AiPD: Autoinhibited Protein Database

Q66K79

Gene name	CPZ
Protein name	Carboxypeptidase Z
Names	CPZ
Species	Homo sapiens (Human)
KEGG Pathway	hsa:8532
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-63 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-63 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

Yeon JH et al. (2016) "Systems-wide Identification of cis-Regulatory Elements in Proteins", Cell Systems, 2, 89-100

Autoinhibited structure

Activated structure

1 structures for Q66K79

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q66K79-F1	Predicted				AlphaFoldDB

1121 variants for Q66K79

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA2853335 rs202092274 RCV002902750	251	E>K	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA356257429 rs770373981	2	P>L		No	ClinGen ExAC TOPMed gnomAD
CA2852934 rs770373981	2	P>Q		No	ClinGen ExAC TOPMed gnomAD
CA2852932 rs772815349	2	P>S		No	ClinGen ExAC gnomAD
CA2852933 rs772815349	2	P>T		No	ClinGen ExAC gnomAD
CA356257441 rs1249044818	3	P>H		No	ClinGen gnomAD
rs1249044818 CA356257445	3	P>L		No	ClinGen gnomAD
CA2852937 rs759139720	3	P>S		No	ClinGen ExAC TOPMed gnomAD
rs759139720 CA2852938	3	P>T		No	ClinGen ExAC TOPMed gnomAD
CA92144017 rs370877808	4	P>L		No	ClinGen ExAC TOPMed
CA2852941 rs370877808	4	P>Q		No	ClinGen ExAC TOPMed
CA356257462 rs370877808	4	P>R		No	ClinGen ExAC TOPMed
CA356257454 rs1185631033	4	P>S		No	ClinGen TOPMed gnomAD
CA356257450 rs1185631033	4	P>T		No	ClinGen TOPMed gnomAD
CA356257468 rs1425081561	5	L>M		No	ClinGen gnomAD
rs2302583 VAR_027883 CA2852943	5	L>P		No	ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
rs2302583 CA2852944	5	L>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs2302583 CA356257473	5	L>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
VAR_047244 rs34964084 CA2852946	6	P>L		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP
rs767916643 CA2852945	6	P>T		No	ClinGen ExAC TOPMed gnomAD
CA2852948 rs756267252	7	L>M		No	ClinGen ExAC
CA2852949 rs780396225	7	L>P	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA92144065 rs780396225	7	L>R		No	ClinGen ExAC TOPMed gnomAD
rs1287382047 CA356257507	8	L>M		No	ClinGen gnomAD
CA356257509 rs1381571785	8	L>P		No	ClinGen gnomAD
rs1312115962 CA356257524	9	L>F		No	ClinGen TOPMed gnomAD
rs1312115962 CA356257520	9	L>I		No	ClinGen TOPMed gnomAD
CA356257534 rs1230847251	10	L>I		No	ClinGen gnomAD
CA356257545 rs1269311278	10	L>P		No	ClinGen gnomAD
rs1288502918 CA356257564	11	T>A		No	ClinGen TOPMed
rs1328964536 CA356257567	11	T>K		No	ClinGen gnomAD
rs1239539875 CA356257602	12	V>D		No	ClinGen gnomAD
CA356257599 rs1214052268	12	V>F		No	ClinGen gnomAD
CA2852953 rs746602608	13	L>M		No	ClinGen ExAC gnomAD
CA2852955 rs780942665	15	V>I		No	ClinGen ExAC TOPMed gnomAD
rs768497054 CA2852960	17	A>D		No	ClinGen ExAC gnomAD
CA356257696 rs762996967	17	A>S		No	ClinGen ExAC TOPMed gnomAD
CA2852959 rs762996967	17	A>T		No	ClinGen ExAC TOPMed gnomAD
CA356257702 rs1449039291	18	A>T		No	ClinGen TOPMed gnomAD
CA2852961 rs79736750	19	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs79736750 CA2852962	19	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs890113472 CA92144110	19	R>W		No	ClinGen TOPMed gnomAD
rs767826049 CA2852963	20	P>L		No	ClinGen ExAC gnomAD
CA356257724 rs1281181121	21	G>A		No	ClinGen gnomAD
rs1018534848 CA92144125	21	G>R		No	ClinGen TOPMed gnomAD
rs964255904 CA92144141	22	C>*		No	ClinGen TOPMed gnomAD
rs1577103978 CA356257728	22	C>G		No	ClinGen Ensembl
rs1027133427 CA92144146	23	E>G		No	ClinGen TOPMed gnomAD
CA92144144 rs974324832	23	E>K		No	ClinGen gnomAD
CA92144151 rs951645987	24	F>L		No	ClinGen Ensembl
rs750699117 CA2852964	25	E>*		No	ClinGen ExAC
rs982875969 CA356257753	26	R>G		No	ClinGen TOPMed gnomAD
CA356257754 rs760632747	26	R>L		No	ClinGen ExAC gnomAD
rs760632747 CA92144188	26	R>P		No	ClinGen ExAC gnomAD
CA2852965 rs760632747	26	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA92144164 rs982875969	26	R>W		No	ClinGen TOPMed gnomAD
rs754244022 CA2852967	27	N>K		No	ClinGen ExAC TOPMed gnomAD
rs76775183 CA2852966	27	N>T		No	ClinGen ExAC gnomAD
CA356257766 rs1427087950	28	P>L		No	ClinGen gnomAD
rs755483615 CA2852969	29	A>V		No	ClinGen ExAC gnomAD
rs1025230105 CA92153935	30	G>A		No	ClinGen TOPMed gnomAD
rs991936104 CA92144228	30	G>S		No	ClinGen TOPMed gnomAD
CA356258111 rs1304780547	32	C>R		No	ClinGen gnomAD
rs199962135 CA2852993	33	H>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2852992 rs199962135	33	H>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA356258133 rs1391361937	35	P>S		No	ClinGen gnomAD
rs372399181 CA2852995	36	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs372399181 CA92153948	36	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1436250530 CA356258142	36	P>S		No	ClinGen gnomAD
rs1436250530 CA356258140	36	P>T		No	ClinGen gnomAD
rs1325521213 CA356258147	37	A>D		No	ClinGen gnomAD
CA356258149 rs1325521213	37	A>V		No	ClinGen gnomAD
CA2852996 rs201923255	38	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1216139032 CA356258157	39	D>H		No	ClinGen gnomAD
rs933940878 CA92153956	40	S>C		No	ClinGen Ensembl
CA2852998 rs779629312	40	S>R		No	ClinGen ExAC TOPMed gnomAD
CA2853049 rs762241007	41	A>G		No	ClinGen ExAC TOPMed gnomAD
rs574181492 CA2853000	41	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs574181492 CA2852999	41	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1485998716 CA356258595	42	T>S		No	ClinGen gnomAD
rs1005824005 CA356258611	43	C>W		No	ClinGen TOPMed gnomAD
rs767089494 CA2853050	44	V>M		No	ClinGen ExAC TOPMed gnomAD
CA2853051 rs773710698	45	D>N		No	ClinGen ExAC gnomAD
rs764965394 CA2853053	47	Q>*		No	ClinGen ExAC gnomAD
rs1207329634 CA356258659	47	Q>H		No	ClinGen TOPMed
CA356258667 rs1311113903	48	L>F		No	ClinGen TOPMed
CA356258693 rs1161044185	49	R>S		No	ClinGen gnomAD
rs752336349 CA2853054	51	C>Y		No	ClinGen ExAC gnomAD
CA356258729 rs1434285901	52	S>G		No	ClinGen TOPMed gnomAD
CA356258737 rs4301095	52	S>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs762472738 CA2853055	52	S>T		No	ClinGen ExAC gnomAD
CA356258753 rs1401353165	53	D>E		No	ClinGen TOPMed gnomAD
CA2853057 rs570219062	53	D>N	Variant assessed as Somatic; 0.0002344 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA356258764 rs757179603	54	A>D		No	ClinGen ExAC gnomAD
CA2853058 rs757179603	54	A>V		No	ClinGen ExAC gnomAD
rs145429481 CA2853060	55	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs145429481 CA2853061	55	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA2853062 rs780282373	56	Y>D		No	ClinGen ExAC gnomAD
CA356258797 rs1316695417	57	N>H		No	ClinGen gnomAD
rs202061891 CA2853063	58	H>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA356258841 rs1256131754	59	T>S		No	ClinGen gnomAD
CA356258854 rs1158049029	60	T>I		No	ClinGen TOPMed
CA356258870 rs1428422896	61	F>L		No	ClinGen gnomAD
rs772695976 CA2853067	62	P>L		No	ClinGen ExAC gnomAD
CA2853066 rs200477477	62	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2853069 rs747350026	63	N>K		No	ClinGen ExAC TOPMed gnomAD
CA2853068 rs773908875	63	N>T		No	ClinGen ExAC TOPMed gnomAD
rs1312366437 CA356258913	65	L>F		No	ClinGen gnomAD
CA2853073 rs555617825	68	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA2853072 rs145749554	68	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2853075 rs773719320	69	S>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA2853074 rs773719320	69	S>L		No	ClinGen ExAC TOPMed gnomAD
CA92154949 rs773719320	69	S>W		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	71	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA356259265 rs1577110539	72	V>G		No	ClinGen Ensembl
rs1349624583 CA356259260	72	V>M		No	ClinGen TOPMed gnomAD
rs1278994795 CA356259272	73	V>M		No	ClinGen gnomAD
rs1382759528 CA356259283	74	E>G		No	ClinGen TOPMed
rs1484401139 CA356259295	75	A>D		No	ClinGen gnomAD
CA356259300 rs1206608363	76	S>R		No	ClinGen gnomAD
CA2853080 rs754033047	76	S>T		No	ClinGen ExAC TOPMed gnomAD
rs755140441 CA2853081	77	S>F		No	ClinGen ExAC TOPMed gnomAD
CA356259321 rs748204322	78	E>*		No	ClinGen ExAC TOPMed gnomAD
CA2853083 rs748204322	78	E>K		No	ClinGen ExAC TOPMed gnomAD
CA356259320 rs748204322	78	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA2853086 rs747527488	79	Y>*		No	ClinGen ExAC TOPMed gnomAD
rs778371973 CA2853085	79	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA356259330 rs1454081622	79	Y>H		No	ClinGen TOPMed gnomAD
rs1443909125 CA356259342	80	I>N		No	ClinGen TOPMed
CA92154966 rs868173108	81	L>P		No	ClinGen Ensembl
TCGA novel	81	L>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2853089 rs370601548	84	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs778908291 CA92154970	85	L>V		No	ClinGen TOPMed gnomAD
CA92154972 rs897400541	86	H>Q		No	ClinGen TOPMed gnomAD
rs1440580877 CA356259396	86	H>Y		No	ClinGen gnomAD
rs768164769 CA2853090	87	Q>*		No	ClinGen ExAC gnomAD
CA2853091 rs774103255	87	Q>R		No	ClinGen ExAC gnomAD
rs1234652487 CA356259419	88	L>F		No	ClinGen gnomAD
CA2853092 rs761264809	90	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA356259441 rs1345176869	90	E>V		No	ClinGen gnomAD
TCGA novel	91	G>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs760618817 CA2853095	91	G>D		No	ClinGen ExAC gnomAD
rs773066083 CA2853094	91	G>S		No	ClinGen ExAC gnomAD
rs766395839 CA2853096	92	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs753569071 CA356259465	93	C>G		No	ClinGen ExAC TOPMed gnomAD
rs753569071 CA2853097	93	C>R		No	ClinGen ExAC TOPMed gnomAD
rs980213831 CA92154984	94	N>D		No	ClinGen Ensembl
rs199559782 CA356259485	94	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA2853099 rs765351022	94	N>S		No	ClinGen ExAC TOPMed gnomAD
rs765351022 CA356259476	94	N>T		No	ClinGen ExAC TOPMed gnomAD
CA2853100 rs138355370	95	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs138355370 CA356259500	95	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA356259517 rs1168594395	96	D>A		No	ClinGen gnomAD
rs1418816872 CA356259522	96	D>E		No	ClinGen gnomAD
rs781743967 CA2853106	98	R>P		No	ClinGen ExAC TOPMed gnomAD
rs781743967 CA2853105	98	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs757703530 CA2853104	98	R>W		No	ClinGen ExAC TOPMed gnomAD
CA356259553 rs1560291242	101	G>S		No	ClinGen Ensembl
TCGA novel	102	C>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1560291256 CA356259577	103	A>V		No	ClinGen Ensembl
TCGA novel	104	V>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs147337200 CA2853112	106	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs147337200 CA2853111	106	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs201998429 CA356259611	108	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs776676610 CA356259614	108	R>L		No	ClinGen ExAC TOPMed gnomAD
rs776676610 CA356259613	108	R>P		No	ClinGen ExAC TOPMed gnomAD
rs776676610 COSM1431503 CA2853116	108	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs201998429 CA2853115	108	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs989222820 CA92155007	110	E>G		No	ClinGen Ensembl
rs371002339 CA2853118	112	G>S		No	ClinGen ESP ExAC gnomAD
rs752913998 CA2853119	112	G>V		No	ClinGen ExAC gnomAD
rs575799072 CA2853121	114	V>A		No	ClinGen 1000Genomes ExAC gnomAD
rs763257822 CA2853120	114	V>M		No	ClinGen ExAC TOPMed gnomAD
CA2853123 COSM734406 rs751661493	115	R>C	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs375973206 CA2853124	115	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA356259678 rs375973206 COSM448272	115	R>P	Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA2853122 rs751661493	115	R>S		No	ClinGen ExAC TOPMed gnomAD
rs369755027 CA92155019	116	R>G		No	ClinGen ESP TOPMed gnomAD
rs1207920661 CA356259694	117	P>A		No	ClinGen TOPMed
rs1461342553 CA356259698	117	P>H		No	ClinGen gnomAD
TCGA novel	117	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA356259714 rs1163251477	118	C>*		No	ClinGen gnomAD
rs139335228 CA356259717	119	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs756367771 CA2853126	119	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs139335228 CA2853125	119	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA2853127 rs564816856	120	H>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2853128 rs564816856 COSM1202226	120	H>Y	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs374541995 CA2853129	121	I>N		No	ClinGen ESP ExAC gnomAD
rs143245050 CA2853131	122	C>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA2853133 rs376055281	123	E>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA2853135 rs759534840 CA2853134	123	E>D		No	ClinGen ExAC TOPMed gnomAD
CA2853132 rs376055281	123	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA2853136 rs775424096	124	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA2853137 rs762883332	124	G>V		No	ClinGen ExAC TOPMed gnomAD
rs115392829 CA356259780	126	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs115392829 CA2853139	126	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs144771851 CA2853138	126	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs370509889 CA2853140	127	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs1577110730 CA356259797	128	V>G		No	ClinGen Ensembl
CA356259792 rs1252956436	128	V>I		No	ClinGen TOPMed
rs767640376 CA2853141	129	C>F		No	ClinGen ExAC TOPMed gnomAD
CA2853142 rs767640376	129	C>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA2853143 rs35993494 VAR_047245	130	Q>L		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs35993494 CA356259812	130	Q>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs766936569 CA356259819	131	P>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs766936569 CA356259820	131	P>L		No	ClinGen ExAC TOPMed gnomAD
rs766936569 CA2853144	131	P>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs140044305 CA356259823	132	A>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA356259821 rs777352854	132	A>S		No	ClinGen ExAC TOPMed gnomAD
CA2853147 COSM3428725 rs777352854	132	A>T	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs140044305 CA2853148	132	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA356259827 rs1479345552	133	F>V		No	ClinGen Ensembl
CA2853150 rs529756948	134	D>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2853151 rs529756948	134	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs529756948 CA356259833	134	D>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs775620343 CA2853153	135	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA356259843 rs1348156146	135	A>V		No	ClinGen TOPMed gnomAD
rs1414161244 CA356259848	136	I>T		No	ClinGen gnomAD
CA356259854 rs1310468411	137	D>G		No	ClinGen TOPMed gnomAD
CA356259855 rs1310468411	137	D>V		No	ClinGen TOPMed gnomAD
CA356259860 rs1337359873	138	M>V		No	ClinGen gnomAD
rs749044371 CA2853154	139	A>V		No	ClinGen ExAC gnomAD
rs1033057410 CA92155061	140	W>C		No	ClinGen TOPMed gnomAD
CA2853156 rs774371415	142	Y>C		No	ClinGen ExAC gnomAD
rs957695474 CA92155064	142	Y>H		No	ClinGen Ensembl
rs762109079 CA2853157	143	F>L		No	ClinGen ExAC TOPMed gnomAD
CA2853158 rs767690202	144	L>F		No	ClinGen ExAC gnomAD
rs767690202 CA356259924	144	L>V		No	ClinGen ExAC gnomAD
CA92155072 rs969266509	145	D>G		No	ClinGen TOPMed
CA2853159 rs373912014	145	D>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs1020722645 CA356259954	146	C>*		No	ClinGen TOPMed gnomAD
rs1181573328 CA356259950	146	C>F		No	ClinGen TOPMed gnomAD
CA356259949 rs1181573328	146	C>S		No	ClinGen TOPMed gnomAD
rs760707463 CA2853160	147	H>Q		No	ClinGen ExAC gnomAD
rs377251041 CA2853161	148	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs548280216 CA92155081 COSM1661265	148	R>H	kidney [Cosmic]	No	ClinGen cosmic curated 1000Genomes gnomAD
rs377251041 CA92155079	148	R>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs570276607 CA2853162	151	T>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2853163 rs148934306	151	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs148934306 CA2853164	151	T>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	153	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs868300405 CA92155088	154	D>N		No	ClinGen Ensembl
rs866714178 CA92155091	155	E>*		No	ClinGen gnomAD
rs866714178 CA356260074	155	E>K		No	ClinGen gnomAD
rs1236843311 CA356260096	156	G>D		No	ClinGen gnomAD
rs1347298506 CA356260103	157	C>R		No	ClinGen gnomAD
CA356260116 rs1231203661	158	Y>C		No	ClinGen gnomAD
CA356260117 rs1231203661	158	Y>F		No	ClinGen gnomAD
CA356260126 rs1253106274	159	D>N		No	ClinGen gnomAD
CA2853166 rs200604447	160	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1236800172 CA356260161	162	E>K		No	ClinGen gnomAD
rs1486704306 CA356260185	164	L>I		No	ClinGen gnomAD
CA2853169 rs755709351	165	R>L		No	ClinGen ExAC TOPMed gnomAD
rs755709351 CA356260191	165	R>P		No	ClinGen ExAC TOPMed gnomAD
rs755709351 CA92155099	165	R>Q		No	ClinGen ExAC TOPMed gnomAD
RCV000736116 CA2853168 rs375633720	165	R>W		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs1577110884 CA356260195	166	G>*		No	ClinGen Ensembl
rs760391178 CA2853206	166	G>V		No	ClinGen ExAC gnomAD
rs1279761468 CA356260504	168	L>R		No	ClinGen gnomAD
rs1577112970 CA356260515	169	E>G		No	ClinGen Ensembl
rs1260336621 CA356260506	169	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA356260533 rs1577112979	171	D>A		No	ClinGen Ensembl
rs146764659 CA356260537	171	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA356260541 rs1421806312	172	E>G		No	ClinGen gnomAD
rs1476151079 CA549710358	172	E>G		No	ClinGen gnomAD
rs554035587 CA92158784	172	E>K		No	ClinGen Ensembl
rs754582163 CA2853209	173	A>T		No	ClinGen ExAC gnomAD
rs201436389 CA2853212	174	L>M		No	ClinGen 1000Genomes ExAC gnomAD
rs140379391 CA92158814	175	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs140379391 CA2853214	175	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs149934510 CA2853218	179	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs149934510 CA2853219	179	P>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA356260638 rs1317154477	180	P>H		No	ClinGen gnomAD
CA356260642 rs1317154477	180	P>L		No	ClinGen gnomAD
rs1317154477 CA356260640	180	P>R		No	ClinGen gnomAD
rs769264041 CA2853222	180	P>T		No	ClinGen ExAC gnomAD
COSM1328362 CA2853223 rs774853158	181	T>I	ovary [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1577113037 CA356260644	181	T>P		No	ClinGen Ensembl
rs939477652 CA92158846	183	I>M		No	ClinGen TOPMed
rs1283340078 CA356260679	183	I>T		No	ClinGen gnomAD
CA2853225 COSM1431504 rs149059553	184	R>C	Variant assessed as Somatic; 0.0001443 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA2853226 rs149059553	184	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA2853227 rs376798665	184	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs376798665 CA356260690	184	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1482214222 CA356260697	185	F>V		No	ClinGen TOPMed gnomAD
rs143102662 CA92158863	187	H>L		No	ClinGen ESP
rs1439325252 CA356260723	187	H>Q		No	ClinGen gnomAD
CA356260713 rs1408372279	187	H>Y		No	ClinGen gnomAD
CA356260735 rs752620603	188	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs1271674992 CA356260741	189	S>P		No	ClinGen TOPMed
rs537441827 CA356260761	190	Y>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs965536976 CA92158871	190	Y>C		No	ClinGen gnomAD
rs764081558 CA356260765	191	A>S		No	ClinGen ExAC TOPMed gnomAD
rs764081558 CA2853231	191	A>T		No	ClinGen ExAC TOPMed gnomAD
CA356260797 CA2853232 rs751336888	193	M>I		No	ClinGen ExAC TOPMed gnomAD
rs757068985 CA2853233	194	V>M		No	ClinGen ExAC gnomAD
rs781355299 CA2853234	195	R>C		No	ClinGen ExAC TOPMed gnomAD
rs148218370 CA2853235	195	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2853236 rs148218370	195	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA356260805 rs781355299	195	R>S		No	ClinGen ExAC TOPMed gnomAD
CA356260820 rs1388759972	196	V>A		No	ClinGen TOPMed
rs1445653835 CA356260817	196	V>M		No	ClinGen gnomAD
rs199580862 CA2853238	199	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs141164374 CA2853237	199	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs373915315 CA2853240	200	T>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs373915315 CA2853239	200	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs373184056 CA2853243	201	A>D		No	ClinGen ESP ExAC gnomAD
CA2853242 rs772593951	201	A>T		No	ClinGen ExAC TOPMed gnomAD
rs373184056 CA356260872	201	A>V		No	ClinGen ESP ExAC gnomAD
rs759121729 CA2853244	203	R>C		No	ClinGen ExAC TOPMed gnomAD
CA2853246 COSM116198 rs376200702	203	R>H	ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA2853247 rs376200702	203	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs759121729 CA2853245	203	R>S		No	ClinGen ExAC TOPMed gnomAD
CA356260895 rs1255160394	204	C>R		No	ClinGen gnomAD
CA356260900 rs1454835705	204	C>Y		No	ClinGen gnomAD
CA356260916 rs1423067027	205	A>V		No	ClinGen gnomAD
rs112582888 CA356260937	206	H>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA356260928 rs1412192144	206	H>Y		No	ClinGen gnomAD
CA356260948 rs1246006709	207	V>A		No	ClinGen gnomAD
rs1400083826 CA356260940	207	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA92158996 rs555879536	210	T>I		No	ClinGen gnomAD
CA356260972 rs1213394658	210	T>S		No	ClinGen TOPMed
rs750291883 CA356260991	211	Y>*		No	ClinGen ExAC gnomAD
rs143281934 CA2853253	212	S>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs749305362 CA2853255 CA356261026	214	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA2853256 rs138247159	215	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA356261037 rs779520052	215	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA2853257 rs779520052	215	R>P		No	ClinGen ExAC TOPMed gnomAD
rs1198416310 CA356261048 COSM3409595	216	S>N	Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs1409315732 CA356261051	216	S>R		No	ClinGen TOPMed
rs28421391 CA2853259	218	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1476418034 CA356261073	218	D>H		No	ClinGen TOPMed gnomAD
rs1476418034 CA356261071	218	D>N		No	ClinGen TOPMed gnomAD
rs1477102347 COSM1431506 CA356261094	219	G>D	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA92159036 rs139002359	219	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2853261 rs139002359	219	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs1325489919 CA356261099	220	R>W		No	ClinGen gnomAD
CA356261129 rs1395593250	222	L>P		No	ClinGen gnomAD
CA2853262 rs769297084	223	L>P		No	ClinGen ExAC gnomAD
CA92159106 rs765578448	225	I>F		No	ClinGen TOPMed gnomAD
RCV000956178 CA2853264 rs140673461	225	I>M		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1216648538 CA356261175	226	E>D		No	ClinGen gnomAD
rs768161526 CA2853266	226	E>K		No	ClinGen ExAC TOPMed gnomAD
rs768161526 CA2853267	226	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA2853268 rs761726949	227	F>L		No	ClinGen ExAC TOPMed gnomAD
rs1375180937 CA356261209	229	S>I		No	ClinGen TOPMed
rs566311744 CA2853269	230	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs750155258 CA2853270	230	R>H		No	ClinGen ExAC gnomAD
CA356261220 rs566311744	230	R>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA92159143 rs866846974	231	P>H		No	ClinGen gnomAD
CA356261232 rs866846974	231	P>L		No	ClinGen gnomAD
CA356261229 rs1216620449	231	P>S		No	ClinGen gnomAD
CA2853272 rs556638204	232	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1419107403 CA356261250	233	Q>E		No	ClinGen gnomAD
CA356261264 rs1432288426	234	H>D		No	ClinGen TOPMed
CA2853273 rs753008564	234	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA92159170 rs747532182	235	E>D		No	ClinGen TOPMed
rs1411209507 CA356261277	235	E>K		No	ClinGen gnomAD
rs779144602 CA2853275	236	L>M		No	ClinGen ExAC
TCGA novel	237	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1298279792 CA356261301	237	M>V		No	ClinGen gnomAD
rs1432071293 CA356261688	238	E>K		No	ClinGen gnomAD
CA92161756 rs368230336	239	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA356261697 rs1325303092	239	P>L		No	ClinGen TOPMed
CA2853316 rs368230336	239	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs767950121 CA2853320	240	E>G		No	ClinGen ExAC gnomAD
CA2853319 rs751651131	240	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs751651131 CA2853318	240	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA2853321 rs372598897	241	V>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs1463263913 CA356261704	241	V>M		No	ClinGen gnomAD
CA356261759 rs1390155292	243	L>R		No	ClinGen gnomAD
CA2853323 rs568731713	244	I>N		No	ClinGen 1000Genomes ExAC gnomAD
CA92161789 rs994823305	244	I>V		No	ClinGen TOPMed
rs1218495146 CA356261781	245	G>D		No	ClinGen gnomAD
CA2853325 rs757789357	245	G>S		No	ClinGen ExAC TOPMed gnomAD
rs763925136 CA92161805	246	N>H		No	ClinGen Ensembl
rs770867346 CA2853329	247	I>F		No	ClinGen ExAC TOPMed gnomAD
rs776755903 CA2853330	247	I>T		No	ClinGen ExAC gnomAD
CA356261813 rs770867346	247	I>V		No	ClinGen ExAC TOPMed gnomAD
CA2853331 rs202043630	248	H>P		No	ClinGen ExAC
rs1207575548 CA356261851	249	G>V		No	ClinGen TOPMed gnomAD
rs1222034107 CA356261856	250	N>D		No	ClinGen TOPMed
rs115075586 CA2853334	250	N>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA356261870 rs202092274	251	E>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA356261873 rs1421271412	251	E>G		No	ClinGen gnomAD
CA2853336 rs202092274	251	E>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2853337 rs761850280	252	V>M		No	ClinGen ExAC gnomAD
CA2853338 rs768021205	253	A>S		No	ClinGen ExAC TOPMed gnomAD
COSM149639 rs555501833 CA2853339	253	A>V	stomach [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs1343102540 CA356261903	254	G>C		No	ClinGen TOPMed
CA2853342 rs766742485	255	R>G		No	ClinGen ExAC TOPMed gnomAD
CA2853344 rs758061741	255	R>L		No	ClinGen ExAC TOPMed gnomAD
CA2853343 rs758061741	255	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs766742485 CA2853341	255	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA2853346 rs146292135	256	E>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA2853347 rs781211829 CA356261951	257	M>I		No	ClinGen ExAC TOPMed gnomAD
rs745815864 CA2853348	258	L>F		No	ClinGen ExAC TOPMed gnomAD
CA356261955 rs745815864	258	L>V		No	ClinGen ExAC TOPMed gnomAD
CA2853349 rs769914468 COSM448274	259	I>M	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA356261960 rs1560294761	259	I>V		No	ClinGen Ensembl
rs779994546 CA2853350	261	L>P		No	ClinGen ExAC gnomAD
rs971507813 CA356261974	261	L>V		No	ClinGen TOPMed gnomAD
rs768902033 CA356261981	262	A>G		No	ClinGen ExAC TOPMed gnomAD
rs1353770385 CA356261977	262	A>T		No	ClinGen gnomAD
rs768902033 CA2853352	262	A>V		No	ClinGen ExAC TOPMed gnomAD
CA356261984 rs1179389965	263	Q>*		No	ClinGen TOPMed
CA2853355 rs139418095 RCV000881005	263	Q>R		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA356261998 rs761156679	265	L>V		No	ClinGen ExAC TOPMed gnomAD
CA2853359 rs766938315	266	C>*		No	ClinGen ExAC gnomAD
rs1156888276 CA356262011	267	S>A		No	ClinGen gnomAD
CA356262013 rs1361431471	267	S>C		No	ClinGen TOPMed gnomAD
rs759863980 CA2853361	268	E>K		No	ClinGen ExAC gnomAD
rs759863980 CA356262015	268	E>Q		No	ClinGen ExAC gnomAD
CA356262028 rs1393974833	269	Y>*		No	ClinGen gnomAD
rs974513776 CA92162061	270	L>V		No	ClinGen TOPMed
rs1377129875 CA356262034	271	L>I		No	ClinGen gnomAD
CA2853363 rs202018268	272	G>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2853364 rs202018268	272	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA356262047 rs1577115528	273	N>T		No	ClinGen Ensembl
CA2853368 rs753279964	274	P>A		No	ClinGen ExAC gnomAD
CA2853366 rs753279964	274	P>S	Variant assessed as Somatic; 9.241e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs140850654 CA2853370	275	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2853369 rs140850654	275	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM1431508 CA2853372 rs749063388	275	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA2853371 rs140850654	275	R>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1455078680 CA356262058	276	I>L		No	ClinGen TOPMed
rs1455078680 CA356262059	276	I>V		No	ClinGen TOPMed
CA2853374 rs779123601	277	Q>E		No	ClinGen ExAC gnomAD
CA2853376 rs149715542	278	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2853377 rs773276230	278	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA2853380 rs147806032	281	N>T		No	ClinGen ExAC TOPMed gnomAD
CA2853379 rs760780373	281	N>Y		No	ClinGen ExAC TOPMed gnomAD
CA356262094 rs1459898578	282	T>A		No	ClinGen TOPMed
rs141203560 CA2853384	284	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA356262106 rs141203560	284	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs753166608 CA2853385 COSM180105	284	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs753166608 CA92162211	284	R>L		No	ClinGen ExAC TOPMed gnomAD
rs753166608 CA356262107	284	R>P		No	ClinGen ExAC TOPMed gnomAD
CA92162231 rs899233139	285	I>M		No	ClinGen Ensembl
CA92162225 rs1039244233	285	I>V		No	ClinGen Ensembl
CA2853388 rs749931394	289	P>L		No	ClinGen ExAC gnomAD
rs755709105 CA2853389	290	S>F		No	ClinGen ExAC gnomAD
CA356262147 rs1560294949	291	M>I		No	ClinGen Ensembl
CA2853390 rs780101270	291	M>R		No	ClinGen ExAC TOPMed gnomAD
rs891446611 CA92162249	292	N>K		No	ClinGen TOPMed gnomAD
rs1577115605 CA356262152	292	N>T		No	ClinGen Ensembl
rs550379055 CA2853391	293	P>L		No	ClinGen ExAC TOPMed gnomAD
rs546825512 CA356262167	294	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1478377994 CA356262165	294	D>G		No	ClinGen gnomAD
CA92162286 rs1045936412	295	G>D		No	ClinGen TOPMed gnomAD
rs778557300 CA2853393	295	G>R		No	ClinGen ExAC TOPMed gnomAD
CA356262169 rs778557300 COSM1661266	295	G>S	kidney Variant assessed as Somatic; 9.273e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs748041253 CA2853394	298	V>A		No	ClinGen ExAC gnomAD
rs375327541 CA92162294	299	A>V		No	ClinGen ESP gnomAD
CA356262212 rs1464834750	300	A>V		No	ClinGen gnomAD
CA356262223 rs1386134483	301	A>T		No	ClinGen TOPMed
rs771026226 CA2853398	302	E>K		No	ClinGen ExAC gnomAD
rs763887399 CA2853430	303	G>C		No	ClinGen ExAC gnomAD
rs1285330922 CA356262329	304	A>V		No	ClinGen gnomAD
rs757392661 CA2853432	305	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA356262341 rs1448038851 CA356262342	306	Y>*		No	ClinGen TOPMed gnomAD
rs1256202347 CA356262340	306	Y>C		No	ClinGen TOPMed
rs781530414 CA2853433	307	N>S		No	ClinGen ExAC TOPMed gnomAD
CA356262351 rs1560295408	308	G>R		No	ClinGen Ensembl
rs1577116362 CA356262358	309	W>G		No	ClinGen Ensembl
CA2853435 rs756249040	310	T>A		No	ClinGen ExAC TOPMed gnomAD
rs780359404 CA2853436	310	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA2853438 CA2853439 rs749829009	311	S>R		No	ClinGen ExAC TOPMed gnomAD
CA356262379 rs748562079	312	G>E		No	ClinGen ExAC TOPMed gnomAD
CA356262375 rs1379143830	312	G>R		No	ClinGen gnomAD
rs748562079 CA2853440 COSM588678	312	G>V	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA92163593 rs1026682011	314	Q>*		No	ClinGen TOPMed gnomAD
CA356262390 rs1334396877	314	Q>R		No	ClinGen TOPMed gnomAD
CA2853441 rs199906050	315	N>K		No	ClinGen 1000Genomes ExAC gnomAD
COSM173275 rs776364810 CA2853442	316	A>T	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs983032914 CA92163631	316	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA2853444 rs146935182	317	Q>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2853445 rs146935182	317	Q>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs201140095 CA2853446	317	Q>R		No	ClinGen 1000Genomes ExAC gnomAD
rs200412441 CA2853448	318	N>K		No	ClinGen 1000Genomes ExAC gnomAD
CA2853447 rs764061214	318	N>S		No	ClinGen ExAC gnomAD
rs761694641 CA2853449	319	L>P		No	ClinGen ExAC TOPMed gnomAD
CA356262418 rs761694641	319	L>Q		No	ClinGen ExAC TOPMed gnomAD
CA356262423 rs1265189318	320	D>A		No	ClinGen TOPMed
CA356262425 rs1265189318	320	D>V		No	ClinGen TOPMed
CA356262422 rs1202184110	320	D>Y		No	ClinGen gnomAD
rs1560295468 CA356262440	322	N>K		No	ClinGen Ensembl
CA356262443 rs538634471	323	R>L		No	ClinGen gnomAD
rs538634471 CA92163686	323	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs767594301 CA2853450	325	F>C		No	ClinGen ExAC gnomAD
CA356262459 rs1208311594	325	F>L		No	ClinGen TOPMed
rs1023794499 CA356262463	326	P>L		No	ClinGen TOPMed gnomAD
rs1023794499 CA92163710	326	P>R		No	ClinGen TOPMed gnomAD
CA356262461 rs750663941	326	P>S		No	ClinGen ExAC TOPMed gnomAD
CA2853451 rs750663941	326	P>T		No	ClinGen ExAC TOPMed gnomAD
rs1378159663 CA356262469	327	D>V		No	ClinGen gnomAD
CA2853453 rs780269196	328	L>M		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	328	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs377478120 CA2853455	329	T>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs377478120 CA2853454	329	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA356262485 rs1330908410	330	S>F		No	ClinGen gnomAD
CA356262487 rs780639349	331	E>*		No	ClinGen ExAC gnomAD
CA2853460 rs745545326	331	E>A		No	ClinGen ExAC gnomAD
CA2853459 rs780639349	331	E>Q		No	ClinGen ExAC gnomAD
CA2853461 rs769387403	332	Y>N		No	ClinGen ExAC gnomAD
rs149008174 CA356262505	333	Y>*		No	ClinGen ESP TOPMed gnomAD
rs989941657 CA92163784	333	Y>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1222217204 CA356262500	333	Y>H		No	ClinGen gnomAD
rs774952136 CA2853464	334	R>G		No	ClinGen ExAC TOPMed gnomAD
rs183698544 CA2853466	334	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2853463 rs774952136	334	R>W		No	ClinGen ExAC TOPMed gnomAD
CA356262516 rs750245366	336	A>E		No	ClinGen ExAC TOPMed gnomAD
CA2853469 rs750245366	336	A>G		No	ClinGen ExAC TOPMed gnomAD
CA356262517 rs750245366	336	A>V		No	ClinGen ExAC TOPMed gnomAD
CA2853470 rs760945341	337	E>G		No	ClinGen ExAC gnomAD
CA356262521 rs1197175015	337	E>Q		No	ClinGen gnomAD
CA2853471 rs766745681	338	T>I		No	ClinGen ExAC TOPMed gnomAD
rs766745681 CA92163831	338	T>N		No	ClinGen ExAC TOPMed gnomAD
CA356262538 rs1445263828	338	T>P		No	ClinGen TOPMed
CA356262542 rs1445263828	338	T>S		No	ClinGen TOPMed
CA92163839 rs766745681	338	T>S		No	ClinGen ExAC TOPMed gnomAD
CA2853473 rs200376379	339	R>C		No	ClinGen ExAC TOPMed gnomAD
CA92163847 rs368933993 COSM3784429	339	R>H	Variant assessed as Somatic; 0.0 impact. pancreas [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA2853474 rs368933993	339	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	340	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2853476 rs201029859	340	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1577116541 CA356262590	340	G>V		No	ClinGen Ensembl
CA356262598 rs1246589355	341	A>E		No	ClinGen TOPMed
CA2853478 rs559753840	341	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA92163881 rs559753840	341	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs755742622 CA2853479 COSM169830	342	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA356262609 rs755742622	342	R>G		No	ClinGen ExAC TOPMed gnomAD
rs148162472 CA2853480	342	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA356262619 rs1395003434	343	S>G		No	ClinGen TOPMed
CA92163909 rs141960829	343	S>N		No	ClinGen ESP
CA92163929 rs886877058	344	D>N		No	ClinGen TOPMed
rs768163436 CA2853482	346	I>V		No	ClinGen ExAC gnomAD
rs748106609 CA2853484	347	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1012682979 CA356262725	348	I>M		No	ClinGen TOPMed gnomAD
CA356262719 rs1488542181	348	I>V		No	ClinGen gnomAD
CA2853486 rs773026439	349	P>A		No	ClinGen ExAC gnomAD
rs1013832884 CA92163981	349	P>L		No	ClinGen Ensembl
rs1185496211 CA356262742	350	Q>E		No	ClinGen TOPMed
rs888118523 CA92163985	350	Q>R		No	ClinGen TOPMed gnomAD
rs760432603 CA2853487	351	H>D		No	ClinGen ExAC gnomAD
rs766655988 CA2853488	351	H>R		No	ClinGen ExAC gnomAD
CA2853490 rs777020112	352	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs777020112 CA2853489	352	Y>F		No	ClinGen ExAC TOPMed gnomAD
CA356262822 rs1361752030	353	W>*		No	ClinGen gnomAD
CA92164000 rs1015264035	353	W>*		No	ClinGen TOPMed
rs149186746 CA92164008	354	W>*		No	ClinGen 1000Genomes TOPMed gnomAD
rs531394795 CA2853493	354	W>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs531394795 CA2853494	354	W>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2853491 rs1553877082	354	W>G		No	ClinGen Ensembl
CA2853495 rs758937308	355	G>C		No	ClinGen ExAC gnomAD
CA2853496 rs758937308	355	G>R		No	ClinGen ExAC gnomAD
rs1297215470 CA356262884	356	K>N		No	ClinGen TOPMed
rs1577117086 CA356263034	357	V>G		No	ClinGen Ensembl
rs1171773082 CA356263039	358	A>T		No	ClinGen gnomAD
CA2853542 rs376732104	359	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA2853541 rs569997837	359	P>S		No	ClinGen 1000Genomes ExAC gnomAD
rs1374048648 CA356263072	360	E>A		No	ClinGen TOPMed
rs745619644 CA2853544	360	E>K		No	ClinGen ExAC gnomAD
rs769481357 CA356263089	361	T>A		No	ClinGen ExAC TOPMed gnomAD
rs780265772 CA2853546	361	T>I		No	ClinGen ExAC gnomAD
rs769481357 CA2853545	361	T>S		No	ClinGen ExAC TOPMed gnomAD
CA356263127 rs768992436	363	A>S		No	ClinGen ExAC TOPMed gnomAD
CA2853548 rs768992436	363	A>T		No	ClinGen ExAC TOPMed gnomAD
rs537180657 CA2853549	363	A>V		No	ClinGen 1000Genomes ExAC gnomAD
CA2853550 rs748278819	364	I>V		No	ClinGen ExAC TOPMed gnomAD
CA356263154 rs1292174877	365	M>L		No	ClinGen TOPMed gnomAD
CA356263164 rs1322368707	365	M>R		No	ClinGen gnomAD
CA356263155 rs1292174877	365	M>V		No	ClinGen TOPMed gnomAD
rs772516941 CA2853551	366	K>E		No	ClinGen ExAC gnomAD
CA2853553 rs761030283	367	W>C		No	ClinGen ExAC gnomAD
rs1290246381 CA356263176	367	W>R		No	ClinGen gnomAD
CA92165091 rs866318508	368	M>I		No	ClinGen Ensembl
CA2853554 rs766662888	368	M>T		No	ClinGen ExAC gnomAD
rs1417207302 CA356263185	368	M>V		No	ClinGen TOPMed gnomAD
rs1474911876 CA356263196	369	Q>H		No	ClinGen TOPMed gnomAD
rs761158013 CA92165099	369	Q>R		No	ClinGen TOPMed gnomAD
CA92165105 rs753825431	370	T>I		No	ClinGen ExAC TOPMed gnomAD
CA2853555 rs753825431	370	T>S		No	ClinGen ExAC TOPMed gnomAD
rs762508406 CA2853556	371	I>T		No	ClinGen ExAC TOPMed gnomAD
rs866353388 CA92165119	372	P>L		No	ClinGen Ensembl
CA356263209 rs371681610	372	P>S		No	ClinGen gnomAD
rs371681610 CA92165117	372	P>T		No	ClinGen gnomAD
CA356263213 rs1311423687	373	F>L		No	ClinGen TOPMed
CA2853559 rs756861411	375	L>F		No	ClinGen ExAC gnomAD
rs199933402 CA2853560	377	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1054413383 CA92165206	380	H>R		No	ClinGen Ensembl
rs750399515 CA2853562	380	H>Y		No	ClinGen ExAC gnomAD
CA2853563 CA2853564 rs141998267	381	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA92165231 rs945517763	382	G>A		No	ClinGen Ensembl
CA92165217 rs933754191	382	G>S		No	ClinGen TOPMed
rs773648711 CA2853570	383	D>E		No	ClinGen ExAC gnomAD
CA2853569 rs748182777	383	D>H		No	ClinGen ExAC TOPMed gnomAD
rs748182777 CA2853568	383	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA356263273 rs1206228537	383	D>V		No	ClinGen gnomAD
rs201916048 CA92165289	384	L>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs201916048 CA2853571	384	L>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1043935107 CA92165313	385	V>M		No	ClinGen TOPMed gnomAD
CA356263287 rs1577117253	386	V>G		No	ClinGen Ensembl
rs902695188 CA356263283	386	V>L		No	ClinGen TOPMed
CA92165318 rs902695188	386	V>M		No	ClinGen TOPMed
rs149559689 CA92165333	387	S>C		No	ClinGen ESP ExAC TOPMed
rs149559689 CA2853575	387	S>F		No	ClinGen ESP ExAC TOPMed
CA2853574 rs750620604	388	Y>*		No	ClinGen ExAC
CA2853577 rs780023309	388	Y>*		No	ClinGen ExAC TOPMed gnomAD
CA356263295 rs1577117272	388	Y>S		No	ClinGen Ensembl
CA2853578 rs776828782	389	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA2853580 rs144181545	391	D>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA2853581 rs144181545	391	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1456583666 CA356263338	394	K>N		No	ClinGen Ensembl
rs1015905646 CA92165426	394	K>Q		No	ClinGen gnomAD
rs1310014300 CA356263336	394	K>R		No	ClinGen TOPMed
CA2853584 rs750019859	395	H>D		No	ClinGen ExAC gnomAD
CA92165445 rs961343700	395	H>Q		No	ClinGen gnomAD
CA356263348 rs1279520878	396	P>R		No	ClinGen gnomAD
rs755978958 CA2853585	396	P>T		No	ClinGen ExAC gnomAD
CA2853589 rs542487579	397	Q>H		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	397	Q>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1313084590	397	Q>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA356263354 rs1264072971	397	Q>R		No	ClinGen gnomAD
COSM481637 CA356263360 rs1560296190	398	E>K	kidney Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated Ensembl NCI-TCGA
CA356263370 rs1202611725	399	E>G		No	ClinGen gnomAD
CA356263366 rs1560296195	399	E>K		No	ClinGen Ensembl
CA2853591 rs147815913	400	K>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs139569426 CA2853592	400	K>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs543182051 CA2853593	400	K>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA2853597 rs747152592	401	M>I		No	ClinGen ExAC gnomAD
rs1577117354 CA356263380	401	M>K		No	ClinGen Ensembl
CA2853594 rs777825637	401	M>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	401	M>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs777825637 CA2853596	401	M>V		No	ClinGen ExAC TOPMed gnomAD
CA2853598 rs771318613	402	F>L		No	ClinGen ExAC gnomAD
rs1424684180 CA356263388	402	F>Y		No	ClinGen TOPMed
CA549536918 rs1560296214	403	S>*		No	ClinGen Ensembl
CA2853599 rs781732929	403	S>F		No	ClinGen ExAC gnomAD
rs1174171647 CA356263400	404	P>H		No	ClinGen TOPMed gnomAD
rs1174171647 CA356263402	404	P>L		No	ClinGen TOPMed gnomAD
CA2853600 rs371735226	405	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA356263412 rs1402676168	406	P>L		No	ClinGen gnomAD
rs564983496 CA2853601	406	P>S		No	ClinGen 1000Genomes ExAC gnomAD
CA2853605 rs771894300	407	D>E		No	ClinGen ExAC TOPMed gnomAD
rs761554430 CA2853603	407	D>N		No	ClinGen ExAC TOPMed gnomAD
rs1439219430 CA356263421	408	E>G		No	ClinGen gnomAD
rs558061091 CA92165597	408	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs558061091 CA2853606	408	E>Q		No	ClinGen TOPMed
rs145082807 CA2853608	409	K>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1323235754 CA356263429	409	K>M		No	ClinGen TOPMed gnomAD
rs1323235754 CA356263427	409	K>T		No	ClinGen TOPMed gnomAD
rs199662042 CA2853671	410	M>I		No	ClinGen ExAC TOPMed gnomAD
rs1027714847 CA92082409	410	M>R		No	ClinGen gnomAD
rs1027714847 CA356252143	410	M>T		No	ClinGen gnomAD
CA2853672 rs773577674	411	F>L		No	ClinGen ExAC gnomAD
CA2853673 rs147588134	412	K>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1004915215 CA92082421	412	K>Q		No	ClinGen gnomAD
CA2853676 rs754034140	413	L>V		No	ClinGen ExAC TOPMed
CA356252191 rs1267192661	414	L>M		No	ClinGen gnomAD
rs550239888 CA2853678	414	L>P		No	ClinGen 1000Genomes ExAC
rs1187871282 CA356252206	415	S>P		No	ClinGen gnomAD
CA356252243 rs1419739265	417	A>V		No	ClinGen gnomAD
CA2853680 rs753055966	418	Y>S		No	ClinGen ExAC gnomAD
rs375155430 CA2853682	419	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA2853684 rs755832278	420	D>G		No	ClinGen ExAC gnomAD
rs368219391 CA2853686	421	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA92082472 rs979156450	422	H>R		No	ClinGen Ensembl
rs567073436 CA2853688	422	H>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2853689 rs747914067	423	P>L		No	ClinGen ExAC gnomAD
CA356252334 rs747914067	423	P>R		No	ClinGen ExAC gnomAD
CA356252344 rs1290089769	424	M>I		No	ClinGen gnomAD
rs773195281 CA2853691	424	M>R		No	ClinGen ExAC gnomAD
rs773195281 CA356252341	424	M>T		No	ClinGen ExAC gnomAD
CA2853692 rs760971351	425	M>V		No	ClinGen ExAC gnomAD
rs372498180 CA2853695	426	M>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs771315930 CA2853694	426	M>R		No	ClinGen ExAC TOPMed gnomAD
CA2853693 rs771315930	426	M>T		No	ClinGen ExAC TOPMed gnomAD
CA356252384 rs753149461	427	D>E		No	ClinGen ExAC gnomAD
CA2853696 rs765733915	427	D>Y		No	ClinGen ExAC gnomAD
rs764437902 CA2853699	428	R>S		No	ClinGen ExAC TOPMed gnomAD
rs763318512 CA2853698	428	R>T		No	ClinGen ExAC gnomAD
rs145418825 CA2853701	429	S>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA2853700 rs145418825	429	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs749630231 CA92082532	429	S>P		No	ClinGen Ensembl
TCGA novel	430	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1560300691 CA356252421	430	E>G		No	ClinGen Ensembl
CA2853703 rs555509172	431	N>Y		No	ClinGen 1000Genomes ExAC gnomAD
rs778856137 CA2853705	432	R>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA356252458 rs778856137	432	R>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs538387375 CA2853706	433	C>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA92082550 rs538387375	433	C>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs138915903 CA2853707	433	C>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs777676065 CA2853708	434	G>*		No	ClinGen ExAC TOPMed gnomAD
rs1353396884 CA356252495	434	G>A		No	ClinGen gnomAD
rs1027050472 CA92082593	435	G>D		No	ClinGen TOPMed
CA92082591 rs1052146104	435	G>S		No	ClinGen Ensembl
rs142138237 CA2853709	436	N>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs771225809 CA2853710	436	N>S		No	ClinGen ExAC gnomAD
rs776748971 CA2853711	438	L>M		No	ClinGen ExAC
CA2853712 rs759591858	440	R>G		No	ClinGen ExAC TOPMed gnomAD
rs1182394393 CA356252548	440	R>K		No	ClinGen gnomAD
rs763337609 CA2853716	441	G>E		No	ClinGen ExAC TOPMed gnomAD
CA356252554 rs775707132	441	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs775707132 RCV000736117 CA2853715	441	G>W		No	ClinGen ClinVar ExAC dbSNP gnomAD
TCGA novel	442	S>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA356252569 rs1298730143	442	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1158986254 CA356252571	442	S>R		No	ClinGen gnomAD
CA356252564 rs1560300762	442	S>R		No	ClinGen Ensembl
CA356252578 rs1181600930	443	I>N		No	ClinGen TOPMed gnomAD
CA2853717 rs764636021	443	I>V		No	ClinGen ExAC gnomAD
CA356252589 rs1178888286	444	I>T		No	ClinGen gnomAD
CA2853721 rs753450192	445	N>S		No	ClinGen ExAC gnomAD
CA2853723 rs200669426	446	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA92082676 COSM734398 rs200017497	447	A>E	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA2853724 rs752287558	447	A>S		No	ClinGen ExAC gnomAD
CA2853725 rs200017497	447	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2853729 rs781417961	448	D>E		No	ClinGen ExAC gnomAD
rs377693822 CA2853728	448	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA356252641 rs1199449613	449	W>*		No	ClinGen gnomAD
rs1275874201 CA356252644	449	W>*		No	ClinGen TOPMed gnomAD
rs1275874201 CA356252647	449	W>C		No	ClinGen TOPMed gnomAD
CA356252640 rs150608392	449	W>G		No	ClinGen ESP TOPMed gnomAD
rs150608392 CA92082707	449	W>R		No	ClinGen ESP TOPMed gnomAD
rs953262482 CA92082710	450	Y>C		No	ClinGen TOPMed gnomAD
CA356252656 rs953262482	450	Y>F		No	ClinGen TOPMed gnomAD
CA356252652 rs1439538859	450	Y>N		No	ClinGen gnomAD
CA356252669 rs1471499810	451	S>I		No	ClinGen gnomAD
rs746063733 CA2853730	452	F>S		No	ClinGen ExAC gnomAD
rs770096765 CA2853731	453	T>A		No	ClinGen ExAC gnomAD
rs540505939 CA2853732	453	T>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs540505939 CA2853733	453	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA92082731 rs1049124519	454	G>A		No	ClinGen TOPMed gnomAD
CA356252690 rs1049124519	454	G>E		No	ClinGen TOPMed gnomAD
rs1398700880 CA356252687	454	G>R		No	ClinGen gnomAD
rs774847553 CA2853735	455	G>C		No	ClinGen ExAC TOPMed gnomAD
rs1246374820 CA356253279	455	G>D		No	ClinGen TOPMed gnomAD
rs774847553 CA356252694	455	G>S		No	ClinGen ExAC TOPMed gnomAD
rs758507862 CA2853819	456	M>I		No	ClinGen ExAC gnomAD
rs1031658743 CA92085541	456	M>L		No	ClinGen TOPMed gnomAD
CA356253287 rs1256072597	456	M>T		No	ClinGen gnomAD
rs1131140 CA356253310 CA356253311	458	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs374417878 CA2853821	458	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs374417878 CA356253305	458	D>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs1385929040 CA356253323	459	F>L		No	ClinGen gnomAD
rs201725083 CA2853823	461	Y>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1203999378 CA356253355	462	L>Q		No	ClinGen TOPMed
rs768384480 CA2853825	462	L>V		No	ClinGen ExAC gnomAD
rs774151966 CA2853826	463	H>R		No	ClinGen ExAC gnomAD
rs964905404 CA92085593	464	T>I		No	ClinGen Ensembl
CA92085601 rs752919016	465	N>D		No	ClinGen Ensembl
CA356253385 rs1348203343	465	N>K		No	ClinGen TOPMed
CA356253392 rs1336157623	466	C>S		No	ClinGen gnomAD
TCGA novel rs368340155 CA2853828	468	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ESP ExAC gnomAD NCI-TCGA
CA356253415 rs1227500426	468	E>Q		No	ClinGen gnomAD
rs1577127325 CA356253431	469	I>N		No	ClinGen Ensembl
CA2853830 rs200319624	470	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA356253443 rs200319624	470	T>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs368908052 CA2853832	471	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs368908052 CA356253447	471	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1306330224 CA356253470	473	L>V		No	ClinGen TOPMed
rs759353787 CA356253479	474	G>C		No	ClinGen ExAC gnomAD
rs759353787 CA2853834	474	G>R		No	ClinGen ExAC gnomAD
rs759353787 CA2853833	474	G>S		No	ClinGen ExAC gnomAD
rs1180382462 CA356253507	476	V>G		No	ClinGen gnomAD
CA356253521 rs1470742159	477	K>N		No	ClinGen gnomAD
rs141065142 CA2853836	478	F>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2853835 rs141065142	478	F>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs145227034 CA2853840	478	F>L		No	ClinGen ESP ExAC gnomAD
CA2853839 rs764228267 COSM3393036	478	F>S	pancreas [Cosmic]	No	ClinGen cosmic curated ExAC
rs201159124 CA92085675	479	P>R		No	ClinGen Ensembl
CA356253539 rs1464066330	479	P>T		No	ClinGen gnomAD
rs144878756 CA2853841	480	P>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2853844 rs546238084	480	P>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2853843 rs546238084	480	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2853845 rs546238084	480	P>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs144878756 CA356253547	480	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs144878756 CA2853842	480	P>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs148630400 CA92085740	481	E>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs148630400 CA2853849	481	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA2853850 rs771666220	482	E>*		No	ClinGen ExAC gnomAD
CA2853851 rs771666220	482	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA2853852 rs561450664	483	A>T		No	ClinGen 1000Genomes ExAC gnomAD
VAR_047246 CA2853854 rs7378066	486	I>T		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA356253615 rs1252408636	487	L>F		No	ClinGen gnomAD
CA2853855 rs201020834	487	L>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA356253617 rs201020834	487	L>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA356253625 rs1446169605	488	W>*		No	ClinGen TOPMed
rs1271484893 CA356253632	488	W>C		No	ClinGen gnomAD
rs201714885 CA2853856	488	W>R		No	ClinGen ExAC TOPMed gnomAD
rs1435042662 CA356253640	489	Q>R		No	ClinGen gnomAD
CA356253656 rs1458729131	490	H>P		No	ClinGen TOPMed
rs1423984393 CA356253658	490	H>Q		No	ClinGen TOPMed gnomAD
CA92085827 rs896028097	491	N>H		No	ClinGen Ensembl
CA356253671 rs1430957278	491	N>K		No	ClinGen TOPMed gnomAD
rs1415347663 CA356253675	492	K>E		No	ClinGen TOPMed
CA356253686 rs1371154614	492	K>N		No	ClinGen TOPMed gnomAD
rs1305997154 CA356253696	493	E>D		No	ClinGen gnomAD
CA2853859 rs374144088	493	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	494	S>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA356253700 rs763202572	494	S>A		No	ClinGen ExAC gnomAD
rs763202572 CA2853860	494	S>P		No	ClinGen ExAC gnomAD
rs1365671500 CA356253715	495	L>V		No	ClinGen TOPMed gnomAD
rs1342154102 CA356253731	497	N>D		No	ClinGen gnomAD
rs1226792892 CA356253749	498	F>C		No	ClinGen gnomAD
rs1290793281 CA356253742	498	F>I		No	ClinGen gnomAD
rs148255974 CA356253758 CA2853864	499	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2853865 COSM1753864 rs148255974	499	V>M	urinary_tract [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs756755100 COSM588676 CA2853866	500	E>D	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA356253770 rs1322394485	500	E>Q		No	ClinGen TOPMed
CA2853867 rs9991535 VAR_027884	501	T>M		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1413930528 CA356254533	502	V>A		No	ClinGen gnomAD
TCGA novel	503	H>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1577132173 CA356254541	503	H>P		No	ClinGen Ensembl
rs755592656 CA2853915	503	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA92093926 rs139176210	504	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2853917 rs139176210	504	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs777229492 CA2853916	504	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	505	G>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs368940436 CA2853919	505	G>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA356254558 rs1475325023	505	G>D		No	ClinGen TOPMed
TCGA novel	506	I>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA356254562 rs1472282969	506	I>V		No	ClinGen gnomAD
rs1378586312 CA356254574	507	K>*		No	ClinGen TOPMed
CA356254579 rs928497561	507	K>N		No	ClinGen TOPMed gnomAD
CA2853920 rs146874641 COSM1058402	507	K>R	endometrium [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA2853922 rs773577724	508	G>A		No	ClinGen ExAC TOPMed gnomAD
rs773577724 CA92093949	508	G>D		No	ClinGen ExAC TOPMed gnomAD
CA2853921 rs772375957	508	G>S		No	ClinGen ExAC gnomAD
CA356254587 rs773577724	508	G>V		No	ClinGen ExAC TOPMed gnomAD
CA2853925 rs776840457	509	V>G		No	ClinGen ExAC gnomAD
CA2853924 rs770905791	509	V>M		No	ClinGen ExAC gnomAD
CA2853926 rs759931672	510	V>A		No	ClinGen ExAC TOPMed gnomAD
rs1205694329 CA356254600	510	V>L		No	ClinGen TOPMed gnomAD
rs1205694329 CA356254598	510	V>M		No	ClinGen TOPMed gnomAD
CA356254614 rs1284995049	511	T>R		No	ClinGen TOPMed
CA356254618 rs765823979	512	D>H		No	ClinGen ExAC TOPMed gnomAD
CA2853927 rs765823979	512	D>N		No	ClinGen ExAC TOPMed gnomAD
CA2853930 rs767098162	514	F>C		No	ClinGen ExAC gnomAD
rs140681534 CA2853928	514	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA92094041 rs1804806	514	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA2853929 rs140681534	514	F>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA356254646 rs767098162	514	F>Y		No	ClinGen ExAC gnomAD
CA2853933 rs138232433	515	G>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs754820404 CA2853935	515	G>D		No	ClinGen ExAC TOPMed gnomAD
rs138232433 CA2853934	515	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
COSM448276 rs138232433 CA2853932	515	G>S	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA2853939 rs199625164	517	P>A		No	ClinGen TOPMed gnomAD
CA356254680 rs1179097286	517	P>R		No	ClinGen TOPMed
CA2853938 rs199625164	517	P>T		No	ClinGen TOPMed gnomAD
rs371380953 CA356254684	518	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs371380953 CA2853941	518	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA356254708 rs1325149037	520	N>D		No	ClinGen gnomAD
TCGA novel	520	N>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2853945 rs776552997	521	A>G		No	ClinGen ExAC gnomAD
rs755623406 CA92094157	521	A>P		No	ClinGen ExAC TOPMed gnomAD
CA2853944 rs755623406	521	A>T		No	ClinGen ExAC TOPMed gnomAD
CA2853946 rs776552997	521	A>V		No	ClinGen ExAC gnomAD
rs775980838 CA356254732	522	R>P		No	ClinGen ExAC TOPMed gnomAD
COSM3784430 rs775980838 CA2853948	522	R>Q	pancreas [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs770247144 CA2853947	522	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1288975025 CA356254743	523	I>M		No	ClinGen TOPMed
rs764437522 CA2853951	524	S>L		No	ClinGen ExAC gnomAD
rs1300021415 CA356254749	524	S>P		No	ClinGen gnomAD
rs774737155 CA2853952	525	V>D		No	ClinGen ExAC gnomAD
TCGA novel	525	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA356254757 rs1268333048	525	V>L		No	ClinGen gnomAD
CA2853954 rs766074511	526	K>T		No	ClinGen ExAC gnomAD
TCGA novel	527	G>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1388810189 CA356254784	527	G>D		No	ClinGen gnomAD
rs1168528299 CA356254778	527	G>S		No	ClinGen gnomAD
rs1164190173 CA356254791	528	I>F		No	ClinGen gnomAD
rs200918270 CA2853957	529	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs143243881 CA2853958	529	R>H		No	ClinGen 1000Genomes ESP TOPMed gnomAD
CA356254820 rs758480245	530	H>P		No	ClinGen ExAC gnomAD
CA2853962 rs758480245	530	H>R		No	ClinGen ExAC gnomAD
rs751421093 CA2853966	531	D>H		No	ClinGen ExAC TOPMed gnomAD
rs751421093 CA2853965	531	D>N		No	ClinGen ExAC TOPMed gnomAD
rs751421093 CA2853964	531	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs958439787 CA92094354	532	I>L		No	ClinGen TOPMed gnomAD
CA356254850 rs780173452	532	I>M		No	ClinGen ExAC TOPMed gnomAD
rs769850715 CA2853968	532	I>T		No	ClinGen ExAC gnomAD
rs1402986114 CA356254863	534	T>P		No	ClinGen TOPMed
rs749763091 CA2853970	534	T>R		No	ClinGen ExAC gnomAD
CA2854014 rs762284952	535	A>G		No	ClinGen ExAC gnomAD
CA92094384 rs988283384	535	A>T		No	ClinGen TOPMed
rs201449741 CA2854017	536	P>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs201449741 CA2854016	536	P>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1365872819 CA356255574	537	D>A		No	ClinGen TOPMed
CA356255570 rs1176080837	537	D>H		No	ClinGen gnomAD
rs767375503 CA2854020	538	G>A		No	ClinGen ExAC gnomAD
CA2854021 rs767375503	538	G>D		No	ClinGen ExAC gnomAD
CA2854019 rs761786826	538	G>S		No	ClinGen ExAC gnomAD
CA356255608 rs1408950957	539	D>E		No	ClinGen gnomAD
rs1577133259 CA356255599	539	D>N		No	ClinGen Ensembl
rs766527788 CA2854023	541	W>*		No	ClinGen ExAC gnomAD
rs754042885 CA356255634 CA2854024	541	W>C		No	ClinGen ExAC TOPMed gnomAD
rs1235397486 CA356255626	541	W>R		No	ClinGen TOPMed gnomAD
TCGA novel	542	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs201311801 CA2854025	542	R>K		No	ClinGen 1000Genomes ExAC gnomAD
CA2854029 rs779945396	545	P>A		No	ClinGen ExAC TOPMed gnomAD
rs778176673 CA356255666	545	P>H		No	ClinGen ExAC TOPMed gnomAD
rs778176673 CA2854030	545	P>L		No	ClinGen ExAC TOPMed gnomAD
CA356255674 rs1225014798	546	P>A		No	ClinGen TOPMed
TCGA novel	546	P>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA356255676 rs1225014798	546	P>S		No	ClinGen TOPMed
rs978234544 CA356255688	547	G>A		No	ClinGen TOPMed gnomAD
rs978234544 CA92095939	547	G>D		No	ClinGen TOPMed gnomAD
rs978234544 CA356255690	547	G>V		No	ClinGen TOPMed gnomAD
CA356255696 rs1489248423	548	I>F		No	ClinGen TOPMed gnomAD
CA2854032 rs372593429	548	I>T		No	ClinGen ExAC TOPMed
CA356255713 rs1191311887	549	H>P		No	ClinGen gnomAD
CA356255723 rs781728511	550	I>N		No	ClinGen ExAC TOPMed gnomAD
rs781728511 CA2854034	550	I>T		No	ClinGen ExAC TOPMed gnomAD
CA92095952 rs924282588	552	I>M		No	ClinGen TOPMed
rs978507706 CA92095946	552	I>N		No	ClinGen TOPMed gnomAD
rs955652963 CA92095968	553	A>D		No	ClinGen TOPMed gnomAD
rs955652963 CA356255757	553	A>V		No	ClinGen TOPMed gnomAD
rs563199677 CA2854036	555	A>P		No	ClinGen 1000Genomes ExAC TOPMed
CA2854038 rs747641629	556	P>L		No	ClinGen ExAC gnomAD
CA356255781 rs1168045825	556	P>S		No	ClinGen gnomAD
rs148286815 CA2854040	557	G>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2854041 rs148286815	557	G>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2854042 rs148286815	557	G>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs142996350 CA2854045	558	Y>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs112947342 CA92096049	559	A>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs112947342 CA2854047	559	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA2854046 COSM1058404 rs112947342	559	A>T	endometrium [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs201254824 CA2854049	560	K>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs201254824 CA2854050	560	K>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2854051 rs367660703	560	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs367660703 CA356255829	560	K>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1284702638 CA356255842	561	V>G		No	ClinGen TOPMed
rs1345539360 CA356255835	561	V>L		No	ClinGen TOPMed
rs781673041 CA2854052	563	K>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1465583674 CA356255886	567	I>T		No	ClinGen TOPMed
rs527836142 CA2854053	567	I>V		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	568	P>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA356255893 rs1264455882	568	P>R		No	ClinGen TOPMed gnomAD
rs200426751 CA2854057	569	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs113699437 CA2854060	570	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA356255901 rs113699437	570	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs113699437 CA2854059	570	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA2854058 rs777327579	570	R>W		No	ClinGen ExAC TOPMed gnomAD
CA356255905 rs759283768	571	M>K		No	ClinGen ExAC TOPMed gnomAD
rs759283768 CA356255906	571	M>R		No	ClinGen ExAC TOPMed gnomAD
CA2854062 rs759283768	571	M>T		No	ClinGen ExAC TOPMed gnomAD
rs895762139 CA92096164	572	K>*		No	ClinGen gnomAD
rs769992873 CA2854063	573	R>M		No	ClinGen ExAC TOPMed gnomAD
rs775591108 CA356255922	573	R>S		No	ClinGen ExAC TOPMed gnomAD
rs769992873 CA356255920	573	R>T		No	ClinGen ExAC TOPMed gnomAD
rs1287317428 CA356255918	573	R>W		No	ClinGen TOPMed gnomAD
COSM139508 rs763294851 CA2854065	574	A>S	skin [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA356255930 rs1369834599	575	G>C		No	ClinGen gnomAD
CA2854066 rs764266310	575	G>D		No	ClinGen ExAC gnomAD
COSM734396 rs147183461 CA2854068	576	R>C	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs139520158 CA2854070	576	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs139520158 CA356255934	576	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs147183461 CA2854069	576	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs780523328 CA2854072	577	V>A		No	ClinGen ExAC TOPMed gnomAD
CA2854071 rs756445557	577	V>M		No	ClinGen ExAC gnomAD
CA2854075 rs563491247	578	D>A		No	ClinGen ExAC TOPMed gnomAD
rs770817663 CA2854077	579	F>V		No	ClinGen ExAC gnomAD
CA2854078 rs771148112	580	I>L		No	ClinGen ExAC
rs149680311 CA2854079	580	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs144492587 CA92096234	581	L>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA2854080 rs144492587	581	L>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1378214851 CA356255964	582	Q>*		No	ClinGen TOPMed
TCGA novel	582	Q>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2854083 rs763055068	583	P>R		No	ClinGen ExAC gnomAD
CA2854082 rs375592984	583	P>S		No	ClinGen ESP ExAC gnomAD
CA2854081 rs375592984	583	P>T		No	ClinGen ESP ExAC gnomAD
rs550722890 CA2854084	584	L>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs376041091 CA2854088	585	G>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2854086 CA92096324 rs201198309	585	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2854087 COSM337905 rs376041091	585	G>V	lung [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA92096383 rs866229662	586	M>I		No	ClinGen Ensembl
COSM3428726 rs754274524 CA2854091	587	G>E	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs766618011 CA2854090	587	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA92096404 rs752281732	589	K>*		No	ClinGen Ensembl
CA356256035 rs267600282 CA2854094	589	K>N		No	ClinGen ExAC TOPMed gnomAD
CA356256029 rs1351108420	589	K>T		No	ClinGen TOPMed
TCGA novel	590	N>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2854095 rs756774651	591	F>C		No	ClinGen ExAC TOPMed gnomAD
rs955767615 CA92096449	592	I>T		No	ClinGen gnomAD
rs1349370703 CA356256066	592	I>V		No	ClinGen gnomAD
CA92096460 rs987157527	593	H>N		No	ClinGen TOPMed gnomAD
CA356256088 rs780813542	593	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA2854097 rs745790384	594	G>A		No	ClinGen ExAC gnomAD
rs566126418 CA2854099	595	L>M		No	ClinGen 1000Genomes ExAC gnomAD
rs1183205667 CA356256114	595	L>R		No	ClinGen gnomAD
rs143979607 CA2854101	596	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA356256120 rs61734020	596	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA92096512 rs61734020	596	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs61734020 CA2854102	596	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2854100 rs143979607	596	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs568910839 CA2854103	597	R>G		No	ClinGen ExAC TOPMed gnomAD
rs1242160639 CA356256125	597	R>K		No	ClinGen TOPMed
rs1266027014 CA356256151	599	G>E		No	ClinGen TOPMed gnomAD
CA2854107 rs144420459	601	H>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1334745527 CA356256192	602	D>E		No	ClinGen TOPMed gnomAD
rs151079768 CA92096544	602	D>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2854109 rs151079768	602	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2854108 rs151079768	602	D>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs140991725 CA2854110	603	P>L		No	ClinGen ExAC TOPMed gnomAD
CA11745292 rs140991725	603	P>Q		No	ClinGen ExAC TOPMed gnomAD
rs199995436 COSM1196201 CA2854114	605	G>R	lung [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC gnomAD
rs755964538 CA356256227	606	G>D		No	ClinGen ExAC TOPMed gnomAD
rs895790212 CA92096552	606	G>S		No	ClinGen gnomAD
rs755964538 CA2854115	606	G>V		No	ClinGen ExAC TOPMed gnomAD
rs1205540215 CA356256235	607	A>S		No	ClinGen TOPMed gnomAD
rs1205540215 CA356256232	607	A>T		No	ClinGen TOPMed gnomAD
rs200889860 CA92096554	607	A>V		No	ClinGen Ensembl
rs1436289072 CA356256245	608	S>G		No	ClinGen gnomAD
CA356256247 rs1351795298	608	S>T		No	ClinGen gnomAD
rs368652750 CA92096566	609	S>C		No	ClinGen ESP ExAC gnomAD
rs368652750 CA2854118	609	S>F		No	ClinGen ESP ExAC gnomAD
CA356256256 rs1458495360	609	S>T		No	ClinGen gnomAD
CA2854119 rs778915613	610	L>F		No	ClinGen ExAC gnomAD
CA356256274 CA2854121 rs748345296	611	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1293066442 CA356256279	611	G>V		No	ClinGen gnomAD
CA2854120 rs748345296	611	G>W		No	ClinGen ExAC TOPMed gnomAD
rs773113975 CA2854122	612	E>*		No	ClinGen ExAC TOPMed gnomAD
rs773113975 CA2854123	612	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs1168335364 CA356256293	613	A>G		No	ClinGen TOPMed gnomAD
rs777212567 CA356256290	613	A>S		No	ClinGen ExAC TOPMed gnomAD
rs777212567 CA2854125	613	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1168335364 CA356256294	613	A>V		No	ClinGen TOPMed gnomAD
rs946691927 CA356256299	614	T>K		No	ClinGen TOPMed gnomAD
rs946691927 CA92096618	614	T>M		No	ClinGen TOPMed gnomAD
rs542973431 CA2854129	615	E>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs775874480 CA2854128	615	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs767229617 CA2854130	616	P>A		No	ClinGen ExAC TOPMed gnomAD
CA2854131 rs749834726	616	P>R		No	ClinGen ExAC gnomAD
rs767229617 CA356256306	616	P>T		No	ClinGen ExAC TOPMed gnomAD
CA356256316 rs147028522	617	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA2854132 rs760245531	617	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA2854134 rs753818723	618	P>L		No	ClinGen ExAC TOPMed gnomAD
CA92096698 rs531809420	619	L>F		No	ClinGen 1000Genomes TOPMed gnomAD
CA356256322 rs531809420	619	L>I		No	ClinGen 1000Genomes TOPMed gnomAD
rs531809420 CA356256323	619	L>V		No	ClinGen 1000Genomes TOPMed gnomAD
TCGA novel	620	R>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2854138 rs143690050	620	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA2854139 rs778063151	620	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA2854137 COSM1619177 rs143690050	620	R>W	Variant assessed as Somatic; 0.0 impact. liver central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA92096745 rs201930593	621	A>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs747007837 CA2854140	621	A>T		No	ClinGen ExAC TOPMed gnomAD
CA2854141 rs201930593	621	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs770337063 CA2854144	622	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs144042196 CA2854146	622	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA2854145 rs144042196	622	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA2854147 rs144042196	622	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs770337063 CA356256333	622	R>S		No	ClinGen ExAC TOPMed gnomAD
rs1460521604 CA356256338	623	R>K		No	ClinGen gnomAD
CA92096823 rs1023334438 CA356256339	623	R>S		No	ClinGen TOPMed
rs1323304662 CA356256341	624	Q>E		No	ClinGen gnomAD
rs951794891 CA92096824	624	Q>R		No	ClinGen TOPMed
rs953061607 CA92096826	625	P>A		No	ClinGen Ensembl
CA2854150 rs765879014	625	P>H		No	ClinGen ExAC TOPMed gnomAD
CA92096833 rs765879014	625	P>L		No	ClinGen ExAC TOPMed gnomAD
rs953061607 CA92096827	625	P>S		No	ClinGen Ensembl
CA2854151 rs116644918	626	S>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA356256356 rs1246627148	627	A>D		No	ClinGen gnomAD
rs752476723 CA2854154	627	A>S		No	ClinGen ExAC
rs61734024 CA356256365	628	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs751803458 CA2854157	628	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA356256360 rs751803458	628	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA2854159 CA356256366 rs202089730 RCV000897496	629	G>R		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs202089730 CA356256367	629	G>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA356256373 rs1465782099	630	S>C		No	ClinGen gnomAD
CA2854160 rs745970734	630	S>N		No	ClinGen ExAC TOPMed gnomAD
rs770218480 CA2854161	632	P>T		No	ClinGen ExAC gnomAD
rs780550478 CA2854162	633	W>R		No	ClinGen ExAC TOPMed gnomAD
rs769059721 CA92096936	634	W>*		No	ClinGen ExAC TOPMed gnomAD
CA2854163 rs749818306	634	W>*		No	ClinGen ExAC gnomAD
CA2854164 rs769059721	634	W>C		No	ClinGen ExAC TOPMed gnomAD
CA92096934 rs948788093	634	W>G		No	ClinGen TOPMed gnomAD
CA2854166 rs370337185	635	W>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs370337185 CA2854165	635	W>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA2854167 rs770727167	636	S>A		No	ClinGen ExAC gnomAD
rs1457275585 CA356256414	636	S>F		No	ClinGen gnomAD
CA356256422 rs1382620607	637	Y>*		No	ClinGen TOPMed gnomAD
rs150753715 CA2854168	637	Y>H		No	ClinGen ESP ExAC gnomAD
rs1441360986 CA356256425	638	F>C		No	ClinGen gnomAD
CA2854169 rs372696621	638	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA92097005 rs925921792	639	T>I		No	ClinGen TOPMed gnomAD
CA356256430 rs1296276135	639	T>P		No	ClinGen TOPMed gnomAD
rs762868603 CA2854172	640	S>L		No	ClinGen ExAC TOPMed gnomAD
rs1311161340 CA356256435	640	S>T		No	ClinGen TOPMed
CA356256440 rs1238349774	641	L>M		No	ClinGen gnomAD
rs1313288035 CA356256442	641	L>Q		No	ClinGen TOPMed
CA92097052 rs1804807	642	S>C		No	ClinGen Ensembl
rs144001774 CA2854174	642	S>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs144001774 CA356256447	642	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA356256448 rs144001774	642	S>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA356256456 rs1228588555	643	T>S		No	ClinGen gnomAD
CA356256457 rs1484525390	644	H>N		No	ClinGen TOPMed gnomAD
CA356256459 rs1484525390	644	H>Y		No	ClinGen TOPMed gnomAD
CA356256469 rs1257230006	645	R>K		No	ClinGen gnomAD
rs767759975 CA356256470	645	R>S		No	ClinGen ExAC gnomAD
rs756172035 CA2854178	646	P>L		No	ClinGen ExAC gnomAD
rs750443864 CA2854177	646	P>S		No	ClinGen ExAC gnomAD
rs145930254 CA2854180	647	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs145930254 CA2854179	647	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs755483835 CA2854182	647	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs755483835 CA2854181	647	R>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs755483835 CA356256477	647	R>P		No	ClinGen ExAC TOPMed gnomAD
rs745576687 CA2854187	648	W>*		No	ClinGen ExAC TOPMed gnomAD
CA92097173 rs200993349	648	W>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs745576687 CA356256481	648	W>C		No	ClinGen ExAC TOPMed gnomAD
rs770638902 CA356256479	648	W>G		No	ClinGen ExAC
CA2854185 rs770638902	648	W>R		No	ClinGen ExAC
CA2854186 rs200993349	648	W>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs769428369 CA2854188	649	L>P		No	ClinGen ExAC TOPMed gnomAD
rs774158333 CA2854192	650	L>H		No	ClinGen ExAC TOPMed gnomAD
rs750639484 CA2854195	651	K>N		No	ClinGen ExAC TOPMed gnomAD
CA356256492 rs1577133894	651	K>Q		No	ClinGen Ensembl
rs767357383 CA2854194	651	K>R		No	ClinGen ExAC gnomAD
rs201944132 CA2854198	653	Y>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs201944132 CA2854197	653	Y>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2854199 rs753883265	653	Y>Y		No	ClinGen ExAC TOPMed gnomAD

No associated diseases with Q66K79

1 regional properties for Q66K79

Type	Name	Position	InterPro Accession
domain	GPCR, rhodopsin-like, 7TM	56 - 304	IPR017452

Functions

		Description
EC Number
Subcellular Localization	Secreted, extracellular space, extracellular matrix
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

1 GO annotations of cellular component

Name	Definition
extracellular space	That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid.

2 GO annotations of molecular function

Name	Definition
metallocarboxypeptidase activity	Catalysis of the hydrolysis of a single C-terminal amino acid residue from a polypeptide chain by a mechanism in which water acts as a nucleophile, one or two metal ions hold the water molecule in place, and charged amino acid side chains are ligands for the metal ions.
zinc ion binding	Binding to a zinc ion (Zn).

4 GO annotations of biological process

Name	Definition
peptide metabolic process	The chemical reactions and pathways involving peptides, compounds of two or more amino acids where the alpha carboxyl group of one is bound to the alpha amino group of another.
protein processing	Any protein maturation process achieved by the cleavage of a peptide bond or bonds within a protein. Protein maturation is the process leading to the attainment of the full functional capacity of a protein.
proteolysis	The hydrolysis of proteins into smaller polypeptides and/or amino acids by cleavage of their peptide bonds.
Wnt signaling pathway	The series of molecular signals initiated by binding of a Wnt protein to a frizzled family receptor on the surface of the target cell and ending with a change in cell state.

16 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P04836	CPE	Carboxypeptidase E	Bos taurus (Bovine)	PR
Q2KJ83	CPN1	Carboxypeptidase N catalytic chain	Bos taurus (Bovine)	PR
Q8QGP3	CPZ	Carboxypeptidase Z	Gallus gallus (Chicken)	PR
P14384	CPM	Carboxypeptidase M	Homo sapiens (Human)	PR
Q8N436	CPXM2	Inactive carboxypeptidase-like protein X2	Homo sapiens (Human)	PR
Q96SM3	CPXM1	Probable carboxypeptidase X1	Homo sapiens (Human)	PR
Q8IUX7	AEBP1	Adipocyte enhancer-binding protein 1	Homo sapiens (Human)	PR
O75976	CPD	Carboxypeptidase D	Homo sapiens (Human)	PR
Q80V42	Cpm	Carboxypeptidase M	Mus musculus (Mouse)	PR
O89001	Cpd	Carboxypeptidase D	Mus musculus (Mouse)	PR
Q9JJN5	Cpn1	Carboxypeptidase N catalytic chain	Mus musculus (Mouse)	PR
Q9Z100	Cpxm1	Probable carboxypeptidase X1	Mus musculus (Mouse)	PR
Q9D2L5	Cpxm2	Inactive carboxypeptidase-like protein X2	Mus musculus (Mouse)	PR
Q640N1	Aebp1	Adipocyte enhancer-binding protein 1	Mus musculus (Mouse)	PR
Q9EQV8	Cpn1	Carboxypeptidase N catalytic chain	Rattus norvegicus (Rat)	PR
A2RUV9	Aebp1	Adipocyte enhancer-binding protein 1	Rattus norvegicus (Rat)	PR

10	20	30	40	50	60
MPPPLPLLLL	TVLVVAAARP	GCEFERNPAG	ECHRPPAADS	ATCVDLQLRT	CSDAAYNHTT
70	80	90	100	110	120
FPNLLQHRSW	EVVEASSEYI	LLSVLHQLLE	GQCNPDLRLL	GCAVLAPRCE	GGWVRRPCRH
130	140	150	160	170	180
ICEGLREVCQ	PAFDAIDMAW	PYFLDCHRYF	TREDEGCYDP	LEKLRGGLEA	DEALPSGLPP
190	200	210	220	230	240
TFIRFSHHSY	AQMVRVLRRT	ASRCAHVART	YSIGRSFDGR	ELLVIEFSSR	PGQHELMEPE
250	260	270	280	290	300
VKLIGNIHGN	EVAGREMLIY	LAQYLCSEYL	LGNPRIQRLL	NTTRIHLLPS	MNPDGYEVAA
310	320	330	340	350	360
AEGAGYNGWT	SGRQNAQNLD	LNRNFPDLTS	EYYRLAETRG	ARSDHIPIPQ	HYWWGKVAPE
370	380	390	400	410	420
TKAIMKWMQT	IPFVLSASLH	GGDLVVSYPF	DFSKHPQEEK	MFSPTPDEKM	FKLLSRAYAD
430	440	450	460	470	480
VHPMMMDRSE	NRCGGNFLKR	GSIINGADWY	SFTGGMSDFN	YLHTNCFEIT	VELGCVKFPP
490	500	510	520	530	540
EEALYILWQH	NKESLLNFVE	TVHRGIKGVV	TDKFGKPVKN	ARISVKGIRH	DITTAPDGDY
550	560	570	580	590	600
WRLLPPGIHI	VIAQAPGYAK	VIKKVIIPAR	MKRAGRVDFI	LQPLGMGPKN	FIHGLRRTGP
610	620	630	640	650
HDPLGGASSL	GEATEPDPLR	ARRQPSADGS	KPWWWSYFTS	LSTHRPRWLL	KY