AiPD: Autoinhibited Protein Database

Q8IWV7

Gene name	UBR1
Protein name	E3 ubiquitin-protein ligase UBR1
Names	EC 2.3.2.27 , N-recognin-1 , RING-type E3 ubiquitin transferase UBR1 , Ubiquitin-protein ligase E3-alpha-1 , Ubiquitin-protein ligase E3-alpha-I
Species	Homo sapiens (Human)
KEGG Pathway	hsa:197131
EC number	2.3.2.27: Aminoacyltransferases
Protein Class

Descriptions

In Saccharomyces cerevisiae, RING domain-containing Ub ligase UBR1 recognizes and binds to proteins bearing specific N-terminal residues that are destabilizing according to the N-end rule, leading to their ubiquitination and subsequent degradation. Binding of dipeptides with destabilizing N-terminal residues to two substrate-binding sites of UBR1 causes dissociation of the C-terminal autoinhibitory domain of UBR1 from its N-terminal region that contains all three substrate-binding sites. This dissociation allows the interaction between UBR1 and CUP9, a transcriptional repressor of the peptide transporter PTR2, thereby accelerating the UBR1-dependent degradation of CUP9 and increasing the cell's capacity to import peptides. An aspect of autoinhibition characteristic of yeast UBR1 also is observed with mouse UBR1.

Autoinhibitory domains (AIDs)

1491-1749 (C-terminal fragment) SS

Target domain	1-1028 (N-terminal region containing three substrate-binding sites)
Relief mechanism	Ligand binding
Assay

AID

1491-1749 (C-terminal fragment)

Target domain

1-1028 (N-terminal region containing three substrate-binding sites)

Relief mechanism

Ligand binding (Binding of dipeptides with destabilizing N-terminal residues)

Assay

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

Du F et al. (2002) "Pairs of dipeptides synergistically activate the binding of substrate by ubiquitin ligase through dissociation of its autoinhibitory domain", Proceedings of the National Academy of Sciences of the United States of America, 99, 14110-5

Autoinhibited structure

Activated structure

3 structures for Q8IWV7

Entry ID	Method	Resolution	Chain	Position	Source
3NY1	X-ray	208 A	A/B	97-168	PDB
5TDC	X-ray	161 A	A/C	98-168	PDB
AF-Q8IWV7-F1	Predicted				AlphaFoldDB

1568 variants for Q8IWV7

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
VAR_075179	122	V>L	JBS; decreased, but detectable activity in a yeast-based assay [UniProt]	Yes	UniProt
VAR_075180	127	C>F	JBS [UniProt]	Yes	UniProt
RCV000004942 CA117012 VAR_024741 rs119477054	136	H>R	Johanson-Blizzard syndrome Johanson-blizzard syndrome (jbs) JBS; prevents proper folding of the UBR-type zinc finger; may decrease protein stability; loss of activity in a yeast-based assay [ClinVar, Ensembl, UniProt]	Yes	ClinGen ClinVar UniProt dbSNP gnomAD
VAR_075181	166	H>R	JBS [UniProt]	Yes	UniProt
RCV000497879 CA7518977 rs190360605 RCV001252904	202	V>I	Microcephaly [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs2033815615 VAR_075182	217	L>R	JBS [UniProt]	Yes	TOPMed UniProt
VAR_075183	286	I>R	JBS [UniProt]	Yes	UniProt
rs147396426 RCV001330530	316	R>H	Johanson-Blizzard syndrome [ClinVar]	Yes	ClinVar ESP ExAC TOPMed dbSNP gnomAD
VAR_075184	317	L>P	JBS [UniProt]	Yes	UniProt
VAR_075185	389	A>del	JBS [UniProt]	Yes	UniProt
rs77360687 RCV000971625 RCV001819115 RCV001262701	405	S>G	Johanson-Blizzard syndrome [ClinVar]	Yes	ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
VAR_075186 rs1158249054	427	L>R	JBS; uncertain significance [UniProt]	Yes	UniProt dbSNP gnomAD
CA117013 RCV000004944 rs119477055	513	Q>*	Johanson-Blizzard syndrome Johanson-blizzard syndrome (jbs) [ClinVar, Ensembl]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV000431678 CA7518664 rs768686147 VAR_075187	563	A>D	JBS [UniProt]	Yes	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
VAR_075188	660	V>del	JBS [UniProt]	Yes	UniProt
VAR_075189	700	S>P	JBS [UniProt]	Yes	UniProt
rs1388367359 VAR_075190 RCV001266507	754	R>C	Inborn genetic diseases JBS [ClinVar, UniProt]	Yes	ClinVar UniProt dbSNP gnomAD
VAR_075191 RCV001330528 RCV001859277 rs1567131023	754	R>H	Johanson-Blizzard syndrome JBS [ClinVar, UniProt]	Yes	ClinVar UniProt Ensembl dbSNP
CA392070953 RCV002063857 rs1131691524 RCV000494094	758	G>E	Johanson-Blizzard syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV002058447 RCV002503952 CA7518386 VAR_052116 RCV000253719 rs35069201	899	I>V	Johanson-Blizzard syndrome [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001266518 rs267604210	1019	R>*	Inborn genetic diseases [ClinVar]	Yes	ClinVar TOPMed dbSNP gnomAD
RCV000504515 RCV000224677 CA7518195 rs142285781 COSM1372964 RCV003137831	1097	T>M	Johanson-Blizzard syndrome large_intestine [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
VAR_075192	1102	Q>E	JBS; strong decrease in activity in a yeast-based assay [UniProt]	Yes	UniProt
RCV000323538 RCV002519152 CA7518158 rs751554684	1152	Y>C	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1235541565 VAR_075193	1242	R>G	JBS [UniProt]	Yes	UniProt TOPMed dbSNP gnomAD
VAR_024742	1279	G>S	JBS [UniProt]	Yes	UniProt
RCV000190636 rs797045112 CA090953	1369	C>*	Johanson-Blizzard syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
COSM3501336 VAR_075194	1426	P>L	Variant assessed as Somatic; MODERATE impact. JBS [NCI-TCGA, UniProt]	Yes	NCI-TCGA Cosmic UniProt
RCV002016188 rs1480939799 VAR_075195	1427	S>F	JBS [UniProt]	Yes	ClinVar UniProt TOPMed dbSNP gnomAD
VAR_075196 rs140972409	1431	S>P	JBS [UniProt]	Yes	UniProt ESP ExAC TOPMed dbSNP gnomAD
rs374049779 RCV001785111 RCV003560847	1508	Y>*	Johanson-Blizzard syndrome [ClinVar]	Yes	ClinVar ESP ExAC TOPMed dbSNP gnomAD
VAR_075197	1661	G>R	JBS [UniProt]	Yes	UniProt
rs963383651 RCV001170015	1673	C>W	Johanson-Blizzard syndrome [ClinVar]	Yes	ClinVar TOPMed dbSNP
RCV000895159 RCV001252871 rs141828250	1712	R>H	Microcephaly [ClinVar]	Yes	ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs760804119 RCV002592650 RCV001988699	1732	A>S	Inborn genetic diseases [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
rs1451987639	2	A>V		No	gnomAD
rs1370737871	3	D>E		No	gnomAD
COSM4521223	4	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1225011799	5	E>*		No	gnomAD
rs754961922	6	A>P		No	ExAC TOPMed gnomAD
rs754961922	6	A>S		No	ExAC TOPMed gnomAD
rs746895662	6	A>V		No	ExAC gnomAD
rs141411839	7	G>A		No	ESP ExAC TOPMed gnomAD
rs141411839	7	G>V		No	ESP ExAC TOPMed gnomAD
rs1273608997	9	T>A		No	gnomAD
RCV001968655 rs764428187	9	T>I		No	ClinVar ExAC dbSNP gnomAD
rs1273608997	9	T>P		No	gnomAD
rs764428187	9	T>S		No	ExAC gnomAD
rs375377043	10	E>A		No	ESP ExAC TOPMed gnomAD
rs760140949	10	E>D		No	ExAC gnomAD
rs375377043	10	E>G		No	ESP ExAC TOPMed gnomAD
rs756224722	10	E>K		No	ExAC TOPMed gnomAD
rs375377043	10	E>V		No	ESP ExAC TOPMed gnomAD
rs1204703176	11	R>K		No	TOPMed gnomAD
rs2034293410	12	M>L		No	gnomAD
rs1234239450	12	M>T		No	TOPMed
rs774833230	13	E>A		No	ExAC gnomAD
rs2034293308	14	I>V		No	gnomAD
rs765927915	15	S>C		No	ExAC TOPMed gnomAD
rs1476873906	15	S>I		No	TOPMed
rs76172507	16	A>E		No	1000Genomes ESP ExAC TOPMed gnomAD
rs76172507	16	A>G		No	1000Genomes ESP ExAC TOPMed gnomAD
rs772637882	16	A>P		No	ExAC TOPMed gnomAD
rs76172507 RCV000886850	16	A>V		No	ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1166673661	17	E>*		No	TOPMed gnomAD
rs768302047	18	L>I		No	ExAC TOPMed gnomAD
rs150176535	20	Q>E		No	1000Genomes ESP ExAC TOPMed gnomAD
rs546134585	20	Q>P		No	1000Genomes ExAC TOPMed
rs1262786849	21	T>I		No	TOPMed gnomAD
rs1262786849	21	T>N		No	TOPMed gnomAD
rs1596147548	21	T>P		No	Ensembl
TCGA novel	22	P>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs749382782	22	P>L		No	ExAC gnomAD
rs768101403	24	R>H		No	ExAC TOPMed gnomAD
rs768101403	24	R>P		No	ExAC TOPMed gnomAD
rs756384025	25	L>V		No	ExAC TOPMed gnomAD
rs911475352	26	A>T		No	TOPMed gnomAD
rs1285572810	26	A>V		No	gnomAD
rs1200676814	28	W>L		No	gnomAD
rs1307640526	28	W>R		No	TOPMed gnomAD
rs1260647938	29	W>*		No	gnomAD
rs757716545	29	W>R		No	ExAC gnomAD
rs1215211413	30	D>G		No	gnomAD
COSM3987959 rs1387789565	30	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA TOPMed
rs1350797845	31	Q>R		No	TOPMed gnomAD
rs528718889	33	V>A		No	1000Genomes ExAC gnomAD
COSM1188989 rs528718889	33	V>D	lung [Cosmic]	No	cosmic curated 1000Genomes ExAC gnomAD
rs1013810338	34	D>H		No	TOPMed gnomAD
rs1333958683	36	Y>C		No	TOPMed
rs749436984	37	T>A		No	ExAC TOPMed gnomAD
rs1028277827	38	A>G		No	TOPMed
rs1311589528	38	A>S		No	gnomAD
rs1028277827	38	A>V		No	TOPMed
rs2034033814	39	F>L		No	Ensembl
rs1283656979	40	L>S		No	gnomAD
rs2034033717	41	H>Y		No	TOPMed gnomAD
rs2034033690	42	H>R		No	TOPMed
rs1347570103	43	L>V		No	gnomAD
rs2034033503	46	L>S		No	Ensembl
rs1316782070	47	V>A		No	TOPMed
rs2034033429	48	P>S		No	gnomAD
rs759415631	49	E>G		No	ExAC TOPMed gnomAD
rs774125752	50	I>V		No	ExAC TOPMed gnomAD
rs766255677	52	F>C		No	ExAC TOPMed gnomAD
rs2141360904	52	F>L		No	Ensembl
COSM358925 rs1177562942	55	M>I	lung [Cosmic]	No	cosmic curated TOPMed gnomAD
rs2034033256	55	M>T		No	TOPMed
rs1481641383	56	D>V		No	gnomAD
rs2034033074	62	Q>L		No	gnomAD
rs768691069	63	E>D		No	ExAC gnomAD
rs2034032946	64	E>K		No	TOPMed gnomAD
rs1414479860	66	V>G		No	gnomAD
rs2034032881	66	V>I		No	gnomAD
rs747297205	67	Q>R		No	ExAC gnomAD
rs1263709896	68	M>T		No	gnomAD
rs772225984	70	I>V		No	ExAC TOPMed gnomAD
COSM4054767	71	F>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1315852077	72	T>A		No	gnomAD
rs140686087	72	T>I		No	ESP ExAC TOPMed gnomAD
rs267604211	73	P>L		No	Ensembl
rs267604212	73	P>S		No	Ensembl
rs2034032540	74	L>V		No	TOPMed gnomAD
rs779298328	75	E>Q		No	ExAC gnomAD
rs1042167924	79	F>L		No	TOPMed gnomAD
COSM6142136	80	G>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1159947356	82	D>H		No	TOPMed
rs777191438	83	P>S		No	ExAC gnomAD
rs2034032231	85	I>V		No	gnomAD
rs947212743	86	C>S		No	TOPMed gnomAD
rs752458307	87	L>F		No	ExAC TOPMed
rs1398567348	89	K>T		No	gnomAD
rs2034032066	92	H>R		No	TOPMed
rs754633169	93	S>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA gnomAD
rs1475523602	94	G>R		No	TOPMed gnomAD
rs751329469	95	A>G		No	ExAC TOPMed gnomAD
rs751329469	95	A>V		No	ExAC TOPMed gnomAD
rs1374216532	98	L>R		No	TOPMed gnomAD
rs202158437	101	R>K		No	ESP ExAC TOPMed gnomAD
rs1243619104	102	V>I		No	TOPMed gnomAD
rs1596137906	105	S>G		No	Ensembl
rs773195975	105	S>N		No	ExAC TOPMed gnomAD
rs1230952016	109	T>A		No	Ensembl
rs1053447941	109	T>S		No	Ensembl
rs747688821	114	D>G		No	ExAC gnomAD
rs1052837637	114	D>N		No	Ensembl
rs140294470	117	I>V		No	ESP ExAC TOPMed gnomAD
rs2141357793	121	C>G		No	Ensembl
COSM1372968	122	V>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM6142137	124	C>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs751192063	125	M>T		No	ExAC TOPMed gnomAD
rs2033986642	126	D>N		No	gnomAD
rs904194823	130	D>N		No	Ensembl
rs1596136293	132	V>I		No	Ensembl
rs576341424	135	N>S		No	1000Genomes gnomAD
rs119477054	136	H>L	Johanson-blizzard syndrome (jbs) [Ensembl]	No	gnomAD
rs765166092	137	R>C		No	ExAC gnomAD
RCV000936636 rs201509699	137	R>H		No	ClinVar ExAC TOPMed dbSNP gnomAD
rs2033986200	139	K>R		No	TOPMed
rs757922598	140	M>I		No	ExAC gnomAD
rs1290564440	141	H>P		No	TOPMed gnomAD
rs1290564440	141	H>R		No	TOPMed gnomAD
rs983350121	141	H>Y		No	TOPMed
rs2033871171	144	T>I		No	TOPMed
rs59574876	145	G>*		No	Ensembl
rs2033871055	148	F>S		No	TOPMed
rs2033871055	148	F>Y		No	TOPMed
rs750251744	150	D>A		No	ExAC gnomAD
rs778630364	154	T>A		No	ExAC TOPMed gnomAD
rs778630364	154	T>P		No	ExAC TOPMed gnomAD
COSM2187887	157	W>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2033870791	158	K>I		No	TOPMed
COSM3420309	158	K>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs926026005	160	G>C		No	TOPMed
rs950562532	160	G>D		No	Ensembl
rs926026005	160	G>R		No	TOPMed
rs2033870688	161	P>L		No	TOPMed gnomAD
TCGA novel	163	C>V	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1208176018	163	C>W		No	TOPMed gnomAD
rs144415580	164	V>I		No	ESP ExAC gnomAD
rs551627937	165	N>K		No	1000Genomes ExAC TOPMed gnomAD
TCGA novel	166	H>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1395983775	168	P>R		No	gnomAD
rs759651076	169	G>V		No	ExAC gnomAD
rs2033870373	170	R>G		No	Ensembl
rs1216649445	171	A>V		No	gnomAD
rs763034473	174	I>M		No	ExAC
rs766653121	174	I>V		No	ExAC TOPMed gnomAD
rs773755976	175	K>E		No	ExAC gnomAD
rs139723559	179	R>C		No	ESP ExAC TOPMed gnomAD
rs376029932	179	R>H		No	1000Genomes ESP ExAC TOPMed gnomAD
rs777067165 COSM1708068	181	P>L	Variant assessed as Somatic; MODERATE impact. skin [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD
rs1384967387	182	L>F		No	gnomAD
rs1000411391	183	N>H		No	Ensembl
rs761040799	185	E>Q		No	ExAC TOPMed gnomAD
rs1474560079	188	V>I		No	TOPMed gnomAD
rs775115817	189	Q>E		No	ExAC TOPMed gnomAD
rs771451861	190	A>T		No	ExAC gnomAD
rs2033816759	190	A>V		No	TOPMed
rs2033816726	191	R>K		No	gnomAD
rs745591226	192	K>R		No	ExAC TOPMed gnomAD
rs1420320653	193	I>M		No	TOPMed
rs1411664896	194	F>L		No	TOPMed gnomAD
rs1165416575	195	P>S		No	Ensembl
rs2033816459 COSM1269655	196	S>L	oesophagus [Cosmic]	No	cosmic curated Ensembl
COSM3501347	197	V>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1332420217	198	I>M		No	TOPMed gnomAD
rs756124027	198	I>V		No	ExAC TOPMed gnomAD
rs149864087	200	Y>F		No	ESP ExAC TOPMed gnomAD
rs2033816062	202	V>A		No	gnomAD
rs985792161	206	I>L		No	TOPMed gnomAD
rs985792161	206	I>V		No	TOPMed gnomAD
rs1290370381	208	E>D		No	gnomAD
rs1246127178	209	E>K		No	gnomAD
COSM3816111 rs1361453557	210	E>K	breast [Cosmic]	No	cosmic curated gnomAD
COSM700540	212	E>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs951788556	212	E>Q		No	TOPMed gnomAD
rs1222883490	212	E>V		No	TOPMed gnomAD
rs752329091	215	P>L		No	TOPMed gnomAD
rs752329091	215	P>R		No	TOPMed gnomAD
rs62020750	215	P>T		No	Ensembl
COSM3887001	216	E>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs139686505 RCV000957684	218	Q>H		No	ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1364003992	218	Q>R		No	gnomAD
rs1425420064	219	I>K		No	gnomAD
rs2033815310	219	I>M		No	Ensembl
rs1262458487	221	E>V		No	gnomAD
rs1322561177	222	K>E		No	gnomAD
rs1283759042	223	N>S		No	gnomAD
rs1224339094	224	E>K		No	gnomAD
rs1011385263	225	R>S		No	TOPMed
COSM1301139	225	R>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
CA16607782 RCV000434346 rs1057523835	226	Y>S		No	ClinGen ClinVar Ensembl dbSNP
rs1381752228	227	Y>C		No	gnomAD
rs1194845467	228	C>F		No	Ensembl
rs778267578	230	L>P		No	ExAC gnomAD
rs2033775560	232	N>D		No	TOPMed
TCGA novel	233	D>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1757124370	234	E>K		No	TOPMed
rs895218250	235	H>R		No	gnomAD
rs1177677093	236	H>N		No	gnomAD
rs768020434	240	H>D		No	ExAC gnomAD
rs751115743	241	V>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs765839529	242	I>V		No	ExAC TOPMed gnomAD
rs1410206314	245	L>P		No	TOPMed
rs1171876647	246	Q>R		No	TOPMed
COSM470664	250	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs150617078	251	C>F		No	ESP ExAC TOPMed gnomAD
rs1348809716	251	C>R		No	TOPMed gnomAD
rs1348809716	251	C>S		No	TOPMed gnomAD
rs2033774730	253	L>R		No	TOPMed
rs746922418	254	A>S		No	ExAC TOPMed gnomAD
RCV001933678 rs746922418	254	A>T		No	ClinVar ExAC TOPMed dbSNP gnomAD
rs779175153	254	A>V		No	ExAC gnomAD
COSM4738804	255	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs201386354	256	A>S		No	1000Genomes
rs2033774496	257	Q>R		No	Ensembl
rs2033774387	258	L>S		No	TOPMed
rs569992095	258	L>V		No	1000Genomes TOPMed gnomAD
rs2033774387	258	L>W		No	TOPMed
COSM3816109	261	T>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1382765470	261	T>I		No	TOPMed gnomAD
COSM3501346	262	A>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1337770717	265	K>I		No	TOPMed gnomAD
rs1337770717	265	K>R		No	TOPMed gnomAD
rs1398191306	266	E>K		No	TOPMed gnomAD
rs1398191306	266	E>Q		No	TOPMed gnomAD
rs775556946	267	G>C		No	ExAC gnomAD
rs771991628	267	G>D		No	ExAC gnomAD
rs143887505	268	R>H		No	ESP ExAC TOPMed gnomAD
rs143887505	268	R>L		No	ESP ExAC TOPMed gnomAD
rs200054312	269	R>Q		No	ESP ExAC TOPMed gnomAD
rs773307468	269	R>W		No	ExAC TOPMed gnomAD
rs1254286891	270	A>S		No	gnomAD
rs1567139817	271	V>I		No	Ensembl
rs191658926	273	A>V		No	1000Genomes ExAC TOPMed gnomAD
TCGA novel	279	C>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1230510388	280	Q>R		No	gnomAD
rs755319945	281	E>G		No	ExAC gnomAD
rs1279302999	282	A>T		No	TOPMed gnomAD
rs1250604636	283	K>E		No	TOPMed
RCV002524643 RCV000413619 CA7518905 rs747313563	284	E>Q		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs780542374	285	D>G		No	ExAC gnomAD
rs758895551	287	K>R		No	ExAC TOPMed gnomAD
rs1426173252	288	S>G		No	gnomAD
rs753342743	288	S>N		No	ExAC gnomAD
rs777575882	289	H>R		No	ExAC TOPMed gnomAD
rs1025568625	293	V>D		No	TOPMed
rs1025568625	293	V>G		No	TOPMed
rs947395063	293	V>I		No	TOPMed gnomAD
rs1013757336	295	Q>K		No	TOPMed gnomAD
rs913205469	296	H>R		No	TOPMed gnomAD
rs1670162250	296	H>Y		No	Ensembl
rs1167937247	299	H>R		No	gnomAD
COSM3690403	302	V>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1280325469	304	H>Q		No	TOPMed gnomAD
rs759455243	306	E>D		No	ExAC gnomAD
rs1338190488	307	I>T		No	gnomAD
rs751496698	308	M>V		No	ExAC gnomAD
rs1475392062	309	A>T		No	gnomAD
rs766168695	310	H>Y		No	ExAC TOPMed gnomAD
rs2141337418	311	Q>*		No	1000Genomes
TCGA novel	312	K>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	313	F>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs761882298	315	L>F		No	ExAC TOPMed gnomAD
rs1190528436	316	R>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs2033660442	317	L>H		No	TOPMed
COSM3887000	319	S>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1453129666	322	N>D		No	gnomAD
rs375802608	324	I>T		No	ESP ExAC TOPMed gnomAD
COSM961879	324	I>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs374589988	325	M>I		No	ESP ExAC TOPMed gnomAD
rs1319547822	325	M>L		No	Ensembl
rs2033660247	325	M>T		No	Ensembl
rs1283912799	326	S>N		No	TOPMed gnomAD
rs1446472380	326	S>R		No	TOPMed gnomAD
rs572477955	329	S>G		No	1000Genomes ExAC TOPMed gnomAD
rs2033653093	329	S>R		No	TOPMed gnomAD
rs368606031	331	F>L		No	ESP ExAC TOPMed gnomAD
rs759951032	331	F>L		No	ExAC TOPMed gnomAD
rs771591555	332	R>K		No	ExAC gnomAD
rs1350052903	333	Q>H		No	gnomAD
TCGA novel	334	I>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs2033652816	336	C>G		No	Ensembl
TCGA novel	338	A>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs749794424	339	C>R		No	ExAC TOPMed gnomAD
rs2033652751	339	C>Y		No	Ensembl
rs2033652682	342	E>D		No	TOPMed gnomAD
rs549414094	342	E>K		No	1000Genomes ExAC gnomAD
rs1344105235	343	E>G		No	TOPMed
rs769412017	344	P>S		No	ExAC gnomAD
rs2033652438	345	D>E		No	Ensembl
rs747551403	345	D>N		No	ExAC TOPMed gnomAD
rs201544896	346	S>L		No	1000Genomes ExAC TOPMed gnomAD
rs775293222	347	E>K		No	ExAC gnomAD
rs1183889649	348	N>D		No	gnomAD
rs374557254	349	P>H		No	ESP ExAC TOPMed gnomAD
rs764216862	352	I>L		No	ExAC gnomAD
rs764216862	352	I>V		No	ExAC gnomAD
rs142798632 RCV001959899	355	L>F		No	ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs2033651977	356	M>T		No	TOPMed gnomAD
TCGA novel	358	W>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1283595232	360	A>S		No	TOPMed
rs759631135	360	A>V		No	ExAC gnomAD
rs2033651800	361	K>R		No	TOPMed
rs1329611189	362	L>F		No	gnomAD
rs548089634	363	Y>*		No	1000Genomes
rs774831690	363	Y>C		No	ExAC gnomAD
COSM3501345	363	Y>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1230452785	365	G>S		No	gnomAD
rs755272230 COSM141450	367	R>C	upper_aerodigestive_tract [Cosmic]	No	cosmic curated ExAC gnomAD
rs985079300	367	R>H		No	TOPMed gnomAD
rs985079300	367	R>L		No	TOPMed gnomAD
rs766647532	368	K>R		No	ExAC TOPMed gnomAD
rs1355677867	370	L>F		No	TOPMed
rs1355677867	370	L>I		No	TOPMed
rs2141336083	370	L>P		No	Ensembl
rs2033643546	373	L>F		No	TOPMed
rs763411888	376	S>T		No	ExAC gnomAD
COSM2187873	379	F>L	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2033643492	380	M>I		No	TOPMed
rs930861312	380	M>V		No	TOPMed gnomAD
TCGA novel	380	M>Y	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1017645736	382	M>I		No	Ensembl
RCV001870536 rs1275090232	382	M>V		No	ClinVar TOPMed dbSNP gnomAD
rs2033643419	384	Y>C		No	TOPMed
TCGA novel	386	K>N	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1449976909	387	L>F		No	gnomAD
rs765865717	388	F>L		No	ExAC gnomAD
rs773668093	388	F>V		No	ExAC gnomAD
rs200801495	389	A>P		No	TOPMed gnomAD
rs200801495	389	A>S		No	TOPMed gnomAD
rs200801495 RCV002047736	389	A>T		No	ClinVar TOPMed dbSNP gnomAD
rs952000855	390	M>L		No	TOPMed gnomAD
rs2033643101	390	M>T		No	TOPMed
rs952000855	390	M>V		No	TOPMed gnomAD
rs1258310183	392	F>S		No	Ensembl
rs570440171	393	V>L		No	1000Genomes ExAC TOPMed gnomAD
rs570440171 RCV002028905	393	V>M		No	ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs768046369	394	K>E		No	ExAC TOPMed gnomAD
rs760109232	395	Y>C		No	ExAC gnomAD
rs764604121	395	Y>H		No	ExAC gnomAD
rs2033620520	396	Y>*		No	Ensembl
rs2033620480	398	Q>*		No	Ensembl
COSM3816108	402	E>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs771737067	403	Y>C		No	ExAC gnomAD
TCGA novel	407	D>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	408	H>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs770631803	408	H>Y		No	ExAC gnomAD
rs2033620193	409	D>G		No	Ensembl
rs371156658	410	R>*		No	ESP ExAC TOPMed gnomAD
COSM3370171	410	R>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs942523230	411	S>G		No	gnomAD
rs2033620040	411	S>N		No	gnomAD
rs777572724	412	I>V		No	ExAC gnomAD
rs2033619959	415	T>I		No	TOPMed
rs1404676554	416	A>V		No	TOPMed gnomAD
rs756388965 COSM3936758	418	S>*	oesophagus [Cosmic]	No	cosmic curated Ensembl
rs756388965	418	S>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	Ensembl NCI-TCGA
COSM6077119	419	V>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs786205492	420	Q>E		No	TOPMed
RCV000171234 CA235927 rs786205492	420	Q>K		No	ClinGen ClinVar TOPMed dbSNP
rs1391393903	421	M>T		No	gnomAD
rs1228851998	421	M>V		No	TOPMed gnomAD
rs2141334402	423	T>I		No	Ensembl
rs1012412925	423	T>P		No	TOPMed gnomAD
rs1164739631	424	V>I		No	gnomAD
rs1164739631	424	V>L		No	gnomAD
rs769727145	425	P>R		No	ExAC gnomAD
TCGA novel	426	T>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs895175651	427	L>M		No	TOPMed gnomAD
rs1162709779	429	R>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	Ensembl NCI-TCGA
rs145247056	429	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ESP ExAC NCI-TCGA TOPMed gnomAD
RCV002009275 rs930246370	430	H>Y		No	ClinVar TOPMed dbSNP gnomAD
rs1414492122	432	I>F		No	gnomAD
CA16042870 RCV000414257 rs1057518231	432	I>T		No	ClinGen ClinVar TOPMed dbSNP
rs1477740286	435	Q>*		No	gnomAD
rs2033597900	438	I>L		No	TOPMed
rs770563187	438	I>T		No	ExAC gnomAD
rs2033597900	438	I>V		No	TOPMed
rs2033597753	441	I>V		No	TOPMed
rs918826999	442	T>I		No	Ensembl
rs925511677	446	L>R		No	TOPMed
TCGA novel	447	E>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
COSM433888	451	E>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1298465458	451	E>G		No	TOPMed
rs1209775298	452	Y>C		No	gnomAD
rs1567138168	453	L>F		No	Ensembl
rs775777743	454	D>H		No	ExAC gnomAD
rs772264230	455	R>G		No	ExAC gnomAD
RCV000500201 rs1555448026 CA392072293	457	N>S		No	ClinGen ClinVar Ensembl dbSNP
rs1318570816	458	K>R		No	TOPMed gnomAD
COSM961877	458	K>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs779007025	460	N>I		No	ExAC TOPMed gnomAD
rs779007025	460	N>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs779007025	460	N>T		No	ExAC TOPMed gnomAD
rs2033596870	462	Q>*		No	TOPMed gnomAD
TCGA novel	462	Q>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs757462259	462	Q>R		No	ExAC gnomAD
rs749638136	463	G>D		No	ExAC gnomAD
rs1364432490	463	G>S		No	gnomAD
rs778167157	466	Q>H		No	ExAC TOPMed gnomAD
rs756660723	467	D>E		No	ExAC TOPMed gnomAD
rs146690613	469	L>V		No	ESP ExAC TOPMed gnomAD
rs767077535	472	V>A		No	ExAC gnomAD
rs955425996	477	C>R		No	gnomAD
rs144700609	478	D>E		No	ESP ExAC TOPMed gnomAD
rs374446394	480	K>M		No	ESP ExAC TOPMed gnomAD
rs751074083	481	Y>C		No	ExAC gnomAD
rs751074083	481	Y>F		No	ExAC gnomAD
rs1482447945	481	Y>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
rs1207178464	484	I>M		No	TOPMed gnomAD
rs1178618446	485	S>G		No	TOPMed gnomAD
rs1319910016	485	S>R		No	gnomAD
rs2033512963	485	S>T		No	TOPMed
rs2033512840	492	E>G		No	TOPMed
rs765893686	493	R>I		No	ExAC gnomAD
rs375204571	495	R>S		No	ESP ExAC TOPMed gnomAD
rs2033512610	496	M>T		No	Ensembl
rs764918267	499	L>R		No	ExAC TOPMed gnomAD
rs1393339623	501	G>S		No	gnomAD
rs1432144030	502	F>C		No	gnomAD
COSM2187863 rs764158113	503	R>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
rs774341055	503	R>L		No	ExAC TOPMed gnomAD
rs774341055	503	R>P		No	ExAC TOPMed gnomAD
rs774341055 COSM170963 RCV002037477	503	R>Q	Variant assessed as Somatic; MODERATE impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs771027157	507	K>R		No	ExAC gnomAD
rs1415432663	510	T>A		No	gnomAD
rs763148886	510	T>N		No	ExAC TOPMed gnomAD
rs2033511992	512	M>I		No	TOPMed
rs2033497768	515	M>I		No	TOPMed
rs375176883	515	M>V		No	ESP ExAC TOPMed gnomAD
rs2033497671	518	I>T		No	TOPMed
COSM416930	519	R>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM169612 rs777041521	519	R>L	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs777041521	519	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs1290254967	522	V>A		No	TOPMed gnomAD
rs769063596	526	I>M		No	ExAC TOPMed gnomAD
rs991855606	527	E>D		No	TOPMed
rs2033497350	529	D>Y		No	TOPMed
COSM3501344 rs2033497309	530	P>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic TOPMed
rs1376546121	536	I>N		No	TOPMed gnomAD
rs1176217050	538	I>M		No	gnomAD
rs1363218239	538	I>T		No	TOPMed gnomAD
rs2141326351	540	M>I		No	Ensembl
rs747271855	540	M>K		No	ExAC gnomAD
rs1455493956	540	M>V		No	gnomAD
rs2141326340	543	K>M		No	1000Genomes
TCGA novel	543	K>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs780625695	544	N>K		No	ExAC gnomAD
rs970426443	545	I>S		No	Ensembl
rs1249718415 COSM961876	546	L>*	Variant assessed as Somatic; HIGH impact. endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated gnomAD
rs1249718415	546	L>S		No	gnomAD
rs1207112559	547	L>P		No	gnomAD
rs1316232668	548	M>I		No	TOPMed
COSM5888268	550	Q>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2033496606	552	W>R		No	Ensembl
rs1025896477	554	A>V		No	Ensembl
rs772411595	555	C>R		No	ExAC TOPMed gnomAD
rs560253904	556	D>E		No	1000Genomes ExAC gnomAD
rs2033443763	557	E>K		No	Ensembl
rs1567135068	559	L>F		No	Ensembl
TCGA novel	560	L>T	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs2033443686	560	L>V		No	Ensembl
rs977997178	561	L>I		No	TOPMed
rs2033443586	562	V>L		No	TOPMed
rs1384495182	563	A>S		No	TOPMed
rs748002347	565	K>E		No	ExAC TOPMed gnomAD
rs1420060057	566	E>D		No	gnomAD
TCGA novel rs2033443204	569	K>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Ensembl
rs2033443065	573	R>S		No	TOPMed
rs1306913065	573	R>T		No	TOPMed gnomAD
rs780831630	574	C>Y		No	ExAC gnomAD
rs2141322887	575	S>G		No	Ensembl
rs1398589711	575	S>N		No	TOPMed gnomAD
rs1398589711	575	S>T		No	TOPMed gnomAD
rs140662099	577	S>G		No	ESP ExAC TOPMed gnomAD
rs1368900931	578	F>S		No	gnomAD
rs2033442763	579	I>M		No	gnomAD
rs1188920595	580	S>A		No	TOPMed gnomAD
rs1188920595	580	S>P		No	TOPMed gnomAD
rs568824492	581	S>R		No	ExAC TOPMed gnomAD
rs757344571	582	S>N		No	ExAC TOPMed gnomAD
rs954696582	582	S>R		No	Ensembl
rs998817919	583	K>E		No	TOPMed gnomAD
rs753867982	584	T>I		No	ExAC gnomAD
rs753867982	584	T>R		No	ExAC gnomAD
rs953401345	585	V>A		No	TOPMed gnomAD
rs987679003	585	V>I		No	TOPMed gnomAD
rs987679003	585	V>L		No	TOPMed gnomAD
rs1356070205	588	S>L		No	TOPMed gnomAD
rs775971046	591	H>R		No	ExAC TOPMed gnomAD
COSM1372965	593	L>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs148797320	595	T>I		No	ESP TOPMed
rs148797320	595	T>R		No	ESP TOPMed
VAR_034467 RCV000960793 rs34568456	596	K>M		No	ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs34568456	596	K>R		No	1000Genomes ESP ExAC TOPMed gnomAD
rs2033441929	597	S>Y		No	Ensembl
rs2033441837	600	V>I		No	TOPMed
rs1337405557	601	S>P		No	gnomAD
RCV001867676 rs747081057	604	L>I		No	ClinVar TOPMed dbSNP gnomAD
rs2033441568	605	V>A		No	TOPMed gnomAD
rs2033441607	605	V>I		No	TOPMed
rs771505561	606	S>N		No	ExAC
rs894276290	607	I>M		No	gnomAD
COSM5383341	610	P>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2033441181	616	A>V		No	TOPMed
TCGA novel	617	G>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs764259098	617	G>V		No	Ensembl
rs752857150	619	H>P		No	ExAC TOPMed gnomAD
rs752857150	619	H>R		No	ExAC TOPMed gnomAD
TCGA novel	620	V>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1396219082	620	V>G		No	gnomAD
rs767710329	621	R>C		No	ExAC TOPMed gnomAD
rs759990188	621	R>H		No	ExAC TOPMed gnomAD
rs767020641	624	R>G		No	ExAC gnomAD
rs2033362652	626	G>A		No	TOPMed gnomAD
rs1275835930	627	A>G		No	TOPMed gnomAD
rs375687713	629	S>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	ESP NCI-TCGA TOPMed
rs375687713	629	S>L		No	ESP TOPMed
rs1199421175	630	R>T		No	TOPMed gnomAD
rs573944269	632	H>Q		No	1000Genomes ExAC TOPMed gnomAD
rs769186907	632	H>R		No	ExAC TOPMed gnomAD
rs917772057	636	S>T		No	Ensembl
rs200515587	637	F>L		No	ESP ExAC TOPMed gnomAD
rs1431721911	637	F>S		No	gnomAD
rs768249377	637	F>V		No	ExAC gnomAD
rs1188339117	639	D>G		No	gnomAD
rs2033357842	639	D>N		No	TOPMed
rs761253544	640	F>L		No	ExAC gnomAD
rs776169122	640	F>L		No	ExAC TOPMed gnomAD
TCGA novel	641	Q>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs530442432	642	V>A		No	1000Genomes ExAC gnomAD
TCGA novel	642	V>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1052567492	643	E>G		No	Ensembl
TCGA novel	644	V>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs374574697	646	V>A		No	ESP ExAC TOPMed gnomAD
rs2033357449	646	V>M		No	TOPMed
TCGA novel	647	E>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1482663363	648	Y>C		No	gnomAD
rs1786398861	649	P>S		No	Ensembl
rs1233388497	650	L>V		No	gnomAD
COSM5849200 rs1313170537	651	R>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD
rs1358896992	652	C>Y		No	TOPMed
rs1206613222	655	L>V		No	gnomAD
rs1480711371	656	V>L		No	gnomAD
rs2033356972	658	Q>*		No	TOPMed gnomAD
rs2033356972	658	Q>E		No	TOPMed gnomAD
rs762423462	659	V>I		No	TOPMed gnomAD
rs1232881132	660	V>I		No	gnomAD
rs1335754750	663	M>I		No	gnomAD
rs2033356814	663	M>L		No	Ensembl
rs778728550	664	W>*		No	ExAC gnomAD
COSM1240599 rs1292700460	665	R>*	oesophagus [Cosmic]	No	cosmic curated TOPMed gnomAD
rs1315598396	665	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs1370426381	666	R>K		No	Ensembl
rs1408086291	668	G>V		No	gnomAD
COSM4853808	671	L>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM961875	673	S>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1465075993	673	S>N		No	TOPMed gnomAD
rs770849248	673	S>R		No	ExAC gnomAD
rs2033338660	675	V>G		No	TOPMed
rs1181201299	675	V>M		No	TOPMed gnomAD
rs1193968504	677	Y>H		No	gnomAD
rs749223205	678	Y>H		No	ExAC gnomAD
rs2033338489	679	Q>*		No	gnomAD
TCGA novel	679	Q>P	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs377090547	680	D>A		No	ESP ExAC TOPMed
rs377090547	680	D>V		No	ESP ExAC TOPMed
TCGA novel	680	D>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1171074016	683	C>R		No	TOPMed gnomAD
rs2141316869	683	C>Y		No	Ensembl
rs2141316864	684	R>G		No	Ensembl
TCGA novel	685	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs758608456	687	M>V		No	ExAC TOPMed gnomAD
rs746259965	688	Y>C		No	ExAC gnomAD
COSM961874	691	D>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1235759223	692	I>T		No	gnomAD
rs559405167	692	I>V		No	1000Genomes ExAC gnomAD
rs1415129792	694	M>I		No	TOPMed gnomAD
COSM961873	695	L>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM6142138	696	Q>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2033333925	697	I>M		No	TOPMed
rs1167039129	698	G>A		No	gnomAD
rs1462316636	699	A>T		No	gnomAD
rs1172765012	702	M>T		No	gnomAD
TCGA novel	703	D>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs145364227	705	N>S		No	ESP ExAC TOPMed gnomAD
TCGA novel	706	K>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	706	K>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1256837340	707	F>L		No	gnomAD
rs2033333608	708	L>S		No	TOPMed
rs900434077	712	L>P		No	Ensembl
rs2033333435	714	R>G		No	Ensembl
rs2141316597	715	Y>F		No	Ensembl
rs1250271053	716	E>K		No	gnomAD
rs1020057044	716	E>V		No	TOPMed
rs144190668	718	A>D		No	1000Genomes ExAC TOPMed gnomAD
rs144190668	718	A>V		No	1000Genomes ExAC TOPMed gnomAD
rs1242129337	719	E>D		No	gnomAD
rs1253488499	719	E>K		No	TOPMed gnomAD
rs2033333117	720	A>V		No	Ensembl
rs2033333016	722	N>K		No	Ensembl
rs2033332967	723	K>N		No	gnomAD
rs749595417	724	T>I		No	ExAC TOPMed gnomAD
rs756572767	725	I>M		No	ExAC gnomAD
rs778274546	725	I>V		No	ExAC TOPMed gnomAD
rs147478213	727	T>A		No	1000Genomes ESP ExAC TOPMed gnomAD
rs2033332669	728	K>I		No	Ensembl
rs1391960991	730	Q>R		No	gnomAD
rs2033271252	732	L>V		No	gnomAD
rs778076371	733	I>S		No	ExAC gnomAD
rs1328285200	736	Y>C		No	TOPMed gnomAD
rs1470773522	736	Y>H		No	gnomAD
rs1192079463	737	N>S		No	gnomAD
rs1454096368	738	T>A		No	TOPMed gnomAD
rs2033270902	738	T>I		No	TOPMed
rs574978570	739	L>I		No	1000Genomes ExAC TOPMed gnomAD
rs1284151275	743	M>I		No	TOPMed
rs2033270571	746	V>D		No	TOPMed gnomAD
rs200810218	746	V>I		No	1000Genomes ExAC TOPMed gnomAD
rs1352680036	747	L>F		No	gnomAD
rs2033270436	748	I>M		No	gnomAD
rs750293170	749	Y>C		No	ExAC TOPMed gnomAD
rs750293170	749	Y>F		No	ExAC TOPMed gnomAD
rs1371425274	751	V>M		No	gnomAD
rs2033234492	753	E>A		No	Ensembl
rs1337625465	755	Y>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs2068241882	756	V>I		No	Ensembl
rs900552063	758	G>R		No	TOPMed gnomAD
rs111232529	761	N>H		No	Ensembl
TCGA novel	765	E>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	767	V>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs753525736	767	V>I		No	ExAC gnomAD
rs200146543	768	T>P		No	1000Genomes ExAC TOPMed gnomAD
TCGA novel	769	M>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1276984540	769	M>V		No	TOPMed
rs2033233693	771	E>D		No	TOPMed gnomAD
rs369213575	772	I>T		No	ESP ExAC TOPMed gnomAD
RCV001998695 rs2141310474	772	I>V		No	ClinVar Ensembl dbSNP
rs2033233542	773	I>M		No	TOPMed gnomAD
rs763224715	778	I>T		No	ExAC TOPMed gnomAD
rs766428995	778	I>V		No	ExAC gnomAD
rs375913511 COSM470663	782	P>S	kidney Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	NCI-TCGA Cosmic cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs372946259	785	A>D		No	ESP TOPMed gnomAD
rs765397426	786	I>T		No	ExAC TOPMed gnomAD
rs1186638304	787	A>S		No	gnomAD
rs1186638304	787	A>T		No	gnomAD
TCGA novel	789	N>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
COSM1231608 rs2033233054	790	L>V	large_intestine [Cosmic]	No	cosmic curated Ensembl
rs1372873747	791	P>T		No	TOPMed gnomAD
rs762272441	793	N>H		No	ExAC TOPMed gnomAD
rs1259541929	793	N>T		No	gnomAD
TCGA novel	795	N>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1419473393	796	N>H		No	TOPMed gnomAD
rs2033197111	796	N>T		No	TOPMed
rs2033197079	799	G>V		No	Ensembl
rs141762554	801	E>D		No	ESP ExAC
RCV001955320 rs374815480	802	N>S		No	ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs2033197000	802	N>Y		No	Ensembl
rs1567130321	804	I>V		No	Ensembl
TCGA novel	805	N>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs756130552	805	N>K		No	ExAC gnomAD
rs752569032	806	K>E		No	ExAC gnomAD
rs750555692	815	V>I		No	ExAC TOPMed gnomAD
rs778954996	816	S>*		No	ExAC gnomAD
rs778954996	816	S>L		No	ExAC gnomAD
rs1050248132	817	G>S		No	TOPMed
rs866504949	819	G>E		No	Ensembl
rs547441773	820	V>I		No	1000Genomes
rs1286553773	822	E>D		No	gnomAD
rs1452416487	823	L>V		No	gnomAD
rs2033181365	825	D>N		No	TOPMed
rs1160352539	827	S>L		No	TOPMed gnomAD
rs757567255	829	K>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA gnomAD
COSM961871 rs2033181155	830	D>Y	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated Ensembl
rs2033181109	831	F>*		No	Ensembl
rs980100953	831	F>V		No	Ensembl
rs764320343	832	N>D		No	ExAC gnomAD
rs866636571	833	M>I		No	1000Genomes gnomAD
rs2033180924	833	M>T		No	TOPMed
rs760971096	833	M>V		No	ExAC gnomAD
rs2033180785	837	H>R		No	TOPMed gnomAD
rs2033180816	837	H>Y		No	TOPMed
rs1249484505	839	S>P		No	TOPMed
rs1436164639	842	Q>R		No	gnomAD
rs1485579827	843	H>R		No	gnomAD
rs2033180597	844	S>N		No	Ensembl
COSM3501342	845	K>=	Variant assessed as Somatic; LOW impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1168558964	847	E>K		No	gnomAD
rs757299423	848	H>R		No	ExAC gnomAD
rs1195972068	849	M>L		No	TOPMed gnomAD
rs1375695034	849	M>T		No	TOPMed
rs1195972068	849	M>V		No	TOPMed gnomAD
TCGA novel	850	Q>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1257419086	851	K>N		No	gnomAD
rs777887212	854	R>K		No	ExAC gnomAD
rs756328358	856	Q>K		No	ExAC gnomAD
COSM2153434	857	E>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs753161247	857	E>K		No	ExAC gnomAD
COSM470662 rs767980027	858	N>K	kidney Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	cosmic curated ExAC gnomAD NCI-TCGA Cosmic
rs111240413	859	K>T		No	Ensembl
rs2141305888	860	D>H		No	Ensembl
rs756461131	862	A>V		No	ExAC gnomAD
rs1339644826	863	L>F		No	TOPMed gnomAD
rs781493412	864	P>L		No	ExAC TOPMed gnomAD
rs781493412	864	P>Q		No	ExAC TOPMed gnomAD
rs2033160723	864	P>S		No	TOPMed
rs2033160637	865	P>L		No	TOPMed
rs2033160553	866	P>S		No	gnomAD
rs561769201	867	P>S		No	1000Genomes TOPMed gnomAD
rs758919702	868	P>L		No	ExAC TOPMed gnomAD
rs766823644	868	P>S		No	ExAC gnomAD
rs1181797056	870	E>K		No	gnomAD
rs749961748	872	C>S		No	ExAC gnomAD
rs1411186375	873	P>A		No	TOPMed
rs1016115192	874	A>V		No	Ensembl
rs764803016	875	F>L		No	ExAC gnomAD
rs1000752634 RCV002020083	877	K>E		No	ClinVar TOPMed dbSNP gnomAD
rs1000752634	877	K>Q		No	TOPMed gnomAD
rs1351071443	879	I>V		No	TOPMed
rs1348382128	880	N>S		No	gnomAD
rs1417283661	881	L>V		No	TOPMed gnomAD
rs763689059	883	N>S		No	ExAC gnomAD
rs1301011110	886	I>T		No	TOPMed gnomAD
rs775322814	887	M>L		No	ExAC TOPMed gnomAD
rs2033159487	887	M>T		No	TOPMed
rs1324225323	888	M>I		No	TOPMed gnomAD
rs542518072	890	I>V		No	1000Genomes ExAC TOPMed gnomAD
rs2033159327	893	T>A		No	TOPMed gnomAD
RCV001820735 RCV003718441 rs199513326	893	T>I		No	ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs2033159327	893	T>P		No	TOPMed gnomAD
rs141507311	894	V>A		No	ESP TOPMed gnomAD
rs375804838	894	V>I		No	ESP ExAC TOPMed gnomAD
rs769994336	896	E>K		No	ExAC TOPMed gnomAD
rs748177653	896	E>V		No	ExAC TOPMed gnomAD
rs2033159056	897	R>Q		No	TOPMed gnomAD
COSM1493442 rs781583486	897	R>W	kidney [Cosmic]	No	cosmic curated ExAC gnomAD
rs2033158919	899	I>T		No	Ensembl
rs780456002	900	D>G		No	ExAC TOPMed gnomAD
rs546372560	900	D>N		No	1000Genomes ExAC TOPMed gnomAD
TCGA novel	900	D>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs2033158797	901	T>A		No	TOPMed
rs996967856	901	T>I		No	TOPMed
rs898785197	903	S>A		No	TOPMed gnomAD
rs758898370	904	N>D		No	ExAC gnomAD
rs750948370	905	L>W		No	ExAC gnomAD
TCGA novel	906	W>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs2033158652	906	W>G		No	Ensembl
rs765675717	907	T>A		No	ExAC
rs2033158510 COSM961870	908	E>K	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated Ensembl
rs370452802	909	G>E		No	ESP ExAC TOPMed gnomAD
rs2054417593	909	G>R		No	TOPMed
rs763778855	910	M>V		No	ExAC gnomAD
rs1438922220	913	M>V		No	TOPMed gnomAD
rs746170520	914	A>V		No	ExAC gnomAD
rs1342513053	917	I>M		No	gnomAD
rs1414768981	926	K>E		No	gnomAD
rs1360062702	927	Q>*		No	TOPMed gnomAD
rs1360062702	927	Q>E		No	TOPMed gnomAD
rs2033126996	929	L>F		No	TOPMed gnomAD
rs113857535	929	L>P		No	gnomAD
rs899677587	931	K>Q		No	TOPMed
rs757731505	931	K>T		No	ExAC TOPMed gnomAD
rs753392602	932	A>P		No	ExAC TOPMed gnomAD
rs777250042	933	P>A		No	ExAC gnomAD
rs1596106053	934	E>K		No	TOPMed
COSM700542 rs1415080831	938	T>A	lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD
rs755788395	938	T>I		No	ExAC gnomAD
rs2141303554	940	D>N		No	Ensembl
rs149061186	941	F>L		No	1000Genomes ESP ExAC TOPMed gnomAD
rs767015627	943	H>R		No	ExAC gnomAD
COSM3501340	943	H>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2033126243	944	K>E		No	TOPMed gnomAD
rs759393697	945	A>T		No	ExAC TOPMed gnomAD
rs1283304268	945	A>V		No	gnomAD
rs2033126120	947	R>*		No	TOPMed
rs2033126120	947	R>G		No	TOPMed
rs767831257	947	R>S		No	ExAC gnomAD
rs915536049	948	L>M		No	TOPMed gnomAD
rs989734306	948	L>S		No	Ensembl
rs759738235	949	G>R		No	ExAC gnomAD
rs929403892	950	S>R		No	TOPMed gnomAD
rs774761748	951	S>L		No	ExAC gnomAD
rs1292376078	952	A>T		No	gnomAD
rs959859810 COSM270496	952	A>V	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated Ensembl NCI-TCGA
rs773730651	953	M>I		No	ExAC TOPMed gnomAD
rs749593414	953	M>T		No	ExAC TOPMed gnomAD
rs926829623	953	M>V		No	TOPMed gnomAD
rs1411334425	954	N>S		No	TOPMed
rs770159784	955	I>K		No	ExAC gnomAD
rs1400095500	956	Q>*		No	TOPMed gnomAD
rs1400095500	956	Q>E		No	TOPMed gnomAD
rs1380638654	957	M>I		No	gnomAD
rs2033108218	960	E>K		No	Ensembl
rs755013298	962	L>H		No	Ensembl
rs747733828	963	K>R		No	ExAC TOPMed gnomAD
rs747733828	963	K>T		No	ExAC TOPMed gnomAD
rs780543525	964	G>R		No	ExAC gnomAD
rs145788329	969	E>A		No	ESP ExAC TOPMed gnomAD
rs145788329	969	E>G		No	ESP ExAC TOPMed gnomAD
rs938503004	970	G>V		No	TOPMed gnomAD
rs1287101894	975	I>K		No	TOPMed gnomAD
rs1287101894	975	I>T		No	TOPMed gnomAD
rs750207413	976	T>M		No	ExAC TOPMed gnomAD
rs752882409	977	W>*		No	ExAC gnomAD
rs28678764	977	W>G		No	Ensembl
rs767487834	979	L>F		No	ExAC TOPMed gnomAD
rs759541918	979	L>R		No	ExAC TOPMed gnomAD
rs767487834	979	L>V		No	ExAC TOPMed gnomAD
rs2033107296	980	Q>*		No	TOPMed
rs2033107296	980	Q>K		No	TOPMed
rs2033037243	981	M>T		No	TOPMed
rs1382433807	983	D>H		No	TOPMed gnomAD
rs777027545	984	T>K		No	ExAC TOPMed gnomAD
rs769246548	985	V>L		No	ExAC TOPMed gnomAD
rs769246548	985	V>M		No	ExAC TOPMed gnomAD
rs112041571	986	K>R		No	Ensembl
rs1249254589	987	R>*		No	gnomAD
rs760305347	987	R>Q		No	ExAC TOPMed gnomAD
rs2033036808	989	R>G		No	Ensembl
rs2033036772	991	K>R		No	TOPMed gnomAD
rs775121179	993	C>R		No	ExAC gnomAD
rs771910755	994	L>F		No	ExAC
rs778559456	996	V>I		No	ExAC gnomAD
rs778559456	996	V>L		No	ExAC gnomAD
rs770642267	997	A>V		No	ExAC gnomAD
rs1339813285	998	T>N		No	gnomAD
rs2141298487	999	T>I		No	Ensembl
rs756014691	1002	S>L		No	ExAC TOPMed gnomAD
rs1465347996	1004	S>P		No	gnomAD
rs2033036116	1005	I>V		No	Ensembl
rs148993210	1007	N>K		No	1000Genomes ESP ExAC TOPMed gnomAD
rs376036774	1007	N>S		No	ESP TOPMed gnomAD
rs1456787822	1008	D>V		No	gnomAD
rs777521212	1011	T>S		No	ExAC TOPMed gnomAD
rs1239608034	1012	H>R		No	gnomAD
rs2033016441	1012	H>Y		No	gnomAD
TCGA novel	1013	D>E	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs79459762	1014	K>N		No	TOPMed
COSM961869	1015	E>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1450509467	1015	E>D		No	gnomAD
rs769779282	1015	E>Q		No	ExAC gnomAD
rs748070576	1017	A>S		No	ExAC gnomAD
rs748070576	1017	A>T		No	ExAC gnomAD
rs267604210	1019	R>G		No	TOPMed gnomAD
rs1487286460	1019	R>Q		No	TOPMed gnomAD
rs200354286	1021	R>G		No	1000Genomes
rs2033015587	1023	A>P		No	TOPMed
rs922768419	1025	A>S		No	Ensembl
rs758431812	1025	A>V		No	ExAC gnomAD
rs2033015412	1026	A>P		No	gnomAD
rs779045429	1027	R>S		No	ExAC gnomAD
rs754217712	1029	H>Y		No	ExAC TOPMed gnomAD
rs1330542956 COSM1708065	1030	R>C	skin [Cosmic]	No	cosmic curated TOPMed gnomAD
rs764552375	1030	R>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs181657162	1032	K>Q		No	1000Genomes ExAC TOPMed gnomAD
COSM4054764	1032	K>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs966854415	1034	M>L		No	TOPMed
rs966854415	1034	M>V		No	TOPMed
rs2033014908	1036	Q>H		No	TOPMed
rs1322385972	1036	Q>R		No	TOPMed gnomAD
rs1022801695	1037	M>I		No	Ensembl
rs1298185944	1039	A>T		No	gnomAD
rs1478286465	1043	N>I		No	TOPMed gnomAD
TCGA novel	1044	F>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1010932062	1045	I>M		No	Ensembl
rs545826909	1045	I>T		No	1000Genomes TOPMed gnomAD
rs1477505340	1047	T>I		No	gnomAD
rs758995090	1048	H>Y		No	ExAC gnomAD
rs1200377569	1049	K>I		No	TOPMed gnomAD
TCGA novel	1050	L>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs373336900	1051	M>L		No	1000Genomes ESP TOPMed gnomAD
rs1596102688	1051	M>T		No	Ensembl
rs373336900	1051	M>V		No	1000Genomes ESP TOPMed gnomAD
COSM6142139	1052	Y>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1252787304	1053	D>E		No	TOPMed gnomAD
rs1262380829	1053	D>H		No	gnomAD
rs2033013754	1055	T>I		No	TOPMed
COSM1301138	1056	S>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2033013541	1057	E>D		No	TOPMed
rs1276268836	1058	M>I		No	gnomAD
rs147741987	1058	M>T		No	ESP ExAC gnomAD
rs1198901772	1060	G>R		No	TOPMed gnomAD
rs773055777	1061	K>R		No	ExAC gnomAD
COSM961868	1062	E>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1235503054	1064	S>F		No	TOPMed gnomAD
rs1235503054	1064	S>Y		No	TOPMed gnomAD
rs776583103	1066	M>L		No	ExAC TOPMed gnomAD
RCV001819325 rs776583103	1066	M>V		No	ClinVar ExAC TOPMed dbSNP gnomAD
rs1278091838	1067	E>D		No	gnomAD
rs984068276	1068	E>K		No	TOPMed
rs1156621033	1071	T>N		No	gnomAD
rs770105611	1072	P>A		No	ExAC gnomAD
rs1476974247	1072	P>L		No	TOPMed
rs781606224	1073	A>E		No	ExAC gnomAD
rs755502795	1074	V>D		No	ExAC TOPMed gnomAD
rs2032847491	1074	V>I		No	TOPMed
rs2032847395	1075	S>I		No	gnomAD
rs141543407	1075	S>R		No	ESP ExAC TOPMed gnomAD
rs757935803	1077	Y>H		No	ExAC gnomAD
rs749905823	1078	S>A		No	ExAC TOPMed
rs2141289553	1078	S>C		No	Ensembl
COSM470660	1080	I>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1341572923	1081	A>V		No	gnomAD
rs905594006	1084	P>H		No	TOPMed
rs1294326600	1085	K>Q		No	gnomAD
rs774062223	1086	R>Q		No	TOPMed gnomAD
rs764919801	1086	R>W		No	ExAC TOPMed gnomAD
rs2032846378	1087	G>D		No	Ensembl
rs761442343	1089	S>P		No	ExAC gnomAD
rs2032846131	1090	V>I		No	TOPMed
rs753704364	1091	T>I		No	ExAC gnomAD
rs200690084	1094	E>A		No	1000Genomes ExAC gnomAD
rs775523272	1095	V>G		No	ExAC gnomAD
rs1044494026	1095	V>M		No	TOPMed gnomAD
rs895447796	1098	C>Y		No	Ensembl
rs773400142	1101	C>S		No	ExAC
rs1275821790	1104	E>missing	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs2032845163	1104	E>*		No	TOPMed gnomAD
rs2032845111	1104	E>G		No	TOPMed
COSM3987957 rs2032845163	1104	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic TOPMed gnomAD
rs2032844943	1105	Q>P		No	TOPMed
rs867111288	1107	V>L		No	Ensembl
rs1357498324	1108	K>E		No	gnomAD
rs368692976	1109	I>T		No	ESP ExAC TOPMed gnomAD
rs2032843459	1111	N>S		No	TOPMed gnomAD
rs1272008445	1112	N>D		No	TOPMed
rs1159425116	1112	N>K		No	gnomAD
rs781202228	1113	A>T		No	ExAC gnomAD
rs2141289474	1114	M>I		No	Ensembl
rs1423068595	1114	M>V		No	gnomAD
rs1190694356	1117	S>*		No	TOPMed gnomAD
rs1190694356 COSM3886999	1117	S>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic TOPMed gnomAD
rs1190694356	1117	S>W		No	TOPMed gnomAD
COSM3501338 rs1271672039	1118	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA gnomAD
TCGA novel	1118	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1215132259	1119	C>F		No	TOPMed gnomAD
rs1215132259	1119	C>Y		No	TOPMed gnomAD
rs1253300095	1120	V>I		No	TOPMed
rs780652360	1122	K>E		No	ExAC gnomAD
rs1032341842	1123	S>F		No	TOPMed
TCGA novel	1127	T>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs371256699	1128	Q>R		No	ESP ExAC TOPMed gnomAD
rs749993781	1129	H>R		No	ExAC gnomAD
rs1219292120	1131	G>E		No	gnomAD
rs778393287	1132	K>E		No	ExAC TOPMed gnomAD
TCGA novel	1132	K>N	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs377271561	1133	P>L		No	ESP ExAC TOPMed gnomAD
rs377271561	1133	P>R		No	ESP ExAC TOPMed gnomAD
rs756693535	1133	P>S		No	ExAC gnomAD
rs922034554	1134	I>R		No	gnomAD
rs922034554	1134	I>T		No	gnomAD
rs763608145	1134	I>V		No	ExAC TOPMed gnomAD
TCGA novel	1135	E>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs752401371	1136	L>F		No	ExAC gnomAD
rs1175699332	1137	S>L		No	gnomAD
rs1431607732	1138	G>R		No	gnomAD
rs1192072036	1138	G>V		No	gnomAD
rs1182077139	1139	E>A		No	gnomAD
rs1182077139	1139	E>G		No	gnomAD
rs777518378	1140	A>G		No	ExAC TOPMed gnomAD
rs777518378	1140	A>V		No	ExAC TOPMed gnomAD
rs2032763873	1141	L>P		No	TOPMed
rs752592051	1142	D>E		No	ExAC
rs2141286265	1143	P>L		No	Ensembl
rs767415187	1144	L>F		No	ExAC gnomAD
rs374595653	1146	M>K		No	ESP TOPMed gnomAD
RCV001999493 rs754753489	1146	M>L		No	ClinVar ExAC dbSNP gnomAD
rs754753489	1146	M>V		No	ExAC gnomAD
rs994453837	1149	D>H		No	gnomAD
rs766747277	1149	D>V		No	Ensembl
rs144681428	1150	L>F		No	ESP TOPMed
rs2032763333	1154	T>A		No	Ensembl
rs2032763286	1155	Y>F		No	TOPMed
rs1422405222 COSM1372963	1156	T>I	large_intestine [Cosmic]	No	cosmic curated gnomAD
rs761994943	1158	S>N		No	ExAC gnomAD
rs2032763097	1160	G>V		No	TOPMed
TCGA novel	1161	H>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs912375537	1163	M>T		No	TOPMed gnomAD
rs34803922 RCV001193918	1164	H>Q		No	ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs368770602	1165	A>S		No	ESP ExAC TOPMed gnomAD
rs368770602	1165	A>T		No	ESP ExAC TOPMed gnomAD
rs772442007 COSM961867	1166	V>M	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD
TCGA novel rs2032762649	1168	W>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA TOPMed
TCGA novel	1168	W>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs2032762595	1169	Q>H		No	Ensembl
rs1428221545	1176	Q>E		No	TOPMed gnomAD
rs1428221545	1176	Q>K		No	TOPMed gnomAD
rs373216782	1176	Q>L		No	ESP ExAC TOPMed gnomAD
rs373216782	1176	Q>P		No	ESP ExAC TOPMed gnomAD
rs373216782	1176	Q>R		No	ESP ExAC TOPMed gnomAD
rs149935389	1177	L>Q		No	ESP ExAC TOPMed gnomAD
rs760753358	1178	S>N		No	ExAC gnomAD
rs1021094121	1178	S>R		No	Ensembl
rs775714699	1179	S>A		No	ExAC gnomAD
rs752737853	1179	S>F		No	Ensembl
TCGA novel rs2032744227	1180	Q>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Ensembl
rs1169717202	1181	Q>R		No	gnomAD
rs2032744125	1182	R>C		No	TOPMed
COSM961866 rs139161796	1182	R>H	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ESP NCI-TCGA TOPMed gnomAD
rs767690691 COSM3794177	1184	H>Y	Variant assessed as Somatic; MODERATE impact. urinary_tract [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD
rs1369978716	1186	D>E		No	gnomAD
rs2032743910	1188	F>V		No	TOPMed gnomAD
rs759938108	1189	D>G		No	ExAC gnomAD
rs1426906183	1190	L>F		No	TOPMed gnomAD
rs1402926607	1191	E>G		No	TOPMed gnomAD
rs1359078808	1191	E>K		No	gnomAD
rs1157621442	1192	S>G		No	gnomAD
rs1470328021	1192	S>N		No	gnomAD
rs771521806	1194	E>D		No	ExAC gnomAD
rs2032743431	1194	E>DYSLFSVQLHHV*		No	Ensembl
COSM5705874	1196	L>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1346463706	1196	L>V		No	TOPMed gnomAD
rs2032743225	1198	P>R		No	TOPMed
rs2032743175	1199	L>H		No	Ensembl
rs1268583387	1200	C>R		No	TOPMed gnomAD
rs1269513499	1201	K>R		No	gnomAD
rs773701351	1206	T>I		No	ExAC gnomAD
TCGA novel	1207	V>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs2032742761	1212	P>L		No	Ensembl
TCGA novel	1212	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs2032742710	1213	L>S		No	TOPMed
rs1284454148	1215	P>L		No	gnomAD
rs769199188	1215	P>S		No	ExAC gnomAD
rs1215201109	1216	Q>E		No	TOPMed
rs747644799	1217	K>Q		No	ExAC TOPMed gnomAD
rs1338845115	1218	I>V		No	gnomAD
TCGA novel	1219	N>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1045640755	1219	N>Y		No	TOPMed gnomAD
rs1567119831	1224	D>N		No	Ensembl
rs117347582 RCV001519222	1225	A>S		No	ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs766654821	1225	A>V		No	ExAC TOPMed gnomAD
rs760997475	1226	L>H		No	Ensembl
rs2032669870	1226	L>V		No	TOPMed gnomAD
rs2032669592	1233	A>T		No	Ensembl
rs776268861	1234	R>L		No	ExAC TOPMed gnomAD
rs776268861	1234	R>Q		No	ExAC TOPMed gnomAD
RCV002008526 rs770295197	1234	R>W		No	ClinVar ExAC TOPMed dbSNP gnomAD
RCV002017436 rs2032669345	1236	I>M		No	ClinVar TOPMed dbSNP gnomAD
rs1422824446	1236	I>T		No	gnomAD
rs375380714	1237	Q>P		No	ESP ExAC TOPMed gnomAD
rs746666900	1241	A>V		No	ExAC gnomAD
rs187899168	1244	S>P		No	1000Genomes ExAC TOPMed gnomAD
rs1392640703	1245	G>D		No	gnomAD
rs771788893	1246	Y>C		No	ExAC TOPMed gnomAD
rs2032668919	1247	N>D		No	TOPMed
RCV000882861 rs148375509	1247	N>K		No	ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1205633763	1250	H>L		No	gnomAD
rs1205633763	1250	H>R		No	gnomAD
rs1567117427	1253	G>E		No	TOPMed gnomAD
rs370903647	1254	E>D		No	ESP ExAC TOPMed gnomAD
TCGA novel	1257	I>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs958032449	1258	P>R		No	Ensembl
rs771728220	1258	P>S		No	ExAC TOPMed gnomAD
rs1360665697	1259	I>V		No	TOPMed gnomAD
rs745702420 COSM961865	1260	F>L	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
RCV000971624 rs139408969	1264	G>E		No	ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1379118920	1264	G>R		No	TOPMed gnomAD
rs2032531682	1265	M>I		No	Ensembl
rs770917711	1265	M>V		No	ExAC TOPMed gnomAD
rs201899517	1266	G>E		No	1000Genomes ExAC gnomAD
rs1322889701	1267	D>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
rs1425033820	1268	S>C		No	gnomAD
rs1165655070	1273	H>D		No	gnomAD
rs1042695336	1274	S>F		No	TOPMed gnomAD
rs1042695336	1274	S>Y		No	TOPMed gnomAD
rs199934267	1275	I>V		No	TOPMed gnomAD
rs777627331	1276	L>Q		No	ExAC gnomAD
rs1268536076	1277	S>N		No	gnomAD
rs1177836235	1278	F>Y		No	gnomAD
rs774045909	1280	V>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs2032530976	1281	E>G		No	TOPMed
COSM433887	1281	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs561720791	1283	S>L		No	1000Genomes ExAC TOPMed gnomAD
TCGA novel	1284	I>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs2032516500	1285	K>R		No	TOPMed
TCGA novel	1285	K>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs749031006	1286	Y>C		No	ExAC gnomAD
rs2032516363	1288	N>H		No	TOPMed
rs564247521	1289	S>N		No	1000Genomes ExAC TOPMed gnomAD
COSM1478130	1290	I>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs149097306 COSM3420308	1291	K>N	large_intestine [Cosmic]	No	cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs1217564561	1292	E>D		No	TOPMed gnomAD
rs2032516078	1292	E>K		No	Ensembl
rs1303835548	1293	M>I		No	TOPMed
rs1309888623	1295	I>F		No	gnomAD
rs148011271	1296	L>I		No	ESP ExAC TOPMed gnomAD
rs2032515684	1296	L>P		No	TOPMed
rs1052813763	1297	F>S		No	TOPMed
rs955233917	1298	A>T		No	TOPMed
rs2032515532	1298	A>V		No	TOPMed
rs746117653	1300	T>A		No	ExAC gnomAD
rs2032515198	1302	Y>C		No	TOPMed gnomAD
TCGA novel	1303	R>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
COSM470659	1305	G>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM1301137	1306	L>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2032514969	1307	K>Q		No	Ensembl
rs181623854	1308	V>A		No	1000Genomes ExAC TOPMed gnomAD
rs149186253	1310	P>R		No	ESP ExAC gnomAD
rs1433193595	1310	P>S		No	gnomAD
rs1433193595	1310	P>T		No	gnomAD
rs1269197116	1312	E>K		No	TOPMed gnomAD
rs1269197116	1312	E>Q		No	TOPMed gnomAD
rs2141276024	1313	R>T		No	Ensembl
rs2032514441	1314	D>E		No	Ensembl
rs778476475	1314	D>G		No	ExAC TOPMed gnomAD
rs778476475	1314	D>V		No	ExAC TOPMed gnomAD
TCGA novel	1314	D>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1432080674	1315	P>L		No	gnomAD
TCGA novel	1315	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs373699629	1316	R>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	ESP ExAC NCI-TCGA TOPMed gnomAD
rs373699629	1316	R>G		No	ESP ExAC TOPMed gnomAD
rs138510410	1316	R>L		No	1000Genomes ESP ExAC TOPMed gnomAD
RCV001903318 rs138510410	1316	R>Q		No	ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs767055800	1317	V>F		No	ExAC TOPMed gnomAD
rs767055800	1317	V>I		No	ExAC TOPMed gnomAD
rs552698480	1318	P>S		No	TOPMed gnomAD
rs552698480	1318	P>T		No	TOPMed gnomAD
rs751244971	1319	M>I		No	ExAC gnomAD
rs1241927414	1319	M>T		No	gnomAD
rs758908861	1319	M>V		No	ExAC TOPMed gnomAD
rs1462297718	1320	L>P		No	TOPMed gnomAD
rs147112447	1322	W>C		No	ESP TOPMed gnomAD
rs778270634	1326	A>T		No	TOPMed gnomAD
rs541843760	1329	I>L		No	1000Genomes ExAC gnomAD
rs2032513624	1329	I>S		No	TOPMed
rs1297229705	1331	A>G		No	TOPMed gnomAD
RCV002040097 rs761815089	1332	I>T		No	ClinVar ExAC dbSNP gnomAD
rs1336396878	1332	I>V		No	gnomAD
rs1292268909	1336	L>S		No	TOPMed gnomAD
rs1292268909	1336	L>W		No	TOPMed gnomAD
rs1340343438 COSM961864	1337	G>E	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD
rs1311071387	1337	G>R		No	TOPMed gnomAD
rs372661227	1338	D>V		No	ESP ExAC TOPMed gnomAD
rs1001855717	1340	G>R		No	gnomAD
rs866017422	1342	P>L		No	TOPMed gnomAD
rs2032435762	1344	F>L		No	TOPMed
rs141869423	1348	Q>H		No	1000Genomes ESP ExAC TOPMed gnomAD
rs781741948	1349	N>K		No	ExAC gnomAD
rs1468892016	1352	H>R		No	gnomAD
rs1767559409	1353	N>S		No	gnomAD
rs757935824	1357	A>P		No	ExAC gnomAD
rs2032422322	1357	A>V		No	Ensembl
rs143022130 RCV000901283	1359	M>I		No	ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs745352887	1359	M>V		No	ExAC gnomAD
rs1464967921	1361	F>L		No	TOPMed gnomAD
rs1464967921	1361	F>V		No	TOPMed gnomAD
rs2032421978	1362	A>T		No	Ensembl
rs900840781	1363	V>G		No	Ensembl
rs2032421933	1363	V>L		No	Ensembl
COSM188027 rs557063833	1364	A>T	large_intestine [Cosmic]	No	cosmic curated 1000Genomes ExAC gnomAD
rs1042166926	1365	Q>*		No	TOPMed gnomAD
rs1567115645	1365	Q>R		No	Ensembl
rs2032421706	1366	R>G		No	TOPMed
rs1169079077	1366	R>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
rs753736868	1368	T>I		No	ExAC gnomAD
rs763804672	1369	C>R		No	ExAC gnomAD
rs755910310	1370	P>R		No	ExAC gnomAD
COSM344351 rs752699712	1371	Q>E	lung [Cosmic]	No	cosmic curated ExAC gnomAD
rs1221457511	1371	Q>R		No	TOPMed gnomAD
COSM1372962	1373	L>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2032421232	1373	L>V		No	TOPMed
rs1227628815	1374	I>K		No	TOPMed gnomAD
rs1269984047	1374	I>L		No	TOPMed gnomAD
rs1227628815	1374	I>T		No	TOPMed gnomAD
rs1269984047	1374	I>V		No	TOPMed gnomAD
rs1327821931	1375	Q>R		No	TOPMed gnomAD
rs763162821	1377	H>Y		No	ExAC gnomAD
rs773402048	1378	L>V		No	ExAC TOPMed gnomAD
rs372200839 RCV000890155	1380	R>C		No	ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs536630830 COSM1129202	1380	R>H	prostate [Cosmic]	No	cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs372200839	1380	R>S		No	ESP ExAC TOPMed gnomAD
rs1297366018	1381	L>P		No	TOPMed gnomAD
rs16957294	1382	L>V		No	1000Genomes ESP ExAC TOPMed gnomAD
rs2032315753	1386	L>F		No	Ensembl
rs2032315714	1387	P>R		No	gnomAD
rs754951007	1388	N>K		No	ExAC gnomAD
RCV000927613 rs546603068	1389	I>L		No	ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs761894888	1389	I>M		No	ExAC gnomAD
rs765236578	1389	I>R		No	ExAC TOPMed gnomAD
rs546603068	1389	I>V		No	1000Genomes ExAC TOPMed gnomAD
rs7175979	1392	E>Q		No	Ensembl
rs754037799	1393	D>H		No	ExAC gnomAD
rs1321733993	1394	T>I		No	TOPMed gnomAD
rs2032315204	1395	P>Q		No	Ensembl
rs2032315156	1396	C>Y		No	TOPMed
rs764268195	1397	L>H		No	ExAC gnomAD
rs761074877	1400	I>V		No	ExAC TOPMed gnomAD
rs1232782722	1402	L>V		No	gnomAD
rs2032314899	1403	F>L		No	TOPMed
rs2032314855	1404	H>L		No	TOPMed
rs1391489277	1406	L>W		No	TOPMed gnomAD
rs2032298424	1407	V>G		No	gnomAD
rs2032298478	1407	V>M		No	Ensembl
TCGA novel rs2032298374	1408	G>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed
rs757320774	1409	A>V		No	ExAC TOPMed gnomAD
rs368739715	1410	V>A		No	ESP ExAC TOPMed gnomAD
rs952328172	1410	V>M		No	TOPMed
rs764355906	1412	A>G		No	ExAC TOPMed gnomAD
rs1321319018	1412	A>T		No	gnomAD
rs764355906	1412	A>V		No	ExAC TOPMed gnomAD
rs760880459	1413	F>L		No	ExAC gnomAD
rs2032297827	1414	P>A		No	gnomAD
rs2032297827	1414	P>S		No	gnomAD
COSM3501337	1415	S>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1295460185	1416	L>F		No	gnomAD
rs1248081326	1417	Y>C		No	TOPMed gnomAD
rs1208073289	1417	Y>H		No	TOPMed gnomAD
COSM4397136	1418	W>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs149778120	1418	W>R		No	ESP ExAC gnomAD
rs759891752	1419	D>H		No	ExAC TOPMed gnomAD
COSM3401739 rs1596082433	1419	D>V	Variant assessed as Somatic; MODERATE impact. central_nervous_system [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated Ensembl
COSM3816107	1420	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM3816106	1420	D>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs771441856	1422	V>A		No	ExAC gnomAD
rs762422694	1425	Q>*		No	ExAC TOPMed gnomAD
rs762422694	1425	Q>E		No	ExAC TOPMed gnomAD
rs769639574	1428	S>T		No	ExAC gnomAD
rs1485349055	1430	S>T		No	gnomAD
rs35242751	1431	S>F		No	Ensembl
rs2032296686	1432	S>F		No	gnomAD
rs768594604	1434	N>S		No	ExAC TOPMed gnomAD
rs779903626	1435	H>R		No	ExAC gnomAD
rs1313701761	1437	Y>C		No	gnomAD
rs1313701761	1437	Y>F		No	gnomAD
rs200770305	1440	H>R		No	Ensembl
rs758341705	1440	H>Y		No	ExAC gnomAD
rs1361518761	1443	T>S		No	gnomAD
rs2032295918	1445	A>T		No	gnomAD
rs1567113488	1447	M>T		No	Ensembl
rs370164043	1448	L>F		No	ESP TOPMed gnomAD
rs777831990 COSM1188987	1449	Q>E	lung [Cosmic]	No	cosmic curated ExAC TOPMed gnomAD
rs151057109	1450	I>M		No	ESP ExAC TOPMed gnomAD
rs756125307	1450	I>T		No	ExAC TOPMed gnomAD
rs1404029287	1450	I>V		No	gnomAD
rs2032295498	1451	L>V		No	TOPMed gnomAD
rs1302419167	1452	L>F		No	TOPMed
rs1380142442	1453	T>K		No	TOPMed
rs2141266911	1453	T>S		No	Ensembl
rs755342723	1454	V>A		No	ExAC gnomAD
rs1168761400	1454	V>I		No	TOPMed gnomAD
rs1168761400	1454	V>L		No	TOPMed gnomAD
rs2141266895	1455	D>E		No	Ensembl
rs1390372077	1455	D>N		No	gnomAD
rs1040911348	1456	T>A		No	Ensembl
rs973556447	1457	G>D		No	TOPMed
rs2032188541	1460	L>V		No	TOPMed
rs758633734	1462	Q>H		No	ExAC gnomAD
rs112540567	1462	Q>L		No	Ensembl
rs747491054	1463	V>I		No	ExAC TOPMed gnomAD
rs765799187	1464	Q>P		No	ExAC TOPMed gnomAD
rs1244166418	1466	D>A		No	TOPMed gnomAD
TCGA novel	1466	D>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1323634286	1467	S>G		No	TOPMed gnomAD
TCGA novel	1467	S>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs2032188180	1467	S>N		No	TOPMed
rs2141262655	1467	S>R		No	Ensembl
rs1157361706	1469	E>D		No	TOPMed gnomAD
rs1446922252	1469	E>Q		No	TOPMed
rs776266897	1470	A>G		No	ExAC gnomAD
rs963190749	1470	A>P		No	TOPMed gnomAD
rs963190749	1470	A>S		No	TOPMed gnomAD
rs2032187921	1472	S>C		No	Ensembl
COSM1756899	1472	S>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs771920019	1473	A>E		No	ExAC gnomAD
rs139296068	1473	A>S		No	ESP ExAC TOPMed gnomAD
COSM1470818 rs139296068	1473	A>T	Variant assessed as Somatic; MODERATE impact. prostate [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs1364529903	1474	S>T		No	gnomAD
rs780634792	1476	F>C		No	ExAC TOPMed gnomAD
TCGA novel rs2032187406	1476	F>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	Ensembl NCI-TCGA
rs1277702112	1479	E>G		No	TOPMed
rs2032187125	1480	I>T		No	TOPMed
rs770836072	1480	I>V		No	ExAC gnomAD
rs748288799	1483	Y>C		No	ExAC TOPMed gnomAD
rs781330290	1484	T>A		No	ExAC TOPMed gnomAD
TCGA novel	1486	G>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs2032104680	1487	S>F		No	TOPMed gnomAD
rs747020243	1488	I>N		No	ExAC gnomAD
rs747020243	1488	I>T		No	ExAC gnomAD
rs772966664	1488	I>V		No	ExAC gnomAD
rs780364099	1489	G>E		No	ExAC gnomAD
rs2032104477	1489	G>R		No	Ensembl
rs2032104381	1490	C>R		No	Ensembl
rs146245818	1492	I>T		No	ESP ExAC TOPMed gnomAD
rs1373275225	1493	P>S		No	Ensembl
rs1428742525	1494	G>A		No	TOPMed gnomAD
rs1428742525	1494	G>D		No	TOPMed gnomAD
rs1596078215	1496	Y>D		No	Ensembl
rs2032104036	1498	W>*		No	gnomAD
rs746301219	1504	G>D		No	ExAC gnomAD
rs1460339092	1505	I>V		No	gnomAD
rs1269758301	1506	T>S		No	Ensembl
COSM6077122	1507	P>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs757635600	1507	P>T		No	ExAC TOPMed gnomAD
rs2032103437	1508	Y>C		No	Ensembl
rs1017583113 COSM4054763	1510	R>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD
rs778098996	1510	R>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs2141259173	1511	C>R		No	Ensembl
rs570338626	1512	A>G		No	1000Genomes ExAC gnomAD
rs752129789	1513	A>S		No	ExAC gnomAD
rs2032103035	1517	H>Q		No	gnomAD
rs767262512	1518	Y>C		No	ExAC gnomAD
rs759187953	1519	L>F		No	ExAC TOPMed gnomAD
TCGA novel	1519	L>W	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1190433724	1520	L>F		No	TOPMed gnomAD
rs1273405442	1520	L>P		No	TOPMed gnomAD
rs373152125	1521	G>R		No	Ensembl
rs1228725947	1522	V>A		No	gnomAD
TCGA novel	1522	V>G	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs751148703	1524	P>L		No	ExAC TOPMed gnomAD
rs762689115	1525	P>L		No	ExAC gnomAD
rs2032102428	1526	E>A		No	gnomAD
rs547399909	1526	E>K		No	1000Genomes ExAC gnomAD
rs953911188	1528	L>R		No	TOPMed gnomAD
rs760865862	1530	T>A		No	ExAC gnomAD
rs2032102164	1530	T>S		No	TOPMed
rs2032102096	1531	N>D		No	TOPMed gnomAD
rs2032102096	1531	N>H		No	TOPMed gnomAD
rs765285690	1532	S>F		No	ExAC gnomAD
rs753040283 RCV001997108	1534	E>missing		No	ClinVar dbSNP
rs2141257605	1534	E>G		No	Ensembl
rs761660385	1534	E>K		No	ExAC TOPMed gnomAD
rs745607297	1535	G>R		No	TOPMed gnomAD
rs1567109671	1536	E>D		No	Ensembl
rs1451610441	1537	Y>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
rs1330852073	1538	S>N		No	gnomAD
rs201384130	1538	S>R		No	1000Genomes ExAC TOPMed gnomAD
rs767726031	1539	A>T		No	ExAC TOPMed gnomAD
rs143431275	1539	A>V		No	ESP TOPMed gnomAD
rs1421736259	1540	L>H		No	gnomAD
rs778825938	1540	L>V		No	Ensembl
rs1025118531	1542	S>N		No	TOPMed
rs1436035164	1543	Y>*		No	gnomAD
rs774750942	1543	Y>F		No	ExAC TOPMed gnomAD
rs749145487	1544	L>V		No	ExAC TOPMed gnomAD
rs1012781095	1545	S>F		No	TOPMed gnomAD
RCV001660378 rs3917223 CA7517821 VAR_061822 RCV000249076	1548	T>A		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs3917223	1548	T>S		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1160622747	1549	N>D		No	gnomAD
rs1160622747	1549	N>H		No	gnomAD
TCGA novel	1551	F>G	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs2032064219	1551	F>V		No	Ensembl
rs773449503	1553	L>I		No	ExAC gnomAD
TCGA novel	1556	E>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1212994690	1557	Y>C		No	gnomAD
rs1320146415	1557	Y>H		No	TOPMed gnomAD
rs748620426	1558	W>R		No	ExAC gnomAD
rs1405769158	1559	D>G		No	TOPMed gnomAD
rs1268634399	1559	D>N		No	gnomAD
rs1405769158	1559	D>V		No	TOPMed gnomAD
rs2141257505	1561	V>A		No	Ensembl
rs201595040	1561	V>I		No	1000Genomes ExAC gnomAD
rs1015374908	1563	P>H		No	TOPMed gnomAD
rs1015374908	1563	P>L		No	TOPMed gnomAD
rs201922951	1565	L>R		No	1000Genomes ExAC TOPMed gnomAD
rs757981667	1566	Q>E		No	ExAC gnomAD
rs776252881	1566	Q>R		No	Ensembl
rs1286146322	1568	W>*		No	TOPMed gnomAD
rs1567108628	1568	W>C		No	Ensembl
rs1286146322	1568	W>L		No	TOPMed gnomAD
rs1567108622	1569	C>Y		No	TOPMed gnomAD
rs551157608	1570	A>V		No	1000Genomes ExAC TOPMed gnomAD
rs1169902581	1571	D>H		No	gnomAD
rs2032000439	1572	P>A		No	Ensembl
TCGA novel	1572	P>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1442311785	1573	A>V		No	TOPMed gnomAD
rs753658848	1574	L>F		No	ExAC TOPMed gnomAD
rs2141255251	1575	L>I		No	Ensembl
rs777911334	1577	C>G		No	ExAC gnomAD
rs1484091702	1577	C>Y		No	TOPMed gnomAD
rs2032000170	1578	L>V		No	Ensembl
rs2032000106	1578	L>W		No	Ensembl
rs1230988545	1579	K>*		No	gnomAD
rs1472904185	1579	K>R		No	TOPMed gnomAD
rs2031999900	1580	Q>*		No	TOPMed
rs1204243548	1580	Q>R		No	gnomAD
rs1277566495	1581	K>*		No	Ensembl
rs145929255	1582	N>H		No	ESP ExAC TOPMed gnomAD
COSM2187807	1582	N>K	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM4615557	1582	N>T	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2031999671	1583	T>A		No	TOPMed gnomAD
rs750644112	1584	V>G		No	ExAC gnomAD
rs147296247	1584	V>L		No	1000Genomes ExAC TOPMed gnomAD
rs147296247	1584	V>M		No	1000Genomes ExAC TOPMed gnomAD
TCGA novel	1585	V>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs765468511	1585	V>G		No	ExAC gnomAD
rs765437647	1587	Y>F		No	ExAC TOPMed gnomAD
TCGA novel	1588	P>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1389632292	1590	K>N		No	TOPMed gnomAD
rs754000018	1592	N>S		No	ExAC gnomAD
rs2031952572	1593	S>G		No	Ensembl
rs1459055373	1596	E>A		No	gnomAD
rs2031952465	1599	D>A		No	TOPMed
rs2031952352	1600	D>V		No	Ensembl
rs1596074896	1605	L>R		No	Ensembl
rs1184191714	1608	A>T		No	gnomAD
rs775900069	1610	H>D		No	ExAC gnomAD
rs775900069	1610	H>Y		No	ExAC gnomAD
RCV000502460 CA7517761 rs78948790 RCV000953335	1612	R>G		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs2031951750	1612	R>K		No	TOPMed
rs757277338	1613	C>F		No	ExAC gnomAD
rs754090022	1614	P>A		No	ExAC gnomAD
TCGA novel	1614	P>H	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs754090022	1614	P>S		No	ExAC gnomAD
rs2031850219 TCGA novel	1615	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed
rs1296198050	1615	R>W		No	gnomAD
RCV001947898 rs764269850	1616	S>F		No	ClinVar ExAC TOPMed dbSNP gnomAD
rs995680412	1616	S>T		No	TOPMed
rs1367261346	1617	A>T		No	gnomAD
rs753088815	1619	D>G		No	ExAC TOPMed gnomAD
rs753088815	1619	D>V		No	ExAC TOPMed gnomAD
rs767972972	1620	E>K		No	ExAC TOPMed gnomAD
rs774666642	1621	R>*		No	ExAC gnomAD
rs752483268	1621	R>Q		No	ExAC TOPMed gnomAD
rs200344888	1623	H>Q		No	1000Genomes TOPMed gnomAD
RCV001911925 rs373539628	1623	H>R		No	ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs773042073	1625	V>I		No	ExAC gnomAD
rs1244281789	1628	L>V		No	gnomAD
rs150744789	1629	F>L		No	ESP ExAC TOPMed gnomAD
RCV001938054 rs141227308	1632	A>V		No	ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs746987173	1633	I>T		No	ExAC TOPMed gnomAD
rs768271024	1633	I>V		No	ExAC gnomAD
rs779813686	1640	C>W		No	ExAC gnomAD
rs2031848696	1641	C>R		No	gnomAD
rs1478610681	1642	Q>E		No	TOPMed gnomAD
rs2031848572	1644	I>V		No	TOPMed
rs1228475850	1646	N>T		No	gnomAD
rs1866087835	1647	G>E		No	Ensembl
rs1282285649	1647	G>R		No	TOPMed gnomAD
rs756319647	1649	E>D		No	ExAC TOPMed gnomAD
rs1335908378 RCV002026862	1649	E>G		No	ClinVar dbSNP gnomAD
rs752793764	1650	V>D		No	ExAC gnomAD
rs781632415	1653	C>W		No	ExAC gnomAD
rs2031847800	1654	I>V		No	TOPMed
COSM3501335	1656	H>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs550798440	1657	A>S		No	1000Genomes ExAC TOPMed gnomAD
rs550798440 COSM4054762	1657	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs766965497	1657	A>V		No	ExAC TOPMed gnomAD
rs1567106185	1658	L>F		No	TOPMed
rs1472745261	1659	H>Q		No	gnomAD
rs1336388891	1663	G>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs749939696	1666	I>V		No	ExAC gnomAD
rs113020762	1669	K>N		No	ExAC TOPMed gnomAD
rs1407730007	1669	K>Q		No	TOPMed
rs2141248696 RCV001913822	1670	I>missing		No	ClinVar dbSNP
rs1274902485	1670	I>L		No	TOPMed gnomAD
rs1274902485	1670	I>V		No	TOPMed gnomAD
rs1206778631	1674	R>*		No	gnomAD
rs1303434876	1674	R>Q		No	TOPMed gnomAD
rs2031813045	1675	V>A		No	Ensembl
rs758969172	1675	V>M		No	ExAC gnomAD
COSM1470819	1676	V>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2031812871	1678	V>I		No	TOPMed gnomAD
rs753566038	1679	E>G		No	ExAC gnomAD
rs1272137019	1679	E>Q		No	TOPMed gnomAD
rs1435775042	1682	A>P		No	gnomAD
rs763632618	1682	A>V		No	ExAC gnomAD
rs760576366	1683	R>G		No	ExAC gnomAD
rs2031812146	1684	G>S		No	TOPMed
rs1567105631	1685	C>R		No	Ensembl
rs2031811892	1686	A>P		No	gnomAD
rs558013224	1687	Y>C		No	1000Genomes ExAC TOPMed gnomAD
rs771784188	1687	Y>D		No	ExAC TOPMed gnomAD
rs771784188	1687	Y>H		No	ExAC TOPMed gnomAD
rs908923221	1688	P>L		No	Ensembl
rs774222169	1688	P>S		No	ExAC TOPMed gnomAD
rs1016786593	1690	P>S		No	TOPMed
rs1234589430	1691	Y>H		No	TOPMed gnomAD
TCGA novel	1691	Y>N	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs2031811142	1692	L>V		No	TOPMed
rs2031811068	1693	D>H		No	Ensembl
TCGA novel	1693	D>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1192508790	1694	E>A		No	TOPMed gnomAD
rs1192508790	1694	E>G		No	TOPMed gnomAD
rs1171647817	1695	Y>C		No	gnomAD
rs748150323 RCV001925729	1698	T>A		No	ClinVar ExAC TOPMed dbSNP gnomAD
rs2031810571	1698	T>K		No	gnomAD
rs1464362805	1700	P>T		No	gnomAD
rs2031810267	1701	G>D		No	gnomAD
rs774315003	1704	R>M		No	ExAC gnomAD
rs766208664	1705	G>D		No	ExAC gnomAD
RCV001358080 rs2141245368	1705	G>S		No	ClinVar Ensembl dbSNP
rs776569338	1706	N>S		No	ExAC gnomAD
rs768716127	1707	P>L		No	ExAC TOPMed gnomAD
rs768716127	1707	P>R		No	ExAC TOPMed gnomAD
COSM2187798	1708	L>F	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1798392718	1709	H>N		No	TOPMed
COSM5595530	1709	H>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2031716308 RCV001983107	1710	L>V		No	ClinVar TOPMed dbSNP
rs1381831527	1711	S>C		No	gnomAD
rs772603727	1712	R>C		No	ExAC TOPMed gnomAD
rs772603727	1712	R>G		No	ExAC TOPMed gnomAD
rs141828250	1712	R>P		No	1000Genomes ESP ExAC TOPMed gnomAD
rs772603727	1712	R>S		No	ExAC TOPMed gnomAD
rs749732238	1713	E>A		No	ExAC gnomAD
rs1305811195	1714	R>Q		No	TOPMed gnomAD
rs777158316	1714	R>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA gnomAD
rs771939192	1715	Y>F		No	Ensembl
rs767128461	1716	R>Q		No	ExAC TOPMed gnomAD
COSM1231607 rs201159906	1716	R>W	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1421959639	1717	K>R		No	gnomAD
COSM1231606 rs754820204	1718	L>F	large_intestine [Cosmic]	No	cosmic curated ExAC gnomAD
rs2031715295	1719	H>R		No	Ensembl
rs1359739147	1721	V>G		No	Ensembl
rs891169475	1727	I>T		No	Ensembl
rs762804188	1727	I>V		No	ExAC TOPMed gnomAD
rs2031714973	1728	I>M		No	TOPMed
rs773145191	1728	I>T		No	ExAC TOPMed gnomAD
rs1482743727	1730	E>A		No	gnomAD
rs764105557	1730	E>Q		No	ExAC gnomAD
COSM961862	1732	A>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1183984866	1732	A>V		No	TOPMed gnomAD
rs775902455	1734	S>N		No	ExAC
RCV002082501 rs139367236	1734	S>R		No	ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs774579159	1736	E>K		No	ExAC gnomAD
rs749778686	1737	T>A		No	ExAC TOPMed gnomAD
rs749778686	1737	T>S		No	ExAC TOPMed gnomAD
rs149137306	1738	N>S		No	ESP ExAC TOPMed gnomAD
RCV001888282 rs2141245282	1740	M>I		No	ClinVar Ensembl dbSNP
rs1596070027	1740	M>V		No	Ensembl
rs769337008	1741	L>S		No	ExAC gnomAD
rs747638794	1742	F>L		No	ExAC TOPMed gnomAD
rs1874145198	1742	F>L		No	Ensembl
rs1455989940	1745	N>S		No	TOPMed gnomAD
rs1323689207	1748	L>*		No	gnomAD
rs780883781	1748	L>F		No	ExAC TOPMed gnomAD
rs201714735	1749	L>V		No	Ensembl
rs2031713820	1750	L>E		No	Ensembl

1 associated diseases with Q8IWV7

[MIM: 243800]: Johanson-Blizzard syndrome (JBS)

This disorder includes congenital exocrine pancreatic insufficiency, multiple malformations such as nasal wing aplasia, and intellectual disability. Pancreas of individuals with JBS do not express UBR1 and show intrauterine-onset destructive pancreatitis. . Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

This disorder includes congenital exocrine pancreatic insufficiency, multiple malformations such as nasal wing aplasia, and intellectual disability. Pancreas of individuals with JBS do not express UBR1 and show intrauterine-onset destructive pancreatitis. . Note=The disease is caused by variants affecting the gene represented in this entry.

5 regional properties for Q8IWV7

Type	Name	Position	InterPro Accession
conserved_site	ATP-dependent RNA helicase DEAD-box, conserved site	684 - 692	IPR000629
domain	Helicase, C-terminal domain-like	749 - 910	IPR001650
domain	DEAD/DEAH box helicase domain	554 - 726	IPR011545
domain	Helicase superfamily 1/2, ATP-binding domain	548 - 753	IPR014001
domain	RNA helicase, DEAD-box type, Q motif	529 - 557	IPR014014

Functions

		Description
EC Number	2.3.2.27	Aminoacyltransferases
Subcellular Localization	Cytoplasm, cytosol
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

4 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.
proteasome complex	A large multisubunit complex which catalyzes protein degradation, found in eukaryotes, archaea and some bacteria. In eukaryotes, this complex consists of the barrel shaped proteasome core complex and one or two associated proteins or complexes that act in regulating entry into or exit from the core.
ubiquitin ligase complex	A protein complex that includes a ubiquitin-protein ligase and enables ubiquitin protein ligase activity. The complex also contains other proteins that may confer substrate specificity on the complex.

3 GO annotations of molecular function

Name	Definition
leucine binding	Binding to 2-amino-4-methylpentanoic acid.
ubiquitin protein ligase activity	Catalysis of the transfer of ubiquitin to a substrate protein via the reaction X-ubiquitin + S -> X + S-ubiquitin, where X is either an E2 or E3 enzyme, the X-ubiquitin linkage is a thioester bond, and the S-ubiquitin linkage is an amide bond
zinc ion binding	Binding to a zinc ion (Zn).

4 GO annotations of biological process

Name	Definition
cellular response to leucine	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 leucine stimulus.
negative regulation of TOR signaling	Any process that stops, prevents, or reduces the frequency, rate or extent of TOR signaling.
protein ubiquitination	The process in which one or more ubiquitin groups are added to a protein.
ubiquitin-dependent protein catabolic process via the N-end rule pathway	The chemical reactions and pathways resulting in the breakdown of a protein or peptide covalently tagged with ubiquitin, via the N-end rule pathway. In the N-end rule pathway, destabilizing N-terminal residues (N-degrons) in substrates are recognized by E3 ligases (N-recognins), whereupon the substrates are linked to ubiquitin and then delivered to the proteasome for degradation.

5 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P19812	UBR1	E3 ubiquitin-protein ligase UBR1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast)	EV
Q9VX91	Ubr1	E3 ubiquitin-protein ligase UBR1	Drosophila melanogaster (Fruit fly)	PR
Q8IWV8	UBR2	E3 ubiquitin-protein ligase UBR2	Homo sapiens (Human)	SS
Q6WKZ8	Ubr2	E3 ubiquitin-protein ligase UBR2	Mus musculus (Mouse)	SS
O70481	Ubr1	E3 ubiquitin-protein ligase UBR1	Mus musculus (Mouse)	EV

10	20	30	40	50	60
MADEEAGGTE	RMEISAELPQ	TPQRLASWWD	QQVDFYTAFL	HHLAQLVPEI	YFAEMDPDLE
70	80	90	100	110	120
KQEESVQMSI	FTPLEWYLFG	EDPDICLEKL	KHSGAFQLCG	RVFKSGETTY	SCRDCAIDPT
130	140	150	160	170	180
CVLCMDCFQD	SVHKNHRYKM	HTSTGGGFCD	CGDTEAWKTG	PFCVNHEPGR	AGTIKENSRC
190	200	210	220	230	240
PLNEEVIVQA	RKIFPSVIKY	VVEMTIWEEE	KELPPELQIR	EKNERYYCVL	FNDEHHSYDH
250	260	270	280	290	300
VIYSLQRALD	CELAEAQLHT	TAIDKEGRRA	VKAGAYAACQ	EAKEDIKSHS	ENVSQHPLHV
310	320	330	340	350	360
EVLHSEIMAH	QKFALRLGSW	MNKIMSYSSD	FRQIFCQACL	REEPDSENPC	LISRLMLWDA
370	380	390	400	410	420
KLYKGARKIL	HELIFSSFFM	EMEYKKLFAM	EFVKYYKQLQ	KEYISDDHDR	SISITALSVQ
430	440	450	460	470	480
MFTVPTLARH	LIEEQNVISV	ITETLLEVLP	EYLDRNNKFN	FQGYSQDKLG	RVYAVICDLK
490	500	510	520	530	540
YILISKPTIW	TERLRMQFLE	GFRSFLKILT	CMQGMEEIRR	QVGQHIEVDP	DWEAAIAIQM
550	560	570	580	590	600
QLKNILLMFQ	EWCACDEELL	LVAYKECHKA	VMRCSTSFIS	SSKTVVQSCG	HSLETKSYRV
610	620	630	640	650	660
SEDLVSIHLP	LSRTLAGLHV	RLSRLGAVSR	LHEFVSFEDF	QVEVLVEYPL	RCLVLVAQVV
670	680	690	700	710	720
AEMWRRNGLS	LISQVFYYQD	VKCREEMYDK	DIIMLQIGAS	LMDPNKFLLL	VLQRYELAEA
730	740	750	760	770	780
FNKTISTKDQ	DLIKQYNTLI	EEMLQVLIYI	VGERYVPGVG	NVTKEEVTMR	EIIHLLCIEP
790	800	810	820	830	840
MPHSAIAKNL	PENENNETGL	ENVINKVATF	KKPGVSGHGV	YELKDESLKD	FNMYFYHYSK
850	860	870	880	890	900
TQHSKAEHMQ	KKRRKQENKD	EALPPPPPPE	FCPAFSKVIN	LLNCDIMMYI	LRTVFERAID
910	920	930	940	950	960
TDSNLWTEGM	LQMAFHILAL	GLLEEKQQLQ	KAPEEEVTFD	FYHKASRLGS	SAMNIQMLLE
970	980	990	1000	1010	1020
KLKGIPQLEG	QKDMITWILQ	MFDTVKRLRE	KSCLIVATTS	GSESIKNDEI	THDKEKAERK
1030	1040	1050	1060	1070	1080
RKAEAARLHR	QKIMAQMSAL	QKNFIETHKL	MYDNTSEMPG	KEDSIMEEES	TPAVSDYSRI
1090	1100	1110	1120	1130	1140
ALGPKRGPSV	TEKEVLTCIL	CQEEQEVKIE	NNAMVLSACV	QKSTALTQHR	GKPIELSGEA
1150	1160	1170	1180	1190	1200
LDPLFMDPDL	AYGTYTGSCG	HVMHAVCWQK	YFEAVQLSSQ	QRIHVDLFDL	ESGEYLCPLC
1210	1220	1230	1240	1250	1260
KSLCNTVIPI	IPLQPQKINS	ENADALAQLL	TLARWIQTVL	ARISGYNIRH	AKGENPIPIF
1270	1280	1290	1300	1310	1320
FNQGMGDSTL	EFHSILSFGV	ESSIKYSNSI	KEMVILFATT	IYRIGLKVPP	DERDPRVPML
1330	1340	1350	1360	1370	1380
TWSTCAFTIQ	AIENLLGDEG	KPLFGALQNR	QHNGLKALMQ	FAVAQRITCP	QVLIQKHLVR
1390	1400	1410	1420	1430	1440
LLSVVLPNIK	SEDTPCLLSI	DLFHVLVGAV	LAFPSLYWDD	PVDLQPSSVS	SSYNHLYLFH
1450	1460	1470	1480	1490	1500
LITMAHMLQI	LLTVDTGLPL	AQVQEDSEEA	HSASSFFAEI	SQYTSGSIGC	DIPGWYLWVS
1510	1520	1530	1540	1550	1560
LKNGITPYLR	CAALFFHYLL	GVTPPEELHT	NSAEGEYSAL	CSYLSLPTNL	FLLFQEYWDT
1570	1580	1590	1600	1610	1620
VRPLLQRWCA	DPALLNCLKQ	KNTVVRYPRK	RNSLIELPDD	YSCLLNQASH	FRCPRSADDE
1630	1640	1650	1660	1670	1680
RKHPVLCLFC	GAILCSQNIC	CQEIVNGEEV	GACIFHALHC	GAGVCIFLKI	RECRVVLVEG
1690	1700	1710	1720	1730	1740
KARGCAYPAP	YLDEYGETDP	GLKRGNPLHL	SRERYRKLHL	VWQQHCIIEE	IARSQETNQM

LFGFNWQLL