AiPD: Autoinhibited Protein Database

Q9Y5H6

Gene name	PCDHA8
Protein name	Protocadherin alpha-8
Names	PCDH-alpha-8
Species	Homo sapiens (Human)
KEGG Pathway	hsa:56140
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

854-950 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

854-950 (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 Q9Y5H6

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q9Y5H6-F1	Predicted				AlphaFoldDB

1043 variants for Q9Y5H6

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV000508600 CA3454461 rs150254638	807	R>H	Hirschsprung disease, susceptibility to, 1 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs782810711 CA3449395	2	D>G		No	ClinGen ExAC TOPMed
CA3449394 rs111298048	2	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3449397 rs781808713	3	Y>*		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	3	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1554138104 CA361260114	4	H>L		No	ClinGen gnomAD
rs1353255921 CA361260107	4	H>Y		No	ClinGen TOPMed
rs376396414 CA3449398	5	W>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1424910645 CA361260139	6	R>*		No	ClinGen TOPMed
rs782262477 CA3449400	6	R>P		No	ClinGen ExAC gnomAD
COSM3826970 rs782262477 COSM3826969 CA3449399	6	R>Q	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs782681292 CA3449401	7	G>R		No	ClinGen ExAC TOPMed gnomAD
CA361260162 rs1554138115	8	E>*		No	ClinGen gnomAD
CA361260164 rs1554138118	8	E>A		No	ClinGen gnomAD
CA361260179 rs17844312	8	E>D		No	ClinGen Ensembl
CA3449402 rs3756333	10	G>R		No	ClinGen ExAC TOPMed gnomAD
CA361260228 rs1554138130	12	W>*		No	ClinGen gnomAD
rs782317830 CA3449404	13	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA3449405 rs782217721	13	R>L		No	ClinGen ExAC gnomAD
CA361260237 COSM1754043 COSM1754044 rs782217721	13	R>Q	Variant assessed as Somatic; impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1238477201 CA361260265	15	L>P		No	ClinGen TOPMed gnomAD
CA3449406 rs782348883	16	L>P		No	ClinGen ExAC gnomAD
CA361260299 rs1176105427	18	L>I		No	ClinGen TOPMed
rs782006214 CA3449407	19	L>P		No	ClinGen ExAC TOPMed gnomAD
CA3449408 rs577075342	20	L>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1554138141 CA361260321	21	L>P		No	ClinGen gnomAD
CA361260376 rs1554138145	25	K>E		No	ClinGen gnomAD
rs782817085 CA361260441 CA3449409	28	S>R		No	ClinGen ExAC TOPMed gnomAD
CA3449411 COSM1433903 COSM1433902 rs782072047	29	G>D	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA361260446 rs1562387216	29	G>R		No	ClinGen Ensembl
CA361260475 rs1554138162	31	L>F		No	ClinGen gnomAD
CA361260492 CA361260494 rs1242106171	32	H>Q		No	ClinGen TOPMed gnomAD
rs781840128 CA3449413	32	H>R		No	ClinGen ExAC gnomAD
rs782775436 CA3449415	35	V>F		No	ClinGen ExAC gnomAD
CA3449418 rs782581098	36	P>H		No	ClinGen ExAC TOPMed gnomAD
CA3449419 rs782581098	36	P>L	Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA361260576 rs782581098	36	P>R		No	ClinGen ExAC TOPMed gnomAD
CA3449417 rs782532787	36	P>S		No	ClinGen ExAC TOPMed gnomAD
rs782585301 CA3449421	38	E>*		No	ClinGen ExAC gnomAD
rs3756332 CA361260649	39	A>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3449423 rs3756332	39	A>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs782688329 CA3449424	40	K>E		No	ClinGen ExAC gnomAD
rs1554138191 CA361260679	41	H>P		No	ClinGen gnomAD
rs782285371 CA3449425	41	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs1554138191 CA361260682	41	H>R		No	ClinGen gnomAD
rs1554138190 CA361260676	41	H>Y		No	ClinGen gnomAD
rs782332058 CA3449426	43	T>I		No	ClinGen ExAC TOPMed gnomAD
rs782097039 CA3449428	44	F>L		No	ClinGen ExAC gnomAD
CA361260782 rs1554138202	46	G>C		No	ClinGen gnomAD
CA3449429 rs782342927	46	G>V		No	ClinGen ExAC TOPMed gnomAD
CA3449431 rs782159646	48	I>T		No	ClinGen ExAC gnomAD
CA3449432 rs562900530	49	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	50	Q>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1490156896 CA361260889	51	D>E		No	ClinGen TOPMed gnomAD
rs533142995 CA3449435	53	G>E		No	ClinGen 1000Genomes TOPMed gnomAD
rs533142995 CA128361836	53	G>V		No	ClinGen 1000Genomes TOPMed gnomAD
rs559730061 CA3449434	53	G>W		No	ClinGen ExAC gnomAD
rs1259932956 CA361260946	54	L>R		No	ClinGen TOPMed gnomAD
rs62384463 CA3449438	55	E>D		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	55	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3449439 rs373294357	56	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs376388555 CA3449440	57	A>E		No	ClinGen ExAC TOPMed gnomAD
rs781906401 CA3449441	58	E>K		No	ClinGen ExAC gnomAD
CA361261061 rs376513525	61	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM3776269 CA3449442 COSM3776268 rs376513525	61	P>Q	urinary_tract [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	61	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1345417681 CA361261084	62	R>L		No	ClinGen TOPMed gnomAD
rs1345417681 CA361261083	62	R>P		No	ClinGen TOPMed gnomAD
rs62624460 CA3449444	64	F>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1554138269 CA361261108	64	F>L		No	ClinGen gnomAD
CA361261157 rs1554138273	65	R>L		No	ClinGen gnomAD
rs1554138273 CA361261155	65	R>Q		No	ClinGen gnomAD
CA361261151 rs1562388571	65	R>W		No	ClinGen Ensembl
rs782600822 CA361261172 CA3449447	66	V>L		No	ClinGen ExAC TOPMed gnomAD
rs782600822 CA361261164	66	V>M		No	ClinGen ExAC TOPMed gnomAD
CA361261190 rs1554138282	67	A>E		No	ClinGen gnomAD
CA361261192 rs1554138282	67	A>V		No	ClinGen gnomAD
rs1580966661 CA361261229 TCGA novel	68	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA Ensembl
rs1379047518 CA361261233	69	K>E		No	ClinGen TOPMed
rs1554138289 CA361261250	70	R>G		No	ClinGen gnomAD
CA361261257 rs1554138299	70	R>S		No	ClinGen gnomAD
CA3449451 rs782058552	71	H>L		No	ClinGen ExAC TOPMed gnomAD
rs782015058 CA3449450	71	H>N		No	ClinGen ExAC gnomAD
rs782015058 CA361261265	71	H>Y		No	ClinGen ExAC gnomAD
CA3449452 rs146057065	72	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs782773701 CA3449455	72	R>Q		No	ClinGen ExAC gnomAD
CA3449454 rs146057065	72	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	73	D>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA361261284 rs1488596274	73	D>H		No	ClinGen TOPMed gnomAD
CA361261276 rs1488596274	73	D>N		No	ClinGen TOPMed gnomAD
rs1203215461 CA361261293	74	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1554138308 CA361261305	75	L>P		No	ClinGen gnomAD
CA361261321 rs781866504	76	E>D		No	ClinGen ExAC TOPMed gnomAD
CA361261315 rs1554138310	76	E>V		No	ClinGen gnomAD
rs3756331 CA3449457 VAR_021876	78	S>N		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1554138313 CA361261343	79	L>M		No	ClinGen gnomAD
rs1554138314 CA361261345	79	L>Q		No	ClinGen gnomAD
CA3449458 rs782792697	80	Q>H		No	ClinGen ExAC gnomAD
COSM1062150 COSM1062151 rs1554138321 CA361261381	82	G>C	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA3449460 COSM1062153 COSM1062152 rs782436885	82	G>D	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1281486656 CA361261390	83	I>V		No	ClinGen TOPMed gnomAD
CA361261405 rs1562389584	84	L>S		No	ClinGen Ensembl
rs1220947138 CA361261422	85	F>S		No	ClinGen TOPMed
CA361261455 rs1327577851	89	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs782521144 CA3449463	91	D>H		No	ClinGen ExAC TOPMed gnomAD
CA3449465 rs566154248	92	R>C		No	ClinGen 1000Genomes ExAC gnomAD
CA3449464 rs566154248	92	R>G		No	ClinGen 1000Genomes ExAC gnomAD
rs782464159 CA3449466	92	R>L		No	ClinGen ExAC gnomAD
rs566154248 CA361261484	92	R>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
rs782222957 CA3449468	93	E>*		No	ClinGen ExAC gnomAD
rs782222957 CA3449469	93	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs781994028 CA3449470	94	E>K		No	ClinGen ExAC TOPMed gnomAD
CA361261524 rs1554138334	96	C>S		No	ClinGen gnomAD
rs555005640 CA3449472	96	C>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
CA3449474 rs782066837	97	G>A		No	ClinGen ExAC TOPMed gnomAD
rs782066837 CA3449475	97	G>E		No	ClinGen ExAC TOPMed gnomAD
CA361261536 rs199713478 CA3449473	97	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs144868773 CA3449476	98	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1580970539 CA361261543 COSM1062155 COSM1062154	98	R>W	endometrium [Cosmic]	No	ClinGen cosmic curated Ensembl
rs782086389 CA3449477	99	S>C		No	ClinGen ExAC TOPMed gnomAD
CA361261552 rs1554138356	99	S>N		No	ClinGen gnomAD
rs782778902 CA3449478	99	S>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA361261559 rs1580970968	100	A>T		No	ClinGen Ensembl
rs1425270500 CA361261582	102	C>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA3449480 rs782535381	104	I>S		No	ClinGen ExAC gnomAD
CA361261605 rs1256595237	104	I>V		No	ClinGen TOPMed
rs782711759 CA3449481	106	L>V		No	ClinGen ExAC gnomAD
CA3449482 rs781786941	107	E>V		No	ClinGen ExAC TOPMed
rs1461054795 CA361261651	108	V>A		No	ClinGen TOPMed
CA361261657 rs1580971695	109	I>N		No	ClinGen Ensembl
CA3449484 rs558861388	110	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs558861388 CA3449483	110	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1270188852 CA361261682	111	D>E		No	ClinGen TOPMed gnomAD
rs1554138399 CA361261687	112	R>K		No	ClinGen gnomAD
CA3449486 rs146047089	113	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3449487 rs146047089	113	P>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3449489 rs782331305	115	Q>K		No	ClinGen ExAC gnomAD
TCGA novel	116	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs782229170 CA3449491	119	V>E		No	ClinGen ExAC gnomAD
rs1554138418 CA361261773	120	D>N		No	ClinGen gnomAD
rs782342360 CA3449492 CA3449493	121	V>L		No	ClinGen ExAC TOPMed gnomAD
rs782342360 CA3449494	121	V>M		No	ClinGen ExAC TOPMed gnomAD
CA3449495 rs782793191	122	E>D		No	ClinGen ExAC TOPMed gnomAD
rs1332759626 CA361261797	122	E>K		No	ClinGen TOPMed gnomAD
rs1580973511 CA361261817	123	V>G		No	ClinGen Ensembl
CA361261842 rs1580973595	125	D>V		No	ClinGen Ensembl
rs138900310 CA128362082	126	V>A		No	ClinGen ESP
CA361261878 rs1554138466	127	N>K		No	ClinGen gnomAD
CA361261901 rs1166014114	129	N>K		No	ClinGen TOPMed gnomAD
CA3449497 rs782047941	129	N>T		No	ClinGen ExAC gnomAD
CA361261919 rs574481490	130	P>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3449498 rs574481490	130	P>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1444200684 CA361261925	131	P>S		No	ClinGen TOPMed
rs1554138489 CA361261946	132	V>G		No	ClinGen gnomAD
TCGA novel	134	R>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs782523657 CA3449500	134	R>Q		No	ClinGen ExAC gnomAD
CA3449499 rs781816417	134	R>W		No	ClinGen ExAC gnomAD
CA361261978 rs1554138496	135	V>L		No	ClinGen gnomAD
CA361261988 rs1554138499	136	K>E		No	ClinGen gnomAD
CA361262004 rs1580975100	136	K>N		No	ClinGen Ensembl
rs1554138500 CA361262020	137	D>E		No	ClinGen gnomAD
rs541522208 CA3449502	140	L>M		No	ClinGen 1000Genomes
TCGA novel	141	F>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1554138511 CA361262059	141	F>V		No	ClinGen gnomAD
rs1554138513 CA361262065	141	F>Y		No	ClinGen gnomAD
CA361262086 rs1562391326	142	V>G		No	ClinGen Ensembl
CA128362089 rs142035337	143	S>A		No	ClinGen ESP gnomAD
CA3449504 rs781897436	145	S>Y		No	ClinGen ExAC gnomAD
rs144800443 CA3449505	146	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA361262200 rs148555729	150	S>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA3449507 rs148555729	150	S>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs1359107093 CA361262204	151	R>G		No	ClinGen TOPMed gnomAD
rs1292935559 CA361262211	151	R>P		No	ClinGen TOPMed
CA361262220 rs1554138532	152	F>C		No	ClinGen gnomAD
CA361262222 rs1554138532	152	F>S		No	ClinGen gnomAD
rs782259152 CA361262287	157	A>S		No	ClinGen ExAC gnomAD
CA3449510 rs782259152	157	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA3449513 rs782199697	160	A>T		No	ClinGen ExAC gnomAD
rs782309593 CA3449514	160	A>V		No	ClinGen ExAC gnomAD
rs1311079057 CA361262345	161	D>A		No	ClinGen TOPMed
rs1442483448 CA361262358	162	V>L		No	ClinGen TOPMed
rs781969786 CA3449516	163	G>E		No	ClinGen ExAC TOPMed gnomAD
CA3449518 rs782381273	164	A>T		No	ClinGen ExAC TOPMed gnomAD
rs781978794 CA3449519	165	N>K		No	ClinGen ExAC TOPMed gnomAD
CA3449520 rs142905144	166	S>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs782813381 CA3449521	166	S>F		No	ClinGen ExAC gnomAD
rs150698374 CA3449524	169	T>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs782532388 CA3449526	170	Y>*		No	ClinGen ExAC gnomAD
rs1232327422 CA361262480	170	Y>C		No	ClinGen TOPMed gnomAD
rs1470654104 CA361262472	170	Y>H		No	ClinGen TOPMed
rs781905507 CA3449528	171	R>K		No	ClinGen ExAC gnomAD
rs1453803660 CA361262529	173	S>G		No	ClinGen TOPMed gnomAD
rs782446147 CA3449531	175	H>Q		No	ClinGen ExAC gnomAD
rs1554138589 CA361262606	177	Y>C		No	ClinGen gnomAD
CA3449532 rs782229457	178	F>S		No	ClinGen ExAC TOPMed gnomAD
CA3449533 rs182904804	179	M>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA361262645 rs182904804	179	M>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3449534 rs782644730	180	L>P		No	ClinGen ExAC gnomAD
rs145069696 CA3449535	181	D>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA361262670 rs1288637378	181	D>V		No	ClinGen TOPMed gnomAD
CA361262699 rs1223944877	183	N>S		No	ClinGen TOPMed
CA3449536 rs147561890	184	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA361262736 rs1554138614	186	N>D		No	ClinGen gnomAD
TCGA novel	187	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs782072570 CA3449538	187	D>V		No	ClinGen ExAC gnomAD
CA3449541 rs781972042	188	E>D		No	ClinGen ExAC TOPMed gnomAD
rs781860003 CA3449543	189	N>K		No	ClinGen ExAC gnomAD
rs114640080 CA361262795	189	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3449542 rs114640080	189	N>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA361262822 rs1554138627	191	L>M		No	ClinGen gnomAD
rs782726371 CA3449545	192	V>A		No	ClinGen ExAC TOPMed gnomAD
rs782726371 CA3449546	192	V>D		No	ClinGen ExAC TOPMed gnomAD
rs1362176056 CA361262852	193	E>G		No	ClinGen TOPMed
CA361262873 rs782493316	195	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA3449547 rs782493316	195	V>L		No	ClinGen ExAC TOPMed gnomAD
rs782726028 CA3449548	197	R>*		No	ClinGen ExAC TOPMed gnomAD
CA361262927 rs1554138648	199	S>T		No	ClinGen gnomAD
rs1490008187 CA361262978	202	R>I		No	ClinGen TOPMed gnomAD
rs1490008187 CA361262976	202	R>T		No	ClinGen TOPMed gnomAD
rs782674385 CA361263016 CA3449551	204	D>E		No	ClinGen ExAC TOPMed gnomAD
CA361263008 rs1554138650	204	D>Y		No	ClinGen gnomAD
CA361263022 rs1281777181	205	A>S		No	ClinGen TOPMed gnomAD
CA3449553 rs782454808	207	A>E		No	ClinGen ExAC gnomAD
CA3449552 rs782268321	207	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs782454808 CA361263054	207	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1554138662 CA361263071	208	H>Q		No	ClinGen gnomAD
rs1554138658 CA361263066	208	H>R		No	ClinGen gnomAD
rs374278607 CA3449556	209	H>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs782003973 CA3449557	209	H>R		No	ClinGen ExAC gnomAD
CA3449555 rs374278607	209	H>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA361263096 rs1580983640	210	L>S		No	ClinGen Ensembl
rs782251425 CA3449558	210	L>V		No	ClinGen ExAC gnomAD
CA361263116 rs1282125752	211	F>L		No	ClinGen TOPMed
rs1323540473 CA361263103	211	F>L		No	ClinGen TOPMed
CA361263142 rs1221561116	214	A>T		No	ClinGen TOPMed
rs1342346203 CA361263151	214	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA361263155 rs1554138669	215	T>A		No	ClinGen gnomAD
CA361263164 rs1554138671	215	T>I		No	ClinGen gnomAD
CA361263172 rs1270523059	216	D>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs782421173 CA3449559	217	G>V		No	ClinGen ExAC gnomAD
CA3449560 rs782019986	218	G>C		No	ClinGen ExAC TOPMed gnomAD
rs368184778 CA3449561	219	K>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1316425759 CA361263228	220	P>T		No	ClinGen TOPMed
rs781951350 CA3449563	221	E>D		No	ClinGen ExAC TOPMed
CA3449562 rs782737634	221	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA361263264 rs1554138683	222	L>P		No	ClinGen gnomAD
CA3449564 rs782125762	224	G>D		No	ClinGen ExAC gnomAD
rs782756553 CA3449565	226	V>A		No	ClinGen ExAC gnomAD
CA361263309 rs1187456562	226	V>L		No	ClinGen TOPMed
rs1475257095 CA361263324	227	Q>R		No	ClinGen TOPMed
rs1554138709 CA361263336	228	L>R		No	ClinGen gnomAD
rs781900361 CA3449566	229	L>P		No	ClinGen ExAC gnomAD
CA3449567 rs782530916	231	T>P		No	ClinGen ExAC gnomAD
CA361263382 rs1554138716	232	V>A		No	ClinGen gnomAD
CA361263393 rs1554138721	233	L>P		No	ClinGen gnomAD
rs781798239 CA3449569	234	D>G		No	ClinGen ExAC gnomAD
rs782504959 CA3449570	235	V>A		No	ClinGen ExAC gnomAD
rs1554138731 CA361263458	237	D>V		No	ClinGen gnomAD
rs371732180 CA3449572	240	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1554138750 CA361263502	241	T>A		No	ClinGen gnomAD
rs1554138752 CA361263519	242	F>S		No	ClinGen gnomAD
rs536759978 CA3449575 COSM276643 COSM276642	243	E>K	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA3449574 rs536759978	243	E>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs782280911 CA3449577	244	Q>*		No	ClinGen ExAC gnomAD
rs782280911 CA3449576	244	Q>E		No	ClinGen ExAC gnomAD
CA361263563 rs1461509081	245	S>T		No	ClinGen TOPMed gnomAD
CA361263576 rs1201275752	246	E>Q		No	ClinGen TOPMed
CA3449579 rs782205390	247	Y>C		No	ClinGen ExAC gnomAD
rs1319911388 COSM1062159 COSM1062158 CA361263594	247	Y>H	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA3449582 rs782157352	248	E>D		No	ClinGen ExAC gnomAD
rs200994582 CA3449581	248	E>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1213934072 CA361263608	248	E>Q		No	ClinGen TOPMed gnomAD
CA361263636 rs1554138767	249	V>A		No	ClinGen gnomAD
rs201558482 CA128362243	249	V>L		No	ClinGen Ensembl
rs781931179 CA3449584	251	I>T		No	ClinGen ExAC gnomAD
rs1454758813 CA361263680	252	F>C		No	ClinGen TOPMed
CA361263670 rs1285752130	252	F>L		No	ClinGen TOPMed
rs1554138777 CA361263741	255	A>V		No	ClinGen gnomAD
CA3449586 rs558925442	257	N>H		No	ClinGen 1000Genomes ExAC gnomAD
CA128362273 rs17844316	258	G>A		No	ClinGen gnomAD
rs17844316 CA128362272	258	G>E		No	ClinGen gnomAD
rs145495287 CA361263777 CA3449587	258	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA361263800 rs1554138785	260	T>A		No	ClinGen gnomAD
rs782779216 CA3449589	262	I>V		No	ClinGen ExAC gnomAD
CA3449591 rs525941	263	K>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs525941 CA3449592	263	K>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1171652738 CA361263846	264	L>M		No	ClinGen TOPMed gnomAD
CA3449594 rs371559299	268	D>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs534570289 CA3449596	269	P>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs525886 CA3449597	269	P>L		No	ClinGen ExAC TOPMed gnomAD
CA3449599 rs525886 COSM345701 COSM345702	269	P>Q	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs525886 CA3449598 VAR_048529	269	P>R		No	ClinGen UniProt ExAC TOPMed dbSNP gnomAD
rs534570289 CA361263913	269	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3449595 rs534570289	269	P>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3449602 rs781977788	270	D>A		No	ClinGen ExAC TOPMed gnomAD
CA361263931 rs1554138804	270	D>E		No	ClinGen gnomAD
rs781977788 CA3449601	270	D>G		No	ClinGen ExAC TOPMed gnomAD
rs1181203703 CA361263925	270	D>N		No	ClinGen TOPMed
CA3449605 rs782161799	274	N>S		No	ClinGen ExAC TOPMed gnomAD
rs781806924 CA3449607	275	G>E		No	ClinGen ExAC gnomAD
CA3449606 rs574512736	275	G>R		No	ClinGen 1000Genomes ExAC gnomAD
rs781806924 CA361264013	275	G>V		No	ClinGen ExAC gnomAD
rs782098467 CA361264022	276	A>E		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	276	A>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs782098467 CA3449608	276	A>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	278	S>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3449609 rs782727077	279	Y>D		No	ClinGen ExAC TOPMed gnomAD
CA361264066 rs1554138834	280	S>T		No	ClinGen gnomAD
CA361264104 rs1246524333	281	F>L		No	ClinGen TOPMed gnomAD
CA3449610 rs781874615	283	S>G		No	ClinGen ExAC gnomAD
rs1554138837 CA361264137	283	S>N		No	ClinGen gnomAD
TCGA novel	284	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs782502150 CA3449611	285	V>D		No	ClinGen ExAC gnomAD
rs201890234 CA3449613	286	E>A		No	ClinGen ExAC TOPMed gnomAD
rs386692891 CA917595098	286	E>AA		No	ClinGen Ensembl
CA3449614 rs199588480	287	T>A		No	ClinGen ExAC TOPMed gnomAD
rs782237984 CA3449616	288	M>T		No	ClinGen ExAC gnomAD
CA361264216 rs1554138845	288	M>V		No	ClinGen gnomAD
rs377297294 CA3449617	289	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1554138851 CA361264308	290	I>T		No	ClinGen gnomAD
rs369894475 CA3449618	291	D>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs1165859216 CA361264372	292	H>Y		No	ClinGen TOPMed gnomAD
CA361264432 rs1554138867	294	S>G		No	ClinGen gnomAD
CA3449619 rs782256061	295	I>L		No	ClinGen ExAC gnomAD
rs782018862 CA3449621	295	I>M		No	ClinGen ExAC gnomAD
rs372922883 CA3449620	295	I>T		No	ClinGen ESP ExAC gnomAD
rs782194934 CA3449622	297	R>*		No	ClinGen ExAC TOPMed gnomAD
rs782194934 CA361264492	297	R>G		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	297	R>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM276645 CA3449623 rs141101675 COSM276644	297	R>Q	Variant assessed as Somatic; 0.0003695 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA3449624 rs781946891	298	N>D		No	ClinGen ExAC gnomAD
CA3449625 rs145025203	299	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
CA3449626 rs782763503	301	E>G		No	ClinGen ExAC gnomAD
CA3449627 rs556617535	302	I>R		No	ClinGen 1000Genomes ExAC gnomAD
CA361264747 rs201880118	305	R>L		No	ClinGen ExAC TOPMed gnomAD
CA3449629 rs201880118	305	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA3449628 rs782143913	305	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1271034090 CA361264756	306	G>C		No	ClinGen TOPMed gnomAD
CA361264773 rs1554138909	306	G>D		No	ClinGen gnomAD
rs1271034090 CA361264758	306	G>S		No	ClinGen TOPMed gnomAD
rs781786250 CA3449630	307	N>H		No	ClinGen ExAC gnomAD
rs1358378131 CA361264801	307	N>K		No	ClinGen TOPMed
CA361264849 rs1289361551	309	D>H		No	ClinGen TOPMed gnomAD
CA361264919 rs1580994961	311	E>G		No	ClinGen Ensembl
CA3449633 rs782750708	312	Q>R		No	ClinGen ExAC gnomAD
CA3449634 rs781876025	314	N>D		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	315	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1554138931 CA361265085	316	Y>C		No	ClinGen TOPMed
CA3449636 rs782512754	316	Y>H		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	316	Y>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA361265200 rs1554138934	320	I>N		No	ClinGen gnomAD
CA361265195 rs1554138934	320	I>T		No	ClinGen gnomAD
CA361265205 rs1554138935	321	D>N		No	ClinGen gnomAD
rs1554138940 CA361265228	322	A>V		No	ClinGen gnomAD
CA3449637 rs574930135	324	D>A		No	ClinGen 1000Genomes ExAC gnomAD
rs1554138949 CA361265311	325	K>I		No	ClinGen gnomAD
CA361265338 rs1554138952	327	H>Q		No	ClinGen gnomAD
rs782281394 CA3449638	327	H>R		No	ClinGen ExAC gnomAD
CA361265345 rs1554138957	328	P>S		No	ClinGen gnomAD
rs1554138959 CA361265414	330	M>T		No	ClinGen gnomAD
TCGA novel	331	A>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3449639 rs782469106	331	A>V		No	ClinGen ExAC gnomAD
CA361265543 rs782381367	334	C>*		No	ClinGen ExAC TOPMed gnomAD
CA361265537 rs1349163820	334	C>S		No	ClinGen TOPMed
rs781982704 CA3449643	335	T>S		No	ClinGen ExAC gnomAD
CA3449644 rs782294997	337	L>*		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	337	L>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA361265692 rs1554138968	340	I>V		No	ClinGen gnomAD
rs565282599 CA3449648	345	D>G		No	ClinGen 1000Genomes ExAC gnomAD
CA3449647 rs782041548	345	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA361265853 rs1416730508	347	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs782133559 CA3449650	348	P>S		No	ClinGen ExAC gnomAD
rs782761964 CA3449651	350	I>L		No	ClinGen ExAC gnomAD
CA361265961 rs1554138976	351	A>V		No	ClinGen gnomAD
rs1554138978 CA361265993	354	S>T		No	ClinGen gnomAD
CA3449652 rs781911147	356	S>A		No	ClinGen ExAC gnomAD
CA361266027 rs781911147	356	S>P		No	ClinGen ExAC gnomAD
CA361266028 rs781911147	356	S>T		No	ClinGen ExAC gnomAD
rs782539177 CA3449653	357	L>S		No	ClinGen ExAC gnomAD
CA3449654 rs782714668	358	P>L		No	ClinGen ExAC TOPMed gnomAD
COSM3722962 COSM3722963 rs781796924 CA3449655	360	R>C	upper_aerodigestive_tract Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA361266089 rs1490172399	361	E>Q		No	ClinGen TOPMed
CA361266140 rs1266480987	363	A>T		No	ClinGen TOPMed
CA361266161 rs1554138996	364	Q>K		No	ClinGen gnomAD
CA3449656 rs782482546	366	G>D		No	ClinGen ExAC TOPMed gnomAD
CA3449657 rs142074942	367	T>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA361268012 rs142074942	367	T>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs782238105 CA3449658	368	V>D		No	ClinGen ExAC gnomAD
rs1554139013 CA361268020	368	V>L		No	ClinGen gnomAD
CA3449659 rs150855027	369	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs782191799 CA3449661	370	A>D		No	ClinGen ExAC gnomAD
CA3449660 rs782667421 COSM267121 COSM267120	370	A>T	Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA128362488 rs782415730	372	I>V		No	ClinGen TOPMed gnomAD
rs1554139039 CA361268144	374	V>L		No	ClinGen gnomAD
rs541321824 CA3449665	375	N>H		No	ClinGen 1000Genomes ExAC gnomAD
CA128362491 rs200777298	376	D>H		No	ClinGen gnomAD
CA361268172 rs200777298	376	D>Y		No	ClinGen gnomAD
CA361268199 rs1224614078	377	L>R		No	ClinGen TOPMed
CA361268269 rs1299635364	379	S>*		No	ClinGen TOPMed
TCGA novel	379	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA361268279 rs1554139050	380	G>R		No	ClinGen gnomAD
CA361268304 rs1554139058	381	A>V		No	ClinGen gnomAD
rs1554139064 CA361268322	382	N>K		No	ClinGen gnomAD
rs1451214851 CA361268317	382	N>S		No	ClinGen TOPMed
rs781940695 CA3449671	383	G>R		No	ClinGen ExAC TOPMed gnomAD
CA361268361 rs781940695	383	G>W		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	385	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs449407 CA361268485	386	T>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs449407 CA3449674	386	T>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1554139090 CA361268498	387	C>F		No	ClinGen gnomAD
CA361268491 rs1554139085	387	C>R		No	ClinGen gnomAD
CA361268516 rs1554139092	388	S>F		No	ClinGen gnomAD
CA3449675 rs782109145	390	M>T		No	ClinGen ExAC TOPMed gnomAD
CA361268610 rs1554139100	391	P>R		No	ClinGen gnomAD
CA3449679 rs782560800	394	P>A		No	ClinGen ExAC gnomAD
rs1554139112 CA361268739	395	F>L		No	ClinGen gnomAD
CA3449681 rs782464665	396	K>R		No	ClinGen ExAC gnomAD
CA3449683 rs782246560	399	S>F		No	ClinGen ExAC TOPMed gnomAD
rs530202531 CA128362525	399	S>P		No	ClinGen 1000Genomes
rs1554139135 CA361268952	400	T>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs201459051 CA361268973	401	F>S		No	ClinGen ExAC TOPMed gnomAD
CA3449685 rs201459051	401	F>Y		No	ClinGen ExAC TOPMed gnomAD
rs782314356 CA3449687	402	K>R		No	ClinGen ExAC gnomAD
CA361269027 rs1323450768	403	N>T		No	ClinGen TOPMed
rs141068049 CA3449689	405	Y>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1554139153 CA361269124	406	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA361269153 rs1554139159	408	V>G		No	ClinGen gnomAD
rs1384606172 CA361269169	409	L>P		No	ClinGen TOPMed
CA361269186 rs1554139165	410	D>H		No	ClinGen gnomAD
CA361269197 rs1554139165	410	D>N		No	ClinGen gnomAD
CA361269192 rs1554139165	410	D>Y		No	ClinGen gnomAD
rs144906391 CA3449705	411	S>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3449693 rs782657248	411	S>T		No	ClinGen ExAC gnomAD
rs144906391 CA3449704	411	S>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3449711 rs376028436	412	A>D		No	ClinGen ExAC
CA3449710 rs200439538	412	A>S		No	ClinGen ExAC TOPMed gnomAD
rs200439538 COSM4159483 CA3449709 COSM4159482	412	A>T	thyroid [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs376028436 CA3449712	412	A>V		No	ClinGen ExAC
CA361269396 rs782508180	414	D>N		No	ClinGen ExAC gnomAD
CA3449715 rs782689533	414	D>V		No	ClinGen ExAC gnomAD
rs782508180 CA3449714	414	D>Y		No	ClinGen ExAC gnomAD
rs781893579 CA3449717	415	R>C		No	ClinGen ExAC TOPMed gnomAD
CA3449716 rs781893579	415	R>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA3449718 rs782579982	415	R>P		No	ClinGen ExAC gnomAD
rs781893579 CA361269433	415	R>S		No	ClinGen ExAC TOPMed gnomAD
rs782476157 CA3449720	417	R>*		No	ClinGen ExAC gnomAD
rs1554139191 CA361269507	417	R>I		No	ClinGen gnomAD
CA361269512 rs1554139191	417	R>K		No	ClinGen gnomAD
CA3449721 CA3449722 rs3733705	417	R>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA361269520 rs1190804367	418	V>M		No	ClinGen TOPMed gnomAD
rs781932871 CA361269563	419	S>L		No	ClinGen ExAC gnomAD
rs781932871 CA3449724	419	S>W		No	ClinGen ExAC gnomAD
rs782348017 CA3449726	421	Y>C		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	422	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3449727 rs781949214	423	L>F		No	ClinGen ExAC gnomAD
rs1554139208 CA361269756	426	T>I		No	ClinGen gnomAD
TCGA novel	427	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1254196927 CA361269790	428	R>Q		No	ClinGen TOPMed
rs782158043 CA3449731	430	G>A		No	ClinGen ExAC gnomAD
CA361269881 CA3449730 rs534936483	430	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3449729 rs534936483	430	G>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs782736515 CA3449732 COSM1242631 COSM1242630	431	G>D	Variant assessed as Somatic; 0.0 impact. oesophagus [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
TCGA novel	431	G>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA361269954 rs1451476546	432	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs552964281 CA3449734	433	P>L		No	ClinGen 1000Genomes ExAC gnomAD
CA3449735 rs782725221	434	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1338138369 CA361270050	436	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA361270123 rs1554139230	438	T>N		No	ClinGen gnomAD
rs1581008952 CA361270102	438	T>P		No	ClinGen Ensembl
rs1554139232 CA361270156	439	A>V		No	ClinGen gnomAD
CA361270207 rs1391862843	441	L>S		No	ClinGen TOPMed
rs1554139236 CA361270204	441	L>V		No	ClinGen gnomAD
rs781874111 CA3449736	442	S>P		No	ClinGen ExAC TOPMed gnomAD
rs568274799 CA3449737	443	V>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3449738 rs782663797	444	E>K		No	ClinGen ExAC TOPMed gnomAD
CA3449739 rs782197667	445	V>L		No	ClinGen ExAC gnomAD
rs782617650 CA3449741	446	A>G		No	ClinGen ExAC TOPMed gnomAD
rs535256595 CA3449740	446	A>T		No	ClinGen 1000Genomes ExAC gnomAD
CA361270351 rs1554139255	447	D>E		No	ClinGen gnomAD
COSM1062171 CA361270315 rs1164400024 COSM1062170	447	D>N	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs782389861 CA3449743	448	V>M		No	ClinGen ExAC TOPMed gnomAD
CA3449745 rs200360846	449	N>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA361270414 rs1554139258	450	D>H		No	ClinGen gnomAD
CA361270436 rs1184137934	451	N>Y		No	ClinGen TOPMed
rs1554139267 CA361270483	452	A>V		No	ClinGen gnomAD
CA3449748 rs574989982	453	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1438885907 CA361270495	453	P>S		No	ClinGen TOPMed
rs782739424 CA3449749	454	A>V		No	ClinGen ExAC gnomAD
rs781956622 CA3449750	456	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA361270666 rs1490925820	457	Q>R		No	ClinGen TOPMed
CA3449752 rs782817384	458	P>S		No	ClinGen ExAC TOPMed gnomAD
rs782455331 CA3449754	459	E>D		No	ClinGen ExAC gnomAD
CA3449753 rs142047105	459	E>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA361270785 rs1581011599	460	Y>S		No	ClinGen Ensembl
rs1554139288 CA361270805	461	T>A		No	ClinGen gnomAD
rs1353864944 CA361270823	461	T>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs572716323 CA3449758	462	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3449759 COSM1433920 rs376542022 COSM1433921	463	F>L	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
COSM246442 COSM246441 CA361270912 rs1554139301	464	V>M	Variant assessed as Somatic; 0.0 impact. large_intestine prostate [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA361271047 rs1554139308	467	N>I		No	ClinGen gnomAD
rs1554139315 CA361271103	468	N>S		No	ClinGen gnomAD
rs1554139315 CA361271101	468	N>T		No	ClinGen gnomAD
rs1554139317 CA361271164	469	P>Q		No	ClinGen gnomAD
rs1554139317 CA361271169	469	P>R		No	ClinGen gnomAD
CA361271212 rs1302356073	470	P>L		No	ClinGen TOPMed
rs1554139325 CA361271257	471	G>A		No	ClinGen gnomAD
CA361271253 rs1554139325	471	G>D		No	ClinGen gnomAD
rs782215677 CA3449765	472	C>S		No	ClinGen ExAC gnomAD
rs1470514973 CA361271300	473	H>Y		No	ClinGen TOPMed
CA3449768 rs782141289	476	T>A		No	ClinGen ExAC gnomAD
CA3449769 rs149941021	476	T>M		No	ClinGen 1000Genomes ESP ExAC gnomAD
CA3449770 rs149941021	476	T>R		No	ClinGen 1000Genomes ESP ExAC gnomAD
rs1481721691 CA361271526	479	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
COSM448779 CA361271532 COSM448780 rs1270005538	480	R>*	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs1554139345 CA361271542	480	R>L		No	ClinGen Ensembl
rs1554139348 CA361271611	481	D>E		No	ClinGen gnomAD
CA361271649 rs1554139349	482	A>E		No	ClinGen gnomAD
rs1554139356 CA361271729	485	Q>*		No	ClinGen gnomAD
rs782816662 CA3449776	486	E>*		No	ClinGen ExAC TOPMed gnomAD
rs559771780 CA3449777	486	E>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3449775 rs782816662	486	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1285950480 CA361271800	488	A>E		No	ClinGen TOPMed gnomAD
rs1554139363 CA361271792	488	A>P		No	ClinGen gnomAD
rs1554139363 CA361271795	488	A>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
COSM382386 CA361271819 rs1554139367 COSM382385	489	L>M	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
CA361271835 rs1554139371	489	L>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1554139384 CA361271867	490	V>L		No	ClinGen gnomAD
rs1554139387 CA3449781	492	Y>F		No	ClinGen Ensembl
CA3449783 rs782654567	493	S>L		No	ClinGen ExAC gnomAD
TCGA novel	493	S>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA361271993 rs782654567	493	S>W		No	ClinGen ExAC gnomAD
rs1554139406 CA361272026	495	V>A		No	ClinGen gnomAD
TCGA novel	495	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1554139410 CA361272118	497	R>L		No	ClinGen gnomAD
TCGA novel	497	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1581016277 CA361272173	498	R>P		No	ClinGen Ensembl
CA3449786 rs782591406	499	V>G		No	ClinGen ExAC gnomAD
rs144864522 CA3449785	499	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA361272201 rs1554139418	500	G>D		No	ClinGen gnomAD
CA3449788 rs782356855	501	E>*		No	ClinGen ExAC TOPMed gnomAD
rs781954427 CA3449789	501	E>G		No	ClinGen ExAC gnomAD
COSM1062181 CA361272209 COSM1062180 rs782356855	501	E>K	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA3449790 rs782132633	502	R>P		No	ClinGen ExAC gnomAD
rs1554139426 CA361272247	502	R>S		No	ClinGen gnomAD
CA3449794 rs376777545	503	S>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs782372938 CA3449791	503	S>A		No	ClinGen ExAC TOPMed gnomAD
COSM3609936 CA3449793 rs376777545 COSM3609935	503	S>L	Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs782372938 CA3449792	503	S>P		No	ClinGen ExAC TOPMed gnomAD
rs376777545 CA361272283	503	S>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA3449798 rs146745311 COSM88628	505	S>L	ovary [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs146745311 CA3449799	505	S>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1265674507 CA361272408	506	S>N		No	ClinGen TOPMed
rs6873763 CA3449803	508	I>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs782443918 CA3449802	508	I>T		No	ClinGen ExAC gnomAD
CA3449801 rs781802507	508	I>V		No	ClinGen ExAC TOPMed gnomAD
CA3449804 rs782202563	509	S>L		No	ClinGen ExAC gnomAD
rs1554139460 CA361272574	510	V>G		No	ClinGen gnomAD
rs1554139451 CA361272570	510	V>L		No	ClinGen gnomAD
rs1554139464 CA361272578	511	H>N		No	ClinGen gnomAD
COSM3696966 rs112458290 COSM3696967 CA3449806	512	T>A	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA3449807 rs782295377	512	T>K		No	ClinGen ExAC TOPMed gnomAD
rs782295377 CA361272607	512	T>M		No	ClinGen ExAC TOPMed gnomAD
rs782405753 CA3449808	513	E>K		No	ClinGen ExAC gnomAD
rs781943827 CA3449809	514	S>G		No	ClinGen ExAC gnomAD
CA361272683 rs1431713195	514	S>R		No	ClinGen TOPMed
CA361272699 rs1554139478	515	G>R		No	ClinGen gnomAD
CA361272689 rs1554139478	515	G>S		No	ClinGen gnomAD
rs146195620 CA3449810	515	G>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA361272729 rs1554139485	517	V>E		No	ClinGen gnomAD
rs1318602549 CA361272727	517	V>L		No	ClinGen TOPMed gnomAD
rs377090155 CA361272746	518	Y>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA3449811 rs782359907	518	Y>N		No	ClinGen ExAC TOPMed gnomAD
CA3449812 rs781952420	518	Y>S		No	ClinGen ExAC TOPMed gnomAD
CA361272759 rs782040771	519	A>G		No	ClinGen ExAC TOPMed gnomAD
rs78119592 CA3449814	519	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA361272755 rs78119592	519	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3449815 rs782040771	519	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1168905966 CA361272792	521	Q>E		No	ClinGen TOPMed
rs782456985 CA3449819	524	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA361272945 rs1461330741	526	E>D		No	ClinGen TOPMed
CA3449820 rs150252824	527	E>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1554139549 CA361272948	527	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA3449822 rs782551463	528	L>V		No	ClinGen ExAC TOPMed gnomAD
CA3449828 rs147542523	533	F>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA361273230 rs1554139562	536	S>N		No	ClinGen gnomAD
CA361273237 CA3449830 rs550364151	536	S>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1554139566 CA361273282	538	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1356851691 CA361273264	538	R>S		No	ClinGen TOPMed
rs782409910 CA3449833	539	D>E		No	ClinGen ExAC gnomAD
rs782096291 CA3449834	540	A>G		No	ClinGen ExAC gnomAD
rs140143048 CA128363390	540	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA TOPMed gnomAD
CA3449835 rs782724656	541	G>D		No	ClinGen ExAC gnomAD
rs568669482 CA128363424	542	V>A		No	ClinGen 1000Genomes
rs781992990 CA3449836	542	V>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA3449837 rs6889154	543	P>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs6889154 CA361273403	543	P>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3449838 rs782801173	544	P>T		No	ClinGen ExAC gnomAD
CA3449839 rs781885344	546	G>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA3449840 rs782065876	548	N>K		No	ClinGen ExAC gnomAD
rs1481565497 CA361273540	549	V>L		No	ClinGen TOPMed
CA361273537 rs1481565497	549	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1481925151 CA361273583	550	T>K		No	ClinGen TOPMed
rs372615892 CA3449842	551	L>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs1554139598 CA361273609	552	Q>*		No	ClinGen gnomAD
CA361273616 rs782474622	552	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA3449844 rs782659552	553	V>A		No	ClinGen ExAC gnomAD
CA361273665 rs1554139609	554	F>L		No	ClinGen gnomAD
CA3449845 rs781861256	554	F>S		No	ClinGen ExAC gnomAD
rs1322607138 CA361273693	555	V>G		No	ClinGen TOPMed gnomAD
rs782569977 CA3449847	555	V>L		No	ClinGen ExAC TOPMed gnomAD
COSM1062187 CA3449846 rs782569977 COSM1062186	555	V>M	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs200097598 CA3449848	556	L>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3449850 rs144435690	557	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA361273750 rs1409771801	558	E>G		No	ClinGen TOPMed gnomAD
CA3449851 rs782255657	558	E>K		No	ClinGen ExAC gnomAD
CA361273796 rs782367335	559	N>K		No	ClinGen ExAC TOPMed gnomAD
rs148440856 CA128363507	560	D>G		No	ClinGen ESP
rs782032676 CA3449853	560	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs74684741 CA128363515	561	N>S		No	ClinGen 1000Genomes gnomAD
CA361273833 rs1562406385	562	A>T		No	ClinGen Ensembl
CA3449856 rs553667841	563	P>L		No	ClinGen 1000Genomes ExAC gnomAD
CA3449857 rs553667841	563	P>R		No	ClinGen 1000Genomes ExAC gnomAD
COSM1062188 rs1554139637 COSM1062189 CA361273875	564	A>T	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA3449861 rs782808688	567	E>A		No	ClinGen ExAC TOPMed gnomAD
rs142550829 CA3449859	567	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs142550829 CA3449860	567	E>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs542503368 CA3449862	568	P>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA361273947 rs542503368	568	P>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs146495947 CA3449863	569	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA361273987 rs146495947	569	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3449865 rs781820137	570	V>M		No	ClinGen ExAC gnomAD
rs782628696 CA3449867	571	G>S		No	ClinGen ExAC gnomAD
rs782295838 CA3449868	572	G>D		No	ClinGen ExAC gnomAD
CA361274051 rs1581026651	573	T>A		No	ClinGen Ensembl
rs1265015709 CA361274084	574	G>D		No	ClinGen TOPMed
rs1219663342 CA361274116	575	G>D		No	ClinGen TOPMed
CA3449870 rs782574497	575	G>S		No	ClinGen ExAC gnomAD
rs782358250 CA3449872	576	A>S		No	ClinGen ExAC TOPMed gnomAD
CA361274134 rs782358250	576	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1554139673 CA361274149	576	A>V		No	ClinGen gnomAD
CA361274168 rs781959729	577	A>G		No	ClinGen ExAC TOPMed gnomAD
CA361274157 rs1554139678	577	A>P		No	ClinGen gnomAD
COSM1062190 rs781959729 CA3449873 COSM1062191	577	A>V	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA361274185 rs1554139685	578	S>N		No	ClinGen gnomAD
CA361274186 rs782136432 CA3449875	578	S>R		No	ClinGen ExAC TOPMed gnomAD
rs6580012 VAR_059181 CA3449876	579	K>E		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA361274269 rs782077054	582	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA3449880 rs782077054	582	P>R		No	ClinGen ExAC gnomAD
CA361274266 rs1554139692	582	P>S		No	ClinGen gnomAD
rs369590519 CA3449882	583	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs369590519 CA361274286	583	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA361274284 rs1345239073	583	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs782551276 CA3449883	584	S>C		No	ClinGen ExAC TOPMed gnomAD
rs1581028716 CA361274336	585	V>M		No	ClinGen Ensembl
CA3449886 rs564409198	587	A>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1554139718 CA361274388	587	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
COSM205078 COSM205077 rs564409198 CA361274400	587	A>V	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA3449887 rs782430812	588	G>D		No	ClinGen ExAC gnomAD
rs1554139726 CA361274459 CA361274461	589	H>Q		No	ClinGen gnomAD
rs782211835 CA3449889	589	H>Y		No	ClinGen ExAC gnomAD
CA361274462 rs1486994052	590	V>M		No	ClinGen TOPMed gnomAD
rs782530236 CA3449890	592	A>E		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	594	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	595	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1327692669 CA361274530	595	R>G		No	ClinGen TOPMed gnomAD
COSM4141461 COSM4141460 CA3449892 rs782303922	595	R>H	ovary [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA361274541 rs782303922	595	R>L		No	ClinGen ExAC gnomAD
CA361274551 rs1554139748	596	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA361274561 rs1581030380	596	A>V		No	ClinGen Ensembl
CA361274582 rs1562408070	597	V>A		No	ClinGen Ensembl
rs781942867 CA3449895	598	D>E		No	ClinGen ExAC TOPMed gnomAD
CA361274586 rs1234618172	598	D>H		No	ClinGen TOPMed gnomAD
CA361274584 rs1234618172	598	D>N		No	ClinGen TOPMed gnomAD
rs782332485 CA3449896	599	A>G		No	ClinGen ExAC gnomAD
rs1554139755 CA361274606	599	A>S		No	ClinGen gnomAD
rs782103518 CA3449898	600	D>G		No	ClinGen ExAC gnomAD
CA3449897 rs781998967	600	D>H		No	ClinGen ExAC gnomAD
rs782103518 CA361274636	600	D>V		No	ClinGen ExAC gnomAD
rs782805486 CA3449900	601	S>*		No	ClinGen ExAC gnomAD
CA3449899 rs782805486	601	S>L		No	ClinGen ExAC gnomAD
CA361274677 rs1554139770	602	G>D		No	ClinGen gnomAD
rs1554139768 CA361274669	602	G>S		No	ClinGen gnomAD
CA3449905 rs782774244	603	Y>C		No	ClinGen ExAC gnomAD
CA3449904 rs782483674	603	Y>D		No	ClinGen ExAC gnomAD
CA3449907 rs782545854	604	N>K		No	ClinGen ExAC TOPMed gnomAD
CA361274732 rs1365552111	604	N>S		No	ClinGen TOPMed
COSM1062200 rs782672387 COSM1062201 CA3449908	605	A>V	Variant assessed as Somatic; 0.0 impact. oesophagus endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA361274782 rs1432182351	607	L>V		No	ClinGen TOPMed
COSM137434 COSM137433 CA361274806 rs1554139783	608	S>L	lung Variant assessed as Somatic; 0.0 impact. skin [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA361274804 rs1554139783	608	S>W		No	ClinGen gnomAD
rs782445062 CA3449910	609	Y>*		No	ClinGen ExAC gnomAD
CA361274814 rs1554139789	609	Y>H		No	ClinGen gnomAD
rs62622825 CA3449912	611	L>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3449913 COSM590067 COSM590068 rs782251340	613	P>T	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA3449915 rs782024543	614	A>P		No	ClinGen ExAC gnomAD
rs781918147 CA3449918	617	S>C		No	ClinGen ExAC gnomAD
CA361275010 rs1554139820	618	P>A		No	ClinGen gnomAD
rs369930708 CA3449920	618	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs369930708 CA128363831	618	P>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs145175505 CA361275044	619	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA3449921 rs145175505	619	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA361275041 rs145175505	619	R>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA361275054 rs1554139831	620	I>F		No	ClinGen gnomAD
rs1554139835 CA361275057	620	I>N		No	ClinGen gnomAD
CA361275051 rs1554139831	620	I>V		No	ClinGen gnomAD
rs782111693 CA3449922	621	P>A		No	ClinGen ExAC TOPMed gnomAD
CA3449926 rs782703557	623	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs200720426 CA128363875 COSM736198	623	R>H	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA361275123 rs1201499380	624	V>L		No	ClinGen TOPMed gnomAD
TCGA novel	624	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM3409835 rs1554139855 CA361275171 COSM3409836	625	G>V	Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA361275206 rs1554139863	627	Y>H		No	ClinGen gnomAD
rs149174279 CA3449929	628	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA128363899 rs199959178	628	T>K		No	ClinGen Ensembl
CA361275233 rs149174279	628	T>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA361275244 rs1562409820	629	G>S		No	ClinGen Ensembl
CA128363900 rs370596725	630	E>*		No	ClinGen ESP TOPMed gnomAD
rs1554139873 CA361275346	633	T>N		No	ClinGen gnomAD
CA3449931 rs782521886	634	T>I		No	ClinGen ExAC TOPMed gnomAD
rs781895613 CA3449930	634	T>P		No	ClinGen ExAC
CA361275412 rs1225755586	637	L>M		No	ClinGen TOPMed
CA361275449 CA361275451 rs782176303	638	D>E		No	ClinGen ExAC TOPMed gnomAD
CA3449935 rs782601520	640	A>G		No	ClinGen ExAC TOPMed gnomAD
CA3449934 rs782503175	640	A>T		No	ClinGen ExAC TOPMed gnomAD
CA361275485 rs782601520	640	A>V		No	ClinGen ExAC TOPMed gnomAD
rs782032247 CA3449938	641	D>E		No	ClinGen ExAC TOPMed gnomAD
rs550425757 CA361275491	641	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs550425757 CA3449937	641	D>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1554139882 COSM163315 CA361275540 COSM163316	642	S>C	lung upper_aerodigestive_tract Variant assessed as Somatic; 0.0 impact. breast [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs1554139888 CA361275561	644	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
COSM590065 COSM590066 CA361275612 rs146582216	646	R>C	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs146582216 CA3449939	646	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs139113749 CA361275621	646	R>L		No	ClinGen ESP TOPMed gnomAD
CA128363977 rs139113749	646	R>P		No	ClinGen ESP TOPMed gnomAD
CA128363953 rs146582216	646	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA361275646 rs1188408324	648	L>P		No	ClinGen TOPMed
TCGA novel	650	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA361275693 rs1198092649	650	L>P		No	ClinGen TOPMed
rs1274411257 CA361275709	651	V>A		No	ClinGen TOPMed
rs1225687958 CA361275734	652	K>*		No	ClinGen TOPMed
rs782735781 CA3449943	653	D>E		No	ClinGen ExAC TOPMed gnomAD
rs147078401 CA3449942	653	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs781849460 CA3449944	654	H>L		No	ClinGen ExAC TOPMed gnomAD
CA361275875 rs868909172	657	P>L		No	ClinGen Ensembl
CA3449945 rs539222007	657	P>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3449948 rs781800527	658	A>G		No	ClinGen ExAC TOPMed gnomAD
CA3449946 rs551486770	658	A>T		No	ClinGen 1000Genomes ExAC gnomAD
CA3449947 rs781800527	658	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA361275954 rs1554139925	661	A>V		No	ClinGen gnomAD
CA361275965 rs1393236321	662	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs782295945 CA3449953	662	T>P		No	ClinGen ExAC gnomAD
CA361275962 rs782295945	662	T>S		No	ClinGen ExAC gnomAD
rs376226668 CA128364063	664	T>M		No	ClinGen Ensembl
rs782599276 CA3449955	665	V>F		No	ClinGen ExAC gnomAD
rs782599276 CA361276010	665	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs782182747 CA3449956	666	L>V		No	ClinGen ExAC TOPMed gnomAD
rs782364875 CA3449957	667	V>L		No	ClinGen ExAC gnomAD
CA361276050 rs1251515111	668	S>W		No	ClinGen TOPMed gnomAD
rs781956302 CA3449958	669	L>P		No	ClinGen ExAC gnomAD
CA361276087 rs1490736819	670	V>G		No	ClinGen TOPMed
CA3449960 rs782418319	671	E>G		No	ClinGen ExAC gnomAD
CA3449962 rs782061924	672	S>N		No	ClinGen ExAC gnomAD
rs782689799 CA3449963	672	S>R		No	ClinGen ExAC gnomAD
CA3449964 rs566433680	673	G>C		No	ClinGen 1000Genomes ExAC gnomAD
rs1554139975 CA361276151	673	G>D		No	ClinGen gnomAD
rs1554139979 CA361276168	674	Q>R		No	ClinGen gnomAD
CA3449965 rs201264675	675	A>P		No	ClinGen ExAC TOPMed gnomAD
CA3449966 rs782789921	675	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1554139990 CA361276278	678	A>V		No	ClinGen gnomAD
rs1228911692 CA361276287	679	S>A		No	ClinGen TOPMed
CA3449969 rs782556523	680	S>L		No	ClinGen ExAC TOPMed gnomAD
rs782556523 CA3449968	680	S>W		No	ClinGen ExAC TOPMed gnomAD
CA3449971 rs782456260	682	Q>E		No	ClinGen ExAC TOPMed gnomAD
CA3449972 rs372061063	683	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs372061063 CA3449973	683	S>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA3449976 rs375387773	686	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA3449977 rs782324965	687	L>W		No	ClinGen ExAC TOPMed gnomAD
rs781915199 CA3449978	688	G>D		No	ClinGen ExAC gnomAD
rs782229636 CA3449979	689	P>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed
rs782229636 CA361276495	689	P>R		No	ClinGen ExAC TOPMed
rs782338807 CA3449980	690	E>V		No	ClinGen ExAC TOPMed gnomAD
CA3449981 rs76866537	691	A>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs201868516 CA128364293	692	A>E		No	ClinGen TOPMed gnomAD
rs201868516 COSM1062203 COSM1062202 CA361276539	692	A>V	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA361276585 rs1581042433	694	V>G		No	ClinGen Ensembl
CA361276594 rs1449552698	695	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA361276590 rs1554140032	695	D>H		No	ClinGen gnomAD
rs782706522 CA3449986	697	N>K		No	ClinGen ExAC TOPMed gnomAD
CA128364302 rs529239256	697	N>S		No	ClinGen TOPMed gnomAD
rs1554140048 CA361276658	698	V>A		No	ClinGen gnomAD
rs1554140048 CA361276659	698	V>G		No	ClinGen gnomAD
CA3449987 rs781847872	698	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
TCGA novel	699	Y>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs782799879 CA3449989	701	I>F		No	ClinGen ExAC TOPMed gnomAD
rs781895761 CA361276729	703	A>S		No	ClinGen ExAC TOPMed gnomAD
rs781895761 CA3449990	703	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs782538291 CA3449991	703	A>V		No	ClinGen ExAC gnomAD
TCGA novel	704	I>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA361276742 rs1554140071	704	I>V		No	ClinGen gnomAD
CA361276771 rs781786542	705	C>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA3449993 rs781786542	705	C>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA3449992 rs782581679	705	C>Y		No	ClinGen ExAC gnomAD
COSM163313 CA3449995 COSM163314 rs369179028	706	A>E	breast [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA3449994 rs782486323	706	A>S		No	ClinGen ExAC TOPMed gnomAD
CA3449996 rs369179028	706	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3450002 rs373780721	709	S>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA361277803 rs373780721	709	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs782347393 CA3450003	709	S>R		No	ClinGen ExAC TOPMed gnomAD
rs1554140092 CA361277841	711	L>Q		No	ClinGen gnomAD
CA3450006 rs782119445	712	V>G		No	ClinGen ExAC TOPMed gnomAD
rs1426270135 CA361277853 COSM448791 COSM448792	712	V>L	breast [Cosmic]	No	ClinGen cosmic curated TOPMed
CA3450008 rs781797175	713	L>P		No	ClinGen ExAC gnomAD
COSM125193 rs557665140 CA361277891	714	T>K	upper_aerodigestive_tract [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs557665140 CA3450009	714	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1476836171 CA361277880	714	T>P		No	ClinGen TOPMed gnomAD
rs557665140 CA128364456	714	T>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs377605294 CA3450010	715	L>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs377605294 CA361277898	715	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA3450012 rs142005953	717	L>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA361277953 rs142005953	717	L>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs781903895 CA3450014	718	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA3450013 rs144848413	718	Y>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA361277961 rs144848413	718	Y>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs782580543 CA3450016	720	A>E		No	ClinGen ExAC TOPMed gnomAD
rs782580543 CA361278005	720	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA3450017 rs782179588	722	R>G		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	722	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3450018 rs782364771	723	C>F		No	ClinGen ExAC TOPMed gnomAD
rs1554140138 CA361278078	724	S>P		No	ClinGen gnomAD
rs1554140141 CA361278121	726	L>P		No	ClinGen gnomAD
CA361278116 rs1229435401	726	L>V		No	ClinGen TOPMed
rs374247458 CA3450019	727	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA361278166 rs1554140144	729	E>*		No	ClinGen gnomAD
CA361278184 rs1554140151	730	G>C		No	ClinGen gnomAD
rs1318662464 CA361278189	730	G>V		No	ClinGen TOPMed
CA361278192 rs1554140161	731	G>E		No	ClinGen gnomAD
CA3450023 rs782010980	731	G>R		No	ClinGen ExAC TOPMed gnomAD
CA3450022 rs782010980	731	G>W		No	ClinGen ExAC TOPMed gnomAD
CA3450025 rs782301361	733	R>G		No	ClinGen ExAC TOPMed gnomAD
rs1392443820 CA361278229	733	R>L		No	ClinGen TOPMed gnomAD
CA361278228 rs1392443820	733	R>P		No	ClinGen TOPMed gnomAD
rs1554140167 CA361278236	734	A>E		No	ClinGen gnomAD
CA361278232 rs1168797267	734	A>T		No	ClinGen TOPMed
rs782774776 CA3450028	735	G>S		No	ClinGen ExAC gnomAD
rs1554140180 CA361278261	736	K>*		No	ClinGen gnomAD
CA361278256 rs1554140180	736	K>Q		No	ClinGen gnomAD
CA3450029 rs781853682	736	K>R		No	ClinGen ExAC gnomAD
rs782166064 CA3450030	737	P>A		No	ClinGen ExAC gnomAD
rs782797206 CA3450031	739	L>P		No	ClinGen ExAC TOPMed gnomAD
rs782797206 CA361278307	739	L>R		No	ClinGen ExAC TOPMed gnomAD
rs781804945 CA3450032	740	V>G		No	ClinGen ExAC TOPMed gnomAD
CA3450033 rs782436900	741	C>R		No	ClinGen ExAC TOPMed gnomAD
CA3450034 rs782763344	741	C>Y		No	ClinGen ExAC TOPMed
CA361278360 rs1562414778	742	S>C		No	ClinGen Ensembl
CA361278367 rs1554140211	743	S>G		No	ClinGen gnomAD
rs781826539 CA361278381	743	S>I		No	ClinGen ExAC TOPMed gnomAD
rs781826539 CA3450035	743	S>N		No	ClinGen ExAC TOPMed gnomAD
rs782524668 CA3450036	744	A>G		No	ClinGen ExAC gnomAD
COSM1062206 COSM1062207 rs782524668 CA3450037	744	A>V	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs782302269 CA3450038	747	S>C		No	ClinGen ExAC gnomAD
rs782446806 CA3450039	748	W>*		No	ClinGen ExAC TOPMed gnomAD
rs1341778048 CA361278475	748	W>R		No	ClinGen TOPMed
TCGA novel	750	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM1433932 COSM1433933 rs1380003956 CA361278539	751	S>L	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs1372766659 CA361278567	753	Q>*		No	ClinGen TOPMed gnomAD
CA361278577 rs782332446	753	Q>H		No	ClinGen ExAC gnomAD
CA361278590 rs1309072020	754	Q>L		No	ClinGen TOPMed
rs782000972 CA3450043	755	P>L		No	ClinGen ExAC gnomAD
TCGA novel	755	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1166477260 CA361278622	756	Q>*		No	ClinGen TOPMed
CA128364631 rs782706533	757	R>K		No	ClinGen gnomAD
rs149448038 CA3450046	760	S>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3450047 rs540680849	761	G>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3450048 rs782710742	762	E>K		No	ClinGen ExAC gnomAD
CA3450049 rs145975691	763	G>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs145975691 CA3450050	763	G>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs145975691 CA361278720	763	G>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA361278731 rs868934448	764	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1554140265 CA361278722	764	P>T		No	ClinGen gnomAD
rs111750019 CA3450052	765	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA3450053 rs111750019	765	P>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA3450051 rs111750019	765	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA361278738 rs1554140277	765	P>S		No	ClinGen gnomAD
TCGA novel	766	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	766	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs782710429 CA3450054	767	T>M		No	ClinGen ExAC gnomAD
rs781782868 CA3450055	770	M>I		No	ClinGen ExAC gnomAD
CA361278811 rs1554140287	770	M>L		No	ClinGen gnomAD
rs1554140293 CA361278814	770	M>T		No	ClinGen gnomAD
CA3450056 rs782482933	771	A>S		No	ClinGen ExAC TOPMed gnomAD
CA361278825 rs782482933	771	A>T		No	ClinGen ExAC TOPMed gnomAD
CA361278836 rs1554140304	771	A>V		No	ClinGen gnomAD
rs1554140305 CA361278838	772	F>L		No	ClinGen gnomAD
rs868913785 CA361278859	773	S>G		No	ClinGen Ensembl
CA361278875 rs1231976546	774	P>A		No	ClinGen TOPMed gnomAD
rs1352929745 CA361278883	774	P>R		No	ClinGen TOPMed
CA361278877 rs1231976546	774	P>S		No	ClinGen TOPMed gnomAD
CA3450058 rs782255150	776	L>F		No	ClinGen ExAC TOPMed gnomAD
rs782509207 CA3450059	777	P>L		No	ClinGen ExAC gnomAD
rs561761702 CA3450060	778	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1294872443 CA361278956	779	D>H		No	ClinGen TOPMed
CA361278990 rs1554140326	780	L>P		No	ClinGen gnomAD
rs1554140327 CA361279014	782	S>A		No	ClinGen gnomAD
CA361279038 rs1554140329	783	V>A		No	ClinGen gnomAD
CA3450064 rs782235898	785	V>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA3450063 rs781921417	785	V>I		No	ClinGen ExAC TOPMed gnomAD
COSM1062210 COSM1062211 CA128364677 rs371819535	787	E>K	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated Ensembl NCI-TCGA
rs373997165 CA3450066	788	E>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs1554140348 CA361279110	788	E>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs373997165 CA3450067	788	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA3450069 rs181500612	789	Q>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs782044591 CA3450071	790	D>G		No	ClinGen ExAC gnomAD
rs368153999 CA3450070	790	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	790	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs375271706 CA3450073	794	D>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA128364711 rs930917896	795	H>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA361279231 rs1554140377	796	G>V		No	ClinGen gnomAD
CA361279248 rs1488958162	798	K>E		No	ClinGen TOPMed
rs782749981 CA3450075	798	K>R		No	ClinGen ExAC gnomAD
rs782073950 CA3454452	799	P>R		No	ClinGen ExAC gnomAD
CA361259520 rs1490306705	799	P>S		No	ClinGen TOPMed
rs374951627 CA3454453	800	R>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs781913955 CA3454454	800	R>L		No	ClinGen ExAC gnomAD
CA3454455 rs781913955	800	R>Q		No	ClinGen ExAC gnomAD
rs782109224 CA3454458	805	D>H		No	ClinGen ExAC
COSM3696815 COSM3696819 COSM3696826 COSM3696817 CA3454459 COSM3696814 COSM3696822 COSM3696816 COSM3696828 COSM3696812 COSM3696820 rs782774245 COSM3696813 COSM3696823 COSM3696825 COSM3696821 COSM3696827 COSM3696818 COSM3696824	806	W>L	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA361259640 rs782774245	806	W>S		No	ClinGen ExAC gnomAD
CA3454460 rs141879545	807	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA3454463 rs781815387	810	A>D		No	ClinGen ExAC TOPMed gnomAD
rs138901709 CA3454464	811	S>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs782686641 CA3454465	812	L>P		No	ClinGen ExAC gnomAD
rs1363421000 CA361259736	813	R>I		No	ClinGen TOPMed
rs1586790986 CA361259751	814	A>G		No	ClinGen Ensembl
CA3454466 rs782253140	815	G>R		No	ClinGen ExAC TOPMed gnomAD
CA3454467 rs782336746	816	M>V		No	ClinGen ExAC
CA361259787 rs1554240128	817	H>N		No	ClinGen gnomAD
rs149397164 CA3454468	818	S>G		No	ClinGen ESP ExAC gnomAD
rs782426631 CA3454484	819	S>A		No	ClinGen ExAC TOPMed gnomAD
rs782587733 CA3454485	819	S>C		No	ClinGen ExAC gnomAD
rs782426631 CA361260538	819	S>P		No	ClinGen ExAC TOPMed gnomAD
rs1181664726 CA361260559	820	V>A		No	ClinGen TOPMed gnomAD
CA361260577 rs1554244276	821	H>P		No	ClinGen gnomAD
COSM1062442 COSM1062448 COSM1062450 rs782273708 COSM1062445 COSM1062454 COSM1062455 COSM1062443 COSM1062452 COSM1062456 COSM1062457 COSM1062451 COSM1062453 COSM1062449 COSM1062447 CA3454486 COSM1062444	821	H>Y	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA3454488 rs782634646	823	E>G		No	ClinGen ExAC gnomAD
CA3454487 rs782419098	823	E>Q		No	ClinGen ExAC gnomAD
rs147537783 CA3454489	824	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs981642614 CA128362369	825	A>T		No	ClinGen Ensembl
rs782347331 CA3454490	826	G>D		No	ClinGen ExAC TOPMed gnomAD
CA361260711 rs1468199443	827	I>V		No	ClinGen TOPMed
rs555523473 CA3454493	829	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs139355257 CA3454492	829	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs782025005 CA3454494	831	G>A		No	ClinGen ExAC TOPMed gnomAD
CA361260802 rs1278779763	832	P>T		No	ClinGen TOPMed gnomAD
CA3454495 rs201991205	834	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3454497 rs201572428	836	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3454496 rs782766562	836	D>V		No	ClinGen ExAC
rs1554244431 CA361260933	838	Q>R		No	ClinGen gnomAD
CA3454498 rs782094765	839	W>C		No	ClinGen ExAC gnomAD
CA3454499 RCV000950135 rs79247475	840	P>R		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA128362405 rs369053351	840	P>T		No	ClinGen ESP TOPMed gnomAD
rs1554244455 CA361260996	841	T>A		No	ClinGen gnomAD
CA3454501 rs782544627	842	V>L		No	ClinGen ExAC TOPMed gnomAD
CA3454502 rs577838197	844	S>G		No	ClinGen 1000Genomes ExAC gnomAD
CA3454504 rs781852534	844	S>I		No	ClinGen ExAC gnomAD
rs781852534 CA3454503	844	S>N		No	ClinGen ExAC gnomAD
rs782605920 CA3454505	844	S>R		No	ClinGen ExAC gnomAD
rs199851685 CA3454506	846	T>A		No	ClinGen 1000Genomes ExAC gnomAD
CA3454507 rs782437404	847	P>A		No	ClinGen ExAC gnomAD
rs560422677 CA3454508	847	P>L		No	ClinGen 1000Genomes ExAC gnomAD
rs560422677 CA3454509	847	P>R		No	ClinGen 1000Genomes ExAC gnomAD
CA361261129 rs782437404	847	P>S		No	ClinGen ExAC gnomAD
rs782179145 CA3454531	848	E>G		No	ClinGen ExAC gnomAD
CA3454532 rs782321757	851	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1554262240 CA361268348	853	E>G		No	ClinGen gnomAD
rs781996586 CA3454536	859	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
COSM1179266 rs782079089 COSM1179264 COSM1179272 COSM1179273 COSM1179269 COSM1179270 COSM1179277 COSM1179268 COSM1179263 COSM1179271 COSM1179278 COSM1179275 COSM1179276 COSM1179265 CA3454537 COSM1179267 COSM1179274	860	A>V	lung prostate [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1588246273 CA361268557	862	V>G		No	ClinGen Ensembl
CA3454540 rs782068657	862	V>I		No	ClinGen ExAC gnomAD
rs1563727066 CA361268679	866	S>N		No	ClinGen Ensembl
COSM139598 COSM139601 COSM139604 COSM139606 COSM139609 COSM139603 COSM139600 COSM139611 COSM139608 rs1554262287 COSM139599 COSM139607 COSM139602 COSM139605 COSM139610 CA361268865	872	G>E	skin [Cosmic]	No	ClinGen cosmic curated gnomAD
rs900919931 CA128372514	872	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs1554262289 CA361268920	874	G>D		No	ClinGen gnomAD
CA3454542 rs575518914	876	P>R		No	ClinGen ExAC TOPMed gnomAD
rs1175529844 CA361268995	877	K>R		No	ClinGen TOPMed gnomAD
CA3454543 rs782119637	879	S>C		No	ClinGen ExAC gnomAD
CA3454546 rs552954748	880	G>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs552954748 CA3454545	880	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs373683237 CA3454547	881	P>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs1486746921 CA361269173	882	G>S		No	ClinGen TOPMed
CA128372547 rs1057913	886	D>A		No	ClinGen Ensembl
rs371269236 CA3454551	886	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA3454552 rs782334415	887	K>I		No	ClinGen ExAC TOPMed gnomAD
CA3454553 rs782623559	890	I>V		No	ClinGen ExAC gnomAD
CA3454555 rs782328874	891	P>A		No	ClinGen ExAC TOPMed gnomAD
CA3454556 rs200822345	892	G>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3454559 rs782009776	896	I>M		No	ClinGen ExAC TOPMed gnomAD
rs142720081 CA361269729	896	I>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA3454558 rs142720081	896	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs782087059 CA3454560	897	I>F		No	ClinGen ExAC gnomAD
rs1289763016 CA361269834	899	I>V		No	ClinGen TOPMed
rs760426957 CA3454562	900	R>Q		No	ClinGen ExAC gnomAD
COSM1166265 COSM1166271 COSM1166266 COSM1166268 COSM1166267 COSM1166273 COSM1166276 COSM1166277 COSM1166272 COSM1166264 COSM1166279 rs147351924 CA3454561 COSM1166275 COSM1166269 COSM1166278 COSM1166270 COSM1166274	900	R>W	large_intestine haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA361269875 rs1554262408	901	Q>K		No	ClinGen gnomAD
CA361269953 rs1554262420	903	P>A		No	ClinGen gnomAD
CA361269962 rs1359138927	903	P>R		No	ClinGen TOPMed gnomAD
rs1314860754 CA361269972	904	T>A		No	ClinGen TOPMed
CA361270002 rs1554262437	905	N>K		No	ClinGen TOPMed
CA3454564 rs148436868	906	S>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1554262456 CA361270119	908	I>T		No	ClinGen gnomAD
rs781853535 CA3454565	908	I>V		No	ClinGen ExAC TOPMed gnomAD
rs529364872 CA128372646	909	D>E		No	ClinGen Ensembl
CA3454567 rs142570778	909	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA128372638 rs782057926	909	D>Y		No	ClinGen TOPMed gnomAD
CA3454568 rs781835321	910	K>N		No	ClinGen ExAC gnomAD
rs782451974 CA3454569	913	F>Y		No	ClinGen ExAC gnomAD
CA3454570 rs782578873	915	T>I		No	ClinGen ExAC
rs782274123 CA3454571	916	F>S		No	ClinGen ExAC gnomAD
COSM216699 COSM216705 CA3454573 COSM216710 rs782642898 COSM1158471 COSM216696 COSM216700 COSM216702 COSM216709 COSM216704 COSM216698 COSM216697 COSM216706 COSM216707 COSM216701 COSM216703 COSM216708	917	G>S	Variant assessed as Somatic; 0.0 impact. pancreas [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA3454574 rs782270689	919	K>M		No	ClinGen ExAC gnomAD
rs782270689 CA361270554	919	K>R		No	ClinGen ExAC gnomAD
rs1259591783 CA361270565	920	E>Q		No	ClinGen TOPMed
CA361270593 rs1554262487	921	E>D		No	ClinGen gnomAD
CA3454575 rs782348993	922	T>I		No	ClinGen ExAC gnomAD
rs781972089 CA3454577	923	K>E		No	ClinGen ExAC gnomAD
rs1554262492 CA361270633	923	K>R		No	ClinGen gnomAD
rs374660085 CA3454578	928	K>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA361270828 rs1554262513	929	K>R		No	ClinGen gnomAD
CA3454579 rs782413551	930	K>R		No	ClinGen ExAC TOPMed gnomAD
rs782413551 CA361270853	930	K>T		No	ClinGen ExAC TOPMed gnomAD
rs1307653192 CA361270984	933	K>N		No	ClinGen TOPMed
CA128372721 rs184181976	933	K>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes NCI-TCGA
rs1554262529 CA361271070	936	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs782776948 CA3454583	938	K>N		No	ClinGen ExAC gnomAD
CA3454584 rs781954349	941	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA361271296 rs1295693430	942	N>D		No	ClinGen TOPMed
rs1554262551 CA361271322	942	N>K		No	ClinGen gnomAD
CA361271306 rs1415929182	942	N>S		No	ClinGen TOPMed
CA128372734 rs958247947	943	S>G		No	ClinGen Ensembl
CA128372735 rs17855798	943	S>N		No	ClinGen Ensembl
COSM1434122 COSM1434119 CA3454585 COSM1434134 COSM1434133 COSM1434130 COSM1434131 COSM1434125 COSM1434126 COSM1434124 COSM1434127 COSM1434129 COSM1434121 COSM1434120 COSM1434123 rs199928168 COSM1434128 COSM1434132	944	T>M	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA361271405 rs1301104421	945	T>A		No	ClinGen TOPMed
CA361271440 rs1554262572	946	D>E		No	ClinGen gnomAD
CA361271462 rs1463725058	947	N>Y		No	ClinGen TOPMed

No associated diseases with Q9Y5H6

9 regional properties for Q9Y5H6

Type	Name	Position	InterPro Accession
domain	ABC transporter-like, ATP-binding domain	423 - 646	IPR003439-1
domain	ABC transporter-like, ATP-binding domain	1208 - 1441	IPR003439-2
domain	AAA+ ATPase domain	450 - 623	IPR003593-1
domain	AAA+ ATPase domain	1234 - 1417	IPR003593-2
domain	ABC transporter type 1, transmembrane domain	86 - 350	IPR011527-1
domain	ABC transporter type 1, transmembrane domain	862 - 1157	IPR011527-2
conserved_site	ABC transporter-like, conserved site	548 - 562	IPR017871
domain	CFTR regulator domain	639 - 851	IPR025837
domain	Cystic fibrosis transmembrane conductance regulator, ATP-binding cassette domain 1	389 - 670	IPR047082

Functions

		Description
EC Number
Subcellular Localization	Cell membrane ; Single-pass type I membrane protein
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

1 GO annotations of cellular component

Name	Definition
integral component of plasma membrane	The component of the plasma membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.

1 GO annotations of molecular function

Name	Definition
calcium ion binding	Binding to a calcium ion (Ca2+).

3 GO annotations of biological process

Name	Definition
cell adhesion	The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules.
homophilic cell adhesion via plasma membrane adhesion molecules	The attachment of a plasma membrane adhesion molecule in one cell to an identical molecule in an adjacent cell.
nervous system development	The process whose specific outcome is the progression of nervous tissue over time, from its formation to its mature state.

48 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q3SWX5	CDH6	Cadherin-6	Bos taurus (Bovine)	PR
P79995	CDH10	Cadherin-10	Gallus gallus (Chicken)	PR
Q8UVJ7	CDHR1	Cadherin-related family member 1	Gallus gallus (Chicken)	PR
Q5DRC8	PCDHB6	Protocadherin beta-6	Pan troglodytes (Chimpanzee)	PR
Q5DRF0	PCDHA2	Protocadherin alpha-2	Pan troglodytes (Chimpanzee)	PR
Q5DRE4	PCDHA8	Protocadherin alpha-8	Pan troglodytes (Chimpanzee)	PR
Q5DRE6	PCDHA6	Protocadherin alpha-6	Pan troglodytes (Chimpanzee)	PR
Q5DRF2	PCDHA12	Protocadherin alpha-12	Pan troglodytes (Chimpanzee)	PR
Q5DRE7	PCDHA5	Protocadherin alpha-5	Pan troglodytes (Chimpanzee)	PR
Q5DRF3	PCDHA11	Protocadherin alpha-11	Pan troglodytes (Chimpanzee)	PR
Q5DRF4	PCDHA10	Protocadherin alpha-10	Pan troglodytes (Chimpanzee)	PR
Q9VJB6	CadN2	Putative neural-cadherin 2	Drosophila melanogaster (Fruit fly)	PR
Q9ULB4	CDH9	Cadherin-9	Homo sapiens (Human)	PR
P12830	CDH1	Cadherin-1	Homo sapiens (Human)	PR
Q9H159	CDH19	Cadherin-19	Homo sapiens (Human)	PR
Q9Y6N8	CDH10	Cadherin-10	Homo sapiens (Human)	PR
P55285	CDH6	Cadherin-6	Homo sapiens (Human)	PR
P19022	CDH2	Cadherin-2	Homo sapiens (Human)	PR
Q6ZTQ4	CDHR3	Cadherin-related family member 3	Homo sapiens (Human)	PR
Q9BZA8	PCDH11Y	Protocadherin-11 Y-linked	Homo sapiens (Human)	PR
Q08174	PCDH1	Protocadherin-1	Homo sapiens (Human)	PR
Q9HC56	PCDH9	Protocadherin-9	Homo sapiens (Human)	PR
Q9P2E7	PCDH10	Protocadherin-10	Homo sapiens (Human)	PR
Q9Y5H8	PCDHA3	Protocadherin alpha-3	Homo sapiens (Human)	PR
Q9UN75	PCDHA12	Protocadherin alpha-12	Homo sapiens (Human)	PR
Q9Y5I2	PCDHA10	Protocadherin alpha-10	Homo sapiens (Human)	PR
Q9UN72	PCDHA7	Protocadherin alpha-7	Homo sapiens (Human)	PR
Q9UN74	PCDHA4	Protocadherin alpha-4	Homo sapiens (Human)	PR
Q9Y5I1	PCDHA11	Protocadherin alpha-11	Homo sapiens (Human)	PR
Q9Y5H7	PCDHA5	Protocadherin alpha-5	Homo sapiens (Human)	PR
Q9UN73	PCDHA6	Protocadherin alpha-6	Homo sapiens (Human)	PR
Q9Y5I3	PCDHA1	Protocadherin alpha-1	Homo sapiens (Human)	PR
Q9Y5H9	PCDHA2	Protocadherin alpha-2	Homo sapiens (Human)	PR
Q9Y5H3	PCDHGA10	Protocadherin gamma-A10	Homo sapiens (Human)	PR
O60330	PCDHGA12	Protocadherin gamma-A12	Homo sapiens (Human)	PR
Q9Y5G4	PCDHGA9	Protocadherin gamma-A9	Homo sapiens (Human)	PR
Q9Y5G0	PCDHGB5	Protocadherin gamma-B5	Homo sapiens (Human)	PR
Q9Y5E3	PCDHB6	Protocadherin beta-6	Homo sapiens (Human)	PR
Q9Y5F1	PCDHB12	Protocadherin beta-12	Homo sapiens (Human)	PR
P09803	Cdh1	Cadherin-1	Mus musculus (Mouse)	PR
P15116	Cdh2	Cadherin-2	Mus musculus (Mouse)	PR
P70407	Cdh9	Cadherin-9	Mus musculus (Mouse)	PR
P97326	Cdh6	Cadherin-6	Mus musculus (Mouse)	PR
P70408	Cdh10	Cadherin-10	Mus musculus (Mouse)	PR
Q8VHF2	Cdhr5	Cadherin-related family member 5	Mus musculus (Mouse)	PR
P55280	Cdh6	Cadherin-6	Rattus norvegicus (Rat)	PR
Q9Z1Y3	Cdh2	Cadherin-2	Rattus norvegicus (Rat)	PR
Q767I8	Pcdha4	Protocadherin alpha-4	Rattus norvegicus (Rat)	PR

10	20	30	40	50	60
MDYHWRGELG	SWRLLLLLLL	LAAWKVGSGQ	LHYSVPEEAK	HGTFVGRIAQ	DLGLELAELV
70	80	90	100	110	120
PRLFRVASKR	HRDLLEVSLQ	NGILFVNSRI	DREELCGRSA	ECSIHLEVIV	DRPLQVFHVD
130	140	150	160	170	180
VEVKDVNDNP	PVFRVKDQKL	FVSESRMPDS	RFPLEGASDA	DVGANSVLTY	RLSSHDYFML
190	200	210	220	230	240
DVNSKNDENK	LVELVLRKSL	DREDAPAHHL	FLTATDGGKP	ELTGTVQLLV	TVLDVNDNAP
250	260	270	280	290	300
TFEQSEYEVR	IFENADNGTT	VIKLNASDPD	EGANGAISYS	FNSLVETMVI	DHFSIDRNTG
310	320	330	340	350	360
EIVIRGNLDF	EQENLYKILI	DATDKGHPPM	AGHCTVLVRI	LDKNDNVPEI	ALTSLSLPVR
370	380	390	400	410	420
EDAQFGTVIA	LISVNDLDSG	ANGQVTCSLM	PHVPFKLVST	FKNYYSLVLD	SALDRERVSA
430	440	450	460	470	480
YELVVTARDG	GSPSLWATAS	LSVEVADVND	NAPAFAQPEY	TVFVKENNPP	GCHIFTVSAR
490	500	510	520	530	540
DADAQENALV	SYSLVERRVG	ERSLSSYISV	HTESGKVYAL	QPLDHEELEL	LQFQVSARDA
550	560	570	580	590	600
GVPPLGSNVT	LQVFVLDEND	NAPALLEPRV	GGTGGAASKL	VPRSVGAGHV	VAKVRAVDAD
610	620	630	640	650	660
SGYNAWLSYE	LQPAASSPRI	PFRVGLYTGE	ISTTRVLDEA	DSPRHRLLVL	VKDHGEPALT
670	680	690	700	710	720
ATATVLVSLV	ESGQAPKASS	RQSAGVLGPE	AALVDVNVYL	IIAICAVSSL	LVLTLLLYTA
730	740	750	760	770	780
LRCSALPTEG	GCRAGKPTLV	CSSAVGSWSY	SQQQPQRVCS	GEGPPKTDLM	AFSPCLPPDL
790	800	810	820	830	840
GSVDVGEEQD	LNVDHGLKPR	QPNPDWRYSA	SLRAGMHSSV	HLEEAGILRA	GPGGPDQQWP
850	860	870	880	890	900
TVSSATPEPE	AGEVSPPVGA	GVNSNSWTFK	YGPGNPKQSG	PGELPDKFII	PGSPAIISIR
910	920	930	940
QEPTNSQIDK	SDFITFGKKE	ETKKKKKKKK	GNKTQEKKEK	GNSTTDNSDQ