AiPD: Autoinhibited Protein Database

P21580

Gene name	TNFAIP3 (OTUD7C)
Protein name	Tumor necrosis factor alpha-induced protein 3
Names	TNF alpha-induced protein 3 , EC 2.3.2.- , EC 3.4.19.12 , OTU domain-containing protein 7C , Putative DNA-binding protein A20 , Zinc finger protein A20 [Cleaved into: A20p50; A20p37]
Species	Homo sapiens (Human)
KEGG Pathway	hsa:7128
EC number	3.4.19.12: Omega peptidases
Protein Class

Descriptions

Deubiquitinating enzymes of the ovarian tumor (OTU) family regulate cellular signaling by targeting distinct linkage types within polyubiquitin. OTUD7B regulates inflammation and NF-kB signaling, T-cell activation, and EGFR trafficking. OTUD7B is autoinhibited by the Cys-loop that occupies the channel that binds the C-terminal tail of distal ubiquitin.

Autoinhibitory domains (AIDs)

96-102 (Cys-loop) SS

Target domain	92-263 (OTU domain)
Relief mechanism	Ligand binding
Assay

AID

96-102 (Cys-loop)

Target domain

92-263 (OTU domain)

Relief mechanism

Ligand binding (Binding of Lys11-linked polyubiquitin at the enzymatic S1 site)

Assay

Accessory elements

No accessory elements

References

Mevissen TET et al. (2016) "Molecular basis of Lys11-polyubiquitin specificity in the deubiquitinase Cezanne", Nature, 538, 402-405

Autoinhibited structure

Activated structure

18 structures for P21580

Entry ID	Method	Resolution	Chain	Position	Source
2EQE	NMR	-	A	597-631	PDB
2EQF	NMR	-	A	758-790	PDB
2EQG	NMR	-	A	381-416	PDB
2VFJ	X-ray	320 A	A/B/C/D	1-366	PDB
3DKB	X-ray	250 A	A/B/C/D/E/F	1-370	PDB
3OJ3	X-ray	250 A	I/J/K/L/M/N/O/P	592-635	PDB
3OJ4	X-ray	340 A	C/F	592-635	PDB
3VUW	X-ray	195 A	E/F/G	757-789	PDB
3VUX	X-ray	170 A	E/F/G	757-790	PDB
3VUY	X-ray	198 A	D/E/F	757-790	PDB
3ZJD	X-ray	187 A	A/B	1-366	PDB
3ZJE	X-ray	184 A	A/B	1-366	PDB
3ZJF	X-ray	220 A	A/B	1-366	PDB
3ZJG	X-ray	192 A	A/B	1-366	PDB
5LRX	X-ray	285 A	A/C/E/F	1-366	PDB
5V3B	X-ray	300 A	A/B/C/D/E/F	1-366	PDB
5V3P	X-ray	250 A	A/B/C/D/E/F	1-366	PDB
AF-P21580-F1	Predicted				AlphaFoldDB

1311 variants for P21580

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV001329556 rs1461832435	8	Q>*	Autoinflammatory syndrome, familial, Behcet-like [ClinVar]	Yes	ClinVar dbSNP gnomAD
rs529257107 RCV003269064 RCV002015431	58	P>T	Inborn genetic diseases [ClinVar]	Yes	ClinVar 1000Genomes ExAC dbSNP gnomAD
RCV001333513 RCV003770851 rs1776060477	76	T>I	Autoinflammatory syndrome, familial, Behcet-like [ClinVar]	Yes	ClinVar Ensembl dbSNP
CA162407 RCV001515328 rs146534657 RCV003103729 RCV000122145 COSM36249	102	N>S	Autoinflammatory syndrome, familial, Behcet-like 1 large_intestine haematopoietic_and_lymphoid_tissue [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000894168 RCV003114268 RCV000122146 RCV002466435 CA162409 rs376205580 COSM1581845	108	T>A	Autoinflammatory syndrome, familial, Behcet-like 1 A20 haploinsufficiency haematopoietic_and_lymphoid_tissue [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD
RCV000963875 CA162411 RCV000122147 RCV001802897 VAR_020447 rs5029941	125	A>V	Autoinflammatory syndrome, familial, Behcet-like [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
VAR_022143 CA162415 RCV001443508 RCV000122149 RCV003103986 rs2230926 COSM1685340	127	F>C	Autoinflammatory syndrome, familial, Behcet-like 1 thyroid haematopoietic_and_lymphoid_tissue [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
COSM35931 rs1423560438 RCV003229628 RCV001948310	183	R>*	Autoinflammatory syndrome, familial, Behcet-like 1 haematopoietic_and_lymphoid_tissue [ClinVar, Cosmic]	Yes	cosmic curated ClinVar dbSNP gnomAD
RCV002272794 rs1423560438	183	R>G	Autoinflammatory syndrome, familial, Behcet-like 1 [ClinVar]	Yes	ClinVar dbSNP gnomAD
RCV002466436 CA162417 rs141807543 RCV000894169 RCV003114269 RCV000122150	207	I>L	Autoinflammatory syndrome, familial, Behcet-like 1 A20 haploinsufficiency [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001874760 rs201505674 RCV002551153	219	E>G	Inborn genetic diseases [ClinVar]	Yes	ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA347929 RCV002508766 rs864321682	224	F>missing	Autoinflammatory syndrome, familial, Behcet-like 1 [ClinVar]	Yes	ClinGen ClinVar dbSNP
RCV002508765 CA279928 rs864321625	227	L>*	Autoinflammatory syndrome, familial, Behcet-like 1 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
VAR_076302	243	C>Y	AIFBL1; increases inflammatory cytokine secretion; increases NF-kappaB signaling [UniProt]	Yes	UniProt
CA162419 RCV001000590 RCV000122151 RCV002517605 rs587778711	248	I>V	Autoinflammatory syndrome, familial, Behcet-like [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA347916 RCV002508770 rs864321685	268	P>missing	Autoinflammatory syndrome, familial, Behcet-like 1 [ClinVar]	Yes	ClinGen ClinVar dbSNP
RCV000579071 CA279910 rs864321626 COSM35978 RCV002508767	271	R>*	Autoinflammatory syndrome, familial, Behcet-like 1 large_intestine haematopoietic_and_lymphoid_tissue [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
CA162421 rs200840068 RCV001854675 RCV000122152 RCV002498580	280	R>Q	Autoinflammatory syndrome, familial, Behcet-like 1 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs756723486 RCV001289603	294	P>L	Autoinflammatory syndrome, familial, Behcet-like [ClinVar]	Yes	ClinVar ExAC dbSNP gnomAD
RCV002508792 RCV001037789 rs1776278098	305	E>missing	Autoinflammatory syndrome, familial, Behcet-like 1 [ClinVar]	Yes	ClinVar dbSNP
CA347930 RCV002508769 rs864321684	306	Y>*	Autoinflammatory syndrome, familial, Behcet-like 1 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV002549042 rs145745293 RCV002038900	307	L>V	Inborn genetic diseases [ClinVar]	Yes	ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001979833 rs530310566 RCV003136360	310	I>T	Autoinflammatory syndrome, familial, Behcet-like 1 [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
RCV002227348 RCV003089218 rs1210641937	327	A>V	Autoinflammatory syndrome, familial, Behcet-like [ClinVar]	Yes	ClinVar dbSNP gnomAD
rs2114496422 RCV002244082	345	Y>*	Autoinflammatory syndrome, familial, Behcet-like [ClinVar]	Yes	ClinVar Ensembl dbSNP
rs762710607 RCV003348778 RCV002486777 RCV002036393	394	F>L	Autoinflammatory syndrome, familial, Behcet-like 1 Inborn genetic diseases [ClinVar]	Yes	ExAC TOPMed gnomAD ClinVar dbSNP
rs140616865 RCV002478144 RCV001932301	398	V>A	Autoinflammatory syndrome, familial, Behcet-like 1 [ClinVar]	Yes	ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1453719653 RCV003772214 RCV001802671 RCV003163942	432	G>S	Autoinflammatory syndrome, familial, Behcet-like Inborn genetic diseases [ClinVar]	Yes	ClinVar TOPMed dbSNP gnomAD
RCV003769388 rs766691413 RCV001002588	436	G>R	Autoinflammatory syndrome, familial, Behcet-like [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
RCV002113556 RCV003015338 rs143619694	448	W>C	Inborn genetic diseases [ClinVar]	Yes	ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV002508822 rs2114499761	449	N>missing	Autoinflammatory syndrome, familial, Behcet-like 1 [ClinVar]	Yes	ClinVar dbSNP
rs2114500822 RCV002508823 COSM85873	476	M>I	Autoinflammatory syndrome, familial, Behcet-like 1 Variant assessed as Somatic; MODERATE impact. haematopoietic_and_lymphoid_tissue [ClinVar, NCI-TCGA, Cosmic]	Yes	NCI-TCGA Cosmic cosmic curated ClinVar Ensembl dbSNP
rs2114501370 RCV003688947 RCV003147678	493	G>missing	Autoinflammatory syndrome, familial, Behcet-like 1 [ClinVar]	Yes	ClinVar dbSNP
RCV001267803 rs762149390	519	G>R	Autoinflammatory syndrome, familial, Behcet-like [ClinVar]	Yes	ExAC TOPMed gnomAD ClinVar dbSNP
RCV003407525 rs142752989 RCV001394441 RCV001802898 CA162423 RCV000122153	545	A>V	Autoinflammatory syndrome, familial, Behcet-like TNFAIP3-related condition [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001960215 rs374368025 RCV002562072	568	S>L	Inborn genetic diseases [ClinVar]	Yes	ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs2114504458 RCV001814603	577	H>missing	Autoinflammatory syndrome, familial, Behcet-like [ClinVar]	Yes	ClinVar dbSNP
RCV002204540 rs756832433 RCV003308060	586	A>V	Autoinflammatory syndrome, familial, Behcet-like Inborn genetic diseases [ClinVar]	Yes	ClinVar ExAC dbSNP gnomAD
RCV003170241 RCV001970418 rs2114505190	593	Q>E	Inborn genetic diseases [ClinVar]	Yes	ClinVar Ensembl dbSNP
RCV002508768 RCV001853276 rs864321683 CA347924	604	T>missing	Autoinflammatory syndrome, familial, Behcet-like 1 [ClinVar]	Yes	ClinGen ClinVar dbSNP
rs564646155 RCV003407526 RCV000122156 CA162429 RCV003105793	604	T>R	TNFAIP3-related condition [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV001287287 rs1776363649	610	A>T	Autoinflammatory syndrome, familial, Behcet-like [ClinVar]	Yes	ClinVar TOPMed dbSNP gnomAD
RCV001310939 rs1356553444 RCV003416186	622	G>S	TNFAIP3-related condition [ClinVar]	Yes	ClinVar TOPMed dbSNP gnomAD
rs142253225 CA162437 RCV001269328 RCV000122160 RCV000894759	647	T>P	Autoinflammatory syndrome, familial, Behcet-like [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs201429571 RCV001803312 RCV001440372	697	R>K	Autoinflammatory syndrome, familial, Behcet-like [ClinVar]	Yes	ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA162443 rs150355046 RCV001391760 RCV003761750 RCV000122163	744	G>D	Autoinflammatory syndrome, familial, Behcet-like 1 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs143002189 RCV001417505 RCV003761258	788	M>I	Autoinflammatory syndrome, familial, Behcet-like 1 [ClinVar]	Yes	ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs2114457171	2	A>D		No	Ensembl
rs2114457171	2	A>G		No	Ensembl
rs1207080521	2	A>P		No	gnomAD
rs1207080521	2	A>T		No	gnomAD
rs2114457171	2	A>V		No	Ensembl
rs2114457248	3	E>D		No	Ensembl
rs2114457225	3	E>K		No	Ensembl
rs2114457225	3	E>Q		No	Ensembl
rs2114457272	4	Q>*		No	Ensembl
rs2114457272	4	Q>E		No	Ensembl
rs1776048469	4	Q>H		No	TOPMed
rs2114457305	4	Q>L		No	Ensembl
rs2114457362	5	V>D		No	Ensembl
rs2114457362	5	V>G		No	Ensembl
rs2114457344	5	V>L		No	Ensembl
rs2114457420	6	L>F		No	Ensembl
RCV001915392 rs2114457420	6	L>I		No	ClinVar Ensembl dbSNP
rs2114457420	6	L>V		No	Ensembl
rs2114457475	7	P>A		No	Ensembl
rs2114457518	7	P>H		No	Ensembl
rs2114457518	7	P>L		No	Ensembl
TCGA novel rs2114457518	7	P>R	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Ensembl
rs2114457475	7	P>S		No	Ensembl
rs2114457475	7	P>T		No	Ensembl
rs1461832435	8	Q>E		No	gnomAD
rs1212266021	8	Q>H		No	TOPMed gnomAD
rs1461832435	8	Q>K		No	gnomAD
rs1582884850	8	Q>L		No	Ensembl
rs1582884850 RCV000998691	8	Q>R		No	ClinVar Ensembl dbSNP
rs1235795920	9	A>P		No	gnomAD
rs1235795920	9	A>S		No	gnomAD
rs1235795920	9	A>T		No	gnomAD
rs2114457710	10	L>*		No	Ensembl
rs2114457728	10	L>F		No	Ensembl
rs2114457781	11	Y>C		No	Ensembl
rs900039415	11	Y>D		No	TOPMed
rs900039415	11	Y>H		No	TOPMed
rs900039415	11	Y>N		No	TOPMed
COSM1311598 rs1178250150	12	L>F	Variant assessed as Somatic; MODERATE impact. urinary_tract [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD
rs138988092	12	L>M		No	1000Genomes ExAC TOPMed gnomAD
rs1470990172	13	S>C		No	gnomAD
rs1470990172	13	S>G		No	gnomAD
rs2114457877	13	S>I		No	Ensembl
rs2114457877	13	S>N		No	Ensembl
rs2114457908	13	S>R		No	Ensembl
rs2114457960	14	N>K		No	Ensembl
rs2114457942	14	N>S		No	Ensembl
rs2114457994 COSM3858563	15	M>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	Ensembl NCI-TCGA Cosmic
rs2114457974	15	M>K		No	Ensembl
rs1414718116	16	R>G		No	TOPMed gnomAD
rs759654484	16	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs1414718116	16	R>W		No	TOPMed gnomAD
rs2114458120	18	A>G		No	Ensembl
rs2114458175	19	V>E		No	Ensembl
rs1776050169	19	V>L		No	Ensembl
rs1776050169	19	V>M		No	Ensembl
rs1302093455	20	K>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs533720482	20	K>R		No	1000Genomes ExAC TOPMed gnomAD
rs149162594	21	I>K		No	ESP ExAC TOPMed gnomAD
rs149162594 RCV002039513	21	I>T		No	ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs760487792	21	I>V		No	ExAC gnomAD
rs1170624868	22	R>G		No	TOPMed
rs199876928	22	R>L		No	1000Genomes TOPMed gnomAD
rs199876928 RCV001922792	22	R>Q		No	ClinVar 1000Genomes TOPMed dbSNP gnomAD
rs1170624868	22	R>W		No	TOPMed
rs1776051086	23	E>D		No	TOPMed
rs2114458400	23	E>K		No	Ensembl
rs2114458449	24	R>G		No	Ensembl
rs2114458467	24	R>K		No	Ensembl
rs757112036	25	T>I		No	ExAC TOPMed gnomAD
rs778507437	27	E>D		No	ExAC gnomAD
rs2114458508	27	E>Q		No	Ensembl
rs1298627749	28	D>E		No	gnomAD
rs2114458547	28	D>N		No	Ensembl
rs376163335	29	I>F		No	ESP ExAC TOPMed gnomAD
rs1226277551	29	I>T		No	gnomAD
rs2114458654 RCV002000116	30	F>missing		No	ClinVar dbSNP
RCV002214408 rs758096571	30	F>L		No	ClinVar ExAC TOPMed dbSNP gnomAD
rs1324617507	30	F>L		No	TOPMed gnomAD
TCGA novel COSM87318 rs2114458743	31	K>*	haematopoietic_and_lymphoid_tissue Variant assessed as Somatic; HIGH impact. [Cosmic, NCI-TCGA]	No	cosmic curated Ensembl NCI-TCGA
rs1221152008	31	K>T		No	gnomAD
rs746536779	33	T>A		No	ExAC gnomAD
rs2114458797	33	T>S		No	Ensembl
rs1447019862	35	G>E		No	TOPMed
rs1447019862	35	G>V		No	TOPMed
rs770145346	36	I>F		No	ExAC gnomAD
rs1254511072	36	I>M		No	gnomAD
rs2114458898	38	H>Y		No	Ensembl
TCGA novel	39	H>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs778400121	39	H>Y		No	ExAC gnomAD
rs2114458929 RCV001939329	40	F>missing		No	ClinVar dbSNP
rs749663550	40	F>C		No	ExAC gnomAD
rs1776053092	41	K>E		No	TOPMed
TCGA novel	42	T>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs370854824	42	T>S		No	ESP ExAC TOPMed gnomAD
rs2114459068	43	M>I		No	Ensembl
rs1478172750	44	H>Y		No	gnomAD
rs1173941971 RCV001946977	45	R>*		No	ClinVar dbSNP gnomAD
rs1422470027	45	R>Q		No	TOPMed gnomAD
COSM4766048	45	R>T	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs866569497	46	Y>C		No	Ensembl
rs1776054357	46	Y>H		No	TOPMed
rs2114459214	47	T>I		No	Ensembl
rs1171070280	48	L>M		No	gnomAD
rs1776055571	51	F>L		No	TOPMed
rs1372271681	52	R>S		No	gnomAD
rs2114459340	53	T>I		No	Ensembl
rs1407911658	54	C>F		No	gnomAD
rs2114459373	54	C>W		No	Ensembl
COSM3744940 rs1407911658	54	C>Y	liver [Cosmic]	No	cosmic curated gnomAD
rs1776055887 RCV001310938	55	Q>*		No	ClinVar Ensembl dbSNP
rs1776055989	55	Q>P		No	TOPMed
rs1776056086	56	F>Y		No	Ensembl
rs1776056180	57	C>G		No	TOPMed
rs1776056180	57	C>S		No	TOPMed
RCV003238087 rs2114459565	59	Q>missing		No	ClinVar dbSNP
rs2114459550	59	Q>*		No	Ensembl
rs1776057105	59	Q>H		No	TOPMed
rs775364265	61	R>Q		No	ExAC TOPMed gnomAD
rs970781981 COSM3858564	61	R>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic Ensembl NCI-TCGA
rs1776057619	62	E>D		No	TOPMed
rs1311914433	63	I>M		No	TOPMed
rs760820690	63	I>N		No	ExAC gnomAD
rs1776057762	63	I>V		No	TOPMed
rs1344440576	65	H>D		No	TOPMed gnomAD
rs766066388	65	H>R		No	ExAC gnomAD
rs1344440576	65	H>Y		No	TOPMed gnomAD
rs753814942	66	K>E		No	ExAC TOPMed gnomAD
rs1582885173	66	K>I		No	Ensembl
rs764962980	67	A>D		No	ExAC gnomAD
rs764962980	67	A>G		No	ExAC gnomAD
RCV000788650 rs761575322	67	A>S		No	ClinVar ExAC TOPMed dbSNP gnomAD
rs761575322 RCV002275411	67	A>T		No	ClinVar ExAC TOPMed dbSNP gnomAD
RCV001987755 rs1270108606	68	L>F		No	ClinVar TOPMed dbSNP gnomAD
rs1270108606	68	L>I		No	TOPMed gnomAD
RCV002263416 rs548932103	69	I>M		No	ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs1453630800	69	I>N		No	gnomAD
rs1776059660	70	D>E		No	Ensembl
COSM1440711 rs375335818	70	D>N	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs766072179	71	R>G		No	ExAC gnomAD
rs2114460052	71	R>I		No	Ensembl
rs2114460052	71	R>K		No	Ensembl
rs2114460135	73	I>F		No	Ensembl
rs879400474	74	Q>*		No	Ensembl
rs2114460216 COSM355275	74	Q>H	lung [Cosmic]	No	cosmic curated Ensembl
rs1391482330	74	Q>P		No	TOPMed gnomAD
rs2114460253	75	A>D		No	Ensembl
rs1776060246	75	A>T		No	Ensembl
rs2114460253	75	A>V		No	Ensembl
RCV001871303 rs2114460279	76	T>missing		No	ClinVar dbSNP
rs754580592	76	T>S		No	ExAC TOPMed gnomAD
rs2114460379	77	L>M		No	Ensembl
rs148028402 RCV002006499	79	S>R		No	ESP ExAC gnomAD ClinVar dbSNP
rs2114460485	80	Q>K		No	Ensembl
rs1776060806	81	K>E		No	TOPMed
TCGA novel	81	K>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs757858271	81	K>R		No	ExAC gnomAD
rs2114460562	83	L>F		No	Ensembl
rs112229105	83	L>P		No	Ensembl
rs2114460562	83	L>V		No	Ensembl
TCGA novel	84	N>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs751122862	84	N>S		No	gnomAD
COSM35952 rs2114460669 COSM35909	85	W>*	haematopoietic_and_lymphoid_tissue [Cosmic]	No	cosmic curated Ensembl
rs982219027	85	W>C		No	Ensembl
rs772126065	86	C>Y		No	ExAC gnomAD
rs775850329 COSM3829146	87	R>*	Variant assessed as Somatic; HIGH impact. breast [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC TOPMed gnomAD
rs775850329 COSM4837708	87	R>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	87	R>P	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1363086770	87	R>Q		No	TOPMed gnomAD
rs2114460816	88	E>K		No	Ensembl
rs1422450549	90	R>Q		No	TOPMed gnomAD
RCV001928781 rs747030410 COSM1440713	90	R>W	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ClinVar ExAC NCI-TCGA dbSNP
rs1776062028	92	L>F		No	TOPMed
rs1776062028	92	L>V		No	TOPMed
rs768830724	93	V>A		No	ExAC gnomAD
rs776714084	94	A>G		No	ExAC TOPMed gnomAD
RCV002027843 rs776714084	94	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
TCGA novel	96	K>V	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs765166589	97	T>M		No	ExAC gnomAD
rs765166589	97	T>R		No	ExAC gnomAD
rs2114461152	97	T>S		No	Ensembl
rs146004919	98	N>K		No	ESP ExAC TOPMed gnomAD
rs1776182055	99	G>A		No	Ensembl
rs1776182055	99	G>D		No	Ensembl
rs765940525	99	G>S		No	ExAC TOPMed gnomAD
rs2114477204	100	D>G		No	Ensembl
rs2114477204	100	D>V		No	Ensembl
rs2114477255	101	G>D		No	Ensembl
rs1409953541	101	G>R		No	TOPMed gnomAD
RCV001764869 rs1409953541 COSM3858565	101	G>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ClinVar NCI-TCGA TOPMed dbSNP gnomAD
rs1776182766	103	C>F		No	TOPMed
rs1303568469	104	L>I		No	gnomAD
rs2114477377	105	M>I		No	Ensembl
rs766242605 RCV001864294	105	M>L		No	ExAC gnomAD ClinVar dbSNP
rs2114477398	106	H>D		No	Ensembl
rs774035516	106	H>L		No	ExAC TOPMed gnomAD
rs2114477450	106	H>Q		No	Ensembl
rs774035516	106	H>R		No	ExAC TOPMed gnomAD
rs2114477398	106	H>Y		No	Ensembl
rs2114477463	107	A>V		No	Ensembl
rs2114477507	108	T>I		No	Ensembl
rs376205580	108	T>S		No	ExAC TOPMed gnomAD
rs767282565	109	S>C		No	ExAC TOPMed gnomAD
rs767282565	109	S>F		No	ExAC TOPMed gnomAD
rs2114477521	109	S>T		No	Ensembl
rs2114477560	110	Q>*		No	Ensembl
rs2114477578	110	Q>H		No	Ensembl
rs1776183880	112	M>I		No	TOPMed gnomAD
rs1776183558	112	M>L		No	Ensembl
rs760317448	112	M>T		No	ExAC gnomAD
rs988097767	114	G>S		No	TOPMed gnomAD
rs993499364	114	G>V		No	Ensembl
rs2114477744	115	V>G		No	Ensembl
RCV001882124 rs150717698	115	V>I		No	ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs2114477757	117	D>E		No	Ensembl
rs1476286095	120	L>M		No	TOPMed gnomAD
RCV002179183 rs1258341126	121	V>I		No	ClinVar TOPMed dbSNP gnomAD
rs758852294	122	L>P		No	ExAC gnomAD
rs1483266356	125	A>T		No	gnomAD
rs777546537	127	F>L		No	ExAC gnomAD
rs1490792867	127	F>L		No	TOPMed gnomAD
rs2230926	127	F>S		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1464575776	128	S>G		No	gnomAD
rs2114478073	128	S>N		No	Ensembl
rs183020993	129	T>K		No	1000Genomes ExAC TOPMed gnomAD
rs183020993	129	T>M		No	1000Genomes ExAC TOPMed gnomAD
rs1172511918	129	T>P		No	gnomAD
rs2114478187	130	L>H		No	Ensembl
rs1160381325	130	L>V		No	gnomAD
rs1776188950	131	K>R		No	TOPMed
rs926404086	133	T>A		No	Ensembl
rs2114478331	133	T>I		No	Ensembl
rs969699614	134	D>A		No	TOPMed
rs969699614	134	D>G		No	TOPMed
rs2114478346	134	D>H		No	Ensembl
rs2114478346	134	D>N		No	Ensembl
rs2114478416	135	T>I		No	Ensembl
COSM1196932 RCV001899441 rs200740561	136	R>C	lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	NCI-TCGA Cosmic cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
COSM739928 rs1405321250	136	R>H	lung Variant assessed as Somatic; MODERATE impact. large_intestine endometrium [Cosmic, NCI-TCGA]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD
rs1405321250	136	R>P		No	TOPMed gnomAD
rs1324560863 RCV002214409	141	R>C		No	ClinVar TOPMed dbSNP gnomAD
rs765554483	141	R>H		No	gnomAD
rs765554483	141	R>L		No	gnomAD
rs1324560863	141	R>S		No	TOPMed gnomAD
COSM35903 rs2114478594	142	W>*	large_intestine haematopoietic_and_lymphoid_tissue [Cosmic]	No	cosmic curated Ensembl
rs763650703	145	E>A		No	ExAC TOPMed gnomAD
rs2114478689	146	S>Y		No	Ensembl
rs1342868094	147	L>F		No	gnomAD
rs2114478741	147	L>H		No	Ensembl
rs2114478772	149	S>F		No	Ensembl
rs2114478790	150	Q>E		No	Ensembl
rs2114478825	150	Q>H		No	Ensembl
RCV002009312 rs867703039	150	Q>R		No	ClinVar TOPMed dbSNP gnomAD
rs1776192807	151	E>K		No	Ensembl
TCGA novel	152	F>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1272278287	153	V>A		No	gnomAD
rs753319492	154	E>K		No	ExAC TOPMed gnomAD
rs753319492	154	E>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs750716064	155	T>K		No	ExAC TOPMed gnomAD
COSM3858566 RCV002044794 rs750716064	155	T>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs750716064 RCV001757192	155	T>R		No	ClinVar ExAC TOPMed dbSNP gnomAD
rs1431526097	156	G>V		No	gnomAD
rs2114478944 RCV001896642	157	L>missing		No	ClinVar dbSNP
rs751944525	157	L>P		No	ExAC TOPMed gnomAD
rs1390830383	159	Y>C		No	gnomAD
rs918962406	160	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed
rs1442226683	160	D>V		No	gnomAD
rs587778710	162	R>G		No	TOPMed gnomAD
rs144788826	162	R>L		No	ESP ExAC TOPMed gnomAD
RCV001344567 rs144788826	162	R>Q		No	ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA162413 RCV000122148 rs587778710	162	R>W		No	ClinGen ClinVar TOPMed dbSNP gnomAD
rs1776223236	163	N>K		No	Ensembl
rs2114482273	169	D>G		No	Ensembl
rs2114482262	169	D>N		No	Ensembl
rs373331557	170	N>S		No	ESP ExAC TOPMed gnomAD
rs1206967947	171	L>H		No	gnomAD
rs779928915	172	I>T		No	ExAC gnomAD
rs2114482357	173	K>N		No	1000Genomes
COSM1440719	173	K>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2114482384	174	M>K		No	Ensembl
rs1582889822	174	M>V		No	TOPMed
rs2114482398	175	A>D		No	Ensembl
rs1776223812	176	S>C		No	TOPMed
rs1776223812	176	S>F		No	TOPMed
rs2114482432	177	T>I		No	Ensembl
rs1351386580	178	D>E		No	TOPMed gnomAD
rs2114482447	178	D>H		No	Ensembl
rs1239650336	179	T>I		No	Ensembl
rs2114482491	179	T>P		No	Ensembl
rs746814438	180	P>A		No	ExAC TOPMed gnomAD
rs2114482534	180	P>H		No	Ensembl
rs746814438	180	P>S		No	ExAC TOPMed gnomAD
rs1776224407	181	M>I		No	Ensembl
rs768346040	181	M>K		No	ExAC TOPMed gnomAD
rs768346040 RCV002006625	181	M>T		No	ClinVar ExAC TOPMed dbSNP gnomAD
rs776217388	182	A>D		No	ExAC gnomAD
rs1237744126	182	A>T		No	TOPMed
rs776217388	182	A>V		No	ExAC gnomAD
rs375378882 COSM1440721	183	R>L	large_intestine [Cosmic]	No	cosmic curated ESP ExAC TOPMed gnomAD
rs375378882	183	R>P		No	ESP ExAC TOPMed gnomAD
rs375378882 COSM1440720 RCV002047326	183	R>Q	large_intestine [Cosmic]	No	cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs147932545 RCV002030802	184	S>N		No	ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs2114482690	184	S>R		No	Ensembl
rs1319799977	185	G>A		No	TOPMed gnomAD
rs2114482750	186	L>I		No	Ensembl
rs2114482783 COSM303672	187	Q>*	Variant assessed as Somatic; HIGH impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated Ensembl
rs2114482834	189	N>K		No	Ensembl
rs759993608	189	N>S		No	ExAC TOPMed gnomAD
rs2114482865	192	E>Q		No	Ensembl
rs2114482885	193	E>K		No	Ensembl
rs2114482910	196	I>K		No	Ensembl
RCV001928644 rs2114482896	196	I>V		No	ClinVar Ensembl dbSNP
rs2114482921	197	F>I		No	1000Genomes
rs1344067146	197	F>S		No	gnomAD
rs1776225778	198	V>F		No	TOPMed
COSM5404454	199	L>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2114483015	200	C>*		No	Ensembl
rs973575962	200	C>G		No	Ensembl
rs2114483006	200	C>S		No	Ensembl
rs899059690	202	I>M		No	TOPMed gnomAD
rs1438336177	203	L>F		No	gnomAD
rs1304472508	204	R>G		No	gnomAD
rs2114483125	204	R>K		No	Ensembl
COSM1581846 rs2114483170	205	R>S	Variant assessed as Somatic; MODERATE impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated Ensembl
rs768012213	206	P>L		No	ExAC
rs141807543	207	I>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ESP ExAC NCI-TCGA TOPMed gnomAD
rs754045894	208	I>F		No	ExAC TOPMed gnomAD
rs2114483278	208	I>T		No	1000Genomes
rs754045894	208	I>V		No	ExAC TOPMed gnomAD
RCV001752245 rs765193387	209	V>F		No	ClinVar ExAC dbSNP
rs765193387	209	V>I		No	ExAC
rs765193387	209	V>L		No	ExAC
rs758353383	210	I>F		No	ExAC
rs780201198	211	S>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA
COSM1132027	212	D>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs145706326	214	M>R		No	ESP TOPMed gnomAD
rs2114484635	216	R>T		No	Ensembl
TCGA novel rs1276578378	217	S>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
COSM1487263	217	S>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1776234966	219	E>K		No	TOPMed gnomAD
rs2114484720	220	S>L		No	Ensembl
rs2114484734	223	N>K		No	Ensembl
rs370381369	224	F>L		No	ESP ExAC TOPMed gnomAD
COSM1073797 rs751503246 RCV001884217	225	A>T	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs151032703	226	P>H		No	ESP ExAC TOPMed gnomAD
rs2114484833	226	P>S		No	Ensembl
rs2114484833	226	P>T		No	Ensembl
rs1776236153	229	V>M		No	Ensembl
rs1197750585	230	G>S		No	TOPMed gnomAD
rs2114484975	231	G>R		No	Ensembl
TCGA novel	232	I>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs2114485013	233	Y>F		No	Ensembl
rs2114485060	234	L>F		No	Ensembl
rs1231893076	234	L>V		No	gnomAD
rs2114485076	237	H>L		No	Ensembl
rs2114485076	237	H>P		No	Ensembl
rs2114485125 RCV001727380	238	W>*		No	ClinVar Ensembl dbSNP
rs2114485110	238	W>*		No	Ensembl
rs1392687028	240	A>D		No	gnomAD
rs780807041	240	A>T		No	ExAC gnomAD
rs1392687028	240	A>V		No	gnomAD
rs2114485231	242	E>K		No	Ensembl
RCV000514573 rs1554225021 CA365784300	243	C>R		No	ClinGen ClinVar Ensembl dbSNP
rs2114485283	245	R>T		No	Ensembl
rs1582890276	246	Y>C		No	TOPMed gnomAD
rs1582890276	246	Y>S		No	TOPMed gnomAD
rs1276825869	247	P>A		No	TOPMed gnomAD
rs2114485367	247	P>H		No	Ensembl
rs1276825869	247	P>S		No	TOPMed gnomAD
TCGA novel	248	I>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs2114485426	249	V>I		No	Ensembl
TCGA novel rs2114485439	250	L>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Ensembl
rs777456133	251	G>S		No	ExAC gnomAD
rs1776238299	252	Y>C		No	gnomAD
rs565804696	253	D>E		No	1000Genomes ExAC TOPMed gnomAD
rs748791817	253	D>Y		No	ExAC gnomAD
COSM150186 rs61756235	254	S>N	stomach [Cosmic]	No	cosmic curated Ensembl
rs1350749287	254	S>R		No	TOPMed gnomAD
rs1009357613	255	H>L		No	TOPMed
rs1009357613	255	H>P		No	TOPMed
rs2114485627	256	H>L		No	Ensembl
rs868838378	256	H>Y		No	Ensembl
rs140951984	258	V>I		No	ESP ExAC TOPMed gnomAD
rs140951984	258	V>L		No	ESP ExAC TOPMed gnomAD
rs2114485672	259	P>H		No	Ensembl
rs1273199420	259	P>S		No	gnomAD
rs1020793649	261	V>L		No	Ensembl
rs776802501	264	K>N		No	ExAC gnomAD
rs2114485770	266	S>R		No	Ensembl
rs1340493697	267	G>E		No	gnomAD
rs2114485840	268	P>R		No	Ensembl
rs2114485829	268	P>S		No	Ensembl
rs967427622	269	E>D		No	Ensembl
rs763827898	271	R>Q		No	ExAC TOPMed gnomAD
rs2114489692	272	A>P		No	Ensembl
rs2114489706	273	V>I		No	Ensembl
rs2114489742 RCV001891079	275	L>P		No	ClinVar Ensembl dbSNP
rs2114489755	276	V>D		No	Ensembl
rs200583935	277	N>D		No	1000Genomes ExAC TOPMed gnomAD
rs1173687713	278	R>K		No	gnomAD
rs200840068	280	R>P		No	ESP ExAC TOPMed gnomAD
RCV002091285 rs150198888	280	R>W		No	ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs201456101	281	G>E		No	1000Genomes ExAC gnomAD
rs2114489897	281	G>R		No	Ensembl
rs2114489933	282	R>T		No	Ensembl
rs1582891373	285	D>E		No	Ensembl
COSM3777142	285	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs781531580	288	V>A		No	ExAC gnomAD
rs1410081650	288	V>I		No	TOPMed gnomAD
rs1333487581	289	H>Q		No	TOPMed gnomAD
rs1776275893	291	L>W		No	Ensembl
rs1178336615	292	T>I		No	TOPMed
rs1562271279	293	D>E		No	Ensembl
rs2114490118	293	D>N		No	Ensembl
rs2114490151	294	P>S		No	Ensembl
rs2114490232	295	E>K		No	Ensembl
rs1562271298	296	N>I		No	TOPMed
rs778212786	297	E>*		No	ExAC gnomAD
rs1041432977	297	E>D		No	TOPMed
rs1435485371	298	M>I		No	Ensembl
rs1208610132	299	K>N		No	gnomAD
rs200371583 RCV002035855	300	E>G		No	ClinVar ExAC TOPMed dbSNP gnomAD
rs201943285	300	E>K		No	ExAC TOPMed gnomAD
rs200371583	300	E>V		No	ExAC TOPMed gnomAD
rs2114490425 COSM35913	302	L>P	large_intestine haematopoietic_and_lymphoid_tissue [Cosmic]	No	cosmic curated Ensembl
rs774698980 RCV001327608	304	K>E		No	ClinVar ExAC dbSNP gnomAD
CA365787429 rs1199757092 RCV000519695	305	E>A		No	ClinGen ClinVar TOPMed dbSNP gnomAD
rs1199757092	305	E>G		No	TOPMed gnomAD
TCGA novel	305	E>S	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1776278891	308	M>L		No	TOPMed
rs775454372	308	M>R		No	ExAC gnomAD
rs775454372	308	M>T		No	ExAC gnomAD
rs2114490686	309	V>L		No	Ensembl
rs2114490686	309	V>M		No	Ensembl
rs2114490745	312	I>N		No	Ensembl
rs2114490783	313	P>L		No	Ensembl
rs2114490832	314	V>D		No	Ensembl
rs776397709	314	V>I		No	ExAC gnomAD
rs2114490892	316	G>D		No	Ensembl
rs1301419455	316	G>S		No	TOPMed gnomAD
COSM35974 rs2114490906	317	W>*	haematopoietic_and_lymphoid_tissue [Cosmic]	No	cosmic curated Ensembl
rs764767669	319	H>N		No	ExAC gnomAD
rs2114490939 RCV002044038	319	H>R		No	ClinVar Ensembl dbSNP
rs2114490969	320	G>D		No	Ensembl
rs1302500579	321	T>I		No	gnomAD
rs1776280774	322	T>I		No	gnomAD
rs765877219	323	H>R		No	ExAC gnomAD
RCV002007612 rs2114491041	324	L>missing		No	ClinVar dbSNP
TCGA novel	324	L>Q	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1435262909	324	L>V		No	TOPMed gnomAD
rs1776281313	325	I>T		No	TOPMed
rs1249399597	325	I>V		No	gnomAD
rs1582891630	326	N>K		No	Ensembl
rs930573886	326	N>S		No	TOPMed gnomAD
rs1210641937	327	A>G		No	gnomAD
COSM450583	327	A>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1776281643	327	A>T		No	TOPMed
rs751123351	328	A>T		No	ExAC TOPMed gnomAD
rs1776282083	329	K>E		No	TOPMed
rs1406164317 RCV001968139	331	D>H		No	ClinVar TOPMed dbSNP
rs1406164317	331	D>N		No	TOPMed
rs2114496175	332	E>Q		No	Ensembl
rs2114496205 COSM35925 RCV002035488	335	L>*	haematopoietic_and_lymphoid_tissue [Cosmic]	No	cosmic curated ClinVar Ensembl dbSNP
rs747150217	335	L>V		No	ExAC TOPMed gnomAD
rs1162114698 RCV001965894	336	P>S		No	ClinVar TOPMed dbSNP gnomAD
rs2114496275	338	E>Q		No	Ensembl
rs2114496288	339	I>T		No	Ensembl
rs1261510652	340	N>S		No	gnomAD
rs1424690340	342	V>I		No	gnomAD
rs371548901 RCV000998692	345	Y>H		No	ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs1776323506	346	F>V		No	TOPMed
rs2114496466	347	E>K		No	Ensembl
rs2114496476	350	Q>E		No	Ensembl
rs776591390	350	Q>H		No	ExAC TOPMed gnomAD
rs1419653281	350	Q>L		No	gnomAD
rs1163634415	352	E>G		No	gnomAD
RCV001934977 rs2114496555	352	E>Q		No	ClinVar Ensembl dbSNP
rs761577416	353	Y>F		No	ExAC gnomAD
rs769585030	354	K>E		No	ExAC TOPMed gnomAD
rs374987145	354	K>N		No	ESP ExAC TOPMed gnomAD
rs888517622 COSM35946	356	W>*	haematopoietic_and_lymphoid_tissue [Cosmic]	No	cosmic curated Ensembl
rs888517622	356	W>C		No	Ensembl
rs2114496684	357	Q>*		No	Ensembl
rs762603645	358	E>G		No	ExAC gnomAD
rs1776324395	358	E>K		No	TOPMed gnomAD
rs1004332178	359	N>D		No	TOPMed gnomAD
rs2114496786 COSM1545270	359	N>K	lung [Cosmic]	No	cosmic curated Ensembl
rs1776324713	360	S>G		No	TOPMed
rs765957007	360	S>R		No	ExAC TOPMed gnomAD
rs1232874267	361	E>D		No	gnomAD
RCV002194658 rs751096907	361	E>K		No	ClinVar ExAC TOPMed dbSNP gnomAD
rs2114496860	361	E>V		No	Ensembl
rs2114496900 COSM330660	362	Q>*	haematopoietic_and_lymphoid_tissue [Cosmic]	No	cosmic curated Ensembl
rs2114496900	362	Q>E		No	Ensembl
rs967260183	362	Q>P		No	TOPMed gnomAD
rs2114496949	363	G>E		No	Ensembl
rs1285487825	363	G>R		No	gnomAD
rs1582892979 RCV000802864	364	R>missing		No	ClinVar dbSNP
COSM1440733 rs2114497011	364	R>K	large_intestine [Cosmic]	No	cosmic curated Ensembl
rs2114496994	364	R>W		No	Ensembl
rs1218573061	365	R>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	Ensembl NCI-TCGA
rs2114497046 RCV001951237	366	E>missing		No	ClinVar dbSNP
rs2114497088	366	E>G		No	Ensembl
COSM1073799	366	E>G	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2114497126	367	G>A		No	Ensembl
rs764662789 RCV002033874	367	G>R		No	ClinVar ExAC TOPMed dbSNP gnomAD
rs754444866	368	H>D		No	ExAC TOPMed gnomAD
rs2114497188	368	H>L		No	Ensembl
rs2114497240	369	A>D		No	Ensembl
rs1035582992	369	A>S		No	TOPMed gnomAD
rs1035582992	369	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs2114497260	370	Q>*		No	Ensembl
rs1776326418	371	N>I		No	TOPMed
rs2114497287	372	P>A		No	Ensembl
rs1776326527	373	M>T		No	Ensembl
rs781716884	374	E>D		No	ExAC TOPMed gnomAD
TCGA novel	374	E>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1412110672	375	P>A		No	gnomAD
rs1401875569	375	P>H		No	TOPMed gnomAD
RCV001373154 rs1401875569	375	P>L		No	ClinVar TOPMed dbSNP gnomAD
COSM1634521	375	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs368146619	377	V>L		No	ESP ExAC TOPMed gnomAD
COSM23072 rs368146619	377	V>M	lung [Cosmic]	No	cosmic curated ESP ExAC TOPMed gnomAD
rs2114497433	378	P>S		No	Ensembl
rs2114497459	379	Q>H		No	Ensembl
rs758633419	380	L>P		No	ExAC gnomAD
rs371258341 RCV001969488	381	S>F		No	ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs747062102	382	L>V		No	ExAC gnomAD
rs2114497576	383	M>I		No	Ensembl
rs768774832	383	M>L		No	ExAC gnomAD
rs1289146384 RCV001883428	383	M>R		No	ClinVar TOPMed dbSNP gnomAD
rs1289146384	383	M>T		No	TOPMed gnomAD
rs2114497599	385	V>I		No	Ensembl
rs1776327919	388	E>D		No	TOPMed
rs2114497617	388	E>K		No	Ensembl
RCV001879685 COSM5709878 rs1776328032	389	T>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ClinVar TOPMed dbSNP
rs1776328253	390	P>L		No	TOPMed
rs1776328253	390	P>R		No	TOPMed
rs2114497692	390	P>T		No	Ensembl
rs769627029	391	N>K		No	ExAC TOPMed gnomAD
RCV002102552 rs748081889	391	N>S		No	ClinVar ExAC TOPMed dbSNP gnomAD
rs2114497763	392	C>Y		No	Ensembl
rs1213621768	393	P>A		No	gnomAD
rs1776328846	393	P>R		No	Ensembl
rs2114497839	394	F>I		No	Ensembl
rs1582893140	395	F>L		No	Ensembl
rs774184566	395	F>L		No	ExAC
rs2114497922	396	M>I		No	Ensembl
rs1776329344	396	M>T		No	TOPMed
rs1485528552	397	S>C		No	gnomAD
rs1485528552	397	S>F		No	gnomAD
rs1485528552	397	S>Y		No	gnomAD
rs991653477	398	V>L		No	TOPMed
rs991653477	398	V>M		No	TOPMed
rs1776330212	400	T>I		No	Ensembl
rs1776330212	400	T>N		No	Ensembl
rs2114498080	402	P>S		No	Ensembl
rs2114498080	402	P>T		No	Ensembl
rs587778715	403	L>*		No	ExAC TOPMed gnomAD
rs2114498140	403	L>F		No	Ensembl
CA162435 RCV000122159 rs587778715	403	L>S		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs2114498158	404	C>*		No	Ensembl
rs370736888	405	H>R		No	ESP ExAC gnomAD
rs765675314	406	E>K		No	ExAC gnomAD
rs765675314	406	E>Q		No	ExAC gnomAD
rs2114498238	407	C>G		No	Ensembl
TCGA novel	407	C>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs2114498273	407	C>W		No	Ensembl
rs2114498255	407	C>Y		No	Ensembl
rs1175389845	408	S>L		No	gnomAD
rs2114498286	408	S>T		No	Ensembl
rs1776331041	409	E>K		No	Ensembl
RCV000122157 CA162431 RCV001325584 rs587778713	411	R>Q		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1373396587	411	R>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs2114498428	412	Q>*		No	Ensembl
rs2114498428	412	Q>E		No	Ensembl
rs2114498428	412	Q>K		No	Ensembl
rs557752619	413	K>N		No	1000Genomes ExAC gnomAD
rs1776331369	413	K>R		No	Ensembl
rs751733934	414	N>K		No	ExAC TOPMed gnomAD
rs2114498529	415	Q>E		No	Ensembl
COSM1440736	415	Q>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2114498599	418	L>H		No	Ensembl
rs2114498582	418	L>I		No	Ensembl
rs2114498630	419	P>S		No	Ensembl
rs2114498630	419	P>T		No	Ensembl
rs1440253257	420	K>N		No	TOPMed gnomAD
rs755227859 RCV001975388	421	L>M		No	ClinVar ExAC TOPMed dbSNP gnomAD
COSM120015	421	L>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1368337325	422	N>S		No	gnomAD
rs2114498725	423	S>T		No	Ensembl
rs2114498731	423	S>Y		No	Ensembl
rs781186525	425	P>A		No	ExAC TOPMed gnomAD
COSM204798 rs748195339	425	P>L	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs748195339	425	P>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs781186525	425	P>S		No	ExAC TOPMed gnomAD
rs781186525	425	P>T		No	ExAC TOPMed gnomAD
rs921505456	426	G>D		No	TOPMed gnomAD
rs2114498826	426	G>S		No	Ensembl
rs2114498883	427	P>A		No	Ensembl
rs367828699	427	P>L		No	ESP ExAC TOPMed gnomAD
rs367828699	427	P>R		No	ESP ExAC TOPMed gnomAD
rs2114498948	428	E>G		No	Ensembl
rs774307803	428	E>K		No	ExAC TOPMed gnomAD
rs2114498948	428	E>V		No	Ensembl
rs1231840003	429	G>E		No	gnomAD
rs2114499001	430	L>F		No	Ensembl
rs2114499019	430	L>H		No	Ensembl
rs2114499019	430	L>P		No	Ensembl
rs2114499001	430	L>V		No	Ensembl
rs940301197	431	P>R		No	TOPMed gnomAD
rs1195435394	431	P>S		No	TOPMed gnomAD
rs2114499109	432	G>A		No	Ensembl
rs2114499109	432	G>D		No	Ensembl
rs2114499149	433	M>I		No	Ensembl
rs1168323487	433	M>V		No	TOPMed gnomAD
rs144728856	434	A>E		No	ESP ExAC TOPMed gnomAD
rs144728856 RCV002163239	434	A>V		No	ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs2114499243	435	L>F		No	Ensembl
rs773641974	435	L>H		No	ExAC TOPMed gnomAD
rs773641974	435	L>P		No	ExAC TOPMed gnomAD
rs2114499331	437	A>T		No	Ensembl
rs1776335627	438	S>C		No	TOPMed
rs1776335627 TCGA novel	438	S>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed
rs2114499349	438	S>P		No	Ensembl
rs751928111	439	R>G		No	ExAC TOPMed gnomAD
COSM220190 rs755138189	439	R>L	haematopoietic_and_lymphoid_tissue [Cosmic]	No	cosmic curated ExAC TOPMed gnomAD
rs755138189	439	R>P		No	ExAC TOPMed gnomAD
rs755138189	439	R>Q		No	ExAC TOPMed gnomAD
rs751928111	439	R>W		No	ExAC TOPMed gnomAD
rs752813030	440	G>*		No	ExAC gnomAD
rs752813030	440	G>R		No	ExAC gnomAD
rs2114499498	441	E>G		No	Ensembl
rs777740990	441	E>K		No	ExAC TOPMed gnomAD
rs894381079	442	A>G		No	TOPMed
rs894381079	442	A>V		No	TOPMed
rs371312281	443	Y>C		No	ESP TOPMed
rs2114499541	443	Y>H		No	Ensembl
rs2114499588	444	E>G		No	Ensembl
rs749128615	444	E>K		No	ExAC gnomAD
rs2114499620	445	P>A		No	Ensembl
rs778782828	447	A>G		No	ExAC TOPMed gnomAD
rs757290105	447	A>T		No	ExAC gnomAD
rs778782828	447	A>V		No	ExAC TOPMed gnomAD
rs771836909	448	W>G		No	ExAC gnomAD
rs1776337575	448	W>L		No	Ensembl
rs1776337575	448	W>S		No	Ensembl
rs768003499	449	N>I		No	ExAC TOPMed gnomAD
rs536670759	449	N>K		No	1000Genomes ExAC TOPMed gnomAD
rs768003499	449	N>S		No	ExAC TOPMed gnomAD
rs746506304	449	N>Y		No	ExAC gnomAD
rs763387455	450	P>L		No	ExAC
rs1776338332	450	P>T		No	Ensembl
rs2114499868	451	E>Q		No	Ensembl
rs748602978	451	E>V		No	ExAC TOPMed gnomAD
rs1272884878	452	E>K		No	TOPMed gnomAD
rs1418924460	453	S>A		No	gnomAD
rs1776339008	453	S>C		No	Ensembl
rs1776339008	453	S>F		No	Ensembl
rs1418924460	453	S>T		No	gnomAD
rs587778714	455	G>A		No	ExAC TOPMed gnomAD
RCV000122158 rs587778714 CA162433	455	G>E		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs2114499980	455	G>R		No	Ensembl
rs587778714	455	G>V		No	ExAC TOPMed gnomAD
rs1562272661	456	G>R		No	Ensembl
COSM303677 rs374721883 RCV001438606	456	G>V	haematopoietic_and_lymphoid_tissue [Cosmic]	No	cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD
COSM1440738	457	P>A	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2114500093	457	P>A		No	Ensembl
COSM1440739	457	P>L	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs375007264	457	P>L		No	ESP ExAC TOPMed gnomAD
rs375007264	457	P>R		No	ESP ExAC TOPMed gnomAD
TCGA novel rs2114500093	457	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Ensembl
rs1333498563	458	H>Y		No	TOPMed gnomAD
rs2114500167 COSM35932	459	S>*	haematopoietic_and_lymphoid_tissue [Cosmic]	No	cosmic curated Ensembl
rs2114500167	459	S>L		No	Ensembl
rs2114500215	460	A>P		No	Ensembl
rs2114500215	460	A>T		No	Ensembl
rs2114500232	460	A>V		No	Ensembl
rs1430533454	462	P>L		No	TOPMed gnomAD
rs1168260001	462	P>S		No	TOPMed gnomAD
rs2114500333	463	T>A		No	Ensembl
rs2114500333	463	T>P		No	Ensembl
rs2114500333	463	T>S		No	Ensembl
rs757202453	464	A>E		No	ExAC gnomAD
rs1355740836	464	A>P		No	TOPMed gnomAD
rs1355740836	464	A>T		No	TOPMed gnomAD
rs757202453	464	A>V		No	ExAC gnomAD
rs1776341019	465	P>A		No	TOPMed
rs1776341019	465	P>S		No	TOPMed
rs779050923	466	S>I		No	ExAC gnomAD
rs200878487 RCV002159032	466	S>R		No	ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
COSM739925	467	P>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2114500520	467	P>S		No	Ensembl
rs893872606	468	F>L		No	TOPMed
rs2114500561	469	L>V		No	Ensembl
rs2114500573	470	F>I		No	Ensembl
RCV002132219 rs2114500605	470	F>L		No	Ensembl ClinVar dbSNP
rs1286193367	470	F>S		No	gnomAD
rs1031393159	471	S>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
rs779923282	471	S>R		No	ExAC gnomAD
rs2114500693	472	E>D		No	Ensembl
rs2114500669	472	E>G		No	Ensembl
rs2114500669	472	E>V		No	Ensembl
rs1776342027	473	T>A		No	gnomAD
rs2114500725	473	T>N		No	Ensembl
rs1776342027	473	T>S		No	gnomAD
COSM35970 rs2114500757	474	T>N	haematopoietic_and_lymphoid_tissue [Cosmic]	No	cosmic curated Ensembl
rs2114500742	474	T>P		No	Ensembl
rs2114500742	474	T>S		No	Ensembl
rs2114500778	475	A>D		No	Ensembl
rs2114500778	475	A>G		No	Ensembl
rs2114500837	478	C>G		No	Ensembl
rs2114500852	478	C>Y		No	Ensembl
rs1476320420	479	R>G		No	gnomAD
rs2114500900	479	R>K		No	Ensembl
rs2114500900	479	R>M		No	Ensembl
rs2114500929	479	R>S		No	Ensembl
rs2114500900	479	R>T		No	Ensembl
rs2114500944	480	S>R		No	Ensembl
TCGA novel	481	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs2114501014	482	G>A		No	Ensembl
rs2114501014	482	G>D		No	Ensembl
rs780514490 RCV002035008	482	G>S		No	ClinVar ExAC TOPMed dbSNP gnomAD
rs2114501046	483	C>S		No	Ensembl
rs2114501046	483	C>Y		No	Ensembl
rs2114501092	484	P>S		No	Ensembl
rs2114501109	485	F>L		No	Ensembl
rs2114501122	485	F>L		No	Ensembl
rs2114501169	487	L>P		No	Ensembl
rs2114501186 COSM35937	490	Q>*	haematopoietic_and_lymphoid_tissue [Cosmic]	No	cosmic curated Ensembl
rs774874490	490	Q>H		No	ExAC TOPMed gnomAD
rs2114501186	490	Q>K		No	Ensembl
rs771428531	490	Q>R		No	ExAC gnomAD
rs2114501234	491	H>N		No	Ensembl
rs2114501249	491	H>P		No	Ensembl
rs2114501270	491	H>Q		No	Ensembl
rs1776343024	492	N>H		No	Ensembl
rs772273315	492	N>K		No	ExAC TOPMed gnomAD
rs759868713	492	N>S		No	ExAC gnomAD
rs759868713	492	N>T		No	ExAC gnomAD
rs775952412	493	G>R		No	ExAC gnomAD
rs2114501394	494	F>V		No	Ensembl
rs2114501426	496	E>G		No	Ensembl
rs2114501411	496	E>K		No	Ensembl
rs2114501439	497	R>C		No	Ensembl
rs201074555 RCV002021057	497	R>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs201074555	497	R>P		No	ESP ExAC TOPMed gnomAD
rs2114501439	497	R>S		No	Ensembl
rs1776343617	498	C>S		No	gnomAD
rs1776343617	498	C>Y		No	gnomAD
rs1776343728	499	H>P		No	Ensembl
rs1776343728	499	H>R		No	Ensembl
rs2114501544 RCV002046642	500	N>missing		No	ClinVar dbSNP
rs753953828	500	N>K		No	ExAC TOPMed gnomAD
rs764389516	500	N>S		No	ExAC gnomAD
rs1042443197	501	A>D		No	TOPMed gnomAD
rs141614391	501	A>P		No	ESP ExAC TOPMed gnomAD
rs141614391	501	A>T		No	ESP ExAC TOPMed gnomAD
rs1042443197	501	A>V		No	TOPMed gnomAD
rs765245305	502	R>G		No	ExAC TOPMed gnomAD
rs150513567	502	R>P		No	ESP ExAC TOPMed gnomAD
rs150513567	502	R>Q		No	ESP ExAC TOPMed gnomAD
rs765245305	502	R>W		No	ExAC TOPMed gnomAD
COSM303675 rs2114501763	503	Q>*	haematopoietic_and_lymphoid_tissue [Cosmic]	No	cosmic curated Ensembl
rs375599053	503	Q>H		No	ESP ExAC TOPMed gnomAD
rs779649904	504	L>F		No	ExAC TOPMed
rs2114501811	505	H>L		No	Ensembl
rs2114501811	505	H>P		No	Ensembl
rs751386175	505	H>Q		No	ExAC TOPMed gnomAD
rs780969004	506	A>P		No	ExAC gnomAD
rs780969004	506	A>S		No	ExAC gnomAD
rs780969004	506	A>T		No	ExAC gnomAD
rs769339129	507	S>G		No	ExAC TOPMed gnomAD
rs777284556	507	S>N		No	ExAC TOPMed gnomAD
rs2114501937	507	S>R		No	Ensembl
rs2114502009	509	A>G		No	Ensembl
rs746331032	509	A>P		No	ExAC TOPMed gnomAD
RCV001994145 rs746331032	509	A>T		No	ClinVar ExAC TOPMed dbSNP gnomAD
COSM3994617	509	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1470094578	510	P>L		No	gnomAD
rs772635182	511	D>E		No	ExAC TOPMed gnomAD
rs2114502064	511	D>H		No	Ensembl
rs2114502064	511	D>N		No	Ensembl
rs1420409577	512	H>Y		No	gnomAD
RCV002120035 rs2114502128	513	T>A		No	ClinVar Ensembl dbSNP
rs1270192570	513	T>I		No	TOPMed
rs1377658242	514	R>K		No	gnomAD
rs1377658242	514	R>M		No	gnomAD
rs1433186763	514	R>S		No	gnomAD
rs2114502224	515	H>L		No	Ensembl
rs960145182	515	H>Q		No	TOPMed gnomAD
TCGA novel	516	L>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs2114502262	516	L>M		No	Ensembl
rs775658507	516	L>W		No	ExAC gnomAD
rs768755720	517	D>E		No	ExAC gnomAD
rs140357085	517	D>N		No	ESP ExAC gnomAD
rs2114502353	518	P>L		No	Ensembl
rs2114502353	518	P>R		No	Ensembl
rs1776348084	518	P>S		No	Ensembl
rs2114502428	519	G>E		No	Ensembl
rs1776348522	520	K>N		No	TOPMed
rs2114502494	521	C>G		No	Ensembl
rs2114502494	521	C>S		No	Ensembl
rs2114502514	521	C>Y		No	Ensembl
rs765370005	522	Q>E		No	ExAC gnomAD
rs2114502594	523	A>D		No	Ensembl
rs773432623	523	A>T		No	ExAC gnomAD
rs2114502594	523	A>V		No	Ensembl
rs2114502660	524	C>*		No	Ensembl
rs1776349020	524	C>S		No	Ensembl
rs1776349020 TCGA novel	524	C>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Ensembl
rs2114502703	526	Q>H		No	Ensembl
RCV001207889 rs1776349161	527	D>A		No	ClinVar TOPMed dbSNP
rs1776349161	527	D>V		No	TOPMed
RCV001905008 rs1305036781	528	V>A		No	ClinVar TOPMed dbSNP gnomAD
rs1776349880	530	R>S		No	Ensembl
rs1562272981	530	R>W		No	gnomAD
rs762743325	531	T>I		No	ExAC TOPMed gnomAD
RCV001892163 rs2114502933	535	I>missing		No	ClinVar dbSNP
rs1776350428	535	I>L		No	TOPMed
rs1776350601	535	I>M		No	Ensembl
rs1776350428	535	I>V		No	TOPMed
rs2114502965	536	C>Y		No	Ensembl
rs894353032	538	T>A		No	Ensembl
rs1481109549	538	T>I		No	gnomAD
rs1481109549	538	T>S		No	gnomAD
rs2114503012	539	C>Y		No	Ensembl
rs2114503047	540	F>Y		No	Ensembl
rs1368900394	542	R>G		No	TOPMed gnomAD
rs2114503127	542	R>S		No	Ensembl
rs2114503105	542	R>T		No	Ensembl
COSM3858568	543	T>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2114503142	543	T>S		No	Ensembl
RCV001894056 rs751311141	544	T>A		No	ClinVar ExAC TOPMed dbSNP gnomAD
rs983815738	544	T>I		No	TOPMed
rs2114503199	545	A>P		No	Ensembl
rs2114503199	545	A>T		No	Ensembl
rs1776352055	546	E>K		No	gnomAD
rs1776352055	546	E>Q		No	gnomAD
rs1402976300	547	A>D		No	TOPMed gnomAD
rs2114503263	547	A>P		No	Ensembl
rs1453115418	548	S>C		No	gnomAD
rs1453115418	548	S>F		No	gnomAD
rs2114503323	548	S>P		No	Ensembl
rs1173453843	549	S>P		No	gnomAD
rs767130578	550	S>G		No	ExAC TOPMed gnomAD
rs587778712 RCV003114270 CA162425 RCV000122154	551	L>F		No	ClinGen ClinVar ExAC dbSNP gnomAD
rs1776353310	551	L>H		No	TOPMed gnomAD
rs1776353310	551	L>P		No	TOPMed gnomAD
rs2114503499	552	S>N		No	Ensembl
RCV001925562 rs1169217800	552	S>R		No	ClinVar TOPMed dbSNP gnomAD
rs2114503550 RCV001922780	553	T>I		No	ClinVar Ensembl dbSNP
rs2114503533	553	T>P		No	Ensembl
rs1289164642	554	S>G		No	TOPMed
rs2114503607	554	S>N		No	Ensembl
rs2114503644	554	S>R		No	Ensembl
rs2114503607	554	S>T		No	Ensembl
rs2114503670	555	L>R		No	Ensembl
rs755791613	555	L>V		No	ExAC gnomAD
TCGA novel rs1325986802	556	P>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
rs1325986802	556	P>L		No	gnomAD
rs1445471764	556	P>T		No	gnomAD
rs2114503751	557	P>L		No	Ensembl
rs745973283	559	C>G		No	ExAC TOPMed gnomAD
rs745973283	559	C>R		No	ExAC TOPMed gnomAD
rs745973283	559	C>S		No	ExAC TOPMed gnomAD
rs2114503837	559	C>S		No	Ensembl
RCV001954668 rs2114503837	559	C>Y		No	ClinVar Ensembl dbSNP
rs1776354654	560	H>N		No	TOPMed
rs1776354654	560	H>Y		No	TOPMed
rs1438595983	561	Q>H		No	gnomAD
rs2114503910	562	R>C		No	Ensembl
rs2114503925	562	R>H		No	Ensembl
rs2114503940	564	K>N		No	Ensembl
rs370705859	565	S>L		No	ESP ExAC TOPMed gnomAD
TCGA novel	565	S>P	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1307820633	566	D>H		No	gnomAD
COSM297488	566	D>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2114504044	567	P>L		No	Ensembl
rs1249779148	567	P>S		No	gnomAD
rs1249779148	567	P>T		No	gnomAD
rs374368025	568	S>*		No	ESP ExAC TOPMed gnomAD
rs1467566767 RCV001999036	569	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinVar NCI-TCGA TOPMed dbSNP gnomAD
rs769014911	569	R>W		No	ExAC TOPMed gnomAD
rs1776356342	570	L>R		No	gnomAD
rs1562273213 COSM1568054	571	V>A	large_intestine [Cosmic]	No	cosmic curated Ensembl
rs748312513	571	V>F		No	ExAC TOPMed gnomAD
rs1562273213	571	V>G		No	Ensembl
rs748312513 COSM35967	571	V>I	haematopoietic_and_lymphoid_tissue [Cosmic]	No	cosmic curated ExAC TOPMed gnomAD
rs748312513 RCV001356144	571	V>L		No	ClinVar ExAC TOPMed dbSNP gnomAD
rs556022420	572	R>Q		No	1000Genomes ExAC TOPMed gnomAD
rs1430601409	572	R>W		No	TOPMed gnomAD
rs2114504383	573	S>C		No	Ensembl
rs2114504383	573	S>G		No	Ensembl
rs2114504404	573	S>N		No	Ensembl
COSM85870 rs2114504434	574	P>L	haematopoietic_and_lymphoid_tissue [Cosmic]	No	cosmic curated Ensembl
rs1582894296	575	S>P		No	Ensembl
rs1371049929	576	P>A		No	gnomAD
rs773410176	576	P>L		No	ExAC gnomAD
rs773410176	576	P>R		No	ExAC gnomAD
rs1371049929	576	P>S		No	gnomAD
rs1371049929	576	P>T		No	gnomAD
rs766192280	577	H>P		No	ExAC gnomAD
rs766192280	577	H>R		No	ExAC gnomAD
rs2114504624	578	S>F		No	Ensembl
rs1776358721	578	S>P		No	TOPMed gnomAD
rs368025276	579	C>S		No	ESP ExAC TOPMed gnomAD
rs368025276	579	C>Y		No	ESP ExAC TOPMed gnomAD
rs200132284	580	H>L		No	1000Genomes ExAC gnomAD
RCV001872824 rs200132284	580	H>P		No	ClinVar 1000Genomes ExAC dbSNP gnomAD
rs1776359311	580	H>Q		No	Ensembl
rs200132284	580	H>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	1000Genomes ExAC NCI-TCGA gnomAD
rs767263437	581	R>G		No	ExAC TOPMed gnomAD
RCV001996836 rs1481327273	581	R>I		No	ClinVar dbSNP gnomAD
rs932831486	582	A>T		No	Ensembl
RCV001907823 rs2114504766	583	G>E		No	ClinVar Ensembl dbSNP
rs2114504755	583	G>R		No	Ensembl
rs2114504785	584	N>D		No	Ensembl
rs2114504785	584	N>H		No	Ensembl
rs1383766410	584	N>I		No	TOPMed gnomAD
rs1383766410	584	N>S		No	TOPMed gnomAD
rs2114504785	584	N>Y		No	Ensembl
rs190199205	585	D>H		No	1000Genomes ExAC TOPMed gnomAD
rs190199205	585	D>N		No	1000Genomes ExAC TOPMed gnomAD
rs2114504894	585	D>V		No	Ensembl
rs190199205	585	D>Y		No	1000Genomes ExAC TOPMed gnomAD
rs756832433	586	A>G		No	ExAC gnomAD
rs753284576	586	A>S		No	ExAC TOPMed gnomAD
rs753284576 COSM87319 RCV001396407	586	A>T	haematopoietic_and_lymphoid_tissue [Cosmic]	No	cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD
rs150056192 RCV002188803	587	P>L		No	ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs2114504985	587	P>T		No	Ensembl
rs1776361012	588	A>D		No	Ensembl
rs1776360918	588	A>P		No	Ensembl
rs1776360918	588	A>T		No	Ensembl
rs1776361012	588	A>V		No	Ensembl
rs1261881772	589	G>A		No	gnomAD
rs1261881772	589	G>D		No	gnomAD
rs2114505114	590	C>*		No	Ensembl
rs2114505095	590	C>Y		No	Ensembl
rs145392420	591	L>M		No	ESP ExAC TOPMed gnomAD
rs755443140	591	L>P		No	ExAC TOPMed gnomAD
rs145392420 RCV001531024 CA162427 RCV000122155	591	L>V		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
TCGA novel	593	Q>P	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs2114505199	594	A>T		No	Ensembl
rs2114505223	594	A>V		No	Ensembl
rs781640878	595	A>S		No	ExAC gnomAD
rs781640878	595	A>T		No	ExAC gnomAD
rs536079833	596	R>G		No	ExAC TOPMed gnomAD
rs946809001	596	R>Q		No	TOPMed gnomAD
COSM4734849 rs536079833	596	R>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
rs749301399	597	T>I		No	ExAC gnomAD
rs2114505356	598	P>A		No	Ensembl
rs770998300	598	P>R		No	ExAC gnomAD
rs2114505410	599	G>E		No	Ensembl
rs759454764	600	D>N		No	ExAC TOPMed gnomAD
rs759454764	600	D>Y		No	ExAC TOPMed gnomAD
rs2114505483 TCGA novel	601	R>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Ensembl
rs2114505490	601	R>K		No	Ensembl
rs760531232	602	T>K		No	ExAC TOPMed gnomAD
rs760531232	602	T>M		No	ExAC TOPMed gnomAD
rs2114505520	602	T>P		No	Ensembl
rs760531232	602	T>R		No	ExAC TOPMed gnomAD
rs1461891321	603	G>E		No	TOPMed gnomAD
rs2114505614	603	G>R		No	Ensembl
rs1461891321	603	G>V		No	TOPMed gnomAD
rs564646155	604	T>M		No	1000Genomes ExAC TOPMed gnomAD
COSM4171476 rs864321683	604	T>R	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA
rs2114505725	605	S>N		No	Ensembl
rs2114505745	605	S>R		No	Ensembl
rs2114505804	607	C>Y		No	Ensembl
rs2114505847	608	R>K		No	Ensembl
rs2114505847	608	R>T		No	Ensembl
rs781780756	609	K>N		No	ExAC TOPMed gnomAD
rs2114505929	610	A>D		No	Ensembl
rs2114505929	610	A>G		No	Ensembl
rs1776363649	610	A>P		No	TOPMed gnomAD
rs2114505929	610	A>V		No	Ensembl
rs1316806305	611	G>A		No	TOPMed
rs1316806305	611	G>D		No	TOPMed
COSM739924 RCV002009811 rs756591879	611	G>S	lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	NCI-TCGA Cosmic cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs1316806305 RCV001954838	611	G>V		No	ClinVar TOPMed dbSNP
rs2114506070	612	C>W		No	Ensembl
rs778025601 RCV002002219	613	V>M		No	ClinVar ExAC TOPMed dbSNP gnomAD
COSM129796 rs1582894564	614	Y>C	upper_aerodigestive_tract Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	NCI-TCGA Cosmic cosmic curated Ensembl
rs2114506167	615	F>L		No	Ensembl
rs1171389977 RCV001887766	615	F>S		No	ClinVar dbSNP gnomAD
rs2114506178	616	G>E		No	Ensembl
rs749489927	617	T>A		No	ExAC TOPMed gnomAD
rs2114506218	617	T>N		No	Ensembl
rs2114506262 RCV003238568	618	P>Q		No	ClinVar Ensembl dbSNP
rs1259241302	618	P>S		No	TOPMed gnomAD
rs2114506279	620	N>K		No	Ensembl
rs2114506295	621	K>M		No	Ensembl
rs1482052537	621	K>N		No	gnomAD
rs1356553444 COSM739923	622	G>C	lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	NCI-TCGA Cosmic cosmic curated TOPMed gnomAD
rs1180841002	622	G>D		No	gnomAD
rs1169022254	623	F>V		No	TOPMed
COSM3697535	624	C>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1776367463 RCV002146512	625	T>I		No	ClinVar TOPMed dbSNP
rs2114506440	625	T>S		No	Ensembl
rs1064796470 CA16618247 RCV000481925	626	L>missing		No	ClinGen ClinVar dbSNP
COSM3994618	626	L>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2114506479	626	L>P		No	Ensembl
COSM35973	627	C>F	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs533627971	629	I>F		No	1000Genomes ExAC gnomAD
rs745995933	629	I>M		No	ExAC gnomAD
rs1776368322	630	E>G		No	TOPMed
rs771994702	630	E>K		No	ExAC TOPMed gnomAD
rs760441058	631	Y>C		No	ExAC gnomAD
rs1776368827	632	R>K		No	Ensembl
RCV001897228 rs768400274	633	E>G		No	ClinVar ExAC dbSNP gnomAD
COSM1545268 RCV002044581 COSM6172806 rs1776368987	633	E>K	lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	cosmic curated NCI-TCGA Cosmic ClinVar Ensembl dbSNP
rs1776368987	633	E>Q		No	Ensembl
rs1582894685	634	N>Y		No	Ensembl
RCV001867316 rs2114506723	635	K>missing		No	ClinVar dbSNP
rs200138929	636	H>D		No	ExAC TOPMed gnomAD
rs1776394607	636	H>P		No	TOPMed
rs1776394698	636	H>Q		No	TOPMed gnomAD
rs200138929	636	H>Y		No	ExAC TOPMed gnomAD
rs2114510106	638	A>V		No	Ensembl
rs1006535674	639	A>P		No	TOPMed
rs1006535674	639	A>T		No	TOPMed
rs2114510171	640	A>S		No	Ensembl
rs762713211	642	G>R		No	ExAC gnomAD
rs762713211	642	G>W		No	ExAC gnomAD
rs774006529 RCV001889837	645	S>C		No	ClinVar ExAC dbSNP gnomAD
rs1776395594	645	S>N		No	Ensembl
rs764569875	646	P>L		No	ExAC gnomAD
rs142253225	647	T>A		No	1000Genomes ESP ExAC TOPMed gnomAD
rs757603637	648	A>P		No	ExAC gnomAD
COSM3858569 rs543704449	648	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs2114510385	649	S>T		No	Ensembl
rs1776396761	650	R>G		No	TOPMed
rs1463476564	650	R>K		No	TOPMed gnomAD
rs1463476564	650	R>M		No	TOPMed gnomAD
rs780049410	654	T>I		No	ExAC gnomAD
rs780049410	654	T>N		No	ExAC gnomAD
rs780049410	654	T>S		No	ExAC gnomAD
rs2114510516	656	P>A		No	Ensembl
COSM23074 rs1490946222	656	P>L	lung [Cosmic]	No	cosmic curated TOPMed gnomAD
rs2114510516	656	P>T		No	Ensembl
rs1776397740	658	L>M		No	Ensembl
rs2114510650	659	G>E		No	Ensembl
rs781029642	659	G>R		No	ExAC TOPMed gnomAD
rs781029642	659	G>W		No	ExAC TOPMed gnomAD
rs1295834301	660	R>K		No	gnomAD
rs1295834301	660	R>T		No	gnomAD
COSM35950 rs747949400	661	E>*	haematopoietic_and_lymphoid_tissue [Cosmic]	No	cosmic curated ExAC gnomAD
rs747949400	661	E>K		No	ExAC gnomAD
rs747949400	661	E>Q		No	ExAC gnomAD
rs2114510785	663	G>D		No	Ensembl
rs773168508	663	G>S		No	ExAC TOPMed gnomAD
rs748886968	665	L>V		No	ExAC TOPMed gnomAD
rs770724964	666	G>E		No	ExAC gnomAD
rs2114510875	667	S>N		No	Ensembl
rs1776400233	668	T>A		No	TOPMed
rs773988691	668	T>N		No	ExAC gnomAD
rs2114510957	669	M>K		No	Ensembl
rs764633014	669	M>T		No	ExAC gnomAD
rs1776400561	669	M>V		No	Ensembl
rs1201185543	671	E>K		No	gnomAD
rs2114511018	672	G>V		No	Ensembl
rs2114511049	673	Y>*		No	Ensembl
rs2114511081	674	C>*		No	Ensembl
rs2114511081	674	C>W		No	Ensembl
rs1776401028	674	C>Y		No	TOPMed
COSM1440743	678	F>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
RCV001854676 CA162439 rs140610274 RCV000122161	679	I>T		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs1776401404	681	A>V		No	TOPMed
rs961008678	683	N>K		No	TOPMed gnomAD
rs765478795	685	R>G		No	ExAC gnomAD
rs2114511242	685	R>T		No	Ensembl
rs1776402271	687	H>Q		No	TOPMed
rs2114511318	689	A>D		No	Ensembl
rs1210083095	689	A>T		No	Ensembl
rs1776402839	690	K>E		No	TOPMed
rs2114511374	691	R>G		No	Ensembl
rs2114511389	691	R>K		No	Ensembl
rs1390734628	692	T>S		No	gnomAD
rs563370728	694	E>G		No	1000Genomes ExAC gnomAD
rs1562274122	695	Q>*		No	Ensembl
rs2114511463	696	L>V		No	Ensembl
rs201429571	697	R>I		No	1000Genomes ESP ExAC TOPMed gnomAD
rs763346708	698	S>L		No	ExAC TOPMed gnomAD
rs2114515324	699	S>G		No	Ensembl
rs986729047	699	S>N		No	gnomAD
rs1239716309	699	S>R		No	gnomAD
rs772293188 RCV001914853	701	R>C		No	ClinVar ExAC TOPMed dbSNP gnomAD
rs775745583	701	R>H		No	ExAC TOPMed gnomAD
rs772293188	701	R>S		No	ExAC TOPMed gnomAD
rs1239202557	702	R>G		No	TOPMed gnomAD
rs767426499	704	V>A		No	ExAC gnomAD
rs2114515455	704	V>M		No	Ensembl
rs2114515523	705	P>S		No	Ensembl
COSM3920793 rs1255599518	706	R>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD
rs1255599518	706	R>G		No	TOPMed gnomAD
RCV001874262 rs3734553	706	R>Q		No	ClinVar ExAC TOPMed dbSNP gnomAD
rs2114515600	708	T>K		No	Ensembl
rs530746098	709	Q>P		No	1000Genomes ExAC gnomAD
rs1776436980	710	S>G		No	Ensembl
rs1236927449	711	T>P		No	gnomAD
rs2114515699	712	S>L		No	Ensembl
RCV002514656 CA162441 rs369155845 RCV000122162	714	P>A		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs2114515754	714	P>L		No	Ensembl
rs369155845 RCV002126825	714	P>S		No	ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs369155845	714	P>T		No	1000Genomes ESP ExAC TOPMed gnomAD
rs760432930	715	K>E		No	ExAC gnomAD
rs1056180816	715	K>T		No	TOPMed
rs745470461	716	C>G		No	ExAC gnomAD
rs1776438573	716	C>S		No	Ensembl
rs561168863	717	A>P		No	1000Genomes ExAC TOPMed gnomAD
rs561168863	717	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1400896020	718	R>G		No	TOPMed gnomAD
rs779416381	718	R>P		No	ExAC gnomAD
rs779416381	718	R>Q		No	ExAC gnomAD
rs1400896020	718	R>W		No	TOPMed gnomAD
rs2114515960	719	A>T		No	Ensembl
rs2114515975	719	A>V		No	Ensembl
rs2114516024	720	S>A		No	Ensembl
rs2114516024	720	S>P		No	Ensembl
rs1776439799	721	C>*		No	Ensembl
rs770253229	721	C>G		No	ExAC TOPMed gnomAD
rs2114516055	721	C>Y		No	Ensembl
rs2114516111	722	K>N		No	Ensembl
rs1776439899	722	K>R		No	Ensembl
rs146720688	723	N>D		No	ESP
rs1303885847	723	N>K		No	TOPMed gnomAD
rs2114516156	724	I>V		No	Ensembl
rs2114516173	725	L>M		No	Ensembl
rs2114516213	726	A>T		No	Ensembl
rs2114516230	726	A>V		No	Ensembl
rs2114516246	727	C>Y		No	Ensembl
rs373799889	728	R>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ESP NCI-TCGA gnomAD
rs776383838	728	R>H		No	ExAC TOPMed gnomAD
rs373799889	728	R>S		No	ESP gnomAD
rs771242660	729	S>R		No	ExAC TOPMed gnomAD
rs774778736	730	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA gnomAD
rs566459368 COSM4821637	731	E>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	1000Genomes ExAC TOPMed gnomAD NCI-TCGA Cosmic
rs1357325525	731	E>K		No	TOPMed gnomAD
rs1357325525	731	E>Q		No	TOPMed gnomAD
rs1776441800	733	C>S		No	Ensembl
rs896139263	734	M>I		No	TOPMed
rs1776442192	734	M>T		No	TOPMed
rs1052554166	734	M>V		No	TOPMed
rs767841490	735	E>D		No	ExAC TOPMed gnomAD
rs1457721551	736	C>R		No	gnomAD
rs199673474	738	H>L		No	1000Genomes ExAC
rs2114516545	738	H>Y		No	Ensembl
rs2114516604	739	P>H		No	Ensembl
rs2114516581	739	P>S		No	Ensembl
rs2114516618	740	N>K		No	Ensembl
rs2114516641	741	Q>H		No	Ensembl
rs2114516631	741	Q>K		No	Ensembl
rs1413961187	742	R>M		No	TOPMed
rs2114516671	742	R>S		No	Ensembl
rs2114516716	743	M>K		No	Ensembl
rs552233795	743	M>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	1000Genomes ExAC NCI-TCGA gnomAD
rs552233795	743	M>V		No	1000Genomes ExAC gnomAD
rs764102841	744	G>S		No	ExAC gnomAD
rs892427607	745	P>H		No	TOPMed gnomAD
rs892427607	745	P>L		No	TOPMed gnomAD
rs757292177	745	P>S		No	ExAC gnomAD
rs2114516905	746	G>E		No	Ensembl
rs2114516873	746	G>R		No	Ensembl
rs1397420807	747	A>P		No	gnomAD
rs1397420807	747	A>T		No	gnomAD
rs1323621461	747	A>V		No	gnomAD
rs1483594433	748	H>L		No	TOPMed gnomAD
rs1483594433	748	H>P		No	TOPMed gnomAD
RCV001987490 rs778784894	748	H>Q		No	ClinVar ExAC TOPMed dbSNP gnomAD
rs1483594433	748	H>R		No	TOPMed gnomAD
rs568826568	749	R>G		No	1000Genomes TOPMed gnomAD
rs201238112 RCV002173539	749	R>Q		No	ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs568826568	749	R>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	1000Genomes NCI-TCGA TOPMed gnomAD
rs1384904933	750	G>C		No	gnomAD
rs1016313423	750	G>D		No	TOPMed
rs1384904933	750	G>R		No	gnomAD
rs1016313423	750	G>V		No	TOPMed
rs2114517187 COSM1440744	751	E>G	large_intestine [Cosmic]	No	cosmic curated Ensembl
rs2114517175 COSM35908	751	E>K	Variant assessed as Somatic; MODERATE impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated Ensembl
rs1776446274	752	P>L		No	Ensembl
COSM1685337 rs138068339 RCV002137661	752	P>S	haematopoietic_and_lymphoid_tissue [Cosmic]	No	cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
COSM35914 rs1316276096	753	A>T	haematopoietic_and_lymphoid_tissue [Cosmic]	No	cosmic curated gnomAD
rs1313596498	753	A>V		No	Ensembl
rs779794658	754	P>A		No	ExAC gnomAD
rs746478308	754	P>L		No	ExAC TOPMed gnomAD
rs779794658	754	P>T		No	ExAC gnomAD
rs2114517383	755	E>A		No	Ensembl
rs2114517383	755	E>G		No	Ensembl
COSM5498943 rs780709741	755	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD
rs780709741	755	E>Q		No	ExAC gnomAD
rs749724405	756	D>A		No	ExAC TOPMed gnomAD
rs749724405	756	D>G		No	ExAC TOPMed gnomAD
rs2114517407	756	D>H		No	Ensembl
rs749724405	756	D>V		No	ExAC TOPMed gnomAD
rs771436999	757	P>A		No	ExAC TOPMed gnomAD
rs2114517484	757	P>L		No	Ensembl
rs771436999	757	P>S		No	ExAC TOPMed gnomAD
rs771436999 RCV001699920	757	P>T		No	ClinVar ExAC TOPMed dbSNP gnomAD
rs377038705	758	P>H		No	ESP ExAC TOPMed gnomAD
rs377038705 RCV001346500	758	P>L		No	ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs377038705 COSM43448	758	P>R	haematopoietic_and_lymphoid_tissue [Cosmic]	No	cosmic curated ESP ExAC TOPMed gnomAD
TCGA novel	758	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1776448840	758	P>T		No	TOPMed
rs1369791374 COSM3948073	759	K>N	lung [Cosmic]	No	cosmic curated TOPMed gnomAD
rs2114517562	759	K>Q		No	Ensembl
rs1776449333	759	K>R		No	TOPMed gnomAD
TCGA novel	759	K>S	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs2114517603	760	Q>*		No	Ensembl
rs772156613	760	Q>H		No	ExAC TOPMed gnomAD
rs1582897218	760	Q>R		No	Ensembl
rs2114517667	761	R>C		No	Ensembl
rs368859219 RCV001938838	761	R>H		No	ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs368859219	761	R>L		No	ESP ExAC TOPMed gnomAD
RCV001345940 rs368859219	761	R>P		No	ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs2114517713	762	C>Y		No	Ensembl
rs369621216	763	R>P		No	1000Genomes ExAC gnomAD
rs369621216	763	R>Q		No	1000Genomes ExAC gnomAD
rs867951430 RCV001980035	763	R>W		No	ClinVar TOPMed dbSNP gnomAD
rs1776450552	764	A>G		No	Ensembl
rs1582897255	764	A>P		No	Ensembl
rs1582897255	764	A>T		No	Ensembl
rs1776450552 COSM3858571	764	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic Ensembl
rs2114517843	765	P>R		No	Ensembl
rs1477238294	765	P>S		No	gnomAD
rs5029957 VAR_029319	766	A>P		No	UniProt ExAC dbSNP gnomAD
rs5029957 COSM6027313	766	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD
rs1456318662	766	A>V		No	gnomAD
rs2114517938	767	C>G		No	Ensembl
rs2114517938	767	C>R		No	Ensembl
rs2114517952	767	C>S		No	Ensembl
rs2114517965	767	C>W		No	Ensembl
rs2114517999	768	D>E		No	Ensembl
rs1350079064	768	D>V		No	TOPMed gnomAD
RCV001921997 rs2114518008	769	H>N		No	ClinVar Ensembl dbSNP
rs2114518034	769	H>Q		No	Ensembl
rs2114518008	769	H>Y		No	Ensembl
rs2114518065	771	G>D		No	Ensembl
rs750153407	773	A>D		No	ExAC TOPMed gnomAD
rs573172680	773	A>P		No	1000Genomes ExAC gnomAD
rs573172680	773	A>S		No	1000Genomes ExAC gnomAD
rs573172680	773	A>T		No	1000Genomes ExAC gnomAD
rs750153407	773	A>V		No	ExAC TOPMed gnomAD
rs2114518172	775	C>S		No	Ensembl
rs1402112172	776	N>D		No	gnomAD
COSM73029	776	N>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1407837791	777	G>A		No	TOPMed gnomAD
rs1407837791	777	G>D		No	TOPMed gnomAD
rs766108588	777	G>S		No	ExAC gnomAD
rs1314930460	778	Y>*		No	gnomAD
COSM739922	778	Y>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2114518282	778	Y>F		No	Ensembl
rs2114518318	779	C>Y		No	Ensembl
rs2114518350	780	N>I		No	Ensembl
rs754627876	780	N>K		No	ExAC TOPMed gnomAD
rs1401816938 COSM1440747	781	E>G	large_intestine [Cosmic]	No	cosmic curated gnomAD
COSM3430050 rs2114518393	781	E>K	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated Ensembl
rs2114518393	781	E>Q		No	Ensembl
TCGA novel	782	C>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs2114518427	782	C>Y		No	Ensembl
rs780619781	786	K>T		No	ExAC TOPMed gnomAD
rs2114518500	787	Q>*		No	Ensembl
rs2114518547	790	G>D		No	Ensembl
rs2114518578	791	G>K		No	Ensembl

1 associated diseases with P21580

[MIM: 616744]: Autoinflammatory syndrome, familial, Behcet-like 1 (AIFBL1)

An autosomal dominant, autoinflammatory disorder with early onset, characterized by ulceration of mucosal surfaces, particularly in the oral and genital areas. Additional variable features include skin rash, uveitis, and polyarthritis. . Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

An autosomal dominant, autoinflammatory disorder with early onset, characterized by ulceration of mucosal surfaces, particularly in the oral and genital areas. Additional variable features include skin rash, uveitis, and polyarthritis. . Note=The disease is caused by variants affecting the gene represented in this entry.

8 regional properties for P21580

Type	Name	Position	InterPro Accession
domain	Zinc finger, A20-type	381 - 416	IPR002653-1
domain	Zinc finger, A20-type	472 - 507	IPR002653-2
domain	Zinc finger, A20-type	518 - 541	IPR002653-3
domain	Zinc finger, A20-type	601 - 636	IPR002653-4
domain	Zinc finger, A20-type	651 - 686	IPR002653-5
domain	Zinc finger, A20-type	713 - 738	IPR002653-6
domain	Zinc finger, A20-type	756 - 790	IPR002653-7
domain	OTU domain	92 - 263	IPR003323

Functions

		Description
EC Number	3.4.19.12	Omega peptidases
Subcellular Localization	Cytoplasm Nucleus Lysosome ;
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

5 GO annotations of cellular component

Name	Definition
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
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.
lysosome	A small lytic vacuole that has cell cycle-independent morphology found in most animal cells and that contains a variety of hydrolases, most of which have their maximal activities in the pH range 5-6. The contained enzymes display latency if properly isolated. About 40 different lysosomal hydrolases are known and lysosomes have a great variety of morphologies and functions.
nucleus	A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.

11 GO annotations of molecular function

Name	Definition
cysteine-type deubiquitinase activity	An thiol-dependent isopeptidase activity that cleaves ubiquitin from a target protein to which it is conjugated.
DNA binding	Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid).
identical protein binding	Binding to an identical protein or proteins.
K63-linked deubiquitinase activity	Hydrolysis of a ubiquitin unit from a ubiquitinated protein linked via the Lys63 residue of ubiquitin.
K63-linked polyubiquitin modification-dependent protein binding	Binding to a protein upon poly-ubiquitination formed by linkages between lysine residues at position 63 in the target protein.
kinase binding	Binding to a kinase, any enzyme that catalyzes the transfer of a phosphate group.
protease binding	Binding to a protease or a peptidase.
protein self-association	Binding to a domain within the same polypeptide.
ubiquitin binding	Binding to ubiquitin, a protein that when covalently bound to other cellular proteins marks them for proteolytic degradation.
ubiquitin-protein transferase activity	Catalysis of the transfer of ubiquitin from one protein to another via the reaction X-Ub + Y --> Y-Ub + X, where both X-Ub and Y-Ub are covalent linkages.
zinc ion binding	Binding to a zinc ion (Zn).

48 GO annotations of biological process

Name	Definition
apoptotic process	A programmed cell death process which begins when a cell receives an internal (e.g. DNA damage) or external signal (e.g. an extracellular death ligand), and proceeds through a series of biochemical events (signaling pathway phase) which trigger an execution phase. The execution phase is the last step of an apoptotic process, and is typically characterized by rounding-up of the cell, retraction of pseudopodes, reduction of cellular volume (pyknosis), chromatin condensation, nuclear fragmentation (karyorrhexis), plasma membrane blebbing and fragmentation of the cell into apoptotic bodies. When the execution phase is completed, the cell has died.
B-1 B cell homeostasis	The process of regulating the proliferation and elimination of B cells of the B-1 subset such that the total number of B-1 B cells within a whole or part of an organism is stable over time in the absence of an outside stimulus. B-1 B cells are a distinct subset of B cells characterized as being CD5 positive, found predominantly in the peritoneum, pleural cavities, and spleen, and enriched for self-reactivity.
cell migration	The controlled self-propelled movement of a cell from one site to a destination guided by molecular cues.
cellular response to hydrogen peroxide	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a hydrogen peroxide (H2O2) stimulus.
cellular response to lipopolysaccharide	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a lipopolysaccharide stimulus; lipopolysaccharide is a major component of the cell wall of gram-negative bacteria.
cytoskeleton organization	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures.
establishment of protein localization to vacuole	The directed movement of a protein to a specific location in a vacuole.
inflammatory response	The immediate defensive reaction (by vertebrate tissue) to infection or injury caused by chemical or physical agents. The process is characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages.
negative regulation of B cell activation	Any process that stops, prevents, or reduces the frequency, rate or extent of B cell activation.
negative regulation of bone resorption	Any process that stops, prevents, or reduces the frequency, rate or extent of bone resorption.
negative regulation of canonical NF-kappaB signal transduction	Any process that stops, prevents, or reduces the frequency, rate or extent of -kappaB kinase/NF-kappaB signaling.
negative regulation of CD40 signaling pathway	Any process that stops, prevents or reduces the frequency, rate or extent of signaling via the CD40 signaling pathway.
negative regulation of chronic inflammatory response	Any process that stops, prevents, or reduces the frequency, rate, or extent of a chronic inflammatory response.
negative regulation of endothelial cell apoptotic process	Any process that stops, prevents or reduces the frequency, rate or extent of endothelial cell apoptotic process.
negative regulation of extrinsic apoptotic signaling pathway via death domain receptors	Any process that stops, prevents or reduces the frequency, rate or extent of extrinsic apoptotic signaling pathway via death domain receptors.
negative regulation of inflammatory response	Any process that stops, prevents, or reduces the frequency, rate or extent of the inflammatory response.
negative regulation of innate immune response	Any process that stops, prevents, or reduces the frequency, rate or extent of the innate immune response.
negative regulation of interleukin-1 beta production	Any process that stops, prevents, or reduces the frequency, rate, or extent of interleukin-1 beta production.
negative regulation of interleukin-2 production	Any process that stops, prevents, or reduces the frequency, rate, or extent of interleukin-2 production.
negative regulation of interleukin-6 production	Any process that stops, prevents, or reduces the frequency, rate, or extent of interleukin-6 production.
negative regulation of NF-kappaB transcription factor activity	Any process that stops, prevents, or reduces the frequency, rate or extent of the activity of the transcription factor NF-kappaB.
negative regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway	Any process that stops, prevents, or reduces the frequency, rate, or extent of the nucleotide-binding oligomerization domain containing 1 (NOD1) pathway.
negative regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway	Any process that stops, prevents, or reduces the frequency, rate, or extent of the nucleotide-binding oligomerization domain containing 2 (NOD2) pathway.
negative regulation of osteoclast proliferation	Any process that decreases the rate, frequency, or extent of the multiplication or reproduction of osteoclasts, resulting in the expansion of an osteoclast cell population.
negative regulation of protein ubiquitination	Any process that stops, prevents, or reduces the frequency, rate or extent of the addition of ubiquitin groups to a protein.
negative regulation of smooth muscle cell proliferation	Any process that stops, prevents or reduces the rate or extent of smooth muscle cell proliferation.
negative regulation of toll-like receptor 2 signaling pathway	Any process that stops, prevents, or reduces the frequency, rate, or extent of toll-like receptor 2 signaling pathway.
negative regulation of toll-like receptor 3 signaling pathway	Any process that stops, prevents, or reduces the frequency, rate, or extent of toll-like receptor 3 signaling pathway.
negative regulation of toll-like receptor 4 signaling pathway	Any process that stops, prevents, or reduces the frequency, rate, or extent of toll-like receptor 4 signaling pathway.
negative regulation of toll-like receptor 5 signaling pathway	Any process that stops, prevents, or reduces the frequency, rate, or extent of toll-like receptor 5 signaling pathway.
negative regulation of tumor necrosis factor production	Any process that stops, prevents, or reduces the frequency, rate, or extent of tumor necrosis factor production.
nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway	The series of molecular signals initiated by a ligand binding to a nucleotide-binding domain, leucine rich repeat containing receptor (NLR), and ending with the regulation of a downstream cellular process. NLRs are cytoplasmic receptors defined by their tripartite domain architecture that contains
positive regulation of hepatocyte proliferation	Any process that activates or increases the frequency, rate or extent of hepatocyte proliferation.
positive regulation of protein catabolic process	Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the breakdown of a protein by the destruction of the native, active configuration, with or without the hydrolysis of peptide bonds.
positive regulation of Wnt signaling pathway	Any process that activates or increases the frequency, rate or extent of Wnt signal transduction.
protein deubiquitination	The removal of one or more ubiquitin groups from a protein.
protein K11-linked deubiquitination	A protein deubiquitination process in which a K11-linked ubiquitin chain, i.e. a polymer of ubiquitin formed by linkages between lysine residues at position 11 of the ubiquitin monomers, is removed from a protein.
protein K48-linked deubiquitination	A protein deubiquitination process in which a K48-linked ubiquitin chain, i.e. a polymer of ubiquitin formed by linkages between lysine residues at position 48 of the ubiquitin monomers, is removed from a protein.
protein K48-linked ubiquitination	A protein ubiquitination process in which a polymer of ubiquitin, formed by linkages between lysine residues at position 48 of the ubiquitin monomers, is added to a protein. K48-linked ubiquitination targets the substrate protein for degradation.
protein K63-linked deubiquitination	A protein deubiquitination process in which a K63-linked ubiquitin chain, i.e. a polymer of ubiquitin formed by linkages between lysine residues at position 63 of the ubiquitin monomers, is removed from a protein.
proteolysis	The hydrolysis of proteins into smaller polypeptides and/or amino acids by cleavage of their peptide bonds.
regulation of defense response to virus by host	Any host process that modulates the frequency, rate, or extent of the antiviral response of a host cell or organism.
regulation of germinal center formation	Any process that modulates the frequency, rate, or extent of germinal center formation.
regulation of tumor necrosis factor-mediated signaling pathway	Any process that modulates the rate or extent of the tumor necrosis factor-mediated signaling pathway. The tumor necrosis factor-mediated signaling pathway is the series of molecular signals generated as a consequence of tumor necrosis factor binding to a cell surface receptor.
regulation of vascular wound healing	Any process that modulates the rate, frequency, or extent of blood vessel formation when new vessels emerge from the proliferation of pre-existing blood vessels and contribute to the series of events that restore integrity to damaged vasculature.
response to molecule of bacterial origin	Any process that results in a change in state or activity of an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus by molecules of bacterial origin such as peptides derived from bacterial flagellin.
response to muramyl dipeptide	Any process that results in a change in state or activity of an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a muramyl dipeptide stimulus. Muramyl dipeptide is derived from peptidoglycan.
tolerance induction to lipopolysaccharide	Tolerance induction directed at lipopolysaccharide antigens.

5 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q6GQQ9	OTUD7B	OTU domain-containing protein 7B	Homo sapiens (Human)	EV
Q8TE49	OTUD7A	OTU domain-containing protein 7A	Homo sapiens (Human)	SS
B2RUR8	Otud7b	OTU domain-containing protein 7B	Mus musculus (Mouse)	SS
Q8R554	Otud7a	OTU domain-containing protein 7A	Mus musculus (Mouse)	SS
Q60769	Tnfaip3	Tumor necrosis factor alpha-induced protein 3	Mus musculus (Mouse)	SS

10	20	30	40	50	60
MAEQVLPQAL	YLSNMRKAVK	IRERTPEDIF	KPTNGIIHHF	KTMHRYTLEM	FRTCQFCPQF
70	80	90	100	110	120
REIIHKALID	RNIQATLESQ	KKLNWCREVR	KLVALKTNGD	GNCLMHATSQ	YMWGVQDTDL
130	140	150	160	170	180
VLRKALFSTL	KETDTRNFKF	RWQLESLKSQ	EFVETGLCYD	TRNWNDEWDN	LIKMASTDTP
190	200	210	220	230	240
MARSGLQYNS	LEEIHIFVLC	NILRRPIIVI	SDKMLRSLES	GSNFAPLKVG	GIYLPLHWPA
250	260	270	280	290	300
QECYRYPIVL	GYDSHHFVPL	VTLKDSGPEI	RAVPLVNRDR	GRFEDLKVHF	LTDPENEMKE
310	320	330	340	350	360
KLLKEYLMVI	EIPVQGWDHG	TTHLINAAKL	DEANLPKEIN	LVDDYFELVQ	HEYKKWQENS
370	380	390	400	410	420
EQGRREGHAQ	NPMEPSVPQL	SLMDVKCETP	NCPFFMSVNT	QPLCHECSER	RQKNQNKLPK
430	440	450	460	470	480
LNSKPGPEGL	PGMALGASRG	EAYEPLAWNP	EESTGGPHSA	PPTAPSPFLF	SETTAMKCRS
490	500	510	520	530	540
PGCPFTLNVQ	HNGFCERCHN	ARQLHASHAP	DHTRHLDPGK	CQACLQDVTR	TFNGICSTCF
550	560	570	580	590	600
KRTTAEASSS	LSTSLPPSCH	QRSKSDPSRL	VRSPSPHSCH	RAGNDAPAGC	LSQAARTPGD
610	620	630	640	650	660
RTGTSKCRKA	GCVYFGTPEN	KGFCTLCFIE	YRENKHFAAA	SGKVSPTASR	FQNTIPCLGR
670	680	690	700	710	720
ECGTLGSTMF	EGYCQKCFIE	AQNQRFHEAK	RTEEQLRSSQ	RRDVPRTTQS	TSRPKCARAS
730	740	750	760	770	780
CKNILACRSE	ELCMECQHPN	QRMGPGAHRG	EPAPEDPPKQ	RCRAPACDHF	GNAKCNGYCN

ECFQFKQMYG