 CA350246711	647	L>F		No	ClinGen TOPMed
CA350246714 rs1342691638	647	L>P		No	ClinGen TOPMed
rs1414375899 CA350246749	649	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA2049229 rs777309422	650	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs770755070	653	F>missing	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA2049231 rs777540108	653	F>V		No	ClinGen ExAC TOPMed gnomAD
CA350246892 rs1385782137	654	C>Y		No	ClinGen TOPMed
CA350246921 rs1388117553	655	F>Y		No	ClinGen TOPMed
CA350246962 rs751707771	656	F>L		No	ClinGen ExAC TOPMed gnomAD
rs139784636 CA2049233	659	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA63809754 rs1053787911	663	L>P		No	ClinGen TOPMed
COSM1183094 CA2049235 rs146370823	664	A>V	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA350247222 rs1235410558	666	D>G		No	ClinGen gnomAD
rs1574929218 CA350247210	666	D>H		No	ClinGen Ensembl
CA2049237 rs368427063	667	K>E		No	ClinGen ESP ExAC gnomAD
CA2049258 rs749722908	669	F>Y		No	ClinGen ExAC TOPMed gnomAD
CA2049260 rs779268030	671	V>M		No	ClinGen ExAC gnomAD
rs1415228759 CA350249413	673	Q>H		No	ClinGen gnomAD
rs1285354304 CA350249389	673	Q>P		No	ClinGen TOPMed
CA2049261 rs200732153	674	L>F		No	ClinGen 1000Genomes ExAC gnomAD
rs199714836 CA2049263	675	V>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA2049262 rs772578048	675	V>F		No	ClinGen ExAC gnomAD
CA63811313 rs879150013	676	C>G		No	ClinGen Ensembl
rs376447131 CA63811325	677	A>V		No	ClinGen ESP TOPMed
TCGA novel	678	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	680	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2049265 rs369839297	681	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs762801457 CA2049267	684	V>F		No	ClinGen ExAC gnomAD
rs763802709 CA2049268	685	Q>R		No	ClinGen ExAC gnomAD
CA350249611 rs1240288725	686	A>E		No	ClinGen TOPMed gnomAD
CA350249609 rs1240288725	686	A>V		No	ClinGen TOPMed gnomAD
CA2049269 rs774139908	687	K>E		No	ClinGen ExAC TOPMed gnomAD
rs767452787 CA2049271	688	R>*		No	ClinGen ExAC gnomAD
rs140180293 CA2049272	688	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs533681648 CA2049273	689	A>T		No	ClinGen 1000Genomes ExAC gnomAD
rs151132832 CA2049275	692	R>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA350249763 rs1424482029	692	R>Q		No	ClinGen TOPMed gnomAD
rs1478408151 CA350249790	694	K>R		No	ClinGen gnomAD
rs755166319 CA2049276	695	I>V		No	ClinGen ExAC gnomAD
CA350249851 rs1574931506	696	V>A		No	ClinGen Ensembl
rs907183167 CA63811359	696	V>I		No	ClinGen TOPMed
CA2049279 rs758868799	698	Q>R		No	ClinGen ExAC gnomAD
rs1326170834 CA350249969	700	L>W		No	ClinGen gnomAD
rs769287932 CA2049282	702	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1436581010 CA350250004	702	P>S		No	ClinGen gnomAD
TCGA novel	702	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs748908634 CA2049284	703	L>R		No	ClinGen ExAC gnomAD
rs1574931541 CA350250030	704	I>T		No	ClinGen Ensembl
CA350250025 rs1258436516	704	I>V		No	ClinGen gnomAD
CA2049285 rs370858384	706	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs552724255 CA2049287	707	I>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs774046310 CA2049286	707	I>V		No	ClinGen ExAC gnomAD
CA63813466 rs374677654	711	I>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs374677654 CA2049316	711	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs767981569 CA2049317	712	Q>*		No	ClinGen ExAC gnomAD
rs1478371343 CA350250324	712	Q>R		No	ClinGen TOPMed
TCGA novel	713	H>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1396151874 CA350250384	715	S>Y		No	ClinGen Ensembl
CA350250412 rs1191956719	717	F>L		No	ClinGen TOPMed
CA350250423 rs1459302804	717	F>Y		No	ClinGen TOPMed
rs753341782 CA2049319	718	K>M		No	ClinGen ExAC gnomAD
rs754501407 CA2049320	719	P>L		No	ClinGen ExAC gnomAD
CA2049321 rs778499722	720	E>D		No	ClinGen ExAC gnomAD
rs747844388 CA2049322	721	R>M		No	ClinGen ExAC gnomAD
CA350250494 rs1174016590	722	K>Q		No	ClinGen gnomAD
rs1402582333 CA350250554	723	L>Q		No	ClinGen gnomAD
rs1445813449 CA350250574	724	E>K		No	ClinGen TOPMed gnomAD
CA2049325 rs746765229	726	G>E		No	ClinGen ExAC gnomAD
CA350250672 rs1185440038	728	V>I		No	ClinGen gnomAD
CA2049327 rs776616797	730	E>K		No	ClinGen ExAC TOPMed gnomAD
CA2049328 rs770674125	731	A>G		No	ClinGen ExAC TOPMed gnomAD
CA63813517 rs543416292	732	F>L		No	ClinGen Ensembl
CA2049330 rs775372663	733	K>T		No	ClinGen ExAC gnomAD
rs774068138 CA63813522	734	V>A		No	ClinGen Ensembl
rs1240476001 CA350250922	736	D>Y		No	ClinGen gnomAD
CA2049332 rs764262062	737	Q>E		No	ClinGen ExAC TOPMed gnomAD
COSM1014731 CA2049335 rs767970704	739	L>I	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA63813542 rs550616836	740	E>*		No	ClinGen Ensembl
rs767931423 CA2049353	741	G>D		No	ClinGen ExAC gnomAD
CA2049337 rs750938630	741	G>R		No	ClinGen ExAC gnomAD
CA2049336 rs750938630	741	G>S		No	ClinGen ExAC gnomAD
TCGA novel	742	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA350254765 rs1231124697	744	H>R		No	ClinGen TOPMed
TCGA novel CA350254824 rs1191129019	745	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen gnomAD
CA63821335 rs142230684	746	G>R		No	ClinGen 1000Genomes
rs773394492 CA2049354	746	G>V		No	ClinGen ExAC gnomAD
CA350254997 rs1428935186	749	E>D		No	ClinGen gnomAD
TCGA novel	750	H>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA350255034 rs1299224098	751	F>I		No	ClinGen TOPMed
CA350255057 rs1163911513	752	Y>C		No	ClinGen gnomAD
CA350255106 rs1459430108	753	M>I		No	ClinGen gnomAD
rs761273410 CA2049355	753	M>T		No	ClinGen ExAC gnomAD
TCGA novel	754	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs35217482 COSM149041 CA2049356	755	T>I	stomach [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA350255267 rs1574940047	758	M>K		No	ClinGen Ensembl
CA2049357 rs752300842	760	V>I		No	ClinGen ExAC gnomAD
rs372341427 CA2049359	761	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs141342059 CA2049360	762	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA63821360 rs143238645	762	P>T		No	ClinGen ESP
rs200881954 CA2049362	763	K>E		No	ClinGen 1000Genomes ExAC gnomAD
rs756119874 CA2049364 CA350255479	764	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC gnomAD NCI-TCGA
rs1291845443 CA350255564	766	D>E		No	ClinGen gnomAD
CA350255693 rs1213961190	769	M>I		No	ClinGen gnomAD
rs375296908 CA2049365	769	M>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1264892938 CA350255736	770	D>G		No	ClinGen TOPMed gnomAD
CA350255729 rs1559248197	770	D>H		No	ClinGen Ensembl
CA2049366 rs749428269	771	V>I		No	ClinGen ExAC gnomAD
CA63821377 rs927124468	772	Y>H		No	ClinGen TOPMed
rs145184679 CA2049368	773	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs145184679 CA2049367	773	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA350255881 rs1559248223	774	S>F		No	ClinGen Ensembl
CA63821394 rs1054044927	776	Q>*		No	ClinGen TOPMed gnomAD
rs748385302 CA2049370	777	F>L		No	ClinGen ExAC gnomAD
CA63821398 rs867093376	778	P>L		No	ClinGen Ensembl
CA350256003 rs1379720402	779	K>Q		No	ClinGen gnomAD
rs145900999 CA2049383	783	D>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA350256829 rs1386530555	784	I>V		No	ClinGen TOPMed
CA2049385 rs754854763	788	T>I		No	ClinGen ExAC gnomAD
rs772383712 CA2049388	789	L>V		No	ClinGen ExAC gnomAD
rs1181415539 CA350257187	796	V>I		No	ClinGen TOPMed gnomAD
rs747470738 CA2049390	797	M>I		No	ClinGen ExAC gnomAD
rs1280759129 CA350257222	797	M>L		No	ClinGen gnomAD
CA350257226 rs1350827375	797	M>T		No	ClinGen gnomAD
TCGA novel	799	H>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs369948718 CA2049393	800	V>A		No	ClinGen ESP ExAC gnomAD
CA2049395 rs774045453	801	R>K		No	ClinGen ExAC gnomAD
rs753018589 CA63822583	801	R>S		No	ClinGen Ensembl
rs41309768 CA2049396 VAR_047517	802	R>C	Variant assessed as Somatic; 0.0 impact. decreases homodimerization but nearly no effect on kinetic parameters [NCI-TCGA, UniProt]	No	ClinGen UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs113582006 CA2049397	802	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs113582006 CA2049398	802	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2049399 rs760310939	804	G>A		No	ClinGen ExAC gnomAD
rs373370000 CA350257486	806	A>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA2049400 rs766177453	806	A>T		No	ClinGen ExAC TOPMed gnomAD
rs373370000 CA2049401	806	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA350257525 rs1465032971	808	G>E		No	ClinGen gnomAD
rs1170410994 CA350257534	809	G>R		No	ClinGen gnomAD
rs765133560 CA2049403	811	V>G		No	ClinGen ExAC gnomAD
rs752878118 CA2049404	814	T>N		No	ClinGen ExAC gnomAD
rs1574941973 CA350257622	814	T>P		No	ClinGen Ensembl
CA2049407 rs144419430	815	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA350257732 rs1335795770	817	I>L		No	ClinGen gnomAD
rs1435137180 CA350257746	817	I>T		No	ClinGen gnomAD
CA2049408 rs777841231	818	A>E		No	ClinGen ExAC TOPMed gnomAD
rs1574942012 CA350257754	818	A>P		No	ClinGen Ensembl
CA350257781 rs1223790224	819	A>T		No	ClinGen TOPMed gnomAD
rs756261449 CA2049410	820	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA63822687 rs777974968	822	A>T		No	ClinGen TOPMed gnomAD
rs565315793 CA63822689	822	A>V		No	ClinGen Ensembl
rs1273628909 CA350257871	824	A>T		No	ClinGen gnomAD
CA2049413 rs746205075	825	A>S		No	ClinGen ExAC TOPMed gnomAD
CA2049412 rs746205075	825	A>T		No	ClinGen ExAC TOPMed gnomAD
CA2049414 rs201083953	826	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs747762591 CA2049415	827	K>T		No	ClinGen ExAC TOPMed gnomAD
CA2049428 rs373412310	828	H>R		No	ClinGen ESP ExAC gnomAD
rs746293039 CA2049429	829	G>S		No	ClinGen ExAC gnomAD
CA2049430 rs112028885	830	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	831	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2049431 rs780400714	832	V>F		No	ClinGen ExAC TOPMed gnomAD
CA63823565 rs780400714	832	V>I		No	ClinGen ExAC TOPMed gnomAD
CA2049432 rs749776412 COSM3425930	833	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA2049433 rs769159903	833	R>H		No	ClinGen ExAC TOPMed gnomAD
CA350258350 rs1242460234	834	C>Y		No	ClinGen gnomAD
TCGA novel	835	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs961341488 CA2049435	838	R>*	Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA2049437 rs746500211	838	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs377368396 CA2049439	841	D>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs377368396 CA350258409	841	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA350258442 rs1353107495	842	M>V		No	ClinGen gnomAD
rs1340186102 CA350258467	845	T>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1256401577 CA350258480	846	G>E		No	ClinGen TOPMed gnomAD
TCGA novel	846	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	846	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs775304628 CA2049442	848	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA350258500 rs775304628	848	R>G		No	ClinGen ExAC TOPMed gnomAD
COSM1245138 rs762829482 CA2049443	848	R>H	oesophagus [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs762829482 CA2049444	848	R>L		No	ClinGen ExAC TOPMed gnomAD
CA63823621 rs202238148	850	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs202238148 CA2049446	850	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1428990703 CA350258539	851	Y>*		No	ClinGen TOPMed
CA350258534 rs1157521295	851	Y>S		No	ClinGen gnomAD
CA350258549 rs1559249691	852	L>F		No	ClinGen Ensembl
CA350258564 rs1454999351	853	G>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1377988257 CA350258560	853	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA2049447 rs112951726	854	K>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2049448 rs750679575	856	K>E		No	ClinGen ExAC TOPMed gnomAD
rs766596324 CA2049467	859	F>V		No	ClinGen ExAC gnomAD
TCGA novel	860	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1195860847 CA350259380	860	M>K		No	ClinGen gnomAD
rs1195860847 CA350259381	860	M>T		No	ClinGen gnomAD
CA350259376 rs1244085246	860	M>V		No	ClinGen TOPMed
CA350259391 rs1266139474	861	N>D		No	ClinGen gnomAD
CA63825050 rs113275102	861	N>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2049469 COSM1183095 rs778227422	862	D>N	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1429681235 CA350259425	863	G>D		No	ClinGen gnomAD
rs983282157 CA63825063	864	R>S		No	ClinGen Ensembl
rs779078162 CA350259460	866	L>S		No	ClinGen ExAC gnomAD
CA2049470 rs779078162	866	L>W		No	ClinGen ExAC gnomAD
TCGA novel	867	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2049471 rs753212226	868	L>M		No	ClinGen ExAC gnomAD
rs1292980564 CA350259505	870	M>T		No	ClinGen TOPMed gnomAD
COSM3798490 CA2049472 rs758852789	871	E>Q	urinary_tract [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA350259531 rs1304017099	872	H>R		No	ClinGen gnomAD
CA350259541 rs1340220537	873	Y>H		No	ClinGen gnomAD
CA63825071 rs1041305387	874	S>N		No	ClinGen TOPMed gnomAD
CA2049473 rs368167502	876	A>T		No	ClinGen ESP ExAC gnomAD
rs745350737 CA2049474	876	A>V		No	ClinGen ExAC gnomAD
CA2049476 rs75996313	878	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs75996313 CA2049477	878	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1224169281 CA350259631	879	S>F		No	ClinGen TOPMed gnomAD
CA350259639 rs1388362840	880	L>*		No	ClinGen gnomAD
CA350259641 rs1400054890	880	L>F		No	ClinGen TOPMed
rs1453905375 CA350259649	881	D>G		No	ClinGen TOPMed
CA350259645 rs1160223180	881	D>Y		No	ClinGen TOPMed
rs1269170989 CA350259661	882	E>*		No	ClinGen gnomAD
rs1184556208 CA350259704	885	F>C		No	ClinGen TOPMed gnomAD
CA2049498 rs759591863	886	V>M		No	ClinGen ExAC gnomAD
rs754540446 CA2049499	887	I>M		No	ClinGen ExAC gnomAD
rs1559251820 CA350260794	887	I>T		No	ClinGen Ensembl
TCGA novel	888	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA350260838 rs1208297451	889	M>I		No	ClinGen TOPMed
rs867269824 CA63825909	893	K>N		No	ClinGen Ensembl
rs1399154024 CA350260975	894	M>T		No	ClinGen gnomAD
CA63825911 rs1054560327	895	D>H		No	ClinGen Ensembl
CA350261020 rs1161585493	896	N>K		No	ClinGen gnomAD
CA2049502 rs778885103	897	A>V		No	ClinGen ExAC gnomAD
rs141585936 CA63825931	898	Y>F		No	ClinGen ESP gnomAD
rs747923718 CA2049503	902	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1454020088 CA350261178	903	L>H		No	ClinGen gnomAD
rs369320698 CA2049506	904	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs776522269 CA2049508	904	R>H		No	ClinGen ExAC TOPMed gnomAD
rs776522269 CA350261199	904	R>L		No	ClinGen ExAC TOPMed gnomAD
CA2049507 rs369320698	904	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1358663037 CA350261238	905	C>S		No	ClinGen TOPMed
CA350261262 rs374847145	906	R>G		No	ClinGen ExAC TOPMed gnomAD
CA2049511 rs139407288	906	R>Q	Variant assessed as Somatic; 4.621e-05 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA2049510 rs374847145	906	R>W		No	ClinGen ExAC TOPMed gnomAD
rs764652380 CA2049513	907	G>D		No	ClinGen ExAC gnomAD
CA350261292 rs764652380	907	G>V		No	ClinGen ExAC gnomAD
CA350261330 rs1366304226	909	A>E		No	ClinGen gnomAD
rs1468697466 CA350261340	910	C>G		No	ClinGen TOPMed gnomAD
rs1468697466 CA350261339	910	C>R		No	ClinGen TOPMed gnomAD
CA63826013 rs201245462	910	C>Y		No	ClinGen TOPMed
CA2049515 rs757648677	913	N>S		No	ClinGen ExAC TOPMed gnomAD
rs765938790 CA2049516	914	L>F		No	ClinGen ExAC gnomAD
CA2049517 rs753249922	914	L>R		No	ClinGen ExAC TOPMed gnomAD
rs754703131 CA2049518	915	P>Q		No	ClinGen ExAC gnomAD
rs1574946847 CA350261462	917	N>D		No	ClinGen Ensembl
rs1470559474 CA350261493	919	A>D		No	ClinGen gnomAD
CA350261496 rs1470559474	919	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1331295104 CA350261501	920	F>L		No	ClinGen gnomAD
rs866567689 CA63826050	921	R>C		No	ClinGen TOPMed
VAR_070256 rs56199635 COSM1136557 CA2049520	921	R>H	kidney Variant assessed as Somatic; 0.0 impact. increases homodimerization; abolishes enzymatic activity on phenanthridine; decreases turnover number with benzaldehyde, phtalazine and chloroquinazolinone as substrate, while nearly no effect on the KM [Cosmic, NCI-TCGA, UniProt]	No	ClinGen cosmic curated UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs56199635 CA63826056	921	R>L		No	ClinGen ExAC TOPMed gnomAD
rs56199635 CA2049519	921	R>P		No	ClinGen ExAC TOPMed gnomAD
rs144275574 CA2049521	924	G>A		No	ClinGen ESP ExAC gnomAD
CA2049522 rs777649675	925	F>L		No	ClinGen ExAC gnomAD
CA350261581 rs1222570956	926	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA63826062 rs920383087	928	A>V		No	ClinGen Ensembl
rs746986816 CA2049523	929	A>V		No	ClinGen ExAC gnomAD
rs1272209964 CA350261622	930	L>Q		No	ClinGen gnomAD
CA2049526 rs745912681	932	T>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA2049528 rs142604856	933	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs769022441 CA2049531	935	C>W		No	ClinGen ExAC gnomAD
COSM209508 CA2049533 rs373608049	937	T>M	Variant assessed as Somatic; 4.623e-05 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA2049532 rs373608049	937	T>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA63826101 rs1041668035	938	E>K		No	ClinGen TOPMed gnomAD
CA350261735 rs1041668035	938	E>Q		No	ClinGen TOPMed gnomAD
CA63826123 rs199763618	939	V>A		No	ClinGen Ensembl
rs767882692 CA2049534	943	C>W		No	ClinGen ExAC gnomAD
TCGA novel	944	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs753440361 CA2049535	944	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1300941188 CA350261844	945	L>P		No	ClinGen gnomAD
rs560519395 CA63826165	945	L>V		No	ClinGen Ensembl
CA2049536 rs759107827	946	S>P		No	ClinGen ExAC TOPMed gnomAD
CA350261877 rs1559252057	947	P>R		No	ClinGen Ensembl
rs752407149 CA2049538	947	P>S		No	ClinGen ExAC gnomAD
CA2049560 rs763630671	950	V>L		No	ClinGen ExAC gnomAD
rs140878478 COSM3425931 CA2049561	951	R>*	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
COSM1014738 CA2049562 rs142541240	951	R>Q	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA350264512 rs1443395847	952	I>M		No	ClinGen gnomAD
CA350264507 rs1243087983	952	I>T		No	ClinGen gnomAD
CA350264541 rs1182829691	954	N>S		No	ClinGen TOPMed
rs1181179532 CA350264563	955	M>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs780973244 CA2049563	956	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs1424847729 CA350264590	957	K>E		No	ClinGen gnomAD
rs755998329 CA2049565	957	K>N		No	ClinGen ExAC
rs750341309 CA2049564	957	K>R		No	ClinGen ExAC TOPMed gnomAD
CA350264609 rs1488870052	958	E>G		No	ClinGen TOPMed
rs989025504 CA63829884	958	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA2049566 rs780140677	959	I>T		No	ClinGen ExAC gnomAD
rs144873627 CA350264652	960	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs913076376 CA63829889	960	D>G		No	ClinGen TOPMed
rs1313761073 CA350264686	962	T>I		No	ClinGen TOPMed
rs759307760 CA2049569	963	P>R		No	ClinGen ExAC gnomAD
rs1354659192 CA350264694	963	P>T		No	ClinGen TOPMed
CA350264712 rs1317229615	964	Y>C		No	ClinGen TOPMed gnomAD
CA2049570 rs138174107	966	Q>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA350264749 rs138174107	966	Q>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2049572 rs138174107	966	Q>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2049573 rs772332559	966	Q>P		No	ClinGen ExAC gnomAD
CA2049574 rs138780561	969	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA350264852 rs1353218206	971	K>E		No	ClinGen gnomAD
rs1297077658 CA350264875	972	N>S		No	ClinGen TOPMed
CA350264906 rs1262952201	974	I>T		No	ClinGen TOPMed gnomAD
rs1206077534 CA350264900	974	I>V		No	ClinGen gnomAD
CA2049576 rs771530428	975	Q>K		No	ClinGen ExAC gnomAD
rs1206145536 CA350264937	976	C>Y		No	ClinGen gnomAD
CA350264949 rs1423890728	977	W>*		No	ClinGen gnomAD
rs1165008496 CA350265028	981	M>T		No	ClinGen gnomAD
CA350265017 rs1351094944	981	M>V		No	ClinGen TOPMed
CA350265101 rs1363049970	985	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA350265110 rs1180572563	986	Y>*		No	ClinGen gnomAD
rs763873321 CA2049579	988	L>S		No	ClinGen ExAC TOPMed gnomAD
rs763873321 CA2049580	988	L>W		No	ClinGen ExAC TOPMed gnomAD
CA63829935 rs867154844	989	R>K		No	ClinGen gnomAD
CA350265139 rs867154844	989	R>M		No	ClinGen gnomAD
rs200443310 CA2049582	992	A>S		No	ClinGen 1000Genomes ExAC gnomAD
rs756087291 CA2049584	994	E>K		No	ClinGen ExAC gnomAD
CA2049585 rs766283929	995	K>R		No	ClinGen ExAC gnomAD
rs1406834712 CA350265304	997	N>S		No	ClinGen gnomAD
CA2049587 rs192036221	998	A>E		No	ClinGen 1000Genomes ExAC gnomAD
rs566683850 CA2049588	999	E>*		No	ClinGen 1000Genomes ExAC gnomAD
rs566683850 CA2049589	999	E>K		No	ClinGen 1000Genomes ExAC gnomAD
CA63829955 rs1049761898	1001	Y>C		No	ClinGen TOPMed
CA2049594 rs776783393	1008	A>T		No	ClinGen ExAC TOPMed gnomAD
CA350265558 rs1194731220	1009	M>V		No	ClinGen TOPMed gnomAD
rs1428296585 CA350265726	1015	P>S		No	ClinGen gnomAD
CA350265826 rs1479336735	1019	G>V		No	ClinGen gnomAD
rs1398059144 CA350265828	1020	S>T		No	ClinGen TOPMed gnomAD
CA2049597 rs774101325	1021	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA63829969 rs896880623	1021	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs558097510 CA2049598	1024	G>A		No	ClinGen 1000Genomes ExAC gnomAD
rs747856851 CA2049615	1026	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1290489755 CA350267681	1027	A>S		No	ClinGen gnomAD
CA2049616 rs544496025	1028	A>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs772711058 CA2049617	1028	A>V		No	ClinGen ExAC TOPMed gnomAD
CA2049619 rs770837985	1029	L>F		No	ClinGen ExAC gnomAD
rs776595214 CA2049620	1031	H>L		No	ClinGen ExAC TOPMed gnomAD
rs1450077692 CA350267711	1032	I>N		No	ClinGen gnomAD
CA350267709 rs1574957149	1032	I>V		No	ClinGen Ensembl
CA2049622 rs765106050	1033	Y>C		No	ClinGen ExAC gnomAD
CA350267741 rs1574957160	1036	G>V		No	ClinGen Ensembl
CA350267779 rs1426735781	1040	V>F		No	ClinGen gnomAD
rs530086359 CA2049626	1042	H>P		No	ClinGen 1000Genomes ExAC gnomAD
rs530086359 CA2049627	1042	H>R		No	ClinGen 1000Genomes ExAC gnomAD
CA2049625 rs764479130	1042	H>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA2049629 rs750970635	1043	G>S		No	ClinGen ExAC TOPMed gnomAD
rs968345922 CA63831317	1044	G>R		No	ClinGen TOPMed gnomAD
CA350267844 rs1399472315	1045	I>T		No	ClinGen TOPMed
rs780478470 CA350267866	1047	M>L		No	ClinGen ExAC TOPMed gnomAD
rs1313005853 CA350267871	1047	M>R		No	ClinGen gnomAD
rs780478470 CA2049631	1047	M>V		No	ClinGen ExAC TOPMed gnomAD
CA350267888 rs1362932173	1048	G>V		No	ClinGen TOPMed
CA350267907 rs1213379338	1050	G>R		No	ClinGen gnomAD
CA350267926 rs1262310605	1051	V>A		No	ClinGen gnomAD
rs1183552089 CA350267931	1052	H>Y		No	ClinGen TOPMed
CA2049632 rs747686137	1053	T>I		No	ClinGen ExAC gnomAD
rs1574957266 CA350267952	1054	K>E		No	ClinGen Ensembl
rs373988743 CA2049633	1054	K>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs149138495 CA2049634	1055	M>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2049635 rs746496301	1056	I>T		No	ClinGen ExAC TOPMed gnomAD
rs770463781 CA2049636	1057	Q>L		No	ClinGen ExAC gnomAD
CA2049648 rs767726036	1058	V>M		No	ClinGen ExAC gnomAD
rs750836209 CA2049649	1059	V>A		No	ClinGen ExAC TOPMed gnomAD
CA350268984 rs1300408198	1060	S>I		No	ClinGen TOPMed
CA2049650 rs759347833	1060	S>R		No	ClinGen ExAC TOPMed gnomAD
rs766860082 COSM3938864 CA350268992	1061	R>C	oesophagus [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA2049652 rs754213226 COSM2153605	1061	R>H	Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA2049651 rs766860082	1061	R>S		No	ClinGen ExAC TOPMed gnomAD
CA2049653 rs755381006	1063	L>V		No	ClinGen ExAC
CA350269064 rs1427123886	1064	R>G		No	ClinGen gnomAD
rs1559259318 CA350269091	1065	M>K		No	ClinGen Ensembl
rs777368529 CA350269105	1066	P>A		No	ClinGen ExAC gnomAD
rs777368529 CA2049654 COSM212279	1066	P>S	breast [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA63831928 rs1028945320	1067	M>I		No	ClinGen TOPMed gnomAD
rs1422988532 CA350269132	1067	M>K		No	ClinGen TOPMed gnomAD
rs756701663 CA2049656	1067	M>V		No	ClinGen ExAC TOPMed gnomAD
rs780760529 CA2049657	1068	S>L		No	ClinGen ExAC TOPMed gnomAD
CA350269180 rs1309482334	1069	N>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs913895260 CA63831937	1070	V>I		No	ClinGen TOPMed gnomAD
rs775339736 CA2049660	1073	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA2049661 rs142689320	1073	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs768602919 CA2049662	1074	G>E		No	ClinGen ExAC
CA2049663 rs774665431	1075	T>R		No	ClinGen ExAC gnomAD
rs1232343050 CA350269309	1080	V>I		No	ClinGen TOPMed
rs139092129 RCV000956027 CA2049667	1083	A>G		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs773335513 CA2049666	1083	A>T		No	ClinGen ExAC gnomAD
rs1019634379 CA63831953	1088	G>D		No	ClinGen TOPMed gnomAD
CA350269414 rs1019634379	1088	G>V		No	ClinGen TOPMed gnomAD
CA2049669 rs531382479	1089	S>P		No	ClinGen 1000Genomes ExAC gnomAD
rs755291285 CA2049670	1090	V>G		No	ClinGen ExAC TOPMed gnomAD
rs1383125063 CA350269427	1090	V>M		No	ClinGen TOPMed
CA350269444 rs1418084465	1091	V>A		No	ClinGen TOPMed gnomAD
CA350269447 rs1407730268	1092	A>T		No	ClinGen gnomAD
CA350269455 rs1170005246	1092	A>V		No	ClinGen gnomAD
TCGA novel	1094	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA350269523 rs139975106	1096	G>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA350269524 rs1301044895	1096	G>D		No	ClinGen gnomAD
CA2049673 rs139975106	1096	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2049674 rs780768107	1097	L>V		No	ClinGen ExAC gnomAD
CA350269538 rs1437063087	1098	A>V		No	ClinGen TOPMed gnomAD
CA63831968 rs972819117	1099	V>A		No	ClinGen TOPMed
rs1269531185 CA350269540	1099	V>L		No	ClinGen gnomAD
rs143455909 CA2049688	1101	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA2049689 rs540086318	1102	A>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	1102	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1302856969 CA350269584	1104	Q>E		No	ClinGen TOPMed
rs763359009 CA2049691	1104	Q>H		No	ClinGen ExAC gnomAD
CA2049692 rs767168233	1106	L>I		No	ClinGen ExAC TOPMed gnomAD
CA350269604 rs1282646101	1107	L>P		No	ClinGen gnomAD
CA2049693 rs750075479 COSM1669651	1109	R>C	liver central_nervous_system [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs376172931 CA2049695	1109	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs376172931 CA2049694	1109	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1248392107 CA350269619	1110	L>F		No	ClinGen TOPMed gnomAD
rs141255847 COSM1014741 CA2049697	1111	E>K	endometrium [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA63832348 rs1030401548	1114	I>M		No	ClinGen Ensembl
TCGA novel	1115	S>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2049698 rs779048606	1116	K>R		No	ClinGen ExAC TOPMed
rs747932228 CA2049699	1118	P>L		No	ClinGen ExAC gnomAD
CA2049700 rs771799084	1121	T>N		No	ClinGen ExAC gnomAD
TCGA novel	1122	W>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs778007957 CA2049701	1124	D>H		No	ClinGen ExAC gnomAD
CA2049713 rs766121308	1126	A>P		No	ClinGen ExAC TOPMed gnomAD
CA63832821 rs766121308	1126	A>T		No	ClinGen ExAC TOPMed gnomAD
CA350269754 rs1403035044	1127	Q>R		No	ClinGen gnomAD
CA63832827 rs200508058	1128	T>S		No	ClinGen Ensembl
rs1574961515 CA350269761	1128	T>S		No	ClinGen Ensembl
CA350269764 rs753381838	1129	A>S		No	ClinGen ExAC TOPMed gnomAD
CA2049714 rs753381838	1129	A>T		No	ClinGen ExAC TOPMed gnomAD
CA350269781 rs1327111171	1131	D>E		No	ClinGen gnomAD
CA63832834 rs753899012	1131	D>N		No	ClinGen Ensembl
rs754581986 CA2049715	1133	S>N		No	ClinGen ExAC gnomAD
CA2049716 rs778958851	1134	I>T		No	ClinGen ExAC gnomAD
VAR_070257 rs55754655 CA2049717	1135	N>S	increases homodimerization and turnover number with phenanthridine as substrate; nearly no effect on kinetic parameters with benzaldehyde, phtalazine and chloroquinazolinone as substrate [UniProt]	No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA2049718 rs758158020	1136	L>I		No	ClinGen ExAC gnomAD
rs1236093398 CA350269815	1136	L>R		No	ClinGen gnomAD
rs1574961548 CA350269822	1138	A>T		No	ClinGen Ensembl
CA350269832 rs1162008034	1139	V>A		No	ClinGen TOPMed
CA350269842 rs1345114559	1141	Y>H		No	ClinGen TOPMed gnomAD
CA63832853 rs987624164	1142	F>L		No	ClinGen Ensembl
rs201601639 CA2049720 CA350269853	1142	F>L		No	ClinGen ExAC TOPMed gnomAD
rs1433589732 CA350270355	1144	G>D		No	ClinGen TOPMed gnomAD
CA2049751 rs765053435	1144	G>S		No	ClinGen ExAC TOPMed gnomAD
CA350270405 rs1277031902	1146	E>*		No	ClinGen TOPMed
rs111414093 CA63833162	1146	E>G		No	ClinGen Ensembl
CA350270399 rs1277031902	1146	E>K		No	ClinGen TOPMed
rs774851026 CA2049752	1147	S>A		No	ClinGen ExAC TOPMed gnomAD
rs1366782121 CA350270472	1149	M>V		No	ClinGen gnomAD
rs76564086 CA63833167	1151	W>*		No	ClinGen ExAC gnomAD
rs76564086 CA2049753	1151	W>C		No	ClinGen ExAC gnomAD
CA350270514 rs1412165662	1151	W>R		No	ClinGen TOPMed
CA350270555 rs1313945435	1153	K>I		No	ClinGen TOPMed gnomAD
rs751547917 CA2049755	1154	G>D		No	ClinGen ExAC gnomAD
rs200842175 CA2049756	1155	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA350270625 rs1174150796	1156	G>V		No	ClinGen TOPMed
rs146913502 CA2049758	1157	Q>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2049757 rs146913502	1157	Q>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1428285046 CA350270672	1159	F>L		No	ClinGen TOPMed
CA2049760 rs142723794	1160	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA350270729 rs1233018324	1161	Y>D		No	ClinGen TOPMed
rs1233018324 CA350270727	1161	Y>H		No	ClinGen TOPMed
rs1435765330 CA350270776	1163	V>I		No	ClinGen TOPMed
rs148902105 CA2049762	1164	Y>C		No	ClinGen 1000Genomes ExAC gnomAD
rs148902105 CA350270827	1164	Y>F		No	ClinGen 1000Genomes ExAC gnomAD
COSM69677 rs1456075706 CA350270862	1166	A>T	ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs1011605858 CA63833179	1166	A>V		No	ClinGen Ensembl
rs35345784 CA2049764	1167	A>V		No	ClinGen ExAC TOPMed gnomAD
rs772503743 CA2049765	1168	C>R		No	ClinGen ExAC gnomAD
rs1435174026 CA350270906	1168	C>S		No	ClinGen gnomAD
rs143571444 CA63833185	1169	S>F		No	ClinGen 1000Genomes ExAC gnomAD
CA2049766 rs143571444	1169	S>Y		No	ClinGen 1000Genomes ExAC gnomAD
CA2049768 rs769549935	1170	E>K		No	ClinGen ExAC gnomAD
rs911733529 CA63833191	1174	D>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA63833192 rs981791871	1177	T>M		No	ClinGen TOPMed gnomAD
CA2049771 rs768237820	1178	G>E		No	ClinGen ExAC gnomAD
CA2049770 rs779495901	1178	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1574962634 CA350271146	1179	D>V		No	ClinGen Ensembl
rs935077646 CA63833197	1179	D>Y		No	ClinGen TOPMed
rs1559261369 CA350271174	1180	H>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA2049794 rs761369108	1183	I>V		No	ClinGen ExAC gnomAD
rs1415668644 CA350390797	1184	R>K		No	ClinGen gnomAD
TCGA novel	1186	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1188	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2049797 rs760418685	1189	M>V		No	ClinGen ExAC gnomAD
CA350390841 rs1309569626	1190	D>G		No	ClinGen gnomAD
rs1350918475 CA350390845	1191	V>I		No	ClinGen gnomAD
rs1273023434 CA350390867	1194	S>G		No	ClinGen gnomAD
CA2049800 rs369814413	1194	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs1205289695 CA350390875	1195	I>K		No	ClinGen TOPMed
CA350390873 rs1219886702	1195	I>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA350390905 rs1350499083	1199	I>M		No	ClinGen TOPMed
CA350390910 rs1275710774	1200	D>G		No	ClinGen gnomAD
rs1207592904 CA350390907	1200	D>H		No	ClinGen TOPMed gnomAD
CA350390906 rs1207592904	1200	D>N		No	ClinGen TOPMed gnomAD
rs1490291589 CA350390918	1201	I>T		No	ClinGen gnomAD
CA350390922 rs1322818642	1202	G>R		No	ClinGen TOPMed
rs1248957982 CA350390933	1203	Q>H		No	ClinGen gnomAD
TCGA novel	1203	Q>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs752805571 CA350390930	1203	Q>P		No	ClinGen ExAC gnomAD
rs752805571 CA2049802	1203	Q>R		No	ClinGen ExAC gnomAD
rs778497143 CA2049828	1204	I>T		No	ClinGen ExAC TOPMed gnomAD
CA350391011 rs1386430493	1205	E>D		No	ClinGen gnomAD
CA350391023 rs747816576	1207	A>G		No	ClinGen ExAC TOPMed gnomAD
rs1437359249 CA350391019	1207	A>T		No	ClinGen gnomAD
CA2049829 rs747816576	1207	A>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1208	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA64464040 rs377494439	1208	F>S		No	ClinGen ESP
rs1387760790 CA350391031	1209	I>L		No	ClinGen TOPMed
rs867842328 CA64464042	1210	Q>P		No	ClinGen Ensembl
CA350391046 rs1156342731	1211	G>R		No	ClinGen TOPMed
CA350391049 rs1446118096	1211	G>V		No	ClinGen gnomAD
CA2049831 rs777266449	1212	M>T		No	ClinGen ExAC gnomAD
rs368816835 CA350391063	1213	G>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA2049832 rs368816835	1213	G>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA350391066 rs1400902601	1214	L>F		No	ClinGen TOPMed gnomAD
rs150568828 CA2049833	1215	Y>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2049834 rs776475889	1217	I>T		No	ClinGen ExAC gnomAD
rs745639673 CA2049835	1218	E>Q		No	ClinGen ExAC gnomAD
rs775798174 CA2049838	1220	L>R		No	ClinGen ExAC gnomAD
rs1559263889 CA350391109	1221	N>H		No	ClinGen Ensembl
TCGA novel	1223	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2049841 rs774561111	1225	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA2049842 rs761846442	1226	G>D		No	ClinGen ExAC TOPMed gnomAD
rs768035591 CA2049843	1228	L>R		No	ClinGen ExAC gnomAD
COSM1014743 rs143363067 CA350391172	1230	T>I	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP NCI-TCGA TOPMed
rs143363067 CA64464056	1230	T>S		No	ClinGen ESP TOPMed
CA2049844 rs989392730	1231	R>C		No	ClinGen TOPMed gnomAD
CA2049846 COSM2155850 rs373230627	1231	R>H	Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs373230627 CA2049847	1231	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA350391179 COSM1136558 rs1242870736	1232	G>V	kidney Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs895048565 CA64464062	1233	P>L		No	ClinGen TOPMed
CA350391201 rs931637805	1235	Q>H		No	ClinGen gnomAD
rs986208209 CA64464066	1236	Y>C		No	ClinGen gnomAD
rs1338522100 CA350391212	1237	K>*		No	ClinGen TOPMed
rs1338522100 CA350391211 COSM1183091	1237	K>E	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed
CA2049848 rs766738403	1237	K>N		No	ClinGen ExAC gnomAD
rs752277791 CA2049849	1238	I>T		No	ClinGen ExAC gnomAD
rs1286892570 CA350391224	1239	P>A		No	ClinGen gnomAD
CA2049850 rs534359393	1240	A>T		No	ClinGen 1000Genomes ExAC gnomAD
CA350391245 rs1574967242	1242	C>S		No	ClinGen Ensembl
CA350391251 rs1260728175	1243	D>N		No	ClinGen gnomAD
CA64464075 rs371447979	1244	M>I		No	ClinGen ESP
rs145678485 CA64464072	1244	M>T		No	ClinGen ESP TOPMed gnomAD
rs374349831 CA2049852	1245	P>L		No	ClinGen ESP ExAC gnomAD
CA64464077 rs369834204	1245	P>S		No	ClinGen ESP
rs1022964445 CA64464081	1246	T>A		No	ClinGen TOPMed gnomAD
rs142565909 CA2049854	1246	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs930830177 CA64464085	1247	E>G		No	ClinGen Ensembl
CA350391298 rs1249376794	1250	I>T		No	ClinGen TOPMed gnomAD
CA350391311 rs1162335317	1252	L>W		No	ClinGen TOPMed
rs1473509150 CA350391319	1253	L>F		No	ClinGen gnomAD
CA350391328 rs1182445940	1255	P>A		No	ClinGen gnomAD
CA2049857 rs779992540	1257	Q>*		No	ClinGen ExAC gnomAD
CA2049858 rs749155461	1260	N>I		No	ClinGen ExAC gnomAD
CA2049859 rs768976740	1261	T>N		No	ClinGen ExAC gnomAD
rs774474413 CA2049860	1262	L>H		No	ClinGen ExAC gnomAD
CA64464090 rs1031719399	1264	S>L		No	ClinGen TOPMed
CA350391392 rs1410912791	1265	S>P		No	ClinGen gnomAD
rs1461977465 CA350391401	1266	K>M		No	ClinGen gnomAD
CA64464290 COSM109462 rs143420132	1269	G>R	skin [Cosmic]	No	ClinGen cosmic curated TOPMed
rs1270120672 CA350391433	1270	E>K		No	ClinGen TOPMed
CA350391431 rs1270120672	1270	E>Q		No	ClinGen TOPMed
VAR_070258 CA2049881 rs141786030	1271	S>L	no effect on dimerization; no effect on oxidase activity [UniProt]	No	ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD
CA350391447 rs1211602165	1272	G>A		No	ClinGen TOPMed gnomAD
rs1211602165 CA350391446	1272	G>E		No	ClinGen TOPMed gnomAD
CA2049882 rs748330656	1272	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1211602165 CA350391448	1272	G>V		No	ClinGen TOPMed gnomAD
CA350391452 rs772120366	1273	V>A		No	ClinGen ExAC gnomAD
CA2049883 rs772120366	1273	V>G		No	ClinGen ExAC gnomAD
rs866719910 CA350391450	1273	V>L		No	ClinGen TOPMed
CA64464294 rs866719910	1273	V>M		No	ClinGen TOPMed
CA350391455 rs1574968024	1274	F>V		No	ClinGen Ensembl
CA2049884 rs773158746	1275	L>P		No	ClinGen ExAC gnomAD
rs773158746 CA350391463	1275	L>Q		No	ClinGen ExAC gnomAD
CA350391472 rs1574968035	1277	C>G		No	ClinGen Ensembl
rs267599151 CA64464299	1278	S>F		No	ClinGen Ensembl
CA2049885 rs369949639	1278	S>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2049887 rs777157791	1279	V>M		No	ClinGen ExAC gnomAD
rs139412477 CA2049888	1281	F>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	1281	F>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA350391503 rs1166302592	1282	A>T		No	ClinGen gnomAD
rs1433708120 CA350391515	1283	I>M		No	ClinGen gnomAD
CA350391511 rs1388622972	1283	I>V		No	ClinGen gnomAD
CA350391518 rs1559264452	1284	H>R		No	ClinGen Ensembl
rs751157322 CA2049890	1284	H>Y		No	ClinGen ExAC gnomAD
TCGA novel	1286	A>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs371463224 CA2049891	1286	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA2049892 rs373687373	1291	R>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA350391564 rs150828500	1291	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA2049893 rs150828500	1291	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA350391563 rs150828500	1291	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA2049895 rs766378711	1295	G>S		No	ClinGen ExAC gnomAD
rs754761962 CA2049897	1296	L>P		No	ClinGen ExAC gnomAD
CA64464312 rs866714522	1297	H>N		No	ClinGen Ensembl
VAR_047518 rs3731722 CA2049898	1297	H>R	increases homodimerization and turnover number with phenanthridine as substrate; nearly no effect on kinetic parameters with benzaldehyde, phtalazine and chloroquinazolinone as substrate [UniProt]	No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA350391607 rs1486293054	1298	G>A		No	ClinGen TOPMed gnomAD
CA350391606 rs1486293054	1298	G>E		No	ClinGen TOPMed gnomAD
rs913195862 CA64464314	1299	P>S		No	ClinGen TOPMed gnomAD
rs758532219 CA2049900	1301	T>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs747053934 CA2049902	1306	L>R		No	ClinGen ExAC gnomAD
CA2049903 rs771024005	1307	T>I		No	ClinGen ExAC gnomAD
rs771024005 CA350391662	1307	T>S		No	ClinGen ExAC gnomAD
rs777068170 CA2049904	1308	P>L		No	ClinGen ExAC TOPMed gnomAD
rs777068170 CA64464324	1308	P>R		No	ClinGen ExAC TOPMed gnomAD
CA350391679 rs1346489469	1310	K>R		No	ClinGen gnomAD
rs981612104 CA64464327	1312	R>K		No	ClinGen Ensembl
TCGA novel	1312	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs770399445 CA2049907	1314	A>T		No	ClinGen ExAC TOPMed gnomAD
CA2049909 rs763425049	1315	C>Y		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1321	K>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2049929 rs375761698	1324	P>L		No	ClinGen ESP ExAC gnomAD
CA2049930 rs375761698	1324	P>R		No	ClinGen ESP ExAC gnomAD
CA350391796 rs1483576934	1325	R>T		No	ClinGen TOPMed
rs766197156 CA2049932	1326	D>H		No	ClinGen ExAC gnomAD
CA2049933 rs776264720	1328	P>H		No	ClinGen ExAC gnomAD
CA350391820 CA64464537 rs1047557474	1329	G>R		No	ClinGen gnomAD
rs866433719 CA64464539	1330	S>Y		No	ClinGen Ensembl
rs887645557 CA350391833	1331	Y>C		No	ClinGen TOPMed
rs1330723281 CA350391830	1331	Y>N		No	ClinGen gnomAD
rs887645557 CA64464541	1331	Y>S		No	ClinGen TOPMed
CA350391838 rs201250814	1332	V>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2049934 rs201250814	1332	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs765052288 CA2049935	1336	V>A		No	ClinGen ExAC TOPMed gnomAD
rs765052288 CA350391869	1336	V>G		No	ClinGen ExAC TOPMed gnomAD
CA350391865 rs1279464507	1336	V>I		No	ClinGen TOPMed
CA2049937 rs762600309	1337	P>S		No	ClinGen ExAC gnomAD
TCGA novel	1338	I>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA

No associated diseases with Q06278

3 regional properties for Q06278

Type	Name	Position	InterPro Accession
domain	Oxoglutarate/iron-dependent dioxygenase	165 - 270	IPR005123
domain	Non-haem dioxygenase N-terminal domain	14 - 91	IPR026992
domain	Isopenicillin N synthase-like, Fe(2+) 2OG dioxygenase domain	173 - 267	IPR044861

Functions

		Description
EC Number	1.2.3.1	With oxygen as acceptor
Subcellular Localization	Cytoplasm
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

2 GO annotations of cellular component

Name	Definition
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
extracellular exosome	A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm.

10 GO annotations of molecular function

Name	Definition
2 iron, 2 sulfur cluster binding	Binding to a 2 iron, 2 sulfur (2Fe-2S) cluster; this cluster consists of two iron atoms, with two inorganic sulfur atoms found between the irons and acting as bridging ligands.
aldehyde oxidase activity	Catalysis of the reaction: an aldehyde + H2O + O2 = a carboxylic acid + hydrogen peroxide.
FAD binding	Binding to the oxidized form, FAD, of flavin-adenine dinucleotide, the coenzyme or the prosthetic group of various flavoprotein oxidoreductase enzymes.
flavin adenine dinucleotide binding	Binding to FAD, flavin-adenine dinucleotide, the coenzyme or the prosthetic group of various flavoprotein oxidoreductase enzymes, in either the oxidized form, FAD, or the reduced form, FADH2.
identical protein binding	Binding to an identical protein or proteins.
iron ion binding	Binding to an iron (Fe) ion.
molybdopterin cofactor binding	Binding to a molybdopterin cofactor (Moco), essential for the catalytic activity of some enzymes, e.g. sulfite oxidase, xanthine dehydrogenase, and aldehyde oxidase. The cofactor consists of a mononuclear molybdenum (Mo-molybdopterin) or tungsten ion (W-molybdopterin) coordinated by one or two molybdopterin ligands.
NAD binding	Binding to nicotinamide adenine dinucleotide, a coenzyme involved in many redox and biosynthetic reactions; binding may be to either the oxidized form, NAD+, or the reduced form, NADH.
oxidoreductase activity	Catalysis of an oxidation-reduction (redox) reaction, a reversible chemical reaction in which the oxidation state of an atom or atoms within a molecule is altered. One substrate acts as a hydrogen or electron donor and becomes oxidized, while the other acts as hydrogen or electron acceptor and becomes reduced.
protein homodimerization activity	Binding to an identical protein to form a homodimer.

2 GO annotations of biological process

Name	Definition
lipid metabolic process	The chemical reactions and pathways involving lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent. Includes fatty acids; neutral fats, other fatty-acid esters, and soaps; long-chain (fatty) alcohols and waxes; sphingoids and other long-chain bases; glycolipids, phospholipids and sphingolipids; and carotenes, polyprenols, sterols, terpenes and other isoprenoids.
xenobiotic metabolic process	The chemical reactions and pathways involving a xenobiotic compound, a compound foreign to the organim exposed to it. It may be synthesized by another organism (like ampicilin) or it can be a synthetic chemical.

No homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
No homologous proteins

10	20	30	40	50	60
MDRASELLFY	VNGRKVIEKN	VDPETMLLPY	LRKKLRLTGT	KYGCGGGGCG	ACTVMISRYN
70	80	90	100	110	120
PITKRIRHHP	ANACLIPICS	LYGAAVTTVE	GIGSTHTRIH	PVQERIAKCH	GTQCGFCTPG
130	140	150	160	170	180
MVMSIYTLLR	NHPEPTLDQL	TDALGGNLCR	CTGYRPIIDA	CKTFCKTSGC	CQSKENGVCC
190	200	210	220	230	240
LDQGINGLPE	FEEGSKTSPK	LFAEEEFLPL	DPTQELIFPP	ELMIMAEKQS	QRTRVFGSER
250	260	270	280	290	300
MMWFSPVTLK	ELLEFKFKYP	QAPVIMGNTS	VGPEVKFKGV	FHPVIISPDR	IEELSVVNHA
310	320	330	340	350	360
YNGLTLGAGL	SLAQVKDILA	DVVQKLPEEK	TQMYHALLKH	LGTLAGSQIR	NMASLGGHII
370	380	390	400	410	420
SRHPDSDLNP	ILAVGNCTLN	LLSKEGKRQI	PLNEQFLSKC	PNADLKPQEI	LVSVNIPYSR
430	440	450	460	470	480
KWEFVSAFRQ	AQRQENALAI	VNSGMRVFFG	EGDGIIRELC	ISYGGVGPAT	ICAKNSCQKL
490	500	510	520	530	540
IGRHWNEQML	DIACRLILNE	VSLLGSAPGG	KVEFKRTLII	SFLFKFYLEV	SQILKKMDPV
550	560	570	580	590	600
HYPSLADKYE	SALEDLHSKH	HCSTLKYQNI	GPKQHPEDPI	GHPIMHLSGV	KHATGEAIYC
610	620	630	640	650	660
DDMPLVDQEL	FLTFVTSSRA	HAKIVSIDLS	EALSMPGVVD	IMTAEHLSDV	NSFCFFTEAE
670	680	690	700	710	720
KFLATDKVFC	VGQLVCAVLA	DSEVQAKRAA	KRVKIVYQDL	EPLILTIEES	IQHNSSFKPE
730	740	750	760	770	780
RKLEYGNVDE	AFKVVDQILE	GEIHMGGQEH	FYMETQSMLV	VPKGEDQEMD	VYVSTQFPKY
790	800	810	820	830	840
IQDIVASTLK	LPANKVMCHV	RRVGGAFGGK	VLKTGIIAAV	TAFAANKHGR	AVRCVLERGE
850	860	870	880	890	900
DMLITGGRHP	YLGKYKAGFM	NDGRILALDM	EHYSNAGASL	DESLFVIEMG	LLKMDNAYKF
910	920	930	940	950	960
PNLRCRGWAC	RTNLPSNTAF	RGFGFPQAAL	ITESCITEVA	AKCGLSPEKV	RIINMYKEID
970	980	990	1000	1010	1020
QTPYKQEINA	KNLIQCWREC	MAMSSYSLRK	VAVEKFNAEN	YWKKKGLAMV	PLKFPVGLGS
1030	1040	1050	1060	1070	1080
RAAGQAAALV	HIYLDGSVLV	THGGIEMGQG	VHTKMIQVVS	RELRMPMSNV	HLRGTSTETV
1090	1100	1110	1120	1130	1140
PNANISGGSV	VADLNGLAVK	DACQTLLKRL	EPIISKNPKG	TWKDWAQTAF	DESINLSAVG
1150	1160	1170	1180	1190	1200
YFRGYESDMN	WEKGEGQPFE	YFVYGAACSE	VEIDCLTGDH	KNIRTDIVMD	VGCSINPAID
1210	1220	1230	1240	1250	1260
IGQIEGAFIQ	GMGLYTIEEL	NYSPQGILHT	RGPDQYKIPA	ICDMPTELHI	ALLPPSQNSN
1270	1280	1290	1300	1310	1320
TLYSSKGLGE	SGVFLGCSVF	FAIHDAVSAA	RQERGLHGPL	TLNSPLTPEK	IRMACEDKFT
1330
KMIPRDEPGS	YVPWNVPI